From 2a93649bea495f405f64a567bb805a52eb40a188 Mon Sep 17 00:00:00 2001 From: Abhishek Date: Mon, 23 Oct 2023 18:47:05 +0530 Subject: [PATCH] Added exercise for 17_fasttext --- ...d_embeddings_using_fasttext_exercise.ipynb | 441 + ...d_embeddings_using_fasttext_solution.ipynb | 463 + 17_fasttext/medquad.csv | 60049 ++++++++++++++++ 3 files changed, 60953 insertions(+) create mode 100644 17_fasttext/Custom_train_word_embeddings_using_fasttext_exercise.ipynb create mode 100644 17_fasttext/Custom_train_word_embeddings_using_fasttext_solution.ipynb create mode 100644 17_fasttext/medquad.csv diff --git a/17_fasttext/Custom_train_word_embeddings_using_fasttext_exercise.ipynb b/17_fasttext/Custom_train_word_embeddings_using_fasttext_exercise.ipynb new file mode 100644 index 0000000..2b82d1d --- /dev/null +++ b/17_fasttext/Custom_train_word_embeddings_using_fasttext_exercise.ipynb @@ -0,0 +1,441 @@ +{ + "cells": [ + { + "cell_type": "markdown", + "id": "76fe58d3", + "metadata": {}, + "source": [ + "## Exercise: Train Custom word embeddings on healthcare dataset\n" + ] + }, + { + "cell_type": "markdown", + "id": "5123fae0", + "metadata": {}, + "source": [ + " Dataset credits --> https://www.kaggle.com/datasets/jpmiller/layoutlm" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "id": "667ec243", + "metadata": {}, + "outputs": [], + "source": [ + "#Import necessary libraries\n", + "import pandas as pd\n", + "import numpy as np\n", + "from string import punctuation\n", + "import string\n", + "from sklearn.feature_extraction.text import CountVectorizer,TfidfVectorizer\n", + "from nltk.corpus import stopwords\n", + "from sklearn.model_selection import train_test_split\n", + "from sklearn.metrics import classification_report\n", + "import fasttext\n", + "import re" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "id": "b2bcf15c", + "metadata": {}, + "outputs": [], + "source": [ + "#read the dataset medquad.csv\n" + ] + }, + { + "cell_type": "code", + "execution_count": 3, + "id": "25a0eb30", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "(16412, 4)" + ] + }, + "execution_count": 3, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "#print the shape of dataframe\n" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "id": "15af9472", + "metadata": {}, + "outputs": [ + { + "data": { + "text/html": [ + "
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questionanswersourcefocus_area
0What is (are) Glaucoma ?Glaucoma is a group of diseases that can damag...NIHSeniorHealthGlaucoma
1What causes Glaucoma ?Nearly 2.7 million people have glaucoma, a lea...NIHSeniorHealthGlaucoma
2What are the symptoms of Glaucoma ?Symptoms of Glaucoma Glaucoma can develop in ...NIHSeniorHealthGlaucoma
3What are the treatments for Glaucoma ?Although open-angle glaucoma cannot be cured, ...NIHSeniorHealthGlaucoma
4What is (are) Glaucoma ?Glaucoma is a group of diseases that can damag...NIHSeniorHealthGlaucoma
\n", + "
" + ], + "text/plain": [ + " question \\\n", + "0 What is (are) Glaucoma ? \n", + "1 What causes Glaucoma ? \n", + "2 What are the symptoms of Glaucoma ? \n", + "3 What are the treatments for Glaucoma ? \n", + "4 What is (are) Glaucoma ? \n", + "\n", + " answer source \\\n", + "0 Glaucoma is a group of diseases that can damag... NIHSeniorHealth \n", + "1 Nearly 2.7 million people have glaucoma, a lea... NIHSeniorHealth \n", + "2 Symptoms of Glaucoma Glaucoma can develop in ... NIHSeniorHealth \n", + "3 Although open-angle glaucoma cannot be cured, ... NIHSeniorHealth \n", + "4 Glaucoma is a group of diseases that can damag... NIHSeniorHealth \n", + "\n", + " focus_area \n", + "0 Glaucoma \n", + "1 Glaucoma \n", + "2 Glaucoma \n", + "3 Glaucoma \n", + "4 Glaucoma " + ] + }, + "execution_count": 5, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "#print top 5 rows\n" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "id": "b80455c3", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "question 0\n", + "answer 5\n", + "source 0\n", + "focus_area 14\n", + "dtype: int64" + ] + }, + "execution_count": 6, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# check null values\n", + "\n" + ] + }, + { + "cell_type": "markdown", + "id": "b316baa1", + "metadata": {}, + "source": [ + "## preprocessing tasks\n", + "\n", + "- drop na values\n", + "- reset indexes to maintain consistency\n", + "- all lowercase\n", + "- remove punctuation\n", + "\n", + "\n" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "id": "c653ee34", + "metadata": {}, + "outputs": [], + "source": [ + "# drop na values\n" + ] + }, + { + "cell_type": "code", + "execution_count": 8, + "id": "e6274c8e", + "metadata": {}, + "outputs": [], + "source": [ + "# reset indexes to maintain consistency\n" + ] + }, + { + "cell_type": "code", + "execution_count": 9, + "id": "28514d07", + "metadata": {}, + "outputs": [], + "source": [ + "# make a new dataframe consisting 'answer' column only\n", + "# (since it is a single column technically the datatype will be series)\n" + ] + }, + { + "cell_type": "code", + "execution_count": 11, + "id": "2257c845", + "metadata": {}, + "outputs": [], + "source": [ + "# write a function that lowercases all text and removes punctuation\n", + "# This script affects single row at a time\n", + "def preprocess(text):\n", + " pass \n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 12, + "id": "9567935e", + "metadata": {}, + "outputs": [], + "source": [ + "# The above function affects single row at a time \n", + "# Write a for loop in such a way that each row is passed-->preprocessed (with the help of function)--> stored in a dataframe\n", + "\n" + ] + }, + { + "cell_type": "code", + "execution_count": 13, + "id": "46c328ea", + "metadata": {}, + "outputs": [], + "source": [ + "# save dataframe as .txt using dataframe.to_csv with file extension as .txt\n" + ] + }, + { + "cell_type": "code", + "execution_count": 14, + "id": "20108c84", + "metadata": {}, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "Read 3M words\n", + "Number of words: 14242\n", + "Number of labels: 0\n", + "Progress: 100.0% words/sec/thread: 75760 lr: 0.000000 avg.loss: 1.669383 ETA: 0h 0m 0s\n" + ] + } + ], + "source": [ + "# use fasttext.train_unsupervised to create custom word embeddings by giving the path of .txt file\n" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "id": "69fd2c9b", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "[(0.8244154453277588, 'echocardiography'),\n", + " (0.8236952424049377, 'echocardiogram'),\n", + " (0.8101474046707153, 'electrocardiogram'),\n", + " (0.7794528007507324, 'ekg'),\n", + " (0.75821852684021, 'echo'),\n", + " (0.7399975061416626, 'bnp'),\n", + " (0.7239078283309937, 'ekgs'),\n", + " (0.697799563407898, 'kar'),\n", + " (0.6961809992790222, 'og'),\n", + " (0.6914857029914856, 'doppler')]" + ] + }, + "execution_count": 15, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# use model.get_nearest_neighbors to get similar words \n" + ] + }, + { + "cell_type": "code", + "execution_count": 16, + "id": "46e6fd34", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "[(0.9166972637176514, 'ligaments'),\n", + " (0.7761837840080261, 'tendons'),\n", + " (0.6720781922340393, 'tendon'),\n", + " (0.6532915830612183, 'discs'),\n", + " (0.6503507494926453, 'collar'),\n", + " (0.6448546051979065, 'elbow'),\n", + " (0.6427308320999146, 'cartilage'),\n", + " (0.6359077095985413, 'sprain'),\n", + " (0.6357372999191284, 'basement'),\n", + " (0.6322224140167236, 'resurfacing')]" + ] + }, + "execution_count": 16, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [] + }, + { + "cell_type": "markdown", + "id": "46a57869", + "metadata": {}, + "source": [ + "### https://fasttext.cc/docs/en/unsupervised-tutorial.html" + ] + }, + { + "cell_type": "code", + "execution_count": 17, + "id": "73f44a47", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "array([ 0.09482857, 0.01533806, -0.03248535, 0.36290362, 0.23964569,\n", + " 0.6089745 , 0.22182386, 0.00589371, 0.3613881 , -0.14488274,\n", + " 0.01389305, 0.23738621, -0.35831967, -0.29773095, -0.08951083,\n", + " 0.32752547, 0.56893593, -0.03249176, 0.3913859 , 0.186696 ,\n", + " -0.15310575, 0.23216903, -0.15104087, -0.33464813, -0.44109988,\n", + " -0.28072706, -0.1688824 , 0.08339334, 0.37181893, 0.43187347,\n", + " 0.19282559, -0.03575048, -0.03617615, 0.3259185 , 0.00179029,\n", + " 0.24684685, -0.20366846, 0.3289233 , 0.5039175 , 0.13526386,\n", + " 0.0718761 , 0.05681711, -0.7553183 , 0.32945108, -0.18107863,\n", + " -0.20611802, -0.14482398, 0.06432518, -0.6852128 , 0.42475495,\n", + " 0.3589564 , 0.18746622, 0.40527713, -0.5937387 , -0.5694664 ,\n", + " -0.443842 , 0.25917894, 0.14711906, 0.56256604, 0.4129863 ,\n", + " 0.1584172 , 0.52890694, 0.46466643, 0.3304083 , -0.3795962 ,\n", + " -0.06420834, 0.21223271, -0.01089323, 0.01456157, 0.12314675,\n", + " 0.07921771, 0.03943039, -0.37637872, -0.13885029, -0.95009553,\n", + " -0.33133692, 0.11084338, -0.5751306 , -0.24254668, 0.09174724,\n", + " -0.3223067 , 0.27014175, 0.48825076, -0.07871709, 0.11109322,\n", + " 0.05146478, -0.12546264, -0.08532781, 0.241089 , -0.02018843,\n", + " -0.5252363 , 0.35856858, 0.11913265, -0.17984863, 0.4042842 ,\n", + " 0.07589825, -0.00663279, 0.14801505, 0.07709462, -0.31627306],\n", + " dtype=float32)" + ] + }, + "execution_count": 17, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# By reading the documentation get the word vector of the word \"brain\"\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "6b2a35c1", + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "Python 3 (ipykernel)", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.9.12" + } + }, + "nbformat": 4, + "nbformat_minor": 5 +} diff --git a/17_fasttext/Custom_train_word_embeddings_using_fasttext_solution.ipynb b/17_fasttext/Custom_train_word_embeddings_using_fasttext_solution.ipynb new file mode 100644 index 0000000..bb0519a --- /dev/null +++ b/17_fasttext/Custom_train_word_embeddings_using_fasttext_solution.ipynb @@ -0,0 +1,463 @@ +{ + "cells": [ + { + "cell_type": "markdown", + "id": "4f34c354", + "metadata": {}, + "source": [ + "## Exercise: Train Custom word embeddings on healthcare dataset\n" + ] + }, + { + "cell_type": "markdown", + "id": "1d414cac", + "metadata": {}, + "source": [ + " Dataset credits --> https://www.kaggle.com/datasets/jpmiller/layoutlm" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "id": "2be567c8", + "metadata": {}, + "outputs": [], + "source": [ + "#Import necessary libraries\n", + "import pandas as pd\n", + "import numpy as np\n", + "from string import punctuation\n", + "import string\n", + "from sklearn.feature_extraction.text import CountVectorizer,TfidfVectorizer\n", + "from nltk.corpus import stopwords\n", + "from sklearn.model_selection import train_test_split\n", + "from sklearn.metrics import classification_report\n", + "import fasttext\n", + "import re" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "id": "ca22ebe7", + "metadata": {}, + "outputs": [], + "source": [ + "#read the dataset medquad.csv\n", + "df_hc = pd.read_csv(\"datasets_nlp/medquad.csv\")" + ] + }, + { + "cell_type": "code", + "execution_count": 3, + "id": "39c7c142", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "(16412, 4)" + ] + }, + "execution_count": 3, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "#print the shape of dataframe\n", + "df_hc.shape" + ] + }, + { + "cell_type": "code", + "execution_count": 4, + "id": "029ed6f9", + "metadata": {}, + "outputs": [ + { + "data": { + "text/html": [ + "
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questionanswersourcefocus_area
0What is (are) Glaucoma ?Glaucoma is a group of diseases that can damag...NIHSeniorHealthGlaucoma
1What causes Glaucoma ?Nearly 2.7 million people have glaucoma, a lea...NIHSeniorHealthGlaucoma
2What are the symptoms of Glaucoma ?Symptoms of Glaucoma Glaucoma can develop in ...NIHSeniorHealthGlaucoma
3What are the treatments for Glaucoma ?Although open-angle glaucoma cannot be cured, ...NIHSeniorHealthGlaucoma
4What is (are) Glaucoma ?Glaucoma is a group of diseases that can damag...NIHSeniorHealthGlaucoma
\n", + "
" + ], + "text/plain": [ + " question \\\n", + "0 What is (are) Glaucoma ? \n", + "1 What causes Glaucoma ? \n", + "2 What are the symptoms of Glaucoma ? \n", + "3 What are the treatments for Glaucoma ? \n", + "4 What is (are) Glaucoma ? \n", + "\n", + " answer source \\\n", + "0 Glaucoma is a group of diseases that can damag... NIHSeniorHealth \n", + "1 Nearly 2.7 million people have glaucoma, a lea... NIHSeniorHealth \n", + "2 Symptoms of Glaucoma Glaucoma can develop in ... NIHSeniorHealth \n", + "3 Although open-angle glaucoma cannot be cured, ... NIHSeniorHealth \n", + "4 Glaucoma is a group of diseases that can damag... NIHSeniorHealth \n", + "\n", + " focus_area \n", + "0 Glaucoma \n", + "1 Glaucoma \n", + "2 Glaucoma \n", + "3 Glaucoma \n", + "4 Glaucoma " + ] + }, + "execution_count": 4, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "#print top 5 rows\n", + "df_hc.head()" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "id": "48d62379", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "question 0\n", + "answer 5\n", + "source 0\n", + "focus_area 14\n", + "dtype: int64" + ] + }, + "execution_count": 5, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# check null values\n", + "\n", + "df_hc.isnull().sum()" + ] + }, + { + "cell_type": "markdown", + "id": "07207fb2", + "metadata": {}, + "source": [ + "## preprocessing tasks\n", + "\n", + "- drop na values\n", + "- reset indexes to maintain consistency\n", + "- all lowercase\n", + "- remove punctuation\n", + "\n", + "\n" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "id": "4f676ffe", + "metadata": {}, + "outputs": [], + "source": [ + "# drop na values\n", + "df_hc.dropna(inplace=True)" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "id": "e9330365", + "metadata": {}, + "outputs": [], + "source": [ + "# reset indexes to maintain consistency\n", + "df_hc = df_hc.reset_index(drop=True)" + ] + }, + { + "cell_type": "code", + "execution_count": 8, + "id": "7a6e489f", + "metadata": {}, + "outputs": [], + "source": [ + "# make a new dataframe consisting 'answer' column only\n", + "# (since it is a single column technically the datatype will be series)\n", + "df_ans = df_hc['answer']" + ] + }, + { + "cell_type": "code", + "execution_count": 9, + "id": "f677dae8", + "metadata": {}, + "outputs": [], + "source": [ + "# write a function that lowercases all text and removes punctuation\n", + "# This script affects single row at a time\n", + "def preprocess(text):\n", + " temp = \"\"\n", + " text = text.strip()\n", + " text = text.lower()\n", + " text = text.replace(\"-\",\" \").replace(\" \",\" \")\n", + " for word in text:\n", + " if word not in punctuation:\n", + " temp+=word\n", + " return temp \n", + " " + ] + }, + { + "cell_type": "code", + "execution_count": 10, + "id": "bb8f7e0e", + "metadata": {}, + "outputs": [], + "source": [ + "# The above function affects single row at a time \n", + "# Write a for loop in such a way that each row is passed-->preprocessed (with the help of function)--> stored in a dataframe\n", + "\n", + "for i in range(len(df_ans)):\n", + " df_ans[i] = preprocess(df_ans[i])" + ] + }, + { + "cell_type": "code", + "execution_count": 11, + "id": "6b6381c8", + "metadata": {}, + "outputs": [], + "source": [ + "# save dataframe as .txt using dataframe.to_csv with file extension as .txt\n", + "df_ans.to_csv(\"datasets_nlp/healthcare.txt\",header=False,index=False)" + ] + }, + { + "cell_type": "code", + "execution_count": 12, + "id": "4599bbf6", + "metadata": {}, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "Read 3M words\n", + "Number of words: 14242\n", + "Number of labels: 0\n", + "Progress: 100.0% words/sec/thread: 51996 lr: 0.000000 avg.loss: 1.652157 ETA: 0h 0m 0s\n" + ] + } + ], + "source": [ + "# use fasttext.train_unsupervised to create custom word embeddings by giving the path of .txt file\n", + "model_hc = fasttext.train_unsupervised(\"datasets_nlp/healthcare.txt\")" + ] + }, + { + "cell_type": "code", + "execution_count": 13, + "id": "330f6a8f", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "[(0.8263229131698608, 'echocardiogram'),\n", + " (0.8148790597915649, 'echocardiography'),\n", + " (0.7939037084579468, 'electrocardiogram'),\n", + " (0.791140615940094, 'ekg'),\n", + " (0.7846466302871704, 'echo'),\n", + " (0.7412909269332886, 'ekgs'),\n", + " (0.7244842052459717, 'bnp'),\n", + " (0.7211816310882568, 'kar'),\n", + " (0.7004911303520203, 'og'),\n", + " (0.676946222782135, 'doppler')]" + ] + }, + "execution_count": 13, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# use model.get_nearest_neighbors to get similar words \n", + "model_hc.get_nearest_neighbors(\"ecg\")" + ] + }, + { + "cell_type": "code", + "execution_count": 14, + "id": "c41699c0", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "[(0.9238018989562988, 'ligaments'),\n", + " (0.7782121896743774, 'tendons'),\n", + " (0.6682389974594116, 'tendon'),\n", + " (0.6544951796531677, 'cartilage'),\n", + " (0.6522432565689087, 'joints'),\n", + " (0.6520083546638489, 'resurfacing'),\n", + " (0.6491118669509888, 'extending'),\n", + " (0.6475667357444763, 'compress'),\n", + " (0.6425794363021851, 'widening'),\n", + " (0.6418549418449402, 'tailbone')]" + ] + }, + "execution_count": 14, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "model_hc.get_nearest_neighbors(\"ligament\")" + ] + }, + { + "cell_type": "markdown", + "id": "a070e9c6", + "metadata": {}, + "source": [ + "### https://fasttext.cc/docs/en/unsupervised-tutorial.html" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "id": "a5344ad1", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "array([ 0.02016333, 0.30255845, 0.04084903, 0.11208713, 0.10345652,\n", + " 0.79780525, 0.3647665 , -0.02003851, 0.57160765, -0.34668088,\n", + " 0.1862476 , -0.03828843, -0.23584977, -0.18024597, 0.21052791,\n", + " 0.21451059, 0.3546918 , 0.0197646 , 0.30479044, 0.16199633,\n", + " -0.26654622, 0.27713412, 0.12995963, -0.29214403, -0.7431378 ,\n", + " -0.3986335 , -0.2762654 , 0.08387363, 0.44675967, 0.37873188,\n", + " 0.03612946, -0.1457945 , -0.15453799, 0.3425216 , -0.04356172,\n", + " -0.07204971, -0.48246548, 0.4327433 , 0.5472697 , -0.10391239,\n", + " 0.33897513, -0.15688512, -0.4303833 , 0.2605495 , -0.06738608,\n", + " -0.1000694 , 0.08408111, 0.11826676, -0.67635757, 0.2858772 ,\n", + " 0.2585256 , 0.18417582, 0.44063672, -0.33223882, -0.31031257,\n", + " -0.1642105 , 0.15793689, 0.2839121 , 0.56134087, 0.37980518,\n", + " -0.0189843 , 0.7617114 , 0.41815984, 0.3020979 , -0.42336625,\n", + " -0.22726956, 0.19179755, -0.04257245, -0.17210221, 0.037574 ,\n", + " 0.3031624 , 0.11863418, -0.3669442 , -0.1543875 , -0.7748602 ,\n", + " -0.29737005, -0.21069846, -0.36336836, 0.09665326, -0.20559132,\n", + " 0.03992032, 0.17216513, 0.226166 , -0.12101639, 0.44854042,\n", + " 0.07090326, 0.11319013, 0.00231931, 0.3539978 , -0.2727153 ,\n", + " -0.26235428, 0.18647212, -0.01934939, -0.1636748 , 0.37086877,\n", + " -0.02776599, -0.02369662, 0.09192817, 0.02194499, -0.29525942],\n", + " dtype=float32)" + ] + }, + "execution_count": 15, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# By reading the documentation get the word vector of the word \"brain\"\n", + "model_hc.get_word_vector(\"brain\")" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "97ebc148", + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "Python 3 (ipykernel)", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.9.12" + } + }, + "nbformat": 4, + "nbformat_minor": 5 +} diff --git a/17_fasttext/medquad.csv b/17_fasttext/medquad.csv new file mode 100644 index 0000000..e95fb24 --- /dev/null +++ b/17_fasttext/medquad.csv @@ -0,0 +1,60049 @@ +question,answer,source,focus_area +What is (are) Glaucoma ?,"Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. While glaucoma can strike anyone, the risk is much greater for people over 60. How Glaucoma Develops There are several different types of glaucoma. Most of these involve the drainage system within the eye. At the front of the eye there is a small space called the anterior chamber. A clear fluid flows through this chamber and bathes and nourishes the nearby tissues. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In glaucoma, for still unknown reasons, the fluid drains too slowly out of the eye. As the fluid builds up, the pressure inside the eye rises. Unless this pressure is controlled, it may cause damage to the optic nerve and other parts of the eye and result in loss of vision. Open-angle Glaucoma The most common type of glaucoma is called open-angle glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result. There is no cure for glaucoma. Vision lost from the disease cannot be restored. However, there are treatments that may save remaining vision. That is why early diagnosis is important. See this graphic for a quick overview of glaucoma, including how many people it affects, whos at risk, what to do if you have it, and how to learn more. See a glossary of glaucoma terms.",NIHSeniorHealth,Glaucoma +What causes Glaucoma ?,"Nearly 2.7 million people have glaucoma, a leading cause of blindness in the United States. Although anyone can get glaucoma, some people are at higher risk. They include - African-Americans over age 40 - everyone over age 60, especially Hispanics/Latinos - people with a family history of glaucoma. African-Americans over age 40 everyone over age 60, especially Hispanics/Latinos people with a family history of glaucoma. In addition to age, eye pressure is a risk factor. Whether you develop glaucoma depends on the level of pressure your optic nerve can tolerate without being damaged. This level is different for each person. Thats why a comprehensive dilated eye exam is very important. It can help your eye care professional determine what level of eye pressure is normal for you. Another risk factor for optic nerve damage relates to blood pressure. Thus, it is important to also make sure that your blood pressure is at a proper level for your body by working with your medical doctor. (Watch the animated video to learn more about the causes of glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Glaucoma +What are the symptoms of Glaucoma ?,"Symptoms of Glaucoma Glaucoma can develop in one or both eyes. The most common type of glaucoma, open-angle glaucoma, has no symptoms at first. It causes no pain, and vision seems normal. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. Tests for Glaucoma Glaucoma is detected through a comprehensive eye exam that includes a visual acuity test, visual field test, dilated eye exam, tonometry, and pachymetry. (Watch the animated video to learn more about testing for glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) A visual acuity test uses an eye chart test to measure how well you see at various distances. A visual field test measures your side or peripheral vision. It helps your eye care professional tell if you have lost side vision, a sign of glaucoma. In a dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. After the exam, your close-up vision may remain blurred for several hours. In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. With pachymetry, a numbing drop is applied to your eye. Your eye care professional uses an ultrasonic wave instrument to measure the thickness of your cornea.",NIHSeniorHealth,Glaucoma +What are the treatments for Glaucoma ?,"Although open-angle glaucoma cannot be cured, it can usually be controlled. While treatments may save remaining vision, they do not improve sight already lost from glaucoma. The most common treatments for glaucoma are medication and surgery. Medications Medications for glaucoma may be either in the form of eye drops or pills. Some drugs reduce pressure by slowing the flow of fluid into the eye. Others help to improve fluid drainage. (Watch the video to learn more about coping with glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) For most people with glaucoma, regular use of medications will control the increased fluid pressure. But, these drugs may stop working over time. Or, they may cause side effects. If a problem occurs, the eye care professional may select other drugs, change the dose, or suggest other ways to deal with the problem. Read or listen to ways some patients are coping with glaucoma. Surgery Laser surgery is another treatment for glaucoma. During laser surgery, a strong beam of light is focused on the part of the anterior chamber where the fluid leaves the eye. This results in a series of small changes that makes it easier for fluid to exit the eye. Over time, the effect of laser surgery may wear off. Patients who have this form of surgery may need to keep taking glaucoma drugs. Researching Causes and Treatments Through studies in the laboratory and with patients, NEI is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. NEI also is supporting studies to learn more about who is likely to get glaucoma, when to treat people who have increased eye pressure, and which treatment to use first.",NIHSeniorHealth,Glaucoma +What is (are) Glaucoma ?,"Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. The most common form of the disease is open-angle glaucoma. With early treatment, you can often protect your eyes against serious vision loss. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) See this graphic for a quick overview of glaucoma, including how many people it affects, whos at risk, what to do if you have it, and how to learn more. See a glossary of glaucoma terms.",NIHSeniorHealth,Glaucoma +What is (are) Glaucoma ?,The optic nerve is a bundle of more than 1 million nerve fibers. It connects the retina to the brain.,NIHSeniorHealth,Glaucoma +What is (are) Glaucoma ?,"Open-angle glaucoma is the most common form of glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When the fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result.",NIHSeniorHealth,Glaucoma +Who is at risk for Glaucoma? ?,"Anyone can develop glaucoma. Some people are at higher risk than others. They include - African-Americans over age 40 - everyone over age 60, especially Hispanics/Latinos - people with a family history of glaucoma. African-Americans over age 40 everyone over age 60, especially Hispanics/Latinos people with a family history of glaucoma. See this graphic for a quick overview of glaucoma, including how many people it affects, whos at risk, what to do if you have it, and how to learn more.",NIHSeniorHealth,Glaucoma +How to prevent Glaucoma ?,"At this time, we do not know how to prevent glaucoma. However, studies have shown that the early detection and treatment of glaucoma, before it causes major vision loss, is the best way to control the disease. So, if you fall into one of the higher risk groups for the disease, make sure to have a comprehensive dilated eye exam at least once every one to two years. Get tips on finding an eye care professional. Learn what a comprehensive dilated eye exam involves.",NIHSeniorHealth,Glaucoma +What are the symptoms of Glaucoma ?,"At first, open-angle glaucoma has no symptoms. It causes no pain. Vision seems normal. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains.",NIHSeniorHealth,Glaucoma +What are the treatments for Glaucoma ?,"Yes. Immediate treatment for early stage, open-angle glaucoma can delay progression of the disease. That's why early diagnosis is very important. Glaucoma treatments include medicines, laser surgery, conventional surgery, or a combination of any of these. While these treatments may save remaining vision, they do not improve sight already lost from glaucoma.",NIHSeniorHealth,Glaucoma +what research (or clinical trials) is being done for Glaucoma ?,"Through studies in the laboratory and with patients, the National Eye Institute is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. NEI also is supporting studies to learn more about who is likely to get glaucoma, when to treat people who have increased eye pressure, and which treatment to use first.",NIHSeniorHealth,Glaucoma +Who is at risk for Glaucoma? ?,Encourage them to have a comprehensive dilated eye exam at least once every two years. Remember -- lowering eye pressure in glaucoma's early stages slows progression of the disease and helps save vision. Get tips on finding an eye care professional.,NIHSeniorHealth,Glaucoma +What is (are) Glaucoma ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov The Glaucoma Foundation 80 Maiden Lane, Suite 700 New York, NY 10038 212-285-0080 Glaucoma Research Foundation 251 Post Street, Suite 600 San Francisco, CA 94108 1-800-826-6693",NIHSeniorHealth,Glaucoma +What is (are) High Blood Pressure ?,"High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. What Is Blood Pressure? Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm arteries and organs such as the heart, kidneys, brain, and eyes. Types of High Blood Pressure There are two main types of high blood pressure: primary and secondary high blood pressure. - Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. - Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed. Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed. Measuring Blood Pressure Blood pressure is always given as two numbers, the systolic and diastolic pressures. Both are important. - Systolic Pressure is the pressure of blood against the artery walls when the heart beats. - Diastolic Pressure is the pressure of blood against the artery walls when the heart is at rest between beats. Systolic Pressure is the pressure of blood against the artery walls when the heart beats. Diastolic Pressure is the pressure of blood against the artery walls when the heart is at rest between beats. Usually these numbers are written one above or before the other -- for example, 120/80 mmHg. The top, or first, number is the systolic and the bottom, or second number, is the diastolic. If your blood pressure is 120/80, you say that it is ""120 over 80."" Normal Blood Pressure Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults. Abnormal Blood Pressure Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. For example, blood pressure readings of 138/82, 128/70, or 115/86 are all in the ""pre-hypertension"" range. (Click the table on the right to see the stages of high blood pressure in adults.) A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher, is considered high blood pressure, or hypertension. Hypertension is the medical term for high blood pressure. If you have diabetes or chronic kidney disease, your recommended blood pressure levels are a systolic blood pressure of 130 mmHg or lower, and a diastolic blood pressure of 80 mmHg or lower. Usually Has No Symptoms High blood pressure is often called ""the silent killer"" because it usually has no symptoms. Occasionally, headaches may occur. Some people may not find out they have high blood pressure until they have trouble with their heart, kidneys, or eyes. When high blood pressure is not diagnosed and treated, it can lead to other life-threatening conditions, including heart attack, heart failure, stroke, and kidney failure. It can also lead to vision changes or blindness. Possible Complications Over Time Over time, high blood pressure can cause - your heart to work too hard and become larger or weaker, which can lead to heart failure. - small bulges (aneurysms) to worsen in your blood vessels. Common locations for aneurysms are the aorta, which is the main artery from the heart; the arteries in your brain, legs, and intestines; and the artery leading to your spleen. - blood vessels in your kidneys to narrow, which can cause kidney failure. - blood vessels in your eyes to burst or bleed, which can cause vision changes and can result in blindness. - arteries throughout your body to ""harden"" faster, especially those in your heart, brain, kidneys, and legs. This can cause a heart attack, stroke, or kidney failure. your heart to work too hard and become larger or weaker, which can lead to heart failure. small bulges (aneurysms) to worsen in your blood vessels. Common locations for aneurysms are the aorta, which is the main artery from the heart; the arteries in your brain, legs, and intestines; and the artery leading to your spleen. blood vessels in your kidneys to narrow, which can cause kidney failure. blood vessels in your eyes to burst or bleed, which can cause vision changes and can result in blindness. arteries throughout your body to ""harden"" faster, especially those in your heart, brain, kidneys, and legs. This can cause a heart attack, stroke, or kidney failure.",NIHSeniorHealth,High Blood Pressure +What causes High Blood Pressure ?,"Changes in Body Functions Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include - kidney fluid and salt balances - the renin-angiotensin-aldosterone system - the sympathetic nervous system activity - blood vessel structure and function. kidney fluid and salt balances the renin-angiotensin-aldosterone system the sympathetic nervous system activity blood vessel structure and function. Kidney Fluid and Salt Balances The kidneys normally regulate the bodys salt balance by retaining sodium and water and eliminating potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure. Renin-Angiotensin-Aldosterone System The renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure. Sympathetic Nervous System Activity The sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure. Blood Vessel Structure and Function Changes in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure. Genetic Causes High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure. However, known genetic factors only account for 2 to 3 percent of all cases. Emerging research suggests that certain DNA changes before birth also may cause the development of high blood pressure later in life. Unhealthy Lifestyle Habits Unhealthy lifestyle habits can cause high blood pressure, including - high sodium intake and sodium sensitivity - drinking too much alcohol - lack of physical activity. high sodium intake and sodium sensitivity drinking too much alcohol lack of physical activity. Overweight and Obesity Research studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure. Medicines Prescription medicines such as asthma or hormone therapies (including birth control pills and estrogen) and over-the-counter medicines such as cold relief medicines may cause high blood pressure. This happens because medicines can - change the way your body controls fluid and salt balances - cause your blood vessels to constrict - impact the renin-angiotensin-aldosterone system, leading to high blood pressure. change the way your body controls fluid and salt balances cause your blood vessels to constrict impact the renin-angiotensin-aldosterone system, leading to high blood pressure. Other Causes Other causes of high blood pressure include medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. These conditions can change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.",NIHSeniorHealth,High Blood Pressure +Who is at risk for High Blood Pressure? ?,"Not a Normal Part of Aging Nearly 1 in 3 American adults have high blood pressure. Many people get high blood pressure as they get older. However, getting high blood pressure is not a normal part of aging. There are things you can do to help keep your blood pressure normal, such as eating a healthy diet and getting more exercise. Risk Factors Anyone can develop high blood pressure. However, these factors can increase your risk for developing high blood pressure. - age - race or ethnicity - being overweight - gender - lifestyle habits - a family history of high blood pressure. age race or ethnicity being overweight gender lifestyle habits a family history of high blood pressure. Age Blood pressure tends to rise with age. In fact, about 65 percent of Americans age 60 or older have high blood pressure. Race/Ethnicity High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans - tend to get high blood pressure earlier in life - often have higher blood pressure numbers - are less likely to achieve target blood pressure goals with treatment. tend to get high blood pressure earlier in life often have higher blood pressure numbers are less likely to achieve target blood pressure goals with treatment. Overweight You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height. Gender Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure. Lifestyle Habits Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include - eating too much sodium or too little potassium - lack of physical activity - drinking too much alcohol - smoking - stress. eating too much sodium or too little potassium lack of physical activity drinking too much alcohol smoking stress. Family History A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.",NIHSeniorHealth,High Blood Pressure +How to prevent High Blood Pressure ?,"Steps You Can Take You can take steps to prevent high blood pressure by adopting these healthy lifestyle habits. - Follow a healthy eating plan. - Be physically active. - Maintain a healthy weight. - If you drink alcoholic beverages, do so in moderation. - Quit smoking. - Learn to cope with and manage stress. Follow a healthy eating plan. Be physically active. Maintain a healthy weight. If you drink alcoholic beverages, do so in moderation. Quit smoking. Learn to cope with and manage stress. Follow a Healthy Eating Plan Follow a healthy eating plan that emphasizes fruits, vegetables, fat-free or low-fat milk and milk products, and whole grains, and that is low in saturated fat, cholesterol, and total fat. Eating this way is even more effective when you also reduce your sodium (salt) intake and calories. One such eating plan is called DASH. DASH stands for Dietary Approaches to Stop Hypertension. This is the name of a study sponsored by the National Institutes of Health that showed that this kind of eating plan can help you prevent and control high blood pressure. The study also showed that combining this kind of eating plan with cutting back on salt in your diet is even more effective at lowering your blood pressure. To learn more about DASH, see Lowering Your Blood Pressure with DASH. Lower Your Salt Intake In general, the lower your salt intake, the lower your blood pressure. Older adults should limit their sodium intake to 2,300 milligrams (mg) daily. The key to reducing the amount of salt we eat is making wise food choices. Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, certain cereals, soy sauce, and foods that contain seasoned salts, monosodium glutamate (MSG), and baking soda. Food from fast food restaurants, frozen foods, and canned foods also tend to be higher in sodium. See tips to reduce salt in your diet. Read Food Labels Be sure to read food labels to choose products lower in salt. Look for foods and seasonings that are labeled as low-salt or ""no added salt."" Look for the sodium content in milligrams and the Percent Daily Value. Aim for foods that are less than 5 percent of the Daily Value of sodium. Foods with 20 percent or more Daily Value of sodium are considered high. To learn more about reading nutrition labels, see Reading the Label. Be Physically Active Regular physical activity can lower high blood pressure and reduce your risk for other health problems. Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30 minutes per week, or vigorous-intensity aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats harder and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time, spread throughout the week. (Watch the video to learn how exercise maintains healthy aging. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Most people dont need to see a doctor before they start a moderate-level physical activity. You should check first with your doctor if you - have heart trouble or have had a heart attack - are over age 50 and are not used to moderate-level physical activity - have a family history of heart disease at an early age, or if you have any other serious health problem. have heart trouble or have had a heart attack are over age 50 and are not used to moderate-level physical activity have a family history of heart disease at an early age, or if you have any other serious health problem. See examples of exercises for older adults at Exercises to Try. For more on exercise and physical activity for older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. Maintain a Healthy Weight Maintaining a healthy weight can help you control high blood pressure and reduce your risk for other health problems. Blood pressure rises as body weight increases. Losing even 10 pounds can lower blood pressure -- and it has the greatest effect for those who are overweight and already have hypertension. A useful measure of overweight and obesity is body mass index (BMI). BMI measures your weight in relation to your height. See the BMI calculator to determine your body mass index or talk to your health care provider. A BMI - below 18.5 is a sign that you are underweight. - between 18.5 and 24.9 is in the healthy range. - between 25 and 29.9 is considered overweight. - of 30 or more is considered obese. below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. A general goal to aim for is a BMI below 25. Your health care provider can help you set an appropriate BMI goal. Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, see Aim for a Healthy Weight. If You Drink Drinking too much alcohol can raise your blood pressure. Alcohol also adds extra calories, which may cause weight gain. Men should have no more than two drinks a day, and women should have no more than one drink a day. If you drink and would like tips on how to cut back, watch the video ""How To Cut Back on Your Drinking."" (To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) See how drinking alcohol can affect you as you age. Don't Smoke Smoking injures blood vessel walls and speeds up the process of hardening of the arteries. It increases your chances of stroke, heart disease, peripheral arterial disease, and several forms of cancer. If you smoke, quit. If you don't smoke, don't start. Once you quit, your risk of having a heart attack is reduced after the first year. So you have a lot to gain by quitting. See how to start a smoking quit plan geared to older adults.",NIHSeniorHealth,High Blood Pressure +What are the symptoms of High Blood Pressure ?,"High blood pressure is often called the ""silent killer"" because you can have it for years without knowing it. The only way to find out if you have high blood pressure is to have your blood pressure measured. Complications When blood pressure stays high over time, it can damage the body and cause complications. Here are some of the common complications, along with their signs and symptoms. - Aneurysms. These occur when an abnormal bulge forms in the wall of an artery. Aneurysms develop and grow for years without causing signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. The signs and symptoms that develop depend on the location of the aneurysm. - Chronic Kidney Disease. This disease occurs when blood vessels narrow in the kidneys, possibly causing kidney failure. - Cognitive Changes Research shows that over time, higher blood pressure numbers can lead to cognitive changes. Signs and symptoms include memory loss, difficulty finding words, and losing focus during conversations. - Eye Damage. This condition occurs when blood vessels in the eyes burst or bleed. Signs and symptoms include vision changes or blindness. - Heart Attack. This occurs when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart doesnt get oxygen. The most common warning symptoms of a heart attack are chest pain or discomfort, upper body discomfort, and shortness of breath. - Heart Failure. This condition occurs when the heart cant pump enough blood to meet the bodys needs. Common signs and symptoms of heart failure include shortness of breath or trouble breathing; feeling tired; and swelling in the ankles, feet, legs, abdomen, and veins in the neck. - Peripheral Arterial Disease. This is a disease in which plaque builds up in leg arteries and affects blood flow in the legs. When people have symptoms, the most common are pain, cramping, numbness, aching, or heaviness in the legs, feet, and buttocks after walking or climbing stairs. - Stroke. A stroke occurs when the flow of oxygen-rich blood to a portion of the brain is blocked. The symptoms of a stroke include sudden onset of weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing. Aneurysms. These occur when an abnormal bulge forms in the wall of an artery. Aneurysms develop and grow for years without causing signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. The signs and symptoms that develop depend on the location of the aneurysm. Chronic Kidney Disease. This disease occurs when blood vessels narrow in the kidneys, possibly causing kidney failure. Cognitive Changes Research shows that over time, higher blood pressure numbers can lead to cognitive changes. Signs and symptoms include memory loss, difficulty finding words, and losing focus during conversations. Eye Damage. This condition occurs when blood vessels in the eyes burst or bleed. Signs and symptoms include vision changes or blindness. Heart Attack. This occurs when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart doesnt get oxygen. The most common warning symptoms of a heart attack are chest pain or discomfort, upper body discomfort, and shortness of breath. Heart Failure. This condition occurs when the heart cant pump enough blood to meet the bodys needs. Common signs and symptoms of heart failure include shortness of breath or trouble breathing; feeling tired; and swelling in the ankles, feet, legs, abdomen, and veins in the neck. Peripheral Arterial Disease. This is a disease in which plaque builds up in leg arteries and affects blood flow in the legs. When people have symptoms, the most common are pain, cramping, numbness, aching, or heaviness in the legs, feet, and buttocks after walking or climbing stairs. Stroke. A stroke occurs when the flow of oxygen-rich blood to a portion of the brain is blocked. The symptoms of a stroke include sudden onset of weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing. How Blood Pressure Is Checked Your health care provider usually takes 23 readings at several medical appointments to diagnose high blood pressure. Based on the results of your blood pressure test, your health care provider will diagnose prehypertension or high blood pressure if your systolic or diastolic readings are consistently higher than 120/80 mmHg. Once your health care provider determines the severity of your blood pressure, he or she can order additional tests to determine if your blood pressure is due to other conditions or medicines or if you have primary high blood pressure. Health care providers can use this information to develop your treatment plan. Some people have white coat hypertension. This happens when blood pressure readings are only high when taken in a health care providers office compared with readings taken in any other location. Researchers believe stress, which can occur during the medical appointment, causes white coat hypertension. Preparing for the Test A blood pressure test is easy and painless and can be done in a health care providers office or clinic. To prepare for the test - dont drink coffee or smoke cigarettes for 30 minutes prior to the test - go to the bathroom before the test. A full bladder can change the reading - sit for 5 minutes before the test. dont drink coffee or smoke cigarettes for 30 minutes prior to the test go to the bathroom before the test. A full bladder can change the reading sit for 5 minutes before the test. To track blood pressure readings over a period of time, the health care provider may ask you to come into the office on different days and at different times to take your blood pressure. The health care provider also may ask you to check readings at home or at other locations that have blood pressure equipment and to keep a written log of all your results. Whenever you have an appointment with the health care provider, be sure to bring your log of blood pressure readings. Ask the doctor or nurse to tell you your blood pressure reading in numbers and to explain what the numbers mean. Write down your numbers or ask the doctor or nurse to write them down for you. Write Down Your Readings Ask the doctor or nurse to tell you your blood pressure reading in numbers and to explain what the numbers mean. Write down your numbers or ask the doctor or nurse to write them down for you. (The wallet card on the right can be printed out and used to record your blood pressure numbers.) Checking Your Own Blood Pressure You can also check your blood pressure at home with a home blood pressure measurement device or monitor. It is important that the blood pressure cuff fits you properly and that you understand how to use the monitor. A cuff that is too small, for example, can give you a reading that is higher than your actual blood pressure. Your doctor, nurse, or pharmacist can help you check the cuff size and teach you how to use it correctly. You may also ask for their help in choosing the right blood pressure monitor for you. Blood pressure monitors can be bought at discount chain stores and drug stores. When you are taking your blood pressure at home, sit with your back supported and your feet flat on the floor. Rest your arm on a table at the level of your heart. After a Diagnosis If you're diagnosed with high blood pressure, your doctor will prescribe treatment. Your blood pressure will be tested again to see how the treatment affects it. Once your blood pressure is under control, you'll still need treatment. ""Under control"" means that your blood pressure numbers are in the normal range. Your doctor will likely recommend routine blood pressure tests. He or she can tell you how often you should be tested. The sooner you find out about high blood pressure and treat it, the better. Early treatment may help you avoid problems such as heart attack, stroke and kidney failure. See tips for talking with your doctor after you receive a medical diagnosis.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm arteries and organs such as the heart, kidneys, brain, and eyes.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. There are two main types of high blood pressure: primary and secondary high blood pressure. Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. For example, blood pressure readings of 138/82, 128/70, or 115/86 are all in the ""pre-hypertension"" range. (Click the table on the right to see the stages of high blood pressure in adults.) The ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg.",NIHSeniorHealth,High Blood Pressure +How to prevent High Blood Pressure ?,"You can take steps to help prevent high blood pressure by adopting these healthy lifestyle habits. - Follow a healthy eating plan like DASH (Dietary Approaches to Stop Hypertension), which emphasizes fruits, vegetables, fat-free and low-fat milk and milk products, and whole grains, fish, poultry, beans, seeds, and nuts, and choose and prepare foods with less sodium (salt). See how the DASH diet (Dietary Approaches to Stop Hypertension) can help with blood pressure control. Follow a healthy eating plan like DASH (Dietary Approaches to Stop Hypertension), which emphasizes fruits, vegetables, fat-free and low-fat milk and milk products, and whole grains, fish, poultry, beans, seeds, and nuts, and choose and prepare foods with less sodium (salt). See how the DASH diet (Dietary Approaches to Stop Hypertension) can help with blood pressure control. - Be physically active for at least 2 and one-half hours a week. Check out Exercises to Try for older adults, or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. (Watch the video to learn how exercise helps maintain healthy aging. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Be physically active for at least 2 and one-half hours a week. Check out Exercises to Try for older adults, or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. (Watch the video to learn how exercise helps maintain healthy aging. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - Maintain a healthy weight and lose weight if you are overweight or obese. Body mass index (BMI) and waist circumference are measures used to determine if someone is overweight or obese. See the BMI calculator to determine your body mass index. Maintain a healthy weight and lose weight if you are overweight or obese. Body mass index (BMI) and waist circumference are measures used to determine if someone is overweight or obese. See the BMI calculator to determine your body mass index. - If you drink alcoholic beverages, do so in moderation: no more than one drink a day for women, no more than two drinks a day for men. If you drink alcoholic beverages, do so in moderation: no more than one drink a day for women, no more than two drinks a day for men. - Quit smoking, or don't start smoking. To get help quitting, call 1 (800) QUIT-NOW or check out Quitting Smoking for Older Adults. Quit smoking, or don't start smoking. To get help quitting, call 1 (800) QUIT-NOW or check out Quitting Smoking for Older Adults. - Learn to manage stress. Learn about relaxation techniques that may relieve tension. Learn to manage stress. Learn about relaxation techniques that may relieve tension.",NIHSeniorHealth,High Blood Pressure +How to diagnose High Blood Pressure ?,"If you are diagnosed with high blood pressure, here are questions to ask your doctor. - Your Blood Pressure Numbers - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? Your Blood Pressure Numbers - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? What is my blood pressure reading in numbers? What is my goal blood pressure? Is my blood pressure under adequate control? Is my systolic pressure too high (over 140)? - Healthy Lifestyle Habits - What would be a healthy weight for me? - Is there a diet to help me lose weight (if I need to) and lower my blood pressure? - Is there a recommended healthy eating plan I should follow to help lower my blood pressure (if I dont need to lose weight)? - Is it safe for me to start doing regular physical activity? Healthy Lifestyle Habits - What would be a healthy weight for me? - Is there a diet to help me lose weight (if I need to) and lower my blood pressure? - Is there a recommended healthy eating plan I should follow to help lower my blood pressure (if I dont need to lose weight)? - Is it safe for me to start doing regular physical activity? - What would be a healthy weight for me? - Is there a diet to help me lose weight (if I need to) and lower my blood pressure? - Is there a recommended healthy eating plan I should follow to help lower my blood pressure (if I dont need to lose weight)? - Is it safe for me to start doing regular physical activity? What would be a healthy weight for me? Is there a diet to help me lose weight (if I need to) and lower my blood pressure? Is there a recommended healthy eating plan I should follow to help lower my blood pressure (if I dont need to lose weight)? Is it safe for me to start doing regular physical activity? - Medications - What is the name of my blood pressure medication? - Is that the brand name or the generic name? - What are the possible side effects of my medication? (Be sure the doctor knows about any allergies you have and any other medications you are taking, including over-the-counter drugs, vitamins, and dietary supplements.) - What time of day should I take my blood pressure medicine? - Are there any foods, beverages, or dietary supplements I should avoid when taking this medicine? - What should I do if I forget to take my blood pressure medicine at the recommended time? Should I take it as soon as I remember or should I wait until the next dosage is due? Medications - What is the name of my blood pressure medication? - Is that the brand name or the generic name? - What are the possible side effects of my medication? (Be sure the doctor knows about any allergies you have and any other medications you are taking, including over-the-counter drugs, vitamins, and dietary supplements.) - What time of day should I take my blood pressure medicine? - Are there any foods, beverages, or dietary supplements I should avoid when taking this medicine? - What should I do if I forget to take my blood pressure medicine at the recommended time? Should I take it as soon as I remember or should I wait until the next dosage is due? - What is the name of my blood pressure medication? - Is that the brand name or the generic name? - What are the possible side effects of my medication? (Be sure the doctor knows about any allergies you have and any other medications you are taking, including over-the-counter drugs, vitamins, and dietary supplements.) - What time of day should I take my blood pressure medicine? - Are there any foods, beverages, or dietary supplements I should avoid when taking this medicine? - What should I do if I forget to take my blood pressure medicine at the recommended time? Should I take it as soon as I remember or should I wait until the next dosage is due? What is the name of my blood pressure medication? Is that the brand name or the generic name? What are the possible side effects of my medication? (Be sure the doctor knows about any allergies you have and any other medications you are taking, including over-the-counter drugs, vitamins, and dietary supplements.) What time of day should I take my blood pressure medicine? Are there any foods, beverages, or dietary supplements I should avoid when taking this medicine? What should I do if I forget to take my blood pressure medicine at the recommended time? Should I take it as soon as I remember or should I wait until the next dosage is due?",NIHSeniorHealth,High Blood Pressure +What are the treatments for High Blood Pressure ?,"High blood pressure is treated with lifestyle changes and medicines. Treatment can help control blood pressure, but it will not cure high blood pressure, even if your blood pressure readings appear normal. If you stop treatment, your blood pressure and risk for related health problems will rise. For a healthy future, follow your treatment plan closely. Work with your health care team for lifelong blood pressure control.",NIHSeniorHealth,High Blood Pressure +What are the treatments for High Blood Pressure ?,"In most cases, the goal is probably to keep your blood pressure below 140/90 mmHg (130/80 if you have diabetes or chronic kidney disease). Normal blood pressure is less than 120/80. Ask your doctor what your blood pressure goal should be. If you have high blood pressure, you will need to treat it and control it for life. This means making lifestyle changes, and, in some cases, taking prescribed medicines, and getting ongoing medical care.",NIHSeniorHealth,High Blood Pressure +What are the treatments for High Blood Pressure ?,"Today, many different types of medicines are available to control high blood pressure. These medicines work in different ways. Some lower blood pressure by removing extra fluid and salt from your body. Others affect blood pressure by slowing down the heartbeat, or by relaxing and widening blood vessels. Often, two or more drugs work better than one. Here are the types of medicines used to treat high blood pressure. - Diuretics (water or fluid Pills) flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. - Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. - Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. - Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. - Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. - Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. - Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. - Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. - Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure. Diuretics (water or fluid Pills) flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure.",NIHSeniorHealth,High Blood Pressure +How to prevent High Blood Pressure ?,"Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. A BMI - below 18.5 is a sign that you are underweight. - between 18.5 and 24.9 is in the healthy range. - between 25 and 29.9 is considered overweight. - of 30 or more is considered obese. below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. See the Body Mass Index Table, available from the National Heart, Lung, and Blood Institute (NHLBI). Body mass index (BMI) applies to both men and women, but it does have some limits. - It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) - It may underestimate body fat in older persons and others who have lost muscle mass. It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) It may underestimate body fat in older persons and others who have lost muscle mass. Thats why waist measurement is often checked as well. Another reason is that too much body fat in the stomach area also increases disease risk. A waist measurement of more than 35 inches in women and more than 40 inches in men is considered high.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Blood pressure rises as body weight increases. Losing even 10 pounds can lower blood pressure -- and it has the greatest effect for those who are overweight and already have hypertension. If you are overweight or obese, work with your health care provider to develop a plan to help you lower your weight and maintain a healthy weight. Aim to reduce your weight by 7 to 10 percent over six months, which can lower your risk for health problems. For example, if you are overweight at 200 pounds, try to lose 14 to 20 pounds over six months. After that, you may have to continue to lose weight to get to a healthy weight.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"""DASH"" stands for ""Dietary Approaches to Stop Hypertension."" This is the name of a clinical study that tested the effects of nutrients in food on blood pressure. Study results indicated that you can reduce high blood pressure by following an eating plan that emphasizes fruits, vegetables, and fat-free or low-fat milk and milk products, and that is low in saturated fat, cholesterol, total fat, and added sugars. The DASH eating plan also includes whole grains, poultry, fish, and nuts, and has reduced amounts of red meats, sweets, added sugars, and beverages containing sugars. A second study, called ""DASH-Sodium,"" showed that eating less salt also lowered blood pressure in people following either the DASH eating plan or the typical American diet. But those following DASH, especially those with high blood pressure, benefited the most. For more information on using the DASH eating plan, see Your Guide to Lowering Your Blood Pressure with DASH.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG), and baking soda. Food from fast food restaurants, frozen foods, and canned foods also tend to be higher in sodium.",NIHSeniorHealth,High Blood Pressure +What is (are) High Blood Pressure ?,"Older adults should limit their sodium (salt) intake to 1,500 mg a day. That's about 2/3 of a teaspoon of salt. Here are tips to reduce salt in your diet. - Buy fresh, plain frozen, or canned with no salt added vegetables. Choose foods packed in water instead of broth or salt. - Use fresh poultry, fish, and lean meat, rather than canned or processed types. - Use herbs, spices, and salt-free seasoning blends in cooking and at the table. - Cook rice, pasta, and hot cereal without salt. Cut back on instant or flavored rice, pasta, and cereal mixes, which usually have added salt. - Choose convenience foods that are low in sodium. Cut back on frozen dinners, pizza, packaged mixes, canned soups or broths, and salad dressingsthese often have a lot of sodium. - Rinse canned foods, such as tuna, to remove some sodium. - When available, buy low- or reduced-sodium or no-salt-added versions of foods. - Choose ready-to-eat breakfast cereals that are low in sodium. Buy fresh, plain frozen, or canned with no salt added vegetables. Choose foods packed in water instead of broth or salt. Use fresh poultry, fish, and lean meat, rather than canned or processed types. Use herbs, spices, and salt-free seasoning blends in cooking and at the table. Cook rice, pasta, and hot cereal without salt. Cut back on instant or flavored rice, pasta, and cereal mixes, which usually have added salt. Choose convenience foods that are low in sodium. Cut back on frozen dinners, pizza, packaged mixes, canned soups or broths, and salad dressingsthese often have a lot of sodium. Rinse canned foods, such as tuna, to remove some sodium. When available, buy low- or reduced-sodium or no-salt-added versions of foods. Choose ready-to-eat breakfast cereals that are low in sodium.",NIHSeniorHealth,High Blood Pressure +What is (are) Paget's Disease of Bone ?,"Enlarged and Misshapen Bones Paget's disease of bone causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone. Paget's disease can occur in any bone in the body, but it is most common in the pelvis, spine, skull, and leg bones. It may occur in just one bone or in several bones, but it does not affect the entire skeleton or spread from affected bones to normal bones. Common symptoms include pain, misshapen bones, and a greater chance of broken bones. Complications Paget's disease can also lead to complications, such as arthritis, headaches, hearing loss, or nervous system problems, depending on which bones are affected. If not treated, Paget's disease can reduce a person's ability to perform activities of daily living, thereby reducing quality of life. Although it is the second most common bone disease after osteoporosis, Paget's disease is still uncommon. According to Bone Health and Osteoporosis: A Report of the Surgeon General, an estimated 1 million people in the U.S. have Paget's disease, or about 1.3 people per 100 men and women age 45-74. The disease is more common in older people and those of Northern European heritage. Men are more likely than women to have the disease. Cause is Unknown Paget's disease is named after the British surgeon, Sir James Paget, who first identified the disease in 1877. Researchers are not sure what causes it. Heredity may be a factor in some cases. Research suggests that a close relative of someone with Paget's disease is seven times more likely to develop the disease than someone without an affected relative. However, most people with Paget's disease do not have any relatives with the disease. Researchers think the disease also may be caused by other factors, such as a slow-acting virus. A Treatable Disease The good news is that Paget's disease of bone is treatable, especially if it is diagnosed early. In recent years, the Food and Drug Administration has approved several medications that can stop or slow the disease's progression. In some cases, surgery can help patients manage the symptoms and complications of the disease.",NIHSeniorHealth,Paget's Disease of Bone +What are the symptoms of Paget's Disease of Bone ?,"Symptoms Many people don't know they have Paget's disease because they have a mild case of the disease and do not have any symptoms. However, people with more advanced cases of the disease will likely have symptoms. Symptoms vary depending on which bone or bones are affected. People with Paget's disease may experience - bone pain - misshapen bones - fractures - osteoarthritis of the joints adjacent to bone affected by the disease. bone pain misshapen bones fractures osteoarthritis of the joints adjacent to bone affected by the disease. Paget's disease can also cause a variety of neurological complications as a result of compression of nerve tissue by bone affected by the disease. Misshapen bone is most obvious when the leg bones, skull, or bones of the spine are affected. Leg bones may become bowed, the skull may become enlarged, and malformed spinal bones may cause curvature of the spine. Complications People with Paget's disease also are more likely to break bones because bones affected by the disease are more fragile. Enlarged and malformed bones can distort the position of bones and joints. This causes wear and tear on the joints next to bones affected by Paget's disease, resulting in arthritis. On very rare occasions, Paget's disease is linked to the development of osteosarcoma, a type of bone cancer. Less than one percent of patients have this complication.",NIHSeniorHealth,Paget's Disease of Bone +How to diagnose Paget's Disease of Bone ?,"An Underdiagnosed Disease Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease. When symptoms do occur, they usually appear gradually and, in the early stages, may be confused with those of arthritis or other medical problems. Sometimes a person may not receive a clear diagnosis until the disease progresses and complications develop. Diagnostic Tests X-rays are almost always used to diagnose Paget's disease, but the disease may be discovered using one of three tests: - x-rays - an alkaline phosphatase blood test - or a bone scan. x-rays an alkaline phosphatase blood test or a bone scan. Bones affected by Paget's disease have a distinctive appearance on x-rays, which may show increased bone density, an abnormal bone structure, bowing, and enlargement. X-rays of leg bones may show very tiny fractures called microfractures. The enzyme alkaline phosphatase is involved in the normal growth of new bone. Having higher-than-normal levels of this chemical in the blood, however, may be a sign of Paget's disease. The alkaline phosphatase blood test measures the level of this substance. A bone scan provides a picture of the affected bones that doctors can use to see how far the disease has progressed. If a bone scan done for another reason suggests Paget's disease, the doctor can order x-rays to confirm the diagnosis. If the Disease Runs in the Family Early diagnosis and treatment of Paget's disease is important. Because Paget's disease can be hereditary, some experts recommend that the brothers, sisters, and children of anyone with the disease talk to their doctor about having an alkaline phosphatase blood test every 2 to 3 years after about age 40.",NIHSeniorHealth,Paget's Disease of Bone +What are the treatments for Paget's Disease of Bone ?,"Early Diagnosis is Important Although there is no cure for Paget's disease of bone, it is treatable. Treatment is most effective when the disease is diagnosed early, before it causes major changes in the affected bones. The goal of treatment is to relieve bone pain and prevent the disease from progressing. Medications Are Available The Food and Drug Administration has approved several medications that can stop or slow down the progression of the disease and reduce pain and other symptoms. These medications fall into two categories: bisphosphonates and calcitonin. Both medications work by stopping or reducing the excessive breakdown of old bone that leads to excessive formation of new, but weaker, bone. People with Paget's disease should talk to their doctors about which medication is right for them. Bisphosphonates Six bisphosphonates are currently available for patients with Paget's disease. Doctors most commonly recommend the strongest ones, which include - risedronate - alendronate - pamidronate - zoledronic acid - tiludronate and etidronate are not as strong but may be appropriate for some patients. risedronate alendronate pamidronate zoledronic acid tiludronate and etidronate are not as strong but may be appropriate for some patients. Some of the bisphosphonates approved for the treatment of Paget's disease, including risedronate and alendronate, are also approved for the treatment of osteoporosis. However, people with Paget's disease must take higher dosages of these medicines for shorter periods of time than people with osteoporosis. Calcitonin Doctors also may prescribe calcitonin to treat Paget's disease in some people, although it has been found to be less effective than bisphosphonates. Calcitonin is a naturally occurring hormone made by the thyroid gland. Your doctor may recommend that you repeat calcitonin treatments with brief rest periods in between treatments. The nasal spray form of calcitonin is not recommended or approved to treat Paget's disease. Surgery Surgery may be a treatment option for some people. Hip or knee replacement surgery may help people with severe arthritis. Surgery can also realign affected leg bones to reduce pain or help broken bones heal in a better position. Nutrition and Exercise Good nutrition and exercise are important for bone health, and that is true for people with Paget's disease as well. Women over age 50 should consume 1,200 milligrams (mg) of calcium daily. Men between the ages of 51 and 70 should consume 1,000 mg of calcium a day, and men over 70 should consume 1,200 mg per day. People ages 51 to 70 should consume at least 600 international units (IU) of vitamin D daily. People over age 70 should consume at least 800 IUs daily. Calcium keeps bones strong, and vitamin D helps the body absorb calcium. Exercise is very important in maintaining bone health, avoiding weight gain, and keeping joints mobile. However, people with Paget's disease need to avoid putting too much stress on affected bones. They should discuss their exercise program with their doctor to make sure it is a good one for them. Finding New Treatments Recently, there have been major advances in the treatment of Paget's disease of bone. Research into new treatments continues. Some researchers are trying to identify the genetic and viral causes of the disease. Other researchers are learning more about bone biology to better understand how the body breaks down old bone and replaces it with new bone.",NIHSeniorHealth,Paget's Disease of Bone +What is (are) Paget's Disease of Bone ?,"Paget's disease of bone is a disease that causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone.",NIHSeniorHealth,Paget's Disease of Bone +What are the symptoms of Paget's Disease of Bone ?,"Pain may be a symptom, especially among people with more advanced Paget's disease. Affected bones also can become enlarged, misshapen, and more fragile and likely to break. Misshapen bones tend to be most noticeable in the legs, skull, and spine.",NIHSeniorHealth,Paget's Disease of Bone +What are the complications of Paget's Disease of Bone ?,"Over time, Paget's disease may lead to other medical conditions, including arthritis, headaches, hearing loss, and nervous system problems, depending on which bones are affected. On very rare occasions, Paget's disease is associated with the development of osteosarcoma, a type of bone cancer. Less than one percent of patients have this complication.",NIHSeniorHealth,Paget's Disease of Bone +How to diagnose Paget's Disease of Bone ?,"Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. In other cases, a person experiences problems that lead his or her physician to order these tests. If Paget's disease is first suggested by an alkaline phosphatase blood test or bone scan, the physician usually orders an x-ray to verify the diagnosis. A bone scan is typically used to identify all the bones in the skeleton that are affected by the disease.",NIHSeniorHealth,Paget's Disease of Bone +What are the treatments for Paget's Disease of Bone ?,"The Food and Drug Administration has approved several medications that can stop or slow down the progression of the disease and reduce pain and other symptoms. These medications fall into two categories: bisphosphonates and calcitonin. Doctors most often prescribe one of the four strongest bisphosphonates, which are risedronate, alendronate, pamidronate, and zoledronic acid.",NIHSeniorHealth,Paget's Disease of Bone +What are the treatments for Paget's Disease of Bone ?,Yes. Some complications from Paget's disease respond well to surgery. Joint replacement may be helpful in people with severe arthritis of the hip or knee. Surgery can also realign affected leg bones to reduce pain or help broken bones heal in a better position.,NIHSeniorHealth,Paget's Disease of Bone +What is (are) Urinary Tract Infections ?,"A Common Problem With Aging Urinary tract infections (UTIs) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Some UTIs Lead to Severe Problems Most UTIs are not serious. But some UTIs, such as kidney infections, can lead to severe problems. Bacteria from a kidney infection may spread to the bloodstream, causing a life-threatening condition called septicemia. When kidney infections occur frequently or last a long time, they may cause permanent damage to the kidneys, including kidney scars, poor kidney function, and high blood pressure.",NIHSeniorHealth,Urinary Tract Infections +What causes Urinary Tract Infections ?,"Most urinary tract infections, or UTIs, are caused by bacteria that enter the urethra and then the bladder. A type of bacteria that normally lives in the bowel (called E. coli) causes most UTIs. UTIs can also be caused by fungus (another type of germ). Who Gets UTIs? Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. These include people who have - spinal cord injuries or other nerve damage around the bladder. - a blockage in the urinary tract that can trap urine in the bladder. The blockage can be caused by kidney stones, an enlarged prostate, or a birth defect. - diabetes - problems with the bodys natural defense (or immune) system - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely spinal cord injuries or other nerve damage around the bladder. a blockage in the urinary tract that can trap urine in the bladder. The blockage can be caused by kidney stones, an enlarged prostate, or a birth defect. diabetes problems with the bodys natural defense (or immune) system pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely UTIs in Women More than half of women will have at least one UTI in their lifetime. Women are more likely than men to get UTIs because they have a shorter urethra, making it easier for bacteria to reach the bladder. Also, the bowel and urethral openings are closer together in women than in men, making it easier for E. coli (a bacteria that lives in the bowel) to travel from the bowel to the urethra. Many women suffer from frequent UTIs. Some women have 3 or more UTIs a year. However, very few women will have frequent UTIs throughout their lives. More typically, a woman will have a period of 1 or 2 years with frequent UTIs. After this period, the UTIs may stop or happen less often. Older women are more likely to get UTIs because the bladder muscles weaken and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely. UTIs in Men Men are less likely than women to have a first UTI. But once a man has a UTI, he is likely to have another. Bacteria from a UTI can spread to the prostate. Once there, the bacteria can hide deep inside prostate tissue. Prostate infections are hard to cure because antibiotics may not be able to reach the infected prostate tissue. Activities That Can Increase Risk - Having sex. Sexual activity can move bacteria from the bowel or vaginal cavity to the urethral opening. Urinating after sex lowers the risk of infection. - Using a catheter to urinate. A catheter is a tube placed in the urethra and bladder to help people empty the bladder. The catheter can make a direct path for bacteria to reach the bladder. - Using certain birth controls. Diaphragms can bring bacteria with them when they are placed. Spermicides (a birth control that kills sperm) may also make UTIs more likely. Having sex. Sexual activity can move bacteria from the bowel or vaginal cavity to the urethral opening. Urinating after sex lowers the risk of infection. Using a catheter to urinate. A catheter is a tube placed in the urethra and bladder to help people empty the bladder. The catheter can make a direct path for bacteria to reach the bladder. Using certain birth controls. Diaphragms can bring bacteria with them when they are placed. Spermicides (a birth control that kills sperm) may also make UTIs more likely.",NIHSeniorHealth,Urinary Tract Infections +What are the symptoms of Urinary Tract Infections ?,"Symptoms of a urinary tract infection (UTI) in the bladder may include - cloudy, bloody, or foul-smelling urine - pain or burning during urination - strong and frequent need to urinate, even right after emptying the bladder - a mild fever below 101 degrees Fahrenheit in some people. cloudy, bloody, or foul-smelling urine pain or burning during urination strong and frequent need to urinate, even right after emptying the bladder a mild fever below 101 degrees Fahrenheit in some people. If the UTI spreads to the kidneys, symptoms may include - chills and shaking - night sweats - feeling tired or generally ill - fever above 101 degrees Fahrenheit - pain in the side, back, or groin - flushed, warm, or reddened skin - mental changes or confusion - nausea and vomiting - very bad abdominal pain in some people. chills and shaking night sweats feeling tired or generally ill fever above 101 degrees Fahrenheit pain in the side, back, or groin flushed, warm, or reddened skin mental changes or confusion nausea and vomiting very bad abdominal pain in some people. Symptoms May Vary Symptoms may differ depending on age, gender, and catheter use. In some elderly people, mental changes and confusion may be the only signs of a UTI. Older women and men with a UTI are more likely to be tired, shaky, and weak. They are also more likely to have muscle aches and abdominal pain. In a person with a catheter, the only symptom may be fever that does not have another likely cause. Germs without Symptoms Some people may have germs in the bladder or urinary tract, but not feel any symptoms. If a urine test shows that you have germs in your urine, but you do not feel any symptoms, you may not need any treatment. If you have germs in your urine but you feel okay, talk to your health care provider about whether antibiotics -- the medications that treat UTIs -- are needed. Diagnosis To find out if a person has a UTI, the health care provider will ask about symptoms. He or she will then test a sample of urine. The urine test looks for bacteria that may cause the infection. The urine test also looks for white blood cells, which the body makes to fight infection. Because healthy people sometimes have bacteria in their urine, both bacteria and white blood cells must be in the urine to diagnose a UTI. If a person has UTIs often, the health care provider may order some extra tests to see if the persons urinary tract is normal. (Watch the video to learn more about what to expect when seeking help for a bladder problem. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Urinary Tract Infections +How to prevent Urinary Tract Infections ?,"Changing some of these daily habits may help prevent urinary tract infections (UTIs). - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. - Drink lots of fluids, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) Drink lots of fluids, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) - Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. - Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. - Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Cranberry Juice Drinking cranberry juice or taking cranberry supplements may also help prevent UTIs. Some studies have shown that cranberry products make UTIs less likely, especially in people who get UTIs often. But in other studies, cranberry products did not help.",NIHSeniorHealth,Urinary Tract Infections +What is (are) Urinary Tract Infections ?,"Urinary tract infections (UTI) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Learn more about urinary tract infections in adults.",NIHSeniorHealth,Urinary Tract Infections +What are the symptoms of Urinary Tract Infections ?,"Symptoms of a UTI in the bladder may include - cloudy, bloody, or foul-smelling urine - pain or burning during urination - strong and frequent need to urinate, even right after emptying the bladder - a mild fever below 101 degrees Fahrenheit in some people. cloudy, bloody, or foul-smelling urine pain or burning during urination strong and frequent need to urinate, even right after emptying the bladder a mild fever below 101 degrees Fahrenheit in some people. If the UTI spreads to the kidneys, symptoms may include - chills and shaking - night sweats - feeling tired or generally ill - fever above 101 degrees Fahrenheit - pain in the side, back, or groin - flushed, warm, or reddened skin - mental changes or confusion - nausea and vomiting - very bad abdominal pain in some people. chills and shaking night sweats feeling tired or generally ill fever above 101 degrees Fahrenheit pain in the side, back, or groin flushed, warm, or reddened skin mental changes or confusion nausea and vomiting very bad abdominal pain in some people. Symptoms may differ depending on age, gender, and catheter use. In some elderly people, mental changes and confusion may be the only signs of a UTI. Older women and men with a UTI are more likely to be tired, shaky, and weak. They are also more likely to have muscle aches and abdominal pain. In a person with a catheter, the only symptom may be fever that does not have another likely cause. Learn more about the signs and symptoms of urinary tract infections in adults.",NIHSeniorHealth,Urinary Tract Infections +Who is at risk for Urinary Tract Infections? ?,"Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. These include people who have - spinal cord injuries or other nerve damage around the bladder - a blockage in the urinary tract that can trap urine in the bladder. A blockage in the urinary tract can be caused by kidney stones, an enlarged prostate, or a birth defect. - diabetes - problems with the bodys natural defense (or immune) system - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely. spinal cord injuries or other nerve damage around the bladder a blockage in the urinary tract that can trap urine in the bladder. A blockage in the urinary tract can be caused by kidney stones, an enlarged prostate, or a birth defect. diabetes problems with the bodys natural defense (or immune) system pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely. Learn more about risk factors for urinary tract infections.",NIHSeniorHealth,Urinary Tract Infections +How to prevent Urinary Tract Infections ?,"Changing some of these daily habits may help prevent UTIs. - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. - Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) - Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. - Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. - Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Drinking cranberry juice or taking cranberry supplements also may help prevent UTIs. Some studies have shown that cranberry products make UTIs less likely, especially in people who get UTIs often. But in other studies, cranberry products did not help.",NIHSeniorHealth,Urinary Tract Infections +What are the treatments for Urinary Tract Infections ?,"Because most UTIs are caused by bacteria, bacteria-fighting medications called antibiotics are the usual treatment. The type of antibiotic and length of treatment depend on the patients history and the type of bacteria causing the infection. Bladder infections may eventually get better on their own. But antibiotics can make the symptoms go away much more quickly. People usually feel better within a day or two of starting antibiotics. Drinking lots of fluids and urinating often may also speed healing. If needed, pain-killers can relieve the pain of a UTI. A heating pad on the back or abdomen may also help. Learn more about treating urinary tract infections.",NIHSeniorHealth,Urinary Tract Infections +What is (are) Alcohol Use and Older Adults ?,"Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. Another process, called distillation, concentrates alcohol in the drink making it stronger, producing what are known as distilled spirits.",NIHSeniorHealth,Alcohol Use and Older Adults +What is (are) Alcohol Use and Older Adults ?,"Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. In all states, it is against the law for people to drive if their blood alcohol concentration is above .08. The effects of increased blood alcohol levels can include - reduced inhibitions - slurred speech - motor impairment - confusion - memory problems - concentration problems - coma - breathing problems - death. reduced inhibitions slurred speech motor impairment confusion memory problems concentration problems coma breathing problems death. Learn more about the risks of alcohol overdose.",NIHSeniorHealth,Alcohol Use and Older Adults +What are the symptoms of Alcohol Use and Older Adults ?,"Its not always obvious that someone drinks too much. For older adults, clues to a possible alcohol problem include memory loss, depression, anxiety, poor appetite, unexplained bruises, falls, sleeping problems, and inattention to cleanliness or appearance. Answering ""yes"" to at least one of the following questions is also a sign of a possible drinking problem: - Have you ever felt you should cut down on your drinking? - Have people annoyed you by criticizing your drinking? - Have you ever felt bad or guilty about your drinking? - Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? Have you ever felt you should cut down on your drinking? Have people annoyed you by criticizing your drinking? Have you ever felt bad or guilty about your drinking? Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? If you answered yes to any of these questions, talk with your health care provider. Also seek help if you feel you are having drinking-related problems with your health, relationships, or work.",NIHSeniorHealth,Alcohol Use and Older Adults +What is (are) Alcohol Use and Older Adults ?,"If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once youve stopped drinking. AUD can be a lifelong disease in which people have a strong need to drink, cannot control their drinking once they start, and over time need to drink greater and greater amounts of alcohol to get high. Older adults who develop a severe AUD become physically dependent on alcohol. When they stop drinking, they can get nauseated, sweaty, shaky, and restless. These withdrawal symptoms can cause them to start drinking again to feel better, even though doing so can lead to physical or psychological problems. Learn more about alcohol use disorder.",NIHSeniorHealth,Alcohol Use and Older Adults +What are the treatments for Alcohol Use and Older Adults ?,"There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. A doctor can help a person decide on the best treatment. Making a change sooner rather than later makes treatment more likely to succeed. Learn more about treatment options for alcohol problems. Learn more about available types of alcohol treatment. (Watch the video to learn more about getting help for alcohol use disorder (AUD). To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Alcohol Use and Older Adults +What are the treatments for Alcohol Use and Older Adults ?,"Prescription medicines can help people with alcohol use disorder reduce their drinking, avoid going back to heavy drinking, and get sober. None of them works in every person. There are three medications approved by the U.S. Food and Drug Administration for the treatment of alcohol use disorder. - Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol - Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse - Disulfiram (Antabuse) makes a person feel sick after drinking alcohol. Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse Disulfiram (Antabuse) makes a person feel sick after drinking alcohol.",NIHSeniorHealth,Alcohol Use and Older Adults +What are the treatments for Alcohol Use and Older Adults ?,"Talking about alcohol use with a professional is beneficial to many people. Counseling either one-on-one or in groups can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. There are many kinds of counseling approaches. - cognitive behavior therapy - motivational enhancement therapy - marital and family counseling - brief interventions cognitive behavior therapy motivational enhancement therapy marital and family counseling brief interventions Learn more about each type of behavioral therapy. Counseling can be provided by - primary care doctors - psychiatrists - psychologists - social workers - certified alcohol counselors. primary care doctors psychiatrists psychologists social workers certified alcohol counselors.",NIHSeniorHealth,Alcohol Use and Older Adults +Where to find support for people with Alcohol Use and Older Adults ?,"Many people with alcohol problems find it helpful to talk with others who have faced similar problems. Mutual help groups, such as Alcoholics Anonymous (AA) 12-step programs, help people recover from alcohol use disorder. AA meetings are open to anyone who wants to stop drinking. Attending mutual-help groups is beneficial for many people who want to stop drinking. Many people continue to go to support/mutual help groups even after medical treatment for their alcohol problems ends. There are other mutual help groups available such as Smart Recovery, Life Ring, and Moderation Management. Learn more about available types of treatment for alcohol problems.",NIHSeniorHealth,Alcohol Use and Older Adults +What is (are) Alcohol Use and Older Adults ?,"Some people with an alcohol use disorder are treated in a facility, such as a hospital, mental health center, or substance abuse clinic. Treatment may last as long as several weeks. This type of treatment typically involves detoxification (when a person is weaned from alcohol), medicine, and counseling. Learn more about treatment settings for alcohol problems. Use the Behavioral Health Treatment Services Locator to find a treatment facility.",NIHSeniorHealth,Alcohol Use and Older Adults +What are the treatments for Alcohol Use and Older Adults ?,"Most people with alcohol problems can be treated successfully. People with an alcohol use disorder and those who misuse alcohol and cannot stay within healthy drinking limits should stop drinking altogether. Others can cut back until their drinking is under control. Changing drinking habits isnt easy. Often it takes more than one try to succeed. But people dont have to go it alone. There are plenty of sources of help. (Watch the video to learn more about getting help for alcohol use disorder (AUD). To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) A doctor can help decide the best treatment for people with alcohol problems. Many people need more than one kind of treatment. Medicines can help people with an alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. Making a change sooner rather than later makes treatment more likely to succeed. When treatment is successful, people have longer and longer periods without drinking alcohol. Finally, they are able to stop drinking or stick to healthy drinking limits. But treatment does not always work. Relapse is common among people who overcome alcohol problems. People with drinking problems are most likely to relapse during periods of stress or when exposed to people or places associated with past drinking. Learn more about the treatment process for alcohol use disorder.",NIHSeniorHealth,Alcohol Use and Older Adults +What are the treatments for Alcohol Use and Older Adults ?,Older people with alcohol problems respond to treatment as well as younger people. Some studies suggest that older adults do better when they are treated with other people the same age instead of mixed in with younger adults. Some communities have treatment programs and support groups specifically for older adults.,NIHSeniorHealth,Alcohol Use and Older Adults +What is (are) Osteoarthritis ?,"Affects Many Older People Osteoarthritis is the most common form of arthritis among older people, and it is one of the most frequent causes of physical disability among older adults. The disease affects both men and women. Before age 45, osteoarthritis is more common in men than in women. After age 45, osteoarthritis is more common in women. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease. Osteoarthritis occurs when cartilage, the tissue that cushions the ends of the bones within the joints, breaks down and wears away. In some cases, all of the cartilage may wear away, leaving bones that rub up against each other. Joint Stiffness and Pain Symptoms range from stiffness and mild pain that comes and goes to severe joint pain. Osteoarthritis affects hands, low back, neck, and weight-bearing joints such as knees, hips, and feet. osteoarthritis affects just joints, not internal organs. Hands Osteoarthritis of the hands seems to run in families. If your mother or grandmother has or had osteoarthritis in their hands, youre at greater-than-average risk of having it too. Women are more likely than men to have osteoarthritis in the hands. For most women, it develops after menopause. When osteoarthritis involves the hands, small, bony knobs may appear on the end joints (those closest to the nails) of the fingers. They are called Heberdens (HEBerr-denz) nodes. Similar knobs, called Bouchards (boo-SHARDZ) nodes, can appear on the middle joints of the fingers. Fingers can become enlarged and gnarled, and they may ache or be stiff and numb. The base of the thumb joint also is commonly affected by osteoarthritis. Knees The knees are among the joints most commonly affected by osteoarthritis. Symptoms of knee osteoarthritis include stiffness, swelling, and pain, which make it hard to walk, climb, and get in and out of chairs and bathtubs. Osteoarthritis in the knees can lead to disability. Hips The hips are also common sites of osteoarthritis. As with knee osteoarthritis, symptoms of hip osteoarthritis include pain and stiffness of the joint itself. But sometimes pain is felt in the groin, inner thigh, buttocks, or even the knees. Osteoarthritis of the hip may limit moving and bending, making daily activities such as dressing and putting on shoes a challenge. Spine Osteoarthritis of the spine may show up as stiffness and pain in the neck or lower back. In some cases, arthritis-related changes in the spine can cause pressure on the nerves where they exit the spinal column, resulting in weakness, tingling, or numbness of the arms and legs. In severe cases, this can even affect bladder and bowel function.",NIHSeniorHealth,Osteoarthritis +What causes Osteoarthritis ?,"Risk Increases With Age Researchers suspect that osteoarthritis is caused by a combination of factors in the body and the environment. The chance of developing osteoarthritis increases with age. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease. Wear and Tear on Joints Affects Cartilage Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been previously injured, improper alignment of joints, and excess weight all may contribute to the development of osteoarthritis.",NIHSeniorHealth,Osteoarthritis +What are the symptoms of Osteoarthritis ?,"Pain and Stiffness in Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Osteoarthritis usually develops slowly and can occur in any joint, but often occurs in weight-bearing joints. Early in the disease, joints may ache after physical work or exercise. Most often, osteoarthritis occurs in the hands, hips, knees, neck, or low back. Common Signs Common signs of osteoarthritis include - joint pain, swelling, and tenderness - stiffness after getting out of bed - a crunching feeling or sound of bone rubbing on bone. joint pain, swelling, and tenderness stiffness after getting out of bed a crunching feeling or sound of bone rubbing on bone. Not everyone with osteoarthritis feels pain, however. In fact, only a third of people with x-ray evidence of osteoarthritis report pain or other symptoms. Diagnosis To make a diagnosis of osteoarthritis, most doctors use a combination of methods and tests including a medical history, a physical examination, x-rays, and laboratory tests. - A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time. - A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living. - X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage. A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time. A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living. X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage. Questions Your Doctor May Ask It is important for people with joint pain to give the doctor a complete medical history. Answering these questions will help your doctor make an accurate diagnosis: - Is the pain in one or more joints? - When does the pain occur and how long does it last? - When did you first notice the pain? - Does activity make the pain better or worse? - Have you had any illnesses or accidents that may account for the pain? - Is there a family history of any arthritis or rheumatic diseases? - What medicines are you taking? Is the pain in one or more joints? When does the pain occur and how long does it last? When did you first notice the pain? Does activity make the pain better or worse? Have you had any illnesses or accidents that may account for the pain? Is there a family history of any arthritis or rheumatic diseases? What medicines are you taking? A patient's attitudes, daily activities, and levels of anxiety or depression have a lot to do with how severe the symptoms of osteoarthritis may be. Who Can Provide Care Treating arthritis often requires a multidisciplinary or team approach. Many types of health professionals care for people with arthritis. You may choose a few or more of the following professionals to be part of your health care team. - Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. - Rheumatologists -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. Rheumatologists -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. - Orthopaedists -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. Orthopaedists -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. - Physical therapists -- health professionals who work with patients to improve joint function. Physical therapists -- health professionals who work with patients to improve joint function. - Occupational therapists -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. Occupational therapists -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. - Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. - Nurse educators -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. Nurse educators -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. - Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential. Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential. - Licensed acupuncture therapists -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. Licensed acupuncture therapists -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. - Psychologists -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. Psychologists -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. - Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. - Chiropractors -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. Chiropractors -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. - Massage therapists -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet. Massage therapists -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet.",NIHSeniorHealth,Osteoarthritis +What are the treatments for Osteoarthritis ?,"Treatment Goals: Manage Pain, Improve Function Osteoarthritis treatment plans often include ways to manage pain and improve function. Such plans can include exercise, rest and joint care, pain relief, weight control, medicines, surgery, and non-traditional treatment approaches. Current treatments for osteoarthritis can relieve symptoms such as pain and disability, but right now there are no treatments that can cure osteoarthritis. Exercise: One of the Best Treatments Exercise is one of the best treatments for osteoarthritis. It can improve mood and outlook, decrease pain, increase flexibility, and help you maintain a healthy weight. The amount and form of exercise will depend on which joints are involved, how stable the joints are, whether or not the joint is swollen, and whether a joint replacement has already been done. Ask your doctor or physical therapist what exercises are best for you The following types of exercise are part of a well-rounded arthritis treatment plan. - Strengthening exercises. These exercises strengthen muscles that support joints affected by arthritis. They can be performed with weights or with exercise bands, inexpensive devices that add resistance. - Aerobic activities. These are exercises, such as brisk walking or low-impact aerobics, that get your heart pumping and can keep your lungs and circulatory system in shape. - Range-of-motion activities. These keep your joints limber. - Balance and agility exercises. These help you maintain your balance and reduce the risk of falling. Strengthening exercises. These exercises strengthen muscles that support joints affected by arthritis. They can be performed with weights or with exercise bands, inexpensive devices that add resistance. Aerobic activities. These are exercises, such as brisk walking or low-impact aerobics, that get your heart pumping and can keep your lungs and circulatory system in shape. Range-of-motion activities. These keep your joints limber. Balance and agility exercises. These help you maintain your balance and reduce the risk of falling. To see examples of exercises for older adults, see Exercises to Try or visit Go4Life, the National Institute on Agings exercise and physical activity program for older adults. Weight Control If you are overweight or obese, you should try to lose weight. Weight loss can reduce stress on weight-bearing joints, limit further injury, increase mobility, and reduce the risk of associated health problems. A dietitian can help you develop healthy eating habits. A healthy diet and regular exercise help reduce weight. Rest and Relief from Stress on Joints Treatment plans include regularly scheduled rest. You must learn to recognize the bodys signals, and know when to stop or slow down. This will prevent the pain caused by overexertion. Although pain can make it difficult to sleep, getting proper sleep is important for managing arthritis pain. If you have trouble sleeping, you may find that relaxation techniques, stress reduction, and biofeedback can help. Timing medications to provide maximum pain relief through the night can also help. If joint pain interferes with your ability to sleep or rest, consult your doctor. Some people find relief from special footwear and insoles that can reduce pain and improve walking or from using canes to take pressure off painful joints. They may use splints or braces to provide extra support for joints and/ or keep them in proper position during sleep or activity. Splints should be used only for limited periods of time because joints and muscles need to be exercised to prevent stiffness and weakness. If you need a splint, an occupational therapist or a doctor can help you get a properly fitted one. Non-drug Pain Relief and Alternative Therapies People with osteoarthritis may find many nondrug ways to relieve pain. Below are some examples. - Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) - Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. - Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. - Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. - Nutritional supplements, such as glucosamine and chondroitin sulfate have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Nutritional supplements, such as glucosamine and chondroitin sulfate have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. - Folk remedies. These include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. Folk remedies. These include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information on alternative therapies, see the Complementary Health Approaches topic. Medications Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not relieve pain, then non-steroidal anti-inflammatory drugs such as ibuprofen and naproxen may be used. Some NSAIDs are available over the counter, while more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription. Other medications, including corticosteroids, hyaluronic acid, and topical creams are also used. Reduce the Risks of NSAID Use Most medicines used to treat osteoarthritis have side effects, so it is important for people to learn about the medicines they take. For example, people over age 65 and those with any history of ulcers or stomach bleeding should use non-steroidal anti-inflammatory drugs, or NSAIDs, with caution. There are measures you can take to help reduce the risk of side effects associated with NSAIDs. These include taking medications with food and avoiding stomach irritants such as alcohol, tobacco, and caffeine. In some cases, it may help to take another medication along with an NSAID to coat the stomach or block stomach acids. Although these measures may help, they are not always completely effective. For more tips on how older adults can avoid side effects, see Side Effects in the Taking Medicines topic. Surgery For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following goals. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). - Repositioning of bones (osteotomy). - Resurfacing (smoothing out) bones (joint resurfacing). Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). Repositioning of bones (osteotomy). Resurfacing (smoothing out) bones (joint resurfacing). Joint Replacement Surgeons may replace affected joints with artificial joints called prostheses. These joints can be made from metal alloys, high-density plastic, and ceramic material. Some prostheses are joined to bone surfaces with special cements. Others have porous surfaces and rely on the growth of bone into that surface (a process called biologic fixation) to hold them in place. Artificial joints can last 10 to 15 years or longer. Surgeons choose the design and components of prostheses according to their patients weight, sex, age, activity level, and other medical conditions. Joint replacement advances in recent years have included the ability, in some cases, to replace only the damaged part of the knee joint, leaving undamaged parts of the joint intact, and the ability to perform hip replacement through much smaller incisions than previously possible. For more on joint replacement see the Hip Replacement and Knee Replacement topics. Deciding on Surgery The decision to use surgery depends on several factors, including the patients age, occupation, level of disability, pain intensity, and the degree to which arthritis interferes with his or her lifestyle. After surgery and rehabilitation, the patient usually feels less pain and swelling and can move more easily.",NIHSeniorHealth,Osteoarthritis +What is (are) Osteoarthritis ?,"Osteoarthritis is the most common form of arthritis among older people. It affects hands, low back, neck, and weight-bearing joints such as knees, hips, and feet. Osteoarthritis occurs when cartilage, the tissue that cushions the ends of the bones within the joints, breaks down and wears away. This causes bones to rub together, causing pain, swelling, and loss of motion of the joint.",NIHSeniorHealth,Osteoarthritis +How many people are affected by Osteoarthritis ?,The chance of developing osteoarthritis increases with age. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease.,NIHSeniorHealth,Osteoarthritis +What causes Osteoarthritis ?,"Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been repeatedly injured may lead to the development of osteoarthritis, too. A person who is overweight is more likely to develop osteoarthritis because of too much stress on the joints. Also, improper joint alignment may lead to the development of osteoarthritis.",NIHSeniorHealth,Osteoarthritis +What are the symptoms of Osteoarthritis ?,"Warning signs of osteoarthritis include - joint pain - swelling or tenderness in one or more joints - stiffness after getting out of bed or sitting for a long time - a crunching feeling or sound of bone rubbing on bone. joint pain swelling or tenderness in one or more joints stiffness after getting out of bed or sitting for a long time a crunching feeling or sound of bone rubbing on bone. Not everyone with osteoarthritis develops symptoms. In fact, only a third of people with x-ray evidence of osteoarthritis report pain or other symptoms.",NIHSeniorHealth,Osteoarthritis +How to diagnose Osteoarthritis ?,"No single test can diagnose osteoarthritis. When a person feels pain in his or her joints, it may or may not be osteoarthritis. The doctor will use a combination of tests to try to determine if osteoarthritis is causing the symptoms. These may include a medical history, a physical examination, x-rays, and laboratory tests. A patient's attitudes, daily activities, and levels of anxiety or depression have a lot to do with how much the symptoms of osteoarthritis affect day-to-day living.",NIHSeniorHealth,Osteoarthritis +What are the treatments for Osteoarthritis ?,"Warm towels, hot packs, or a warm bath or shower can provide temporary pain relief. Medications such as non-steroidal anti-inflammatory drugs, or NSAIDs, help reduce pain and inflammation that result from osteoarthritis. A doctor or physical therapist can recommend if heat or cold is the best treatment. For osteoarthritis in the knee, wearing insoles or cushioned shoes may reduce joint stress.",NIHSeniorHealth,Osteoarthritis +What are the treatments for Osteoarthritis ?,"People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Nutritional supplements, such as glucosamine and chondroitin sulfate, have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Folk remedies include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information about alternative therapies, see the Complementary Health Approaches topic.",NIHSeniorHealth,Osteoarthritis +What are the treatments for Osteoarthritis ?,"Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not relieve pain, then non-steroidal anti-inflammatory drugs such as ibuprofen and naproxen may be used. Some NSAIDs are available over the counter, while more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription. Corticosteroids, hyaluronic acid, and topical creams are also used. Most medicines used to treat osteoarthritis have side effects, so it is important for people to learn about the medicines they take. For example, people over age 65 and those with any history of ulcers or stomach bleeding should use non-steroidal anti-inflammatory drugs, or NSAIDs, with caution. There are measures you can take to help reduce the risk of side effects associated with NSAIDs. These include taking medications with food and avoiding stomach irritants such as alcohol, tobacco, and caffeine. In some cases, it may help to take another medication along with an NSAID to coat the stomach or block stomach acids. Although these measures may help, they are not always completely effective. For more tips on how older adults can avoid medication side effects, see Side Effects in the Taking Medicines topic.",NIHSeniorHealth,Osteoarthritis +What are the treatments for Osteoarthritis ?,"For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). - Repositioning of bones (osteotomy). - Resurfacing (smoothing out) bones (joint resurfacing). Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). Repositioning of bones (osteotomy). Resurfacing (smoothing out) bones (joint resurfacing). The decision to use surgery depends on several factors, including the patients age, occupation, level of disability, pain intensity, and the degree to which arthritis interferes with his or her lifestyle. After surgery and rehabilitation, the patient usually feels less pain and swelling and can move more easily.",NIHSeniorHealth,Osteoarthritis +What is (are) Problems with Taste ?,"Taste, or gustation, is one of our most robust senses. Although there is a small decline in taste in people over 60, most older people will not notice it because normal aging does not greatly affect our sense of taste. Problems with taste occur less frequently than problems with smell. How Our Sense of Taste Works Our sense of taste, along with our sense of smell, is part of our chemical sensing system. Normal taste occurs when tiny molecules released by chewing or the digestion of food stimulate special sensory cells in the mouth and throat. These taste cells, or gustatory cells, send messages through three specialized taste nerves to the brain, where specific tastes are identified. Damage to these nerves following head injury can lead to taste loss. The taste cells are clustered within the taste buds of the tongue and roof of the mouth, and along the lining of the throat. Many of the small bumps that can be seen on the tip of the tongue contain taste buds. At birth, we have about 10,000 taste buds scattered on the back, sides, and tip of the tongue. After age 50, we may start to lose taste buds. Five Taste Sensations We can experience five basic taste sensations: sweet, sour, bitter, salty, and umami, or savory. Umami is the taste we get from glutamate, a building block of protein found in chicken broth, meat stock, and some cheeses. Umami is also the taste associated wtih MSG (monosodium glutamate) that is often added to foods as a flavor enhancer. The five taste qualities combine with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. It is flavor that lets us know whether we are eating an apple or a pear. Flavors and the Sense of Smell Many people are surprised to learn that we recognize flavors largely through our sense of smell. Try holding your nose while eating chocolate. You will be able to distinguish between its sweetness and bitterness, but you can't identify the chocolate flavor. That's because the distinguishing characteristic of chocolate is largely identified by our sense of smell as aromas are released during chewing. Food flavor is affected by a head cold or nasal congestion because the aroma of food does not reach the sensory cells that detect odors. More information on this topic can be found in the topic Problems With Smell Smell and Taste Closely Linked Smell and taste are closely linked senses. Many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with smell. It is common for people who lose their sense of smell to say that food has lost its taste. This is incorrect; the food has lost its aroma, but taste remains. In older people, there is a normal decline in the sense of smell and the taste of food shifts toward blandness. This is why people often believe they have a taste problem. When Taste is Impaired Problems with taste can have a big impact on an older person's life. Because taste affects the amount and type of food we eat, when there are problems with taste, a person may change his or her eating habits. Some people may eat too much and gain weight, while others may eat too little and lose weight. A loss of appetite, especially in older adults, can lead to loss of weight, poor nutrition, weakened immunity, and even death. Taste helps us detect spoiled food or liquids and it also helps some people detect ingredients they are allergic to. A problem with taste can weaken or remove an early warning system that most of us take for granted. A distorted sense of taste can be a serious risk factor for illnesses that require sticking to a specific diet. Loss of taste can cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with such illnesses as diabetes or high blood pressure. In severe cases, loss of taste can lead to depression. Taste Problems Are Often Temporary When an older person has a problem with taste, it is often temporary and minor. True taste disorders are uncommon. When a problem with taste exists, it is usually caused by medications, disease, some cancer treatments, or injury. Many older people believe that there is nothing they can do about their weakened sense of taste. If you think you have a problem with your sense of taste, see your doctor. Depending on the cause of your problem, your doctor may be able to suggest ways to regain your sense of taste or to cope with the loss of taste.",NIHSeniorHealth,Problems with Taste +What causes Problems with Taste ?,"Loss of taste may be permanent or temporary, depending on the cause. As with vision and hearing, people gradually lose their ability to taste as they get older, but it is usually not as noticeable as loss of smell. Medications and illness can make the normal loss of taste worse. Common Causes Problems with taste are caused by anything that interrupts the transfer of taste sensations to the brain, or by conditions that affect the way the brain interprets the sensation of taste. Some people are born with taste disorders, but most develop them after an injury or illness. Among the causes of taste problems are - medications - upper respiratory and middle ear infections - radiation for treatment of head and neck cancers - exposure to certain chemicals - head injury - some surgeries - poor oral hygiene and dental problems - smoking. medications upper respiratory and middle ear infections radiation for treatment of head and neck cancers exposure to certain chemicals head injury some surgeries poor oral hygiene and dental problems smoking. In many cases, people regain their sense of taste when they stop taking medications or when the illness or injury clears up. Medications.Taking medications can affect our ability to taste. Some antibiotics and antihistamines as well as other medications can cause a bad taste in the mouth or a loss of taste. One type of taste disorder is characterized by a persistent bad taste in the mouth, such as a bitter or salty taste. This is called dysgeusia and it occurs in older people, usually because of medications or oral health problems. Upper Respiratory and Middle Ear Infections. Respiratory infections such as the flu can lead to taste disorders. Radiation for Head and Neck Cancers. People with head and neck cancers who receive radiation treatment to the nose and mouth regions commonly experience problems with their sense of smell and taste as an unfortunate side effect. Older people who have lost their larynx or voice box commonly complain of poor ability to smell and taste. Exposure to Certain Chemicals. Sometimes exposure to certain chemicals, such as insecticides and solvents, can impair taste. Avoid contact with these substances, and if you do come in contact with them and experience a problem, see your doctor. Head Injury. Previous surgery or trauma to the head can impair your sense of taste because the taste nerves may be cut, blocked or physically damaged. Some Surgeries. Some surgeries to the ear nose and throat can impair taste. These include third molarwisdom toothextraction and middle ear surgery. Poor Oral Hygiene and Dental Problems. Gum disease can cause problems with taste and so can can dentures and inflammation or infections in the mouth. If you take several medications, your mouth may produce less saliva. This causes dry mouth, which can make swallowing and digestion difficult and increase dental problems. Practice good oral hygiene, keep up to date with your dental appointments, and tell your dentist if you notice any problems with your sense of taste. Smoking. Tobacco smoking is the most concentrated form of pollution that most people are exposed to. Smokers often report an improved sense of taste after quitting. When To See the Doctor Be sure to see your doctor if you have had a taste problem for a while or if you notice that your problem with taste is associated with other symptoms. Let your doctor know if you are taking any medications that might affect your sense of taste. You may be able to change or adjust your medicine to one that will not cause a problem with taste. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects.",NIHSeniorHealth,Problems with Taste +What are the symptoms of Problems with Taste ?,"Symptoms Vary With Disorders There are several types of taste disorders depending on how the sense of taste is affected. People who have taste disorders usually lose their ability to taste or can no longer perceive taste in the same way. True taste disorders are rare. Most changes in the perception of food flavor result from the loss of smell. Phantom Taste Perception. The most common taste complaint is ""phantom taste perception"" -- tasting something when nothing is in the mouth. Hypogeusia. Some people have hypogeusia, or the reduced ability to taste sweet, sour, bitter, salty, and savory, or umami. This disorder is usually temporary. Dysgeusia. Dysgeusia is a condition in which a foul, salty, rancid, or metallic taste sensation will persist in the mouth. Dysgeusia is sometimes accompanied by burning mouth syndrome, a condition in which a person experiences a painful burning sensation in the mouth. Although it can affect anyone, burning mouth syndrome is most common in middle-aged and older women. Ageusia. Other people can't detect taste at all, which is called ageusia. This type of taste disorder can be caused by head trauma; some surgical procedures, such as middle ear surgery or extraction of the third molar; radiation therapy; and viral infections. Why a Diagnosis Is Important If you think you have a taste disorder, see your doctor. Loss of the sense of taste can lead to depression and a reduced desire to eat. Loss of appetite can lead to loss of weight, poor nutrition and weakened immunity. In some cases, loss of taste can accompany or signal conditions such as diabetes. Sometimes, a problem with taste can be a sign of a disease of the nervous system, such multiple sclerosis, Alzheimer's disease, or Parkinsons disease. Do You Have a Taste Disorder? If you think you have a taste disorder, try to identify and record the circumstances surrounding it. Ask yourself the following questions: - When did I first become aware of it? - What changes in my taste do I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? - Have I recently had a cold or the flu? When did I first become aware of it? What changes in my taste do I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? Have I recently had a cold or the flu? Talking With Your Doctor Bring this information with you when you visit the doctor. He or she may refer you to an otolaryngologist, a specialist in diseases of the ear, nose, and throat. An accurate assessment of your taste loss will include, among other things - a physical examination of your ears, nose, and throat - a dental examination and assessment of oral hygiene - a review of your health history - a taste test supervised by a health care professional. a physical examination of your ears, nose, and throat a dental examination and assessment of oral hygiene a review of your health history a taste test supervised by a health care professional. Tests for Taste Disorders Some tests are designed to measure the lowest concentration of a substance that a person can detect or recognize. Your doctor may ask you to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which the patient responds to different concentrations of a substance. This may involve a simple ""sip, spit, and rinse"" test or the application of a substance directly to your tongue using an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is. If your doctor suspects that nerves in your mouth or head may be affected, he or she may order an X-ray, usually a CAT scan, to look further into the head and neck area. Once the cause of a taste disorder is found, your doctor may be able to treat it. Many types of taste disorders are reversible, but if not, counseling and self-help techniques may help you cope.",NIHSeniorHealth,Problems with Taste +What are the treatments for Problems with Taste ?,"Relief Is Possible Although there is no treatment for any gradual loss of taste that occurs with aging, relief from taste disorders is possible for many older people. Depending on the cause of your problem with taste, your doctor may be able to treat it or suggest ways to cope with it. Scientists are studying how loss of taste occurs so that treatments can be developed. Some patients regain their sense of taste when the condition or illness that is causing the loss of taste is over. For example, a middle ear infection often affects taste temporarily. Often, correcting the general medical problem can restore the sense of taste. Check Your Medications Often, a certain medication is the cause of a taste disorder, and stopping or changing the medicine may help eliminate the problem. If you take medications, ask your doctor if they can affect your sense of taste. If so, ask if you can take other medications or safely reduce the dose. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicines you need while trying to reduce unwanted side effects. If Your Diet Is Affected Because your sense of taste may gradually decline, you may not even notice the change. But your diet may change, and not for the better. You may lose interest in food and eat less, but you may choose foods that are high in fat and sugars. Or, you may eat more than you should, hoping to get more flavor from every bite. If you lose some or all of your sense of taste, there are things you can do to make your food taste better: - Prepare foods with a variety of colors and textures - Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food - If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts - Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. Prepare foods with a variety of colors and textures Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. If Your Sense of Taste Does Not Return If you cannot regain your sense of taste, there are things you can do to ensure your safety. Take extra care to avoid food that may have spoiled. If you live with other people, ask them to smell and taste food to make sure it is fresh. People who live alone should discard food if there is a chance it is spoiled. For those who wish to have additional help, there may be support groups in your area. These are often associated with smell and taste clinics in medical school hospitals. Some online bulletin boards also allow people with smell and taste disorders to share their experiences. Not all people with taste disorders will regain their sense of taste, but most can learn to live with it.",NIHSeniorHealth,Problems with Taste +what research (or clinical trials) is being done for Problems with Taste ?,"The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell - develop new diagnostic tests - understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses - improve treatment methods and rehabilitation strategies. prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies. Studies on Aging and Taste A recent NIDCD-funded study has shown that small variations in our genetic code can raise or lower our sensitivity to sweet tastes, which might influence a persons desire for sweets. Scientists have also made progress in understanding how our sense of taste changes as we age. Older adults often decide what to eat based on how much they like or dislike certain tastes. Scientists are looking at how and why this happens in order to develop more effective ways to help older people cope better with taste problems. Studies on Taste Receptors Some of the most recent chemosensory research focuses on identifying the key receptors expressed by our taste cells and understanding how those receptors send signals to the brain. Researchers are also working to develop a better understanding of how sweet and bitter substances attach to their targeted receptors. This research holds promise for the development of sugar or salt substitutes that could help combat obesity or hypertension, as well as the development of bitter blockers that could make life-saving medicines more acceptable to children. Taste cellsas well as sensory cells that help us smellare the only sensory cells in the human body that are regularly replaced throughout life. Researchers are exploring how and why this happens so that they might find ways to replace other damaged sensory cells. Gut and Sweet Receptors Scientists are gaining a better understanding of why the same receptor that helps our tongue detect sweet taste can also be found in the human gut. Recent research has shown that the sweet receptor helps the intestine to sense and absorb sugar and turn up the production of blood sugar-regulation hormones, including the hormone that regulates insulin release. Further research may help scientists develop drugs targeting the gut taste receptors to treat obesity and diabetes. Effects of Medications on Taste Scientists are also working to find out why some medications and medical procedures can have a harmful effect on our senses of taste and smell. They hope to develop treatments to help restore the sense of taste to people who have lost it.",NIHSeniorHealth,Problems with Taste +What is (are) Problems with Taste ?,"Taste is the ability to detect different sensations in the mouth, such as sweet or salty. It is part of your body's chemical sensing system. Taste combines with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor.",NIHSeniorHealth,Problems with Taste +How many people are affected by Problems with Taste ?,"Roughly 200,000 people each year visit a doctor for a chemosensory problem such as a taste disorder. Many more taste disorders go unreported.",NIHSeniorHealth,Problems with Taste +What causes Problems with Taste ?,"The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. Other causes are radiation therapy for head and neck cancers, smoking, and some surgeries.",NIHSeniorHealth,Problems with Taste +How to prevent Problems with Taste ?,"Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. - Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. - Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov",NIHSeniorHealth,Problems with Taste +What causes Problems with Taste ?,"Yes. Certain medicines can cause a change in our ability to taste. The medicines that most frequently do this are certain antibiotics and some antihistamines, although other medications can affect our sense of taste as well. If your medicine is causing a problem with your sense of taste, your doctor may be able to adjust or change your medicine. If not, he or she may suggest ways to manage your problem. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects.",NIHSeniorHealth,Problems with Taste +How to diagnose Problems with Taste ?,"Doctors can diagnose a taste disorder by measuring the lowest concentration of a substance that a person can detect. The doctor may also ask a patient to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which a person responds to different concentrations of a substance. This may involve a simple ""sip, spit, and rinse"" test, or the application of a substance directly to the tongue with an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is.",NIHSeniorHealth,Problems with Taste +What are the treatments for Problems with Taste ?,"Depending on the cause of your taste disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the problem, your doctor may be able to adjust or change your medicine. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections regain their sense of taste when the illness is over. Often, correcting a general medical problem can restore the sense of taste. Occasionally, the sense of taste returns to normal on its own without any treatment.",NIHSeniorHealth,Problems with Taste +What is (are) Problems with Taste ?,You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my taste problem? - What changes in my sense of taste did I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? - Have I recently had a cold or the flu? When did I first become aware of my taste problem? What changes in my sense of taste did I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? Have I recently had a cold or the flu?,NIHSeniorHealth,Problems with Taste +what research (or clinical trials) is being done for Problems with Taste ?,"The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell - develop new diagnostic tests - understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses - improve treatment methods and rehabilitation strategies. prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies.",NIHSeniorHealth,Problems with Taste +What is (are) Anxiety Disorders ?,"Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. These feelings can interfere with daily activities such as job performance, school work, and relationships. (Watch the video to learn about the types of anxiety disorders. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Anxiety Disorders in Older Adults Studies estimate that anxiety disorders affect up to 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. There are three types of anxiety disorders discussed here. - generalized anxiety disorder - social phobia - panic disorder generalized anxiety disorder social phobia panic disorder Generalized Anxiety Disorder (GAD) All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks. Learn more about generalized anxiety disorder (GAD). Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands, or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. Learn more about social phobia. Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. Learn more about panic disorder. Anxiety Disorders Are Treatable In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the type of disorder, the persons preference, and the expertise of the doctor. If you think you have an anxiety disorder, talk to your doctor.",NIHSeniorHealth,Anxiety Disorders +What are the symptoms of Anxiety Disorders ?,"Excessive, Irrational Fear Each anxiety disorder has different symptoms, but all the symptoms cluster around excessive, irrational fear and dread. Unlike the relatively mild, brief anxiety caused by a specific event (such as speaking in public or a first date), severe anxiety that lasts at least six months is generally considered to be problem that might benefit from evaluation and treatment. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. Symptoms of Generalized Anxiety Disorder (GAD) GAD develops slowly. It often starts during the teen years or young adulthood. Symptoms may get better or worse at different times, and often are worse during times of stress. People with GAD cant seem to get rid of their concerns, even though they usually realize that their anxiety is more intense than the situation warrants. They cant relax, startle easily, and have difficulty concentrating. Often they have trouble falling asleep or staying asleep. Physical symptoms that often accompany the anxiety include - fatigue - headaches - muscle tension - muscle aches - difficulty swallowing - trembling - twitching - irritability - sweating - nausea - lightheadedness - having to go to the bathroom frequently - feeling out of breath - hot flashes. fatigue headaches muscle tension muscle aches difficulty swallowing trembling twitching irritability sweating nausea lightheadedness having to go to the bathroom frequently feeling out of breath hot flashes. When their anxiety level is mild, people with GAD can function socially and hold down a job. Although they dont avoid certain situations as a result of their disorder, people with GAD can have difficulty carrying out the simplest daily activities if their anxiety is severe. Symptoms of Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. People with social phobia tend to - be very anxious about being with other people and have a hard time talking to them, even though they wish they could - be very self-conscious in front of other people and feel embarrassed - be very afraid that other people will judge them - worry for days or weeks before an event where other people will be - stay away from places where there are other people - have a hard time making friends and keeping friends - blush, sweat, or tremble around other people - feel nauseous or sick to their stomach when with other people. be very anxious about being with other people and have a hard time talking to them, even though they wish they could be very self-conscious in front of other people and feel embarrassed be very afraid that other people will judge them worry for days or weeks before an event where other people will be stay away from places where there are other people have a hard time making friends and keeping friends blush, sweat, or tremble around other people feel nauseous or sick to their stomach when with other people. Symptoms of Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. People with panic disorder may have - sudden and repeated attacks of fear - a feeling of being out of control during a panic attack - an intense worry about when the next attack will happen - a fear or avoidance of places where panic attacks have occurred in the past - physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. sudden and repeated attacks of fear a feeling of being out of control during a panic attack an intense worry about when the next attack will happen a fear or avoidance of places where panic attacks have occurred in the past physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. Seeking Treatment Anxiety disorders are treatable. If you think you have an anxiety disorder, talk to your doctor. If your doctor thinks you may have an anxiety disorder, the next step is usually seeing a mental health professional. It is advisable to seek help from professionals who have particular expertise in diagnosing and treating anxiety. Certain kinds of cognitive and behavioral therapy and certain medications have been found to be especially helpful for anxiety.",NIHSeniorHealth,Anxiety Disorders +How to diagnose Anxiety Disorders ?,"Anxiety disorders sometimes run in families, but no one knows for sure why some people have them while others don't. Anxiety disorders are more common among younger adults than older adults, and they typically start in early life. However, anyone can develop an anxiety disorder at any time. Below are risk factors for these anxiety disorders. - Generalized Anxiety Disorder (GAD) - Social Anxiety Disorder (Social Phobia) - Panic Disorder Generalized Anxiety Disorder (GAD) Social Anxiety Disorder (Social Phobia) Panic Disorder Generalized Anxiety Disorder - Risk Factors Generalized anxiety disorder (GAD) affects about 6.8 million American adults, including twice as many women as men. The disorder develops gradually and can begin at any point in the life cycle, although the years of highest risk are between childhood and middle age. The average age of onset is 31 years old. Social Phobia - Risk Factors Social phobia affects about 15 million American adults. Women and men are equally likely to develop the disorder, which usually begins in childhood or early adolescence. There is some evidence that genetic factors are involved. Panic Disorder - Risk Factors Panic disorder affects about 6 million American adults and is twice as common in women as men. Panic attacks often begin in late adolescence or early adulthood, but not everyone who experiences panic attacks will develop panic disorder. Many people have just one attack and never have another. The tendency to develop panic attacks appears to be inherited. Diagnosis Can Be Difficult There are a number of reasons why it can be difficult to accurately diagnose an anxiety disorder in older adults. - Anxiety disorders among older adults frequently occur at the same time as other illnesses such as depression, diabetes, heart disease, or a number of other medical illnesses. Problems with cognition (thinking) and changes in life circumstances can also complicate matters. Sometimes the physical signs of these illnesses can get mixed up with the symptoms of anxiety, making it difficult to determine if a person has a true anxiety disorder. For instance, a person with heart disease sometimes has chest pain, which can also be a symptom of a panic disorder. Anxiety disorders among older adults frequently occur at the same time as other illnesses such as depression, diabetes, heart disease, or a number of other medical illnesses. Problems with cognition (thinking) and changes in life circumstances can also complicate matters. Sometimes the physical signs of these illnesses can get mixed up with the symptoms of anxiety, making it difficult to determine if a person has a true anxiety disorder. For instance, a person with heart disease sometimes has chest pain, which can also be a symptom of a panic disorder. - Doctors can have difficulty distinguishing between anxiety caused by adapting to difficult life changes, and a true anxiety disorder. For example, if you fell and broke a hip, you may be justifiably fearful of going out for a while. But that would not mean you have developed an anxiety disorder. Doctors can have difficulty distinguishing between anxiety caused by adapting to difficult life changes, and a true anxiety disorder. For example, if you fell and broke a hip, you may be justifiably fearful of going out for a while. But that would not mean you have developed an anxiety disorder. - Sometimes the worrying symptoms of a medical illness can lead to an anxiety disorder. Or, sometimes the side effects of medication can cause anxiety. Also, a disability or a change in lifestyle caused by a medical illness may lead to an anxiety disorder. Muscle tightness, feeling very tense all the time, and difficulty sleeping can also be symptoms of a physical illness or an anxiety disorder, complicating diagnosis. Sometimes the worrying symptoms of a medical illness can lead to an anxiety disorder. Or, sometimes the side effects of medication can cause anxiety. Also, a disability or a change in lifestyle caused by a medical illness may lead to an anxiety disorder. Muscle tightness, feeling very tense all the time, and difficulty sleeping can also be symptoms of a physical illness or an anxiety disorder, complicating diagnosis. Diagnosis Here is how these anxiety disorders are diagnosed. - Generalized Anxiety Disorder (GAD) - Panic Disorder - Social Anxiety Disorder (Social Phobia) Generalized Anxiety Disorder (GAD) Panic Disorder Social Anxiety Disorder (Social Phobia) Generalized Anxiety Disorder (GAD) - Diagnosis GAD can be diagnosed once a person worries excessively about a variety of everyday problems for at least 6 months. People with GAD may visit a doctor many times before they find out they have this disorder. They ask their doctors to help them with headaches or trouble falling asleep, which can be symptoms of GAD, but they don't always get the help they need right away. It may take doctors some time to be sure that a person has GAD instead of something else. Social Phobia - Diagnosis A doctor can tell that a person has social phobia if the person has had symptoms for at least 6 months. Social phobia usually starts during youth. Without treatment, it can last for many years or a lifetime. Panic Disorder - Diagnosis People with panic disorder may sometimes go from doctor to doctor for years and visit the emergency room repeatedly before someone correctly diagnoses their condition. This is unfortunate, because panic disorder is one of the most treatable of all the anxiety disorders, responding in most cases to certain kinds of medication or certain kinds of cognitive psychotherapy, which help change thinking patterns that lead to fear and anxiety. If You Have Symptoms Anxiety disorders are treatable. If you think you have an anxiety disorder, talk to your family doctor. Your doctor should do an exam to make sure that another physical problem isn't causing the symptoms. The doctor may refer you to a mental health specialist. You should feel comfortable talking with the mental health specialist you choose. If you do not, seek help elsewhere. Once you find a mental health specialist you are comfortable with, you should work as a team and make a plan to treat your anxiety disorder together. Talk About About Past Treatment People with anxiety disorders who have already received treatment for an anxiety disorder should tell their doctor about that treatment in detail. If they received medication, they should tell their doctor what medication was used, what the dosage was at the beginning of treatment, whether the dosage was increased or decreased while they were under treatment, what side effects may have occurred, and whether the treatment helped them become less anxious. If they received psychotherapy, they should describe the type of therapy, how often they attended sessions, and whether the therapy was useful.",NIHSeniorHealth,Anxiety Disorders +what research (or clinical trials) is being done for Anxiety Disorders ?,"Clinical trials are part of clinical research and at the heart of all treatment advances. Clinical trials look at new ways to prevent, detect, or treat disease. The National Institute of Mental Health at NIH supports research studies on mental health and disorders. To learn how clinical trials work, see Participating in Clinical Trials. To see NIH-funded studies currently recruiting participants in anxiety disorders, visit www.ClinicalTrials.gov and type in ""anxiety disorders."" Clinical Trials.gov is the NIH/National Library of Medicine's registry of federally and privately funded clinical trials for all disease. To see personal stories of people who have volunteered for clinical trials, visit NIH Clinical Trials Research and You.",NIHSeniorHealth,Anxiety Disorders +How many people are affected by Anxiety Disorders ?,Studies estimate that anxiety disorders affect around 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging.,NIHSeniorHealth,Anxiety Disorders +What is (are) Anxiety Disorders ?,"Anxiety disorders are a collection of disorders that include generalized anxiety disorder (GAD), social phobia, and panic disorder.",NIHSeniorHealth,Anxiety Disorders +What is (are) Anxiety Disorders ?,"All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks. People with GAD cant seem to get rid of their concerns, even though they usually realize that their anxiety is more intense than the situation warrants. They cant relax, startle easily, and have difficulty concentrating. Often they have trouble falling asleep or staying asleep. Physical symptoms that often accompany the anxiety include fatigue, headaches, muscle tension, muscle aches, difficulty swallowing, trembling, twitching, irritability, sweating, nausea, lightheadedness, having to go to the bathroom frequently, feeling out of breath, and hot flashes. When their anxiety level is mild, people with GAD can function socially and hold down a job. Although they dont avoid certain situations as a result of their disorder, people with GAD can have difficulty carrying out the simplest daily activities if their anxiety is severe. Learn more about generalized anxiety disorder (GAD).",NIHSeniorHealth,Anxiety Disorders +What is (are) Anxiety Disorders ?,"In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. People with social phobia tend to - be very anxious about being with other people and have a hard time talking to them, even though they wish they could - be very self-conscious in front of other people and feel embarrassed - be very afraid that other people will judge them - worry for days or weeks before an event where other people will be - stay away from places where there are other people - have a hard time making friends and keeping friends - blush, sweat, or tremble around other people - feel nauseous or sick to their stomach when with other people. be very anxious about being with other people and have a hard time talking to them, even though they wish they could be very self-conscious in front of other people and feel embarrassed be very afraid that other people will judge them worry for days or weeks before an event where other people will be stay away from places where there are other people have a hard time making friends and keeping friends blush, sweat, or tremble around other people feel nauseous or sick to their stomach when with other people. Learn more about social phobia.",NIHSeniorHealth,Anxiety Disorders +What is (are) Anxiety Disorders ?,"In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. People with panic disorder may have - sudden and repeated attacks of fear - a feeling of being out of control during a panic attack - an intense worry about when the next attack will happen - a fear or avoidance of places where panic attacks have occurred in the past - physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. sudden and repeated attacks of fear a feeling of being out of control during a panic attack an intense worry about when the next attack will happen a fear or avoidance of places where panic attacks have occurred in the past physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. Learn more about panic disorder.",NIHSeniorHealth,Anxiety Disorders +Who is at risk for Anxiety Disorders? ?,"Generalized anxiety disorder (GAD) affects about 6.8 million American adults, including twice as many women as men. The disorder develops gradually and can begin at any point in the life cycle, although the years of highest risk are between childhood and middle age. The average age of onset is 31 years old. Social phobia affects about 15 million American adults. Women and men are equally likely to develop the disorder, which usually begins in childhood or early adolescence. There is some evidence that genetic factors are involved. Panic disorder affects about 6 million American adults and is twice as common in women as men. Panic attacks often begin in late adolescence or early adulthood, but not everyone who experiences panic attacks will develop panic disorder. Many people have just one attack and never have another. The tendency to develop panic attacks appears to be inherited.",NIHSeniorHealth,Anxiety Disorders +What are the treatments for Anxiety Disorders ?,"Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you dont have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. If you are on public assistance, you may be able to get care through your state Medicaid plan. To learn about more mental health resources, see Help for Mental Illness, from the National Institute of Mental Health at NIH.",NIHSeniorHealth,Anxiety Disorders +What is (are) Anxiety Disorders ?,"Cognitive behavioral therapy (CBT) is a type of psychotherapy that is very useful in treating anxiety disorders. It can help people change the thinking patterns that support their fears and change the way they react to anxiety-provoking situations. For example, cognitive behavioral therapy can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. When people are ready to confront their fears, they are shown how to use exposure techniques to desensitize themselves to situations that trigger their anxieties.",NIHSeniorHealth,Anxiety Disorders +What are the treatments for Anxiety Disorders ?,"Exposure-based treatment has been used for many years to treat specific phobias. The person gradually encounters the object or situation that is feared, perhaps at first only through pictures or tapes, then later face-to-face. Sometimes the therapist will accompany the person to a feared situation to provide support and guidance. Exposure exercises are undertaken once the patient decides he is ready for it and with his cooperation. To be effective, therapy must be directed at the persons specific anxieties and must be tailored to his or her needs. A typical side effect is temporary discomfort involved with thinking about confronting feared situations.",NIHSeniorHealth,Anxiety Disorders +What is (are) Diabetes ?,"Too Much Glucose in the Blood Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries the glucose to all of the cells in your body. Insulin is a chemical (a hormone) made by the pancreas. The pancreas releases insulin into the blood. Insulin helps the glucose from food get into your cells. If your body does not make enough insulin or if the insulin doesn't work the way it should, glucose can't get into your cells. It stays in your blood instead. Your blood glucose level then gets too high, causing pre-diabetes or diabetes. Types of Diabetes There are three main kinds of diabetes: type 1, type 2, and gestational diabetes. The result of type 1 and type 2 diabetes is the same: glucose builds up in the blood, while the cells are starved of energy. Over the years, high blood glucose damages nerves and blood vessels, oftentimes leading to complications such as heart disease, stroke, blindness, kidney disease, nerve problems, gum infections, and amputation. Type 1 Diabetes Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Type 2 Diabetes Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here. Gestational Diabetes Some women develop gestational diabetes during the late stages of pregnancy. Gestational diabetes is caused by the hormones of pregnancy or a shortage of insulin. Although this form of diabetes usually goes away after the baby is born, a woman who has had it and her child are more likely to develop diabetes later in life. Prediabetes Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here. Signs of Diabetes Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all. How Many Have Diabetes? Nearly 29 million Americans age 20 or older (12.3 percent of all people in this age group) have diabetes, according to 2014 estimates from the Centers for Disease Control and Prevention (CDC). About 1.9 million people aged 20 years or older were newly diagnosed with diabetes in 2010 alone. People can get diabetes at any age, but the risk increases as we get older. In 2014, over 11 million older adults living in the U.S -- nearly 26 percent of people 65 or older -- had diabetes. See more statistics about diabetes from the National Diabetes Statistics Report 2014. (Centers for Disease Control and Prevention.) If Diabetes is Not Managed Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, heart, gums and teeth. If you have diabetes, you are more likely than people without diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or stroke at an earlier age than others. The best way to protect yourself from the serious complications of diabetes is to manage your blood glucose, blood pressure and cholesterol and to avoid smoking. It is not always easy, but people who make an ongoing effort to manage their diabetes can greatly improve their overall health.",NIHSeniorHealth,Diabetes +Who is at risk for Diabetes? ?,"Diabetes is a serious, life-long disease. It can lead to problems such as heart disease, stroke, vision loss, kidney disease, and nerve damage. More than 8 million people in the United States have type 2 diabetes and dont know it. Many people dont find out they have diabetes until they are faced with problems such as blurry vision or heart trouble. Certain factors can increase your risk for diabetes, and its important to know what they are. Type 1 Diabetes Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the bodys own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the cells, but many believe that both genetic factors and environmental factors, such as viruses, are involved. Studies are now underway to identify these factors and prevent type 1 diabetes in people at risk. Learn more about the causes of type 1 diabetes. Type 2 Diabetes Type 2 diabetes -- the most common form -- is linked closely to overweight and obesity, high blood pressure, and abnormal cholesterol levels. Many people with type 2 diabetes are overweight. Being overweight can keep your body from using insulin properly. Genes also play an important role in a person's risk for type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) being over 45 years of age being overweight or obese having a first-degree relative -- a parent, brother, or sister -- with diabetes being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds - having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. - having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher - being inactive or exercising fewer than three times a week. - having polycystic ovary syndrome, also called PCOS (women only) - on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) - history of cardiovascular disease (disease affecting the heart and blood vessels). having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher being inactive or exercising fewer than three times a week. having polycystic ovary syndrome, also called PCOS (women only) on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) history of cardiovascular disease (disease affecting the heart and blood vessels). Learn more about the causes of type 2 diabetes. Prediabetes and Type 2 Diabetes Before people develop type 2 diabetes, they usually have prediabetes -- a condition in which blood glucose levels are higher than normal, but not high enough for a diagnosis of diabetes. People with prediabetes are more likely to develop diabetes within 10 years and also are more likely to have a heart attack or stroke. Prediabetes is increasingly common in the U.S. adult population. In 2012, about 86 million people in the U.S. had pre-diabetes, and 51% of those 65 or older had prediabetes. Learn more about prediabetes. Gestational Diabetes Some women develop diabetes during the late stages of pregnancy. This is called gestational diabetes. Although this form of diabetes usually goes away after the baby is born, a woman who has had it has a lifelong risk for developing diabetes, mostly type 2.",NIHSeniorHealth,Diabetes +How to prevent Diabetes ?,"The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that type 2 diabetes can be prevented or delayed in people at risk for the disease. Preventing type 2 diabetes can mean a healthier and longer life without serious complications from the disease such as heart disease, stroke, blindness, kidney failure, and amputations. Preventing Type 2 Diabetes Before people develop type 2 diabetes, they usually have prediabetes -- a condition in which blood glucose levels are higher than normal, but not yet high enough for a diagnosis of diabetes. The good news is that if you have prediabetes, there are ways to reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes Benefits of Weight Loss and Exercise The Diabetes Prevention Program (DPP) is a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases. DPP researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The drug metformin reduced the risk of type 2 diabetes by 34 percent but was more effective in younger and heavier adults. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) The benefits of weight loss and regular exercise have long-lasting value. In a DPP follow-up trial known as the Diabetes Prevention Program Outcome Study (DPPOS), people at risk of type 2 diabetes who kept off the weight they had lost and who continued to exercise regularly delayed the onset of type 2 diabetes by about 4 years. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. How to Lower Your Risk Making modest lifestyle changes can help prevent or delay type 2 diabetes in people who are at risk. Here are some tips. Reach and Maintain a Reasonable Body Weight Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. It can also cause high blood pressure. The Body Mass Index chart (seen here) can be used to find out whether someone is normal weight, overweight, or obese. Body mass index is a measurement of body weight relative to height for adults age 20 or older. To use the chart - find the person's height in the left-hand column - move across the row to find the number closest to the person's weight - find the number at the top of that column - The number at the top of the column is the persons BMI. find the person's height in the left-hand column move across the row to find the number closest to the person's weight find the number at the top of that column The number at the top of the column is the persons BMI. The words above the BMI number indicate whether the person is normal weight, overweight, or obese. People who are overweight or obese should consider talking with a health care provider about ways to lose weight and reduce the risk of diabetes. The BMI has certain limitations. The BMI may overestimate body fat in athletes and others who have a muscular build and underestimate body fat in older adults and others who have lost muscle. Waist Measurement. In addition to weight, the location of excess fat on the body can be important. A waist measurement of 40 inches or more for men and 35 inches or more for women is linked to insulin resistance and increases a persons risk for type 2 diabetes. This is true even if a persons body mass index (BMI) falls within the normal range. To measure the waist, a person should - place a tape measure around the bare abdomen just above the hip bone - make sure the tape is snug but isnt digging into the skin and is parallel to the floor - relax, exhale, and measure. place a tape measure around the bare abdomen just above the hip bone make sure the tape is snug but isnt digging into the skin and is parallel to the floor relax, exhale, and measure. Make Healthy Food Choices What you eat has a big impact on your weight and overall health. By developing healthy eating habits, you can help manage your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. Here are more tips for eating well with diabetes. - Make a diabetes meal plan with help from your health care team. - Choose foods that are lower in calories, saturated fat, trans fat, sugar, and salt. - Eat foods with more fiber, such as whole grain cereals, breads, crackers, rice, or pasta. - Choose foods such as fruits, vegetables, whole grains, bread and cereals, and low-fat or skim milk and cheese. - Drink water instead of juice and regular soda. - When eating a meal, fill half of your plate with fruits and vegetables, one quarter with a lean protein, such as beans, or chicken or turkey without the skin, and one quarter with a whole grain, such as brown rice or whole wheat pasta. Make a diabetes meal plan with help from your health care team. Choose foods that are lower in calories, saturated fat, trans fat, sugar, and salt. Eat foods with more fiber, such as whole grain cereals, breads, crackers, rice, or pasta. Choose foods such as fruits, vegetables, whole grains, bread and cereals, and low-fat or skim milk and cheese. Drink water instead of juice and regular soda. When eating a meal, fill half of your plate with fruits and vegetables, one quarter with a lean protein, such as beans, or chicken or turkey without the skin, and one quarter with a whole grain, such as brown rice or whole wheat pasta. For more about healthy eating and older adults see ""Eating Well as You Get Older."" Be Physically Active Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways. It - helps you lose weight - controls your cholesterol and blood pressure - improves your body's use of insulin. helps you lose weight controls your cholesterol and blood pressure improves your body's use of insulin. Many people make walking part of their daily routine because its easy, fun and convenient. But you can choose any activity that gets you moving. Its fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program. Many people make walking part of their daily routine because its easy, fun and convenient. But you can choose any activity that gets you moving. Its fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program. For more information on exercise and older adults, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.",NIHSeniorHealth,Diabetes +What are the symptoms of Diabetes ?,"Diabetes is often called a ""silent"" disease because it can cause serious complications even before you have symptoms. Symptoms can also be so mild that you dont notice them. An estimated 8 million people in the United States have type 2 diabetes and dont know it, according to 2012 estimates by the Centers for Disease Control and Prevention (CDC). Common Signs Some common symptoms of diabetes are: - being very thirsty - frequent urination - feeling very hungry or tired - losing weight without trying - having sores that heal slowly - having dry, itchy skin - loss of feeling or tingling in the feet - having blurry eyesight. being very thirsty frequent urination feeling very hungry or tired losing weight without trying having sores that heal slowly having dry, itchy skin loss of feeling or tingling in the feet having blurry eyesight. Signs of type 1 diabetes usually develop over a short period of time. The signs for type 2 diabetes develop more gradually. Tests for Diabetes The following tests are used to diagnose diabetes or prediabetes. - An A1C test measures your average blood glucose levels over the past 3 months. It can be used to diagnose type 2 diabetes and prediabetes. It does not require fasting and blood can be drawn for the test any time of the day. An A1C test measures your average blood glucose levels over the past 3 months. It can be used to diagnose type 2 diabetes and prediabetes. It does not require fasting and blood can be drawn for the test any time of the day. - A fasting plasma glucose, or FPG test, measures your blood glucose after you have gone at least 8 hours without eating. Doctors use this test to detect diabetes or prediabetes. A fasting plasma glucose, or FPG test, measures your blood glucose after you have gone at least 8 hours without eating. Doctors use this test to detect diabetes or prediabetes. - In a random plasma glucose test, your doctor checks your blood glucose without regard to when you ate your last meal. This test, along with an assessment of symptoms, is used to diagnose diabetes but not prediabetes. In a random plasma glucose test, your doctor checks your blood glucose without regard to when you ate your last meal. This test, along with an assessment of symptoms, is used to diagnose diabetes but not prediabetes. - An oral glucose tolerance test, or OGTT, measures your blood glucose after you have gone at least 8 hours without eating and 2 hours after you drink a sweet beverage. Doctors also use the oral glucose tolerance test to diagnose gestational diabetes in pregnant women. An oral glucose tolerance test, or OGTT, measures your blood glucose after you have gone at least 8 hours without eating and 2 hours after you drink a sweet beverage. Doctors also use the oral glucose tolerance test to diagnose gestational diabetes in pregnant women. If any of these tests show that you might have diabetes, your doctor will need to repeat the test with a second measurement unless there are clear symptoms of diabetes. Get more details about tests for diabetes. Who Should Get Tested? Because type 2 diabetes is more common in older people, anyone who is 45 or older should consider getting tested. If you are 45 or older and overweight, getting tested is strongly recommended. If you are younger than 45, overweight, and have one or more risk factors, you also should talk with your doctor about being tested. See risk factors for type 2 diabetes. Why Early Detection is Important Diabetes is a serious disease that can lead to a number of health problems such as heart disease, stroke, vision problems, kidney disease and even death. Sometimes people have symptoms but do not suspect diabetes. They delay scheduling a checkup because they do not feel sick. Many people do not find out they have the disease until they have diabetes complications, such as a heart attack or stroke. Finding out early if you have diabetes is important because treatment can prevent or delay the complications of the disease.",NIHSeniorHealth,Diabetes +What are the treatments for Diabetes ?,"Diabetes cannot be cured, but it can be managed. Managing blood glucose (blood sugar) as well as blood pressure and cholesterol is the best defense against the serious complications of diabetes. Know What To Do Every Day To manage your diabetes, here are things to do every day. - Take your medicines. - Keep track of your blood glucose (blood sugar). - Check your blood pressure if your doctor advises. - Check your feet. - Brush your teeth and floss. - Stop smoking. - Eat well. - Be active. Take your medicines. Keep track of your blood glucose (blood sugar). Check your blood pressure if your doctor advises. Check your feet. Brush your teeth and floss. Stop smoking. Eat well. Be active. (Watch the video to learn more about what one woman does to manage her diabetes every day. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Take Your Diabetes Medicines People with type 1 diabetes control their blood sugar with insulin -- delivered either by injection or with a pump. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some may need both, as well as lifestyle modification. Ask your doctor if you need to take aspirin every day to prevent a heart attack or stroke. Keep Track of Your Blood Glucose One of the best ways to find out how well you are taking care of your diabetes is to check your blood to see how much glucose is in it. If your blood has too much or too little glucose, you may need a change in your meal plan, exercise plan, or medication. Ask your doctor how often you should check your blood glucose. Some people check their blood glucose once a day. Others do it three a day or even more. You may be told to check before eating, before bed, and sometimes in the middle of the night. Your doctor or diabetes educator will show you how to check your blood using a blood glucose meter. Your health insurance or Medicare may pay for some of the supplies and equipment you need to check your glucose levels. See what diabetes supplies and services Medicare covers. Check Your Blood Pressure Check your blood pressure if your doctor advises and keep a record of it. You can check your pressure at home with a home blood pressure measurement device or monitor. Blood pressure monitors can be bought at discount chain stores and drug stores. When you are taking your blood pressure at home, sit with your back supported and your feet flat on the floor. Rest your arm on a table at the level of your heart. Check with your health care provider to make sure you are using the monitor correctly. Check Your Feet Foot care is very important for people with diabetes. High blood glucose levels and a reduced blood supply to the limbs cause nerve damage that reduces feeling in the feet. Someone with nerve damage may not feel a pebble inside his or her sock that is causing a sore. Or a blister caused by poorly fitting shoes may go unnoticed. Foot injuries such as these can cause ulcers, which may, if not cared for, ultimately lead to the need for amputation. If you have diabetes, - check your feet every day and watch for any cuts, sores, red spots, swelling, and infected toenails. - report sores, blisters, breaks in the skin, infections, or buildup of calluses to a podiatrist or a family doctor. - never walk barefoot. - have your feet checked at every doctor visit. - take your shoes and socks off when you go into the examining room. This will remind the doctor to check your feet. check your feet every day and watch for any cuts, sores, red spots, swelling, and infected toenails. report sores, blisters, breaks in the skin, infections, or buildup of calluses to a podiatrist or a family doctor. never walk barefoot. have your feet checked at every doctor visit. take your shoes and socks off when you go into the examining room. This will remind the doctor to check your feet. Learn more about taking care of your feet. Brush Your Teeth and Floss People with diabetes can have tooth and gum problems more often if their blood glucose stays high. High blood glucose also can make tooth and gum problems worse. You can even lose your teeth. Here are ways to protect your teeth and gums. - Keep your blood glucose as close to normal as possible. - Use dental floss at least once a day. Flossing helps prevent the buildup of plaque on your teeth. Plaque can harden and grow under your gums and cause problems. Using a sawing motion, gently bring the floss between the teeth, scraping from bottom to top several times. - Brush your teeth after each meal and snack. Use a soft toothbrush. Turn the bristles against the gum line and brush gently. Use small, circular motions. Brush the front, back, and top of each tooth. - If you wear false teeth, keep them clean. - Call your dentist right away if you have problems with your teeth and gums. Keep your blood glucose as close to normal as possible. Use dental floss at least once a day. Flossing helps prevent the buildup of plaque on your teeth. Plaque can harden and grow under your gums and cause problems. Using a sawing motion, gently bring the floss between the teeth, scraping from bottom to top several times. Brush your teeth after each meal and snack. Use a soft toothbrush. Turn the bristles against the gum line and brush gently. Use small, circular motions. Brush the front, back, and top of each tooth. If you wear false teeth, keep them clean. Call your dentist right away if you have problems with your teeth and gums. Learn more about how diabetes can affect your mouth and teeth. Stop Smoking If you smoke, stop. Smoking raises your risk for many diabetes problems, including heart attack and stroke. Ask for help to quit. Call 1-800 QUITNOW (1-800-784-8669). For more information on smoking and older adults, see Quitting Smoking for Older Adults. Eat Well People with diabetes don't need to buy or prepare special foods. The foods that are best for someone with diabetes are excellent choices for everyone: foods that are low in fat, salt, and sugar, and high in fiber, such as beans, fruits, vegetables, and whole grains. These foods help you reach and stay at a weight that's good for your body, keep your blood pressure, glucose and cholesterol in a desirable range, and prevent or delay heart and blood vessel disease. For more on healthy eating, see Small Steps for Eating Healthy Foods. Be Active Try to exercise almost every day for a total of about 30 to 60 minutes. If you haven't exercised lately, begin slowly. Start with 5 to 10 minutes, and then add more time. Or exercise for 10 minutes, three times a day. (Tip: you dont need to get your exercise in all at one time.) For more information on exercise and older adults, see Exercise: How to Get Started or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging. Be sure to check with your doctor before starting an exercise program. Other Areas To Manage Here are other areas to manage if you have diabetes. - Take care of your eyes. - Protect your kidneys. - Protect your skin. - Learn how to cope with stress. Take care of your eyes. Protect your kidneys. Protect your skin. Learn how to cope with stress. Take Care of Your Eyes High blood glucose and high blood pressure from diabetes can hurt your eyes. It can even cause blindness, or other painful eye problems. Here are ways to prevent diabetes eye problems. - Keep your blood glucose and blood pressure as close to normal as you can. - Have an eye care professional examine your eyes once a year. Have this exam even if your vision is okay. Keep your blood glucose and blood pressure as close to normal as you can. Have an eye care professional examine your eyes once a year. Have this exam even if your vision is okay. Learn more about eye disease and diabetes. Protect Your Kidneys High blood glucose and high blood pressure may damage the kidneys. Damaged kidneys do not do a good job of filtering out wastes and extra fluid. Here are ways to prevent diabetes kidney problems. - Keep your blood glucose and blood pressure as close to your target goal as you can. - Get tested at least once a year for kidney disease. Ask your doctor if you should be tested. - Follow the healthy eating plan you work out with your doctor or dietitian. If you already have kidney problems, your dietitian may suggest you cut back on protein. Keep your blood glucose and blood pressure as close to your target goal as you can. Get tested at least once a year for kidney disease. Ask your doctor if you should be tested. Follow the healthy eating plan you work out with your doctor or dietitian. If you already have kidney problems, your dietitian may suggest you cut back on protein. Learn more about keeping your kidneys healthy. Protect Your Skin Skin care is very important, too. Because people with diabetes may have more injuries and infections, they should protect their skin by keeping it clean and taking care of minor cuts and bruises. Learn How To Cope With Stress Stress can raise your blood glucose (blood sugar). While it is hard to remove stress from your life, you can learn to handle it. Try deep breathing, gardening, taking a walk, meditating, working on your hobby, or listening to your favorite music.",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries the glucose to all of the cells in your body. Insulin is a chemical (a hormone) made by the pancreas. The pancreas releases insulin into the blood. Insulin helps the glucose from food get into your cells. If your body does not make enough insulin or if the insulin doesn't work the way it should, glucose can't get into your cells. It stays in your blood instead. Your blood glucose level then gets too high, causing pre-diabetes or diabetes.",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Learn more about type 1 diabetes here. Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here.",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here.",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"Studies have shown that most people with prediabetes develop type 2 diabetes within a few years, unless they change their lifestyle. Most people with prediabetes dont have any symptoms. Your doctor can test your blood to find out if your blood glucose levels are higher than normal. Losing weightat least 5 to 10 percent of your starting weightcan prevent or delay diabetes or even reverse prediabetes. Thats 10 to 20 pounds for someone who weighs 200 pounds. You can lose weight by cutting the amount of calories and fat you consume and by being physically active at least 30 to 60 minutes every day. Physical activity also helps your body use the hormone insulin properly. Your body needs insulin to use glucose for energy. Medicine can help control the amount of glucose in your blood. Ask your doctor if medicine to control glucose is right for you. Learn more about prediabetes here.",NIHSeniorHealth,Diabetes +What are the symptoms of Diabetes ?,"Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all.",NIHSeniorHealth,Diabetes +What causes Diabetes ?,"Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. However, many believe that both genetic factors and environmental factors are involved. Studies now are underway to identify these factors and prevent type 1 diabetes in people at risk. Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Get more details about who should be tested for diabetes.",NIHSeniorHealth,Diabetes +What are the treatments for Diabetes ?,"Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, and heart, gums and teeth. If you have diabetes, you are more likely than someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or stroke at an earlier age than others. The best way to protect yourself from the serious complications of diabetes is to manage your blood glucose, blood pressure, and cholesterol and avoid smoking. It is not always easy, but people who make an ongoing effort to manage their diabetes can greatly improve their overall health.",NIHSeniorHealth,Diabetes +Who is at risk for Diabetes? ?,"Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds - having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. - having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher - being inactive or exercising fewer than three times a week. - having polycystic ovary syndrome, also called PCOS (women only) - on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) - history of cardiovascular disease (disease affecting the heart and blood vessels). being over 45 years of age being overweight or obese having a first-degree relative -- a parent, brother, or sister -- with diabetes being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher being inactive or exercising fewer than three times a week. having polycystic ovary syndrome, also called PCOS (women only) on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) history of cardiovascular disease (disease affecting the heart and blood vessels).",NIHSeniorHealth,Diabetes +How to prevent Diabetes ?,"The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that making modest lifestyle changes can prevent or delay type 2 diabetes in people at risk for the disease. In the Diabetes Prevention Program (DPP), a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases, researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Diabetes +What are the treatments for Diabetes ?,"People with type 1 diabetes control their blood sugar with insulin -- either with shots or an insulin pen. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some people may need to take both, along with lifestyle modification. (Watch the video to learn how one woman manages her type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) To manage your diabetes, here are things to do every day. - Take your medicines for diabetes and for any other health problems, even when you feel good. Take your medicines for diabetes and for any other health problems, even when you feel good. - Keep track of your blood glucose (blood sugar). You may want to check it one or more times a day. Be sure to talk about it with your health care team. Keep track of your blood glucose (blood sugar). You may want to check it one or more times a day. Be sure to talk about it with your health care team. - Check your blood pressure if your doctor advises and keep a record of it. Check your blood pressure if your doctor advises and keep a record of it. - Check your feet every day for cuts, blisters, red spots and swelling. Call your health care team right away about any sores that do not go away. Check your feet every day for cuts, blisters, red spots and swelling. Call your health care team right away about any sores that do not go away. - Brush your teeth and floss every day to keep your mouth, teeth and gums healthy. Brush your teeth and floss every day to keep your mouth, teeth and gums healthy. - Stop smoking. Ask for help to quit. Call 1-800 QUIT NOW ( 1-800-784-8669) Stop smoking. Ask for help to quit. Call 1-800 QUIT NOW ( 1-800-784-8669) - Eat well. Ask your doctor to give you the name of someone trained to help you create a healthy eating plan, such as a dietitian. See small steps for eating healthy foods. Eat well. Ask your doctor to give you the name of someone trained to help you create a healthy eating plan, such as a dietitian. See small steps for eating healthy foods. - Be active. Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. To learn more, see Exercise: How To Get Started, or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging. Be active. Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. To learn more, see Exercise: How To Get Started, or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"Heart disease and stroke are the leading causes of death for people with diabetes. Controlling the ABCs of diabetes -- your blood glucose, your blood pressure, and your cholesterol, as well as stopping smoking -- can help prevent these and other complications from diabetes. - A is for the A1C test - B is for Blood pressure - C is for Cholesterol. A is for the A1C test B is for Blood pressure C is for Cholesterol. - The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control. The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control. - B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal. B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal. - C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal. C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal. Ask your health care team - what your A1C, blood pressure, and cholesterol numbers are. - what your ABCs should be. - what you can do to reach your target. what your A1C, blood pressure, and cholesterol numbers are. what your ABCs should be. what you can do to reach your target.",NIHSeniorHealth,Diabetes +What are the treatments for Diabetes ?,"See your health care team at least twice a year to find and treat any problems early. Ask what steps you can take to reach your goals. If you have diabetes, take these steps. At each visit, be sure you have a - blood pressure check - foot check - weight check - review of your self-care plan. blood pressure check foot check weight check review of your self-care plan. Two times each year, get - an A1C test. It may be checked more often if it is over 7. an A1C test. It may be checked more often if it is over 7. Once each year, be sure you have a - cholesterol test - triglyceride (try-GLISS-er-ide) test - a type of blood fat - complete foot exam - dental exam to check teeth and gums. Tell your dentist you have diabetes. - dilated eye exam to check for eye problems - flu shot - urine and a blood test to check for kidney problems. cholesterol test triglyceride (try-GLISS-er-ide) test - a type of blood fat complete foot exam dental exam to check teeth and gums. Tell your dentist you have diabetes. dilated eye exam to check for eye problems flu shot urine and a blood test to check for kidney problems. At least once, get a - pneumonia (nu-MOH-nya) shot. pneumonia (nu-MOH-nya) shot. If you have Medicare, ask your health care team if Medicare will cover some of the costs for - learning about healthy eating and diabetes self-care - special shoes, if you need them - medical supplies - diabetes medicines. learning about healthy eating and diabetes self-care special shoes, if you need them medical supplies diabetes medicines. (Watch the video for important things to remember when visiting your health care team. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Diabetes +What is (are) Diabetes ?,"People with diabetes should - do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - do activities to strengthen muscles and bone, such as sit-ups or lifting weights. Aim for two times a week. - stretch to increase flexibility, lower stress, and help prevent muscle soreness after physical activity. do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. do activities to strengthen muscles and bone, such as sit-ups or lifting weights. Aim for two times a week. stretch to increase flexibility, lower stress, and help prevent muscle soreness after physical activity. Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. Start with 5 to 10 minutes, and then add more time. Or exercise for 10 minutes, three times a day. (Tip: you dont need to get your exercise in all at one time.) For more information on exercise and older adults, see Exercises To Try or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. Always talk with a doctor before starting a new physical activity program.",NIHSeniorHealth,Diabetes +How to prevent Diabetes ?,"Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. It can also cause high blood pressure. If you are overweight or obese, choose sensible ways to reach and maintain a reasonable body weight. - Make healthy food choices. What you eat has a big impact on your weight and overall health. By developing healthy eating habits you can help control your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. Make healthy food choices. What you eat has a big impact on your weight and overall health. By developing healthy eating habits you can help control your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. - Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways: it helps you lose weight, controls your cholesterol and blood pressure, and improves your body's use of insulin. Many people make walking part of their daily routine because it's easy, fun and convenient. But you can choose any activity that gets you moving. It's fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program. Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways: it helps you lose weight, controls your cholesterol and blood pressure, and improves your body's use of insulin. Many people make walking part of their daily routine because it's easy, fun and convenient. But you can choose any activity that gets you moving. It's fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program.",NIHSeniorHealth,Diabetes +What is (are) Medicare and Continuing Care ?,"Medicare is a federal health insurance program for people - age 65 and older - under age 65 with certain disabilities who have been receiving Social Security disability benefits for a certain amount of time (24 months in most cases) - of any age who have End-Stage Renal Disease (ESRD), which is permanent kidney failure requiring dialysis or a transplant. age 65 and older under age 65 with certain disabilities who have been receiving Social Security disability benefits for a certain amount of time (24 months in most cases) of any age who have End-Stage Renal Disease (ESRD), which is permanent kidney failure requiring dialysis or a transplant. Medicare helps with the cost of health care, but it does not cover all medical expenses.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Medicare Part A is hospital insurance that helps cover inpatient care in hospitals. Part A also helps cover skilled nursing facility care for a limited period of time, hospice care, and home health care, if you meet certain conditions. Most people don't have to pay a monthly premium for Medicare Part A when they turn age 65 because they or a spouse paid Medicare taxes while they were working. If a person is hospitalized, Medicare helps pay for the following services. - Care - general nursing - Room - semiprivate room - Hospital services - meals, most services and supplies Care - general nursing Room - semiprivate room Hospital services - meals, most services and supplies If a person is hospitalized, Medicare does NOT pay for the following services. - Care - private-duty nursing - Room - private room (unless medically necessary) - Hospital services - television and telephone Care - private-duty nursing Room - private room (unless medically necessary) Hospital services - television and telephone For important information about Medicare Part A, visit http://www.medicare.gov to view or print copies of ""Your Medicare Benefits"" or ""Medicare & You."" (Under ""Search Tools,"" select ""Find a Medicare Publication."")",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Medicare Part B is medical insurance. It helps cover medical services such as doctor's services, outpatient care and other medical services that Part A doesn't cover. Part B also covers some preventive services, such as flu shots and diabetes screening, to help you maintain your health and to keep certain illnesses from getting worse. Enrollment in Part B is optional, and most people who choose it must pay a monthly fee, or premium. There may be a late enrollment penalty for Part B if the person doesn't join when he or she is first eligible. For important information about Part B, visit http://www.medicare.gov to view or print copies of ""Your Medicare Benefits"" or ""Medicare & You."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also contact your State Health Insurance Assistance Program (SHIP) which gives free health insurance counseling and guidance to people with Medicare -- or to family and friends who have authorization to help someone with Medicare questions. To get the most up-to-date telephone numbers, call 1-800-Medicare (1-800-633-4227) or visit http://www.medicare.gov. (TTY users should call 1-877-486-2048.) Under ""Search Tools,"" select ""Find Helpful Phone Numbers and Websites."" To sign up for Medicare Part B, call Social Security at 1-800-772-1213. TTY users should call 1-800-325-0778. If you are getting benefits from the Railroad Retirement Board, call your local RRB office or 1-800-808-0772.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Medicare Advantage Plans, sometimes known as Medicare Part C, are plans people can join to get their Medicare benefits. Medicare Advantage Plans are available in many areas of the country, and a person who joins one of these plans will get all Medicare-covered benefits. These plans cover hospital costs (Part A), medical costs (Part B), and sometimes prescription drug costs (Part D). Medicare Advantage Plans may also offer extra coverage, such as vision, hearing, dental, and/or health and wellness programs. Medicare Advantage Plans are managed by private insurance companies approved by Medicare. To join a Medicare Advantage Plan, a person must have Medicare Part A and Part B and must pay the monthly Medicare Part B premium to Medicare. In addition, it might be necessary to pay a monthly premium to the Medicare Advantage Plan for the extra benefits that they offer. In most of these plans, there are generally extra benefits and lower co-payments than in Original Medicare. (See Question #6 for information about Original Medicare.) However, a person may have to see doctors that belong to the plan or go to certain hospitals to get services. A person can switch plans each year in the fall if desired. To find out what Medicare Advantage Plans are available in your area, visit http://www.medicare.gov and choose the link Compare Health Plans and Medigap Policies in Your Area to use the Medicare Options Compare tool, or call 1-800-MEDICARE (1-800-633-4227).",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to choose and sign up for a Medicare Prescription Drug plan (PDP). A person who joins one of the Medicare Advantage Plans will automatically receive prescription drug coverage through that plan if it's offered, usually for an extra cost. For more information about Medicare Part D, visit http://www.medicare.gov to get free copies of ""Your Guide to Medicare Prescription Drug Coverage"" and ""Compare Medicare Prescription Drug Plans."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You may also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Original Medicare is managed by the Federal government and lets people with Medicare go to any doctor, hospital or other health care provider who accepts Medicare. It is a fee-for-service plan, meaning that the person with Medicare usually pays a fee for each service. Medicare pays its share of an approved amount up to certain limits, and the person with Medicare pays the rest. People in Original Medicare must choose and join a Medicare Prescription Drug Plan if they want to get Medicare prescription drug coverage. For more information about Original Medicare, visit http://www.medicare.gov for a free copy of ""Your Medicare Benefits."" (Under ""Search Tools,"" select ""Find a Medicare Publication."")",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"People who choose Original Medicare may wish to consider Medigap, a type of Medicare supplement insurance. Medigap policies are sold by private insurance companies to fill gaps in Original Medicare Plan coverage, such as out-of-pocket costs for Medicare co-insurance and deductibles, or for services not covered by Medicare. A Medigap policy only works with Original Medicare. A person who joins a Medicare Advantage Plan generally doesn't need (and can't use) a Medigap policy. For more information about Medigap policies, visit http://www.medicare.gov to view a copy of ""Choosing a Medigap Policy: A Guide to Health Insurance for People with Medicare."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under ""Search Tools,"" select ""Find Helpful Phone Numbers and Websites."") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Home health care is short-term skilled care at home after hospitalization or for the treatment of an illness or injury. Home health agencies provide home care services, including skilled nursing care, physical therapy, occupational therapy, speech therapy, medical social work, and care by home health aides. Home health services may also include durable medical equipment, such as wheelchairs, hospital beds, oxygen, and walkers, and medical supplies for use at home.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Here are questions to ask when considering a home health agency. - Is the agency Medicare-approved? - How long has the agency served the community? - Does this agency provide the services my relative or friend needs? - How are emergencies handled? - Is the staff on duty around the clock? - How much do services and supplies cost? - Will agency staff be in regular contact with the doctor? Is the agency Medicare-approved? How long has the agency served the community? Does this agency provide the services my relative or friend needs? How are emergencies handled? Is the staff on duty around the clock? How much do services and supplies cost? Will agency staff be in regular contact with the doctor? You can use Medicare's ""Home Health Compare"" tool to compare home health agencies in your area. Visit http://www.medicare.gov. Under ""Search Tools,"" select ""Compare Home Health Agencies in Your Area.""",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Here are some questions to ask when considering choosing a nursing home. You may want to make surprise visits at different times of the day to verify conditions. - Is the nursing home Medicare- or Medicaid-certified? - Does the nursing home have the level of care needed (such as skilled or custodial care) and is a bed available? - Does the nursing home have special services if needed in a separate unit (such as a ventilator or rehabilitation) and is a bed available? - Are residents clean, well groomed, and appropriately dressed for the season or time of day? - Is the nursing home free from strong, unpleasant odors? - Does the nursing home appear to be clean and well kept? - Does the nursing home conduct staff background checks? - Does the nursing home staff interact warmly and respectfully with home residents? - Does the nursing home meet cultural, religious, and language needs? - Are the nursing home and the current administrator licensed? Is the nursing home Medicare- or Medicaid-certified? Does the nursing home have the level of care needed (such as skilled or custodial care) and is a bed available? Does the nursing home have special services if needed in a separate unit (such as a ventilator or rehabilitation) and is a bed available? Are residents clean, well groomed, and appropriately dressed for the season or time of day? Is the nursing home free from strong, unpleasant odors? Does the nursing home appear to be clean and well kept? Does the nursing home conduct staff background checks? Does the nursing home staff interact warmly and respectfully with home residents? Does the nursing home meet cultural, religious, and language needs? Are the nursing home and the current administrator licensed?",NIHSeniorHealth,Medicare and Continuing Care +What to do for Medicare and Continuing Care ?,"Nursing home care can be very expensive. Medicare generally doesn't cover nursing home care. There are many ways people can pay for nursing home care. For example, they can use their own money, they may be able to get help from their state, or they may use long-term care insurance. Nursing home care isn't covered by many types of health insurance. Most people who enter nursing homes begin by paying for their care out of their own pocket. As they use up their resources over a period of time, they may eventually become eligible for Medicaid. Medicaid is a state and Federal program that will pay most nursing home costs for people with limited income and resources. Eligibility varies by state. Medicaid pays for care for about 7 out of every 10 nursing home residents. Medicaid will pay for nursing home care only when provided in a Medicaid-certified facility. For information about Medicaid eligibility, call your state Medical Assistance (Medicaid) Office. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under ""Search Tools,"" select ""Find Helpful Phone Numbers and Websites."") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Medicare does cover skilled nursing care after a 3-day qualifying hospital stay. Skilled care is health care given when the person needs skilled nursing or rehabilitation staff to manage, observe, and evaluate his or her care. Care that can be given by non-professional staff isn't considered skilled care. Medicare does not cover custodial care or adult day care. For more information on Medicare coverage of skilled nursing facility care, visit http://www.medicare.gov to look at or print a copy of the booklet ""Medicare Coverage of Skilled Nursing Facility Care."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also call 1-800-Medicare (1-800-633-4227) to find out if a free copy can be mailed to you. TTY users should call 1-877-486-2048.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"Hospice care is a special way of caring for people who are terminally ill (dying) and helping their families cope. Hospice care includes treatment to relieve symptoms and keep the individual comfortable. The goal is to provide end-of-life care, not to cure the illness. Medical care, nursing care, social services, drugs for the terminal and related conditions, durable medical equipment, and other types of items and services can be a part of hospice care.",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Medicare and Continuing Care ?,"The general number for Medicare is 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048. You can also visit http://www.medicare.gov. The ""Medicare & You"" handbook is mailed out to all Medicare enrollees in the fall. It includes detailed information about all aspects of Medicare. On the following pages you will find phone numbers, web addresses, and names of publications that provide detailed information about various aspects of Medicare. If a person needs to sign up for Medicare, call Social Security at 1-800-772-1213 or go to http://www.ssa.gov to find out more. Your State Health Insurance Assistance Program, or SHIP, gives free health insurance counseling and guidance to people with Medicare -- or to family and friends who have authorization to help someone with Medicare questions. To get the most up-to-date SHIP telephone numbers, call 1-800-Medicare (1-800-633-4227) or visit http://www.medicare.gov. (TTY users should call 1-877-486-2048.) Under ""Search Tools,"" select ""Find Helpful Phone Numbers and Websites."" For information about enrolling in Medicare Part A or Part B, visit http://www.medicare.gov and view a copy of ""Medicare & You."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") Or, you can contact your State Health Insurance Assistance Program. For information about Medicare prescription drug coverage, visit http://www.medicare.gov to get a free copy of ""Your Guide to Medicare Prescription Drug Coverage."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under ""Search Tools,"" select ""Find Helpful Phone Numbers and Websites."") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048. To find out about Medigap policies, visit http://www.medicare.gov to view a copy of ""Choosing a Medigap Policy: A Guide to Health Insurance for People with Medicare."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048. To find out about PACE (Programs of All-Inclusive Care for the Elderly), which provides coverage for low-income, frail, older adults who get health care in the community, call your State Medical Assistance (Medicaid) office or visit PACE to find out if a person is eligible and if there is a PACE site nearby. Several states have State Pharmacy Assistance Programs (SPAPs) that help people who qualify pay for prescription drugs. To find out about the SPAPs in your state, call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048. For more information about the Medicare Summary Notice, including a sample MSN and information on how to read it, visit http://www.medicare.gov and select ""Medicare Billing."" Or call 1-800-Medicare (1-800-633-4227) and say ""Billing."" TTY users should call 1-877-486-2048. For information about appeals, visit http://www.medicare.gov to get a free copy of ""Your Medicare Rights and Protections."" (Under ""Search Tools,"" select ""Find a Medicare Publication."") You can also call 1-800-Medicare (1-800-633-4227) to find out if a free copy can be mailed to you. TTY users should call 1-877-486-2048. To find out if a patient is eligible for Medicare's home health care services, call the Regional Home Health Intermediary (RHHI). An RHHI is a private company that contracts with Medicare to pay bills and check on the quality of home health care. To contact an RHHI, or get local telephone numbers for your State Hospice Organization, call 1-800-Medicare (1-800-633-4227) or visit http://www.medicare.gov. TTY users should 1-877-486-2048. To compare home health agencies in your area, you can use Medicare's ""Home Health Compare"" tool. Go to http://www.medicare.gov and under ""Search Tools,"" select ""Compare Home Health Agencies in Your Area."" For more information on Medicare coverage of skilled nursing facility care, visit http://www.medicare.gov to look at or print a copy of the booklet ""Medicare Coverage of Skilled Nursing Facility Care."" (Under ""Search Tools,"" select ""Find a Medicare Publication."")",NIHSeniorHealth,Medicare and Continuing Care +What is (are) Knee Replacement ?,"There are many different types and designs of artificial knees. Most consist of three components: - the femoral component, which is the part that attaches to the thigh bone - the tibial component, the part that attaches to the shin bone - the patellar component, the knee cap. the femoral component, which is the part that attaches to the thigh bone the tibial component, the part that attaches to the shin bone the patellar component, the knee cap. Total and Partial Knee Replacement Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. You may be able to have a partial knee replacement if only one section of your knee is damaged. However, when one part is replaced, there is a chance that another part will develop arthritis, requiring further surgery. Cemented and Uncemented Joint Components Joint components may also be attached to your own bone in different ways. Most are cemented with a special joint glue into your existing bone; others rely on a process called biologic fixation to hold them in place. This means that the parts are made with a porous surface, and over time your own bone grows into the joint surface to secure them. In some cases, surgeons use a combination of cemented and uncemented parts. This is referred to as a hybrid implant. Minimally Invasive Surgery While some knee replacement surgery requires an 8- to 12-inch incision in the front of the knee, surgeons at many medical centers are now performing what is called minimally invasive surgery using incisions of 3 to 5 inches or even smaller. Because the incision is smaller, there may be less pain and a shorter recovery time. If you think you might be interested in minimally invasive surgery, speak with your surgeon.",NIHSeniorHealth,Knee Replacement +What are the complications of Knee Replacement ?,"While new technology and advances in surgical techniques have greatly reduced the risks involved with knee replacements, there are still some risks you should be aware of. Two of the most common possible problems are blood clots and infection. Preventing Blood Clots Blood clots can occur in the veins of your legs after knee replacement surgery. To reduce the risk of clots, your doctor may have you elevate your leg periodically and prescribe special exercises, support hose, or blood thinners. Preventing Infections Infection can occur when bacteria enter the bloodstream from skin or urinary tract infections. To reduce the risk of infection, your doctors may prescribe antibiotics for you to take prior to your surgery and for a short time afterward. Other Complications Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare. Warning Signs To Watch For To minimize the risk of complications, it is important to recognize signs of potential problems early and contact your doctor. For example, tenderness, redness, and swelling of your calf or swelling of your thigh, ankle, calf, or foot could be warning signs of a possible blood clot. Warning signs of infection include fever or chills, tenderness and swelling of the wound, and drainage from the wound. You should call your doctor if you experience any of these symptoms. It is important to get instructions from your doctor before leaving the hospital and follow them carefully once you get home. Doing so will give you the greatest chance of a successful surgery.",NIHSeniorHealth,Knee Replacement +What is the outlook for Knee Replacement ?,"Recovery from knee replacement extends long after you leave the hospital. Preparing for recovery requires learning what to expect in the days and weeks following surgery. It requires understanding what you will and wont be able to do and when. It also means arranging for social support and arranging your house to make everyday tasks easier and to help speed your recovery. Find Someone To Stay with You Because you will not be able to drive for several weeks after surgery, you will need someone to take you home from the hospital and be on hand to run errands or take you to appointments until you can drive yourself. If you live with someone, you should have them plan to stay home with you or at least stay close by, in case you need help. If you dont live with a family member or have one close by, a friend or neighbor may be able to help. Other options include staying in an extended-care facility during your recovery or hiring someone to come to your home and help you. Your hospital social worker should be able to help you make arrangements. Prepare Your Home for Your Recovery To prepare your home for your recovery, stock up on needed items before you leave for the hospital. Make sure you have plenty of non-perishable foods on hand. Prepare meals and freeze them to put in the microwave when you need an easy meal. In the first weeks after surgery, you should avoid going up and down stairs. If your bedroom is on the second floor of your home, consider moving to a downstairs bedroom temporarily or sleeping on the sofa. Set Up a Recovery Station Set up a recovery station at home. Place a sturdy chair where you plan to spend most of your time sitting during the first weeks after surgery. The chair should be 18 to 20 inches high and should have two arms and a firm seat and back. Place a foot stool in front of the chair so you can elevate your legs, and place items you will need such as the television remote control, telephone, medicine, and tissues where you can reach them easily from the chair. Place items you use every day at arms level to avoid reaching up or bending down. Ask your doctor or physical therapist about devices and tips that may make daily activities easier once you get home. Devices you may find helpful include long-handled reachers to retrieve items placed on high shelves or dropped on the floor, aprons with pockets that allow you to carry items while leaving your hands free for crutches, shower benches that let you sit while you shower, and dressing sticks to help you get dressed without bending your new knee excessively. Safeguard Against Falls Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. Bathrooms are likely places to fall, so particular attention is needed there. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady. Textured shapes on the shower floor can minimize slipping. Gradually Increase Activity It is also important to exercise to get stronger while avoiding any activities that can damage or dislocate your new joint. Activity should include a graduated walking program (where you slowly increase the time, distance, and pace that you walk) and specific exercises several times a day to prevent scarring, restore movement, and stabilize and strengthen your new knee. Remember Follow-ups Your surgeon will let you know about follow-up visits. Even after you have healed from surgery, you will need to see your surgeon periodically for examinations and x-rays to detect any potential problems with your knee. By preparing for surgery and recovery and following your doctor's advice, you can get the greatest benefits from your new knee with the least risk of complications for many years to come.",NIHSeniorHealth,Knee Replacement +What is (are) Knee Replacement ?,"The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.",NIHSeniorHealth,Knee Replacement +What are the treatments for Knee Replacement ?,"Treatments your doctor will likely recommend before knee replacement include - exercises to strengthen the muscles around the knee and improve flexibility - weight loss, if needed, to reduce the load the knee must bear - walking aids such as canes to reduce stress on the joint - shoe inserts to improve the knees alignment - medicines to relieve pain. exercises to strengthen the muscles around the knee and improve flexibility weight loss, if needed, to reduce the load the knee must bear walking aids such as canes to reduce stress on the joint shoe inserts to improve the knees alignment medicines to relieve pain.",NIHSeniorHealth,Knee Replacement +What is (are) Knee Replacement ?,"Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. You may be able to have a partial knee replacement if only one section of your knee is damaged. However, when one part is replaced, there is a chance that another part will develop arthritis, requiring further surgery.",NIHSeniorHealth,Knee Replacement +What is (are) Knee Replacement ?,"A physical therapist will teach you exercises to help your recovery. You can expect some pain, discomfort, and stiffness as you begin therapy, but to get the best results from your new knee, it is important to do all of the exercises your physical therapist recommends.",NIHSeniorHealth,Knee Replacement +What are the complications of Knee Replacement ?,"Two of the most common possible problems are blood clots and infection. Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare.",NIHSeniorHealth,Knee Replacement +What are the complications of Knee Replacement ?,"To reduce the risk of clots, your doctor may have you elevate your leg periodically and prescribe special exercises, support hose, or blood thinners. To reduce the risk of infection, your doctor may prescribe antibiotics for you to take prior to your surgery and for a short time afterward.",NIHSeniorHealth,Knee Replacement +Who is at risk for Knee Replacement? ?,"Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady.",NIHSeniorHealth,Knee Replacement +What is (are) Knee Replacement ?,"You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse National Institutes of Health 1 AMS Circle Bethesda, MD 20892-3675 Phone: 301-495-4484 Toll Free: 877-22-NIAMS (226-4267) TTY: 301-565-2966 Fax: 301-718-6366 Email: NIAMSinfo@mail.nih.gov Website: http://www.niams.nih.gov American Physical Therapy Association Website: http://www.apta.org Arthritis Foundation Website: http://www.arthritis.org The Knee Society Website: http://www.kneesociety.org MedlinePlus Website: http://www.nlm.nih.gov/medlineplus/kneereplacement.html",NIHSeniorHealth,Knee Replacement +What is (are) Balance Problems ?,"Have you ever felt dizzy, lightheaded, or as if the room were spinning around you? These can be very troublesome sensations. If the feeling happens often, it could be a sign of a balance problem. Balance problems are among the most common reasons that older adults seek help from a doctor. In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. Why Good Balance is Important Having good balance means being able to control and maintain your body's position, whether you are moving or remaining still. An intact sense of balance helps you - walk without staggering - get up from a chair without falling - climb stairs without tripping - bend over without falling. walk without staggering get up from a chair without falling climb stairs without tripping bend over without falling. The part of the inner ear responsible for balance is the vestibular system, often referred to as the labyrinth. To maintain your body's position, the labyrinth interacts with other systems in the body, such as the eyes, bones and joints. Good balance is important to help you get around, stay independent, and carry out daily activities. Learn how your body maintains its balance. When People Have Problems with Balance As they get older, many people experience problems with their sense of balance. They feel dizzy or unsteady, or as if they or their surroundings were in motion. Disturbances of the inner ear are a common cause. Vertigo, the feeling that you or the things around you are spinning, is also a common symptom. Balance disorders are one reason older people fall. Falls and fall-related injuries, such as hip fracture, can have a serious impact on an older person's life. If you fall, it could limit your activities or make it impossible to live independently. Many people often become more isolated after a fall. According to the Centers for Disease Control and Prevention, roughly more than one-third of adults ages 65 years and older fall each year. Among older adults, falls are the leading cause of injury-related deaths. Learn other ways a fall may affect an older adult's life. BPPV (Benign Paroxysmal Positional Vertigo) There are many types of balance disorders. One of the most common is benign paroxysmal positional vertigo, or BPPV. In BPPV, you experience a brief, intense feeling of vertigo when you change the position of your head, such as when rolling over to the left or right, upon getting out of bed, or when looking for an object on a high or low shelf. BPPV is more likely to occur in adults aged 60 and older, but can also occur in younger people. In BPPV, small calcium particles in the inner ear become displaced and disrupt the inner ear balance sensors, causing dizziness. The reason they become displaced is not known; the cause may be an inner ear infection, head injury, or aging. Labyrinthitis This is an infection or inflammation of the inner ear that causes dizziness and loss of balance. It is often associated with an upper respiratory infection such as the flu. Mnire's Disease Mnire's disease is a balance disorder that causes a person to experience - vertigo - hearing loss that comes and goes - tinnitus, which is a ringing or roaring in the ears - a feeling of fullness in the ear. vertigo hearing loss that comes and goes tinnitus, which is a ringing or roaring in the ears a feeling of fullness in the ear. It affects adults of any age. The cause is unknown. See a fuller list of balance disorders. There are many ways to treat balance disorders. Treatments vary depending on the cause. See your doctor if you are experiencing dizziness, vertigo, or other problems with your balance.",NIHSeniorHealth,Balance Problems +How to prevent Balance Problems ?,"People are more likely to have problems with balance as they get older. But age is not the only reason these problems occur; there are other causes, too. In some cases, you can help reduce your risk for certain balance problems. Problems in the Inner Ear Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, also known as the labyrinth. When the labyrinth becomes infected or swollen, this condition is called labyrinthitis. It is typically accompanied by vertigo and imbalance. Upper respiratory infections and other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other Causes Other balance diseorers may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure can also cause dizziness. Aging, infections, head injury and many medicines may also result in a balance problem. Problems Caused by Medications Balance problems can also result from taking many medications. For example, some medicines, such as those that help lower blood pressure, can make a person feel dizzy. Ototoxic drugs are medicines that damage the inner ear. If your medicine is ototoxic, you may feel off balance. Sometimes the damage lasts only as long as you take the drug; many times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants - anti-seizure drugs (anticonvulsants) - hypertensive (high blood pressure) drugs - sedatives - tranquilizers - anxiolytics (anti-anxiety drugs) - aminoglycosides (a type of antibiotic) - diuretics - vasodilators - certain analgesics (painkillers) - certain chemotherapeutics (anti-cancer drugs). antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs). Check with your doctor if you notice a problem while taking a medication. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor will help you get the medication you need while trying to reduce unwanted side effects. Diet and Lifestyle Can Help Your diet and lifestyle can help you manage certain balance-related problems. For example, Mnire's disease, which causes vertigo and other balance and hearing problems, is linked to a change in the volume of fluid in the inner ear. By eating low-salt (low-sodium) or salt-free foods, and steering clear of caffeine and alcohol, you may make Mnire's disease symptoms less severe. See suggestions for limiting salt (sodium) in your diet. Balance problems due to high blood pressure can be managed by eating less salt (less sodium), maintaining a healthy weight, and exercising. Balance problems due to low blood pressure may be managed by drinking plenty of fluids, such as water, avoiding alcohol, and being cautious regarding your body's posture and movement, such as standing up slowly and avoiding crossing your legs when youre seated. Learn more about managing high blood pressure (hypertension). Learn more about manging low blood pressure (hypotension). Prevent Ear Infections The ear infection called otitis media is common in children, but adults can get it too. Otitis media can sometimes cause dizziness. You can help prevent otitis media by washing your hands frequently. Also, talk to your doctor about getting a yearly flu shot to stave off flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. Learn more about otitis media and other ear infections. (Centers for Disease Control and Prevention)",NIHSeniorHealth,Balance Problems +What are the symptoms of Balance Problems ?,"Some people may have a balance problem without realizing it. Others might think they have a problem, but are too embarrassed to tell their doctor, friends, or family. Here are common symtoms experienced by people with a balance disorder. Symptoms If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as: - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blurred vision - confusion or disorientation. dizziness or vertigo (a spinning sensation) falling or feeling as if you are going to fall lightheadedness, faintness, or a floating sensation blurred vision confusion or disorientation. Other symptoms might include nausea and vomiting, diarrhea, changes in heart rate and blood pressure, and fear, anxiety, or panic. Symptoms may come and go over short time periods or last for a long time, and can lead to fatigue and depression. Diagnosis Can Be Difficult Balance disorders can be difficult to diagnose. Sometimes they are a sign of other health problems, such as those affecting the brain, the heart, or circulation of the blood. People may also find it hard to describe their symptoms to the doctor. Questions to Ask Yourself You can help identify a balance problem by asking yourself some key questions. If you answer ""yes"" to any of these questions, you should discuss the symptom with your doctor. - Do I feel unsteady? - Do I feel as if the room is spinning around me, even only for brief periods of time? - Do I feel as if I'm moving when I know I'm standing or sitting still? - Do I lose my balance and fall? - Do I feel as if I'm falling? - Do I feel lightheaded, or as if I might faint? - Does my vision become blurred? - Do I ever feel disoriented, losing my sense of time, place, or identity? Do I feel unsteady? Do I feel as if the room is spinning around me, even only for brief periods of time? Do I feel as if I'm moving when I know I'm standing or sitting still? Do I lose my balance and fall? Do I feel as if I'm falling? Do I feel lightheaded, or as if I might faint? Does my vision become blurred? Do I ever feel disoriented, losing my sense of time, place, or identity? Questions to Ask Your Doctor If you think that you have a balance disorder, you should schedule an appointment with your family doctor. You can help your doctor make a diagnosis by writing down key information about your dizziness or balance problem beforehand and giving the information to your doctor during the visit. Tell your doctor as much as you can. Write down answers to these questions for your doctor: - How would you describe your dizziness or balance problem? - If it feels like the room is spinning around you, which ways does it appear to turn? - How often do you have dizziness or balance problems? - Have you ever fallen? - If so, when did you fall, where did you fall, and how often have you fallen? - What medications do you take? Remember to include all over-the-counter medications, including aspirin, antihistamines, and sleep aids. - What is the name of the medication? - How much do you take each day? - What times of the day do you take the medication? - What is the health condition for which you take the medication? How would you describe your dizziness or balance problem? If it feels like the room is spinning around you, which ways does it appear to turn? How often do you have dizziness or balance problems? Have you ever fallen? If so, when did you fall, where did you fall, and how often have you fallen? What medications do you take? Remember to include all over-the-counter medications, including aspirin, antihistamines, and sleep aids. What is the name of the medication? How much do you take each day? What times of the day do you take the medication? What is the health condition for which you take the medication? See a video about describing symptoms and health concerns during a doctor visit. Seeing a Specialist Your doctor may refer you to an otolaryngologist. This is a doctor with special training in problems of the ear, nose, throat, head, and neck. The otolaryngologist may ask you for your medical history and perform a physical examination to help figure out the possible causes of the balance disorder. He or she, as well as an audiologist (a person who specializes in assessing hearing and balance disorders), may also perform tests to determine the cause and extent of the problem. Learn what's involved in visiting a medical specialist.",NIHSeniorHealth,Balance Problems +What are the treatments for Balance Problems ?,"Your doctor can recommend strategies to help reduce the effects of a balance disorder. Scientists are studying ways to develop new, more effective methods to treat and prevent balance disorders. Balance disorders can be signs of other health problems, such as an ear infection, stroke, or multiple sclerosis. In some cases, you can help treat a balance disorder by seeking medical treatment for the illness that is causing the disorder. Exercises for Balance Disorders Some exercises help make up for a balance disorder by moving the head and body in certain ways. The exercises are developed especially for a patient by a professional (often a physical therapist) who understands the balance system and its relationship with other systems in the body. In benign paroxysmal positional vertigo, or BPPV, small calcium particles in the inner ear become displaced, causing dizziness. BPPV can often be effectively treated by carefully moving the head and torso to move the displaced calcium particles back to their original position. For some people, one session will be all that is needed. Others might need to repeat the procedure several times at home to relieve their dizziness. Treating Mnire's Disease Mnire's disease is caused by changes in fluid volumes in the inner ear. People with Mnire's disease can help reduce its dizzying effects by lowering the amount of sodium, or salt (sodium) in their diets. Limiting alcohol or caffeine also may be helpful. See suggestions for limiting salt (sodium) in your diet. Medications such as corticosteroids and the antibiotic gentamicin are used to treat Mnire's disease. Gentamicin can help reduce the dizziness that occurs with Mnire's disease, but in some cases it can also destroy sensory cells in the inner ear, resulting in permanent hearing loss. Corticosteroids don't cause hearing loss, but research is underway to determine if they are as effective as gentamicin. Learn more about ways to treat Mnire's disease. In some cases, surgery may be necessary to relieve a balance disorder. Treating Problems Due to High or Low Blood Pressure Balance problems due to high blood pressure can be managed by eating less salt (sodium), maintaining a healthy weight, and exercising. Balance problems due to low blood pressure may be managed by drinking plenty of fluids, such as water, avoiding alcohol, and being cautious regarding your body's posture and movement, such as standing up slowly and avoiding crossing your legs when youre seated. Learn more about managing high blood pressure (hypertension). Learn more about managing low blood pressure (hypotension). Coping with a Balance Disorder Some people with a balance disorder may not be able to fully relieve their dizziness and will need to find ways to cope with it. A vestibular rehabilitation therapist can help you develop an individualized treatment plan. Talk to your doctor about whether its safe to drive, as well as ways to lower your risk of falling and getting hurt during daily activities, such as when you walk up or down stairs, use the bathroom, or exercise. To reduce your risk of injury from dizziness, avoid walking in the dark. You should also wear low-heeled shoes or walking shoes outdoors. If necessary, use a cane or walker and modify conditions at your home and workplace, such as by adding handrails. Current Research Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. In a study funded by the National Institute on Deafness and Other Communication Disorders (NIDCD), researchers created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world, designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. See more information about research on balance problems.",NIHSeniorHealth,Balance Problems +What is (are) Balance Problems ?,"A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures.",NIHSeniorHealth,Balance Problems +How many people are affected by Balance Problems ?,"In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. See statistics about the frequency of balance and other sensory impairments in older adults. (Centers for Disease Control and Prevention)",NIHSeniorHealth,Balance Problems +What are the symptoms of Balance Problems ?,"If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blurred vision - confusion or disorientation. dizziness or vertigo (a spinning sensation) falling or feeling as if you are going to fall lightheadedness, faintness, or a floating sensation blurred vision confusion or disorientation. Other symptoms might include nausea and vomiting, diarrhea, changes in heart rate and blood pressure, and fear, anxiety, or panic. Symptoms may come and go over short time periods or last for a long time, and can lead to fatigue and depression.",NIHSeniorHealth,Balance Problems +What is (are) Balance Problems ?,"There are many types of balance disorders. Three of the most common are BPPV (benign paroxysmal positional vertigo), labyrinthitis, and Menieres disease. BPPV (benign paroxysmal positional vertigo) is one of the most common balance disorders among older adults. With BPPV, you experience a brief, intense feeling of vertigo that occurs when you change the position of your head. You may also experience BPPV when rolling over to the left or right upon getting out of bed, or when looking up for an object on a high shelf. In BPPV, small calcium particles in the inner ear become displaced, causing dizziness. The reason the particles get displaced is not known, although it may result from an inner ear infection, head injury, or aging. Labyrinthitis is is another type of balance disorder. The labyrinth is an organ of the inner ear that helps you maintain your balance. When the labyrinth becomes infected or swollen, it is typically accompanied by vertigo and imbalance. Upper respiratory infections and other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Mnire's disease is a balance disorder that causes - vertigo - hearing loss that comes and goes - tinnitus, which is a ringing or roaring in the ears - a feeling of fullness in the ear. vertigo hearing loss that comes and goes tinnitus, which is a ringing or roaring in the ears a feeling of fullness in the ear. Mnire's disease can affect adults of any age. The cause is unknown. See a fuller list of balance disorders.",NIHSeniorHealth,Balance Problems +What causes Balance Problems ?,"Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem.",NIHSeniorHealth,Balance Problems +What causes Balance Problems ?,"Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. Other times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants - anti-seizure drugs (anticonvulsants) - hypertensive (high blood pressure) drugs - sedatives - tranquilizers - anxiolytics (anti-anxiety drugs) - aminoglycosides (a type of antibiotic) - diuretics - vasodilators - certain analgesics (painkillers) - certain chemotherapeutics (anti-cancer drugs). antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs).",NIHSeniorHealth,Balance Problems +How to prevent Balance Problems ?,"An ear infection called otitis media can cause balance problems. Otitis media is most common in children, but adults can get it, too. You can help prevent otitis media by washing your hands frequently. Also, talk to your doctor about getting a yearly flu shot to stave off flu-related ear infections. If you do get an ear infection, see a doctor immediately before it becomes more serious. Learn more about otitis media and other ear infections. (Centers for Disease Control and Prevention)",NIHSeniorHealth,Balance Problems +What is (are) Balance Problems ?,"You can help your doctor make a diagnosis by writing down key information about your dizziness or balance problem beforehand and giving the information to your doctor during the visit. Write down answers to these questions for your doctor: - How would you describe your dizziness or balance problem? - If the room is spinning around you, which ways does it appear to turn? - How often do you have dizziness or balance problems? - Have you ever fallen? - If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. - What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. - What is the name of the medication? - How much medication do you take each day? - What times of the day do you take the medication? - What is the health condition for which you take the medication? How would you describe your dizziness or balance problem? If the room is spinning around you, which ways does it appear to turn? How often do you have dizziness or balance problems? Have you ever fallen? If so, when did you fall, where did you fall, and how often have you fallen? Tell your doctor as much as you can. What medications do you take? Remember to include all over-the-counter medicines, including aspirin, antihistamines, or sleep aids. What is the name of the medication? How much medication do you take each day? What times of the day do you take the medication? What is the health condition for which you take the medication? See a video on describing symptoms and health concerns during a doctor visit.",NIHSeniorHealth,Balance Problems +What are the treatments for Balance Problems ?,"In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. An NIDCD-supported clinical trial in BPPV showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs.",NIHSeniorHealth,Balance Problems +What are the treatments for Balance Problems ?,"Mnire's disease is caused by changes in fluid volumes in the inner ear. People with Mnire's disease can help reduce its dizzying effects by lowering the amount of salt (sodium) in their diets. Limiting alcohol or caffeine also may be helpful. Some medications, such as corticosteroids or the antibiotic gentamicin, also are used to treat Mnire's disease. Although gentamicin can help reduce the dizziness that occurs with Mnire's disease, it occasionally destroys sensory cells in the inner ear, which can result in permanent hearing loss. Corticosteroids don't cause hearing loss; however, research is underway to determine if they are as effective as gentamicin Learn more about the treatments for Mnire's disease.",NIHSeniorHealth,Balance Problems +How to prevent Balance Problems ?,"Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. NIDCD-funded researchers have created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world. It is designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing.",NIHSeniorHealth,Balance Problems +What is (are) Quitting Smoking for Older Adults ?,Many former smokers who are 50 and older say that their main reason for quitting was for their health or due to their doctors advice. Another common reason smokers quit is to be in control of their lives and to be free from cigarettes. A lot of former smokers also said that pleasing or helping a loved one was a big part of their decision to quit. These all are good reasons. The most important reasons for quitting are the ones you decide on for yourself.,NIHSeniorHealth,Quitting Smoking for Older Adults +What causes Quitting Smoking for Older Adults ?,"Yes. Smoking is the leading cause of cancer in the United States, and it increases the risk of many types of cancer, including - lung cancer - throat cancer - mouth cancer - nasal cavity cancer (cancer in the airways of the nose) - esophageal cancer (cancer of the esophagus) - stomach cancer - pancreatic cancer (cancer of the pancreas) - kidney cancer - bladder cancer - cervical cancer (cancer of the cervix) - acute myeloid leukemia (blood cancer). lung cancer throat cancer mouth cancer nasal cavity cancer (cancer in the airways of the nose) esophageal cancer (cancer of the esophagus) stomach cancer pancreatic cancer (cancer of the pancreas) kidney cancer bladder cancer cervical cancer (cancer of the cervix) acute myeloid leukemia (blood cancer). If you smoke, you are up to 10 times more likely to get cancer than a person who has never smoked. This depends on how much and how long you smoked.",NIHSeniorHealth,Quitting Smoking for Older Adults +What is (are) Quitting Smoking for Older Adults ?,"One of the keys to successfully quitting is preparation. A great way to prepare to quit smoking is to create a quit plan. Quit plans - keep you focused on quit smoking strategies that can help you be confident and motivated to quit - help you identify challenges you will face as you quit and ways to overcome them - can improve your chances of quitting smoking for good. keep you focused on quit smoking strategies that can help you be confident and motivated to quit help you identify challenges you will face as you quit and ways to overcome them can improve your chances of quitting smoking for good. Use these steps to create your own customized quit plan. Pick a Quit Date. Make a list of reasons to quit. Decide where you will get support. Decide on your Quit methods. Plan how to avoid your triggers. Plan how to overcome cravings and urges. Decide how to reward yourself after certain milestones. Plan what to do the day before your Quit Date. Here are some quit plan resources. - Check out Worksheets for Your Quit Plan on this website. - See ""Start Your Quit Plan Online Today"" at SmokeFree 60Plus, a quit-smoking website from the National Cancer Institute. - Learn about the Quit Guide from the Centers from Disease Control and Prevention (CDC). Check out Worksheets for Your Quit Plan on this website. See ""Start Your Quit Plan Online Today"" at SmokeFree 60Plus, a quit-smoking website from the National Cancer Institute. Learn about the Quit Guide from the Centers from Disease Control and Prevention (CDC).",NIHSeniorHealth,Quitting Smoking for Older Adults +What is (are) Quitting Smoking for Older Adults ?,"Quitlines are free, anonymous telephone counseling services. These programs have helped more than 3 million smokers. When you call a quitline, you talk to a trained counselor who can help you develop a strategy for quitting or help you stay on track. The counselor can provide material that could improve your chances of quitting. - You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time. You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time. - You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state. You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state. - If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays. If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays. You can also check out SmokeFree 60Plus. a quit-smoking website for older adults developed by the National Cancer Institute.",NIHSeniorHealth,Quitting Smoking for Older Adults +What is (are) Quitting Smoking for Older Adults ?,"These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults - Smokefree.gov - SmokefreeWomen - SmokefreeEspanol - SmokefreeVET Smokefree 60+.gov, a quit-smoking website for older adults Smokefree.gov SmokefreeWomen SmokefreeEspanol SmokefreeVET Other online resources are - Be Tobacco Free , a website from the U.S. Department of Health and Human Services - A Quit Guide from the Centers from Disease Control and Prevention (CDC). Be Tobacco Free , a website from the U.S. Department of Health and Human Services A Quit Guide from the Centers from Disease Control and Prevention (CDC). Most states also have quit-smoking websites that have resources, such as free supplies of nicotine replacement therapy, informational mailings, and more. Mobile tools can also help, especially when you're on the go. These include text messaging services and free apps. - See SmokefreeTXT, a text messaging service - See QuitSTART and QuitGuide, free quit smoking apps See SmokefreeTXT, a text messaging service See QuitSTART and QuitGuide, free quit smoking apps",NIHSeniorHealth,Quitting Smoking for Older Adults +What is (are) Prostate Cancer ?,"How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. How Prostate Cancer Occurs Prostate cancer occurs when a tumor forms in the tissue of the prostate, a gland in the male reproductive system. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive. The prostate is about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age. Prostate Cancer Can Spread Sometimes, cancer cells break away from a malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer -- not bone cancer. Doctors sometimes call this distant disease. Surviving Prostate Cancer Today, more men are surviving prostate cancer than ever before. Treatment can be effective, especially when the cancer has not spread beyond the region of the prostate.",NIHSeniorHealth,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease. Age Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65. Race Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. Family History A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Other Risk Factors Scientists have wondered whether obesity, lack of exercise, smoking, radiation exposure, might increase risk. But at this time, there is no firm evidence that these factors contribute to an increased risk.",NIHSeniorHealth,Prostate Cancer +What are the symptoms of Prostate Cancer ?,"Symptoms Most cancers in their early, most treatable stages don't cause any symptoms. Early prostate cancer usually does not cause symptoms. However, if prostate cancer develops and is not treated, it can cause these symptoms: - a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine - painful or burning urination - difficulty in having an erection - painful ejaculation - blood in urine or semen - pain or stiffness in the lower back, hips, or upper thighs. a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs. Any of these symptoms may be caused by cancer, but more often they are due to enlargement of the prostate, which is not cancer. If You Have Symptoms If you have any of these symptoms, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. The doctor will ask questions about your medical history and perform an exam to try to find the cause of the prostate problems. The PSA Test The doctor may also suggest a blood test to check your prostate specific antigen, or PSA, level. PSA levels can be high not only in men who have prostate cancer, but also in men with an enlarged prostate gland and men with infections of the prostate. PSA tests may be very useful for early cancer diagnosis. However, PSA tests alone do not always tell whether or not cancer is present. PSA screening for prostate cancer is not perfect. (Screening tests check for disease in a person who shows no symptoms.) Most men with mildly elevated PSA do not have prostate cancer, and many men with prostate cancer have normal levels of PSA. A recent study revealed that men with low prostate specific antigen levels, or PSA, may still have prostate cancer. Also, the digital rectal exam can miss many prostate cancers. Other Tests The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If Cancer is Present If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope. One way of grading prostate cancer, called the Gleason system, uses scores of 2 to 10. Another system uses G1 through G4. The higher the score, the higher the grade of the tumor. High-grade tumors grow more quickly and are more likely to spread than low-grade tumors.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Prostate Cancer Some prostate cancer patients take part in studies of new treatments. These studies -- called clinical trials -- are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Men with prostate cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on prostate cancer. A separate window will open. Click the ""x"" in the upper right hand corner of the ""Clinical Trials"" window to return here.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Choosing Treatment There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their possible side effects. Treatment for prostate cancer may involve watchful waiting, surgery, radiation therapy, or hormonal therapy. Some men receive a combination of therapies. A cure is the goal for men whose prostate cancer is diagnosed early. Weighing Treatment Options You and your doctor will want to consider both the benefits and possible side effects of each option, especially the effects on sexual activity and urination, and other concerns about quality of life. Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment. Watchful Waiting The doctor may suggest watchful waiting for some men who have prostate cancer that is found at an early stage and appears to be growing slowly. Also, watchful waiting may be advised for older men or men with other serious medical problems. For these men, the risks and possible side effects of surgery, radiation therapy, or hormonal therapy may outweigh the possible benefits. Doctors monitor these patients with regular check-ups. If symptoms appear or get worse, the doctor may recommend active treatment. Surgery Surgery is used to remove the cancer. It is a common treatment for early stage prostate cancer. The surgeon may remove the entire prostate with a type of surgery called radical prostatectomy or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. Side effects of the operation may include lack of sexual function or impotence, or problems holding urine or incontinence. Improvements in surgery now make it possible for some men to keep their sexual function. In some cases, doctors can use a technique known as nerve-sparing surgery. This may save the nerves that control erection. However, men with large tumors or tumors that are very close to the nerves may not be able to have this surgery. Some men with trouble holding urine may regain control within several weeks of surgery. Others continue to have problems that require them to wear a pad. Radiation Therapy Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery, or after surgery, to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend radiation to relieve pain or other symptoms. It may also be used in combination with hormonal therapy. Radiation can cause problems with impotence and bowel function. The radiation may come from a machine, which is external radiation, or from tiny radioactive seeds placed inside or near the tumor, which is internal radiation. Men who receive only the radioactive seeds usually have small tumors. Some men receive both kinds of radiation therapy. For external radiation therapy, patients go to the hospital or clinic -- usually for several weeks. Internal radiation may require patients to stay in the hospital for a short time. Hormonal Therapy Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. Side effects can include impotence, hot flashes, loss of sexual desire, and thinning of bones. Some hormone therapies increase the risk of blood clots. Monitoring Treatment Regardless of the type of treatment you receive, you will be closely monitored to see how well the treatment is working. Monitoring may include - a PSA blood test -- usually every 3 months to 1 year. - bone scan and/or CT scan to see if the cancer has spread. - a complete blood count to monitor for signs and symptoms of anemia. - looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function. a PSA blood test -- usually every 3 months to 1 year. bone scan and/or CT scan to see if the cancer has spread. a complete blood count to monitor for signs and symptoms of anemia. looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function.",NIHSeniorHealth,Prostate Cancer +what research (or clinical trials) is being done for Prostate Cancer ?,"Scientists continue to look at new ways to prevent, treat, and diagnose prostate cancer. Research has already led to a number of advances in these areas. Dietary Research Several studies are under way to explore the causes of prostate cancer. Some researchers think that diet may affect a man's chances of developing prostate cancer. For example, some studies show that prostate cancer is more common in populations that consume a high-fat diet, particularly animal fat, and in populations with diets that lack certain nutrients. Research on Testosterone Some research suggests that high levels of testosterone may increase a man's risk of prostate cancer. The difference in prostate cancer risk among racial groups could be related to high testosterone levels, but it also could result from diet or other lifestyle factors. Genetic Research Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, such as less than 55 years old, and the genes of families who have several members with the disease. Other studies are trying to identify which genes, or arrangements of genes, are most likely to lead to prostate cancer. Much more work is needed, however, before scientists can say exactly how genetic changes relate to prostate cancer. Prevention Research Several studies have explored ways to prevent prostate cancer. In October 2008, initial results of a study on the use of the dietary supplements vitamin E and selenium found that they did not provide any benefit in reducing the number of new cases of the disease. A few studies suggest that a diet that regularly includes tomato-based foods may help protect men from prostate cancer, but there are no studies that conclusively prove this hypothesis. According to results of a study that was re-analyzed in 2013, men who took finasteride, a drug that affects male hormone levels, reduced their chances of getting prostate cancer by nearly 30 percent compared to men who took a placebo. Unlike earlier findings from this study, this new analysis showed no increased risk of late stage disease due to use of finasteride. Stopping Prostate Cancer from Returning Scientists are also looking at ways to stop prostate cancer from returning in men who have already been treated for the disease. These approaches use drugs such as finasteride, flutamide, nilutamide, and LH-RH agonists that manipulate hormone levels. In 2010, the FDA approved a therapeutic cancer vaccine, Provenge, for use in some men with metastatic prostate cancer. Provenge may provide a 4-month improvement in overall survival compared with a placebo vaccine. Other similar vaccine therapies are in development. Research on New Blood Tests Some researchers are working to develop new blood tests to detect the antibodies that the immune system produces to fight prostate cancer. When used along with PSA testing, the antibody tests may provide more accurate results about whether or not a man has prostate cancer. Researching New Approaches to Treatment Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact with the tumor to freeze it. Doctors are studying new ways of using radiation therapy and hormonal therapy, too. Studies have shown that hormonal therapy given after radiation therapy can help certain men whose cancer has spread to nearby tissues. Scientists are also testing the effectiveness of chemotherapy and biological therapy for men whose cancer does not respond, or stops responding, to hormonal therapy. They are also exploring new ways to schedule and combine various treatments. For example, they are studying hormonal therapy to find out if using it to shrink the tumor before a man has surgery or radiation might be a useful approach. For men with early stage prostate cancer, researchers are also comparing treatment with watchful waiting. The results of this work will help doctors know whether to treat early stage prostate cancer immediately or only later on, if symptoms occur or worsen.",NIHSeniorHealth,Prostate Cancer +What is (are) Prostate Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.",NIHSeniorHealth,Prostate Cancer +What is (are) Prostate Cancer ?,"The prostate is a male sex gland, about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer occurs when a tumor forms in the tissue of the prostate. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive.",NIHSeniorHealth,Prostate Cancer +How many people are affected by Prostate Cancer ?,"Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age.",NIHSeniorHealth,Prostate Cancer +What is (are) Prostate Cancer ?,"Sometimes, cancer cells break away from the malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer, not bone cancer. Doctors sometimes call this ""distant"" disease.",NIHSeniorHealth,Prostate Cancer +What causes Prostate Cancer ?,"Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease.",NIHSeniorHealth,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65.",NIHSeniorHealth,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Yes. Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Diet also may play a role. There is some evidence that a diet high in animal fat may increase the risk of prostate cancer and a diet high in fruits and vegetables may decrease the risk. Studies to find out whether men can reduce their risk of prostate cancer by taking certain dietary supplements are ongoing.",NIHSeniorHealth,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Scientists have wondered whether obesity, lack of exercise, smoking, and radiation exposure, might increase risk. But at this time, there is no conclusive evidence that any of these factors contribute to an increased risk.",NIHSeniorHealth,Prostate Cancer +What are the symptoms of Prostate Cancer ?,"- a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine If prostate cancer develops and is not treated, it can cause these symptoms: - painful or burning urination - difficulty in having an erection - painful ejaculation - blood in urine or semen - pain or stiffness in the lower back, hips, or upper thighs painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs",NIHSeniorHealth,Prostate Cancer +What are the symptoms of Prostate Cancer ?,"Yes. Any of the symptoms caused by prostate cancer may also be due to enlargement of the prostate, which is not cancer. If you have any of the symptoms mentioned in question #10, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system.",NIHSeniorHealth,Prostate Cancer +How to diagnose Prostate Cancer ?,"Doctors use tests to detect prostate abnormalities, but tests cannot show whether abnormalities are cancer or another, less serious condition. The results from these tests will help the doctor decide whether to check the patient further for signs of cancer. The most common test is a blood test for prostate specific antigen or PSA -- a lab measures the levels of PSA in a blood sample. The level of PSA may rise in men who have prostate cancer, an enlarged prostate, or infection in the prostate.",NIHSeniorHealth,Prostate Cancer +How to diagnose Prostate Cancer ?,"The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their possible side effects. Treatment for prostate cancer may involve watchful waiting, surgery, radiation therapy, or hormonal therapy. Some men receive a combination of therapies. A cure is probable for men whose prostate cancer is diagnosed early.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"With watchful waiting, a man's condition is closely monitored, but treatment does not begin until symptoms appear or change. The doctor may suggest watchful waiting for some men who have prostate cancer that is found at an early stage and appears to be growing slowly. Also, watchful waiting may be advised for older men or men with other serious medical problems. For these men, the risks and possible side effects of surgery, radiation therapy, or hormonal therapy may outweigh the possible benefits. Doctors monitor these patients with regular check-ups. If symptoms appear or get worse, the doctor may recommend active treatment.",NIHSeniorHealth,Prostate Cancer +What is (are) Prostate Cancer ?,"Surgery is a common treatment for early stage prostate cancer. It is used to remove the cancer. The surgeon may remove the entire prostate -- a type of surgery called radical prostatectomy -- or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. Side effects may include lack of sexual function (impotence), or problems holding urine (incontinence).",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery or after surgery to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend it to relieve pain or other symptoms. Radiation can cause problems with impotence and bowel function. The radiation may come from a machine, which is external radiation, or from tiny radioactive seeds placed inside or near the tumor, which is internal radiation. Men who receive only the radioactive seeds usually have small tumors. Some men receive both kinds of radiation therapy. For external radiation therapy, patients go to the hospital or clinic -- usually 5 days a week for several weeks. Internal radiation may require patients to stay in the hospital for a short time.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. Side effects can include impotence, hot flashes, loss of sexual desire, and thinning of bones.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Regardless of the type of treatment you receive, you will be closely monitored to see how well the treatment is working. Monitoring may include - a PSA blood test, usually every 3 months to 1 year. - bone scan and/or CT scan to see if the cancer has spread. a PSA blood test, usually every 3 months to 1 year. bone scan and/or CT scan to see if the cancer has spread. - a complete blood count to monitor for signs and symptoms of anemia. - looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function. a complete blood count to monitor for signs and symptoms of anemia. looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function.",NIHSeniorHealth,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact with the tumor to freeze it. Doctors are studying new ways of using radiation therapy and hormonal therapy, too. Studies have shown that hormonal therapy given after radiation therapy can help certain men whose cancer has spread to nearby tissues. Scientists are also testing the effectiveness of chemotherapy and biological therapy for men whose cancer does not respond or stops responding to hormonal therapy. They are also exploring new ways to schedule and combine various treatments. For example, they are studying hormonal therapy to find out if using it to shrink the tumor before a man has surgery or radiation might be a useful approach. They are also testing combinations of hormone therapy and vaccines to prevent recurrence of prostate cancer. In 2010, the FDA approved a therapeutic cancer vaccine, Provenge, for use in some men with metastatic prostate cancer. This approval was based on the results of a clinical trial that demonstrated a more than 4-month improvement in overall survival compared with a placebo vaccine. Other similar vaccine therapies are in development.",NIHSeniorHealth,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, less than 55 years old, and the genes of families who have several members with the disease. Other studies are trying to identify which genes, or arrangements of genes, are most likely to lead to prostate cancer. Much more work is needed, however, before scientists can say exactly how genetic changes relate to prostate cancer. At the moment, no genetic risk has been firmly established.",NIHSeniorHealth,Prostate Cancer +What is (are) Dry Mouth ?,"Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. Many older adults have dry mouth, but it is not a normal part of aging. (Watch the video to learn more about dry mouth. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Why Saliva is Important Saliva does more than keep your mouth wet. It protects teeth from decay, helps heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva helps digest food and helps us chew and swallow. Saliva is involved in taste perception as well. Each of these functions of saliva is hampered when a person has dry mouth. How Dry Mouth Feels Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, making swallowing difficult and choking common. Also, people with dry mouth may get mouth sores, cracked lips, and a dry, rough tongue.",NIHSeniorHealth,Dry Mouth +What causes Dry Mouth ?,"People get dry mouth when the glands in the mouth that make saliva are not working properly. Because of this, there might not be enough saliva to keep your mouth healthy. There are several reasons why these glands, called salivary glands, might not work right. Medicines and Dry Mouth More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth. Diseases That Can Cause Dry Mouth Some diseases can affect the salivary glands. Dry mouth can occur in patients with diabetes. Dry mouth is also the hallmark symptom of the fairly common autoimmune disease Sjgren's syndrome. Sjgren's syndrome can occur either by itself or with another autoimmune disease like rheumatoid arthritis or lupus. Salivary and tear glands are the major targets of the syndrome and the result is a decrease in production of saliva and tears. The disorder can occur at any age, but the average person with the disorder at the Sjgren's Syndrome Clinic of the National Institute of Dental and Craniofacial Research (NIDCR) is in his or her late 50s. Women with the disorder outnumber men 9 to 1. Cancer Treatments and Dry Mouth Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.",NIHSeniorHealth,Dry Mouth +What are the treatments for Dry Mouth ?,"Treatment for Dry Mouth Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. If your salivary glands are not working right but can still produce some saliva, your dentist or physician might give you a medicine that helps the glands work better. Your dentist or physician might also suggest that you use artificial saliva to keep your mouth wet. Do's and Don'ts Do's - Do drink water or sugarless drinks often. That will make chewing and swallowing easier when eating. - Do chew sugarless gum or suck on sugarless hard candy to stimulate saliva flow. - Do use a humidifier at night to promote moisture in the air while you sleep. Do drink water or sugarless drinks often. That will make chewing and swallowing easier when eating. Do chew sugarless gum or suck on sugarless hard candy to stimulate saliva flow. Do use a humidifier at night to promote moisture in the air while you sleep. Donts - Don't consume drinks with caffeine such as coffee, tea, and some sodas. Caffeine can dry out the mouth. - Don't use tobacco or alcohol. They dry out the mouth. Don't consume drinks with caffeine such as coffee, tea, and some sodas. Caffeine can dry out the mouth. Don't use tobacco or alcohol. They dry out the mouth. Gene Therapy Research for Salivary Gland Dysfunction Scientists at NIHs National Institute of Dental and Craniofacial Research (NIDCR) are exploring the potential use of gene therapy to treat salivary gland dysfunction. The idea is to transfer additional or replacement genes into the salivary glands of people with Sjgren's syndrome and cancer patients whose salivary glands were damaged during radiation treatment. The hope is that these genes will increase the production of saliva and eliminate the chronic parched sensation that bothers people with dry mouth conditions. NIDCR recently completed a clinical study, a research study in humans, on gene therapy for radiation-damaged salivary glands. The study showed that gene therapy can be safely performed in salivary glands and that it has the potential to help head and neck cancer survivors with dry mouth. Read NIDCRs news release to learn more about the studys findings. Based on the promising results of this trial, similar clinical trials are planned in the near future. Research on Sjgrens Syndrome and Other Diseases Affecting Salivary Glands NIDCR is also conducting clinical trials to study new approaches for improving salivary flow in patients with Sjogrens syndrome. Such studies include testing the effectiveness of a monoclonal antibody as well as a corticosteroid to see whether either of these treatments helps improve salivary flow. Other studies are focused on learning how diseases such as diabetes, auto inflammatory diseases, and granulomatous diseases cause salivary gland dysfunction. Such studies could one day lead to better ways of preventing and treating salivary gland conditions. To stay abreast of any new studies on gene therapy and salivary gland function, visit ClinicalTrials.gov. ClinicalTrials.gov lists all federally and many privately funded clinical trials in the U.S. and around the world; the web site is updated frequently.",NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"Dry mouth is the condition of not having enough saliva, or spit, to keep your mouth wet. Everyone has dry mouth once in a while -- if they are nervous, upset, or under stress. But if you have dry mouth all or most of the time, it can be uncomfortable and lead to serious health problems. Though many older adults have dry mouth, it is not a normal part of aging. (Watch the video to learn more about dry mouth. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"Saliva does more than keep your mouth wet. It helps digest food, protects teeth from decay, helps to heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva is also what helps us chew and swallow. Each of these functions of saliva is hampered when a person has dry mouth.",NIHSeniorHealth,Dry Mouth +What causes Dry Mouth ?,"Dry mouth can cause several problems, including difficulty tasting, chewing, swallowing, and speaking. Swallowing may be especially difficult for those with too little saliva. For example, people with dry mouth may be unable to swallow dry food at all unless they also drink fluids with food. They also need to take small bites of food and be very aware of chewing and swallowing so they don't choke. Dry mouth may also increase the chance of developing dental decay as well as oral fungal infections such as thrush, which causes painful white patches in the mouth.",NIHSeniorHealth,Dry Mouth +What are the symptoms of Dry Mouth ?,"Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, and swallowing without extra fluids can often be difficult. Also, people with dry mouth may develop mouth sores, cracked lips, and a dry, rough tongue.",NIHSeniorHealth,Dry Mouth +What causes Dry Mouth ?,"Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth.",NIHSeniorHealth,Dry Mouth +What are the treatments for Dry Mouth ?,"Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky.",NIHSeniorHealth,Dry Mouth +What causes Dry Mouth ?,Some diseases affect the salivary glands. Sjgren's syndrome and diabetes can cause dry mouth. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva.,NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"Sjgren's Syndrome Clinic National Institute of Dental and Craniofacial Research Building 10, Room 1N113 10 Center Drive MSC 1190 Bethesda, MD 20892-1190 301-435-8528 http://www.nidcr.nih.gov/Research/NIDCRLaboratories/ MolecularPhysiology/SjogrensSyndrome/default.htm",NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007.htm.",NIHSeniorHealth,Dry Mouth +What are the treatments for Dry Mouth ?,"Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. If your salivary glands are not working right, but can still produce some saliva, your dentist or physician might give you a special medicine that helps the glands work better. He or she might suggest that you use artificial saliva to keep your mouth wet. (Watch the video to learn how dry mouth is treated. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"You should avoid sticky and sugary foods. If you do eat them, brush immediately afterwards. Also, be aware that spicy and salty foods can cause pain in a dry mouth. You should also avoid drinks with caffeine and alcohol. They can dry out the mouth.",NIHSeniorHealth,Dry Mouth +What is (are) Dry Mouth ?,"National Institute of Dental and Craniofacial Research 1 NOHIC Way Bethesda, MD 20892-3500 (301) 402-7364 http://www.nidcr.nih.gov",NIHSeniorHealth,Dry Mouth +What is (are) Osteoporosis ?,"A Bone Disease Osteoporosis is a disease that thins and weakens the bones to the point that they become fragile and break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but any bone can be affected. You can't ""catch"" osteoporosis or give it to someone else. In the United States, more than 53 million people either already have osteoporosis or are at high risk due to low bone mass, placing them at risk for more serious bone loss and fractures. Although osteoporosis can strike at any age, it is most common among older people, especially older women. How Bone Loss Occurs Bone is living tissue. Throughout our lives, the body breaks down old bone and replaces it with new bone. But as people age, more bone is broken down than is replaced. The inside of a bone normally looks like a honeycomb, but when a person has osteoporosis, the spaces inside this honeycomb become larger, reflecting the loss of bone density and strength. (The word ""osteoporosis"" means ""porous bone."") The outside of long bones -- called the cortex -- also thins, further weakening the bone. Sometime around the age of 30, bone mass stops increasing, and the goal for bone health is to keep as much bone as possible for as long as you can. In most women, the rate of bone loss increases for several years after menopause, then slows down again, but continues. In men, the bone loss occurs more slowly. But by age 65 or 70, most men and women are losing bone at the same rate. Weak Bones Can Lead to Fractures Osteoporosis is often called ""silent"" because bone loss occurs without symptoms. People may not know that they have osteoporosis until a sudden strain, bump, or fall causes a bone to break. This can result in a trip to the hospital, surgery, and possibly a long-term disabling condition. Broken bones in your spine are painful and very slow to heal. People with weak bones in their spine gradually lose height and their posture becomes hunched over. Over time a bent spine can make it hard to walk or even sit up. Broken hips are a very serious problem as we age. They greatly increase the risk of death, especially during the year after they break. People who break a hip might not recover for months or even years. Because they often cannot care for themselves, they are more likely to have to live in a nursing home. Prevention and Treatment The good news is that osteoporosis can often be prevented and treated. Healthy lifestyle choices such as proper diet, exercise, and treatment medications can help prevent further bone loss and reduce the risk of fractures.",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"Risk Factors You Can't Change Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. - Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. - Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. - Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. - History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Risk Factors You Can Change There are other risk factors for osteoporosis that can be changed. - Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. - Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. - Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. - Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. - Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis. Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis. Use this checklist to find out if you are at risk for weak bones. Many of these risk factors, both ones you can change and ones you cannot change, affect peak bone mass, which is when your bones achieve maximum strength and density. Because high peak bone density can reduce osteoporosis risk later in life, it makes sense to pay more attention to those factors that affect peak bone mass. Learn more about peak bone mass.",NIHSeniorHealth,Osteoporosis +What are the symptoms of Osteoporosis ?,"Fractures -- A Possible Warning Sign Osteoporosis does not have any symptoms until a fracture occurs. Women and men with osteoporosis most often break bones in the hip, spine, and wrist. But any fracture in an older person could be a warning sign that the bone is weaker than optimal. Some people may be unaware that they have already experienced one or more spine fractures. Height loss of one inch or more may be the first sign that someone has experienced spine fractures due to osteoporosis. Multiple spine fractures can cause a curved spine, stooped posture, back pain, and back fatigue. Women and men who have had a fracture are at high risk of experiencing another one. A fracture over the age of 50 or several fractures before that age may be a warning sign that a person has already developed osteoporosis. People over the age of 50 who have experienced a fracture should talk to their doctor about getting evaluated for osteoporosis. Risk Factors for Fractures The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medications, such as tranquilizers and muscle relaxants - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. The angle at which you fall also affects your risk of fracture. Hip Fractures Although low bone mass (or low bone density) plays an important role in determining a person's risk of osteoporosis, it is only one of many risk factors for fractures. Various aspects of bone geometry, such as tallness, hip structure, and thighbone (femur) length, can also affect your chances of breaking a bone if you fall. Increasing age, too much weight loss, a history of fractures since age 50, having an existing spine fracture, and having a mother who fractured her hip all increase the risk of hip fracture regardless of a person's bone density. People with more risk factors have a higher chance of suffering a hip fracture.",NIHSeniorHealth,Osteoporosis +How to diagnose Osteoporosis ?,"Who Should Be Tested? The United States Preventive Service Task Force recommends that women aged 65 and older be screened (tested) for osteoporosis, as well as women aged 60 and older who are at increased risk for an osteoporosis-related fracture. However, the decision of whether or not to have a bone density test is best made between a patient and his or her physician. Medicare will usually cover the cost of a bone density test, and a follow up test every 2 years, for female beneficiaries. It also will cover screening and follow up of any male Medicare recipients who have significant risk factors for osteoporosis. When To Talk With a Doctor Consider talking to your doctor about being evaluated for osteoporosis if - you are a man or woman over age 50 or a postmenopausal woman and you break a bone - you are a woman age 65 or older - you are a woman younger than 65 and at high risk for fractures - you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause - you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss - you have a chronic illness or are taking a medication that is known to cause bone loss - you have anorexia nervosa or a history of this eating disorder. - you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. you are a man or woman over age 50 or a postmenopausal woman and you break a bone you are a woman age 65 or older you are a woman younger than 65 and at high risk for fractures you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss you have a chronic illness or are taking a medication that is known to cause bone loss you have anorexia nervosa or a history of this eating disorder. you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. Diagnosing Osteoporosis Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history. The doctor will also do a physical exam that should include checking for loss of height and changes in posture and may include checking your balance and gait (the way you walk). Bone Density Tests The test used to diagnose osteoporosis is called a bone density test. This test is a measure of how strong -- or dense -- your bones are and can help your doctor predict your risk for having a fracture. Bone density tests are painless, safe, and require no preparation on your part. Bone density tests compare your bone density to the bones of an average healthy young adult. The test result, known as a T-score, tells you how strong your bones are, whether you have osteoporosis or osteopenia (low bone mass that is not low enough to be diagnosed as osteoporosis), and your risk for having a fracture. Some bone density tests measure the strength of the hip, spine, and/or wrist, which are the bones that break most often in people with osteoporosis. Other tests measure bone in the heel or hand. Although no bone density test is 100 percent accurate, it is the single most important diagnostic test to predict whether a person will have a fracture in the future. The most widely recognized bone density test is a central DXA (dual-energy x-ray absorptiometry) scan of the hip and spine. This test shows if you have normal bone density, low bone mass, or osteoporosis. It is also used to monitor bone density changes as a person ages or in response to treatment.",NIHSeniorHealth,Osteoporosis +What are the treatments for Osteoporosis ?,"Who Treats Osteoporosis? Although there is no cure for osteoporosis, it can be treated. If your doctor does not specialize in osteoporosis, he or she can refer you to a specialist. There is not one type of doctor who cares for people with osteoporosis. Many family doctors have been learning about osteoporosis and can treat people who have it. Endocrinologists, rheumatologists, geriatricians, and internists are just a few of the specialists who can provide care to people with osteoporosis. Here is how to find an appropriate health care professional to treat osteoporosis. The Goal of Treatment The goal of treatment is to prevent fractures. A balanced diet rich in calcium, adequate vitamin D, a regular exercise program, and fall prevention are all important for maintaining bone health. Medications Several medications are approved by the Food and Drug Administration for the treatment of osteoporosis. Since all medications have side effects, it is important to talk to your doctor about which medication is right for you. Bisphosphonates. Several bisphosphonates are approved for the prevention or treatment of osteoporosis. These medications reduce the activity of cells that cause bone loss. - Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. - A few people have muscle, bone, or joint pain while using these medicines. A few people have muscle, bone, or joint pain while using these medicines. - Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. - The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. Parathyroid hormone. A form of human parathyroid hormone (PTH) is approved for postmenopausal women and men with osteoporosis who are at high risk for having a fracture. Use of the drug for more than 2 years is not recommended. RANK ligand (RANKL) inhibitor. A RANK ligand (RANKL) inhibitor is approved for postmenopausal women with osteoporosis who are at high risk for fracture Estrogen agonists/antagonists. An estrogen agonist/ antagonist (also called a selective estrogen receptor modulator or SERM) is approved for the prevention and treatment of osteoporosis in postmenopausal women. SERMs are not estrogens, but they have estrogen-like effects on some tissues and estrogen-blocking effects on other tissues. Calcitonin. Calcitonin is approved for the treatment of osteoporosis in women who are at least 5 years beyond menopause. Calcitonin is a hormone involved in calcium regulation and bone metabolism. Estrogen and Hormone Therapy. Estrogen is approved for the treatment of menopausal symptoms and osteoporosis in women after menopause. - Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first. Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first.",NIHSeniorHealth,Osteoporosis +what research (or clinical trials) is being done for Osteoporosis ?,"Scientists are pursuing a wide range of basic and clinical studies on osteoporosis. Significant advances in preventing and treating osteoporosis continue to be made. Such advances are the direct result of research focused on - determining the causes and consequences of bone loss at the cellular and tissue levels - assessing risk factors - developing new strategies to maintain and even enhance bone density and reduce fracture risk - exploring the roles of such factors as genetics, hormones, calcium, vitamin D, drugs, and exercise on bone mass. determining the causes and consequences of bone loss at the cellular and tissue levels assessing risk factors developing new strategies to maintain and even enhance bone density and reduce fracture risk exploring the roles of such factors as genetics, hormones, calcium, vitamin D, drugs, and exercise on bone mass. Get more information about ongoing research on osteoporosis from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at NIH.",NIHSeniorHealth,Osteoporosis +What is (are) Osteoporosis ?,"Osteoporosis is a disease that thins and weakens the bones to the point that they break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but osteoporosis can be the cause of bone fractures anywhere.",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. - Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. - Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. - Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. - History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another.",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"Here are risk factors for osteoporosis that you can control. - Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. - Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. - Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. - Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. - Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis. Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis.",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"If you have any of these red flags, you could be at high risk for weak bones. Talk to your doctor, nurse, pharmacist, or other health care professional. Do any of these apply to you? - ____ Im older than 65. - ____ Ive broken a bone after age 50. - ____ My close relative has osteoporosis or has broken a bone. - ____ My health is fair or poor. - ____ I smoke. - ____ I am underweight for my height. - ____ I started menopause before age 45. - ____ Ive never gotten enough calcium. - ____ I have more than two drinks of alcohol several times a week. - ____ I have poor vision, even with glasses. - ____ I sometimes fall. - ____ Im not active. - ____ I have one of these medical conditions: - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis ____ Im older than 65. ____ Ive broken a bone after age 50. ____ My close relative has osteoporosis or has broken a bone. ____ My health is fair or poor. ____ I smoke. ____ I am underweight for my height. ____ I started menopause before age 45. ____ Ive never gotten enough calcium. ____ I have more than two drinks of alcohol several times a week. ____ I have poor vision, even with glasses. ____ I sometimes fall. ____ Im not active. ____ I have one of these medical conditions: - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis Hyperthyroidism Chronic lung disease Cancer Inflammatory bowel disease Chronic hepatic or renal disease Hyperparathyroidism Vitamin D deficiency Cushings disease Multiple sclerosis Rheumatoid arthritis - ____ I take one of these medicines: - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents ____ I take one of these medicines: - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents Oral glucocorticoids (steroids) Cancer treatments (radiation, chemotherapy) Thyroid medicine Antiepileptic medications Gonadal hormone suppression Immunosuppressive agents",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"Women have smaller bones, and they lose bone more rapidly than men because of hormone changes that occur after menopause. Therefore, women are at higher risk for osteoporosis.",NIHSeniorHealth,Osteoporosis +How to prevent Osteoporosis ?,"Preventing falls is a special concern for men and women with osteoporosis. Falls can increase the likelihood of fracturing a bone in the hip, wrist, spine, or other part of the skeleton. In addition to the environmental factors listed below, falls can also be caused by impaired vision or balance, chronic diseases that affect mental or physical functioning, and certain medications, such as sedatives and antidepressants. It is also important that individuals with osteoporosis be aware of any physical changes that affect their balance or gait, and that they discuss these changes with their health care provider. Here are some tips to help eliminate the environmental factors that lead to falls. Outdoors: - Use a cane or walker for added stability. - Wear rubber-soled shoes for traction. - Walk on grass when sidewalks are slippery. - In winter, carry salt or kitty litter to sprinkle on slippery sidewalks. - Be careful on highly polished floors that become slick and dangerous when wet. - Use plastic or carpet runners when possible. Use a cane or walker for added stability. Wear rubber-soled shoes for traction. Walk on grass when sidewalks are slippery. In winter, carry salt or kitty litter to sprinkle on slippery sidewalks. Be careful on highly polished floors that become slick and dangerous when wet. Use plastic or carpet runners when possible. Indoors: - Keep rooms free of clutter, especially on floors. - Keep floor surfaces smooth but not slippery. - Wear supportive, low-heeled shoes even at home. - Avoid walking in socks, stockings, or slippers. - Be sure carpets and area rugs have skid-proof backing or are tacked to the floor. - Be sure stairwells are well lit and that stairs have handrails on both sides. - Install grab bars on bathroom walls near tub, shower, and toilet. - Use a rubber bath mat in shower or tub. - Keep a flashlight with fresh batteries beside your bed. - If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps. - Add ceiling fixtures to rooms lit by lamps. - Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Keep rooms free of clutter, especially on floors. Keep floor surfaces smooth but not slippery. Wear supportive, low-heeled shoes even at home. Avoid walking in socks, stockings, or slippers. Be sure carpets and area rugs have skid-proof backing or are tacked to the floor. Be sure stairwells are well lit and that stairs have handrails on both sides. Install grab bars on bathroom walls near tub, shower, and toilet. Use a rubber bath mat in shower or tub. Keep a flashlight with fresh batteries beside your bed. If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps. Add ceiling fixtures to rooms lit by lamps. Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Learn more about devices that can help prevent falls in older adults.",NIHSeniorHealth,Osteoporosis +Who is at risk for Osteoporosis? ?,"The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medications, such as tranquilizers and muscle relaxants - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.",NIHSeniorHealth,Osteoporosis +What is (are) Osteoporosis ?,"If you have osteoporosis, ask your doctor which activities are safe for you. If you have low bone mass, experts recommend that you protect your spine by avoiding exercises or activities that flex, bend, or twist it. Furthermore, you should avoid high-impact exercise to lower the risk of breaking a bone. You also might want to consult with an exercise specialist to learn the proper progression of activity, how to stretch and strengthen muscles safely, and how to correct poor posture habits. An exercise specialist should have a degree in exercise physiology, physical education, physical therapy, or a similar specialty. Be sure to ask if he or she is familiar with the special needs of people with osteoporosis. If you have health problemssuch as heart trouble, high blood pressure, diabetes, or obesityor if you aren't used to energetic activity, check with your doctor before you begin a regular exercise program.",NIHSeniorHealth,Osteoporosis +What are the symptoms of Osteoporosis ?,Osteoporosis does not have any symptoms until a fracture occurs. Some people may be unaware that they have already experienced one or more spine fractures. Height loss of one inch or more may be the first sign that someone has experienced spinal fractures due to osteoporosis. People who have experienced a fracture are at high risk of having another one. A fracture over the age of 50 or several fractures before that age may be a warning sign that a person has already developed osteoporosis. Any fracture in an older person should be followed up for suspicion of osteoporosis.,NIHSeniorHealth,Osteoporosis +What is (are) Osteoporosis ?,"Consider talking to your doctor about being evaluated for osteoporosis if - you are a man or woman over age 50 or a postmenopausal woman and you break a bone - you are a woman age 65 or older - you are a woman younger than 65 and at high risk for fractures - you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause - you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss - you have a chronic illness or are taking a medication that is known to cause bone loss - you have anorexia nervosa or a history of this eating disorder. - you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. you are a man or woman over age 50 or a postmenopausal woman and you break a bone you are a woman age 65 or older you are a woman younger than 65 and at high risk for fractures you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss you have a chronic illness or are taking a medication that is known to cause bone loss you have anorexia nervosa or a history of this eating disorder. you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. Here is how to find an appropriate health care professional to treat osteoporosis.",NIHSeniorHealth,Osteoporosis +How to diagnose Osteoporosis ?,"Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history.",NIHSeniorHealth,Osteoporosis +What are the treatments for Osteoporosis ?,"A comprehensive osteoporosis treatment program includes a focus on proper nutrition, exercise, and safety issues to prevent falls that may result in fractures. In addition, your doctor may prescribe a medication to slow or stop bone loss, increase bone density, and reduce fracture risk. Nutrition. The foods we eat contain a variety of vitamins, minerals, and other important nutrients that help keep our bodies healthy. All of these nutrients are needed in balanced proportion. In particular, calcium and vitamin D are needed for strong bones and for your heart, muscles, and nerves to function properly. Exercise. Exercise is an important component of an osteoporosis prevention and treatment program. Exercise not only improves your bone health, but it increases muscle strength, coordination, and balance, and leads to better overall health. Although exercise is good for someone with osteoporosis, it should not put any sudden or excessive strain on your bones. As extra insurance against fractures, your doctor can recommend specific exercises to strengthen and support your back. Therapeutic medications. Several medications are available for the prevention and/or treatment of osteoporosis, including: bisphosphonates; estrogen agonists/antagonists (also called selective estrogen receptor modulators or SERMS); calcitonin; parathyroid hormone; estrogen therapy; hormone therapy; and a recently approved RANK ligand (RANKL) inhibitor. (Watch the video to learn how exercise helped a 70-year-old woman with osteoporosis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Osteoporosis +What are the treatments for Osteoporosis ?,"Several medications are approved by the Food and Drug Administration for the treatment of osteoporosis. Since all medications have side effects, it is important to talk to your doctor about which medication is right for you. Bisphosphonates. Several bisphosphonates are approved for the prevention or treatment of osteoporosis. These medications reduce the activity of cells that cause bone loss. - Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. - A few people have muscle, bone, or joint pain while using these medicines. A few people have muscle, bone, or joint pain while using these medicines. - Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. - The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. Parathyroid hormone. A form of human parathyroid hormone (PTH) is approved for postmenopausal women and men with osteoporosis who are at high risk for having a fracture. Use of the drug for more than 2 years is not recommended. RANK ligand (RANKL) inhibitor. A RANK ligand (RANKL) inhibitor is approved for postmenopausal women with osteoporosis who are at high risk for fracture Estrogen agonists/antagonists. An estrogen agonist/ antagonist (also called a selective estrogen receptor modulator or SERM) is approved for the prevention and treatment of osteoporosis in postmenopausal women. SERMs are not estrogens, but they have estrogen-like effects on some tissues and estrogen-blocking effects on other tissues. Calcitonin. Calcitonin is approved for the treatment of osteoporosis in women who are at least 5 years beyond menopause. Calcitonin is a hormone involved in calcium regulation and bone metabolism. Estrogen and hormone therapy. Estrogen is approved for the treatment of menopausal symptoms and osteoporosis in women after menopause. - Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first. Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first.",NIHSeniorHealth,Osteoporosis +What is (are) Osteoporosis ?,"Millions of Americans are able to lead healthy, productive lives while living with osteoporosis. If you have been feeling symptoms of depressionsuch as loss of appetite, hopelessness, feeling useless and helpless, or having thoughts of suicidefor more than 2 weeks, consult a doctor, social worker, or therapist. Medications and counseling are available to fight depression. Learn more about the emotional impact of osteoporosis. Learn more about older adults and depression. (Watch the video to learn more about coping with osteoporosis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Osteoporosis +What is (are) Kidney Disease ?,"What the Kidneys Do You have two kidneys. They are bean-shaped and about the size of a fist. They are located in the middle of your back, on the left and right of your spine, just below your rib cage. The kidneys filter your blood, removing wastes and extra water to make urine. They also help control blood pressure and make hormones that your body needs to stay healthy. When the kidneys are damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced with aging. As the kidneys age, the number of filtering units in the kidney may decrease, the overall amount of kidney tissue may decrease, and the blood vessels that supply the kidney may harden, causing the kidneys to filter blood more slowly. If your kidneys begin to filter less well as you age, you may be more likely to have complications from certain medicines. There may be an unsafe buildup of medicines that are removed from your blood by your kidneys. Also, your kidneys may be more sensitive to certain medicines. For example, nonsteroidal anti-inflammatory drugs (NSAIDs) and some antibiotics may harm your kidneys in some situations. The next time you pick up a prescription or buy an over-the-counter medicine or supplement, ask your pharmacist how the product may affect your kidneys and interact with your other medicines. (Watch the video to learn more about what the kidneys do. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about how the kidneys work. How Kidney Disease Occurs Kidney disease means the kidneys are damaged and can no longer remove wastes and extra water from the blood as they should. Kidney disease is most often caused by diabetes or high blood pressure. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. The main risk factors for developing kidney disease are - diabetes - high blood pressure - cardiovascular (heart and blood vessel) disease - a family history of kidney failure. diabetes high blood pressure cardiovascular (heart and blood vessel) disease a family history of kidney failure. Each kidney contains about one million tiny filtering units made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. This is called chronic kidney disease. As more and more filtering units are damaged, the kidneys eventually are unable to maintain health. Early kidney disease usually has no symptoms, which means you will not feel different. Blood and urine tests are the only way to check for kidney damage or measure kidney function. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should be tested for kidney disease. Kidney Failure Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means very advanced kidney damage with less than 15% normal function. End-stage renal disease (ESRD) is kidney failure treated by dialysis or kidney transplant. If the kidneys fail, treatment options such as dialysis or a kidney transplant can help replace kidney function. Some patients choose not to treat kidney failure with dialysis or a transplant. If your kidneys fail, talk with your health care provider about choosing a treatment that is right for you. (Watch the video to learn more about how kidney disease progresses. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Kidney Disease +How to prevent Kidney Disease ?,"Risk Factors Diabetes and high blood pressure are the two leading causes of kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. Other risk factors for kidney disease include: - cardiovascular (heart) disease - family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. cardiovascular (heart) disease family history -- if you have a mother, father, sister, or brother who has had kidney failure, then you are at increased risk. Additionally, African Americans, Hispanics, and Native Americans are at high risk for developing kidney failure. This is in part due to high rates of diabetes and high blood pressure in these communities. If you have ANY of these risk factors, talk to your health care provider about getting tested for kidney disease. If you have kidney disease, you may not feel any different. It is very important to get tested if you are at risk. (Watch the video to learn more about reducing your risk for kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Prevention If you are at risk for kidney disease, the most important steps you can take to keep your kidneys healthy are to - get your blood and urine checked for kidney disease. - manage your diabetes, high blood pressure, and heart disease. get your blood and urine checked for kidney disease. manage your diabetes, high blood pressure, and heart disease. Manage your diabetes and high blood pressure, and keep your kidneys healthy by - eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods - cutting back on salt - limiting your alcohol intake - being more physically active - losing weight if you are overweight - taking your medicines the way your provider tells you to - keeping your cholesterol levels in the target range - taking steps to quit, if you smoke - seeing your doctor regularly. eating healthy foods: fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods cutting back on salt limiting your alcohol intake being more physically active losing weight if you are overweight taking your medicines the way your provider tells you to keeping your cholesterol levels in the target range taking steps to quit, if you smoke seeing your doctor regularly. By following these steps and keeping risk factors under control -- especially your blood pressure -- you may be able to delay or even prevent kidney failure. Talk to your health care provider to find out the steps that are right for you. Learn about preventing high blood pressure. Learn about preventing type 2 diabetes.",NIHSeniorHealth,Kidney Disease +What are the symptoms of Kidney Disease ?,"Kidney Disease Kidney disease is often called a ""silent"" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Symptoms of Kidney Failure Kidney failure means that damaged kidneys are filtering less than 15% of the amount of blood filtered by healthy kidneys. If kidney disease progresses to kidney failure, a number of symptoms may occur. Some people experience fatigue, some lose their appetite, and some have leg cramps. These problems are caused by waste products that build up in the blood, a condition known as uremia. Healthy kidneys remove waste products from the blood. When the kidneys stop working, uremia occurs. The kidneys also make hormones and balance the minerals in the blood. When the kidneys stop working, most people develop conditions that affect the blood, bones, nerves, and skin. These problems may include itching, sleep problems, restless legs, weak bones, joint problems, and depression. How Kidney Disease Is Diagnosed Blood and urine tests are the only way to check for kidney damage or measure kidney function. It is important for you to get checked for kidney disease if you have the key risk factors, which are - diabetes - high blood pressure - heart disease - a family history of kidney failure. diabetes high blood pressure heart disease a family history of kidney failure. If you are at risk, ask about your kidneys at your next medical appointment. The sooner you know you have kidney disease, the sooner you can get treatment to help delay or prevent kidney failure. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should get a blood and urine test to check your kidneys. Talk to your provider about how often you should be tested. (Watch the video to learn more about tests for kidney disease.) Blood Test The blood test checks your GFR. GFR stands for glomerular (glow-MAIR-you-lure) filtration rate. GFR is a measure of how much blood your kidneys filter each minute. This shows how well your kidneys are working. GFR is reported as a number. - A GFR of 60 or higher is in the normal range. - A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. - A GFR of 15 or lower may mean kidney failure. A GFR of 60 or higher is in the normal range. A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. A GFR of 15 or lower may mean kidney failure. You can't raise your GFR, but you can try to keep it from going lower. Ask your healthcare provider what you can do to keep your kidneys healthy. Learn more about the GFR test. Urine Test The urine test looks for albumin (al-BYOO-min), a type of protein, in your urine. A healthy kidney does not let albumin pass into the urine. A damaged kidney lets some albumin pass into the urine. This test has several different names. You could be told that you are being screened for ""proteinuria"" or ""albuminuria"" or ""microalbuminuria."" Or you could be told that your ""urine albumin-to-creatinine ratio"" (UACR) is being measured. If you have albumin or protein in your urine, it could mean you have kidney disease. - A urine albumin result below 30 is normal. - A urine albumin result above 30 is not normal and may mean kidney disease. A urine albumin result below 30 is normal. A urine albumin result above 30 is not normal and may mean kidney disease. Learn more about the urine albumin test. Your healthcare provider might do additional tests to be sure.",NIHSeniorHealth,Kidney Disease +What are the treatments for Kidney Disease ?,"Different Treatments for Different Stages There are several types of treatments related to kidney disease. Some are used in earlier stages of kidney disease to protect your kidneys. These medications and lifestyle changes help you maintain kidney function and delay kidney failure. Other treatments, such as dialysis and transplantation, are used to treat kidney failure. These methods help replace kidney function if your own kidneys have stopped working. Treatments for Early Kidney Disease Treatments for early kidney disease include both diet and lifestyle changes and medications. - Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. - If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. - Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. - Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. - If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. - If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. Choose and prepare foods with less salt and sodium. Aim for less than 2,300 milligrams of sodium each day. Eat the right amount of protein. Although it is important to eat enough protein to stay healthy, excess protein makes your kidneys work harder. Eating less protein may help delay progression to kidney failure. Talk to your dietitian or other health care provider about what is the right amount of protein for you. If you have been diagnosed with kidney disease, ask your doctor about seeing a dietitian. A dietitian can teach you how to choose foods that are easier on your kidneys. You will also learn about the nutrients that matter for kidney disease. You can find a dietitian near you through the Academy of Nutrition and Dietetics directory. If you smoke, take steps to quit. Cigarette smoking can make kidney damage worse. Medicines Medicines can also help protect the kidneys. People with kidney disease often take medicines to lower blood pressure, control blood glucose, and lower blood cholesterol. Two types of blood pressure medicines -- angiotensin-converting enzyme (ACE) inhibitors, and angiotensin receptor blockers (ARBs) -- may protect the kidneys and delay kidney failure. These medicines may even protect kidney function in people who don't have high blood pressure. The most important step you can take to treat kidney disease is to control your blood pressure. Many people need two or more medicines to keep their blood pressure at a healthy level. For most people, the blood pressure target is less than 140/90 mm Hg. An ACE inhibitor, ARB, or diuretic (water pill) may help control blood pressure. Your healthcare provider will work with you to choose the right medicines for you. (Watch the video to learn more about medications and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Be Safe With Your Medicines Some older adults with kidney disease may take medicines for other diseases as well. If you have kidney disease, you need to be careful about all the medicines you take. Your kidneys do not filter as well as they did in the past. This can cause an unsafe buildup of medicines in your blood. Some medicines can also harm your kidneys. As kidney disease progresses, your doctor may need to change the dose (or amount) of all medicines that affect the kidney or are removed by the kidney. You may need to take some medicines in smaller amounts or less often. You may also need to stop taking a medicine or switch to a different one. Effects of NSAID Drugs Non-steroidal anti-inflammatory drugs (NSAIDs) can harm your kidneys, especially if you have kidney disease, diabetes, and high blood pressure. NSAIDs include common over-the-counter and prescription medicines for headaches, pain, fever, or colds. Ibuprofen and naproxen are NSAIDs, but NSAIDs are sold under many different brand names. If you have kidney disease, do not use NSAIDs. Ask your pharmacist or health care provider if the medicines you take are safe to use. You also can look for NSAIDs on Drug Facts labels.",NIHSeniorHealth,Kidney Disease +What are the treatments for Kidney Disease ?,"Kidney disease can get worse over time, and may lead to kidney failure. Kidney failure means advanced kidney damage with less than 15% normal function. Most people with kidney failure have symptoms from the build up of waste products and extra water in their body. End-stage renal disease (ESRD) is kidney failure treated by dialysis or kidney transplant. If kidney disease progresses to kidney failure, the goal of treatment changes. Since the kidneys no longer work well enough to maintain health, it is necessary to choose a treatment in order to maintain health. There are two main options for this: dialysis and transplantation. Some patients choose not to treat kidney failure with dialysis or a transplant. Instead, they receive supportive care to treat their symptoms. Before you and your health care team decide on a treatment plan, it is important that you understand how each treatment option is likely to affect how long you will live or how good you will feel. If your kidney disease is progressing, talk with your health care provider about choosing a treatment that is right for you. (Watch the video to learn more about dialysis decisions. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Two Kinds of Dialysis Dialysis is a treatment that takes waste products and extra fluid out of your body. In hemodialysis, your blood passes through a filter outside of your body and the clean blood is returned to your body. In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid with the waste products is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Hemodialysis and peritoneal dialysis do not cure kidney failure. They are treatments that help replace the function of the kidneys and may help you feel better and live longer. But, for some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. If You Are on Dialysis Although patients with kidney failure are now living longer than ever, over the years, kidney disease can cause problems such as - depression - heart disease - bone disease - arthritis - nerve damage - malnutrition. depression heart disease bone disease arthritis nerve damage malnutrition. To stay as healthy as possible for as long as possible while on dialysis, - follow your dietitian's advice, - take your medicines, and - follow healthy lifestyle and diet habits to keep a healthy weight and control blood pressure, blood sugar, and cholesterol. follow your dietitian's advice, take your medicines, and follow healthy lifestyle and diet habits to keep a healthy weight and control blood pressure, blood sugar, and cholesterol. Dialysis can be a special challenge for older adults, especially those who have other diseases or conditions. For example, for hemodialysis, a person must be able to leave home, travel to the dialysis facility, and sit for 4 hours during treatment. Peritoneal dialysis can be done at home, but someone needs to help. Often, older adults need help with some or all of these activities. They and their families need to think about these issues as they choose treatment options and living facilities. Learn more about dialysis. Eating, Diet, and Nutrition on Dialysis For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. The diet should be based on the type of treatment the person is getting. - People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. - In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. - Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. All dialysis centers have a renal dietitian, who helps people with kidney failure make healthy food choices. People who are on dialysis should talk with their clinics renal dietitian. The renal dietitian can help make a meal plan that will help their treatment work well. Kidney Transplantation Some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work the failed kidneys used to do. The donated kidney can come from someone you dont know who has recently died, or from a living person -- usually a family member. But you might also be able to receive a kidney from an unrelated donor, including your spouse or a friend. Due to the shortage of kidneys, patients on the waiting list for a deceased donor kidney may wait many years. (Watch the video to learn more about kidney transplantation.) Kidney transplantation is a treatment for kidney failure -- not a cure. You will need to see your healthcare provider regularly. And you will need to take medicines for as long as you have your transplant. These medicines suppress your immune system so it doesn't reject the transplanted kidney. Eating, Diet, and Nutrition After a Transplant After a transplant, it is still important to make healthy food choices. It is still important to eat foods with less salt. This may help you keep a healthy blood pressure. You should also choose foods that are healthy for your heart, like fresh fruits, fresh or frozen vegetables, whole grains, and low-fat dairy foods. If you were on dialysis before the transplant, you may find that your diet after transplant is much easier to follow. You can drink more fluids and eat many of the fruits and vegetables you had to eat less of while on dialysis. You may even need to gain a little weight, but be careful not to gain weight too quickly. All transplant clinics have a renal dietitian, who helps people with kidney failure make healthy food choices. People who have had a transplant should talk with their clinics renal dietitian. The renal dietitian can help make a meal plan that will help keep the new kidney healthy. Learn more about kidney transplantation. Choosing Not to Treat With Dialysis or Transplant You may choose not to treat kidney failure with dialysis or a transplant. Instead, you may choose to focus on treating its complications. If you choose this path, you will still get care from your health care team. Your care may include - medicines to protect remaining kidney function for as long as possible - medicines to treat symptoms of kidney failure (such as nausea, anemia, and poor appetite) - advice on diet and lifestyle choices, and - care to ease symptoms, provide relief from physical and emotional pain, and enhance quality of life. medicines to protect remaining kidney function for as long as possible medicines to treat symptoms of kidney failure (such as nausea, anemia, and poor appetite) advice on diet and lifestyle choices, and care to ease symptoms, provide relief from physical and emotional pain, and enhance quality of life. You have the right to choose not to start dialysis or undergo transplant surgery. You may choose not to treat with dialysis or transplant if you feel that the burdens would outweigh the benefits. Or, you may make this choice if you feel these treatments would lower your quality of life. Only you know what it is like for you to live with kidney failure. Treatment with no dialysis or transplant may be a choice for you if - you and your doctor feel dialysis or transplant will not improve your health. For some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. - you feel youve accomplished what you wanted in life. - family and friends support your decision. you and your doctor feel dialysis or transplant will not improve your health. For some people who have many health problems and are age 75 or older, studies show that treatment with dialysis may not help. you feel youve accomplished what you wanted in life. family and friends support your decision. Choosing the Right Treatment Not all treatments are right for all people. Talk to your doctor and other health professionals -- including nurses, dietitians, and diabetes educators -- to figure out the best treatment plan for you. The right choice for you depends upon your medical condition, lifestyle, and personal likes and dislikes. Each treatment option may have a different effect on - how long you live - your overall health - what and how much you can do - how well you can get around - how you feel emotionally - how well you can think, learn, and remember - your sex life. how long you live your overall health what and how much you can do how well you can get around how you feel emotionally how well you can think, learn, and remember your sex life.",NIHSeniorHealth,Kidney Disease +what research (or clinical trials) is being done for Kidney Disease ?,"Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including - trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease - trying to find more effective medications to treat kidney disease and its risk factors, and - improving dialysis and the results of kidney transplantation. trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease trying to find more effective medications to treat kidney disease and its risk factors, and improving dialysis and the results of kidney transplantation. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Interaction With Other Diseases Another focus is on the interaction between kidney disease, diabetes, and cardiovascular (heart) disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention. Disease Progression NIDDK is sponsoring a major study -- the Chronic Renal Insufficiency Cohort (CRIC) study -- to learn more about how kidney disease progresses. CRIC is following 6,000 adults with mild to moderate kidney disease. About half have diabetes. It is believed that some CRIC study participants' kidney function will decline more rapidly than others', and that some will develop cardiovascular disease while others won't. The goal of the study is to identify the factors linked to rapid decline of kidney function and the development of cardiovascular disease. The data and specimens collected from study participants will be available to other researchers who are studying kidney disease and cardiovascular disease. The CRIC study will allow future investigation into the role of genetic, environmental, behavioral, nutritional, and other factors in kidney disease. Learn more about the CRIC Study. Improving Transplants In the area of transplantation, researchers are working to develop new drugs that help the body accept donated organs. The goal is to help transplanted kidneys survive longer and work better. NIDDK scientists are also developing new techniques to improve the body's tolerance for foreign tissue even before the donated kidney is transplanted. This could help reduce or eliminate the need for drugs that suppress the immune system, which could reduce transplantation costs and complications. In the future, scientists may even develop an artificial kidney for implantation.",NIHSeniorHealth,Kidney Disease +What is (are) Kidney Disease ?,"Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. (Watch the video to learn more about kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Kidney Disease +What causes Kidney Disease ?,"Kidney disease is most often caused by diabetes or high blood pressure. Each kidney contains about one million tiny filters made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. As more and more filters are damaged, the kidneys eventually stop working.",NIHSeniorHealth,Kidney Disease +Who is at risk for Kidney Disease? ?,"Diabetes and high blood pressure are the two leading risk factors for kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. There are several other risk factors for kidney disease. Cardiovascular (heart) disease is a risk factor. So is family history: if you have a mother, father, sister, or brother who has had kidney disease, then you are at increased risk. African Americans, Hispanics, and Native Americans tend to have a greater risk for kidney failure. This is mostly due to higher rates of diabetes and high blood pressure in these communities, although there may be other reasons. (Watch the video to learn more about the connection between heart disease and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Kidney Disease +What are the symptoms of Kidney Disease ?,"Kidney disease is often called a ""silent"" disease, because most people have no symptoms in early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! Blood and urine tests are the only way to check for kidney damage or measure kidney function. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Kidney Disease +What is (are) Kidney Disease ?,"When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin result? What is my blood pressure? What is my blood glucose (for people with diabetes)?",NIHSeniorHealth,Kidney Disease +What are the treatments for Kidney Disease ?,"Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. (Watch the video to learn more about dialysis decisions. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Kidney Disease +What are the treatments for Kidney Disease ?,"During your next health care visit, talk to your provider about your test results and how to manage your kidney disease. Below is a list of questions you may want to ask. Add any questions you think are missing, and mark those that are most important to you. Bring your list with you. About your tests - Did you check my kidney health with blood and urine tests? - What was my GFR? What does that mean? - Has my GFR changed since last time? - What is my urine albumin level? What does that mean? - Has my urine albumin changed since the last time it was checked? - Is my kidney disease getting worse? - Is my blood pressure where it needs to be? - Will I need dialysis? - When should I talk to my family about dialysis or a kidney transplant? Did you check my kidney health with blood and urine tests? What was my GFR? What does that mean? Has my GFR changed since last time? What is my urine albumin level? What does that mean? Has my urine albumin changed since the last time it was checked? Is my kidney disease getting worse? Is my blood pressure where it needs to be? Will I need dialysis? When should I talk to my family about dialysis or a kidney transplant? (Watch the video to learn more about dialysis decisions. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) About treatment and self-care - What can I do to keep my disease from getting worse? - Do any of my medicines or doses need to be changed? - Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? - Will you refer me to a dietitian for diet counseling? - When will I need to see a nephrologist (kidney specialist)? - What do I need to do to protect my veins? What can I do to keep my disease from getting worse? Do any of my medicines or doses need to be changed? Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? Will you refer me to a dietitian for diet counseling? When will I need to see a nephrologist (kidney specialist)? What do I need to do to protect my veins? (Watch the video to learn more about lifestyle and diet changes to make with kidney disease.) About complications - What other health problems may I face because of my kidney disease? - Should I be looking for any symptoms? If so, what are they? What other health problems may I face because of my kidney disease? Should I be looking for any symptoms? If so, what are they? If you're told that you need renal replacement therapy (dialysis or a transplant) - How do I decide which treatment is right for me? - How do I prepare for dialysis? - What is an AV fistula? - How soon do I begin preparing? - How can my family help me? How do I decide which treatment is right for me? How do I prepare for dialysis? What is an AV fistula? How soon do I begin preparing? How can my family help me?",NIHSeniorHealth,Kidney Disease +What is (are) Kidney Disease ?,"When your kidneys fail, they are no longer able to filter blood and remove waste from your body well enough to maintain health. Kidney failure causes harmful waste and excess fluid to build up in your body. Your blood pressure may rise, and your hands and feet may swell. Since the kidneys are not working well, the goal is to find treatments that can replace kidney function in order to maintain health. There are two main options for this: dialysis and transplantation.",NIHSeniorHealth,Kidney Disease +What are the treatments for Kidney Disease ?,"Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Get more information about dialysis.",NIHSeniorHealth,Kidney Disease +What is (are) Kidney Disease ?,"Instead of dialysis, some people with kidney failure -- including older adults -- may be able to receive a kidney transplant. This involves having a healthy kidney from another person surgically placed into your body. The new, donated kidney does the work that your two failed kidneys used to do. The donated kidney can come from an anonymous donor who has recently died, or from a living person -- usually a relative. But you might also be able to receive a kidney from an unrelated donor, including your spouse or a friend. (Watch the video to learn more about kidney transplantation. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Kidney transplantation is a treatment for kidney failure -- not a cure. You will need to see your healthcare provider regularly. And you will need to take medications for as long as you have your transplant to suppress your immune system so it doesn't reject the transplanted kidney.",NIHSeniorHealth,Kidney Disease +what research (or clinical trials) is being done for Kidney Disease ?,"There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Another focus is on the interaction between diabetes, kidney disease, and cardiovascular disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention.",NIHSeniorHealth,Kidney Disease +What is (are) Alzheimer's Disease ?,"Alzheimers disease is a brain disease that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. It begins slowly and gets worse over time. Currently, it has no cure. A Common Cause of Dementia Alzheimers disease is the most common cause of dementia among older people. Dementia is a loss of thinking, remembering, and reasoning skills that interferes with a persons daily life and activities. Dementia ranges in severity from the mild stage, when it is just beginning to affect a persons functioning, to the severe stage, when the person must depend completely on others for basic care. Estimates vary, but experts suggest that more than 5 million Americans may have Alzheimer's disease. Alzheimers is currently ranked as the sixth leading cause of death in the United States, but recent estimates indicate that the disorder may rank third, just behind heart disease and cancer, as a cause of death for older people Risk Increases With Age In most people with Alzheimers, symptoms first appear in their mid-60s, and the risk of developing the disease increases with age. While younger people -- in their 30s, 40s, and 50s -- may get Alzheimer's disease, it is much less common. It is important to note that Alzheimer's disease is not a normal part of aging. The course of Alzheimers diseasewhich symptoms appear and how quickly changes occurvaries from person to person. The time from diagnosis to death varies, too. It can be as little as 3 or 4 years if the person is over 80 years old when diagnosed or as long as 10 years or more if the person is younger. Memory Problems: One of the First Signs Memory problems are typically one of the first signs of Alzheimers disease, though initial symptoms may vary from person to person. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers disease. People with Alzheimers have trouble doing everyday things like driving a car, cooking a meal, or paying bills. They may ask the same questions over and over, get lost easily, lose things or put them in odd places, and find even simple things confusing. Some people become worried, angry, or violent. Other Reasons for Memory Issues Not all people with memory problems have Alzheimers disease. Mild forgetfulness can be a normal part of aging. Some people may notice that it takes longer to learn new things, remember certain words, or find their glasses. Thats different from a serious memory problem, which makes it hard to do everyday things. Sometimes memory problems are related to health issues that are treatable. For example, medication side effects, vitamin B12 deficiency, head injuries, or liver or kidney disorders can lead to memory loss or possibly dementia. Emotional problems, such as stress, anxiety, or depression, can also make a person more forgetful and may be mistaken for dementia. Read more about causes of memory loss and how to keep your memory sharp. Mild Cognitive Impairment Some older people with memory or other thinking problems have a condition called mild cognitive impairment, or MCI. MCI can be an early sign of Alzheimers, but not everyone with MCI will develop Alzheimers disease. People with MCI have more memory problems than other people their age, but they can still take care of themselves and do their normal activities. Signs of MCI may include - losing things often - forgetting to go to events and appointments - having more trouble coming up with words than other people the same age. losing things often forgetting to go to events and appointments having more trouble coming up with words than other people the same age. If you or someone in your family thinks your forgetfulness is getting in the way of your normal routine, its time to see your doctor. Seeing the doctor when you first start having memory problems can help you find out whats causing your forgetfulness. Learn more about mild cognitive impairment (MCI). What Happens to the Brain in Alzheimers? Alzheimer's disease is named after Dr. Alois Alzheimer, a German doctor. In 1906, Dr. Alzheimer noticed changes in the brain tissue of a woman who had died of an unusual mental illness. After she died, he examined her brain and found many abnormal clumps (now called amyloid plaques) and tangled bundles of fibers (now called neurofibrillary, or tau, tangles). Plaques and tangles in the brain are two of the main features of Alzheimer's disease. Another is the loss of connections between nerve cells (neurons) in the brain. Neurons send messages between different parts of the brain, and from the brain to muscles and organs in the body. It seems likely that damage to the brain starts 10 years or more before memory or other thinking problems become obvious. During the earliest stage of Alzheimers, people are free of symptoms, but harmful changes are taking place in the brain. The damage at first appears to take place in cells of the hippocampus, the part of the brain essential in forming memories. Abnormal protein deposits form plaques and tangles in the brain. Once-healthy nerve cells stop functioning, lose connections with each other, and die. As more nerve cells die, other parts of the brain begin to shrink. By the final stage of Alzheimers, damage is widespread, and brain tissue has shrunk significantly. Get more details about Alzheimers disease.",NIHSeniorHealth,Alzheimer's Disease +What causes Alzheimer's Disease ?,"There are two types of Alzheimers diseaseearly-onset and late-onset. Early-onset Alzheimers is a rare form of the disease that occurs in people age 30 to 60. It occurs in less than 5 percent of all people with Alzheimers. Almost all people with Alzheimers disease have late-onset Alzheimer's, which usually develops after age 60. Causes Not Fully Understood Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, a genetic mutation is usually the cause. Late-onset Alzheimers arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Research shows that Alzheimers disease causes changes in the brain years and even decades before the first symptoms appear, so even people who seem free of the disease today may be at risk. Scientists are developing sophisticated tests to help identify who is most likely to develop symptoms of Alzheimers. Ultimately, they hope to prevent or delay dementia in these high-risk individuals. Risk Factors Some risk factors for Alzheimers, like age and genetics, cannot be controlled. Other factors that may play a role in the development of the diseasesuch as how much a person exercises or socializescan be changed. Lifestyle factors, such as diet and physical exercise, and long-term health conditions, like high blood pressure and diabetes, might also play a role in the risk of developing Alzheimers disease. For more information, see the chapter entitled Prevention. Older AgeThe Biggest Risk Factor Increasing age is the most important known risk factor for Alzheimer's disease. The number of people with the disease doubles every 5 years beyond age 65. Nearly half of people age 85 and older may have Alzheimers. These facts are significant because the number of older adults is growing. Genetics Genetics appears to play a part in both early- and late-onset Alzheimers disease. In early-onset Alzheimers, most cases are caused by specific genetic mutations permanent changes in genes that can be passed on from a parent to a child. This results in early-onset familial Alzheimers disease, or FAD. Most people with Alzheimers disease have late-onset Alzheimer's, in which symptoms appear in a persons mid-60s. No obvious family pattern is seen in most of these cases, but certain genetic factors appear to increase a persons risk. Many studies have linked the apolipoprotein E gene to late-onset Alzheimers. One form of this gene, APOE 4, increases a persons risk of getting the disease. But many people who get Alzheimers do not have the APOE 4 gene, and some people with the gene never get Alzheimers. Scientists have identified a number of other genes in addition to APOE 4 that may increase a persons risk for late-onset Alzheimers. Knowing about these genes can help researchers more effectively test possible treatments and prevention strategies in people who are at risk of developing Alzheimers -- ideally, before symptoms appear. Learn more about the genetics of Alzheimers disease.",NIHSeniorHealth,Alzheimer's Disease +What are the symptoms of Alzheimer's Disease ?,"Alzheimer's disease varies from person to person so not everyone will have the same symptoms. Also, the disease progresses faster in some people than in others. In general, though, Alzheimers takes many years to develop and becomes increasingly severe over time. Memory Problems -- A Common Early Sign Memory problems are typically one of the first signs of Alzheimers disease. However, not all memory problems are caused by Alzheimers. If you or someone in your family thinks your forgetfulness is getting in the way of your normal routine, its time to see your doctor. He or she can find out whats causing these problems. A person in the early (mild) stage of Alzheimers disease may - find it hard to remember things - ask the same questions over and over - get lost in familiar places - lose things or put them in odd places - have trouble handling money and paying bills - take longer than normal to finish daily tasks - have some mood and personality changes. find it hard to remember things ask the same questions over and over get lost in familiar places lose things or put them in odd places have trouble handling money and paying bills take longer than normal to finish daily tasks have some mood and personality changes. Other thinking problems besides memory loss may be the first sign of Alzheimers disease. A person may have - trouble finding the right words - vision and spatial issues - impaired reasoning or judgment. trouble finding the right words vision and spatial issues impaired reasoning or judgment. See a chart that compares signs of Alzheimers disease with signs of normal aging. Later Signs of Alzheimers As Alzheimers disease progresses to the moderate stage, memory loss and confusion grow worse, and people may have problems recognizing family and friends. Other symptoms at this stage may include - difficulty learning new things and coping with new situations - trouble carrying out tasks that involve multiple steps, like getting dressed - impulsive behavior - forgetting the names of common things - hallucinations, delusions, or paranoia - wandering away from home. difficulty learning new things and coping with new situations trouble carrying out tasks that involve multiple steps, like getting dressed impulsive behavior forgetting the names of common things hallucinations, delusions, or paranoia wandering away from home. Symptoms of Severe Alzheimers As Alzheimers disease becomes more severe, people lose the ability to communicate. They may sleep more, lose weight, and have trouble swallowing. Often they are incontinentthey cannot control their bladder and/or bowels. Eventually, they need total care. Benefits of Early Diagnosis An early, accurate diagnosis of Alzheimer's disease helps people and their families plan for the future. It gives them time to discuss care options, find support, and make legal and financial arrangements while the person with Alzheimers can still take part in making decisions. Also, even though no medicine or other treatment can stop or slow the disease, early diagnosis offers the best chance to treat the symptoms. How Alzheimers Is Diagnosed The only definitive way to diagnose Alzheimer's disease is to find out whether plaques and tangles exist in brain tissue. To look at brain tissue, doctors perform a brain autopsy, an examination of the brain done after a person dies. Doctors can only make a diagnosis of ""possible"" or probable Alzheimers disease while a person is alive. Doctors with special training can diagnose Alzheimer's disease correctly up to 90 percent of the time. Doctors who can diagnose Alzheimers include geriatricians, geriatric psychiatrists, and neurologists. A geriatrician specializes in the treatment of older adults. A geriatric psychiatrist specializes in mental problems in older adults. A neurologist specializes in brain and nervous system disorders. To diagnose Alzheimers disease, doctors may - ask questions about overall health, past medical problems, ability to carry out daily activities, and changes in behavior and personality - conduct tests to measure memory, problem solving, attention, counting, and language skills - carry out standard medical tests, such as blood and urine tests - perform brain scans to look for anything in the brain that does not look normal. ask questions about overall health, past medical problems, ability to carry out daily activities, and changes in behavior and personality conduct tests to measure memory, problem solving, attention, counting, and language skills carry out standard medical tests, such as blood and urine tests perform brain scans to look for anything in the brain that does not look normal. Test results can help doctors know if there are other possible causes of the person's symptoms. For example, thyroid problems, drug reactions, depression, brain tumors, head injury, and blood-vessel disease in the brain can cause symptoms similar to those of Alzheimer's. Many of these other conditions can be treated successfully. New Diagnostic Methods Being Studied Researchers are exploring new ways to help doctors diagnose Alzheimers disease earlier and more accurately. Some studies focus on changes in a persons memory, language, and other mental functions. Others look at changes in blood, spinal fluid, and brain-scan results that may detect Alzheimers years before symptoms appear. Watch a video that explains changes in diagnostic guidelines for Alzheimers.",NIHSeniorHealth,Alzheimer's Disease +How to prevent Alzheimer's Disease ?,"Currently, no medicines or other treatments are known to prevent Alzheimers disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. In addition to lifestyle factors, scientists have found clues that some long-term health conditions, like heart disease, high blood pressure, and diabetes, are related to Alzheimer's disease. Its possible that controlling these conditions will reduce the risk of developing Alzheimers. Exercise and Physical Activity Studies show that exercise and other types of physical activity are good for our hearts, waistlines, and ability to carry out everyday activities. Research suggests that exercise may also play a role in reducing risk for Alzheimers disease. Animal studies show that exercise increases both the number of small blood vessels that supply blood to the brain and the number of connections between nerve cells in older rats and mice. In addition, researchers have found that exercise raises the level of a nerve growth factor (a protein key to brain health) in an area of the brain that is important to memory and learning. See suggestions for ways older adults can start or continue to exercise. Diet and Dietary Supplements A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. A diet that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugar can reduce the risk of heart disease and diabetes. Researchers are looking at whether a healthy diet also can help prevent Alzheimers. One study reported that people who ate a Mediterranean diet had a 28 percent lower risk of developing MCI (mild cognitive impairment) and a 48 percent lower risk of progressing from MCI to Alzheimers disease. (MCI often, but not always, leads to Alzheimers dementia.) A Mediterranean diet includes vegetables, legumes, fruits, cereals, fish, olive oil, and low amounts of saturated fats, dairy products, meat, and poultry. For more about healthy eating as you age , see Eating Well As You Get Older. Other research has looked at the effect on brain health of several different vitamins and dietary supplements. One area of research focuses on antioxidants, natural substances that appear to fight damage caused by molecules called free radicals. Other studies are looking at resveratrol, a compound found in red grapes and red wine, as well as vitamins and other substances found in food. Chronic Diseases Age-related diseases and conditionssuch as vascular disease, high blood pressure, heart disease, and diabetesmay increase the risk of Alzheimers. Many studies are looking at whether this risk can be reduced by preventing or controlling these diseases and conditions. For example, one clinical trial is looking at how lowering blood pressure to or below current recommended levels may affect cognitive decline and the development of MCI and Alzheimers disease. Participants are older adults with high systolic (upper number) blood pressure who have a history of heart disease or stroke, or are at risk for those conditions. Diabetes is another disease that has been linked to Alzheimers. Past research suggests that abnormal insulin production contributes to Alzheimers-related brain changes. (Insulin is the hormone involved in diabetes.) Diabetes treatments have been tested in people with Alzheimers, but the results have not been conclusive. Keeping the Brain Active Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. One clinical trial is testing the impact of formal cognitive training, with and without physical exercise, in people with MCI to see if it can prevent or delay Alzheimers disease. Other trials are underway in healthy older adults to see if exercise and/or cognitive training (for example, a demanding video game) can delay or prevent age-related cognitive decline. Find out about things you can do that may keep your brain healthy.",NIHSeniorHealth,Alzheimer's Disease +What are the treatments for Alzheimer's Disease ?,"Medications Can Treat Symptoms There is no known cure for Alzheimer's disease, but there are medicines that can treat symptoms of the disease. Most Alzheimers medicines work best for people in the mild or moderate stages of the disease. For example, they can keep memory loss from getting worse for a time. Other medicines may help behavioral symptoms, such as trouble sleeping or feeling worried or depressed. All of these medicines may have side effects and may not work for everyone. A person with Alzheimer's should be under a doctor's care. He or she may see a primary care doctor or a specialist, such as a neurologist, geriatric psychiatrist, or geriatrician. The doctor can treat the person's physical and behavioral problems, answer questions, and refer the patient and caregiver to other sources of help. Medications for Alzheimers Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild to moderate Alzheimers, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimers, although it also has limited effects. All of these medicines have possible side effects, including nausea, vomiting, diarrhea, and loss of appetite. You should report any unusual symptoms to a doctor right away. It is important to follow a doctor's instructions when taking any medication. Scientists are testing many new drugs and other treatments to see if they can help slow, delay, or prevent Alzheimers disease. Learn how Alzheimers medications work, how to take them, and where to find more information. Managing Behavioral Symptoms Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. Treating these symptoms often makes people with Alzheimers disease more comfortable and makes their care easier for caregivers. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution. Memory Aids Memory aids may help some people who have mild Alzheimers disease with day-to-day living. A calendar, list of daily plans, notes about simple safety measures, and written directions describing how to use common household items can be useful. Help for Caregivers Caring for a person with Alzheimers can have high physical, emotional, and financial costs. The demands of day-to-day care, changing family roles, and difficult decisions about placement in a care facility can be difficult. Sometimes, taking care of the person with Alzheimers makes caregivers feel good because they are providing love and comfort. At other times, it can be overwhelming. Changes in the person can be hard to understand and cope with. Here are some ways for caregivers of people with Alzheimers to get help. - Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break. - Join a caregivers support group. - Use home health care, adult day care, and respite services. Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break. Join a caregivers support group. Use home health care, adult day care, and respite services. For more information about caring for someone with Alzheimers disease, see Alzheimer's Caregiving.",NIHSeniorHealth,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"Research supported by the National Institutes of Health (NIH) and other organizations has expanded knowledge of brain function in healthy older people, identified ways that may lessen age-related cognitive decline, and deepened our understanding of Alzheimers. Many scientists and physicians are working together to untangle the genetic, biological, and environmental factors that might cause Alzheimers disease. This effort is bringing us closer to better managing and, ultimately, better treating and preventing this devastating disease. Types of Research Different types of researchbasic, translational, and clinical researchare conducted to better understand Alzheimers and find ways to treat, delay, or prevent the disease. - Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. - Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. - Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or other intervention in people to see if it is safe and effective. Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or other intervention in people to see if it is safe and effective. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research. Basic Research Basic research seeks to identify the cellular, molecular, and genetic processes that lead to Alzheimers disease. Basic research has focused on two of the main signs of Alzheimers disease in the brain: plaques and tangles. Plaques are made of a protein called beta-amyloid and form abnormal clumps outside nerve cells in the brain. Tangles are made from a protein called tau and form twisted bundles of fibers within nerve cells in the brain. Scientists are studying how plaques and tangles damage nerve cells in the brain. They can see beta-amyloid plaques and tau tangles by making images of the brains of living people. Such imaging has led to clinical trials that are looking at ways to remove beta-amyloid from the human brain or halt its production before more brain damage occurs. Scientists are also exploring the very earliest brain changes in the disease process. Findings will help them better understand the causes of Alzheimers. As they learn more, they are likely to come up with better targets for further research. Over time, this might lead to more effective therapies to delay or prevent the disease. Genetics is another important area of basic research. Discovering more about the role of genes that increase or decrease the risk of developing Alzheimers will help researchers answers questions such as What makes the disease process begin? and Why do some people with memory and other thinking problems develop Alzheimers disease while others do not? Genetics research helps scientists learn how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. This research also helps identify people who are at high risk for developing Alzheimers and can participate in clinical research on new prevention and treatment approaches. Translational Research Translational research allows new knowledge from basic research to be applied to a clinical research setting. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that are approved for testing in humans. Scientists also examine medicines approved to treat other diseases to see they might be effective in people with Alzheimers. The most promising interventions are tested in test-tube and animal studies to make sure they are safe and effective. Currently, a number of different substances are under development that may one day be used to treat or prevent the symptoms of Alzheimers disease and mild cognitive impairment. Clinical Research Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test medicines, therapies, medical devices, or other interventions in people to see if they are safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. NIH, drug companies, and other research organizations are conducting many clinical trials to test possible new treatments that may - improve memory, thinking, and reasoning skills in people with Alzheimers or mild cognitive impairment - relieve the behavior problems of Alzheimers, such as aggression and agitation - delay the progression from mild cognitive impairment (MCI) to Alzheimers - prevent Alzheimers disease. improve memory, thinking, and reasoning skills in people with Alzheimers or mild cognitive impairment relieve the behavior problems of Alzheimers, such as aggression and agitation delay the progression from mild cognitive impairment (MCI) to Alzheimers prevent Alzheimers disease. A wide variety of interventions are being tested in clinical trials. They include experimental drugs as well as non-drug approaches.",NIHSeniorHealth,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"All types of people are needed to volunteer for Alzheimers research. People with Alzheimer's disease or MCI, those with a family history of Alzheimers, and healthy people with no memory problems and no family history of Alzheimers may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging and in Alzheimers. Results of these trials are used to improve prevention and treatment methods. The Alzheimers Disease Education and Referral (ADEAR) Centers clinical trials finder makes it easy for people to find out about studies that are sponsored by the federal government and private companies, universities, and other organizations. It includes studies testing new ways to detect, treat, delay, and prevent Alzheimers disease, other dementias, and MCI. You can search for studies about a certain topic or in a certain geographic area by going to www.nia.nih.gov/alzheimers/clinical-trials. To find out more about Alzheimers clinical trials, talk to your health care provider or contact the ADEAR Center at 1-800-438-4380 or adear@nia.nih.gov. Also, visit its website at www.nia.nih.gov/alzheimers/volunteer.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Alzheimer's Disease ?,"Alzheimers disease is a brain disease that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. It begins slowly and gets worse over time. Currently, it has no cure. Alzheimers disease is the most common cause of dementia in older people. Get more details about Alzheimer's disease.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Alzheimer's Disease ?,"Dementia is a loss of thinking, remembering, and reasoning skills that interferes with a persons daily life and activities. Alzheimers disease is the most common cause of dementia among older people. Dementia ranges in severity from the mild stage, when it is just beginning to affect a persons functioning, to the severe stage, when the person must depend completely on others for care.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Alzheimer's Disease ?,"Mild cognitive impairment, or MCI, is a condition that can be an early sign of Alzheimers diseasebut not everyone with MCI will develop Alzheimers. People with MCI can still take care of themselves and do their normal activities. Signs of MCI may include - losing things often - forgetting to go to events and appointments - having more trouble coming up with words than other people the same age. losing things often forgetting to go to events and appointments having more trouble coming up with words than other people the same age.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Alzheimer's Disease ?,"Memory problems are typically one of the first signs of Alzheimers disease, though different people may have different initial symptoms. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers disease.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Alzheimer's Disease ?,"Alzheimer's disease has three stages: early (also called mild), middle (moderate), and late (severe). A person in the early stage of Alzheimers may - find it hard to remember things - ask the same questions over and over - get lost in familiar places - lose things or put them in odd places - have trouble handling money and paying bills - take longer than normal to finish daily tasks. find it hard to remember things ask the same questions over and over get lost in familiar places lose things or put them in odd places have trouble handling money and paying bills take longer than normal to finish daily tasks. As Alzheimers disease progresses to the middle stage, memory loss and confusion grow worse, and people may have problems recognizing family and friends. Other symptoms are this stage include - difficulty learning new things and coping with new situations - trouble carrying out tasks that involve multiple steps, like getting dressed - impulsive behavior - forgetting the names of common things - hallucinations, delusions, or paranoia - wandering away from home. difficulty learning new things and coping with new situations trouble carrying out tasks that involve multiple steps, like getting dressed impulsive behavior forgetting the names of common things hallucinations, delusions, or paranoia wandering away from home. As Alzheimers disease becomes more severe, people lose the ability to communicate. They may sleep more, lose weight, and have trouble swallowing. Often they are incontinentthey cannot control their bladder and/or bowels. Eventually, they need total care.",NIHSeniorHealth,Alzheimer's Disease +What causes Alzheimer's Disease ?,"Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, which occurs in people between the ages of 30 and 60, a genetic mutation is usually the cause. Late-onset Alzheimers, which usually develops after age 60, arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Learn more about the genetics of Alzheimers disease. Increasing age is the most important known risk factor for Alzheimer's disease. Lifestyle factors, such as diet and physical exercise, and long-term health conditions, like high blood pressure and diabetes, might also play a role in the risk of developing Alzheimers disease.",NIHSeniorHealth,Alzheimer's Disease +How to diagnose Alzheimer's Disease ?,"The only definitive way to diagnose Alzheimer's disease is to find out whether plaques and tangles exist in brain tissue. To look at brain tissue, doctors perform a brain autopsy, an examination of the brain done after a person dies. Doctors can only make a diagnosis of ""possible"" or probable Alzheimers disease while a person is alive. Doctors with special training can diagnose Alzheimer's disease correctly up to 90 percent of the time. Doctors who can diagnose Alzheimers include geriatricians, geriatric psychiatrists, and neurologists. A geriatrician specializes in the treatment of older adults. A geriatric psychiatrist specializes in mental problems in older adults. A neurologist specializes in brain and nervous system disorders. To diagnose Alzheimer's disease, doctors may - ask questions about overall health, past medical problems, ability to carry out daily activities, and changes in behavior and personality - conduct tests to measure memory, problem solving, attention, counting, and language skills - carry out standard medical tests, such as blood and urine tests - perform brain scans to look for anything in the brain that does not look normal. ask questions about overall health, past medical problems, ability to carry out daily activities, and changes in behavior and personality conduct tests to measure memory, problem solving, attention, counting, and language skills carry out standard medical tests, such as blood and urine tests perform brain scans to look for anything in the brain that does not look normal.",NIHSeniorHealth,Alzheimer's Disease +How to diagnose Alzheimer's Disease ?,"An early, accurate diagnosis of Alzheimer's disease helps people and their families plan for the future. It gives them time to discuss care options, find support, and make legal and financial arrangements while the person with Alzheimers can still take part in making decisions. Also, even though no medicine or other treatment can stop or slow the disease, early diagnosis offers the best chance to treat the symptoms.",NIHSeniorHealth,Alzheimer's Disease +How to diagnose Alzheimer's Disease ?,The time from diagnosis of Alzheimers disease to death varies. It can be as little as 3 or 4 years if the person is over 80 years old when diagnosed or as long as 10 years or more if the person is younger.,NIHSeniorHealth,Alzheimer's Disease +What are the treatments for Alzheimer's Disease ?,"Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild or moderate Alzheimer's, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimer's, although it also has limited effects. All of these medicines have possible side effects. Learn how Alzheimers medications work, how to take them, and where to find more information. Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution.",NIHSeniorHealth,Alzheimer's Disease +How to prevent Alzheimer's Disease ?,"Currently, no medicines or treatments are known to prevent Alzheimer's disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. In addition to lifestyle factors, scientists have found clues that some long-term health conditions, like heart disease, high blood pressure, and diabetes, are related to Alzheimer's disease. Its possible that controlling these conditions will reduce the risk of developing Alzheimers.",NIHSeniorHealth,Alzheimer's Disease +How to prevent Alzheimer's Disease ?,"Research suggests that exercise may play a role in reducing risk for Alzheimers disease. Animal studies show that exercise increases both the number of small blood vessels that supply blood to the brain and the number of connections between nerve cells in older rats and mice. In addition, researchers have found that exercise raises the level of a nerve growth factor (a protein key to brain health) in an area of the brain that is important to memory and learning. Learn more about the benefits of exercise for older adults. For more on specific exercises geared to the needs of older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging.",NIHSeniorHealth,Alzheimer's Disease +How to prevent Alzheimer's Disease ?,"A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. For more information about healthy eating as you age, see Eating Well As You Get Older.",NIHSeniorHealth,Alzheimer's Disease +How to prevent Alzheimer's Disease ?,"Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. But we do not know with certainty whether these activities can actually prevent Alzheimers. Find out about things you can do that may keep your brain healthy.",NIHSeniorHealth,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. In Alzheimers disease, basic research seeks to identify the cellular, molecular, and genetic processes that lead to the disease. For example, scientists are studying - the ways in which plaques and tangles damage nerve cells in the brain - the very earliest brain changes in the disease process - the role of Alzheimers risk-factor genes in the development of the disease - how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. the ways in which plaques and tangles damage nerve cells in the brain the very earliest brain changes in the disease process the role of Alzheimers risk-factor genes in the development of the disease how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.",NIHSeniorHealth,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that are approved for testing in humans. Scientists also examine medicines approved to treat other diseases to see they might be effective in people with Alzheimers. The most promising interventions are tested in test-tube and animal studies to make sure they are safe and effective. Currently, a number of different substances are under development that may one day be used to treat the symptoms of Alzheimers disease or mild cognitive impairment. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.",NIHSeniorHealth,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or intervention in people to see if it is safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.",NIHSeniorHealth,Alzheimer's Disease +What are the treatments for Alzheimer's Disease ?,"People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging as well as what happens in Alzheimers. Results of these trials are used to improve prevention and treatment methods. To find out more about Alzheimers clinical trials, talk to your health care provider or contact the Alzheimers Disease Education and Referral (ADEAR) Center at 1-800-438-4380. You can search for studies about a certain topic or in a certain geographic area by going to www.nia.nih.gov/alzheimers/clinical-trials.",NIHSeniorHealth,Alzheimer's Disease +What is (are) Rheumatoid Arthritis ?,"An Inflammatory, Autoimmune Disease Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. Rheumatoid arthritis not only affects the joints, but may also attack tissue in the skin, lungs, eyes, and blood vessels. People with rheumatoid arthritis may feel sick, tired, and sometimes feverish. Rheumatoid arthritis is classified as an autoimmune disease. An autoimmune disease occurs when the immune system turns against parts of the body it is designed to protect. Rheumatoid arthritis generally occurs in a symmetrical pattern. This means that if one knee or hand is involved, the other one is, too. It can occur at any age, but usually begins during a person's most productive years. Affects More Women Than Men Rheumatoid arthritis occurs much more frequently in women than in men. About two to three times as many women as men have the disease. Learn more about how rheumatoid arthritis occurs. Effects Vary Rheumatoid arthritis affects people differently. Some people have mild or moderate forms of the disease, with periods of worsening symptoms, called flares, and periods in which they feel better, called remissions. Others have a severe form of the disease that is active most of the time, lasts for many years or a lifetime, and leads to serious joint damage and disability. Although rheumatoid arthritis is primarily a disease of the joints, its effects are not just physical. Many people with rheumatoid arthritis also experience issues related to - depression, anxiety - feelings of helplessness - low self-esteem. depression, anxiety feelings of helplessness low self-esteem. Rheumatoid arthritis can affect virtually every area of a persons life from work life to family life. It can also interfere with the joys and responsibilities of family life and may affect the decision to have children. Treatment Can Help Fortunately, current treatment strategies allow most people with the disease to lead active and productive lives. These strategies include pain-relieving drugs and medications that slow joint damage, a balance between rest and exercise, and patient education and support programs. In recent years, research has led to a new understanding of rheumatoid arthritis and has increased the likelihood that, in time, researchers will find even better ways to treat the disease.",NIHSeniorHealth,Rheumatoid Arthritis +What causes Rheumatoid Arthritis ?,"Actual Cause Is Unknown Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. Research suggests that a person's genetic makeup is an important part of the picture, but not the whole story. Some evidence shows that infectious agents, such as viruses and bacteria, may trigger rheumatoid arthritis in people with an inherited tendency to develop the disease. However, a specific agent or agents are not yet known. Not Contagious It is important to note that rheumatoid arthritis is not contagious. A person cannot catch it from someone else. Learn more about the causes of rheumatoid arthritis.",NIHSeniorHealth,Rheumatoid Arthritis +What are the symptoms of Rheumatoid Arthritis ?,"Swelling and Pain in the Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. A person also feels sick, tired, and sometimes feverish. Rheumatoid arthritis generally occurs in a symmetrical pattern. If one knee or hand is affected, the other one is also likely to be affected. Diagnostic Tests Rheumatoid arthritis can be difficult to diagnose in its early stages for several reasons. There is no single test for the disease. In addition, symptoms differ from person to person and can be more severe in some people than in others. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body - a test for white blood cell count and - a blood test for anemia. the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count and a blood test for anemia. Diagnosis Can Take Time Symptoms of rheumatoid arthritis can be similar to those of other types of arthritis and joint conditions, and it may take some time to rule out other conditions. The full range of symptoms develops over time, and only a few symptoms may be present in the early stages. Learn more about how rheumatoid arthritis is diagnosed.",NIHSeniorHealth,Rheumatoid Arthritis +What are the treatments for Rheumatoid Arthritis ?,"Most Symptoms Are Treatable Doctors use a variety of approaches to treat rheumatoid arthritis. The goals of treatment are to help relieve pain, reduce swelling, slow down or help prevent joint damage, increase the ability to function, and improve the sense of well-being. Current treatment approaches include - lifestyle modification - medications - surgery - routine monitoring and ongoing care. lifestyle modification medications surgery routine monitoring and ongoing care. Balance Rest and Exercise People with rheumatoid arthritis need a good balance between rest and exercise; they should rest more when the disease is active and exercise more when it is not. Rest helps to reduce active joint inflammation and pain and to fight fatigue. The length of time for rest will vary from person to person, but in general, shorter rest breaks every now and then are more helpful than long times spent in bed. Exercise is important for maintaining healthy and strong muscles, preserving joint mobility, and maintaining flexibility. Exercise can also help people sleep well, reduce pain, maintain a positive attitude, and manage weight. Exercise programs should take into account the persons physical abilities, limitations, and changing needs. Learn more about the health benefits of exercise for older adults. More information about exercise and physical activity for older adults can be found at Go4Life, the exercise and physical activity campaign from the National Institute on Aging. Reduce Stress People with rheumatoid arthritis face emotional challenges as well as physical ones. The emotions they feel because of the diseasefear, anger, and frustrationcombined with any pain and physical limitations can increase their stress level. Finding ways to reduce stress is important. Regular rest periods can help and so can relaxation, distraction, or visualization exercises. Exercise programs, participation in support groups, and good communication with the health care team are other ways to reduce stress. For more information on exercise classes, you may want to contact the Arthritis Foundation at 1-800-283-7800. Learn about relaxation techniques that may relieve tension. Eat a Healthful Diet Special diets, vitamin supplements, and other alternative approaches have been suggested for treating rheumatoid arthritis. Although such approaches may not be harmful, scientific studies have not yet shown any benefits. Special diets, vitamin supplements, and other alternative approaches have been suggested for treating rheumatoid arthritis. Although such approaches may not be harmful, scientific studies have not yet shown any benefits. See Eating Well as You Get Older for more about healthy eating. Reduce Stress on Joints Some people find using a splint for a short time around a painful joint reduces pain and swelling by supporting the joint and letting it rest. Splints are used mostly on wrists and hands, but also on ankles and feet. A doctor or a physical or occupational therapist can help a person choose a splint and make sure it fits properly. Other ways to reduce stress on joints include - self-help devices (for example, zipper pullers, long-handled shoe horns) - devices to help with getting on and off chairs, toilet seats, and beds - changes in the ways that a person carries out daily activities. self-help devices (for example, zipper pullers, long-handled shoe horns) devices to help with getting on and off chairs, toilet seats, and beds changes in the ways that a person carries out daily activities. Medications Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. Still others, called disease-modifying anti-rheumatic drugs or DMARDs, can often slow the course of the disease. - DMARDs include methotrexate, leflunomide, sulfasalazine, and cyclosporine. DMARDs include methotrexate, leflunomide, sulfasalazine, and cyclosporine. - Steroids, which are also called corticosteroids, are another type of drug used to reduce inflammation for people with rheumatoid arthritis. Cortisone, hydrocortisone, and prednisone are some commonly used steroids. Steroids, which are also called corticosteroids, are another type of drug used to reduce inflammation for people with rheumatoid arthritis. Cortisone, hydrocortisone, and prednisone are some commonly used steroids. - DMARDS called biologic response modifiers also can help reduce joint damage. These drugs include etanercept, infliximab, anakinra, golimumab, adalimumab, rituximab, and abatacept. DMARDS called biologic response modifiers also can help reduce joint damage. These drugs include etanercept, infliximab, anakinra, golimumab, adalimumab, rituximab, and abatacept. - Another DMARD, tofacitinib, from a new class of drugs called jak kinase (JAK) inhibitors is also available. Another DMARD, tofacitinib, from a new class of drugs called jak kinase (JAK) inhibitors is also available. Early treatment with powerful drugs and drug combinations -- including biologic response modifiers and DMARDs -- instead of single drugs may help prevent the disease from progressing and greatly reduce joint damage. Surgery In some cases, a doctor will recommend surgery to restore function or relieve pain in a damaged joint. Surgery may also improve a person's ability to perform daily activities. Joint replacement and tendon reconstruction are two types of surgery available to patients with severe joint damage. Routine Monitoring and Ongoing Care Regular medical care is important to monitor the course of the disease, determine the effectiveness and any negative effects of medications, and change therapies as needed. Monitoring typically includes regular visits to the doctor. It also may include blood, urine, and other laboratory tests and x rays. Monitor Osteoporosis Risk People with rheumatoid arthritis may want to discuss preventing osteoporosis with their doctors as part of their long-term, ongoing care. Osteoporosis is a condition in which bones become weakened and fragile. Having rheumatoid arthritis increases the risk of developing osteoporosis for both men and women, particularly if a person takes corticosteroids. Such patients may want to discuss with their doctors the potential benefits of calcium and vitamin D supplements or other treatments for osteoporosis. See What is Osteoporosis? to learn more about this disease.",NIHSeniorHealth,Rheumatoid Arthritis +what research (or clinical trials) is being done for Rheumatoid Arthritis ?,"Scientists are making rapid progress in understanding the complexities of rheumatoid arthritis. They are learning more about how and why it develops and why some people have more severe symptoms than others. Research efforts are focused on developing drugs that can reduce inflammation and slow or stop the disease with few side effects. Identifying Possible Triggers Some evidence shows that infectious agents, such as viruses and bacteria, may contribute to triggering rheumatoid arthritis in people with an inherited tendency to develop the disease. Investigators are trying to identify the infectious agents and understand how they work. This knowledge could lead to new therapies. Why More Women Than Men? Researchers are also exploring why so many more women than men develop rheumatoid arthritis. In the hope of finding clues, they are studying complex relationships between the hormonal, nervous, and immune systems in rheumatoid arthritis. For example, they are exploring whether and how the normal changes in the levels of steroid hormones such as estrogen and testosterone during a person's lifetime may be related to the development, improvement, or flares of the disease. Scientists are also examining why rheumatoid arthritis often improves during pregnancy. Learn more about current research on rheumatoid arthritis. Interested in Clinical Trials? The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at Clinical Trials.gov. To see a list of current clinical trials on rheumatoid arthritis, type ""rheumatoid arthritis"" into the search box.",NIHSeniorHealth,Rheumatoid Arthritis +What is (are) Rheumatoid Arthritis ?,"Rheumatoid arthritis is an inflammatory disease that causes pain, swelling, stiffness, and loss of function in the joints. It can cause mild to severe symptoms. People with rheumatoid arthritis may feel sick, tired, and sometimes feverish. Sometimes rheumatoid arthritis attacks tissue in the skin, lungs, eyes, and blood vessels. The disease generally occurs in a symmetrical pattern. If one knee or hand is involved, usually the other one is, too. It can occur at any age, but often begins between ages 40 and 60. About two to three times as many women as men have rheumatoid arthritis. Learn more about how rheumatoid arthritis occurs.",NIHSeniorHealth,Rheumatoid Arthritis +What causes Rheumatoid Arthritis ?,"Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. Research suggests that a person's genetic makeup is an important part of the picture, but not the whole story. Some evidence shows that infectious agents, such as viruses and bacteria, may trigger rheumatoid arthritis in people with an inherited tendency to develop the disease. The exact agent or agents, however, are not yet known. It is important to note that rheumatoid arthritis is not contagious. A person cannot catch it from someone else. Learn more about the causes of rheumatoid arthritis.",NIHSeniorHealth,Rheumatoid Arthritis +What are the symptoms of Rheumatoid Arthritis ?,"Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. The pain of rheumatoid arthritis varies greatly from person to person, for reasons that doctors do not yet understand completely. Factors that contribute to the pain include swelling within the joint, the amount of heat or redness present, or damage that has occurred within the joint.",NIHSeniorHealth,Rheumatoid Arthritis +How to diagnose Rheumatoid Arthritis ?,"Rheumatoid arthritis can be difficult to diagnose in its early stages because the full range of symptoms develops over time, and only a few symptoms may be present in the early stages. As part of the diagnosis, your doctor will look for symptoms such as swelling, warmth, pain, and limitations in joint motion throughout your body. Your doctor may ask you questions about the intensity of your pain symptoms, how often they occur, and what makes the pain better or worse.",NIHSeniorHealth,Rheumatoid Arthritis +How to diagnose Rheumatoid Arthritis ?,"There is no single, definitive test for rheumatoid arthritis. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body - a test for white blood cell count - a blood test for anemia. the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count a blood test for anemia. X-rays are often used to determine the degree of joint destruction. They are not useful in the early stages of rheumatoid arthritis before bone damage is evident, but they can be used later to monitor the progression of the disease. Learn more about how rheumatoid arthritis is diagnosed.",NIHSeniorHealth,Rheumatoid Arthritis +What are the treatments for Rheumatoid Arthritis ?,"Medication, exercise, and, in some cases, surgery are common treatments for this disease. Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. People with rheumatoid arthritis can also benefit from exercise, but they need to maintain a good balance between rest and exercise. They should get rest when the disease is active and get more exercise when it is not. In some cases, a doctor will recommend surgery to restore function or relieve pain in a damaged joint. Several types of surgery are available to patients with severe joint damage. Joint replacement and tendon reconstruction are examples.",NIHSeniorHealth,Rheumatoid Arthritis +What are the treatments for Rheumatoid Arthritis ?,"Most people who have rheumatoid arthritis take medications. Some drugs only provide relief for pain; others reduce inflammation. Still others, called disease-modifying anti-rheumatic drugs or DMARDs, can often slow the course of the disease. - DMARDs include methotrexate, leflunomide, sulfasalazine, and cyclosporine. - Steroids, which are also called corticosteroids, are another type of drug used to reduce inflammation for people with rheumatoid arthritis. Cortisone, hydrocortisone, and prednisone are some commonly used steroids. - DMARDs called biological response modifiers also can help reduce joint damage. These drugs include etanercept, infliximab, and anakinra. - Another DMARD, tofacitinib, from a new class of drugs called jak kinase (JAK) inhibitors is also available. DMARDs include methotrexate, leflunomide, sulfasalazine, and cyclosporine. Steroids, which are also called corticosteroids, are another type of drug used to reduce inflammation for people with rheumatoid arthritis. Cortisone, hydrocortisone, and prednisone are some commonly used steroids. DMARDs called biological response modifiers also can help reduce joint damage. These drugs include etanercept, infliximab, and anakinra. Another DMARD, tofacitinib, from a new class of drugs called jak kinase (JAK) inhibitors is also available. Early treatment with powerful drugs and drug combinations -- including biological response modifiers and DMARDs -- instead of single drugs may help prevent the disease from progressing and greatly reduce joint damage.",NIHSeniorHealth,Rheumatoid Arthritis +What is (are) Rheumatoid Arthritis ?,"Rest. People with rheumatoid arthritis need a good balance between rest and exercise; they should rest more when the disease is active and exercise more when it is not. Rest helps to reduce active joint inflammation and pain and to fight fatigue. The length of time for rest will vary from person to person, but in general, shorter rest breaks every now and then are more helpful than long times spent in bed. Exercise. Exercise is important for maintaining healthy and strong muscles, preserving joint mobility, and maintaining flexibility. Exercise can help people sleep well, reduce pain, maintain a positive attitude, and manage weight. Exercise programs should take into account the persons physical abilities, limitations, and changing needs. For more information on exercise classes, you may want to contact the Arthritis Foundation at 1-800-283-7800. Learn more about the health benefits of exercise for older adults. More information about exercise and physical activity for older adults can be found at Go4Life, the exercise and and physical activity campaign from the National Institute on Aging. Diet. Special diets, vitamin supplements, and other alternative approaches have been suggested for treating rheumatoid arthritis. Although such approaches may not be harmful, scientific studies have not yet shown any benefits. An overall nutritious diet with the right amount of calories, protein, and calcium is important. Some people need to be careful about drinking alcoholic beverages because of the medications they take for rheumatoid arthritis. See Eating Well as You Get Older to learn more about healthy eating. Joint Care. Some people find that using a splint for a short time around a painful joint reduces pain and swelling by supporting the joint and letting it rest. Assistive devices may help reduce stress and lessen pain in the joints. Examples include zipper pullers and aids to help with moving in and out of chairs and beds. Stress Reduction. Finding ways to reduce stress is important. Regular rest periods can help and so can relaxation, distraction, or visualization exercises. Exercise programs, participation in support groups, and good communication with the health care team are other ways to reduce stress. Learn about relaxation techniques that may relieve tension.",NIHSeniorHealth,Rheumatoid Arthritis +What is (are) Hearing Loss ?,"Hearing loss is a common problem caused by noise, aging, disease, and heredity. Hearing is a complex sense involving both the ear's ability to detect sounds and the brain's ability to interpret those sounds, including the sounds of speech. Factors that determine how much hearing loss will negatively affect a persons quality of life include - the degree of the hearing loss - the pattern of hearing loss across different frequencies (pitches) - whether one or both ears is affected - the areas of the auditory system that are not working normallysuch as the middle ear, inner ear, neural pathways, or brain - the ability to recognize speech sounds - the history of exposures to loud noise and environmental or drug-related toxins that are harmful to hearing - age. the degree of the hearing loss the pattern of hearing loss across different frequencies (pitches) whether one or both ears is affected the areas of the auditory system that are not working normallysuch as the middle ear, inner ear, neural pathways, or brain the ability to recognize speech sounds the history of exposures to loud noise and environmental or drug-related toxins that are harmful to hearing age. A Common Problem in Older Adults Hearing loss is one of the most common conditions affecting older adults. Approximately 17 percent, or 36 million, of American adults report some degree of hearing loss. There is a strong relationship between age and reported hearing loss: 18 percent of American adults 45-64 years old, 30 percent of adults 65-74 years old, and 47 percent of adults 75 years old, or older, have a hearing impairment. Men are more likely to experience hearing loss than women. People with hearing loss may find it hard to have a conversation with friends and family. They may also have trouble understanding a doctor's advice, responding to warnings, and hearing doorbells and alarms. Types of Hearing Loss Hearing loss comes in many forms. It can range from a mild loss in which a person misses certain high-pitched sounds, such as the voices of women and children, to a total loss of hearing. It can be hereditary or it can result from disease, trauma, certain medications, or long-term exposure to loud noises. There are two general categories of hearing loss. - Sensorineural hearing loss occurs when there is damage to the inner ear or the auditory nerve. This type of hearing loss is usually permanent. - Conductive hearing loss occurs when sound waves cannot reach the inner ear. The cause may be earwax build-up, fluid, or a punctured eardrum. Medical treatment or surgery can usually restore conductive hearing loss. Sensorineural hearing loss occurs when there is damage to the inner ear or the auditory nerve. This type of hearing loss is usually permanent. Conductive hearing loss occurs when sound waves cannot reach the inner ear. The cause may be earwax build-up, fluid, or a punctured eardrum. Medical treatment or surgery can usually restore conductive hearing loss. What is Presbycusis? One form of hearing loss, presbycusis, comes on gradually as a person ages. Presbycusis can occur because of changes in the inner ear, auditory nerve, middle ear, or outer ear. Some of its causes are aging, loud noise, heredity, head injury, infection, illness, certain prescription drugs, and circulation problems such as high blood pressure. Presbycusis commonly affects people over 50, many of whom are likely to lose some hearing each year. Having presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. Tinnitus: A Common Symptom Tinnitus, also common in older people, is a ringing, roaring, clicking, hissing, or buzzing sound. It can come and go. It might be heard in one or both ears and be loud or soft. Tinnitus is a symptom, not a disease. It can accompany any type of hearing loss. It can be a side effect of medications. Something as simple as a piece of earwax blocking the ear canal can cause tinnitus, but it can also be the result of a number of health conditions. If you think you have tinnitus, see your primary care doctor. You may be referred to an otolaryngologist -- a surgeon who specializes in ear, nose, and throat diseases -- (commonly called an ear, nose, and throat doctor, or an ENT). The ENT will physically examine your head, neck, and ears and test your hearing to determine the appropriate treatment. Hearing Loss Can Lead to Other Problems Some people may not want to admit they have trouble hearing. Older people who can't hear well may become depressed or may withdraw from others to avoid feeling frustrated or embarrassed about not understanding what is being said. Sometimes older people are mistakenly thought to be confused, unresponsive, or uncooperative just because they don't hear well. Hearing problems that are ignored or untreated can get worse. If you have a hearing problem, you can get help. See your doctor. Hearing aids, special training, certain medicines, and surgery are some of the choices that can help people with hearing problems.",NIHSeniorHealth,Hearing Loss +How to prevent Hearing Loss ?,"Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss if it is not treated. Hearing loss can also result from taking certain medications. ""Ototoxic"" medications damage the inner ear, sometimes permanently. Some antibiotics are ototoxic. Even aspirin at some dosages can cause problems, but they are temporary. Check with your doctor if you notice a problem while taking a medication. Heredity can cause hearing loss, but not all inherited forms of hearing loss take place at birth. Some forms can show up later in life. In otosclerosis, which is thought to be a hereditary disease, an abnormal growth of bone prevents structures within the ear from working properly. A severe blow to the head also can cause hearing loss. Loud Noise Can Cause Hearing Loss One of the most common causes of hearing loss is loud noise. Loud noise can permanently damage the inner ear. Loud noise also contributes to tinnitus, which is a ringing, roaring, clicking, hissing, or buzzing sound in the ears. Approximately 15 percent (26 million) of Americans between the ages of 20 and 69 have high frequency hearing loss due to exposure to loud sounds or noise at work or in leisure activities. Avoiding Noise-Induced Hearing Loss Noise-induced hearing loss is 100 percent preventable. You can protect your hearing by avoiding noises at or above 85 decibels in loudness, which can damage your inner ear. These include gas lawnmowers, snowblowers, motorcycles, firecrackers, and loud music. Lower the volume on personal stereo systems and televisions. When you are involved in a loud activity, wear earplugs or other hearing protective devices. Be sure to protect children's ears too. Although awareness of noise levels is important, you should also be aware of how far away you are from loud noise and how long you are exposed to it. Avoid noises that are too loud (85 decibels and above). Reduce the sound if you can, or wear ear protection if you cannot. Potential damage from noise is caused by the loudness of the sound and the amount of time you are exposed to it. If you experience tinnitus or have trouble hearing after noise exposure, then you have been exposed to too much noise. Other Ways to Prevent Hearing Loss There are other ways to prevent hearing loss. - If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. - If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. - The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. - Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. - If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects. If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects.",NIHSeniorHealth,Hearing Loss +What are the symptoms of Hearing Loss ?,"Don't Ignore Hearing Problems Some people have a hearing problem without realizing it. Others might think they have a problem, but are too embarrassed to tell their doctor, friends, or family. You can help identify a possible hearing problem by asking yourself some key questions and, if necessary, having your hearing checked by a doctor. If a hearing loss is ignored or untreated, it can get worse. But a hearing loss that is identified early can be helped through treatment, such as hearing aids, certain medications, and surgery. Do You Have A Hearing Problem? Ask yourself the following questions. If you answer ""yes"" to three or more of these questions, you could have a hearing problem and may need to have your hearing checked by a doctor. - Do I have a problem hearing on the telephone? - Do I have trouble hearing when there is noise in the background? - Is it hard for me to follow a conversation when two or more people talk at once? - Do I have to strain to understand a conversation? - Do many people I talk to seem to mumble or not speak clearly? - Do I misunderstand what others are saying and respond inappropriately? - Do I often ask people to repeat themselves? - Do I have trouble understanding women and children when they talk? - Do people complain that I turn the TV volume up too high? - Do I hear a ringing, roaring, clicking, buzzing, or hissing sound a lot? - Do some sounds seem too loud? Do I have a problem hearing on the telephone? Do I have trouble hearing when there is noise in the background? Is it hard for me to follow a conversation when two or more people talk at once? Do I have to strain to understand a conversation? Do many people I talk to seem to mumble or not speak clearly? Do I misunderstand what others are saying and respond inappropriately? Do I often ask people to repeat themselves? Do I have trouble understanding women and children when they talk? Do people complain that I turn the TV volume up too high? Do I hear a ringing, roaring, clicking, buzzing, or hissing sound a lot? Do some sounds seem too loud? Sudden sensorineural hearing loss, or sudden deafness, is a rapid loss of hearing. It can happen to a person all at once or over a period of up to 3 days. It should be considered a medical emergency. If you or someone you know experiences sudden sensorineural hearing loss, you should visit a doctor immediately. Who Should I See? The most important thing you can do if you think you have a hearing problem is to seek professional advice. There are several ways to do this. You may start with your primary care physician, an otolaryngologist, an audiologist, or a hearing aid specialist. Each has a different type of training and expertise. Each can be an important part of your hearing health care. An otolaryngologist -- a surgeon who specializes in ear, nose, and throat diseases -- will try to find out why you have a hearing loss and offer treatment options. He or she will ask you for your medical history, ask if other family members have hearing problems, perform a thorough exam, and prescribe any needed tests. An audiologist is a health professional who can identify and measure hearing loss. The audiologist will use a device called an audiometer to test your ability to hear sounds of different loudness and pitch (where the sound falls on the scale, from high to low). The tests that an audiologist performs are painless. Audiologists do not prescribe medications or perform surgery. If you need a hearing aid, some audiologists are licensed to help you choose the right one. A hearing aid specialist (or hearing aid dispenser) is a licensed professional that can check your hearing, fit a hearing aid, counsel and rehabilitate, evaluate treatment for tinnitus, and help with swim molds, ear molds, and noise protectors.",NIHSeniorHealth,Hearing Loss +What are the treatments for Hearing Loss ?,"Your doctor can recommend strategies to help reduce the effects of a hearing loss. Scientists are studying ways to develop new, more effective methods to treat and prevent hearing loss. Hearing Aids A hearing aid is a small electronic device that you wear in or behind your ear. It makes some sounds louder so that a person with hearing loss can listen, communicate, and participate more fully in daily activities. A hearing aid can help people hear more in both quiet and noisy situations. However, only about one out of five people who would benefit from a hearing aid actually uses one. A hearing aid has three basic parts: a microphone, amplifier, and speaker. The hearing aid receives sound through a microphone, which converts the sound waves to electrical signals and sends them to an amplifier. The amplifier increases the power of the signals and then sends them to the ear through a speaker. Types of Hearing Aids There are a number of different types of hearing aids to treat different kinds of hearing loss. Choosing one will depend on the kind of hearing loss you have, you lifestyle, and your own preferences. - Behind-the-ear (BTE) hearing aids consist of a hard plastic case worn behind the ear and connected to a plastic earmold that fits inside the outer ear. The electronic parts are held in the case behind the ear. Sound travels from the hearing aid through the earmold and into the ear. BTE aids are used by people of all ages for mild to profound hearing loss. Behind-the-ear (BTE) hearing aids consist of a hard plastic case worn behind the ear and connected to a plastic earmold that fits inside the outer ear. The electronic parts are held in the case behind the ear. Sound travels from the hearing aid through the earmold and into the ear. BTE aids are used by people of all ages for mild to profound hearing loss. - Open-fit hearing aids fit completely behind the ear with only a narrow tube inserted into the ear canal. This lets the ear canal remain open. Open-fit hearing aids may be a good choice for people with a buildup of earwax since this type of aid is less likely to be damaged by earwax. Some people may prefer the open-fit hearing aid because they do not perceive their voice as sounding plugged up. Open-fit hearing aids fit completely behind the ear with only a narrow tube inserted into the ear canal. This lets the ear canal remain open. Open-fit hearing aids may be a good choice for people with a buildup of earwax since this type of aid is less likely to be damaged by earwax. Some people may prefer the open-fit hearing aid because they do not perceive their voice as sounding plugged up. - In-the-ear hearing aids fit completely inside the outer ear. The case holding the electronic components is made of hard plastic. Some in-the-ear hearing aids may also use a telecoil, which is a small magnetic coil that allows you to receive sound through the circuitry of the hearing aid, rather than through the microphone. You can use the telecoil when you use the telephone and when you are in public places that have installed induction loop systems, such as churches, schools, airports, and auditoriums. In-the-ear hearing aids fit completely inside the outer ear. The case holding the electronic components is made of hard plastic. Some in-the-ear hearing aids may also use a telecoil, which is a small magnetic coil that allows you to receive sound through the circuitry of the hearing aid, rather than through the microphone. You can use the telecoil when you use the telephone and when you are in public places that have installed induction loop systems, such as churches, schools, airports, and auditoriums. - Canal hearing aids fit into the ear canal and are available in two styles. The in-the-canal hearing aid is made to fit the size and shape of your ear canal. A completely-in-canal hearing aid is nearly hidden in the ear canal. Both types are used for mild to moderately severe hearing loss. Because they are small, canal aids may be difficult for a person to adjust and remove. In addition, canal aids have less space available for batteries and additional devices, such as a telecoil. They usually are not recommended for people with severe to profound hearing loss because their reduced size limits their power and volume. Canal hearing aids fit into the ear canal and are available in two styles. The in-the-canal hearing aid is made to fit the size and shape of your ear canal. A completely-in-canal hearing aid is nearly hidden in the ear canal. Both types are used for mild to moderately severe hearing loss. Because they are small, canal aids may be difficult for a person to adjust and remove. In addition, canal aids have less space available for batteries and additional devices, such as a telecoil. They usually are not recommended for people with severe to profound hearing loss because their reduced size limits their power and volume. An audiologist or hearing aid specialist can help you determine if a hearing aid, or even two hearing aids, is the right treatment for you. Wearing two hearing aids may help balance sounds, improve your understanding of words in noisy situations, and make it easier to locate the source of sounds. Cochlear Implants If your hearing loss is severe and of a certain type, your doctor may suggest that you talk to an otolaryngologista surgeon who specializes in ear, nose, and throat diseasesabout a cochlear implant. A cochlear implant is a small electronic device that the surgeon places under the skin and behind the ear. The device picks up sounds, changes them to electrical signals, and sends them past the non-working part of the inner ear and on to the brain. A cochlear implant does not restore or create normal hearing. Instead, it can help people who are deaf or who have a severe hearing loss be more aware of their surroundings and understand speech, sometimes well enough to use the telephone. Learning to interpret sounds from the implant takes time and practice. A speech-language pathologist and audiologist can help you with this part of the process. Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet ""apps,"" and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. TV listening systems help you listen to the television or the radio without being bothered by other noises around you. Some hearing aids can be plugged into televisions or stereos to help you hear better. New and Improved Treatments Under Study Researchers are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that wearers can hear certain sounds more clearly even when a person is surrounded by background noise. They are also studying how to improve cochlear implants to enhance a person's ability to understand sounds. And they are conducting a study on twins aged 50 and over to determine the extent to which age-related hearing loss runs in families.",NIHSeniorHealth,Hearing Loss +How many people are affected by Hearing Loss ?,"Approximately 17 percent, or 36 million, of American adults say that they have some degree of hearing loss. Hearing loss is a common condition in older adults. Roughly one-third of Americans 65 to 74 years of age and 47 percent of those 75 and older have hearing loss.",NIHSeniorHealth,Hearing Loss +What is (are) Hearing Loss ?,"Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearing loss involves damage to the inner ear and is permanent. Tinnitus, also common in older people, is the ringing, roaring, clicking, hissing, or buzzing sound in the ears frequently caused by presbycusis, exposure to loud noise or certain medications. Tinnitus can accompany any type of hearing loss. It also can be a sign of other important health problems, too, such as allergies and problems in the heart and blood vessels. Tinnitus may come and go, or stop altogether.",NIHSeniorHealth,Hearing Loss +What causes Hearing Loss ?,"Hearing loss can result from taking certain medications. ""Ototoxic"" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication.",NIHSeniorHealth,Hearing Loss +How to prevent Hearing Loss ?,"Washing your hands frequently can help prevent upper respiratory infections, which can lead to an ear infection called otitis media. The ear infection otitis media can be a cause of long-term hearing loss. Also, ask your doctor about a yearly flu shot to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious.",NIHSeniorHealth,Hearing Loss +What are the treatments for Hearing Loss ?,"Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet ""apps,"" and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. TV listening systems help you listen to the television or the radio without being bothered by other noises around you. Some hearing aids can be plugged into televisions or stereos to help you hear better. Cochlear Implant If your hearing loss is severe and of a certain type, your doctor may suggest that you talk to an otolaryngologist about a cochlear implant. An otolaryngologist is a surgeon who specializes in ear, nose, and throat diseases. A cochlear implant is a small electronic device that the surgeon places under the skin and behind the ear. The device picks up sounds, changes them to electrical signals, and sends them past the non-working part of the inner ear and on to the brain. Hearing through a cochlear implant sounds different from normal hearing, but it lets many people communicate orally in person and over the telephone, and perceive sounds in the environment.",NIHSeniorHealth,Hearing Loss +How to prevent Hearing Loss ?,"Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. They are also working to to improve cochlear implants and develop diagnostic methods to determine who would benefit from two versus one cochlear implant, especially in young children. Finding ways to improve access to accessible and affordable hearing health care, including screening and assessment, hearing aid selection and fitting, and rehabilitation of hearing loss, is also a goal of currently funded research.",NIHSeniorHealth,Hearing Loss +What is (are) Low Vision ?,"Everyday Tasks Are Challenging Low vision means that even with regular glasses, contact lenses, medicine, or surgery, people find everyday tasks difficult to do. Reading the mail, shopping, cooking, seeing the TV, and writing can seem challenging. Millions of Americans lose some of their vision every year. Irreversible vision loss is most common among people over age 65. (Watch the video to learn more about low vision. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Not a Normal Part of Aging Losing vision is not just part of getting older. Some normal changes occur as we get older. However, these changes usually don't lead to low vision.",NIHSeniorHealth,Low Vision +What causes Low Vision ?,"Eye Diseases and Health Conditions Most people develop low vision because of eye diseases and health conditions like macular degeneration, cataracts, glaucoma, and diabetes. Your eye care professional can tell the difference between normal changes in the aging eye and those caused by eye diseases. Injuries and Birth Defects A few people develop vision loss after eye injuries or from birth defects. Although vision that is lost usually cannot be restored, many people can make the most of the vision they have. How a Scene Looks to People With Normal and Low Vision Scene as viewed by a person with normal vision. Scene as viewed by a person with diabetic retinopathy. Scene as viewed by a person with age-related macular degeneration. Scene as viewed by a person with glaucoma. Scene as viewed by a person with cataracts.",NIHSeniorHealth,Low Vision +What are the symptoms of Low Vision ?,"There are many signs that can signal vision loss. For example, even with your regular glasses, do you have difficulty - recognizing faces of friends and relatives? - doing things that require you to see well up close, such as reading, cooking, sewing, fixing things around the house, or picking out and matching the color of your clothes? - doing things at work or home because lights seem dimmer than they used to? - reading street and bus signs or the names of stores? recognizing faces of friends and relatives? doing things that require you to see well up close, such as reading, cooking, sewing, fixing things around the house, or picking out and matching the color of your clothes? doing things at work or home because lights seem dimmer than they used to? reading street and bus signs or the names of stores? Early Diagnosis Is Important Vision changes like these could be early warning signs of eye disease. People over age 60 should have an eye exam through dilated pupils at least once a year. Usually, the earlier your problem is diagnosed, the better your chances of undergoing successful treatment and keeping your remaining vision. Regular dilated eye exams should be part of your routine health care. However, if you think your vision has recently changed, you should see your eye care professional as soon as possible.",NIHSeniorHealth,Low Vision +What is (are) Low Vision ?,"Low vision is a visual impairment, not correctable by standard glasses, contact lenses, medicine, or surgery, that interferes with a person's ability to perform everyday activities. (Watch the video to learn more about low vision. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Low Vision +What causes Low Vision ?,"Low vision can result from a variety of diseases, disorders, and injuries that affect the eye. Many people with low vision have age-related macular degeneration, cataracts, glaucoma, or diabetic retinopathy. Age-related macular degeneration accounts for almost 45 percent of all cases of low vision.",NIHSeniorHealth,Low Vision +Who is at risk for Low Vision? ?,"People age 60 and older, as well as African Americans and Hispanics over age 45, are at higher risk. African Americans and Hispanics are at higher risk for low vision because they are at higher risk for developing diabetes and diabetic retinopathy, and African Americans are at a higher risk for developing glaucoma.",NIHSeniorHealth,Low Vision +What is (are) Low Vision ?,"Many agencies and organizations in the community provide assistance and information to people who have low vision and to their families and caregivers. State agencies for the blind and visually impaired can make referrals to a variety of organizations that provide assistance. Such services include vision rehabilitation, recreation, counseling, and job training or placement. For assistance in finding agencies and organizations, contact: National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 Phone: 301-496-5248 E-mail: 2020@nei.nih.gov Website: http://www.nei.nih.gov/",NIHSeniorHealth,Low Vision +What is (are) COPD ?,"Chronic obstructive pulmonary disease, or COPD, is a progressive lung disease in which the airways of the lungs become damaged, making it hard to breathe. You may also have heard COPD called other names, like emphysema or chronic bronchitis. In people who have COPD, the airways that carry air in and out of the lungs are partially blocked, making it difficult to get air in and out. COPD is a major cause of death and illness throughout the world. It kills more than 120,000 Americans each year. That's one death every 4 minutes. How COPD Affects Airways The ""airways"" are the tubes that carry air in and out of the lungs through the nose and mouth. The airways of the lungs branch out like an upside-down tree. At the end of each branch are many small, balloon-like air sacs. In healthy people, the airways and air sacs are elastic (stretchy). When you breathe in, each air sac fills up with air, like a small balloon, and when you breathe out, the balloon deflates and the air goes out. In people with COPD, the airways and air sacs lose their shape and become floppy. Less air gets in and less air goes out of the airways because - The airways and air sacs lose their elasticity like an old rubber band. - The walls between many of the air sacs are destroyed. - The walls of the airways become thick and inflamed or swollen. - Cells in the airways make more mucus or sputum than usual, which tends to clog the airways. The airways and air sacs lose their elasticity like an old rubber band. The walls between many of the air sacs are destroyed. The walls of the airways become thick and inflamed or swollen. Cells in the airways make more mucus or sputum than usual, which tends to clog the airways. COPD Develops Slowly, Has No Cure When COPD is severe, shortness of breath and other symptoms of COPD can get in the way of even the most basic tasks, such as doing light housework, taking a walk, even washing and dressing. COPD develops slowly, and it may be many years before you notice symptoms like feeling short of breath. Most of the time, COPD is diagnosed in middle-aged or older people. There is no cure for COPD. The damage to your airways and lungs cannot be reversed, but there are things you can do to control the disabling effects of the disease. COPD is not contagious. You cannot catch it from someone else.",NIHSeniorHealth,COPD +What causes COPD ?,"Smoking Most cases of COPD develop over time, from breathing in fumes and other things that irritate the lungs. Some of the things that put you at risk for COPD include smoking, environmental exposure, and genetic factors. Cigarette smoking is the most common cause of COPD in the United States (either current or former smokers). Pipe, cigar, and other types of tobacco smoking can also cause COPD, especially if the smoke is inhaled. Environmental Exposure COPD can also occur in people who have had long-term exposure to things that can irritate your lungs, like chemical fumes, or dust from the environment or workplace. Heavy or long-term exposure to secondhand smoke or other air pollutants may also contribute to COPD even if you have never smoked or had long-term exposure to harmful pollutants. Secondhand smoke is smoke in the air from other people smoking. Genetic Factors In a small number of people, COPD is caused by a genetic condition known as alpha-1 antitrypsin, or AAT, deficiency. People who have this condition have low levels of alpha-1 antitrypsin (AAT)a protein made in the liver. Having a low level of the AAT protein can lead to lung damage and COPD if you're exposed to smoke or other lung irritants. If you have this condition and smoke, COPD can worsen very quickly. While very few people know if they have AAT deficiency, it is estimated that about 1 in every 1,600 people to about 1 in every 5,000 people have it. People with AAT deficiency can get COPD even if they have never smoked or had long-term exposure to harmful pollutants. Asthma Although uncommon, some people who have asthma can develop COPD. Asthma is a chronic (long-term) lung disease that inflames and narrows the airways. Treatment usually can reverse the inflammation and narrowing. However, if not, COPD can develop.",NIHSeniorHealth,COPD +How to prevent COPD ?,"If you have COPD, you can take these steps to prevent complications and control the disabling effects of the disease. - Quit smoking. - Avoid exposure to pollutants and lung irritants. - Take precautions against the flu. - Talk to your doctor about the flu and pneumonia vaccines. - See your doctor on a regular basis. - Follow your treatments for COPD exactly as your doctor prescribes. Quit smoking. Avoid exposure to pollutants and lung irritants. Take precautions against the flu. Talk to your doctor about the flu and pneumonia vaccines. See your doctor on a regular basis. Follow your treatments for COPD exactly as your doctor prescribes. Quit Smoking If you smoke, the most important thing you can do to prevent more lung damage is to stop smoking. Quitting can help prevent complications and slow the progress of the disease. It is also important to stay away from people who smoke and places where you know there will be smokers. To help you quit, there are many online resources and several new aids available from your doctor or health care provider. The National Cancer Institute (NCI) has information on smoking cessation. Visit SmokeFree.gov , or check out NCI's Clear Horizons, a quit smoking guide for people 50+. You can also visit The American Lung Association, or call 1-800-QUIT NOW (1-800-784-8669). Avoid Exposure to Pollutants and Lung Irritants Try to stay away from other things that could irritate your lungs, like dust and strong fumes. Stay indoors when the outside air quality is poor. You should also stay away from places where there might be cigarette smoke. Take Precautions Against the Flu The flu (influenza) can cause serious problems for people who have COPD. Do your best to avoid crowds during flu season. In addition to avoiding people with the flu, remembering to wash and sanitize your hands can be one of the best ways to guard against getting sick. Talk to Your Doctor About the Flu (influenza) and Pneumonia Vaccines Talk with your doctor about getting a yearly flu shot and whether and when you should get the pneumonia vaccine. Flu shots can reduce your risk of getting the flu, and the pneumonia vaccine lowers your risk for pneumococcal pneumonia (NU-mo-KOK-al nu-MO-ne-ah) and its complications. Both of these illnesses are major health risks for people who have COPD. See Your Doctor Regularly See your doctor or health care provider regularly even if you are feeling fine. Make a list of your breathing symptoms and think about any activities that you can no longer do because of shortness of breath. Be sure to bring a list of all the medicines you are taking to each office visit. Follow Your Treatments Follow your treatments for COPD exactly as your doctor prescribes. They can help you breathe easier, stay more active, and avoid or manage severe symptoms.",NIHSeniorHealth,COPD +What are the symptoms of COPD ?,"Common Symptoms The most common symptoms of COPD are - a cough that does not go away - coughing up lots of sputum (mucus). a cough that does not go away coughing up lots of sputum (mucus). These symptoms often start years before the flow of air in and out of the lungs is reduced. Not everyone who has a cough and sputum goes on to develop COPD. Other common symptoms of COPD include - shortness of breath while doing activities you used to be able to do - wheezing (a whistling sound when you breathe) - tightness in the chest. shortness of breath while doing activities you used to be able to do wheezing (a whistling sound when you breathe) tightness in the chest. Getting a Diagnosis Your doctor will diagnose COPD based on your signs and symptoms, your medical and family histories, and test results. If your doctor thinks you may have COPD, he or she will examine you, listen to your lungs, and ask you questions about your medical history, and what lung irritants you may have been around for long periods of time. The Spirometry Test To confirm a diagnosis of COPD, your doctor will use a breathing test called spirometry. The test is easy and painless and shows how much air you can breathe out and measures how fast you can breathe it out. In a spirometry test, you breathe hard into a large hose connected to a machine called a spirometer. When you breathe out, the spirometer measures how much air your lungs can hold and how fast you can blow air out of your lungs. Spirometry can detect COPD before symptoms develop. Your doctor also might use the test results to find out how severe your COPD is and to help set your treatment goals. The test results also may help find out whether another condition, such as asthma or heart failure, is causing your symptoms. Determining COPD Severity Based on this test, your doctor can determine if you have COPD and how severe it is. There are four levels of severity for COPD: - people at risk for COPD - people with mild COPD - people with moderate COPD - people with severe COPD. people at risk for COPD people with mild COPD people with moderate COPD people with severe COPD. People at risk for developing COPD have a normal breathing test and mild symptoms such as chronic cough and sputum (mucus) production. People with mild COPD have mild breathing limitation. Symptoms may include a chronic cough and sputum (mucus) production. At this stage, you may not be aware that airflow in your lungs is reduced. People with moderate COPD have a breathing test that shows worsening airflow blockages. Symptoms may be worse than with mild COPD and you may experience shortness of breath while working hard, walking fast, or doing brisk activity. At this stage, you would seek medical attention. People with severe COPD have a breathing test that shows severe limitation of the airflow. People with severe COPD will be short of breath after just a little activity. In very severe COPD, complications like respiratory failure or signs of heart failure may develop. At this stage, quality of life is impaired and worsening symptoms may be life-threatening. Other Tests Other tests are used to rule out other causes of the symptoms. - Bronchodilator reversibility testing uses the spirometer and medications called bronchodilators to assess whether breathing problems may be caused by asthma. Bronchodilator reversibility testing uses the spirometer and medications called bronchodilators to assess whether breathing problems may be caused by asthma. - A chest X-ray or a chest CT scan may also be ordered by your doctor. These tests create pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show signs of COPD. They also may show whether another condition, such as heart failure, is causing your symptoms. A chest X-ray or a chest CT scan may also be ordered by your doctor. These tests create pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show signs of COPD. They also may show whether another condition, such as heart failure, is causing your symptoms. - An arterial blood gas test is another test that is used. This blood test shows the oxygen level in the blood to see how severe your COPD is and whether you need oxygen therapy. An arterial blood gas test is another test that is used. This blood test shows the oxygen level in the blood to see how severe your COPD is and whether you need oxygen therapy.",NIHSeniorHealth,COPD +What is (are) COPD ?,"Chronic obstructive pulmonary disease, or COPD, is a progressive lung disease in which the airways of the lungs become damaged, making it harder to breathe. With COPD, airways become blocked, making it harder to get air in and out.",NIHSeniorHealth,COPD +What causes COPD ?,"COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to the body's organs and tissues, or when a complication, such as a severe infection, occurs. Treatment for COPD may help prevent complications, prolong life, and improve a person's quality of life.",NIHSeniorHealth,COPD +What causes COPD ?,"Cigarette smoking is the most common cause of COPD. Most people with COPD are smokers or have been smokers in the past. Breathing in other fumes and dusts over long periods of time can also lead to COPD. Pipe, cigar, and other types of tobacco smoking can cause COPD, especially if the smoke is inhaled. Exposure to secondhand smoke can play a role in causing COPD. Most people with COPD are at least 40 years old or around middle age when symptoms start.",NIHSeniorHealth,COPD +What are the symptoms of COPD ?,"The most common symptoms of COPD are a cough that does not go away and coughing up a lot of sputum (mucus). These symptoms may occur years before lung damage has reduced the flow of air in and out of the lungs. Other symptoms of COPD include shortness of breath, especially with exercise; wheezing (a whistling sound when you breathe); and tightness in the chest.",NIHSeniorHealth,COPD +How to diagnose COPD ?,"To confirm a COPD diagnosis, a doctor will use a breathing test called spirometry. The test is easy and painless. It shows how well the lungs are working. The spirometer measures how much air the lungs can hold and how fast air is blown out of the lungs. Other tests, such as bronchodilator reversibility testing, a chest X-ray, and arterial blood gas test, may be ordered.",NIHSeniorHealth,COPD +What are the treatments for COPD ?,"Treatment for COPD can be different for each person and is based on whether symptoms are mild, moderate or severe. Treatments include medication, pulmonary or lung rehabilitation, oxygen treatment, and surgery. There are also treatments to manage complications or a sudden onset of symptoms.",NIHSeniorHealth,COPD +How to diagnose COPD ?,"If you have not been exercising regularly, you should get the advice of your doctor before starting. The symptoms of COPD are different for each person. People with mild COPD may not have much difficulty walking or exercising. As the symptoms of COPD get worse over time, a person may have more difficulty with walking and exercising. You should talk to your doctor about exercising and whether you would benefit from a pulmonary or lung rehabilitation program.",NIHSeniorHealth,COPD +How to prevent COPD ?,"If you smoke, the most important thing you can do to prevent more lung damage is to stop smoking. It is also important to stay away from people who smoke and places where you know there will be smokers. Avoid exposure to pollutants like dust, fumes, and poor air quality, and take precautions to prevent flu and pneumonia. Following your doctor's instructions with medications and rehabilitative treatment can help alleviate COPD symptoms and control the disabling effects of the disease.",NIHSeniorHealth,COPD +What are the treatments for COPD ?,"Bronchodilators and inhaled steroids are two medications used to treat COPD. Bronchodilators work by relaxing the muscles around the airways, opening them and making it easier to breathe. People with mild COPD take bronchodilators using an inhaler only when needed. Those with moderate or severe COPD may need more regular treatment. Inhaled steroids also are used for people with moderate or severe COPD in order to reduce swelling in the airways.",NIHSeniorHealth,COPD +What are the symptoms of COPD ?,"Call your doctor right away if your symptoms worsen suddenly. People with COPD may have symptoms that suddenly get worse. When this happens, you have a much harder time catching your breath. Symptoms that worsen suddenly can include sudden chest tightness, more coughing, a change in your sputum (mucus), or fever. Your doctor will look at things that may be causing these sudden symptoms. Sometimes the symptoms are caused by a lung infection.",NIHSeniorHealth,COPD +What is (are) COPD ?,"More information on COPD is available at: What is COPD? and at the Learn More, Breathe Better Campaign For information on quitting smoking, visit http://www.surgeongeneral.gov/tobacco/ or Smokefree.gov. For information on the H1N1 flu and COPD, go to The Centers for Disease Control and Prevention.",NIHSeniorHealth,COPD +What is (are) Age-related Macular Degeneration ?,"Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD causes no pain. How AMD Progresses In some cases, AMD advances so slowly that people notice little change in their vision. In others, the disease progresses faster and may lead to a loss of vision in both eyes. AMD is a common eye condition among people age 50 and older. It is a leading cause of vision loss in older adults. Two Forms of AMD There are two forms of age-related macular degeneration -- dry and wet.",NIHSeniorHealth,Age-related Macular Degeneration +Who is at risk for Age-related Macular Degeneration? ?,"Risk Increases With Age AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other Risk Factors Other risk factors include - Smoking - Obesity - Race. Whites are much more likely to lose vision from AMD than African-Americans. - Family history. People with a family history of AMD are at higher risk of getting the disease. - Gender. Women appear to be at greater risk than men. Smoking Obesity Race. Whites are much more likely to lose vision from AMD than African-Americans. Family history. People with a family history of AMD are at higher risk of getting the disease. Gender. Women appear to be at greater risk than men.",NIHSeniorHealth,Age-related Macular Degeneration +What are the symptoms of Age-related Macular Degeneration ?,"AMD is detected during a comprehensive eye exam that includes a visual acuity test, a dilated eye exam, and tonometry. Tests for AMD - The visual acuity test is an eye chart test that measures how well you see at various distances. - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Then, your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of AMD and other eye problems. After the exam, your close-up vision may remain blurred for several hours. - With tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. The visual acuity test is an eye chart test that measures how well you see at various distances. In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Then, your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of AMD and other eye problems. After the exam, your close-up vision may remain blurred for several hours. With tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. Your eye care professional also may do other tests to learn more about the structure and health of your eye. The Amsler Grid During an eye exam, you may be asked to look at an Amsler grid, shown here. You will cover one eye and stare at a black dot in the center of the grid. While staring at the dot, you may notice that the straight lines in the pattern appear wavy. You may notice that some of the lines are missing. These may be signs of AMD. Because dry AMD can turn into wet AMD at any time, you should get an Amsler grid from your eye care professional. You could then use the grid every day to evaluate your vision for signs of wet AMD. The Fluorescein Angiogram Test If your eye care professional believes you need treatment for wet AMD, he or she may suggest a fluorescein angiogram. In this test, a special dye is injected into your arm. Pictures are taken as the dye passes through the blood vessels in your eye. The test allows your eye care professional to identify any leaking blood vessels and recommend treatment.",NIHSeniorHealth,Age-related Macular Degeneration +What are the treatments for Age-related Macular Degeneration ?,"If You Have Advanced AMD Once dry AMD reaches the advanced stage, no form of treatment can prevent vision loss. However, treatment can delay and possibly prevent intermediate AMD from progressing to the advanced stage. The National Eye Institute's Age-Related Eye Disease Study found that taking certain vitamins and minerals may reduce the risk of developing advanced AMD. Wet AMD can be treated with laser surgery, photodynamic therapy, and injections into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment. Laser Surgery Laser surgery uses a laser to destroy the fragile, leaky blood vessels. Only a small percentage of people with wet AMD can be treated with laser surgery. Laser surgery is performed in a doctor's office or eye clinic. The risk of new blood vessels developing after laser treatment is high. Repeated treatments may be necessary. In some cases, vision loss may progress despite repeated treatments. Photodynamic Therapy With photodynamic therapy, a drug called verteporfin is injected into your arm. It travels throughout the body, including the new blood vessels in your eye. The drug tends to stick to the surface of new blood vessels. Next, the doctor shines a light into your eye for about 90 seconds. The light activates the drug. The activated drug destroys the new blood vessels and leads to a slower rate of vision decline. Unlike laser surgery, verteporfin does not destroy surrounding healthy tissue. Because the drug is activated by light, you must avoid exposing your skin or eyes to direct sunlight or bright indoor light for five days after treatment. Photodynamic therapy is relatively painless. It takes about 20 minutes and can be performed in a doctor's office. Photodynamic therapy slows the rate of vision loss. It does not stop vision loss or restore vision in eyes already damaged by advanced AMD. Treatment results often are temporary. You may need to be treated again. Drug Treatment for Wet AMD Wet AMD can now be treated with new drugs that are injected into the eye (anti-VEGF therapy). Abnormally high levels of a specific growth factor occur in eyes with wet AMD and promote the growth of abnormal new blood vessels. This drug treatment blocks the effects of the growth factor. You will need multiple injections that may be given as often as monthly. The eye is numbed before each injection. After the injection, you will remain in the doctor's office for a while and your eye will be monitored. This drug treatment can help slow down vision loss from AMD and in some cases improve sight. If You Have Low Vision If you have lost some sight from AMD, ask your eye care professional about low vision services and devices that may help you make the most of your remaining vision. Many community organizations and agencies offer information about low vision counseling and training and other special services for people with visual impairments. Research on AMD The National Eye Institute is conducting and supporting a number of studies to learn more about AMD. For example, scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD studying the possibility of transplanting healthy cells into a diseased retina evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease looking at certain anti-inflammatory treatments for the wet form of AMD This research should provide better ways to detect, treat, and prevent vision loss in people with AMD.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"Age-related macular degeneration, or AMD, is a disease that blurs the sharp, central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. AMD causes no pain.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"Wet AMD occurs when abnormal blood vessels behind the retina start to grow under the macula. With wet AMD, loss of central vision can occur quickly. Wet AMD is considered to be advanced AMD and is more severe than the dry form.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"Dry AMD occurs when the light-sensitive cells in the macula slowly break down, gradually blurring central vision in the affected eye. As dry AMD gets worse, you may see a blurred spot in the center of your vision. Over time, as less of the macula functions, central vision in the affected eye can be lost. If you have vision loss from dry AMD in one eye only, you may not notice any changes in your overall vision. With the other eye seeing clearly, you can still drive, read, and see fine details. You may notice changes in your vision only if AMD affects both eyes. If you experience blurry vision, see an eye care professional for a comprehensive dilated eye exam.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"Dry AMD has three stages -- early AMD, intermediate AMD, and advanced dry AMD. All of these may occur in one or both eyes. People with early dry AMD have either several small drusen or a few medium-sized drusen. Drusen are yellow deposits under the retina which often are found in people over age 50. People with early AMD have no symptoms and no vision loss. People with intermediate dry AMD have either many medium-sized drusen or one or more large drusen. Some people see a blurred spot in the center of their vision. More light may be needed for reading and other tasks. In addition to drusen, people with advanced dry AMD have a breakdown of light-sensitive cells and supporting tissue in the macula. This breakdown can cause a blurred spot in the center of your vision. Over time, the blurred spot may get bigger and darker, taking more of your central vision. You may have difficulty reading or recognizing faces until they are very close to you.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,Drusen are yellow deposits under the retina. They often are found in people over age 50. Your eye care professional can detect drusen during a comprehensive dilated eye exam.,NIHSeniorHealth,Age-related Macular Degeneration +What causes Age-related Macular Degeneration ?,"Drusen alone do not usually cause vision loss. In fact, scientists are unclear about the connection between drusen and AMD. They do know that an increase in the size or number of drusen raises a person's risk of developing either advanced dry AMD or wet AMD. These changes can cause serious vision loss.",NIHSeniorHealth,Age-related Macular Degeneration +What are the symptoms of Age-related Macular Degeneration ?,"An early symptom of wet AMD is that straight lines appear wavy. If you notice this condition or other changes to your vision, contact your eye care professional at once. You need a comprehensive dilated eye exam.",NIHSeniorHealth,Age-related Macular Degeneration +What are the symptoms of Age-related Macular Degeneration ?,"The most common symptom of dry AMD is slightly blurred vision. You may have difficulty recognizing faces. You may need more light for reading and other tasks. Dry AMD generally affects both eyes, but vision can be lost in one eye while the other eye seems unaffected. One of the most common early signs of dry AMD is drusen. Drusen are yellow deposits under the retina. They often are found in people over age 50. Your eye care professional can detect drusen during a comprehensive dilated eye exam.",NIHSeniorHealth,Age-related Macular Degeneration +Who is at risk for Age-related Macular Degeneration? ?,"AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other risk factors include smoking, obesity, white race, family history of AMD, and female gender.",NIHSeniorHealth,Age-related Macular Degeneration +What are the treatments for Age-related Macular Degeneration ?,"Once dry AMD reaches the advanced stage, no form of treatment can prevent vision loss. However, treatment can delay and possibly prevent intermediate AMD from progressing to the advanced stage, in which vision loss occurs.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"The AREDS formulation is a combination of antioxidants and zinc that is named for a study conducted by The National Eye Institute called the Age-Related Eye Disease Study, or AREDS. This study found that taking a specific high-dose formulation of antioxidants and zinc significantly reduced the risk of advanced AMD and its associated vision loss. Slowing AMD's progression from the intermediate stage to the advanced stage will save many people's vision.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"The daily amounts used by the study researchers were 500 milligrams of vitamin C, 400 International Units of vitamin E, 15 milligrams of beta-carotene, 80 milligrams of zinc as zinc oxide, and 2 milligrams of copper as cupric oxide. Copper was added to the AREDS formulation containing zinc to prevent copper deficiency anemia, a condition associated with high levels of zinc intake.",NIHSeniorHealth,Age-related Macular Degeneration +How to prevent Age-related Macular Degeneration ?,"There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. If early stage AMD progresses to the intermediate stage, discuss taking the formulation with your doctor.",NIHSeniorHealth,Age-related Macular Degeneration +What are the treatments for Age-related Macular Degeneration ?,"Wet AMD can be treated with laser surgery, photodynamic therapy, and drugs that are injected into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment.",NIHSeniorHealth,Age-related Macular Degeneration +what research (or clinical trials) is being done for Age-related Macular Degeneration ?,"The National Eye Institute scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD. studying the possibility of transplanting healthy cells into a diseased retina evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease looking at certain anti-inflammatory treatments for the wet form of AMD. This research should provide better ways to detect, treat, and prevent vision loss in people with AMD.",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Age-related Macular Degeneration ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov Association for Macular Diseases 210 East 64th Street, 8th Floor New York, NY 10021-7471 212-605-3719 Foundation Fighting Blindness Executive Plaza 1, Suite 800 11435 Cronhill Drive Owings Mill, MD 21117-2220 1-888-394-3937 410-785-1414 Macular Degeneration Partnership 6222 Wilshire Boulevard, Suite 260 Los Angeles, CA 90048 1-888-430-9898 310-623-4466 www.amd.org",NIHSeniorHealth,Age-related Macular Degeneration +What is (are) Diabetic Retinopathy ?,"Can Cause Vision Loss, Blindness Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina in the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. But over time, diabetic retinopathy can get worse and cause vision loss. Diabetic retinopathy usually affects both eyes. Four Stages The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy. mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopathy. The first stage is mild nonproliferative retinopathy. At this earliest stage, there are small areas of balloon-like swelling in the retina's tiny blood vessels. The second stage is moderate nonproliferative retinopathy. As the disease progresses, some blood vessels that nourish the retina are blocked. The third stage is severe nonproliferative retinopathy. Many more blood vessels are blocked, depriving several areas of the retina of their blood supply. These areas send signals to the body to grow new blood vessels for nourishment. The fourth stage is proliferative retinopathy. At this advanced stage, the signals sent by the retina for nourishment cause the growth of new blood vessels. These new blood vessels are abnormal and fragile. The new blood vessels grow along the retina and along the surface of the clear, vitreous gel that fills the inside of the eye. By themselves, these blood vessels do not cause symptoms or vision loss. However, they have thin, fragile walls. If they leak blood, severe vision loss and even blindness can result. Other Diabetic Eye Diseases In addition to diabetic retinopathy, other diabetic eye diseases that people with diabetes may face are cataract and glaucoma. See this graphic for a quick overview of diabetic eye disease, including how many people it affects, whos at risk, what to do if you have it, and how to learn more.",NIHSeniorHealth,Diabetic Retinopathy +What causes Diabetic Retinopathy ?,"Who Is at Risk? All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with diabetes have some stage of diabetic retinopathy. If you have diabetic retinopathy, your doctor can recommend treatment to help prevent its progression. How Vision Loss Occurs Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. Fluid can leak into the center of the macula, the part of the eye where sharp, straight-ahead vision occurs. The fluid makes the macula swell, blurring vision. This condition is called macular edema. Macular edema can occur at any stage of diabetic retinopathy, although it is more likely to occur as the disease progresses. About half of the people with proliferative retinopathy also have macular edema. Macular edema can occur at any stage of diabetic retinopathy, although it is more likely to occur as the disease progresses. About half of the people with proliferative retinopathy also have macular edema. Have Dilated Eye Exams The National Eye Institute (NEI) urges everyone with diabetes to have a comprehensive dilated eye exam at least once a year. If you have diabetic retinopathy, you may need an eye exam more often. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Watch an animation to see what a comprehensive dilated eye exam includes.",NIHSeniorHealth,Diabetic Retinopathy +What are the symptoms of Diabetic Retinopathy ?,"Diabetic retinopathy often has no early warning signs. Don't wait for symptoms. Be sure to have a comprehensive dilated eye exam at least once a year to detect the disease before it causes damage to your vision. Vision Changes May Indicate Bleeding In the early stages of diabetic retinopathy, you may not notice any changes in your vision. But if diabetic retinopathy reaches its final stage, proliferative retinopathy, bleeding can occur. If this happens, at first, you will see a few specks of blood, or spots, floating in your vision. If spots occur, see your eye care professional as soon as possible. Early Treatment is Important You may need treatment before more serious bleeding or hemorrhages occur causing vision loss or possibly blindness. Hemorrhages tend to happen more than once, often during sleep. See how to find an eye care professional. Here is a list of questions to ask your eye care professional. Sometimes the spots clear without treatment, and you will see better. However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. If left untreated, proliferative retinopathy can cause severe vision loss and even blindness. Also, the earlier you receive treatment, the more likely treatment will be successful. Detection Diabetic retinopathy and macular edema are detected during a comprehensive eye exam that includes a visual acuity test, dilated eye exam, and tonometry. A visual acuity test is an eye chart test that measures how well you see at various distances. During the dilated eye exam, your eye care professional checks your retina for early signs of the disease, including - leaking blood vessels - retinal swelling such as macular edema - pale, fatty deposits on the retina -- signs of leaking blood vessels - damaged nerve tissue leaking blood vessels retinal swelling such as macular edema pale, fatty deposits on the retina -- signs of leaking blood vessels damaged nerve tissue Watch an animation showing what a comprehensive dilated eye exam involves. With tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. If your eye care professional believes you need treatment for macular edema, he or she may suggest a fluorescein angiogram. In this test, a special dye is injected into your arm. Pictures are taken as the dye passes through the blood vessels in your retina. The test allows your eye care professional to identify any leaking blood vessels and recommend treatment.",NIHSeniorHealth,Diabetic Retinopathy +What are the treatments for Diabetic Retinopathy ?,"Preventing Disease Progression During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. Treatment for Macular Edema Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed. Treatment for Diabetic Retinopathy Proliferative retinopathy is treated with laser surgery. This procedure is called scatter laser treatment. Scatter laser treatment helps to shrink the abnormal blood vessels. Your doctor places 1,000 to 2,000 laser burns in the areas of the retina away from the macula, causing the abnormal blood vessels to shrink. Because a high number of laser burns are necessary, two or more sessions usually are required to complete treatment. Although you may notice some loss of your side vision, scatter laser treatment can save the rest of your sight. Scatter laser treatment may slightly reduce your color vision and night vision. Scatter laser treatment works better before the fragile, new blood vessels have started to bleed. That is why it is important to have regular, comprehensive dilated eye exams. Even if bleeding has started, scatter laser treatment may still be possible, depending on the amount of bleeding. Learn more about laser treatment. Vitrectomy If the bleeding is severe, you may need a surgical procedure called a vitrectomy. During a vitrectomy, blood is removed from the center of your eye. Scatter laser treatment and vitrectomy are effective in treating proliferative retinopathy and in reducing vision loss. Once you have proliferative retinopathy, you always will be at risk for new bleeding. You may need treatment more than once to protect your sight. Learn more about a vitrectomy. Have Dilated Eye Exams The National Eye Institute (NEI) urges everyone with diabetes to have a comprehensive dilated eye exam at least once a year. If you have diabetic retinopathy, you may need an exam more often. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Watch an animation to see what a comprehensive dilated eye exam includes. Research The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery. A major study has shown that better control of blood sugar levels slows the onset and progression of retinopathy. The people with diabetes who kept their blood sugar levels as close to normal as possible also had much less kidney and nerve disease. Better control also reduces the need for sight-saving laser surgery.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Diabetic Retinopathy ?,"Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina, the light-sensitive tissue at the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. But over time, diabetic retinopathy can get worse and cause vision loss. Diabetic retinopathy usually affects both eyes. See this graphic for a quick overview of diabetic eye disease, including how many people it affects, whos at risk, what to do if you have it, and how to learn more.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Diabetic Retinopathy ?,"The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopathy Nonproliferative retinopathy. At this earliest stage, microaneurysms occur. They are small areas of balloon-like swelling in the retina's tiny blood vessels. Moderate nonproliferative retinopathy. As the disease progresses, some blood vessels that nourish the retina are blocked. Severe nonproliferative retinopathy. Many more blood vessels are blocked, depriving several areas of the retina of their blood supply. These areas of the retina send signals to the body to grow new blood vessels for nourishment. Proliferative retinopathy. At this advanced stage, the signals sent by the retina for nourishment trigger the growth of new blood vessels. These new blood vessels are abnormal and fragile. They grow along the retina and along the surface of the clear, vitreous gel that fills the inside of the eye.",NIHSeniorHealth,Diabetic Retinopathy +Who is at risk for Diabetic Retinopathy? ?,"All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with diabetes have some stage of diabetic retinopathy. If you have diabetic retinopathy, your doctor can recommend treatment to help prevent its progression. See how to find an eye care professional.",NIHSeniorHealth,Diabetic Retinopathy +What causes Diabetic Retinopathy ?,"Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. Fluid can leak into the center of the macula, the part of the eye where sharp, straight-ahead vision occurs. The fluid makes the macula swell, blurring vision. This condition is called macular edema. It can occur at any stage of diabetic retinopathy, although it is more likely to occur as the disease progresses. About half of the people with proliferative retinopathy also have macular edema.",NIHSeniorHealth,Diabetic Retinopathy +What are the symptoms of Diabetic Retinopathy ?,Diabetic retinopathy often has no early warning signs. Don't wait for symptoms. Be sure to have a comprehensive dilated eye exam at least once a year. Learn more about a comprehensive dilated eye exam.,NIHSeniorHealth,Diabetic Retinopathy +What are the symptoms of Diabetic Retinopathy ?,"At first, you will see a few specks of blood, or spots, ""floating"" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, the spots clear without treatment, and you will see better. However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. If left untreated, proliferative retinopathy can cause severe vision loss and even blindness. Also, the earlier you receive treatment, the more likely treatment will be effective.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Diabetic Retinopathy ?,"In this test, a special dye is injected into your arm. Pictures are taken as the dye passes through the blood vessels in your retina. The test allows your eye care professional to identify any leaking blood vessels and recommend treatment.",NIHSeniorHealth,Diabetic Retinopathy +What are the treatments for Diabetic Retinopathy ?,"Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed.",NIHSeniorHealth,Diabetic Retinopathy +What are the treatments for Diabetic Retinopathy ?,"During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. Proliferative retinopathy is treated with laser surgery. This procedure is called scatter laser treatment. Scatter laser treatment helps to shrink the abnormal blood vessels. Your doctor places 1,000 to 2,000 laser burns in the areas of the retina away from the macula, causing the abnormal blood vessels to shrink. Because a high number of laser burns are necessary, two or more sessions usually are required to complete treatment. Although you may notice some loss of your side vision, scatter laser treatment can save the rest of your sight. Scatter laser treatment may slightly reduce your color vision and night vision. If the bleeding is severe, you may need a surgical procedure called a vitrectomy. During a vitrectomy, blood is removed from the center of your eye.",NIHSeniorHealth,Diabetic Retinopathy +What are the treatments for Diabetic Retinopathy ?,"Both focal and scatter laser treatment are performed in your doctor's office or eye clinic. Before the surgery, your doctor will dilate your pupil and apply drops to numb the eye. The area behind your eye also may be numbed to prevent discomfort. The lights in the office will be dim. As you sit facing the laser machine, your doctor will hold a special lens to your eye. During the procedure, you may see flashes of light. These flashes eventually may create a stinging sensation that can be uncomfortable. You will need someone to drive you home after surgery. Because your pupil will remain dilated for a few hours, you should bring a pair of sunglasses. For the rest of the day, your vision will probably be a little blurry. If your eye hurts, your doctor can suggest treatment.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Diabetic Retinopathy ?,"If you have a lot of blood in the center of the eye, or vitreous gel, you may need a vitrectomy to restore your sight. If you need vitrectomies in both eyes, they are usually done several weeks apart. A vitrectomy is performed under either local or general anesthesia. Your doctor makes a tiny incision in your eye. Next, a small instrument is used to remove the vitreous gel that is clouded with blood. The vitreous gel is replaced with a salt solution. Because the vitreous gel is mostly water, you will notice no change between the salt solution and the original vitreous gel.",NIHSeniorHealth,Diabetic Retinopathy +What are the treatments for Diabetic Retinopathy ?,"Yes. Both treatments are very effective in reducing vision loss. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Although both treatments have high success rates, they do not cure diabetic retinopathy. Once you have proliferative retinopathy, you always will be at risk for new bleeding. You may need treatment more than once to protect your sight.",NIHSeniorHealth,Diabetic Retinopathy +what research (or clinical trials) is being done for Diabetic Retinopathy ?,"The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery.",NIHSeniorHealth,Diabetic Retinopathy +What to do for Diabetic Retinopathy ?,"If you have diabetes, get a comprehensive dilated eye exam at least once a year. Proliferative retinopathy can develop without symptoms. If it gets to this advanced stage, you are at high risk for vision loss or even blindness. Macular edema can develop without symptoms at any of the four stages of diabetic retinopathy. You can develop both proliferative retinopathy and macular edema and still see fine. However, you are at high risk for vision loss. Your eye care professional can tell if you have macular edema or any stage of diabetic retinopathy. Whether or not you have symptoms, early detection and timely treatment can prevent vision loss. See this glossary for basic terms about diabetic retinopathy.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Diabetic Retinopathy ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov Find eye health organizations that address diabetic eye disease.",NIHSeniorHealth,Diabetic Retinopathy +What is (are) Depression ?,"Everyone feels blue or sad now and then, but these feelings don't usually last long and pass within a couple of days. When a person has depression, it interferes with daily life and normal functioning, and causes pain for both the person with depression and those who care about him or her. Doctors call this condition ""depressive disorder,"" or ""clinical depression."" Depression in Older Adults Important life changes that happen as we get older may cause feelings of uneasiness, stress, and sadness. For instance, the death of a loved one, moving from work into retirement, or dealing with a serious illness can leave people feeling sad or anxious. After a period of adjustment, many older adults can regain their emotional balance, but others do not and may develop depression. Depression is a common problem among older adults, but it is NOT a normal part of aging. In fact, studies show that most older adults feel satisfied with their lives, despite having more physical ailments. However, when older adults do suffer from depression, it may be overlooked because they may be less willing to talk about feelings of sadness or grief, or they may show different, less obvious symptoms, and doctors may be less likely to suspect or spot it. Sometimes it can be difficult to distinguish grief from major depression. Grief after loss of a loved one is a normal reaction to the loss and generally does not require professional mental health treatment. However, grief that lasts for a very long time following a loss may require treatment. Test Depression and Suicide Though it is widely believed that suicide more often affects young people, suicide is a serious problem among older adults, too particularly among older men and depression is usually a major contributing factor. Adults 65 and older have a suicide rate that is higher than the rate for the national population, but there are some major differences between older men and women. While suicide rates for older women are somewhat lower than those for young and middle-aged women, rates among men 75 and older are higher than those for younger men. In fact, white men age 85 and older have the highest suicide rate in the United States. Types of Depression There are several types of depression. The most common types are major depressive disorder and dysthymic disorder. - Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with a person's ability to work, sleep, concentrate, eat, and enjoy activities he or she once liked. Major depression prevents a person from functioning normally. An episode of major depression may occur only once in a person's lifetime, but more often, it recurs throughout a person's life. - Dysthymic disorder, also called dysthymia, is a less severe but more long-lasting form of depression. Dysthymia is characterized by symptoms lasting two years or longer that keep a person from functioning normally or feeling well. People with dysthymia may also experience one or more episodes of major depression during their lifetime. Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with a person's ability to work, sleep, concentrate, eat, and enjoy activities he or she once liked. Major depression prevents a person from functioning normally. An episode of major depression may occur only once in a person's lifetime, but more often, it recurs throughout a person's life. Dysthymic disorder, also called dysthymia, is a less severe but more long-lasting form of depression. Dysthymia is characterized by symptoms lasting two years or longer that keep a person from functioning normally or feeling well. People with dysthymia may also experience one or more episodes of major depression during their lifetime. Other types of depression include subsyndromal depression, psychotic depression. and bipolar depression. - Subsyndromal depression is common among older adults. It includes less severe but clear symptoms of depression that fall short of being major depression or dysthymia. Having subsyndromal depression may increase a person's risk of developing major depression. - Psychotic depression occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). - Bipolar depression, also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression). Subsyndromal depression is common among older adults. It includes less severe but clear symptoms of depression that fall short of being major depression or dysthymia. Having subsyndromal depression may increase a person's risk of developing major depression. Psychotic depression occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). Bipolar depression, also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression).",NIHSeniorHealth,Depression +What causes Depression ?,"Several lines of research have shown that depressive illnesses are disorders of the brain. But the exact causes for these illnesses are not yet clear and are still being studied. Changes in the Brain Imaging technologies show that the brains of people with depression look different or are working differently than those who do not have the illness. The areas of the brain that control moods, thinking, sleep, appetite, and behavior appear not to be functioning well. The scans also show very high or very low levels of important brain chemicals. But these images do not reveal WHY the depression has occurred. Many Possible Causes In general, there is no one cause or risk factor for depression. It most likely results from many factors, such as family history, life experiences, and environment. Older adults with depression may have had it when they were younger, or they may have a family history of the illness. They may also be going through difficult life events, such as losing a loved one, a difficult relationship with a family member or friend, or financial troubles. For older adults who experience depression for the first time later in life, other factors may be at play. Depression may be related to changes that occur in the brain and body as a person ages. For example, some older adults who are at risk for illnesses such as heart disease or stroke may have hardening and inflammation of the blood vessels, and blood may not be able to flow normally to the body's organs, including the brain. Over time, this blood vessel disease and restricted blood flow can damage nearby brain tissue and harm the nerve connections that help different parts of the brain communicate with each other. If this happens, an older adult with no family history of depression may develop what some doctors call ""vascular depression."" Older adults may also experience depression as a result of brain changes caused by illnesses such as Alzheimers disease or Parkinsons disease. This type of depression can appear in the early stages of these diseases, before many symptoms appear. Depression Can Occur With Other Illnesses Depression can also co-occur with other serious medical illnesses such as diabetes, cancer, and Parkinson's disease. Depression can make these conditions worse, and vice versa. Sometimes, medications taken for these illnesses may cause side effects that contribute to depression. Because many older adults face these illnesses along with various social and economic difficulties, some health care professionals may wrongly conclude that these problems are the cause of the depression -- an opinion often shared by patients themselves. All these factors can cause depression to go undiagnosed or untreated in older people. Yet, treating the depression will help an older adult better manage other conditions he or she may have.",NIHSeniorHealth,Depression +What are the symptoms of Depression ?,"Common Symptoms There are many symptoms associated with depression, and some will vary depending on the individual. However, some of the most common symptoms are listed below. If you have several of these symptoms for more than two weeks, you may have depression. - feeling nervous or emotionally ""empty"" - feelings of excessive guilt or worthlessness - tiredness or a ""slowed down"" feeling - restlessness and irritability - feeling like life is not worth living - sleep problems, including trouble getting to sleep, wakefulness in the middle of the night, or sleeping too much - eating more or less than usual, usually with unplanned weight gain or loss - having persistent headaches, stomach-aches or other chronic pain that does not go away when treated - loss of interest in once pleasurable activities, including sex - frequent crying - difficulty focusing, remembering or making decisions - thoughts of death or suicide, or a suicide attempt feeling nervous or emotionally ""empty"" feelings of excessive guilt or worthlessness tiredness or a ""slowed down"" feeling restlessness and irritability feeling like life is not worth living sleep problems, including trouble getting to sleep, wakefulness in the middle of the night, or sleeping too much eating more or less than usual, usually with unplanned weight gain or loss having persistent headaches, stomach-aches or other chronic pain that does not go away when treated loss of interest in once pleasurable activities, including sex frequent crying difficulty focusing, remembering or making decisions thoughts of death or suicide, or a suicide attempt Is it Depression or Something Else? The first step to getting appropriate treatment is to visit a doctor. Certain medications taken for other medical conditions, vitamin B12 deficiency, some viruses, or a thyroid disorder can cause symptoms similar to depression. If an older adult is taking several medications for other conditions and is depressed, seeing a doctor is especially important. A doctor can rule out medications or another medical condition as the cause of the depression by doing a complete physical exam, interview, and lab tests. If these other factors can be ruled out, he or she may refer you to a mental health professional, such as a psychologist, counselor, social worker, or psychiatrist. Some doctors called geriatric psychiatrists and clinical geropsychologists are specially trained to treat depression and other mental illnesses in older adults. The doctor or mental health professional will ask about the history of your symptoms, such as when they started, how long they have lasted, their severity, whether they have occurred before, and if so, whether they were treated and how. He or she will then diagnose the depression and work with you to choose the most appropriate treatment.",NIHSeniorHealth,Depression +what research (or clinical trials) is being done for Depression ?,"Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditions. Some research has also suggested that the risk for developing depression in people who have had a stroke may be reduced if they receive preventative treatment with an antidepressant or talk therapy. Special Considerations However, there are some special considerations that doctors must take into account when treating older adults. The commonly prescribed medications for depression may not work well for some older adults because they may interact unfavorably with other medications being taken for other conditions. Some older adults with depression may also have some problems thinking clearly, and these individuals often respond poorly to the drugs. Which Form of Treatment Is Most Effective? Many older adults prefer to get counseling or psychotherapy for depression rather than add more medications to those they are already taking for other conditions. Research suggests that for older adults, psychotherapy is just as likely to be an effective first treatment for depression as taking an antidepressant. There is a great deal of evidence indicating that cognitive-behavioral therapy (CBT), including a version called problem solving therapy, may be an especially useful type of psychotherapy for treating older adults and improving their quality of life. However, a practical issue to consider when deciding on treatment is that it may be harder for many older people to find or be able to travel to meetings with a well-trained psychotherapist than to get a prescription for antidepressant medication from their primary care doctor. Also, some research suggests that treatment with medication may be more effective if the depression is quite severe or if the older adult is coping with other serious illnesses. Overall, research has suggested that, when possible, a combination of medication and psychotherapy treatment is likely to be most effective in treating depression in older adults and, in particular, for reducing the number of new episodes. Late-Life Depression is Often Undiagnosed Despite progress in treatment research, late-life depression often goes undiagnosed or is inadequately treated in older adults. In fact, several studies have found that up to 75 percent of older adults who die by suicide had visited their primary care doctors within one month of their deaths. Collaborative or comprehensive care may lead to better treatment results. Collaborative Care The Prevention of Suicide in Primary Care Elderly: Collaborative Trial (PROSPECT) offered antidepressant medication and/or psychotherapy to depressed older adults, along with a ""care manager"" -- a social worker, nurse or psychologist -- who monitored their symptoms, side effects of medication, and progress. The study found that those participants who had case-managed care got better more quickly, had longer periods without depression, and in general responded better to treatment than those who did not have case-managed care. Another study called the Improving Mood: Promoting Access to Collaborative Treatment (IMPACT) trial also found that collaborative care was more effective than usual care, and was less expensive over the long run as well. Improving Diagnosis of Depression Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a ""care manager"" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. Still other projects are investigating ways of improving older adults engagement in and ability to follow treatment plans for depression. Researchers are also looking at ways to - better understand the relationship between other medical illnesses and depression - integrate treatment for depression with treatments for other medical conditions a person may have - produce a quicker response to treatment - develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) - help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. better understand the relationship between other medical illnesses and depression integrate treatment for depression with treatments for other medical conditions a person may have produce a quicker response to treatment develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. Findings from these and other studies will provide important information for doctors to treat late-life depression. In a Crisis? Get Help! If you are in a crisis... If you are thinking about harming yourself or attempting suicide, tell someone who can help immediately. - Call your doctor. - Call 911 for emergency services. - Go to the nearest hospital emergency room. - Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you. Call your doctor. Call 911 for emergency services. Go to the nearest hospital emergency room. Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you.",NIHSeniorHealth,Depression +What is (are) Depression ?,"Depression is more than just feeling blue or sad. It is an illness. When you have depression, it interferes with daily life and normal functioning, and causes pain for both you and those who care about you.",NIHSeniorHealth,Depression +What is (are) Depression ?,"Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. Dysthymic disorder, or dysthymia, is a less severe but sometimes more long-lasting form of depression. It is characterized by symptoms lasting two years or longer that keep you from functioning normally or feeling well. Subsyndromal depression, affecting many older adults, includes real symptoms of depression that are less severe than major depression or dysthymia. Having sybsydromal depression may increase your risk of developing major depression. Psychotic depression occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). Bipolar depression also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression).",NIHSeniorHealth,Depression +Who is at risk for Depression? ?,"The risk factors for depression are family history, life experiences, and environment. If you have depression, you may have experienced it when you were younger, and may have a family history of the illness. You may also be going through difficult life events, such as physical or psychological trauma, losing a loved one, a difficult relationship with a family member or friend, or financial troubles. Any of these stressful experiences can lead to depression. For older adults who experience depression for the first time later in life, other factors may be at play. Depression may be related to changes that occur in the brain and body as a person ages. For example, some older adults who are at risk for illnesses such as heart disease or stroke may have hardening and inflammation of the blood vessels, and blood may not be able to flow normally to the body's organs, including the brain. Over time, this blood vessel disease and restricted blood flow can damage nearby brain tissue and harm the nerve connections that help different parts of the brain communicate with each other. If this happens, an older adult with no family history of depression may develop what some doctors call ""vascular depression."" Older adults may also experience depression as a result of brain changes caused by illnesses such as Alzheimers disease or Parkinsons disease. This type of depression can appear in the early stages of these diseases, before many symptoms appear.",NIHSeniorHealth,Depression +What are the symptoms of Depression ?,"Symptoms of depression often vary depending upon the person. Common symptoms include - feeling nervous or emotionally empty - tiredness or a ""slowed down"" feeling - feeling guilty or worthless - restlessness and irritability - feeling like life is not worth living - sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night - eating more or less than usual, usually with unplanned weight gain or loss - having persistent headaches, stomach-aches or other chronic pain that does not go away when treated - loss of interest in once pleasurable activities - frequent crying - difficulty focusing, remembering or making decisions - thoughts of death or suicide. feeling nervous or emotionally empty tiredness or a ""slowed down"" feeling feeling guilty or worthless restlessness and irritability feeling like life is not worth living sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night eating more or less than usual, usually with unplanned weight gain or loss having persistent headaches, stomach-aches or other chronic pain that does not go away when treated loss of interest in once pleasurable activities frequent crying difficulty focusing, remembering or making decisions thoughts of death or suicide.",NIHSeniorHealth,Depression +What are the treatments for Depression ?,"Medications called antidepressants work to normalize brain chemicals called neurotransmitters, notably serotonin, norepinephrine, and dopamine. Scientists studying depression have found that these chemicals, and possibly others, are involved in regulating mood, but they are unsure of exactly how they work. Newer Antidepressants. The newest and most popular types of antidepressant medications are called selective serotonin reuptake inhibitors (SSRIs). They include fluoxetine (Prozac), citalopram (Celexa) and several others. Similar to SSRIs are serotonin and norepinephrine reuptake inhibitors (SNRIs) and include venlafaxine (Effexor) and duloxetine (Cymbalta). Another newer antidepressant bupropion (Wellbutrin) is neither an SSRI nor an SNRI but is popular as well. Older Antidepressants. Older antidepressants, called tricyclics and monoamine oxidase inhibitors (MAOIs), are still used sometimes, too. However, these older antidepressants are not as popular as the newer ones because they tend to have more side effects. However, medications affect everyone differently so talk with your doctor to decide which type is best for you. Practical Considerations. People taking MAOIs must follow strict food and medicine restrictions to avoid potentially serious interactions. If you take an MAOI, your doctor should give you a complete list of foods, medicines, and substances to avoid. MAOIs can also react with SSRIs to produce a serious condition called ""serotonin syndrome,"" which can cause confusion, hallucinations, increased sweating, muscle stiffness, seizures, changes in blood pressure or heart rhythm, and other potentially life threatening conditions. MAOIs should not be taken with SSRIs. Caution is required when combining any serotonergic medication (not just MAOIs) with SSRIs. For example, in 2006 the FDA issued specific warnings against using triptans that are commonly-prescribed to treat migraine headaches together with SSRIs or SNRIs. Using these medications together can cause serotonin syndrome.",NIHSeniorHealth,Depression +What are the treatments for Depression ?,"A bushy, wild-growing plant with yellow flowers, St John's wort has been used for centuries in many folk and herbal remedies. It is commonly used in Europe to treat mild depression, and it is a top-seller in the United States as well. In a study funded by the National Institutes of Health, the herb was found to be no more effective than a placebo (sugar pill) in treating adults suffering from major depression. Other research has shown that St. John's wort can interact unfavorably with other drugs. The herb interferes with certain drugs used to treat heart disease, depression, seizures, certain cancers, and organ transplant rejection. Because of these potential interactions, older adults should always consult with their doctors before taking any herbal supplement. Another product sold as a dietary supplement, S-adenosyl methionine (SAMe), has shown promise in controlled trials as helpful when added to an SSRI antidepressant that is only partially effective.",NIHSeniorHealth,Depression +What are the treatments for Depression ?,"Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a ""care manager"" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. Still other projects are investigating ways of improving older adults engagement in and ability to follow treatment plans for depression. Researchers are also looking at ways to - better understand the relationship between other medical illnesses and depression - integrate treatment for depression with treatments for other medical conditions a person may have - produce a quicker response to treatment - develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) - help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. better understand the relationship between other medical illnesses and depression integrate treatment for depression with treatments for other medical conditions a person may have produce a quicker response to treatment develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression.",NIHSeniorHealth,Depression +What is (are) Problems with Smell ?,"Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. It also can be a sign of more serious health problems. Aging and Smell Loss Problems with smell increase as people get older, and they are more common in men than women. In one study, nearly one-quarter of men ages 6069 had a smell disorder, while about 11 percent of women in that age range reported a problem. Many older people are not even aware that they have a problem with their sense of smell because the changes occur gradually over several years. They may not even notice that they are experiencing a loss of smell until there is an incident in which they don't detect food that has spoiled or the presence of dangerous smoke. How Our Sense of Smell Works The sense of smell, or olfaction, is part of our chemical sensing system, along with the sense of taste. Normal smell occurs when odors around us, like the fragrance of flowers or the smell of baking bread, stimulate the specialized sensory cells, called olfactory sensory cells. Olfactory sensory cells are located in a small patch of tissue high inside the nose. Odors reach the olfactory sensory cells in two pathways. The first pathway is by inhaling, or sniffing, through your nose. When people think about smell, they generally think of this pathway. The second pathway is less familiar. It is a channel that connects the roof of the throat region to the nose. When we chew our food, aromas are released that access olfactory sensory cells through this channel. If you are congested due to a head cold or sinus infection, this channel is blocked, which temporarily affects your ability to appreciate the flavors of food. Types of Smell Disorders People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. A decreased sense of smell may be temporary and treatable with medication. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia. Smell Loss May Signal Other Conditions Problems with our chemical senses may be a sign of other serious health conditions. A smell disorder can be an early sign of Parkinsons disease, Alzheimers disease, or multiple sclerosis. It can also be related to other medical conditions, such as obesity, diabetes, hypertension, and malnutrition. Getting a diagnosis early will help an individual deal better with the underlying condition or disease. Smell and Taste Smell and taste are closely linked in the brain, but are actually distinct sensory systems. True tastes are detected by taste buds on the tongue and the roof of the mouth, as well as in the throat region, and are limited to sweet, salty, sour, bitter, savory and perhaps a few other sensations. The loss of smell is much more common than the loss of taste, and many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with their sense of smell. A loss in taste or smell is diagnosed by your doctor using special taste and smell tests. Smell Loss and Eating Habits When smell is impaired, people usually have problems appreciating the subtle flavors of food, and say that food is less enjoyable. Some people change their eating habits. Some may eat too little and lose weight while others may eat too much and gain weight. Either way, there may be a long-term impact on one's overall health. Loss of smell may also cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with certain medical conditions, such as diabetes or high blood pressure. In severe cases, loss of smell can lead to depression. Hazards of Smell Loss Research shows that people with a total or partial loss of smell are almost twice as likely as people with normal smell to have certain kinds of accidents. The most common types of accidents in order of frequency involve - cooking - eating or drinking spoiled foods or toxic substances - failing to detect gas leaks or fires cooking eating or drinking spoiled foods or toxic substances failing to detect gas leaks or fires If you think you have a problem with your sense of smell, see your doctor.",NIHSeniorHealth,Problems with Smell +What causes Problems with Smell ?,"Problems with smell happen for many reasons, some clearer than others. Loss of smell may be permanent or temporary, depending on the cause. Effects of Aging As with vision and hearing, people gradually lose their ability to smell as they get older. Smell that declines with age is called presbyosmia and is not preventable. Age is only one of the many reasons that problems with smell can occur. Most people who develop a problem with smell have recently had an illness or injury. Common Causes The common causes of smell disorders are - sinus and upper respiratory infections - aging - smoking - nasal polyps - head injury - allergies - hormonal disturbances - dental problems - exposure to certain chemicals - numerous medications - radiation for treatment of head and neck cancers - diseases of the nervous system. sinus and upper respiratory infections aging smoking nasal polyps head injury allergies hormonal disturbances dental problems exposure to certain chemicals numerous medications radiation for treatment of head and neck cancers diseases of the nervous system. Sinus and Upper Respiratory Infections. The most common causes of smell problems are the common cold and chronic nasal or sinus infection. Respiratory infections such as the flu can lead to smell disorders. Swollen sinuses and nasal passages often result in problems with smell because the odors in the air do not have good access to the olfactory sensory cells. These conditions may cause total or partial loss of smell. The problem usually diminishes or goes away when the underlying medical condition clears up. Aging. Problems with smell become more common as people get older. A person's sense of smell generally declines when he or she is over 60. Smoking. Tobacco smoking is the most concentrated form of pollution that most people are exposed to. It impairs the ability to identify and enjoy odors. Nasal Polyps. Loss of smell can be caused by nasal polyps, which are small, non-cancerous growths in the nose or sinuses that can block the ability of odors to reach olfactory sensory cells high up in the nose. In rare cases, benign non-malignant tumors grow on the olfactory nerves leading to the brain, causing a loss of smell. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Automobile accidents are among the most frequent causes of trauma to the face and head. Allergies. If your smell disorder is caused by allergies and seasonal nasal congestion, you should avoid allergens, such as ragweed, grasses, and pet dander. Exposure to Certain Chemicals. Sometimes exposure to certain chemicals, such as insecticides and solvents, can permanently damage the sense of smell. Medications. If you are taking certain medicines, you may notice a change in your ability to smell. Certain medications, including some common antibiotics and antihistamines, can cause problems with smell. The sense of smell usually returns to normal when you stop taking the medicine. Radiation Treatment. People with head and neck cancers who receive radiation treatment to the nose and mouth regions commonly experience problems with their sense of smell and taste as an unfortunate side effect. Older people who have lost their larynx or voice box commonly complain of poor ability to smell and taste. Diseases of the Nervous System. Sometimes a problem with smell can be a sign of a more serious health problem. This might include diseases of the nervous system, such as Parkinson's disease or Alzheimer's disease. Loss of smell may be the first sign that something is wrong. Check with your doctor if you've been experiencing a problem with your sense of smell for a while. You may be able to prevent or get early treatment for a more serious health problem.",NIHSeniorHealth,Problems with Smell +What are the symptoms of Problems with Smell ?,"A Reduced Sense of Smell There are several types of smell disorders depending on how the sense of smell is affected. People who have smell disorders experience either a loss in their ability to smell or changes in the way they perceive odors. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. This smell disorder is common in people who have upper respiratory infections or nasal congestion. This is usually temporary and goes away when the infection clears up. If You Can't Detect Odor at All Other people can't detect odor at all, which is called anosmia. This type of smell disorder is sometimes the result of head trauma in the nose region, usually from an automobile accident or chronic nasal or sinus infections. It can sometimes be caused by aging. In rare cases, anosmia is inherited. If Your Sense of Smell Is Distorted Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Sometimes people with this type of smell disorder also experience headaches, dizziness, shortness of breath, or anxiety. Still others may perceive a smell that isn't present at all, which is called phantosmia. Questions To Ask Yourself If you think you have a problem with your sense of smell, try to identify and record the circumstances at the time you first noticed the problem. Ask yourself the following questions: - When did I first become aware of it? - Did I have a cold or the flu? - Did I have a head injury? - Was I exposed to air pollutants, pollens, pet dander, or dust to which I might be allergic? - Is this a recurring problem? - Does it come at any special time, like during the hay fever season? When did I first become aware of it? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollens, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, like during the hay fever season? Bring this information with you when you visit your physician. Also, be prepared to tell him or her about your general health and any medications you are taking. Talking With Your Doctor Diagnosis by a doctor is important to identify and treat the underlying cause of a potential smell disorder. Your doctor may refer you to an otolaryngologist, a specialist in diseases of the ear, nose, and throat. An accurate assessment of a smell disorder will include, among other things, - a physical examination of the ears, nose, and throat - a review of your health history, such as exposure to toxic chemicals or injury, and - a smell test supervised by a health care professional. a physical examination of the ears, nose, and throat a review of your health history, such as exposure to toxic chemicals or injury, and a smell test supervised by a health care professional. Tests for Smell Disorders Some tests measure the smallest amount of odor you can detect. You also may receive a ""scratch and sniff"" test to determine how well you can identify various odors from a list of possibilities. In this test, the odor is embedded in a circular pad on a piece of paper and released when scratched. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses. When to See the Doctor If you think you have a smell disorder, see your doctor. Diagnosis of a smell disorder is important because once the cause is found, your doctor may be able to treat your smell disorder. Many types of smell problems are reversible, but if they are not, counseling and self-help techniques may help you cope.",NIHSeniorHealth,Problems with Smell +What are the treatments for Problems with Smell ?,"Relief is Possible Although there is no treatment for presbyosmia -- loss of smell due to aging -- relief from smell disorders is possible for many older people. Depending on the cause of your problem with smell, your doctor may be able to treat it or suggest ways to cope with it. Recovering the Ability To Smell Some people recover their ability to smell when they recover from the illness causing their loss of smell. Some people recover their sense of smell spontaneously, for no obvious reason. Other common causes of smell loss, such as the common cold or seasonal allergies, are usually temporary. Smell is regained by waiting for the illness to run its course. In some cases, nasal obstructions, such as polyps, can be removed to restore airflow through the nasal passages and restore the sense of smell. If your smell disorder cant be successfully treated, you might want to seek counseling to help you adjust. Ask About Your Medications Sometimes a certain medication causes a smell disorder, and improvement occurs when the medicine causing the problem is stopped or changed. If you take medications, ask your doctor if they can affect your sense of smell. If so, ask if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Medications That May Help Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary. Occasionally, the sense of smell returns to normal on its own without any treatment. Steps You Can Take If you have a problem with smell, there are some things you can do. - Wait it out. If you have had a cold with a stuffy nose, chances are in a few days your sense of smell will return. However, you should not wait to see your doctor if you think something more serious has caused your loss of smell or you have had the problem for a while. Loss of smell can sometimes mean a more serious condition exists. Wait it out. If you have had a cold with a stuffy nose, chances are in a few days your sense of smell will return. However, you should not wait to see your doctor if you think something more serious has caused your loss of smell or you have had the problem for a while. Loss of smell can sometimes mean a more serious condition exists. - Sweat it out. If your nose is stuffed up from a cold, sometimes mild exercise or the steam from a hot shower may open up your nasal passages. Sweat it out. If your nose is stuffed up from a cold, sometimes mild exercise or the steam from a hot shower may open up your nasal passages. - Stop smoking. Smoking causes long-term damage to your sense of smell. If you quit smoking, you may notice some improvement. To get free help quitting, visit www.Smokefree.gov Stop smoking. Smoking causes long-term damage to your sense of smell. If you quit smoking, you may notice some improvement. To get free help quitting, visit www.Smokefree.gov - Check with your doctor. If your sense of smell seems to have disappeared or changed, or if you've noticed the problem for a while, see your doctor for help. Sometimes, especially with a sinus infection, taking antibiotics for a short period of time may remedy the problem. If there is a blockage or you have a chronic sinus condition, outpatient surgery may be called for. Check with your doctor. If your sense of smell seems to have disappeared or changed, or if you've noticed the problem for a while, see your doctor for help. Sometimes, especially with a sinus infection, taking antibiotics for a short period of time may remedy the problem. If there is a blockage or you have a chronic sinus condition, outpatient surgery may be called for. If Your Smell Loss Is Permanent If you do not regain your sense of smell, there are things you should do to ensure your safety. Take extra precautions to avoid eating food that may have spoiled. If you live with other people, ask them to smell the food to make sure it is fresh. People who live alone should discard food if there is a chance it is spoiled. Other home safety measures include installing smoke alarms and gas detectors. For those who wish to have additional help, there may be support groups in your area. These are often associated with smell and taste clinics in medical school hospitals. Some online bulletin boards also allow people with smell disorders to share their experiences. Not all people with smell disorders will regain their sense of smell, but most can learn to live with it. Ongoing Research The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.",NIHSeniorHealth,Problems with Smell +What is (are) Problems with Smell ?,"Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of the throat region to the nose. Congestion blocks this flow and impacts our appreciation of the flavor of food.",NIHSeniorHealth,Problems with Smell +What are the symptoms of Problems with Smell ?,"People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia.",NIHSeniorHealth,Problems with Smell +What causes Problems with Smell ?,"Most people who have a problem with smell have recently had an illness or injury. The most common causes are upper respiratory infections, such as the common cold, and chronic sinus or nasal disease. Other common causes are - aging - smoking - nasal polyps - head injury - allergens such as ragweed, grasses, and pet dander - hormonal disturbances - dental problems - exposure to certain chemicals such as insecticides or solvents - medications such as antibiotics or antihistamines - radiation for treatment of head and neck cancers - diseases of the nervous system such as Parkinsons disease or Alzheimers disease. aging smoking nasal polyps head injury allergens such as ragweed, grasses, and pet dander hormonal disturbances dental problems exposure to certain chemicals such as insecticides or solvents medications such as antibiotics or antihistamines radiation for treatment of head and neck cancers diseases of the nervous system such as Parkinsons disease or Alzheimers disease.",NIHSeniorHealth,Problems with Smell +How to prevent Problems with Smell ?,"Problems with smell that occur with aging are not preventable. However, you can protect yourself against other causes of smell loss with these steps. - Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. - Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine - Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. - Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. - Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov - Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. - Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns. Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns.",NIHSeniorHealth,Problems with Smell +What causes Problems with Smell ?,"In rare cases, certain medicines such as antibiotics or antihistamines may cause a change in your ability to smell. If you are taking these medications and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell.",NIHSeniorHealth,Problems with Smell +How to diagnose Problems with Smell ?,"Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered ""scratch and sniff"" test allows a person to scratch pieces of paper treated to release different odors, sniff them, and try to identify each odor from a list of possibilities. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses.",NIHSeniorHealth,Problems with Smell +What are the treatments for Problems with Smell ?,"Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections or allergies regain their sense of smell when the illness or condition is over. Often, correcting a general medical problem also can restore the sense of smell. For patients with nasal obstructions, such as polyps, or other inflammatory conditions of the nose or sinuses, medical treatments or surgery can restore the sense of smell. Occasionally, the sense of smell returns to normal on its own, without any treatment. Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary.",NIHSeniorHealth,Problems with Smell +What is (are) Problems with Smell ?,"You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of the problem? - Did I have a cold or the flu? - Did I have a head injury? - Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? - Is this a recurring problem? - Does it come at any special time, such as during the hay fever season? When did I first become aware of the problem? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, such as during the hay fever season?",NIHSeniorHealth,Problems with Smell +what research (or clinical trials) is being done for Problems with Smell ?,"The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.",NIHSeniorHealth,Problems with Smell +What is (are) Breast Cancer ?,"How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. Breast cancer occurs when malignant tumors form in the breast tissue. Who Gets Breast Cancer? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. (Watch the video to learn more about breast cancer survival rates. To enlarge the videos appearing on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Men can get breast cancer too, although they account for only 1 percent of all reported cases. Read more about breast cancer in men. When Breast Cancer Spreads When cancer grows in breast tissue and spreads outside the breast, cancer cells are often found in the lymph nodes under the arm. If the cancer has reached these nodes, it means that cancer cells may have spread, or metastasized, to other parts of the body. When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this ""distant"" disease. Learn about different kinds of breast cancer. Breast Cancer is Not Contagious Breast cancer is not contagious. A woman cannot ""catch"" breast cancer from other women who have the disease. Also, breast cancer is not caused by an injury to the breast. Most women who develop breast cancer do not have any known risk factors or a history of the disease in their families. Treating and Surviving Breast Cancer Today, more women are surviving breast cancer than ever before. Nearly three million women are breast cancer survivors. (Watch the video to hear a woman discuss surviving breast cancer.) There are several ways to treat breast cancer, but all treatments work best when the disease is found early. As a matter of fact, when it is caught in its earliest stage, 98.5 percent of women with the disease are alive five years later. Every day researchers are working to find new and better ways to detect and treat cancer. Many studies of new approaches for women with breast cancer are under way. With early detection, and prompt and appropriate treatment, the outlook for women with breast cancer can be positive. To learn more about what happens after treatment, see Surviving Cancer.",NIHSeniorHealth,Breast Cancer +Who is at risk for Breast Cancer? ?,"Some women develop breast cancer and others do not, and the risk factors for the disease vary. Breast cancer may affect younger women, but three-fourths of all breast cancers occur in women between the ages of 45 to 85. In Situ and Invasive Breast Cancer Researchers often talk about breast cancer in two ways: in situ and invasive. In situ refers to cancer that has not spread beyond its site of origin. Invasive applies to cancer that has spread to the tissue around it. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime. Risk Factors Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85. Older age. The risk of breast cancer in a 70 year old woman is about 10 times that of a 30 year old woman, but risk decreases after age 85. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. - Never being pregnant or having your first child in your mid-30s or later. Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. Early menstruation. Having your first menstrual period before age 12. - Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. - Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. - Gaining weight after menopause, especially after natural menopause and/or after age 60. Gaining weight after menopause, especially after natural menopause and/or after age 60. - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. Warning Signs When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - a dimple or puckering in the skin of the breast - a nipple turned inward into the breast - fluid, other than breast milk, from the nipple, especially if it's bloody - scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) - dimples in the breast that look like the skin of an orange. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast a dimple or puckering in the skin of the breast a nipple turned inward into the breast fluid, other than breast milk, from the nipple, especially if it's bloody scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) dimples in the breast that look like the skin of an orange. Don't Ignore Symptoms You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible. Some women believe that as they age, health problems are due to ""growing older."" Because of this myth, many illnesses go undiagnosed and untreated. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Talk to your doctor.",NIHSeniorHealth,Breast Cancer +Who is at risk for Breast Cancer? ?,"What Is Cancer Prevention? Cancer prevention is action taken to lower the chance of getting cancer. By preventing cancer, the number of new cases of cancer in a group or population is lowered. Hopefully, this will lower the number of deaths caused by cancer. When studying ways to prevent cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Risk Factors Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting. (For more on risk factors, see the chapter on ""Risk Factors."") Here are protective factors for breast cancer. Less Exposure to Estrogen Decreasing the length of time a woman's breast tissue is exposed to estrogen may help lower her risk of developing breast cancer. Exposure to estrogen is reduced in the following ways. - Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. - Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. - Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. - Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. - Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Exercise Women who exercise four or more hours a week have a lower risk of breast cancer. The effect of exercise on breast cancer risk may be greatest in premenopausal women who have normal or low body weight. Learn more about the benefits of exercise for older adults. For exercises tailored to older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging (NIA) at NIH. Estrogen-only Hormone Therapy After Hysterectomy Hormone therapy with estrogen only may be given to women who have had a hysterectomy. In these women, estrogen-only therapy after menopause may decrease the risk of breast cancer. There is an increased risk of stroke and heart and blood vessel disease in postmenopausal women who take estrogen after a hysterectomy. Learn about menopausal hormone therapy and cancer. Selective Estrogen Receptor Modulators (SERMs) Tamoxifen and raloxifene belong to the family of drugs called selective estrogen receptor modulators (SERMs). SERMs act like estrogen on some tissues in the body, but block the effect of estrogen on other tissues. Treatment with tamoxifen or raloxifene lowers the risk of breast cancer in postmenopausal women. Tamoxifen also lowers the risk of breast cancer in high-risk premenopausal women. With either drug, the reduced risk lasts for several years after treatment is stopped. Lower rates of broken bones have been noted in patients taking raloxifene. Prophylactic Mastectomy Some women who have a high risk of breast cancer may choose to have a prophylactic mastectomy (the removal of both breasts when there are no signs of cancer). The risk of breast cancer is much lower in these women and most feel less anxious about their risk of breast cancer. However, it is very important to have cancer risk assessment and counseling about the different ways to prevent breast cancer before making this decision. Learn more about surgery to reduce the risk of breast cancer. Prophylactic Oophorectomy Premenopausal women who have a high risk of breast cancer due to certain changes in the BRCA1 and BRCA2 genes may choose to have a prophylactic oophorectomy (the removal of both ovaries when there are no signs of cancer). This decreases the amount of estrogen made by the body and lowers the risk of breast cancer. Prophylactic oophorectomy also lowers the risk of breast cancer in normal premenopausal women and in women with an increased risk of breast cancer due to radiation to the chest. However, it is very important to have cancer risk assessment and counseling before making this decision. The sudden drop in estrogen levels may cause the symptoms of menopause to begin. These include hot flashes, trouble sleeping, anxiety, and depression. Long-term effects include decreased sex drive, vaginal dryness, and decreased bone density. Unclear As Risk Factors It is not clear whether the following affect the risk of breast cancer. - Oral contraceptives. Taking oral contraceptives (""the pill"") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. - Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. Oral contraceptives. Taking oral contraceptives (""the pill"") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. For More Information Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.",NIHSeniorHealth,Breast Cancer +How to diagnose Breast Cancer ?,"Most cancers in their early, most treatable stages do not cause any symptoms. That is why it's important to have regular tests to check for cancer long before you might notice anything wrong. Detecting Breast Cancer Through Screening When breast cancer is found early, it is more likely to be treated successfully. Checking for cancer in a person who does not have any symptoms is called screening. Screening tests for breast cancer include, among others, clinical breast exams and mammograms. Recent studies have shown that ultrasound and MRI's may also be useful complementary screening tools, particularly in women with mammograms that are not definitive. During a clinical breast exam, the doctor or other health care professional checks the breasts and underarms for lumps or other changes that could be a sign of breast cancer. A mammogram is a special x-ray of the breast that often can detect cancers that are too small for a woman or her doctor to feel. (Watch the video to learn more about digital mammography and dense breasts. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Who Should Have a Mammography? Several studies show that mammography screening has reduced the number of deaths from breast cancer. However, some other studies have not shown a clear benefit from mammography. Scientists are continuing to examine the level of benefit that mammography can produce. The U.S. Preventive Services Task Force (USPSTF) recommends a screening mammography for women 50-74 years every two years. Learn more about the USPSTF mammography recommendations here. Between 5 and 10 percent of mammogram results are abnormal and require more testing. Most of these follow-up tests confirm that no cancer was present. Worried about the cost of a mammogram? Learn about free and low-cost screenings. (Centers for Disease Control and Prevention) How Biopsies are Performed If needed, the most common follow-up test a doctor will recommend is called a biopsy. This is a procedure where a small amount of fluid or tissue is removed from the breast to make a diagnosis. A doctor might perform fine needle aspiration, a needle or core biopsy, or a surgical biopsy. - With fine needle aspiration, doctors numb the area and use a thin needle to remove fluid and/or cells from a breast lump. If the fluid is clear, it may not need to be checked out by a lab. - For a needle biopsy, sometimes called a core biopsy, doctors use a needle to remove tissue from an area that looks suspicious on a mammogram but cannot be felt. This tissue goes to a lab where a pathologist examines it to see if any of the cells are cancerous. - In a surgical biopsy, a surgeon removes a sample of a lump or suspicious area. Sometimes it is necessary to remove the entire lump or suspicious area, plus an area of healthy tissue around the edges. The tissue then goes to a lab where a pathologist examines it under a microscope to check for cancer cells. With fine needle aspiration, doctors numb the area and use a thin needle to remove fluid and/or cells from a breast lump. If the fluid is clear, it may not need to be checked out by a lab. For a needle biopsy, sometimes called a core biopsy, doctors use a needle to remove tissue from an area that looks suspicious on a mammogram but cannot be felt. This tissue goes to a lab where a pathologist examines it to see if any of the cells are cancerous. In a surgical biopsy, a surgeon removes a sample of a lump or suspicious area. Sometimes it is necessary to remove the entire lump or suspicious area, plus an area of healthy tissue around the edges. The tissue then goes to a lab where a pathologist examines it under a microscope to check for cancer cells. Another type of surgical biopsy that removes less breast tissue is called an image-guided needle breast biopsy, or stereotactic biopsy. Eighty percent of U.S. women who have a surgical breast biopsy do not have cancer. However, women who have breast biopsies are at higher risk of developing breast cancer than women who have never had a breast biopsy. Other Detection Methods Magnetic resonance imaging, or MRI, and ultrasound are two other techniques which, as supplements to standard mammography, might help detect breast cancer with greater accuracy. Genetic Detection The most comprehensive study to date of gene mutations in breast cancer, published in September 2012, confirmed that there are four primary subtypes of breast cancer, each with its own biology. The four groups are called intrinsic subtypes of breast cancer and include HER2-enriched (HER2E), Luminal A (LumA), Luminal B (LumB) and Basal-like. The outlook for survival is different for each of these subtypes of breast cancer. Researchers found that one subtype, Basal-like breast cancer, shares many genetic features with a form of ovarian cancer, and that both may respond similarly to drugs that reduce tumor growth or target DNA repair. The authors hope that discovery of these mutations will be an important step in the effort to improve therapies for breast cancer. For the time being, there are no genetic tests that are commercially available based solely on these findings. Soon, however, knowing extensively which breast cancer gene mutations a woman has should help guide precision treatment.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists People with cancer often are treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. (Watch the video about this breast cancer survivor's treatment. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Clinical Trials for Breast Cancer Some breast cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Women with breast cancer who are interested in taking part in a clinical trial should talk to their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. See a list of the current clinical trials on breast cancer.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"There are a number of treatments for breast cancer, but the ones women choose most often -- alone or in combination -- are surgery, hormone therapy, radiation therapy, and chemotherapy. What Standard Treatments Do Here is what the standard cancer treatments are designed to do. - Surgery takes out the cancer and some surrounding tissue. - Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - Chemotherapy uses anti-cancer drugs to kill most cancer cells. Surgery takes out the cancer and some surrounding tissue. Hormone therapy keeps cancer cells from getting most of the hormones they need to survive and grow. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. Chemotherapy uses anti-cancer drugs to kill most cancer cells. Treatment for breast cancer may involve local or whole body therapy. Doctors use local therapies, such as surgery or radiation, to remove or destroy breast cancer in a specific area. Whole body, or systemic, treatments like chemotherapy, hormonal, or biological therapies are used to destroy or control cancer throughout the body. Some patients have both kinds of treatment. Treating Early-Stage Breast Cancer If you have early-stage breast cancer, one common treatment available to you is a lumpectomy combined with radiation therapy. A lumpectomy is surgery that preserves a woman's breast. In a lumpectomy, the surgeon removes only the tumor and a small amount of the surrounding tissue. The survival rate for a woman who has this therapy plus radiation is similar to that for a woman who chooses a radical mastectomy, which is complete removal of a breast. If Cancer Has Spread Locally If you have breast cancer that has spread locally -- just to other parts of the breast -- your treatment may involve a combination of chemotherapy and surgery. Doctors usually first shrink the tumor with chemotherapy and then remove it through surgery. Shrinking the tumor before surgery may allow a woman to avoid a mastectomy and keep her breast. In the past, doctors would remove a lot of lymph nodes near breast tumors to see if the cancer had spread. Some doctors also use a method called sentinel node biopsy. Using a dye or radioactive tracer, surgeons locate the first or sentinel lymph node closest to the tumor, and remove only that node to see if the cancer has spread. If Cancer Has Spread Beyond the Breast If the breast cancer has spread to other parts of the body, such as the lung or bone, you might receive chemotherapy and/or hormonal therapy to destroy cancer cells and control the disease. Radiation therapy may also be useful to control tumors in other parts of the body. Get more information about treatment options for breast cancer and for recurrent breast cancer.",NIHSeniorHealth,Breast Cancer +what research (or clinical trials) is being done for Breast Cancer ?,"New Technologies Several new technologies offer hope for making future treatment easier for women with breast cancer. - Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. - Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. New Drug Combination Therapies New drug therapies and combination therapies continue to evolve. - A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. - New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. Treating HER2-Positive Breast Cancer Herceptin is a drug commonly used to treat women who have a certain type of breast cancer. This drug slows or stops the growth of cancer cells by blocking HER2, a protein found on the surface of some types of breast cancer cells. Approximately 20 to 25 percent of breast cancers produce too much HER2. These ""HER2 positive"" tumors tend to grow faster and are generally more likely to return than tumors that do not overproduce HER2. Results from clinical trials show that those patients with early-stage HER2 positive breast cancer who received Herceptin in combination with chemotherapy had a 52 percent decrease in risk in the cancer returning compared with patients who received chemotherapy treatment alone. Cancer treatments like chemotherapy can be systemic, meaning they affect whole tissues, organs, or the entire body. Herceptin, however, was the first drug used to target only a specific molecule involved in breast cancer. Another drug, Tykerb, was approved by the U.S. Food and Drug Administration for use for treatment of HER2-positive breast cancer. Because of the availability of these two drugs, an international trial called ALTTO was designed to determine if one drug is more effective, safer, and if taking the drugs separately, in tandem order, or together is better. Unfortunately, the results, released in 2014, showed that taking two HER2-targeted agents together was no better than taking one alone in improving survival. The TAILORx Trial In an attempt to further specialize breast cancer treatment, The Trial Assigning Individualized Options for Treatment, or TAILORx, enrolled 10,000 women to examine whether appropriate treatment can be assigned based on genes that are frequently associated with risk of recurrence of breast cancer. The goal of TAILORx is important because the majority of women with early-stage breast cancer are advised to receive chemotherapy in addition to radiation and hormonal therapy, yet research has not demonstrated that chemotherapy benefits all of them equally. TAILORx seeks to examine many of a woman's genes simultaneously and use this information in choosing a treatment course, thus sparing women unnecessary treatment if chemotherapy is not likely to be of substantial benefit to them.",NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.",NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.,NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,"When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this ""distant"" disease.",NIHSeniorHealth,Breast Cancer +Who is at risk for Breast Cancer? ?,"Did You Know: Breast Cancer Statistics? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. Today, more women are surviving breast cancer than ever before. Over two million women are breast cancer survivors. (Watch the video to learn more about breast cancer survival rates. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Men can get breast cancer too, although they account for only one percent of all reported cases. Read more about breast cancer in men.",NIHSeniorHealth,Breast Cancer +What are the symptoms of Breast Cancer ?,"When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - a dimple or puckering in the skin of the breast - a nipple turned inward into the breast - fluid, other than breast milk, from the nipple, especially if it's bloody - scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) - dimples in the breast that look like the skin of an orange. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast a dimple or puckering in the skin of the breast a nipple turned inward into the breast fluid, other than breast milk, from the nipple, especially if it's bloody scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple) dimples in the breast that look like the skin of an orange. Don't Ignore Symptoms You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible. Some women believe that as they age, health problems are due to ""growing older."" Because of this myth, many illnesses go undiagnosed and untreated. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Talk to your doctor.",NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,"One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer.",NIHSeniorHealth,Breast Cancer +Who is at risk for Breast Cancer? ?,"Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. - Never being pregnant or having your first child in your mid-30s or later. - Early menstruation. Having your first menstrual period before age 12. - Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. - Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. - Gaining weight after menopause, especially after natural menopause and/or after age 60. - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Never being pregnant or having your first child in your mid-30s or later. Early menstruation. Having your first menstrual period before age 12. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Gaining weight after menopause, especially after natural menopause and/or after age 60. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma. Five percent to 10 percent of all breast cancers are thought to be inherited. Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime.",NIHSeniorHealth,Breast Cancer +How to prevent Breast Cancer ?,"When studying ways to prevent breast cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting.",NIHSeniorHealth,Breast Cancer +What are the symptoms of Breast Cancer ?,"When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - ridges or pitting of the breast; the skin looks like the skin of an orange - a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly - nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast ridges or pitting of the breast; the skin looks like the skin of an orange a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible.",NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,"A mammogram can often detect breast changes in women who have no signs of breast cancer. Often, it can find a breast lump before it can be felt. If the results indicate that cancer might be present, your doctor will advise you to have a follow-up test called a biopsy.",NIHSeniorHealth,Breast Cancer +Who is at risk for Breast Cancer? ?,"The risks of breast cancer screening tests include the following. - Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. - False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. - False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. - Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. - Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. - There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. Some women worry about radiation exposure, but the risk of any harm from a mammogram is actually quite small. The doses of radiation used are very low and considered safe. The exact amount of radiation used during a mammogram will depend on several factors. For instance, breasts that are large or dense will require higher doses to get a clear image. Learn more about the risks of breast cancer screening.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"You can seek conventional treatment from a specialized cancer doctor, called an oncologist. The oncologist will usually assemble a team of specialists to guide your therapy. Besides the oncologist, the team may include a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. You might also be eligible to enroll in a clinical trial to receive treatment that conventional therapies may not offer.",NIHSeniorHealth,Breast Cancer +what research (or clinical trials) is being done for Breast Cancer ?,Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.,NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is in the breast. - if the cancer has spread within the breast. - if cancer is present in the lymph nodes under the arm. - If cancer is present in other parts of the body. the size of the tumor and exactly where it is in the breast. if the cancer has spread within the breast. if cancer is present in the lymph nodes under the arm. If cancer is present in other parts of the body. Read more details about the stages of breast cancer.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Standard treatments for breast cancer include - surgery that takes out the cancer and some surrounding tissue - radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - chemotherapy that uses anti-cancer drugs to kill cancer most cells - hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. surgery that takes out the cancer and some surrounding tissue radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. chemotherapy that uses anti-cancer drugs to kill cancer most cells hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. (Watch the video to learn about one breast cancer survivor's story. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Breast Cancer +What is (are) Breast Cancer ?,"There are two types of breast-conserving surgery -- lumpectomy and partial mastectomy. - Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. - Partial or segmental mastectomy is removal of the cancer, some of the breast tissue around the tumor, and the lining over the chest muscles below the tumor. Often, surgeons remove some of the lymph nodes under the arm. In most cases, radiation therapy follows. Partial or segmental mastectomy is removal of the cancer, some of the breast tissue around the tumor, and the lining over the chest muscles below the tumor. Often, surgeons remove some of the lymph nodes under the arm. In most cases, radiation therapy follows.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Even if the surgeon removes all of the cancer that can be seen at the time of surgery, a woman may still receive follow-up treatment. This may include radiation therapy, chemotherapy, or hormone therapy to try to kill any cancer cells that may be left. Treatment that a patient receives after surgery to increase the chances of a cure is called adjuvant therapy.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present in the affected breast or in nearby lymph nodes. Doctors sometimes use radiation therapy along with chemotherapy, or before or instead of surgery.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer cells throughout the body. Treatment with standard chemotherapy can be as short as two months or as long as two years. Targeted therapies, usually in pill form, have become more common and focus on either a gene or protein abnormality and usually have few adverse side-effects as they directly affect the abnormality and not other cells or tissues in the body. Sometimes chemotherapy is the only treatment the doctor will recommend. More often, however, chemotherapy is used in addition to surgery, radiation therapy, and/or biological therapy.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. A woman should report any vaginal bleeding, other than menstrual bleeding, to her doctor as soon as possible.",NIHSeniorHealth,Breast Cancer +What are the treatments for Breast Cancer ?,"Certain drugs that have been used successfully in other cancers are now being used to treat some breast cancers. A mix of drugs may increase the length of time you will live, or the length of time you will live without cancer. In addition, certain drugs like Herceptin and Tykerb taken in combination with chemotherapy, can help women with specific genetic breast cancer mutations better than chemotherapy alone.",NIHSeniorHealth,Breast Cancer +What is (are) Colorectal Cancer ?,"How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. How Colorectal Cancer Develops Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when tumors form in the lining of the large intestine, also called the large bowel. Colorectal cancer accounts for almost ten percent of all cancer deaths in the United States. The risk of developing colorectal cancer rises after age 50. It is common in both men and women. Colorectal Cancer Can Spread Sometimes, cancer cells break away from the malignant tumor and enter the bloodstream or the lymphatic system where they travel to other organs in the body. Among other things, the lymphatic system transports white blood cells that fight infection. When cancer travels or spreads from its original location in the colon to another part of the body such as the liver, it is called metastatic colorectal cancer and not liver cancer. When colorectal cancer does spread, it tends to spread to the liver or lungs. Cure Rate for Early Detection Today there are more ways than ever to treat colorectal cancer. As with almost all cancers, the earlier it is found, the more likely that the treatment will be successful. If colon cancer is detected in its early stages, it is up to 90 percent curable.",NIHSeniorHealth,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,"Scientists don't know exactly what causes colorectal cancer, but they have been able to identify some risk factors for the disease. A risk factor is anything that increases your chances of getting a disease. Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis. Age Colorectal cancer is more likely to occur as people get older. It is more common in people over the age of 50, but younger people can get it, too. In rare cases, it can occur in adolescence. Polyps Polyps are benign, or non-cancerous, growths on the inner wall of the colon and rectum. They are fairly common in people over age 50. Some types of polyps increase a person's risk of developing colorectal cancer. Not all polyps become cancerous, but nearly all colon cancers start as polyps. Diet The link between diet and colorectal cancer is not firmly established. There is evidence that smoking cigarettes and drinking 3 or more alcoholic beverages daily may be associated with an increased risk of colorectal cancer. Personal History Research shows that women with a history of cancer of the ovary, uterus, or breast have a somewhat increased chance of developing colorectal cancer. Also, a person who has already had colorectal cancer may develop this disease a second time. Family History The parents, siblings, and children of a person who has had colorectal cancer are somewhat more likely to develop this type of cancer themselves. This is especially true if the relative had the cancer at a young age. If many family members have had colorectal cancer, the chances increase even more. Ulcerative colitis Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. Having this condition increases a person's chance of developing colorectal cancer. Genetic Mutations Researchers have identified genetic mutations, or abnormalities, that may be linked to the development of colon cancer. They are working to unravel the exact ways these genetic changes occur. Recent results from The Cancer Genome Atlas study of colorectal cancer point to several genes (BRAF and EGRF among others) that may increase risk. If You Have Risk Factors If you have one or more of these risk factors, it doesn't mean you will get colorectal cancer. It just increases the chances. You may wish to talk to your doctor about these risk factors. He or she may be able to suggest ways you can reduce your chances of developing colorectal cancer and plan an appropriate schedule for checkups.",NIHSeniorHealth,Colorectal Cancer +What are the symptoms of Colorectal Cancer ?,"Most cancers in their early, most treatable stages don't cause any symptoms. That is why it is important to have regular tests to check for cancer even when you might not notice anything wrong. Common Signs and Symptoms When colorectal cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that people should watch for. Common signs and symptoms of colorectal cancer include: - a change in the frequency of bowel movements - diarrhea, constipation, or feeling that the bowel does not empty completely - either bright red or very dark blood in the stool - stools that are narrower than usual - general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps - weight loss with no known reason - constant tiredness - vomiting a change in the frequency of bowel movements diarrhea, constipation, or feeling that the bowel does not empty completely either bright red or very dark blood in the stool stools that are narrower than usual general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps weight loss with no known reason constant tiredness vomiting These symptoms may be caused by colorectal cancer or by other conditions. It is important to check with a doctor if you have symptoms because only a doctor can make a diagnosis. Don't wait to feel pain. Early cancer usually doesn't cause pain. Lowering Your Risk Factors Lower your risk factors where possible. Colon cancer can be prevented if polyps that lead to the cancer are detected and removed. If colon cancer is found in its earliest stages, it is up to 90 percent curable. Tools for Early Detection Beginning at age 50, the following tools are all used for early detection. They can help identify pre-cancerous conditions. If you are younger than 50 and one of your first-degree relatives has had colon cancer, you should consult with your doctor. Tools used for early detection: - A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. - A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. - A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. - A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon, although the colon does need to be inflated with gas for proper scanning. A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon, although the colon does need to be inflated with gas for proper scanning.",NIHSeniorHealth,Colorectal Cancer +What are the treatments for Colorectal Cancer ?,"There are several treatment options for colorectal cancer, although most treatments begin with surgical removal of either the cancerous polyp or section of the colon. The choice of treatment depends on your age and general health, the stage of cancer, whether or not it has spread beyond the colon, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Colorectal Cancer Some colorectal cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. People with colorectal cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on colorectal cancer. A separate window will open. Click the ""x"" in the upper right hand corner of the ""Clinical Trials"" window to return here.",NIHSeniorHealth,Colorectal Cancer +What are the treatments for Colorectal Cancer ?,"Treatments are available for all patients who have colon cancer. The choice of treatment depends on the size, location, and stage of the cancer and on the patient's general health. Doctors may suggest several treatments or combinations of treatments. Surgery Is the Most Common First Step in a Treatment Regimen The three standard treatments for colon cancer are surgery, chemotherapy, and radiation. Surgery, however, is the most common first step in the treatment for all stages of colon cancer. Surgery is an operation to remove the cancer. A doctor may remove the cancer using several types of surgery. Local Excision If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube up the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp, which is a small bulging piece of tissue, the operation is called a polypectomy. Colectomy If the cancer is larger, the surgeon will remove the cancer and a small amount of healthy tissue around it. This is called a colectomy. The surgeon may then sew the healthy parts of the colon together. Usually, the surgeon will also remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer. Colostomy If the doctor is not able to sew the two ends of the colon back together, an opening called a stoma is made on the abdomen for waste to pass out of the body before it reaches the rectum. This procedure is called a colostomy. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. But if the doctor needs to remove the entire lower colon or rectum, the colostomy may be permanent. Adjuvant Chemotherapy Even if the doctor removes all of the cancer that can be seen at the time of the operation, many patients receive chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy treatment after surgery -- to increase the chances of a cure -- is called adjuvant therapy. Researchers have found that patients who received adjuvant therapy usually survived longer and went for longer periods of time without a recurrence of colon cancer than patients treated with surgery alone. Patients age 70 and older benefited from adjuvant treatment as much as their younger counterparts. In fact, adjuvant therapy is equally as effective -- and no more toxic -- for patients 70 and older as it is for younger patients, provided the older patients have no other serious diseases. Adjuvant chemotherapy is standard treatment for patients whose cancer is operable and who are at high risk for a recurrence of the disease. Most cases of colon cancer occur in individuals age 65 and over. But studies have shown that older patients receive adjuvant chemotherapy less frequently than younger patients. Chemotherapy Chemotherapy is the use of anti-cancer drugs to kill cancer cells. Chemotherapy may be taken by mouth, or it may be put into the body by inserting a needle into a vein or muscle. One form of chemotherapy is called systemic treatment because the drugs enter the bloodstream, travel through the body, and can kill cancer cells throughout the body. The other form of chemotherapy is called targeted therapy because the drug affects only the factors that are causing the cancer and does not perturb the rest of the body. Radiation Therapy Radiation therapy is the use of x-rays or other types of radiation to kill cancer cells and shrink tumors. Most often, doctors use it for patients whose cancer is in the rectum. Doctors may use radiation before surgery to shrink a tumor in the rectum and make it easier to remove. Or, they may use it after surgery to destroy any cancer cells that remain in the treated area. The radiation may come from a machine or from implants placed directly into or near the tumor. Radiation that comes from a machine is called external radiation. Radiation that uses implants is known as internal radiation. Some patients have both kinds of therapy.",NIHSeniorHealth,Colorectal Cancer +what research (or clinical trials) is being done for Colorectal Cancer ?,"Researchers continue to look at new ways to treat, diagnose, and prevent colorectal cancer. Many are testing other types of treatments in clinical trials. Advances in Treatments Studies have found that patients who took the drug Avastin, a targeted chemotherapy drug, with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but some studies have indicated that Avastin does not extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccines therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory. Surgical techniques have reduced the number of patients needing a permanent colostomy. A colostomy is an opening made in the abdomen for waste to pass out of the body before it reaches the rectum. In many cases, the surgeon can reconnect the healthy parts of the colon back together after removing the cancer. This way, the colon can function just as it did before. The PLCO Trial The National Cancer Institute's Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, or PLCO Trial, recently provided results about the role of sigmoidoscopy in reducing deaths from colon and rectal cancers. The PLCO trial, involving 148,000 volunteers aged 55 to 74, compared two groups of people over a 10-year period and found that the group that received sigmoidoscopies had fewer deaths from colorectal cancer than those who did not get a sigmoidoscopy. NSAIDs and Polyp Formation Preventing colorectal cancer is a concern of many researchers. Studies have shown that non-steroidal anti-inflammatory drugs (NSAIDs) can keep large-bowel polyps from forming. Bowel polyps can start out benign, or non-cancerous, but can become cancerous. However, the effects that these drugs have on the heart and other parts of the body is of concern, therefore these drugs should only be used for prevention under a doctor's supervision. Genetic Research Genes involved in colorectal cancer continue to be identified and understood. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people in a certain family to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers. Scientists are continuing to identify genes associated with colon cancers that run in families. Using traditional screening methods on people from families that carry these genes may be another way to identify cancers at an early stage and cut deaths from colorectal cancer. Genetic screening of people at high risk may become more common in the near future Besides looking at genes in families, researchers in the The Cancer Genome Atlas study looked at the genes of actual colon tumors to better understand the contribution that genes make to cancer. By looking at the genetic composition of the tumor, researchers were able to identify new mutations (changes) in the genes that can lead to cancer, including the genes BRAF and EGRF.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means non-cancerous, or malignant, which means cancerous.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Cancer of the colon or rectum is called colorectal cancer. The colon and the rectum are part of the large intestine, which is part of the digestive system. Colorectal cancer occurs when malignant tumors form in the lining of the large intestine, also called the large bowel.",NIHSeniorHealth,Colorectal Cancer +How many people are affected by Colorectal Cancer ?,Colorectal cancer accounts for almost ten percent of all cancer deaths in the United States. The risk of developing colorectal cancer rises after age 50. It is common in both men and women.,NIHSeniorHealth,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,"Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis.",NIHSeniorHealth,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,Yes. Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. It has been associated with an increased risk of colon cancer.,NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Parents, siblings, or children of a person who has had colorectal cancer are somewhat more likely to develop this type of cancer themselves. This is especially true if the relative had the cancer at a young age. If many family members have had colorectal cancer, the chances increase even more.",NIHSeniorHealth,Colorectal Cancer +What are the symptoms of Colorectal Cancer ?,"Possible signs of colorectal cancer include: - a change in the frequency of bowel movements - diarrhea, constipation, or feeling that the bowel does not empty completely - either bright red or very dark blood in the stool a change in the frequency of bowel movements diarrhea, constipation, or feeling that the bowel does not empty completely either bright red or very dark blood in the stool - stools that are narrower than usual - general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps - weight loss with no known reason - constant tiredness - vomiting stools that are narrower than usual general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps weight loss with no known reason constant tiredness vomiting",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Here are some of the tools used to detect colorectal cancer. - A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. A fecal occult blood test, or FOBT, is a test used to check for hidden blood in the stool. Sometimes cancers or polyps can bleed, and FOBT can detect small amounts of bleeding. Newer, genetically-based stool tests are proving to be more accurate than older tests. - A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. A sigmoidoscopy is an examination of the rectum and lower colon -- or sigmoid colon -- using a lighted instrument called a sigmoidoscope. - A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. A colonoscopy is an examination of the rectum and the large intestine (but not the small intestine) using a lighted instrument called a colonoscope. - A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon. The colon does need to be inflated with gas for proper scanning. A virtual colonoscopy, which requires the same preparation as a standard colonoscopy, is done with an external scanning machine as opposed to a device inserted into the colon. The colon does need to be inflated with gas for proper scanning.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Yes. In July 2008, the U.S. Preventive Services Task Force made its strongest ever recommendation for colorectal cancer screening: it suggested that all adults between ages 50 and 75 get screened, or tested, for the disease. The task force noted that various screening tests are available, making it possible for patients and their clinicians to decide which test is best for each person.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"The three standard treatments for colon cancer are surgery, chemotherapy, and radiation. Surgery, however, is the most common first step in the treatment for all stages of colon cancer. Surgery is an operation to remove the cancer. A doctor may remove the cancer using several types of surgery. For rectal cancer, radiation treatment also is an option.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Several types of surgery are available for someone with colorectal cancer. If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube up the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp, which is a small bulging piece of tissue, the operation is called a polypectomy. If the cancer is larger, the surgeon will remove the cancer and a small amount of healthy tissue around it. This is called a colectomy. The surgeon may then sew the healthy parts of the colon together. Usually, the surgeon will also remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer. If the doctor is not able to sew the two ends of the colon back together, an opening called a stoma is made on the abdomen for waste to pass out of the body before it reaches the rectum. This procedure is called a colostomy. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. But if the doctor needs to remove the entire lower colon, the colostomy may be permanent.",NIHSeniorHealth,Colorectal Cancer +What are the treatments for Colorectal Cancer ?,"Even if the doctor removes all the cancer that can be seen at the time of the operation, many patients receive chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy treatment after surgery -- to increase the chances of a cure -- is called adjuvant therapy. Researchers have found that patients who received adjuvant therapy usually survived longer and went for longer periods of time without a recurrence of colon cancer than patients treated with surgery alone. Patients age 70 and older benefited from adjuvant treatment as much as their younger counterparts. In fact, adjuvant therapy is equally as effective -- and no more toxic -- for patients 70 and older as it is for younger patients, provided the older patients have no other serious diseases. Adjuvant chemotherapy is standard treatment for patients whose cancer is operable and who are at high risk for a recurrence of the disease. Most cases of colon cancer occur in individuals age 65 and over. But studies have shown that older patients receive adjuvant chemotherapy less frequently than younger patients.",NIHSeniorHealth,Colorectal Cancer +What are the treatments for Colorectal Cancer ?,"For surgery, the main side effects are short-term pain and tenderness around the area of the operation. For chemotherapy, the side effects depend on which drugs you take and what the dosages are. Most often the side effects include nausea, vomiting, and hair loss. For radiation therapy, fatigue, loss of appetite, nausea, and diarrhea may occur. There are many new drugs that have greatly reduced the degree of nausea that used to be experienced because of some of these treatments.",NIHSeniorHealth,Colorectal Cancer +What is (are) Colorectal Cancer ?,"Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccine therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory.",NIHSeniorHealth,Colorectal Cancer +How to prevent Colorectal Cancer ?,"Scientists have done research on chemoprevention -- the use of drugs to prevent cancer from developing in the first place. Most of these studies have looked at people with high risk for the disease (where it runs in families) and not in the general population. For example, researchers have found that anti-inflammatory drugs helped keep intestinal tumors from forming, but serious side effects have been noted so researchers are proceeding cautiously. Studies have shown that non-steroidal anti-inflammatory drugs can keep large bowel polyps from forming. Bowel polyps can start out benign, or non-cancerous, but can become cancerous. Serious cardiac effects of these drugs have been noted so researchers are also proceeding cautiously in recommending these drugs for prevention.",NIHSeniorHealth,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,"Researchers are working hard to understand and identify the genes involved in colorectal cancer. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers.",NIHSeniorHealth,Colorectal Cancer +What is (are) Parkinson's Disease ?,"A Brain Disorder Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It affects about half a million people in the United States although the numbers may be much higher. The average age of onset is 60 years, and the risk of developing Parkinson's goes up with age. Parkinson's disease was first described in 1817 by James Parkinson, a British doctor who published a paper on what he called ""the shaking palsy."" In this paper, he described the major symptoms of the disease that would later bear his name. Four Main Symptoms Parkinson's disease belongs to a group of neurological conditions called movement disorders. The four main symptoms of Parkinson's are: - tremor, or trembling in hands, arms, legs, jaw, or head - rigidity, or stiffness of the limbs and trunk - bradykinesia, or slowness of movement - postural instability, or impaired balance. tremor, or trembling in hands, arms, legs, jaw, or head rigidity, or stiffness of the limbs and trunk bradykinesia, or slowness of movement postural instability, or impaired balance. Parkinson's symptoms usually begin gradually and get worse over time. As the symptoms become more severe, people with the disorder may have difficulty walking, talking, or completing other simple tasks. They also experience non-motor, or movement, symptoms including mental and behavioral changes, sleep problems, depression, memory difficulties, and fatigue. Parkinson's disease not only affects the brain, but the entire body. While the brain involvement is responsible for the core features, other affected locations contribute to the complicated picture of Parkinson's. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious. Diagnosis Can Be Difficult About 60,000 Americans are diagnosed with Parkinson's disease each year. However, it's difficult to know exactly how many have it because many people in the early stages of the disease think their symptoms are due to normal aging and do not seek help from a doctor. Also, diagnosis is sometimes difficult because there are no medical tests that can diagnose the disease with certainty and because other conditions may produce symptoms of Parkinson's. For example, people with Parkinson's may sometimes be told by their doctors that they have other disorders, and people with diseases similar to Parkinson's may be incorrectly diagnosed as having Parkinson's. A persons good response to the drug levodopa may support the diagnosis. Levodopa is the main therapy for Parkinsons disease. Who Is at Risk? Both men and women can have Parkinsons disease. However, the disease affects about 50 percent more men than women. While the disease is more common in developed countries, studies also have found an increased risk of Parkinson's disease in people who live in rural areas and in those who work in certain professions, suggesting that environmental factors may play a role in the disorder. Researchers are focusing on additional risk factors for Parkinsons disease. One clear risk factor for Parkinson's is age. The average age of onset is 60 years and the risk rises significantly with advancing age. However, about 5 to 10 percent of people with Parkinson's have ""early-onset"" disease which begins before the age of 50. Early-onset forms of Parkinson's are often inherited, though not always, and some have been linked to specific gene mutations. Juvenile Parkinsonism In very rare cases, parkinsonian symptoms may appear in people before the age of 20. This condition is called juvenile parkinsonism. It is most commonly seen in Japan but has been found in other countries as well. It usually begins with dystonia (sustained muscle contractions causing twisting movements) and bradykinesia (slowness of movement), and the symptoms often improve with levodopa medication. Juvenile parkinsonism often runs in families and is sometimes linked to a mutated gene. Some Cases Are Inherited Evidence suggests that, in some cases, Parkinsons disease may be inherited. An estimated 15 to 25 percent of people with Parkinson's have a known relative with the disease. People with one or more close relatives who have Parkinson's have an increased risk of developing the disease themselves, but the total risk is still just 2 to 5 percent unless the family has a known gene mutation for the disease. A gene mutation is a change or alteration in the DNA or genetic material that makes up a gene. Researchers have discovered several genes that are linked to Parkinson's disease. The first to be identified was alpha-synuclein or SNCA. Inherited cases of Parkinsons disease are caused by mutations in the LRRK2, PARK2 or parkin, PARK7 or DJ-1, PINK1, or SNCA genes, or by mutations in genes that have not yet been identified.",NIHSeniorHealth,Parkinson's Disease +What causes Parkinson's Disease ?,"A Shortage of Dopamine Parkinson's disease occurs when nerve cells, or neurons, in an area of the brain that controls movement become impaired and/or die. Normally, these neurons produce an important brain chemical known as dopamine, but when the neurons die or become impaired, they produce less dopamine. This shortage of dopamine causes the movement problems of people with Parkinson's. Dopamine is a chemical messenger, or neurotransmitter. Dopamine is responsible for transmitting signals between the substantia nigra and multiple brain regions. The connection between the substantia nigra and the corpus striatum is critical to produce smooth, purposeful movement. Loss of dopamine in this circuit results in abnormal nerve-firing patterns within the brain that cause impaired movement. Loss of Norepinephrine People with Parkinson's also have loss of the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system. The sympathetic nervous system controls many automatic functions of the body, such as heart rate and blood pressure. The loss of norepinephrine might help explain several of the non-movement features of Parkinson's, such as fatigue, irregular blood pressure, decreased gastric motility or movement of food through the digestive tract, and postural hypotension. Postural hypotension is a sudden drop in blood pressure when a person stands up from a sitting or lying-down position. It may cause dizziness, lightheadedness, and in some cases, loss of balance or fainting. Lewy Bodies in Brain Cells Many brain cells of people with Parkinson's contain Lewy bodies. Lewy bodies are unusual deposits or clumps of the brain protein alpha-synuclein, along with other proteins, which are seen upon microscopic examination of the brain. Researchers do not yet know why Lewy bodies form or what role they play in the development of Parkinson's. The clumps may prevent the cell from functioning normally, or they may actually be helpful, perhaps by keeping harmful proteins ""locked up"" so the cells can function. Genetic Mutations Although some cases of Parkinson's appear to be hereditary, and a few can be traced to specific genetic mutations, most cases are sporadic. Sporadic means the disease occurs randomly and does not seem to run in families. Many researchers now believe that Parkinson's disease results from a combination of genetic and environmental factors. Scientists have identified several genetic mutations associated with Parkinson's including mutations in the alpha-synuclein gene. They think that many more genes may be linked to the disorder. Studying the genes responsible for inherited cases of Parkinson's can help researchers understand both inherited and sporadic cases. The same genes and proteins that are altered in inherited cases may also be altered in sporadic cases by environmental toxins or other factors. Researchers also hope that discovering genes will help identify new ways of treating Parkinson's. Environmental Toxins Although researchers increasingly recognize the importance of genetics in Parkinson's disease, most believe environmental exposures increase a person's risk of developing the disease. Even in inherited cases, exposure to toxins or other environmental factors may influence when symptoms of the disease appear or how the disease progresses. There are a number of toxins that can cause parkinsonian symptoms in humans. Researchers are pursuing the question of whether pesticides and other environmental factors not yet identified also may cause Parkinson's disease. Viruses are another possible environmental trigger for Parkinson's. Mitochondria and Free Radicals Research suggests that mitochondria may play a role in the development of Parkinson's disease. Mitochondria are the energy-producing components of the cell and are major sources of free radicals. Free radicals are molecules that damage membranes, proteins, DNA, and other parts of the cell. This damage is called oxidative stress. Changes to brain cells caused by oxidative stress, including free radical damage to DNA, proteins, and fats, have been found in people with Parkinson's. Clinical studies now underway test whether agents thought to improve energy metabolism and decrease oxidative stress slow the progression of Parkinson's disease. Recent evidence suggests that mutations in genes linked to Parkinsons disease result in mitochondrial dysfunction. Buildup of Harmful Proteins Other research suggests that the cell's protein disposal system may fail in people with Parkinson's, causing proteins like alpha-synuclein to build up to harmful levels and trigger premature cell death. Additional studies have found that clumps of protein that develop inside brain cells of people with Parkinson's may contribute to the death of nerve cells, or neurons. However, the exact role of the protein deposits remains unknown. These studies also found that inflammation, because of protein accumulation, toxins or other factors, may play a role in the disease. However, the exact role of the protein deposits remains unknown. Researchers are exploring the possibility of vaccine development to decrease or prevent the accumulation of alpha-synuclein. While mitochondrial dysfunction, oxidative stress, inflammation, and many other cellular processes may contribute to Parkinson's disease, scientists still do not know what causes cells that produce dopamine to die. Genes Linked to Parkinsons Researchers have discovered several genes that are linked to Parkinson's disease. The first to be identified was alpha-synuclein or SNCA . Studies have found that Lewy bodies from people with the sporadic form of Parkinson's contain clumps of alpha-synuclein protein. This discovery revealed a possible link between hereditary and sporadic forms of the disease. Other genes linked to Parkinson's include PARK2, PARK7, PINK1, and LRRK2. PARK2, PARK7, and PINK1 cause rare, early-onset forms of the disease. Mutations in the LRRK2 gene are common in specific populations, including in people with Parkinson's in North Africa. Researchers are continuing to study the normal functions and interactions of these genes in order to find clues about how Parkinson's develops. They also have identified a number of other genes and chromosome regions that may play a role in Parkinson's, but the nature of these links is not yet clear. Whole genome wide association studies, or GWAS, of thousands of people with Parkinson's disease are now underway to find gene variants that allow for an increased risk of developing Parkinson's but are not necessarily causes of this disorder by themselves. A recent international study found that two genes containing mutations known to cause rare hereditary forms of Parkinsons disease are also associated with the more common sporadic form of the disease. This finding came from a GWAS which looked at DNA samples of European people who had Parkinsons disease and from those who did not have the disorder.",NIHSeniorHealth,Parkinson's Disease +What are the symptoms of Parkinson's Disease ?,"Parkinson's disease does not affect everyone the same way. Symptoms of the disorder and the rate of progression differ among people with the disease. Sometimes people dismiss early symptoms of Parkinson's as the effects of normal aging. There are no medical tests to definitively diagnose the disease, so it can be difficult to diagnose accurately. Early Symptoms Early symptoms of Parkinson's disease are subtle and occur gradually. For example, affected people may feel mild tremors or have difficulty getting out of a chair. They may notice that they speak too softly or that their handwriting is slow and looks cramped or small. This very early period may last a long time before the more classic and obvious symptoms appear. Friends or family members may be the first to notice changes in someone with early Parkinson's. They may see that the person's face lacks expression and animation, a condition known as ""masked face,"" or that the person does not move an arm or leg normally. They also may notice that the person seems stiff, unsteady, or unusually slow. As the Disease Progresses As the disease progresses, symptoms may begin to interfere with daily activities. The shaking or tremor may make it difficult to hold utensils steady or read a newspaper. Tremor is usually the symptom that causes people to seek medical help. People with Parkinson's often develop a so-called parkinsonian gait that includes a tendency to lean forward, small quick steps as if hurrying forward (called festination), and reduced swinging of the arms. They also may have trouble initiating or continuing movement, which is known as freezing. Symptoms often begin on one side of the body or even in one limb on one side of the body. As the disease progresses, it eventually affects both sides. However, the symptoms may still be more severe on one side than on the other. Four Primary Symptoms The four primary symptoms of Parkinson's are tremor, rigidity, slowness of movement (bradykinesia), and impaired balance (postural instability). - Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. - Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as ""cogwheel"" rigidity. - Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. - Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as ""cogwheel"" rigidity. Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Other Symptoms A number of other symptoms may accompany Parkinson's disease. Some are minor; others are not. Many can be treated with medication or physical therapy. No one can predict which symptoms will affect an individual person, and the intensity of the symptoms varies from person to person. Many people note that prior to experiencing motor problems of stiffness and tremor, they had symptoms of a sleep disorder, constipation, decreased ability to smell, and restless legs. Other symptoms include - depression - emotional changes - difficulty swallowing and chewing - speech changes - urinary problems or constipation - skin problems, sleep problems - dementia or other cognitive problems - orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) - muscle cramps and dystonia (twisting and repetitive movements) - pain - fatigue and loss of energy - sexual dysfunction. depression emotional changes difficulty swallowing and chewing speech changes urinary problems or constipation skin problems, sleep problems dementia or other cognitive problems orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) muscle cramps and dystonia (twisting and repetitive movements) pain fatigue and loss of energy sexual dysfunction. A number of disorders can cause symptoms similar to those of Parkinson's disease. People with Parkinson's-like symptoms that result from other causes are sometimes said to have parkinsonism. While these disorders initially may be misdiagnosed as Parkinson's, certain medical tests, as well as response to drug treatment, may help to distinguish them from Parkinson's. Diagnosis Can Be Difficult There are currently no blood, or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Early signs and symptoms of Parkinson's may sometimes be dismissed as the effects of normal aging. A doctor may need to observe the person for some time until it is clear that the symptoms are consistently present. Improvement after initiating medication is another important hallmark of Parkinson's disease. Doctors may sometimes request brain scans or laboratory tests to rule out other diseases. However, computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with Parkinson's usually appear normal. Recently, the FDA (Food and Drug Administration) has approved an imaging technique called DaTscan, which may help to increase accuracy of the diagnosis of Parkinsons disease. Since many other diseases have similar features but require different treatments, it is very important to make an exact diagnosis as soon as possible to ensure proper treatment.",NIHSeniorHealth,Parkinson's Disease +What are the treatments for Parkinson's Disease ?,"Deep Brain Stimulation Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. The electrodes are connected by a wire under the skin to a small electrical device called a pulse generator that is implanted in the chest. The pulse generator and electrodes painlessly stimulate the brain in a way that helps to stop many of the symptoms of Parkinson's such as tremor, bradykinesia, and rigidity. DBS is primarily used to stimulate one of three brain regions: the subthalamic nucleus, the globus pallidus, or the thalamus. Researchers are exploring optimal generator settings for DBS, whether DBS of other brain regions will also improve symptoms of Parkinsons disease, and also whether DBS may slow disease progression. Deep brain stimulation usually reduces the need for levodopa and related drugs, which in turn decreases dyskinesias and other side effects. It also helps to relieve on-off fluctuation of symptoms. People who respond well to treatment with levodopa tend to respond well to DBS. Unfortunately, older people who have only a partial response to levodopa may not improve with DBS. Complementary and Supportive Therapies A wide variety of complementary and supportive therapies may be used for Parkinson's disease. Among these therapies are standard physical, occupational, and speech therapies, which help with gait and voice disorders, tremors and rigidity, and decline in mental functions. Other supportive therapies include diet and exercise. Diet At this time there are no specific vitamins, minerals, or other nutrients that have any proven therapeutic value in Parkinson's disease. Some early reports have suggested that dietary supplements might protect against Parkinson's. Also, a preliminary clinical study of a supplement called coenzyme Q10 suggested that large doses of this substance might slow disease progression in people with early-stage Parkinson's. This supplement is now being tested in a large clinical trial. Other studies are being conducted to find out if caffeine, antioxidants, nicotine, and other dietary factors may help prevent or treat the disease. While there is currently no proof that any specific dietary factor is beneficial, a normal, healthy diet can promote overall well-being for people with Parkinson's disease, just as it would for anyone else. A high protein meal, however, may limit levodopa's effectiveness because for a time afterwards less levodopa passes through the blood-brain barrier. Exercise Exercise can help people with Parkinson's improve their mobility and flexibility. It can also improve their emotional well-being. Exercise may improve the brain's dopamine production or increase levels of beneficial compounds called neurotrophic factors in the brain. Other Therapies Other complementary therapies include massage therapy, yoga, tai chi, hypnosis, acupuncture, and the Alexander technique, which improves posture and muscle activity. There have been limited studies suggesting mild benefits from some of these therapies, but they do not slow Parkinson's disease and to date there is no convincing evidence that they help. However, this remains an active area of investigation.",NIHSeniorHealth,Parkinson's Disease +what research (or clinical trials) is being done for Parkinson's Disease ?,"In recent years, research on Parkinson's has advanced to the point that halting the progression of the disease, restoring lost function, and even preventing the disease are all considered realistic goals. While the goal of preventing Parkinson's disease may take years to achieve, researchers are making great progress in understanding and treating it. Genetics Research One of the most exciting areas of Parkinson's research is genetics. Studying the genes responsible for inherited cases can help researchers understand both inherited and sporadic cases of the disease. Identifying gene defects can also help researchers - understand how Parkinson's occurs - develop animal models that accurately mimic the death of nerve cells in humans - identify new approaches to drug therapy - improve diagnosis. understand how Parkinson's occurs develop animal models that accurately mimic the death of nerve cells in humans identify new approaches to drug therapy improve diagnosis. Researchers funded by the National Institute of Neurological Disorders and Stroke are gathering information and DNA samples from hundreds of families with members who have Parkinson's and are conducting large-scale studies to identify gene variants that are associated with increased risk of developing the disease. They are also comparing gene activity in Parkinson's with gene activity in similar diseases such as progressive supranuclear palsy. In addition to identifying new genes for Parkinson's disease, researchers are trying to learn about the function of genes known to be associated with the disease, and about how gene mutations cause disease. Effects of Environmental Toxins Scientists continue to study environmental toxins such as pesticides and herbicides that can cause Parkinson's symptoms in animals. They have found that exposing rodents to the pesticide rotenone and several other agricultural chemicals can cause cellular and behavioral changes that mimic those seen in Parkinson's. Role of Lewy Bodies Other studies focus on how Lewy bodies form and what role they play in Parkinson's disease. Some studies suggest that Lewy bodies are a byproduct of a breakdown that occurs within nerve cells, while others indicate that Lewy bodies are protective, helping neurons ""lock away"" abnormal molecules that might otherwise be harmful. Identifying Biomarkers Biomarkers for Parkinson's -- measurable characteristics that can reveal whether the disease is developing or progressing -- are another focus of research. Such biomarkers could help doctors detect the disease before symptoms appear and improve diagnosis of the disease. They also would show if medications and other types of therapy have a positive or negative effect on the course of the disease. The National Disorders of Neurological Disorders and Stroke has developed an initiative, the Parkinsons Disease Biomarkers Identification Network (PD-BIN), designed specifically to address these questions and to discover and validate biomarkers for Parkinsons disease. Transcranial Therapies Researchers are conducting many studies of new or improved therapies for Parkinson's disease. Studies are testing whether transcranial electrical polarization (TEP) or transcranial magnetic stimulation (TMS) can reduce the symptoms of the disease. In TEP, electrodes placed on the scalp are used to generate an electrical current that modifies signals in the brain's cortex. In TMS, an insulated coil of wire on the scalp is used to generate a brief electrical current. Drug Discovery A variety of new drug treatments for Parkinson's disease are in clinical trials. Several MAO-B inhibitors including selegiline, lazabemide, and rasagiline, are being tested to determine if they have neuroprotective effects in people with Parkinsons disease. The National Institute of Neurological Disorders and Stroke has launched a broad effort to find drugs to slow the progression of Parkinson's disease, called NET-PD or NIH Exploratory Trials in Parkinson's Disease. The first studies tested several compounds; one of these, creatine, is now being evaluated in a larger clinical trial. The NET-PD investigators are testing a highly purified form of creatine, a nutritional supplement, to find out if it slows the decline seen in people with Parkinson's. Creatine is a widely used dietary supplement thought to improve exercise performance. Cellular energy is stored in a chemical bond between creatine and a phosphate. More recently, NET-PD has initiated pilot studies to test pioglitazone, a drug that has been shown to stimulate mitochondrial function. Because mitochondrial function may be less active in Parkinsons disease, this drug may protect vulnerable dopamine neurons by boosting mitochondrial function. Cell Implantation Another potential approach to treating Parkinson's disease is to implant cells to replace those lost in the disease. Starting in the 1990s, researchers conducting a controlled clinical trial of fetal tissue implants tried to replace lost dopamine-producing nerve cells with healthy ones from fetal tissue in order to improve movement and the response to medications. While many of the implanted cells survived in the brain and produced dopamine, this therapy was associated with only modest functional improvements, mostly in patients under the age of 60. Some of the people who received the transplants developed disabling dyskinesias that could not be relieved by reducing anti-parkinsonian medications. Stem Cells Another type of cell therapy involves stem cells. Some stem cells derived from embryos can develop into any kind of cell in the body, while others, called progenitor cells, are less flexible. Researchers are developing methods to improve the number of dopamine-producing cells that can be grown from embryonic stem cells in culture. Other researchers are also exploring whether stem cells from adult brains might be useful in treating Parkinson's disease. Recent studies suggest that some adult cells from skin can be reprogrammed to an embryonic-like state, resulting in induced pluripotent stem cells (iPSC) that may someday be used for treatment of Parkinsons. In addition, development and characterization of cells from people with sporadic or inherited Parkinsons may reveal information about cellular mechanisms of disease and identify targets for drug development. Gene Therapy A number of early clinical trials are now underway to test whether gene therapy can improve Parkinson's disease. Genes which are found to improve cellular function in models of Parkinson's are inserted into modified viruses. The genetically engineered viruses are then injected into the brains of people with Parkinson's disease. Clinical studies have focused on the therapeutic potential of neurotrophic factors, including GDNF and neurturin, and enzymes that produce dopamine. These trials will test whether the viruses, by lending to the production of the protective gene product, improve symptoms of Parkinson's over time. The National Institute of Neurological Disorders and Stroke also supports the Morris K. Udall Centers of Excellence for Parkinson's Disease Research program . These Centers, located across the USA, study cellular mechanisms underlying Parkinsons disease, identify and characterize disease-associated genes, and discover and develop potential therapeutic targets. The Centers' multidisciplinary research environment allows scientists to take advantage of new discoveries in the basic, translational and clinical sciences that could lead to clinical advances for Parkinsons disease.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious.",NIHSeniorHealth,Parkinson's Disease +What are the symptoms of Parkinson's Disease ?,"Parkinson's belongs to a group of neurological conditions called movement disorders. The four main symptoms of Parkinson's disease are: - tremor, or trembling in hands, arms, legs, jaw, or head - rigidity, or stiffness of the limbs and trunk - bradykinesia, or slowness of movement - postural instability, or impaired balance. tremor, or trembling in hands, arms, legs, jaw, or head rigidity, or stiffness of the limbs and trunk bradykinesia, or slowness of movement postural instability, or impaired balance. Other symptoms include depression, emotional changes, difficulty swallowing, speech changes, urinary problems, sleep problems, and dementia and other cognitive problems. Parkinson's symptoms usually begin gradually and get worse over time. As the symptoms become more severe, people with the disorder may have difficulty walking, talking, or completing other simple tasks. They also experience non-motor, or movement, symptoms including mental and behavioral changes, sleep problems, depression, memory difficulties, and fatigue. Parkinson's disease not only affects the brain, but the entire body. While the brain involvement is responsible for the core features, other affected locations contribute to the complicated picture of Parkinson's.",NIHSeniorHealth,Parkinson's Disease +Who is at risk for Parkinson's Disease? ?,"About 60,000 Americans are diagnosed with Parkinson's disease each year. The disease strikes about 50 percent more men than women. The average age of onset is 60 years, and the risk of developing the disease increases with age. Parkinson's disease is also more common in developed countries, possibly because of increased exposure to pesticides or other environmental toxins.",NIHSeniorHealth,Parkinson's Disease +What causes Parkinson's Disease ?,"Parkinson's disease occurs when nerve cells, or neurons, in an area of the brain that controls movement die or become impaired. Normally, these neurons produce an important brain chemical known as dopamine, but once the neurons become impaired, they produce less dopamine and eventually die. It is this shortage of dopamine that causes the movement problems of people with Parkinson's.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"Dopamine is a brain chemical messenger, or neurotransmitter. It is responsible for transmitting signals between a brain region called the substantia nigra and multiple brain regions. The connection between the substantia nigra and the corpus striatum is critical to produce smooth, purposeful movement. Loss of dopamine results in abnormal nerve-firing patterns within the brain that cause impaired movement.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"Lewy bodies are unusual deposits or clumps of the brain protein alpha-synuclein, along with other proteins, which are seen upon microscopic examination of the brain. Many brain cells of people with Parkinson's disease contain Lewy bodies. Researchers do not yet know why Lewy bodies form or what role they play in the development of Parkinson's disease. The clumps may prevent the cell from functioning normally, or they may actually be helpful, perhaps by keeping harmful proteins ""locked up"" so that the cells can function.",NIHSeniorHealth,Parkinson's Disease +How to diagnose Parkinson's Disease ?,"There are currently no blood or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases. However, computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with Parkinson's usually appear normal. Recently, the FDA (Food and Drug Administration) has approved an imaging technique called DaTscan, which may help to increase accuracy of the diagnosis of Parkinsons disease. Since many other diseases have similar features but require different treatments, it is very important to make an exact diagnosis as soon as possible to ensure proper treatment.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"The main therapy for Parkinson's disease is the drug levodopa, also called L-dopa. It is a simple chemical found naturally in plants and animals. Nerve cells use levodopa to make dopamine to replenish the brain's supply. Levodopa helps to reduce tremors and other symptoms of Parkinson's disease during the early stages of the disease. It allows most people with Parkinson's to extend the period of time in which they can lead relatively normal, productive lives.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,Carbidopa is a drug that is usually given along with levodopa. It delays the body's conversion of levodopa into dopamine until the levodopa reaches the brain. This prevents or reduces some of the side effects that often accompany levodopa therapy. Carbidopa also reduces the amount of levodopa needed.,NIHSeniorHealth,Parkinson's Disease +What are the treatments for Parkinson's Disease ?,"Yes. Other medications available to treat some symptoms and stages of Parkinson's disease include direct dopamine agonists, MAO-B inhibitors, COMT inhibitors, an anti-viral drug, and anticholinergics. Direct dopamine agonists are drugs that mimic the role of dopamine in the brain. They can be used in the early stages of the disease, or later on to give a more prolonged and steady dopaminergic effect in people who experience ""wearing off"" or ""on-off"" effects from taking the drug. Dopamine agonists are generally less effective than levodopa in controlling rigidity and bradykinesia. They can cause confusion in older adults. MAO-B inhibitors are another class of drugs that can reduce the symptoms of Parkinson's by causing dopamine to build up in surviving nerve cells. COMT inhibitors prolong the effects of levodopa by preventing the breakdown of dopamine. COMT inhibitors can usually make it possible to reduce a person's dose of levodopa. Amantadine, an old antiviral drug, can help reduce Parkinson's symptoms in the early stages of the disease, and again in later stages to treat dyskinesias. Anticholinergics can help reduce tremors and muscle rigidity.",NIHSeniorHealth,Parkinson's Disease +What are the symptoms of Parkinson's Disease ?,"Doctors may prescribe a variety of medications to treat the non-motor symptoms of Parkinson's disease, such as depression and anxiety. Hallucinations, delusions, and other psychotic symptoms may be caused by some drugs prescribed for Parkinson's. Therefore, reducing or stopping those Parkinson's medications may make these symptoms of psychosis go away. A variety of treatment options, including medications, also are available to treat orthostatic hypotension, the sudden drop in blood pressure that occurs upon standing.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. The electrodes are connected under the skin to a small electrical device called a pulse generator, implanted in the chest. The generator and electrodes painlessly stimulate the brain to help stop many Parkinson's symptoms such as tremor, bradykinesia, and rigidity. DBS is primarily used to stimulate one of three brain regions: the subthalamic nucleus, the globus pallidus, or the thalamus. Researchers are exploring optimal generator settings for DBS, whether DBS of other brain regions will also improve symptoms of Parkinsons disease, and also whether DBS may slow disease progression. Deep brain stimulation usually reduces the need for levodopa and related drugs, which in turn decreases dyskinesias and other side effects. It also helps to relieve ""on-off"" fluctuation of symptoms. People who respond well to treatment with levodopa, even if only for a short period, tend to respond well to DBS.",NIHSeniorHealth,Parkinson's Disease +what research (or clinical trials) is being done for Parkinson's Disease ?,Genetics is one of the most exciting areas of Parkinson's disease research. Studying the genes responsible for inherited cases can help researchers understand both inherited and sporadic cases of the disease. Sporadic means the disease occurs randomly and does not seem to run in families. Identifying gene defects can also help researchers - understand how the disease occurs - develop animal models that accurately mimic the death of nerve cells in human Parkinson's disease - identify new drug targets - improve diagnosis. understand how the disease occurs develop animal models that accurately mimic the death of nerve cells in human Parkinson's disease identify new drug targets improve diagnosis.,NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"The Parkinsons Disease Biomarkers Identification Network, or PD-BIN, is an initiative developed by the National Institute of Neurological Disorders and Stroke to discover and validate biomarkers for Parkinsons disease. Biomarkers are measurable characteristics that can reveal whether the disease is developing or progressing. Biomarkers could help doctors detect Parkinsons disease before symptoms appear and improve diagnosis of the disorder.",NIHSeniorHealth,Parkinson's Disease +What is (are) Parkinson's Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) has launched a broad effort called NIH Exploratory Trials in Parkinson's Disease, or NET-PD, to find drugs to slow the progression of Parkinson's disease. The first studies tested several compounds. One of these, a nutritional supplement called creatine, is now being evaluated in a larger clinical trial to find out if it slows the clinical decline seen in people with Parkinson's disease. For more information on NET-PD trials visit: http://parkinsontrial.ninds.org.",NIHSeniorHealth,Parkinson's Disease +What is (are) Leukemia ?,"Leukemia is a cancer of the blood cells. It is the most common type of blood cancer and affects 10 times as many adults as children. Most people diagnosed with leukemia are over 50 years old. Leukemia Starts in Bone Marrow Leukemia usually begins in the bone marrow, the soft material in the center of most bones where blood cells are formed. The bone marrow makes three types of blood cells, and each type has a special function. - White blood cells fight infection and disease. - Red blood cells carry oxygen throughout the body. - Platelets help control bleeding by forming blood clots. White blood cells fight infection and disease. Red blood cells carry oxygen throughout the body. Platelets help control bleeding by forming blood clots. In people with leukemia, the bone marrow produces abnormal white blood cells, called leukemia cells. At first, leukemia cells function almost normally. But over time, as more leukemia cells are produced, they may crowd out the healthy white blood cells, red blood cells, and platelets. This makes it difficult for the blood to carry out its normal functions. There are four common types of adult leukemia. Two are chronic, meaning they get worse over a longer period of time. The other two are acute, meaning they get worse quickly. - chronic lymphocytic leukemia - chronic myeloid leukemia - acute myeloid leukemia - acute lymphocytic leukemia chronic lymphocytic leukemia chronic myeloid leukemia acute myeloid leukemia acute lymphocytic leukemia Chronic and Acute Leukemia Chronic lymphocytic leukemia, chronic myeloid leukemia, and acute myeloid leukemia are diagnosed more often in older adults. Of these, chronic lymphocytic leukemia is the most common. Acute lymphocytic leukemia is found more often in children. The symptoms for each type of leukemia differ but may include fevers, frequent infections, fatigue, swollen lymph nodes, weight loss, and bleeding and bruising easily. However, such symptoms are not sure signs of leukemia. An infection or another problem also could cause these symptoms. Only a doctor can diagnose and treat the problem. (Watch the video to learn how the rates of leukemia diagnosis vary by age. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about chronic lymphocytic leukemia. Learn more about acute myeloid leukemia. Other Cancers That Affect Blood Cells Myeloma and lymphoma are other types of cancer that affect blood cells, but these cancer cells are rarely found in the blood stream. Myeloma is the second most common form of blood cancer, and it affects plasma cells, a type of white blood cell that is found in the bone marrow. Lymphoma accounts for about five percent of all the types of cancer in the United States. It starts in the lymphatic system, which is part of the body's immune system. Both myeloma and lymphoma are more common among older adults and occur more often in men than women. Learn more about myeloma. Many Treatments Are Available There are many methods available to treat acute and chronic leukemia, and there are many new treatments being developed that are rapidly changing how numerous types of leukemia are treated. The types of treatments depend on the specific disease and how best to treat it. Some people receive a combination of treatments. Acute leukemia usually needs to be treated right away. But there are many different kinds of acute leukemia. Some respond well to treatment and can be cured in some cases, while others are more difficult to treat. Treatment for chronic leukemia can often control the disease and its symptoms and there are new treatments being developed that may prolong survival. Also, there are several treatments now available for chronic myeloid leukemia that can control the disease for a long time.",NIHSeniorHealth,Leukemia +Who is at risk for Leukemia? ?,"In many cases, no one knows why some people develop leukemia and others do not. However, scientists have identified some risk factors for the disease. A risk factor is anything that increases a person's chances of developing a disease. Most people who have known risk factors do not get leukemia, while many who do get the disease have none of these risk factors. Risk Factors Studies have identified the following risk factors for leukemia. - older age - male - white - working with certain chemicals - smoking - exposure to very high levels of radiation - certain health conditions - past treatment with chemotherapy or radiation therapy. older age male white working with certain chemicals smoking exposure to very high levels of radiation certain health conditions past treatment with chemotherapy or radiation therapy. More than 65 percent of people diagnosed with leukemia are over 55. Disorders and Genetic Diseases Certain disorders and genetic diseases, such as Down syndrome, may increase the risk of leukemia. About 3 out of 10 people with a blood disorder known as myelodysplastic syndrome develop acute myeloid leukemia. In this disorder, as in leukemia, abnormal cells are formed in the bone marrow and too few healthy blood cells enter the bloodstream. Radiation Exposure People exposed to very high levels of radiation, such as the atomic bomb blast in Hiroshima, Japan or nuclear power plant accidents, also are at risk of developing leukemia. Studies of atomic blasts have estimated that survivors have a five and a half times greater risk of developing leukemia than the general public. Cancer Treatments Chemotherapy and radiation therapy have been helpful to a lot of people in the treatment of many forms of cancer, and indeed are often lifesaving. However, these therapies have been linked to the development of second cancers, including leukemia, many years after treatment, particularly in people who received intensive therapy early in their lives. Chemotherapy for a first cancer is a stronger risk factor for developing leukemia later than is radiation therapy. The combination of chemotherapy and radiation can significantly increase the risk of leukemia after a first cancer. Powerful cancer-fighting chemotherapy drugs, known as alkylating agents and epipodophyllotoxins, have been associated with leukemia. The dose given and length of treatment as well as other factors may contribute to a person's risk of developing leukemia. Acute myeloid leukemia is the most common type of cancer that has been linked to chemotherapy treatment. Radiation therapy may increase a person's chance of developing leukemia. Several factors influence this risk, such as the dose of radiation administered. A person's age at the time of therapy does not seem to be a risk factor for leukemia. Recently, researchers have gained a much greater understanding of the risk of second cancers due to earlier treatment exposures. They have been able to limit the effective doses given in primary cases so as to reduce the risk of a recurrence or second cancer.",NIHSeniorHealth,Leukemia +What are the symptoms of Leukemia ?,"During the early stages of leukemia, there may be no symptoms. Many of the symptoms of leukemia don't become apparent until a large number of normal blood cells are crowded out by leukemia cells. Symptoms of Chronic and Acute Leukemia In chronic leukemia, symptoms develop gradually and, in the beginning, are generally not as severe as in acute leukemia. Chronic leukemia is usually found during a routine doctor's exam before symptoms are present. When symptoms appear, they generally are mild at first and gradually get worse, but sometimes they don't worsen until many years after an initial diagnosis. Recently, researchers discovered that abnormal white blood cells can be present in the blood of chronic lymphocytic leukemia patients a number of years before a diagnosis. This finding may lead to a better understanding of the cellular changes that occur in the earliest stages of the disease and how the disease progresses. In acute leukemia, symptoms usually appear and get worse quickly. People with this disease usually go to their doctor because they feel sick. White Blood Cell Levels May Be High People with leukemia may have very high levels of white blood cells, but because the cells are abnormal, they are unable to fight infection. Therefore, patients may develop frequent fevers or infections. A shortage of red blood cells, called anemia, can cause a person to feel tired. Not having enough blood platelets may cause a person to bleed and bruise easily. Some symptoms depend on where leukemia cells collect in the body. Leukemia cells can collect in many different tissues and organs, such as the digestive tract, kidneys, lungs, lymph nodes, or other parts of the body, including the eyes, brain, and testicles. Other Common Symptoms Other common symptoms of leukemia include headache, weight loss, pain in the bones or joints, swelling or discomfort in the abdomen (from an enlarged spleen), and swollen lymph nodes, especially in the neck or armpit. Symptoms of acute leukemia may include vomiting, confusion, loss of muscle control, and seizures. Some of the symptoms of leukemia are similar to those caused by the flu or other common diseases, so these symptoms are not sure signs of leukemia. It is important to check with your doctor if you have these symptoms. Only a doctor can diagnose and treat leukemia. Diagnosing Leukemia: Physical Exam, Blood Tests, Biopsy To find the cause of leukemia symptoms, the doctor will ask about medical history and conduct a physical exam. During the exam, the doctor will check for signs of disease such as lumps, swelling in the lymph nodes, spleen, and liver, or anything else that seems unusual. The doctor will need to do blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor also may look at certain factors in the blood to see if leukemia has affected other organs such as the liver or kidneys. Even if blood tests suggest leukemia, the doctor may look for signs of leukemia in the bone marrow by doing a biopsy before making a diagnosis. A biopsy is a procedure where a small amount of bone marrow is removed from a bone. A pathologist examines the sample under a microscope to look for abnormal cells. There are two ways the doctor can obtain bone marrow. In a bone marrow aspiration, marrow is collected by inserting a needle into the hipbone or another large bone and removing a small amount of bone marrow. A bone marrow biopsy is performed with a larger needle and removes bone marrow and a small piece of bone. If Leukemia Cells Are Found If leukemia cells are found in the bone marrow sample, the doctor may perform more tests to determine if the disease has spread to other parts of the body. The doctor may collect a sample of the fluid around the brain and spinal cord by performing a spinal tap and checking for leukemia cells or other signs of problems. Computed tomography (CT) scans, and ultrasounds are tests used to determine if leukemia has spread from the bone marrow. These tests produce pictures of the inside of the body. With these tests, the doctor looks for abnormalities such as enlarged organs or signs of infection.",NIHSeniorHealth,Leukemia +What are the treatments for Leukemia ?,"There are many treatment options for people with leukemia. The choice of treatment depends on your age and general health, the type of leukemia you have, whether or not it has spread outside the bone marrow, and other factors. If tests show that you have leukemia, you should talk with your doctor and make treatment decisions as soon as possible, although many patients with chronic lymphocytic leukemia do not require treatment for many years. Working With a Team of Specialists A team of specialists often treats people with leukemia. The team will keep the primary doctor informed about the patient's progress. The team may include a hematologist who is a specialist in blood and blood-forming tissues, a medical oncologist who is a specialist in cancer treatment, and a radiation oncologist who is a specialist in radiation therapy. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you or your doctor requests it. Clinical Trials for Leukemia Some leukemia patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective and better than current treatments. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to search for current clinical trials on leukemia.",NIHSeniorHealth,Leukemia +What are the treatments for Leukemia ?,"Unlike other types of cancer, leukemia isn't a tumor that your doctor can surgically remove. Leukemia cells are produced in the bone marrow and travel throughout the body. The Goal of Treatment The goal of treatment for leukemia is to destroy the leukemia cells and allow normal cells to form in the bone marrow. Depending on the type and extent of the disease, patients may have chemotherapy, biological therapy, radiation therapy, or stem cell transplantation. Some patients receive a combination of treatments. Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, whether leukemia cells are present in the fluid around the brain or spinal cord, and whether the leukemia has been treated before. It also may depend on certain features of the leukemia cells and the patient's symptoms. Acute Leukemia or Chronic Leukemia? If a person has acute leukemia, they will need treatment right away. The purpose of treatment is to stop the rapid growth of leukemia cells and to bring about remission, meaning the cancer is under control. In many cases, a person will continue treatment after signs and symptoms disappear to prevent the disease from coming back. Some people with acute leukemia can be cured. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia. Chronic leukemia may not need to be treated until symptoms appear. Treatment can often control the disease and its symptoms. Types of Treatments Some, but not all, forms of treatment for leukemia include - chemotherapy - biological therapy - radiation therapy. chemotherapy biological therapy radiation therapy. Chemotherapy Chemotherapy uses drugs to kill cancer cells. This a common treatment for some types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain. Biological Therapy Biological therapy uses special substances that improve the body's natural defenses against cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells. Monoclonal antibodies bind to the cells and assist the body in killing them. Although monoclonal antibodies are being used to treat leukemia, researchers are studying more innovative ways to use them in treatment. Some antibodies are used alone to try to prompt the immune system to attack leukemia cells. Other antibodies are attached to substances that can deliver poison to cancer cells. These modified antibodies, called immunotoxins, deliver the toxins directly to the cancer cells. Lately, precision medicine trials have shown evidence that single targeted therapies taken in pill form can prolong survival. Radiation Therapy Radiation therapy uses high-energy X-rays to destroy cancer cells. A machine outside the body directs high-energy beams at the spleen, the brain, or other parts of the body where leukemia cells have collected. Radiation therapy is used primarily to control disease in bones that are at risk of fracture or at sites that are causing pain.",NIHSeniorHealth,Leukemia +what research (or clinical trials) is being done for Leukemia ?,"Researchers are conducting clinical trials in many parts of the country. Clinical trials test an intervention such as a drug, therapy, medical device, or behavior in many people to see if it is safe and effective. Clinical trials already have led to advances, and researchers continue to search for more effective ways to treat and diagnose leukemia. They are studying various drugs, immunotherapy, targeted therapies, and other types of treatments. They are also studying the effectiveness of using combinations of treatments. Most importantly, researchers are gaining a greater understanding of the genes that are mutated in many types of leukemia and are developing targeted treatments to directly attack the mutations. One prime example is in acute myeloid leukemia (AML) where researchers have identified several genes that predict better or worse outcomes and are working to develop drugs targeted at these genes. Drug Research The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. Imatinib targets an abnormal protein that is present in most leukemia cells. By blocking the abnormal protein, imatinib kills the leukemia cells, but it does not kill normal cells. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are now used to treat people who stop responding to imatinib. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Immunotherapy Immunotherapy is a treatment that uses immune cells or antibodies to fight leukemia or stop it from getting worse. The idea is to zero in on leukemia cells so the treatment is less toxic to normal cells. Recently developed immunotherapies are showing real promise in a number of forms of leukemia. Vaccine Research Leukemia vaccines are not vaccines in the way that most people think of them. Unlike most vaccines, which help prevent diseases, leukemia vaccines are used to treat someone who already has cancer. A vaccine introduces a molecule called an antigen into the body. The immune system recognizes the antigen as a foreign invader and attacks it. Gene Therapy Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous. Learn more about ongoing leukemia research.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Cancer begins in cells, which make up the blood and other tissues. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process of creating a new cell goes wrong -- cells become abnormal and form more cells in an uncontrolled way.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. This makes it difficult for the blood to carry out its normal functions.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Acute leukemia gets worse quickly. In chronic leukemia, symptoms develop gradually and are generally not as severe as in acute leukemia.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"There are four common types of leukemia. They are chronic lymphocytic leukemia, chronic myeloid leukemia, acute myeloid leukemia, and acute lymphocytic leukemia. Chronic lymphocytic leukemia, chronic myeloid leukemia, and acute myeloid leukemia are diagnosed more often in older adults. Acute lymphocytic leukemia is found more often in children. (Watch the video to learn how the rates of leukemia diagnosis vary by age. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about chronic lymphocytic leukemia. Learn more about acute myeloid leukemia.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Myeloma and lymphoma are other types of blood cancers. Both are common among older adults and occur more often in men than women. Myeloma affects plasma cells, a type of white blood cells typically found in the bone marrow. Lymphoma starts in the lymphatic system, which is part of the body's immune system. Learn more about myeloma.",NIHSeniorHealth,Leukemia +Who is at risk for Leukemia? ?,"For the most part, no one knows why some people develop leukemia and others do not. Most people who have known risk factors do not get leukemia, while many who get the disease do not have any risk factors. Studies have identified the following risk factors for leukemia. - older age - male - white - working with certain chemicals - smoking - exposure to very high levels of radiation - certain health conditions - past treatment with chemotherapy or radiation therapy. older age male white working with certain chemicals smoking exposure to very high levels of radiation certain health conditions past treatment with chemotherapy or radiation therapy.",NIHSeniorHealth,Leukemia +What are the symptoms of Leukemia ?,"Common symptoms of leukemia may include - fevers - frequent infections - feeling weak or tired - headache - bleeding and bruising easily - pain in the bones or joints - swelling or discomfort in the abdomen (from an enlarged spleen) - swollen lymph nodes, especially in the neck or armpit - weight loss. fevers frequent infections feeling weak or tired headache bleeding and bruising easily pain in the bones or joints swelling or discomfort in the abdomen (from an enlarged spleen) swollen lymph nodes, especially in the neck or armpit weight loss. Symptoms of acute leukemia may include vomiting, confusion, loss of muscle control, and seizures.",NIHSeniorHealth,Leukemia +How to diagnose Leukemia ?,There are no standard or over-the-counter tests for leukemia. Your doctor can request lab analyses for leukemia that include blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor may also look for signs of leukemia in the bone marrow or the fluid around the brain or the spinal cord,NIHSeniorHealth,Leukemia +What are the treatments for Leukemia ?,"Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, where leukemia cells have collected in the body, and whether the leukemia has been treated before. Certain features of the leukemia cells and the patient's symptoms also may determine treatment options.",NIHSeniorHealth,Leukemia +What are the treatments for Leukemia ?,"Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Chemotherapy is a cancer treatment that uses drugs to kill cancer cells. This is the most common treatment for most types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,"Biological therapy is a treatment that uses a person's own immune system to fight leukemia. This therapy uses special substances to stimulate the immune system's ability to fight cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells and help the body kill them.",NIHSeniorHealth,Leukemia +What is (are) Leukemia ?,Radiation therapy is a cancer treatment that uses high-energy x-rays to destroy cancer cells. Some patients receive radiation treatment that is directed at the whole body.,NIHSeniorHealth,Leukemia +what research (or clinical trials) is being done for Leukemia ?,"Clinical trials are research studies in which new treatments -- drugs, diagnostics, procedures, vaccines, and other therapies -- are tested in people to see if they are safe, effective, and better than the current standard of care. Clinical trials often compare a new treatment with a standard treatment to determine which one gives better results. People with leukemia who are interested in taking part in a clinical trial should contact their doctor or go to www.clinical trials.gov and search ""leukemia.""",NIHSeniorHealth,Leukemia +What are the treatments for Leukemia ?,"Researchers are studying various drugs, immunotherapies, and other types of treatments. Because leukemia is a complicated disease, researchers are also studying the effectiveness of using combinations of treatments. Following are a few examples of some areas of current research. The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are being used to treat people who stop responding to imatinib. Both are approved by the FDA for use in patients. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous. Learn more about ongoing leukemia research.",NIHSeniorHealth,Leukemia +What is (are) Lung Cancer ?,"How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong and cells become abnormal, forming more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. Lung cancer occurs when a tumor forms in the tissue of the lung. The Leading Cause of Cancer Death Lung cancer is the leading cause of cancer death in men and women in the United States. Experts estimate that over 200,000 new cases of lung cancer will be diagnosed each year slightly more cases in men than women. Over 150,000 Americans die of the disease each year. Lung cancer occurs most often between the ages of 55 and 65. (Watch the videos on this page to learn more about lung cancer. To enlarge the videos, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Two Major Types of Lung Cancer There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. - Non-small cell lung cancer is more common than small cell lung cancer. - Small cell lung cancer grows more quickly and is more likely to spread to other organs in the body. Non-small cell lung cancer is more common than small cell lung cancer. Small cell lung cancer grows more quickly and is more likely to spread to other organs in the body. Learn more about non-small cell lung cancer. Learn more about small cell lung cancer. Lung Cancer Can Spread Lung cancer may spread to the lymph nodes or other tissues in the chest, including the lung opposite to where it originated. It may also spread to other organs of the body, such as the bones, brain, or liver. When cancer spreads from its original location in the lung to another part of the body such as the brain, it is called metastatic lung cancer, not brain cancer. Doctors sometimes call this distant disease. Smoking and Lung Cancer Lung cancer would occur much less often if people did not smoke. The good news is that smoking is not as popular as it used to be. In 1965 about 42 percent of all adults smoked, but as of 2012, slightly less than 17 percent of people 18 and older smoked cigarettes. Also, since the 1990s there has been a steady drop in lung cancer deaths among men, mainly because fewer men are smoking, and since the turn of the century, lung cancer deaths in women have been slowly declining. Cigarette smoking rates had been dropping steadily in the 1990s and had started to level off at the start of the 21st century but the latest figures show a continued decline. The bad news is that other forms of tobacco use have shown some revival, but mainly in younger populations. The bad news is that smoking rates, which were dropping, have stopped declining in recent years. Smoking by young adults actually increased by 73 percent in the 1990s but has shown a downturn or leveling off in the past few years.",NIHSeniorHealth,Lung Cancer +What causes Lung Cancer ?,"Tobacco Products and Cancer Using tobacco products has been shown to cause cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to secondhand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year. Cigarette Smoking Causes Lung Cancer Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. Before cigarette smoking became popular after World War I, doctors rarely, if ever, saw patients with lung cancer. But today, lung cancer is the leading cause of death by cancer. Over 85 percent of people with lung cancer developed it because they smoked cigarettes. If You Smoke If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Lung cancer can affect young and old alike. Stopping smoking greatly reduces your risk for developing lung cancer. After you stop, your risk levels off. Ten years after the last cigarette, the risk of dying from lung cancer drops by 50 percent -- which does not mean, however, that risk is eliminated. (Watch the videos on this page to learn more about lung cancer, smoking and older adults. To enlarge the videos, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Smoking cigars and pipes also puts you at risk for lung cancer. Cigar and pipe smokers have a higher risk of lung cancer than nonsmokers. Even cigar and pipe smokers who do not inhale are at increased risk for lung, mouth, and other types of cancer. The likelihood that a smoker will develop lung cancer is related to the age smoking began; how long the person smoked; the number of cigarettes, pipes, or cigars smoked per day; and how deeply the smoker inhaled. Learn about lung cancer prevention. Other Factors That Increase Your Risk - Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. - Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes. - Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer. Many studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. Exposure to radon can put a person at risk for lung cancer, too. People who work in mines may be exposed to this invisible, odorless, and radioactive gas that occurs naturally in soil and rocks. It is also found in houses in some parts of the country. A kit available at most hardware stores allows homeowners to measure radon levels in their homes. Another substance that can contribute to lung cancer is asbestos. Asbestos has been used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, although products with asbestos have been largely phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer. It's Never Too Late To Quit Researchers continue to study the causes of lung cancer and to search for ways to prevent it. We already know that the best way to prevent lung cancer is to quit or never start smoking. The sooner a person quits smoking the better. Even if you have been smoking for many years, it's never too late to benefit from quitting. Get Free Help To Quit Smoking - Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). Each U.S. state and territory has a free quit line to provide you with information and resources to help you quit smoking. To reach the quit line in your area, dial toll-free, 1-800-QUIT-NOW (1-800-784-8669). - Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) Talk with a smoking cessation counselor from the National Cancer Institute (NCI) for help quitting and for answers to smoking-related questions in English or Spanish. Call toll free within the United States, Monday through Friday 8:00 a.m. to 8:00 p.m. Eastern Time.1-877-44U-QUIT (1-877-448-7848) - Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. Get free information and advice about quitting smoking through a confidential online text chat with an information specialist from the National Cancer Institute's Cancer Information Service. Visit LiveHelp, available Monday through Friday, 8:00 a.m. to 11:00 p.m. Eastern Time. You can also get help to quit smoking at these websites. - Smokefree.gov. - Smokefree Women Smokefree.gov. Smokefree Women For adults 50 and older, check out Quitting Smoking for Older Adults.",NIHSeniorHealth,Lung Cancer +What are the symptoms of Lung Cancer ?,"Common Signs and Symptoms When lung cancer first develops, there may be no symptoms at all. But if the cancer grows, it can cause changes that people should watch for. Common signs and symptoms of lung cancer include: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. a cough that doesn't go away and gets worse over time constant chest pain coughing up blood shortness of breath, wheezing, or hoarseness repeated problems with pneumonia or bronchitis swelling of the neck and face loss of appetite or weight loss fatigue. These symptoms may be caused by lung cancer or by other conditions. It is important to check with a doctor if you have symptoms because only a doctor can make a diagnosis. Don't wait to feel pain. Early cancer usually doesn't cause pain. Tests for Lung Cancer To better understand a persons chance of developing lung cancer, a doctor first evaluates a person's medical history, smoking history, their exposure to environmental and occupational substances, and family history of cancer. The doctor also performs a physical exam and may order a test to take an image of the chest or other tests. Seeing a spot on an image is usually how a doctor first suspects that lung cancer may be present. If lung cancer is suspected, the doctor may order a test called sputum cytology. This is a simple test where, under a microscope, a doctor examines a sample of mucous cells coughed up from the lungs under a microscope to see if cancer is present. Biopsies to Detect Lung Cancer But to confirm the presence of lung cancer, the doctor must examine fluid or tissue from the lung. This is done through a biopsy -- the removal of a small sample of fluid or tissue for examination under a microscope by a pathologist. A biopsy can show whether a person has cancer. A number of procedures may be used to obtain this tissue. - Bronchoscopy -- The doctor puts a bronchoscope -- a thin, lighted tube -- into the mouth or nose and down through the windpipe to look into the breathing passages. Through this tube, the doctor can collect cells or small samples of tissue. - Needle Aspiration -- The doctor numbs the chest area and inserts a thin needle into the tumor to remove a sample of tissue. - Thoracentesis - Using a needle, the doctor removes a sample of the fluid that surrounds the lungs to check for cancer cells. - Thorascopy or Thoracotomy -- Surgery to open the chest is sometimes needed to diagnose lung cancer. This procedure is a major operation performed in a hospital. Bronchoscopy -- The doctor puts a bronchoscope -- a thin, lighted tube -- into the mouth or nose and down through the windpipe to look into the breathing passages. Through this tube, the doctor can collect cells or small samples of tissue. Needle Aspiration -- The doctor numbs the chest area and inserts a thin needle into the tumor to remove a sample of tissue. Thoracentesis - Using a needle, the doctor removes a sample of the fluid that surrounds the lungs to check for cancer cells. Thorascopy or Thoracotomy -- Surgery to open the chest is sometimes needed to diagnose lung cancer. This procedure is a major operation performed in a hospital. Other Tests Doctors use imaging methods such as a spiral CT scan (also commonly known as helical CT) to look for signs of cancer. A CT scan, also known as computerized tomography scan, is a series of detailed pictures of areas inside the body. Other tests can include removal of lymph nodes for examination under a microscope to check for cancer cells. Lymph nodes are small, bean-shaped structures found throughout the body. They filter substances in a fluid called lymph and help fight infection and disease.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"There are many treatment options for lung cancer, mainly based on the extent of the disease. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the lung, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, a thoracic surgeon who is a specialist in operating on organs in the chest, including the lungs, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Lung Cancer Some lung cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. People with lung cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on lung cancer. A separate window will open. Click the ""x"" in the upper right hand corner of the ""Clinical Trials"" window to return here.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"The choice of treatment depends on the type of lung cancer, whether it is non-small or small cell lung cancer, the size, location, the stage of the cancer, and the patient's general health. Doctors may suggest many different treatments or combinations of treatments to control the cancer and/or improve the patient's quality of life. What Standard Treatments Do Here are some of the most common treatments for lung cancer. - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung. - Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung. Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Treating Non-Small Cell Lung Cancer Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms. See more information about treatments for non-small cell lung cancer. Treating Small Cell Lung Cancer Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed. In order to reach cancer cells throughout the body, doctors almost always use chemotherapy. Treatment for small cell lung cancer may also include radiation therapy aimed at the tumor in the lung or tumors in other parts of the body, such as in the brain. Surgery is part of the treatment plan for a small number of patients with small cell lung cancer. Some patients with small cell lung cancer have radiation therapy to the brain even though no cancer is found there. This treatment, called prophylactic cranial irradiation or PCI, is given to prevent tumors from forming in the brain. See more information about treatments for small cell lung cancer.",NIHSeniorHealth,Lung Cancer +what research (or clinical trials) is being done for Lung Cancer ?,"Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Today, some of the most promising treatment approaches incorporate precision medicine. This approach first looks to see what genes may be mutated that are causing the cancer, and once these genes are identified, specific drugs may be available that target the mutations and treat the cancer directly without the harsh side-effects often found with conventional chemotherapy. Researchers are also constantly trying to come up with new ways to find and diagnose lung cancer in order to catch it and treat it in its earliest stages. The National Lung Screening Trial, or NLST, showed conclusively that spiral CT reduced the risk of dying by 20 percent compared to those who received a chest x-ray among heavy smokers Get more information on current lung cancer research.",NIHSeniorHealth,Lung Cancer +What is (are) Lung Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, meaning not cancerous, or malignant, meaning cancerous.",NIHSeniorHealth,Lung Cancer +What is (are) Lung Cancer ?,"Lung cancer occurs when malignant tumors form in the tissue of the lung. The lungs are a pair of sponge-like organs. The right lung has three sections, called lobes, and is larger than the left lung, which has two lobes.",NIHSeniorHealth,Lung Cancer +What is (are) Lung Cancer ?,"There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. Non-small cell lung cancer is more common than small cell lung cancer. It generally grows and spreads slowly. Learn more about non-small cell carcinoma. Small cell lung cancer, sometimes called oat cell cancer, grows more quickly and is more likely to spread to other organs in the body. Learn more about small cell carcinoma.",NIHSeniorHealth,Lung Cancer +What causes Lung Cancer ?,"Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. Before cigarette smoking became popular after World War I, doctors rarely, if ever, saw patients with lung cancer. But today, lung cancer is the leading cause of death by cancer. Over 85 percent of people with lung cancer developed it because they smoked cigarettes. Using tobacco products has been shown to cause many types of cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to second-hand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year.",NIHSeniorHealth,Lung Cancer +Who is at risk for Lung Cancer? ?,"Risk factors that increase your chance of getting lung cancer include - cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer - secondhand smoke - family history - HIV infection - environmental risk factors - beta carotene supplements in heavy smokers. cigarette, cigar, and pipe smoking, which account for well over half of all cases of lung cancer secondhand smoke family history HIV infection environmental risk factors beta carotene supplements in heavy smokers.",NIHSeniorHealth,Lung Cancer +Who is at risk for Lung Cancer? ?,"If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Stopping smoking greatly reduces your risk for developing lung cancer. But after you stop, the risk goes down slowly. Ten years after the last cigarette, the risk of dying from lung cancer drops by 50 percent. Each U.S. state and territory has a free quitline to provide you with information and resources to help you quit smoking. To reach the quitline in your area, dial toll-free, 1-800-QUIT-NOW. (Watch the video to learn about the effect smoking can have on an older adult's health. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Lung Cancer +What causes Lung Cancer ?,"Some studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. Learn more about the effects of secondhand smoke. Learn more about the chemicals found in cigarettes.",NIHSeniorHealth,Lung Cancer +Who is at risk for Lung Cancer? ?,"Quitting smoking not only cuts the risk of lung cancer, it cuts the risks of many other cancers as well as heart disease, stroke, other lung diseases, and other respiratory illnesses. Each U.S. state and territory has a free quitline to provide you with information and resources to help you quit smoking. To reach the quitline in your area, dial toll-free, 1-800-QUIT-NOW. (Watch the video to learn about the benefits of quitting smoking when you're older. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about the effects of smoking on your health.",NIHSeniorHealth,Lung Cancer +Who is at risk for Lung Cancer? ?,"Another substance that can contribute to lung cancer is asbestos. Asbestos is used in shipbuilding, asbestos mining and manufacturing, insulation work, and brake repair, but many products that contain asbestos have been phased out over the past several decades. If inhaled, asbestos particles can lodge in the lungs, damaging cells and increasing the risk for lung cancer.",NIHSeniorHealth,Lung Cancer +What are the symptoms of Lung Cancer ?,"The possible signs of lung cancer are: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. a cough that doesn't go away and gets worse over time constant chest pain coughing up blood shortness of breath, wheezing, or hoarseness repeated problems with pneumonia or bronchitis swelling of the neck and face loss of appetite or weight loss fatigue.",NIHSeniorHealth,Lung Cancer +What is (are) Lung Cancer ?,"A person who has had lung cancer once is more likely to develop a second lung cancer compared to a person who has never had lung cancer. Second cancers arise in a different site than the original cancer. If the original cancer returns after treatment, it is considered recurrent, not a second cancer. Quitting smoking after lung cancer is diagnosed may prevent the development of a second lung cancer.",NIHSeniorHealth,Lung Cancer +How to diagnose Lung Cancer ?,"Doctors can perform several tests to stage lung cancer. Staging means finding out how far the cancer has progressed. The following tests are used to stage lung cancer: - Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. - Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. - Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. - A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. - A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure. A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"- Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. - Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms. See more on treatments for non-small cell lung cancer.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed, so chemotherapy is usually the best choice. See more on treatments for small cell lung cancer.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Targeted therapy, using drugs that go directly to a gene mutation and repair or block the mutation from causing cancer, are the current gold standard for treating some types of lung cancer. Get more information on current lung cancer research.",NIHSeniorHealth,Lung Cancer +What are the treatments for Lung Cancer ?,"Researchers are working to develop drugs called ""molecularly targeted agents"" which kill cancer cells by targeting key molecules involved in cancer cell growth.",NIHSeniorHealth,Lung Cancer +What is (are) Urinary Incontinence ?,"Urinary incontinence means a person leaks urine by accident. Urinary incontinence is a common bladder problem as people age. Women are more likely than men to leak urine. If this problem is happening to you, there is help. Urinary incontinence can often be controlled. Talk to your health care provider about what you can do. Types of Urinary Incontinence There are different types of urinary incontinence. - Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. It may begin around the time of menopause. Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. It may begin around the time of menopause. - Urgency urinary incontinence happens when people have a sudden need to urinate and arent able to hold their urine long enough to get to the toilet. Urgency urinary incontinence happens when people have a sudden need to urinate and arent able to hold their urine long enough to get to the toilet. - Mixed urinary incontinence is a mix of stress and urgency urinary incontinence. You may leak urine with a laugh or sneeze at one time. At another time, you may leak urine because you have a sudden urge to urinate that you cannot control. Mixed urinary incontinence is a mix of stress and urgency urinary incontinence. You may leak urine with a laugh or sneeze at one time. At another time, you may leak urine because you have a sudden urge to urinate that you cannot control. - Overflow urinary incontinence happens when small amounts of urine leak from a bladder that is always full. A man can have trouble emptying his bladder if an enlarged prostate is blocking the urethra. Diabetes and spinal cord injury can also cause this type of urinary incontinence. Overflow urinary incontinence happens when small amounts of urine leak from a bladder that is always full. A man can have trouble emptying his bladder if an enlarged prostate is blocking the urethra. Diabetes and spinal cord injury can also cause this type of urinary incontinence. - Functional urinary incontinence occurs in many older people who have a problem getting to the toilet in time. They may not make it in time because of arthritis or other disorders that make it hard to move quickly. Functional urinary incontinence occurs in many older people who have a problem getting to the toilet in time. They may not make it in time because of arthritis or other disorders that make it hard to move quickly.",NIHSeniorHealth,Urinary Incontinence +What causes Urinary Incontinence ?,"Why Does Urine Leak? The body stores urine in the bladder, which is a hollow organ, much like a balloon. During urination, muscles in the bladder tighten to move urine into a tube called the urethra. At the same time, the muscles around the urethra relax and let the urine pass out of the body. When the muscles in and around the bladder dont work the way they should, urine can leak. Short Periods of Leaking Sometimes urinary incontinence happens for a little while. Short periods of leaking urine can happen because of - urinary tract infections - constipation - some medicines. urinary tract infections constipation some medicines. Longer Periods of Leaking When leaking urine lasts longer, it may be due to - weak bladder muscles - weak pelvic floor muscles - overactive bladder muscles - damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease - blockage from an enlarged prostate in men - diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. weak bladder muscles weak pelvic floor muscles overactive bladder muscles damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease blockage from an enlarged prostate in men diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. (Watch the video to learn how aging affects the bladder. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Urinary Incontinence +How to diagnose Urinary Incontinence ?,"The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests - tests that measure how well you empty your bladderusually by ultrasound. urine tests tests that measure how well you empty your bladderusually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, doctors who specialize in urinary tract problems Get tips on choosing a health care provider. (Watch the video above to learn more about what to expect when seeking care for a bladder problem. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Urinary Incontinence +What are the treatments for Urinary Incontinence ?,"Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Types of Treatments If lifestyle changes and bladder training dont help, your health care provider may suggest medical treatments. Medical treatments may include the following. - Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. - Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). - Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. - Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing. Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing.",NIHSeniorHealth,Urinary Incontinence +What is (are) Urinary Incontinence ?,"Urinary incontinence means a person leaks urine by accident. Urinary incontinence is a common bladder problem as people age. Women are more likely than men to leak urine. If this problem is happening to you, there is help. Urinary incontinence can often be controlled. Talk to your health care provider about what you can do. Learn about urinary incontinence in women. Learn about urinary incontinence in men.",NIHSeniorHealth,Urinary Incontinence +What is (are) Urinary Incontinence ?,"There are different types of urinary incontinence. Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. It may begin around the time of menopause. Urgency urinary incontinence happens when people have a sudden need to urinate and arent able to hold their urine long enough to get to the toilet. Mixed urinary incontinence is a mix of stress and urgency urinary incontinence. You may leak urine with a laugh or sneeze at one time. At another time, you may leak urine because you have a sudden urge to urinate that you cannot control. Overflow urinary incontinence happens when small amounts of urine leak from a bladder that is always full. A man can have trouble emptying his bladder if an enlarged prostate is blocking the urethra. Diabetes and spinal cord injury can also cause this type of urinary incontinence. Functional urinary incontinence occurs in many older people who have a problem getting to the toilet in time. They may not make it in time because of arthritis or other disorders that make it hard to move quickly. Learn about urinary incontinence in men. Learn about urinary incontinence in women.",NIHSeniorHealth,Urinary Incontinence +What causes Urinary Incontinence ?,"Leaking urine can happen for many reasons. Sometimes urinary incontinence happens for a little while. Short periods of leaking urine can happen because of - urinary tract infections - constipation - some medicines. urinary tract infections constipation some medicines. When leaking urine lasts longer, it may be due to - weak bladder muscles - weak pelvic floor muscles - overactive bladder muscles - damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease - blockage from an enlarged prostate in men - diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time - pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. weak bladder muscles weak pelvic floor muscles overactive bladder muscles damage to nerves that control the bladder from diseases such as multiple sclerosis or Parkinsons disease blockage from an enlarged prostate in men diseases or conditions, such as arthritis, that may make it difficult to get to the bathroom in time pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal place into the vagina. When pelvic organs are out of place, the bladder and urethra are not able to work normally, which may cause urine to leak. Learn more about urinary incontinence in men. Learn more about urinary incontinence in women.",NIHSeniorHealth,Urinary Incontinence +How to diagnose Urinary Incontinence ?,"The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests - tests that measure how well you empty your bladder, usually by ultrasound. urine tests tests that measure how well you empty your bladder, usually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, a doctor who specializes in urinary tract problems. Learn more about how urinary incontinence is diagnosed in men and women.",NIHSeniorHealth,Urinary Incontinence +What are the treatments for Urinary Incontinence ?,"Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Treatment may include - bladder control training, such as pelvic floor muscle exercises and timed voiding bladder control training, such as pelvic floor muscle exercises and timed voiding - lifestyle changes such as drinking the right amount of fluids, choosing water over other fluids, eating and drinking less caffeine, drinking less alcohol, limiting drinks before bedtime, keeping a healthy weight, and trying not to get constipated lifestyle changes such as drinking the right amount of fluids, choosing water over other fluids, eating and drinking less caffeine, drinking less alcohol, limiting drinks before bedtime, keeping a healthy weight, and trying not to get constipated - medicines, medical devices, nerve stimulation, and surgery, if lifestyle changes and bladder training dont help. medicines, medical devices, nerve stimulation, and surgery, if lifestyle changes and bladder training dont help. Learn more about how urinary incontinence is treated in men. Learn more about how urinary incontinence is treated in women.",NIHSeniorHealth,Urinary Incontinence +What are the treatments for Urinary Incontinence ?,"Even after treatment, some people still leak urine from time to time. There are products that can help you cope with leaking urine. These products may make leaking urine bother you a little less. - Pads. You can wear disposable pads in your underwear to absorb urine when it leaks and keep your clothes from getting wet. Pads. You can wear disposable pads in your underwear to absorb urine when it leaks and keep your clothes from getting wet. - Adult diapers. If you leak large amounts of urine, you can wear an adult diaper to keep your clothes dry. You can choose disposable adult diapers, which you wear once and throw away. Or you can choose washable adult diapers, which you can reuse after washing. Adult diapers. If you leak large amounts of urine, you can wear an adult diaper to keep your clothes dry. You can choose disposable adult diapers, which you wear once and throw away. Or you can choose washable adult diapers, which you can reuse after washing. - Protective underwear. Special kinds of underwear can help keep clothes from getting wet. Some kinds of underwear have a waterproof crotch with room for a pad or liner. Others use a waterproof fabric to keep your skin dry. Protective underwear. Special kinds of underwear can help keep clothes from getting wet. Some kinds of underwear have a waterproof crotch with room for a pad or liner. Others use a waterproof fabric to keep your skin dry. - Furniture pads. Pads can be used to protect chairs and beds from leaking urine. Some pads should be used once and thrown away. Other cloth pads can be washed and reused. Furniture pads. Pads can be used to protect chairs and beds from leaking urine. Some pads should be used once and thrown away. Other cloth pads can be washed and reused. - Special skin cleaners and creams. Urine can bother the skin if it stays on the skin for a long time. Special skin cleaners and creams are available for people who leak urine. Skin cleaners and creams may help the skin around your urethra from becoming irritated. Creams can help keep urine away from your skin. Special skin cleaners and creams. Urine can bother the skin if it stays on the skin for a long time. Special skin cleaners and creams are available for people who leak urine. Skin cleaners and creams may help the skin around your urethra from becoming irritated. Creams can help keep urine away from your skin. - Deodorizing pills. Deodorizing pills may make your urine smell less strongly. This way, if you do leak, it may be less noticeable. Ask your health care provider about deodorizing pills. Deodorizing pills. Deodorizing pills may make your urine smell less strongly. This way, if you do leak, it may be less noticeable. Ask your health care provider about deodorizing pills.",NIHSeniorHealth,Urinary Incontinence +What is (are) Stroke ?,"Stroke -- A Serious Event A stroke is serious, just like a heart attack. Each year in the United States, approximately 795,000 people have a stroke. About 610,000 of these are first or new strokes. On average, one American dies from stroke every four minutes. Stroke is the fourth leading cause of death in the United States, and causes more serious long-term disabilities than any other disease. Nearly three-quarters of all strokes occur in people over the age of 65. And the risk of having a stroke more than doubles each decade between the ages of 55 and 85. Stroke occurs in all age groups, in both sexes, and in all races in every country. It can even occur before birth, when the fetus is still in the womb. Learning about stroke can help you act in time to save a relative, neighbor, or friend. And making changes in your lifestyle can help you prevent stroke. What Is Stroke? A stroke is sometimes called a ""brain attack."" Most often, stroke occurs when blood flow to the brain stops because it is blocked by a clot. When this happens, the brain cells in the immediate area begin to die. Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment, these cells can be saved. New treatments are available that greatly reduce the damage caused by a stroke. But you need to arrive at the hospital as soon as possible after symptoms start to prevent disability and to greatly improve your chances for recovery. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical. Ischemic Stroke There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel supplying blood to the brain. Blockages that cause ischemic strokes stem from three conditions: - the formation of a clot within a blood vessel of the brain or neck, called thrombosis - the movement of a clot from another part of the body, such as from the heart to the neck or brain, called an embolism - a severe narrowing of an artery (stenosis) in or leading to the brain, due to fatty deposits lining the blood vessel walls. the formation of a clot within a blood vessel of the brain or neck, called thrombosis the movement of a clot from another part of the body, such as from the heart to the neck or brain, called an embolism a severe narrowing of an artery (stenosis) in or leading to the brain, due to fatty deposits lining the blood vessel walls. Hemorrhagic Stroke The other kind of stroke is called hemorrhagic stroke. A hemorrhagic stroke is caused by a blood vessel that breaks and bleeds into the brain. One common cause of a hemorrhagic stroke is a bleeding aneurysm. An aneurysm is a weak or thin spot on an artery wall. Over time, these weak spots stretch or balloon out due to high blood pressure. The thin walls of these ballooning aneurysms can rupture and spill blood into the space surrounding brain cells. Artery walls can also break open because they become encrusted, or covered with fatty deposits called plaque, eventually lose their elasticity and become brittle, thin, and prone to cracking. Hypertension, or high blood pressure, increases the risk that a brittle artery wall will give way and release blood into the surrounding brain tissue.",NIHSeniorHealth,Stroke +What are the symptoms of Stroke ?,"Know the Signs Knowing the warning signs of stroke and controlling stroke's risk factors can lower your risk of death or disability. If you suffer a stroke, you may not realize it at first. The people around you might not know it, either. Your family, friends, or neighbors may think you are unaware or confused. You may not be able to call 911 on your own. That's why everyone should know the signs of stroke and know how to act fast. Warning signs are clues your body sends to tell you that your brain is not receiving enough oxygen. If you observe one or more of the following signs of a stroke or ""brain attack,"" don't wait. Call 911 right away! Common Signs of Stroke These are warning signs of a stroke: - sudden numbness or weakness of the face, arm, or leg, especially on one side of the body - sudden confusion, trouble speaking or understanding - sudden trouble seeing in one or both eyes - sudden trouble walking, dizziness, loss of balance or coordination - sudden severe headache with no known cause. sudden numbness or weakness of the face, arm, or leg, especially on one side of the body sudden confusion, trouble speaking or understanding sudden trouble seeing in one or both eyes sudden trouble walking, dizziness, loss of balance or coordination sudden severe headache with no known cause. Other danger signs that may occur include double vision, drowsiness, and nausea or vomiting. Don't Ignore ""Mini-Strokes"" Sometimes the warning signs of stroke may last only a few moments and then disappear. These brief episodes, known as transient ischemic attacks or TIAs, are sometimes called ""mini-strokes."" Although brief, TIAs identify an underlying serious condition that isn't going away without medical help. Unfortunately, since they clear up, many people ignore them. Don't ignore them. Heeding them can save your life. Why It's Important To Act Fast Stroke is a medical emergency. Every minute counts when someone is having a stroke. The longer blood flow is cut off to the brain, the greater the damage. Immediate treatment can save peoples lives and enhance their chances for successful recovery. Ischemic strokes, the most common type of strokes, can be treated with a drug called t-PA that dissolves blood clots obstructing blood flow to the brain. The window of opportunity to start treating stroke patients is three hours, but to be evaluated and receive treatment, patients need to get to the hospital within 60 minutes. What Should You Do? Don't wait for the symptoms of stroke to improve or worsen. If you believe you are having a stroke, call 911 immediately. Making the decision to call for medical help can make the difference in avoiding a lifelong disability and in greatly improving your chances for recovery. If you observe someone having a stroke if he or she suddenly loses the ability to speak, or move an arm or leg on one side, or experiences facial paralysis on one side call 911 immediately.",NIHSeniorHealth,Stroke +Who is at risk for Stroke? ?,"A risk factor is a condition or behavior that increases your chances of getting a disease. Having a risk factor for stroke doesn't mean you'll have a stroke. On the other hand, not having a risk factor doesn't mean you'll avoid a stroke. But your risk of stroke grows as the number and severity of risk factors increase. These risk factors for stroke cannot be changed by medical treatment or lifestyle changes. - Age. Although stroke risk increases with age, stroke can occur at any age. Recent studies have found that stroke rates among people under 55 grew from 13 percent in 1993-1994, to 19 percent in 2005. Experts speculate the increase may be due to a rise in risk factors such as diabetes, obesity, and high cholesterol. Age. Although stroke risk increases with age, stroke can occur at any age. Recent studies have found that stroke rates among people under 55 grew from 13 percent in 1993-1994, to 19 percent in 2005. Experts speculate the increase may be due to a rise in risk factors such as diabetes, obesity, and high cholesterol. - Gender. Men have a higher risk for stroke, but more women die from stroke. Gender. Men have a higher risk for stroke, but more women die from stroke. - Race. People from certain ethnic groups have a higher risk of stroke. For African Americans, stroke is more common and more deadly even in young and middle-aged adults than for any ethnic or other racial group in the U.S. Studies show that the age-adjusted incidence of stroke is about twice as high in African Americans and Hispanic Americans as in Caucasians. An important risk factor for African Americans is sickle cell disease, which can cause a narrowing of arteries and disrupt blood flow. Race. People from certain ethnic groups have a higher risk of stroke. For African Americans, stroke is more common and more deadly even in young and middle-aged adults than for any ethnic or other racial group in the U.S. Studies show that the age-adjusted incidence of stroke is about twice as high in African Americans and Hispanic Americans as in Caucasians. An important risk factor for African Americans is sickle cell disease, which can cause a narrowing of arteries and disrupt blood flow. - Family history of stroke. Stroke seems to run in some families. Several factors may contribute to familial stroke. Members of a family might have a genetic tendency for stroke risk factors, such as an inherited predisposition for high blood pressure (hypertension) or diabetes. The influence of a common lifestyle among family members could also contribute to familial stroke. Family history of stroke. Stroke seems to run in some families. Several factors may contribute to familial stroke. Members of a family might have a genetic tendency for stroke risk factors, such as an inherited predisposition for high blood pressure (hypertension) or diabetes. The influence of a common lifestyle among family members could also contribute to familial stroke. Some of the most important risk factors for stroke that CAN be treated are - high blood pressure - smoking - heart disease - high blood cholesterol - warning signs or history of a stroke - diabetes. high blood pressure smoking heart disease high blood cholesterol warning signs or history of a stroke diabetes. High Blood Pressure High blood pressure, also called hypertension, is by far the most potent risk factor for stroke. If your blood pressure is high, you and your doctor need to work out an individual strategy to bring it down to the normal range. Here are some ways to reduce blood pressure: - Maintain proper weight. - Avoid drugs known to raise blood pressure. - Cut down on salt. - Eat fruits and vegetables to increase potassium in your diet. - Exercise more. Maintain proper weight. Avoid drugs known to raise blood pressure. Cut down on salt. Eat fruits and vegetables to increase potassium in your diet. Exercise more. Your doctor may prescribe medicines that help lower blood pressure. Controlling blood pressure will also help you avoid heart disease, diabetes, and kidney failure. Smoking Cigarette smoking has been linked to the buildup of fatty substances in the carotid artery, the main neck artery supplying blood to the brain. Blockage of this artery is the leading cause of stroke in Americans. Also, nicotine raises blood pressure, carbon monoxide reduces the amount of oxygen your blood can carry to the brain, and cigarette smoke makes your blood thicker and more likely to clot. Your doctor can recommend programs and medications that may help you quit smoking. By quitting -- at any age -- you also reduce your risk of lung disease, heart disease, and a number of cancers including lung cancer. Heart Disease Heart disease, including common heart disorders such as coronary artery disease, valve defects, irregular heart beat, and enlargement of one of the heart's chambers, can result in blood clots that may break loose and block vessels in or leading to the brain. The most common blood vessel disease, caused by the buildup of fatty deposits in the arteries, is called atherosclerosis, also known as hardening of the arteries. Your doctor will treat your heart disease and may also prescribe medication, such as aspirin, to help prevent the formation of clots. Your doctor may recommend surgery to clean out a clogged neck artery if you match a particular risk profile. High Blood Cholesterol A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Your doctor may recommend changes in your diet or medicines to lower your cholesterol. Warning Signs or History of Stroke Experiencing warning signs and having a history of stroke are also risk factors for stroke. Transient ischemic attacks, or TIAs, are brief episodes of stroke warning signs that may last only a few moments and then go away. If you experience a TIA, get help at once. Call 911. If you have had a stroke in the past, it's important to reduce your risk of a second stroke. Your brain helps you recover from a stroke by drawing on body systems that now do double duty. That means a second stroke can be twice as bad. Diabetes Having diabetes is another risk factor for stroke. You may think this disorder affects only the body's ability to use sugar, or glucose. But it also causes destructive changes in the blood vessels throughout the body, including the brain. Also, if blood glucose levels are high at the time of a stroke, then brain damage is usually more severe and extensive than when blood glucose is well-controlled. Treating diabetes can delay the onset of complications that increase the risk of stroke.",NIHSeniorHealth,Stroke +How to prevent Stroke ?,"Stroke is preventable and treatable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. Preventing Stroke While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. - If you smoke, quit. - If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. - If you are overweight, start maintaining a healthy diet and exercising regularly. - If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. If you have high blood pressure, work with your doctor to get it under control. If you smoke, quit. If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. If you are overweight, start maintaining a healthy diet and exercising regularly. If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Diagnosing Stroke Physicians have several diagnostic techniques and imaging tools to help diagnose stroke quickly and accurately. The first step in diagnosis is a short neurological examination, or an evaluation of the nervous system. When a possible stroke patient arrives at a hospital, a health care professional, usually a doctor or nurse, will ask the patient or a companion what happened and when the symptoms began. Blood tests, an electrocardiogram, and a brain scan such as computed tomography or CT, or magnetic resonance imaging or MRI, will often be done. Measuring Stroke Severity One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. Other scales include the Glasgow Coma Scale, the Hunt and Hess Scale, the Modified Rankin Scale, and the Barthel Index. Diagnostic Imaging: CT Scan Health care professionals also use a variety of imaging techniques to evaluate acute stroke patients. The most widely used is computed tomography or CT scan, sometimes pronounced CAT scan, which is comprised of a series of cross-sectional images of the head and brain. CT scans are sensitive for detecting hemorrhage and are therefore useful for differentiating hemorrhagic stroke, caused by bleeding in the brain, from ischemic stroke, caused by a blockage of blood flow to the brain. Hemorrhage is the primary reason for avoiding thrombolytic therapy (drugs that break up or dissolve blood clots), the only proven therapy for acute ischemic stroke. Because thrombolytic therapy might make a hemorrhagic stroke worse, doctors must confirm that the acute symptoms are not due to hemorrhage prior to giving the drug. A CT scan may show evidence of early ischemia an area of tissue that is dead or dying due to a loss of blood supply. Ischemic strokes generally show up on a CT scan about six to eight hours after the start of stroke symptoms. Though not as common in practice, CT scans also can be performed with a contrast agent to help visualize a blockage in the large arteries supplying the brain, or detect areas of decreased blood flow to the brain. Because CT is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. Diagnostic Imaging: MRI Scan Another imaging technique used in acute stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. Because MRI can show this type of injury very soon after stroke symptoms start, MRI has proven useful for diagnosing acute ischemic stroke before it is visible on CT. MRI also allows doctors to visualize blockages in the arteries, identify sites of prior stroke, and create a stroke treatment and prevention plan. Differences Between CT and MRI Scans MRI and CT are equally accurate for determining when hemorrhage is present. The benefit of MRI over a CT scan is more accurate and earlier diagnosis of ischemic stroke, especially for smaller strokes and transient ischemic attacks (TIAs). MRI can be more sensitive than CT for detecting other types of neurological disorders that mimic the symptoms of stroke. However, MRI cannot be performed in patients with certain types of metallic or electronic implants, such as pacemakers for the heart. Although increasingly used in the emergency diagnosis of stroke, MRI is not immediately available at all hours in most hospitals, where CT is used for acute stroke diagnosis. MRI typically takes longer to perform than CT, and therefore may not be the first choice when minutes count.",NIHSeniorHealth,Stroke +what research (or clinical trials) is being done for Stroke ?,"The National Institute of Neurological Disorders and Stroke sponsors a wide range of basic and clinical research aimed at finding better ways to prevent, diagnose, and treat stroke, and to restore functions lost as a result of stroke. Preventing Secondary Brain Damage Currently, scientists are studying the risk factors for stroke and the process of brain damage that results from stroke. Some brain damage may be secondary, occurring after the initial death of brain cells caused by the lack of blood flow to the brain tissue. This secondary brain damage results from a toxic reaction to the primary damage. Researchers are studying this toxic reaction and ways to prevent secondary injury to the brain. Scientists hope to develop neuroprotective agents, or drugs that protect the brain, to prevent this damage. Animal Studies Scientists are also conducting stroke studies in animals. By studying stroke in animals, researchers hope to get a better picture of what might be happening in human stroke patients. Scientists can also use animal models to test promising therapies for stroke. If a therapy proves helpful for animals, scientists can consider testing the therapy in humans. One promising area of animal research involves hibernation. The dramatic decrease of blood flow to the brain in hibernating animals is so extensive that it would kill a non-hibernating animal. If scientists can discover how animals hibernate without experiencing brain damage, they may discover ways to stop the brain damage associated with decreased blood flow in stroke patients. Another study used a vaccine that interferes with inflammation inside blood vessels to reduce the frequency and severity of strokes in animals with high blood pressure and a genetic predisposition to stroke. Researchers hope that the vaccine will work in humans and could be used to prevent many of the strokes that occur each year in people with high risk factors. Can the Brain Repair Itself? Scientists also are working to develop new and better ways to help the brain repair itself to restore important functions to stroke patients. New advances in imaging and rehabilitation have shown that the brain can compensate for functions lost as a result of stroke. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability to learn and change, called plasticity, and its ability to rewire the connections between its nerve cells means that it can compensate for lost functions. One part of the brain can actually change functions and take up the more important functions of a disabled part. Clinical Trials Clinical trials are scientific studies using volunteers that give researchers a way to test medical advances in humans. Clinical trials test surgical devices and procedures, medications, and rehabilitation therapies. They also test methods to improve lifestyles and mental and social skills. Clinical trials may compare a new medical approach to a standard one that is already available or to a placebo that contains no active ingredients or to no intervention. Some clinical trials compare interventions that are already available to each other. When a new product or approach is being studied, it is not usually known whether it will be helpful, harmful, or no different than available alternatives (including no intervention). The investigators try to determine the safety and usefulness of the intervention by measuring certain outcomes in the participants. Scientists are using clinical trials to - develop new and more effective treatments for stroke - discover ways to restore blood flow to the brain after stroke - improve recovery after stroke - learn more about the risk factors for stroke. develop new and more effective treatments for stroke discover ways to restore blood flow to the brain after stroke improve recovery after stroke learn more about the risk factors for stroke. Participating in a clinical study contributes to medical knowledge. The results of these studies can make a difference in the care of future patients by providing information about the benefits and risks of therapeutic, preventative, or diagnostic products or interventions. You can find more information about current stroke clinical trials at the NIH Clinical Trials Registry at www.clinicaltrials.gov. You can search for a trial using criteria such as condition or disease, medication or therapy. Each entry includes a trial description, sponsors, purpose, estimated completion date, eligibility criteria, and contact information. You can also call the NIH research study information line at 1-800-411-1222, TTY-1-866-411-1010, or e-mail prpl@mail.cc.nih.gov For more information on stroke, including research sponsored by the National Institute of Neurological Disorders and Stroke, call 1-800-352-9424 or visit the Web site at www.ninds.nih.gov.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical.",NIHSeniorHealth,Stroke +Who is at risk for Stroke? ?,"Stroke occurs in all age groups, in both sexes, and in all races in every country. It can even occur before birth, when the fetus is still in the womb. Studies show the risk of stroke doubles for each decade between the ages of 55 and 85. However, a recent study found that stroke rates are on the rise for people under 55.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke is called hemorrhagic stroke. A hemorrhagic stroke is caused by a blood vessel that breaks and bleeds into the brain.,NIHSeniorHealth,Stroke +What are the symptoms of Stroke ?,"Warning signs are clues your body sends to tell you that your brain is not receiving enough oxygen. These are warning signs of a stroke, or brain attack: - sudden numbness or weakness of the face, arm, or leg, especially on one side of the body - sudden confusion, trouble speaking or understanding - sudden trouble seeing in one or both eyes - sudden trouble walking, dizziness, loss of balance or coordination - sudden severe headache with no known cause. sudden numbness or weakness of the face, arm, or leg, especially on one side of the body sudden confusion, trouble speaking or understanding sudden trouble seeing in one or both eyes sudden trouble walking, dizziness, loss of balance or coordination sudden severe headache with no known cause. If you observe one or more of these signs, don't wait. Call 911 right away!",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"Transient ischemic attacks, or TIAs, occur when the warning signs of stroke last only a few moments and then disappear. These brief episodes are also sometimes called ""mini-strokes."" Although brief, they identify an underlying serious condition that isn't going away without medical help. Unfortunately, since they clear up, many people ignore them. Don't ignore them. Heeding them can save your life.",NIHSeniorHealth,Stroke +Who is at risk for Stroke? ?,"A risk factor is a condition or behavior that increases your chances of getting a disease. Having a risk factor for stroke doesn't mean you'll have a stroke. On the other hand, not having a risk factor doesn't mean you'll avoid a stroke. But your risk of stroke grows as the number and severity of risk factors increase. Risk factors for stroke include ones that you cannot control and ones that you can control. Some of the risk factors that you cannot control include - Age. Although stroke can occur at any age, the risk of stroke doubles for each decade between the ages of 55 and 85. - Gender. Men have a higher risk for stroke, but more women die from stroke. Men generally do not live as long as women, so men are usually younger when they have their strokes and therefore have a higher rate of survival. - Race. The risk of stroke is higher among African-American and Hispanic Americans. - Family History. Family history of stroke increases your risk. Age. Although stroke can occur at any age, the risk of stroke doubles for each decade between the ages of 55 and 85. Gender. Men have a higher risk for stroke, but more women die from stroke. Men generally do not live as long as women, so men are usually younger when they have their strokes and therefore have a higher rate of survival. Race. The risk of stroke is higher among African-American and Hispanic Americans. Family History. Family history of stroke increases your risk. The risk factors for stroke that you CAN control include - high blood pressure - cigarette smoking - diabetes - high blood cholesterol - heart disease. high blood pressure cigarette smoking diabetes high blood cholesterol heart disease. Experiencing warning signs and having a history of stroke are also risk factors for stroke.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"Atherosclerosis, also known as hardening of the arteries, is the most common blood vessel disease. It is caused by the buildup of fatty deposits in the arteries, and is a risk factor for stroke.",NIHSeniorHealth,Stroke +How to prevent Stroke ?,"Yes. Stroke is preventable. A better understanding of the causes of stroke has helped people make lifestyle changes that have cut the stroke death rate nearly in half in the last two decades. While family history of stroke plays a role in your risk, there are many risk factors you can control: - If you have high blood pressure, work with your doctor to get it under control. Managing your high blood pressure is the most important thing you can do to avoid stroke. See ways to manage high blood pressure. - If you smoke, quit. See resources to help you quit, including , smoking quitlines, an online quit plan, a quit smoking website for older adults, and mobile apps and free text messaging services. If you have high blood pressure, work with your doctor to get it under control. Managing your high blood pressure is the most important thing you can do to avoid stroke. See ways to manage high blood pressure. If you smoke, quit. See resources to help you quit, including , smoking quitlines, an online quit plan, a quit smoking website for older adults, and mobile apps and free text messaging services. - If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. See ways to manage diabetes every day. - If you are overweight, start maintaining a healthy diet and exercising regularly. See a sensible approach to weight loss. See exercises tailored for older adults. If you have diabetes, learn how to manage it. Many people do not realize they have diabetes, which is a major risk factor for heart disease and stroke. See ways to manage diabetes every day. If you are overweight, start maintaining a healthy diet and exercising regularly. See a sensible approach to weight loss. See exercises tailored for older adults. - If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Learn about lifestyle changes to control cholesterol. If you have high cholesterol, work with your doctor to lower it. A high level of total cholesterol in the blood is a major risk factor for heart disease, which raises your risk of stroke. Learn about lifestyle changes to control cholesterol.",NIHSeniorHealth,Stroke +How to diagnose Stroke ?,"Doctors have several techniques and imaging tools to help diagnose stroke quickly and accurately. The first step in diagnosis is a short neurological examination, or an evaluation of the nervous system. When a possible stroke patient arrives at a hospital, a health care professional, usually a doctor or nurse, will ask the patient or a companion what happened and when the symptoms began. Blood tests, an electrocardiogram, and a brain scan such as computed tomography (CT) or magnetic resonance imaging (MRI) will often be done.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. Other scales include the Glasgow Coma Scale, the Hunt and Hess Scale, the Modified Rankin Scale, and the Barthel Index.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. A CT scan may show evidence of early ischemia an area of tissue that is dead or dying due to a loss of blood supply. Ischemic strokes generally show up on a CT scan about six to eight hours after the start of stroke symptoms.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"Another imaging technique used for stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. An MRI can show this type of damage very soon after the stroke symptoms start. MRI and CT are equally accurate for determining when hemorrhage is present. The benefit of MRI over a CT scan is more accurate and earlier diagnosis of ischemic stroke especially for smaller strokes and transient ischemic attacks (TIAs). Also, MRI can be more sensitive than CT for detecting other types of neurologic disorders that mimic the symptoms of stroke. However, MRI cannot be performed in patients with certain types of metallic or electronic implants, such as pacemakers for the heart. Although increasingly used in the emergency diagnosis of stroke, MRI is not immediately available at all hours in most hospitals, where CT is used for acute stroke diagnosis. Also, MRI typically takes longer to perform than CT, and therefore may not be the first choice when minutes count.",NIHSeniorHealth,Stroke +What are the treatments for Stroke ?,"With stroke, treatment depends on the stage of the disease. There are three treatment stages for stroke: prevention, therapy immediately after stroke, and rehabilitation after stroke. Stroke treatments include medications, surgery, and rehabilitation.",NIHSeniorHealth,Stroke +What are the treatments for Stroke ?,"Medication or drug therapy is the most common treatment for stroke. The most popular kinds of drugs to prevent or treat stroke are antithrombotics -- which include antiplatelet agents and anticoagulants -- and thrombolytics. Antithrombotics prevent the formation of blood clots that can become stuck in an artery of the brain and cause strokes. - In the case of stroke, doctors prescribe antiplatelet drugs mainly for prevention. The most widely known and used antiplatelet drug is aspirin. Other antiplatelet drugs include clopidogrel, ticlopidine, and dipyridamole. In the case of stroke, doctors prescribe antiplatelet drugs mainly for prevention. The most widely known and used antiplatelet drug is aspirin. Other antiplatelet drugs include clopidogrel, ticlopidine, and dipyridamole. - Anticoagulants reduce the risk of stroke by reducing the clotting property of the blood. The most commonly used oral anticoagulants include warfarin, also known as Coumadin, dabigatran (Pradaxa) and rivaroxaban (Xarelto). Injectable anticoagulants include heparin, enoxaparin (Lovenox), and dalteparin (Fragmin). Anticoagulants reduce the risk of stroke by reducing the clotting property of the blood. The most commonly used oral anticoagulants include warfarin, also known as Coumadin, dabigatran (Pradaxa) and rivaroxaban (Xarelto). Injectable anticoagulants include heparin, enoxaparin (Lovenox), and dalteparin (Fragmin). Thrombolytic drugs halt the stroke by dissolving the blood clot that is blocking blood flow to the brain. Ischemic strokes -- the most common kind -- can be treated with thrombolytic drugs. But a person needs to be at the hospital as soon as possible after symptoms start to be evaluated and receive treatment. A thrombolytic drug known as t-PA can be effective if a person receives it intravenously (in a vein) within 3 hours after his or her stroke symptoms have started. Because there is such a narrow time window for giving t-PA, it is important to note the time any stroke symptoms appear. Since thrombolytic drugs can increase bleeding, t-PA should be used only after the doctor is certain that the patient has suffered an ischemic and not a hemorrhagic stroke. Neuroprotectants are medications or other treatments that protect the brain from secondary injury caused by stroke. Although the FDA (Food and Drug Administration) has not approved any neuroprotectants for use in stroke at this time, many have been tested or are being tested in clinical trials. Cooling of the brain (hypothermia) is beneficial for improving neurological function after a cardiac arrest.",NIHSeniorHealth,Stroke +What are the treatments for Stroke ?,"Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. - Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.",NIHSeniorHealth,Stroke +what research (or clinical trials) is being done for Stroke ?,"The National Institute of Neurological Disorders and Stroke sponsors a wide range of basic and clinical research aimed at finding better ways to prevent, diagnose, and treat stroke, and to restore functions lost as a result of stroke. Currently, scientists are conducting stroke studies in animals. By studying stroke in animals, researchers hope to get a better picture of what might be happening in human stroke patients. Scientists can also use animal models to test promising therapies for stroke. If a therapy proves helpful for animals, scientists can consider testing the therapy in humans. Scientists are also working to develop new and better ways to help the brain repair itself to restore important functions to stroke patients. New advances in imaging and rehabilitation have shown that the brain can compensate for functions lost as a result of stroke. Clinical trials are scientific studies using volunteers that give researchers a way to test medical advances in humans. Clinical trials test surgical devices and procedures, medications, and rehabilitation therapies. They also test methods to improve lifestyles and mental and social skills. Scientists are using clinical trials to - develop new and more effective treatments for stroke - discover ways to restore blood flow to the brain after stroke - improve recovery after stroke - learn more about the risk factors for stroke. develop new and more effective treatments for stroke discover ways to restore blood flow to the brain after stroke improve recovery after stroke learn more about the risk factors for stroke. Participating in a clinical study contributes to medical knowledge. The results of these studies can make a difference in the care of future patients by providing information about the benefits and risks of therapeutic, preventative, or diagnostic products or interventions.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"Brain plasticity is the brain's ability to learn and change, allowing it to adapt to deficits and injury and to take over the functions of damaged cells. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability torewire the connections between its nerve cells allows it to compensate for lost functions.",NIHSeniorHealth,Stroke +What is (are) Stroke ?,"For more information on stroke, including research sponsored by the National Institute of Neurological Disorders and Stroke, call 1-800-352-9424 or visit the Web site at www.ninds.nih.gov.",NIHSeniorHealth,Stroke +What is (are) Psoriasis ?,"Psoriasis (sow RYE uh sis) is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess cells and they build up on the surface of the skin, forming thick, scaly patches. Types of Psoriasis Psoriasis occurs in five different forms that affect both men and women. Most people have only one type of psoriasis at a time. Sometimes, one type of psoriasis will disappear and another will appear. Here is a brief overview of the different forms of psoriasis. - Is the most common form - appears as raised red patches covered in silvery white scales - usually shows up on the scalp, knees, elbows and lower back - patches may itch or be painful and can also crack and bleed. Is the most common form appears as raised red patches covered in silvery white scales usually shows up on the scalp, knees, elbows and lower back patches may itch or be painful and can also crack and bleed. - is the second most common form of psoriasis - usually begins in childhood or early adulthood - appears as small red spots on the skin. is the second most common form of psoriasis usually begins in childhood or early adulthood appears as small red spots on the skin. - appears as red sores in body folds, such as the groin and under the breasts - is more common in people who are overweight - often occurs along with another form of psoriasis. appears as red sores in body folds, such as the groin and under the breasts is more common in people who are overweight often occurs along with another form of psoriasis. - features white blisters surrounded by red skin - mainly affects adults - may occur all over the body, but usually affects one area. features white blisters surrounded by red skin mainly affects adults may occur all over the body, but usually affects one area. - is the rarest and most dangerous form of psoriasis - is characterized by inflammation - usually affects most of the body. is the rarest and most dangerous form of psoriasis is characterized by inflammation usually affects most of the body.",NIHSeniorHealth,Psoriasis +What causes Psoriasis ?,"Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. Genes Play a Role No one knows what causes T cells to go wrong, but certain genes have been linked to psoriasis. People who have these genes are more likely to develop psoriasis than people without the genes. However, genes alone do not cause psoriasis. Scientists believe psoriasis occurs when something in the environment triggers the disease in someone who has one or more of these genes. Psoriasis Triggers These so-called triggers may be different for different people. Different triggers may start the disease or make it worse in different people. Factors that may trigger psoriasis or make it worse include - physical and emotional stress - injury to the skin such as cuts or burns - infections, particularly strep throat - cold weather - smoking or heavy alcohol use - certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. physical and emotional stress injury to the skin such as cuts or burns infections, particularly strep throat cold weather smoking or heavy alcohol use certain medications such as - lithium, a psychiatric drug - antimalarials such as hydroxychloroquine and chloroquine - inderal, a high blood pressure medicine - quinidine, a heart medication - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. lithium, a psychiatric drug antimalarials such as hydroxychloroquine and chloroquine inderal, a high blood pressure medicine quinidine, a heart medication indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis.",NIHSeniorHealth,Psoriasis +What are the symptoms of Psoriasis ?,"Different forms of psoriasis have different symptoms. In many cases your doctor can diagnose psoriasis based on the signs seen in the physical exam as well as the symptoms you describe. Symptoms The most common symptoms of psoriasis are - patches of thick, red skin - skin inflammation - silvery scales - itching - pain. patches of thick, red skin skin inflammation silvery scales itching pain. Psoriasis most commonly affects the elbows, knees, scalp, lower back, face, palms, soles of the feet, nails, and soft tissues. Making a Diagnosis In most cases, your primary care provider can diagnose psoriasis simply by examining your skin. Because the symptoms of psoriasis may be similar to those of other skin diseases, however, sometimes the diagnosis is more difficult. You may need to see a dermatologist, a doctor who specializes in diagnosing and treating skin diseases. If your doctor isn't sure if you have psoriasis, he or she may order a biopsy. This involves removing a small sample of skin and looking at it under a microscope.",NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,"The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin. There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied directly to the skin. Some use light to treat skin lesions. Others are taken by mouth or injected. This chapter focuses on treatments that are applied directly to the skin -- also called topical treatments or light therapy. Topical Treatments Here are some different types of topical treatments for psoriasis. - helps soften and loosen skin scales - comes as a cream, lotion, liquid, gel, ointment or shampoo. helps soften and loosen skin scales comes as a cream, lotion, liquid, gel, ointment or shampoo. - reduce inflammation and slow the growth and build-up of skin cells - are used in different strengths for different parts of the body. reduce inflammation and slow the growth and build-up of skin cells are used in different strengths for different parts of the body. - works by slowing the production of skin cells - is often combined with a steroid for added effects - may be used with UVB light. works by slowing the production of skin cells is often combined with a steroid for added effects may be used with UVB light. - is used to treat long-term psoriasis and hard-to-treat plaques - reduces inflammation - slows down the growth of skin cells. is used to treat long-term psoriasis and hard-to-treat plaques reduces inflammation slows down the growth of skin cells. - cause the skin to shed dead cells - slow the growth of skin cells - decrease itching. cause the skin to shed dead cells slow the growth of skin cells decrease itching. - are believed to work by reducing skin cell overgrowth - decrease inflammation - are often used with other treatments. are believed to work by reducing skin cell overgrowth decrease inflammation are often used with other treatments. - slow down the growth of skin cells - may be used with steroid creams for added effects. slow down the growth of skin cells may be used with steroid creams for added effects. Regardless of the topical medication your doctor prescribes, it is important to follow directions carefully. Some can be messy and stain your clothing and bedding. Others can have potentially dangerous side effects. Light Therapy Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues. Here are some different kinds of light therapy. UVB phototherapy - penetrates the skin to slow the growth of affected cells - is given at home or at the doctors office - may be combined with topical treatments or injected or oral medicines to increase effectiveness. penetrates the skin to slow the growth of affected cells is given at home or at the doctors office may be combined with topical treatments or injected or oral medicines to increase effectiveness. Excimer laser - targets select areas of skin with a beam of high-intensity UVB light - is used to treat chronic, localized psoriasis plaques - may take 4 to 10 sessions to see results . targets select areas of skin with a beam of high-intensity UVB light is used to treat chronic, localized psoriasis plaques may take 4 to 10 sessions to see results . Pulsed dye laser - uses a dye and different wavelength of light from other skin treatments - destroys tiny blood vessels that help psoriasis lesions form - may take 4 to 6 sessions to clear treated lesions. uses a dye and different wavelength of light from other skin treatments destroys tiny blood vessels that help psoriasis lesions form may take 4 to 6 sessions to clear treated lesions.",NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,"While many psoriasis treatments are applied directly to the skin, your doctor may prescribe others that must be taken by mouth or injected. There are also some natural treatments, taken by mouth or applied to the skin, that you can try on your own. Systemic Therapies These therapies, prescribed by your doctor, work in different ways to help control the underlying disease process. It is important to learn as much as you can about these medications and to take them exactly as prescribed by your doctor. Oral or injected medications for psoriasis include the following. - is used to treat severe psoriasis (meaning more than 20 percent of skin is affected) - slows the rapid growth of skin cells - is taken by mouth or injected. is used to treat severe psoriasis (meaning more than 20 percent of skin is affected) slows the rapid growth of skin cells is taken by mouth or injected. - may be used for severe psoriasis not controlled by methotrexate - suppresses overactive T cells that play a role in psoriasis - is taken by mouth or injected. may be used for severe psoriasis not controlled by methotrexate suppresses overactive T cells that play a role in psoriasis is taken by mouth or injected. - are man-made drugs related to vitamin A - help slow the production of skin cells - reduce inflammation. are man-made drugs related to vitamin A help slow the production of skin cells reduce inflammation. - are made from living cells grown in a laboratory - block the action of specific cells and proteins that play a role in psoriasis - must be injected beneath the skin or given intravenously (by IV). are made from living cells grown in a laboratory block the action of specific cells and proteins that play a role in psoriasis must be injected beneath the skin or given intravenously (by IV). Natural Treatments For many people, natural treatments can help relieve the symptoms of psoriasis. There are many natural treatments you can try on your own, but you should never use them to replace the treatment your doctor prescribes. Here are some natural treatments you may want to try. Spending a few minutes in the summer sun can help your psoriasis, but be sure to use sun block and increase time spent in the sun gradually. Applying cream from the aloe vera plant improves symptoms for some people. You should avoid aloe vera tablets. Taking fish oil orally helps some people with psoriasis. If you want to try fish oil, first speak with your doctor, as it may interact with other medications you are taking. Soaking in a solution of Dead Sea salts may improve scaling and itching. Be sure to apply moisturizer when you get out of the tub. Capsaicin, the ingredient that makes cayenne peppers hot, is the active ingredient in some topical pain-relievers. Some people find they relieve pain and itching.",NIHSeniorHealth,Psoriasis +what research (or clinical trials) is being done for Psoriasis ?,"Scientists who are working to better understand and treat psoriasis are making headway in several different areas. The Role of T Cells Scientists believe that psoriasis occurs when white blood cells called T cells, which normally help fight infections, attack the bodys skin cells by mistake. Scientists are working to understand what causes these cells to go awry in people with psoriasis. Their hope is that by better understanding why T cells attack the bodys healthy skin tissue, they can develop better treatments to stop or prevent that damaging process. New Treatments Since discovering that T cells attack skin cells in psoriasis, researchers have been studying new treatments that quiet immune system reactions in the skin. Among these are treatments that block the activity of T cells or block cytokines (proteins that promote inflammation). If researchers find a way to target only the disease-causing immune reactions while leaving the rest of the immune system alone, resulting treatments could benefit psoriasis patients as well as those with other autoimmune diseases (when the immune system attacks the bodys own tissues). Currently there are a number of potential psoriasis treatments in clinical trials, including injections, pills, and topical ointments. Clinical trials are research studies with volunteers in which drugs are tested for the effectiveness and safety. All drugs must complete and pass this process before they can be approved by the FDA. Psoriasis Genes Because psoriasis is more common among people who have one or more family members with the disease, scientists have long suspected that genes are involved. A number of genetic loci specific locations on the genes have been associated with the development of psoriasis or the severity or progression of the disease. In 2012, scientists discovered the first gene to be directly linked to development of plaque psoriasis. Researchers continue to study the genetic aspects of psoriasis, and some studies are looking at the nervous system to determine the genes responsible for the circuitry that causes itching. Psoriasis-related Conditions Research in recent years has shown that people with psoriasis are more likely to develop other health problems, including problems with the heart and blood vessels. Research is continuing to examine links between psoriasis and other health problems. Scientists are working to understand how and why these diseases occur in people with psoriasis, with the hope that this understanding will lead to better treatments for both psoriasis and the related diseases. Stress Reduction Treatment For many people with psoriasis, life stresses cause the disease to worsen or become more active. Research suggests that stress is associated with the increased production of chemicals by the immune system that promote inflammation. The same chemicals may play a role in the anxiety and depression that is common in people with psoriasis. Researchers are studying the use of stress reduction techniques, along with medical treatment, in the hope that reducing stress will both lower anxiety and improve the skin lesions of psoriasis. Where to Find More Information More information on research is available from the following websites. - NIH Clinical Research Trials and You helps people learn more about clinical trials, why they matter, and how to participate. Visitors to the website will find information about the basics of participating in a clinical trial, first-hand stories from actual clinical trial volunteers, explanations from researchers, and links to help you search for a trial or enroll in a research-matching program. - ClinicalTrials.gov offers up-to-date information for locating federally and privately supported clinical trials for a wide range of diseases and conditions. - NIH RePORTER is an electronic tool that allows users to search a repository of both intramural and extramural NIH-funded research projects from the past 25 years and access publications (since 1985) and patents resulting from NIH funding. - PubMed is a free service of the U.S. National Library of Medicine that lets you search millions of journal citations and abstracts in the fields of medicine, nursing, dentistry, veterinary medicine, the health care system, and preclinical sciences. NIH Clinical Research Trials and You helps people learn more about clinical trials, why they matter, and how to participate. Visitors to the website will find information about the basics of participating in a clinical trial, first-hand stories from actual clinical trial volunteers, explanations from researchers, and links to help you search for a trial or enroll in a research-matching program. ClinicalTrials.gov offers up-to-date information for locating federally and privately supported clinical trials for a wide range of diseases and conditions. NIH RePORTER is an electronic tool that allows users to search a repository of both intramural and extramural NIH-funded research projects from the past 25 years and access publications (since 1985) and patents resulting from NIH funding. PubMed is a free service of the U.S. National Library of Medicine that lets you search millions of journal citations and abstracts in the fields of medicine, nursing, dentistry, veterinary medicine, the health care system, and preclinical sciences.",NIHSeniorHealth,Psoriasis +What is (are) Psoriasis ?,"Psoriasis is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess cells and they build up on the surface of the skin, forming thick, scaly patches.",NIHSeniorHealth,Psoriasis +What is (are) Psoriasis ?,"The most common form of psoriasis is called plaque psoriasis. It appears as raised red patches covered in silvery white scales. Plaque psoriasis usually shows up on the scalp, knees, elbows, and lower back. The patches may itch or be painful. They can also crack and bleed.",NIHSeniorHealth,Psoriasis +What causes Psoriasis ?,"Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake.",NIHSeniorHealth,Psoriasis +How to diagnose Psoriasis ?,"In most cases, your primary care doctor can diagnose psoriasis simply by examining your skin. If your doctor isn't sure if you have psoriasis, he or she may order a biopsy. This involves removing a small sample of skin and looking at it under a microscope.",NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,"The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin.",NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied to the directly to the skin. Some use light to treat skin lesions. Others are taken by mouth or injected.,NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,"Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. salicylic acid, steroid-based creams calcipotriene-containing ointment anthralin coal-tar ointments and shampoos and vitamin D analogues.",NIHSeniorHealth,Psoriasis +What is (are) Psoriasis ?,"Oral or injected medications for psoriasis include methotrexate, cycloclosporine, oral retinoids, and biologics. These therapies, prescribed by your doctor, work in different ways to help control the underlying disease process.",NIHSeniorHealth,Psoriasis +What is (are) Psoriasis ?,"Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues.",NIHSeniorHealth,Psoriasis +What are the treatments for Psoriasis ?,"For many people, natural treatments can help relieve the symptoms of psoriasis. There are many natural treatments you can try on your own, but you should never use them to replace the treatment your doctor prescribes. Some natural treatments you may want to try are - sunlight - aloe - fish oil - Dead Sea salts - cayenne. sunlight aloe fish oil Dead Sea salts cayenne.",NIHSeniorHealth,Psoriasis +What is (are) Psoriasis ?,"Having psoriasis may cause you to feel self-conscious, particularly if it affects a part of the body that others can see. Some people plan their clothing such as long skirts vs. knee-length or long-sleeve instead of short-sleeve shirts to hide affected skin. Others withdraw from sports and other activities where affected skin would show. Pain, itching, and other symptoms can lead to frustration. Uncertainty over the course of the disease or the need for ongoing treatment may cause you to feel anxious or depressed. In some cases psoriasis symptoms make it difficult or impossible for people keep up with their jobs, household chores, or favorite activities. Having to give up a job or favorite hobby can further increase the risk of emotional problems.",NIHSeniorHealth,Psoriasis +what research (or clinical trials) is being done for Psoriasis ?,"Scientists who are working to better understand and treat psoriasis are making headway in several different areas, including the role of T cells, new treatments, psoriasis genes, psoriasis-related conditions, and stress-reduction treatment.",NIHSeniorHealth,Psoriasis +What is (are) High Blood Cholesterol ?,"What is Cholesterol? Cholesterol is a waxy, fat-like substance that your liver makes. It is also found in some foods that come from animals. Cholesterol is found in all parts of your body. It plays a vital role in your body. It makes hormones, helps you digest food, and supports the workings of all the cells in your body. But your liver makes all the cholesterol that your body needs to do this. Lipoproteins and Cholesterol Cholesterol circulates in your blood stream. But it's fatty while your blood is watery. Just like oil and water, the two do not mix. As a result, cholesterol travels through your bloodstream in small packages called lipoproteins. The packages are made of fat (lipids) on the inside and proteins on the outside. Two kinds of lipoproteins carry cholesterol through your bloodstream. It's important to have healthy levels of both: - low-density lipoproteins (LDL) - high-density lipoproteins (HDL). low-density lipoproteins (LDL) high-density lipoproteins (HDL). What Does LDL Cholesterol Do? Low-density lipoproteins (LDL) carry cholesterol to all the cells in your body, including the arteries that supply blood to your heart. LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease. What Does HDL Cholesterol Do? High-density lipoproteins (HDL) carry cholesterol away from the cells in your body. HDL cholesterol is sometimes called good cholesterol because it helps remove cholesterol from your artery walls. The liver then removes the cholesterol from your body. The higher your HDL cholesterol level, the lower your chances of getting heart disease. If Your Blood Cholesterol Is Too High Too much cholesterol in your blood is called high blood cholesterol. It can be serious. It increases your chances of having a heart attack or getting heart disease. When the cholesterol level in your blood is too high, it can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Plaque Buildup Can Lead to - Artherosclerosis. Over time, the plaque can build up so much that it narrows your arteries. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. Artherosclerosis. Over time, the plaque can build up so much that it narrows your arteries. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. - Coronary Heart Disease (CHD). Artherosclerosis can occur in blood vessels anywhere in your body, including the ones that bring blood to your heart, called the coronary arteries. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease (CHD). Coronary Heart Disease (CHD). Artherosclerosis can occur in blood vessels anywhere in your body, including the ones that bring blood to your heart, called the coronary arteries. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease (CHD). - Angina. The buildup of plaque can lead to chest pain called angina. Angina is a common symptom of CHD. It happens when the heart does not receive enough oxygen-rich blood from the lungs. Angina. The buildup of plaque can lead to chest pain called angina. Angina is a common symptom of CHD. It happens when the heart does not receive enough oxygen-rich blood from the lungs. - Heart Attack. Some plaques have a thin covering, so they may rupture or break open. A blood clot can then form over the plaque. A clot can block the flow of blood through the artery. This blockage can cause a heart attack. Heart Attack. Some plaques have a thin covering, so they may rupture or break open. A blood clot can then form over the plaque. A clot can block the flow of blood through the artery. This blockage can cause a heart attack. Lowering Cholesterol Can Affect Plaque Lowering your cholesterol level reduces your chances of plaque rupturing and causing a heart attack. It may also slow down, reduce, or even stop plaque from building up. And it reduces your chances of dying from heart disease. High blood cholesterol itself does not cause symptoms, so many people don't know that they have it. It is important to find out what your cholesterol numbers are because if you have high blood cholesterol, lowering it reduces your chances of getting heart disease or having a heart attack.",NIHSeniorHealth,High Blood Cholesterol +What causes High Blood Cholesterol ?,"Many things can affect the level of cholesterol in your blood. You can control some of these things but not others. What You Can Control You can control - what you eat - your weight - your activity level. what you eat your weight your activity level. Your Diet Certain foods have several types of fat that raise your cholesterol level. - Saturated fat increases your LDL cholesterol level more than anything else in your diet. Saturated fat is found mostly in foods that come from animal sources such as egg yolks, meat, and milk products, including butter, cream and cheese. These foods also contain cholesterol. Saturated fat increases your LDL cholesterol level more than anything else in your diet. Saturated fat is found mostly in foods that come from animal sources such as egg yolks, meat, and milk products, including butter, cream and cheese. These foods also contain cholesterol. - Trans fatty acids, or trans fats, also raise your LDL cholesterol level. These mostly come from vegetable oil that has gone through a process called hydrogenation to make it hard. Examples of foods containing trans fats include many convenience foods such as doughnuts, French fries, cookies, cakes and pastries. Trans fatty acids, or trans fats, also raise your LDL cholesterol level. These mostly come from vegetable oil that has gone through a process called hydrogenation to make it hard. Examples of foods containing trans fats include many convenience foods such as doughnuts, French fries, cookies, cakes and pastries. Your Weight Being overweight tends to - increase your LDL level - lower your HDL level - increase your total cholesterol level. increase your LDL level lower your HDL level increase your total cholesterol level. Your Activity Level If you don't exercise regularly, you may gain weight. This could increase your LDL cholesterol level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level. What You Cannot Control You cannot control some things that can affect the level of cholesterol in your blood, including - your heredity - your age - your sex. your heredity your age your sex. High blood cholesterol can run in families. For most people, their cholesterol level is the result of an interaction between their genes and their lifestyles. As we get older, our cholesterol levels rise. - Before menopause, women tend to have lower total cholesterol levels than men of the same age. - After menopause, women's LDL (bad) cholesterol levels tend to increase. Before menopause, women tend to have lower total cholesterol levels than men of the same age. After menopause, women's LDL (bad) cholesterol levels tend to increase.",NIHSeniorHealth,High Blood Cholesterol +What are the symptoms of High Blood Cholesterol ?,"High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. You and your doctor should discuss how often you should be tested. Your doctor will take a sample of blood from a vein in your arm and send it to the laboratory to find out the level of cholesterol in your blood. Cholesterol Tests The recommended test is called a fasting lipoprotein profile. It will show your - total cholesterol - LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries - HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries - triglycerides, another form of fat in your blood. total cholesterol LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries triglycerides, another form of fat in your blood. You should not eat or drink anything except water or black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done. Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. The levels of blood cholesterol that are most important to know appear below. Ranges for Total Cholesterol Levels Here are the ranges for total cholesterol levels. Do you know how your cholesterol numbers compare? Ranges for LDL Cholesterol Levels Here are the ranges for LDL cholesterol levels. Do you know how your LDL cholesterol level compares? Ranges for HDL Cholesterol Levels Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares? Triglyceride Levels A lipoprotein profile will also show the level of triglycerides in your blood. Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease. Normal levels of triglycerides are less than 150 mg/dl. If your triglyceride levels are borderline high (150-199 mg/dL) or high (200 mg/dL or more), you may need treatment. Things that can increase your triglyceride levels include - overweight - physical inactivity - cigarette smoking - excessive alcohol use - diabetes. overweight physical inactivity cigarette smoking excessive alcohol use diabetes. Other things that can increase your triglyceride levels include - a very high carbohydrate diet - certain diseases and drugs - genetic disorders. a very high carbohydrate diet certain diseases and drugs genetic disorders.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"Cholesterol is a waxy, fat-like substance that your liver makes. It is also found in some foods that come from animals.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"LDL stands for low-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries and make them narrower. This buildup of cholesterol is called plaque. Over time, plaque can build up so much that it narrows your arteries. This is called atherosclerosis or hardening of the arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"HDL stands for high-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) HDL cholesterol is sometimes called good cholesterol because it helps remove cholesterol from your artery walls and carries it to your liver. The liver then removes the cholesterol from your body. The higher your HDL cholesterol level, the lower your chances of getting heart disease.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"Too much cholesterol in your blood is called high blood cholesterol. It can be serious. People with high blood cholesterol have a greater chance of getting heart disease. High blood cholesterol does not cause symptoms, so you may not be aware that your cholesterol level is too high.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease.,NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"Cholesterol can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Over time, the plaque can build up so much that the arteries become narrower. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"The coronary arteries bring blood to your heart. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"You can control - what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. - your weight. Being overweight tends to increase your LDL level, reduce your HDL level, and increase your total cholesterol level. your weight. Being overweight tends to increase your LDL level, reduce your HDL level, and increase your total cholesterol level. - your activity level. If you don't exercise regularly, you may gain weight. This could increase your LDL level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level. your activity level. If you don't exercise regularly, you may gain weight. This could increase your LDL level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"You cannot control - heredity. High blood cholesterol can run in families. - age. As we get older, our cholesterol levels rise. - sex. Before menopause, women tend to have lower total cholesterol levels than men of the same age. After menopause, women's LDL (bad) cholesterol levels tend to increase. heredity. High blood cholesterol can run in families. age. As we get older, our cholesterol levels rise. sex. Before menopause, women tend to have lower total cholesterol levels than men of the same age. After menopause, women's LDL (bad) cholesterol levels tend to increase.",NIHSeniorHealth,High Blood Cholesterol +How to diagnose High Blood Cholesterol ?,"The recommended blood test for checking your cholesterol levels is called a fasting lipoprotein profile. It will show your - total cholesterol - low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries - high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries - triglycerides -- another form of fat in your blood. total cholesterol low-density lipoprotein (LDL), or bad cholesterol -- the main source of cholesterol buildup and blockage in the arteries high-density lipoprotein (HDL), or good cholesterol that helps keep cholesterol from building up in your arteries triglycerides -- another form of fat in your blood. You should not eat or drink anything except water and black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,A desirable level for total cholesterol is less than 200 mg/dL. Here are the ranges for total cholesterol levels. Do you know how your total cholesterol level compares?,NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,A desirable level for LDL (bad) cholesterol is under 100 mg/dL. Here are the ranges for LDL cholesterol levels. Do you know how your LDL level compares?,NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,An HDL (good) cholesterol level more than 60 mg/dL is desirable for most people. Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares?,NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"A lipoprotein profile will also show the level of triglycerides in your blood. A desirable level is less than 150mg/dL. If the triglycerides in your blood are borderline high (150-199 mg/dL), or high (200 mg/dL or more), you may need treatment.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"Your LDL goal is how low your LDL cholesterol level should be to reduce your risk of developing heart disease or having a heart attack. The higher your risk, the lower your goal LDL should be. Your doctor will set your LDL goal using your medical history and the number of risk factors that you have.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"Your LDL cholesterol goal level depends on your risk for developing heart disease or having a heart attack at the time you start treatment. Major risk factors that affect your LDL goal include - cigarette smoking - high blood pressure (140/90 mmHg or higher), or being on blood pressure medicine - low HDL cholesterol (less than 40 mg/dL) - family history of early heart disease (heart disease in father or brother before age 55; heart disease in mother or sister before age 65) - age (men 45 years or older; women 55 years or older). cigarette smoking high blood pressure (140/90 mmHg or higher), or being on blood pressure medicine low HDL cholesterol (less than 40 mg/dL) family history of early heart disease (heart disease in father or brother before age 55; heart disease in mother or sister before age 65) age (men 45 years or older; women 55 years or older).",NIHSeniorHealth,High Blood Cholesterol +What are the treatments for High Blood Cholesterol ?,The main goal of cholesterol-lowering treatment is to lower your LDL (bad) cholesterol level enough to reduce your risk of having a heart attack or diseases caused by narrowing of the arteries.,NIHSeniorHealth,High Blood Cholesterol +What are the treatments for High Blood Cholesterol ?,There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines.,NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"TLC stands for Therapeutic Lifestyle Changes. It is a set of lifestyle changes that can help you lower your LDL cholesterol. TLC has three main parts: a cholesterol-lowering diet, weight management, and physical activity. The TLC Diet recommends - reducing the amount of saturated fat, trans fat, and cholesterol you eat. - eating only enough calories to achieve or maintain a healthy weight. - increasing the soluble fiber in your diet by eating foods such as oatmeal, kidney beans, and apples. - adding cholesterol-lowering foods, such as juices or margarines that contain plant sterols or stanols that lower cholesterol. reducing the amount of saturated fat, trans fat, and cholesterol you eat. eating only enough calories to achieve or maintain a healthy weight. increasing the soluble fiber in your diet by eating foods such as oatmeal, kidney beans, and apples. adding cholesterol-lowering foods, such as juices or margarines that contain plant sterols or stanols that lower cholesterol. Weight management is an important part of TLC. Losing weight if you are overweight can help lower LDL cholesterol. Weight management is especially important for people who have a group of risk factors that includes high triglyceride and/or low HDL levels, being overweight, and having too large a waist. Too large a waist is defined as a waist measurement of 40 inches or more for men and 35 inches or more for women. Physical activity is another important part of TLC. Regular physical activity is recommended for everyone. It can help raise HDL levels and lower LDL levels. It is especially important for people with high triglyceride and/or low HDL levels who are overweight and/or have a large waist measurement.",NIHSeniorHealth,High Blood Cholesterol +What is (are) High Blood Cholesterol ?,"If TLC (Therapeutic Lifestyle Changes) cannot lower your LDL cholesterol level enough by itself, your doctor may prescribe cholesterol-lowering medicines. The following medicines are used together with TLC to help lower your LDL (bad) cholesterol level. - statins - ezetimibe - bile acid sequestrants - nicotinic acid - fibrates. statins ezetimibe bile acid sequestrants nicotinic acid fibrates. Statins - are very effective in lowering LDL (bad) cholesterol levels - are safe for most people - have side effects that are infrequent, but potentially serious such as liver and muscle problems. are very effective in lowering LDL (bad) cholesterol levels are safe for most people have side effects that are infrequent, but potentially serious such as liver and muscle problems. Ezetimibe - lowers LDL (bad) cholesterol - may be used with statins or alone - acts within the intestine to block absorption of cholesterol. lowers LDL (bad) cholesterol may be used with statins or alone acts within the intestine to block absorption of cholesterol. Bile acid sequestrants - lower LDL (bad) cholesterol levels - are sometimes prescribed with statins - are not usually prescribed alone to lower cholesterol. lower LDL (bad) cholesterol levels are sometimes prescribed with statins are not usually prescribed alone to lower cholesterol. Nicotinic acid - lowers LDL (bad) cholesterol and triglycerides, and raises HDL (good) cholesterol - should be used only under a doctor's supervision. lowers LDL (bad) cholesterol and triglycerides, and raises HDL (good) cholesterol should be used only under a doctor's supervision. Fibrates - mainly lower triglycerides - may increase HDL (good) cholesterol levels - may increase the risk of muscle problems when used with a statin. mainly lower triglycerides may increase HDL (good) cholesterol levels may increase the risk of muscle problems when used with a statin.",NIHSeniorHealth,High Blood Cholesterol +What is (are) Peripheral Arterial Disease (P.A.D.) ?,"Arteries Clogged With Plaque Peripheral arterial disease (P.A.D.) is a disease in which plaque (plak) builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. When plaque builds up in the body's arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis). Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body. P.A.D. usually affects the arteries in the legs, but it can also affect the arteries that carry blood from your heart to your head, arms, kidneys, and stomach. Blocked blood flow to your legs can cause pain and numbness. It also can raise your risk of getting an infection in the affected limbs. Your body may have a hard time fighting the infection. Why is P.A.D. Dangerous? Over time, the plaque may crack and cause blood clots to form. These blood clots can block arteries, causing pain, numbness, inflammation, and even permanent tissue damage in the affected part of the body. If severe enough, blocked blood flow can cause tissue death (also called gangrene.) In very serious cases, this can lead to leg amputation. P.A.D. currently affects 8 million to 12 million Americans. About 1 in every 20 Americans over the age of 50 has P.A.D. African Americans are more than twice as likely as Caucasians to have P.A.D. If you have P.A.D., your risk of coronary artery disease, heart attack, stroke, and transient ischemic attack (""mini-stroke"") is much higher than in people without P.A.D. If you have coronary artery disease, you have a 1 in 3 chance of having blocked leg arteries. Although P.A.D. is serious, it is treatable. If you have the disease, it's important to see your doctor regularly and treat the underlying atherosclerosis. Other Names for Peripheral Arterial Disease - Atherosclerotic peripheral arterial disease - Claudication (klaw-dih-KA-shen) - Hardening of the arteries - Leg cramps from poor circulation - Peripheral vascular disease - Poor circulation - Vascular disease Atherosclerotic peripheral arterial disease Claudication (klaw-dih-KA-shen) Hardening of the arteries Leg cramps from poor circulation Peripheral vascular disease Poor circulation Vascular disease",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +How to prevent Peripheral Arterial Disease (P.A.D.) ?,"What Causes P.A.D.? The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. The exact cause of atherosclerosis isn't known. Certain people are at higher risk for developing atherosclerosis. The disease may start if certain factors damage the inner layers of the arteries. These factors include - smoking - high amounts of certain fats and cholesterol in the blood - high blood pressure - high amounts of sugar in the blood due to insulin resistance or diabetes. smoking high amounts of certain fats and cholesterol in the blood high blood pressure high amounts of sugar in the blood due to insulin resistance or diabetes. The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. The Effects of Smoking Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke or have a history of smoking. On average, people who smoke and develop P.A.D. have symptoms 10 years earlier than people who don't smoke and develop P.A.D. Quitting smoking slows the progress of P.A.D. Smoking even one or two cigarettes a day can interfere with P.A.D. treatments. People who smoke and people who have diabetes are at highest risk for P.A.D. complications such as gangrene (tissue death) in the leg from decreased blood flow. Older Age Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age. About 1 in every 20 Americans over the age of 50 has P.A.D. The risk continues to rise as you get older. Older age combined with other factors, such as smoking or diabetes, also puts you at higher risk for P.A.D. Diseases That Put You at Risk Many diseases and conditions can raise your risk of P.A.D., including - diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D. - high blood pressure - high blood cholesterol - coronary heart disease (CHD) - stroke - metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes). diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D. high blood pressure high blood cholesterol coronary heart disease (CHD) stroke metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes). A family history of these conditions makes P.A.D. more likely. Reducing Your Risk for P.A.D. Taking action to control your risk factors can help prevent or delay P.A.D. There are several helpful lifestyle changes you can make. - Quit smoking. Smoking is the biggest risk factor for P.A.D. - Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). - Get regular exercise and physical activity. Quit smoking. Smoking is the biggest risk factor for P.A.D. Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Get regular exercise and physical activity. These lifestyle changes can reduce your risk for P.A.D. and its complications. They can also help prevent and control conditions such as diabetes and high blood pressure that can lead to P.A.D.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What are the symptoms of Peripheral Arterial Disease (P.A.D.) ?,"Common Symptoms Some people with P.A.D. do not have any symptoms. Others may have a number of signs and symptoms. People who have P.A.D. may notice symptoms when walking or climbing stairs. These symptoms may include pain, aching, or heaviness in the leg muscles. Symptoms may also include - pain - aching, or heaviness in the leg muscles - cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. pain aching, or heaviness in the leg muscles cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. They may go away after resting. These symptoms are called intermittent claudication (klaw-dih-KA-shen). If You Have Leg Pain If you have leg pain when you walk or climb stairs, talk to your doctor. Sometimes older people think that leg pain is part of aging when it could be P.A.D. Tell your doctor if you're feeling pain in your legs, and discuss whether you should be tested for P.A.D. Other Possible Signs Possible signs of P.A.D. include - weak or absent pulses in the legs or feet - sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all - a pale or bluish color to the skin - a lower temperature in one leg compared to the other leg - poor toenail growth and decreased leg hair growth - erectile dysfunction, especially in men who have diabetes. weak or absent pulses in the legs or feet sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all a pale or bluish color to the skin a lower temperature in one leg compared to the other leg poor toenail growth and decreased leg hair growth erectile dysfunction, especially in men who have diabetes. Should I be Checked for P.A.D.? Even if you don't have symptoms or signs of P.A.D., you could still have the disease. Ask your doctor whether you should get checked for P.A.D. if you are - age 70 or older - age 50 or older and have a history of smoking or diabetes - younger than 50 years old and have diabetes and one or more risk factors for atherosclerosis. These risk factors include high cholesterol levels, high blood pressure, smoking, and being overweight. age 70 or older age 50 or older and have a history of smoking or diabetes younger than 50 years old and have diabetes and one or more risk factors for atherosclerosis. These risk factors include high cholesterol levels, high blood pressure, smoking, and being overweight.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +How to diagnose Peripheral Arterial Disease (P.A.D.) ?,"Your Family and Medical History P.A.D. is diagnosed based on a person's medical and family histories, a physical exam, and results from medical tests. To learn about your medical and family histories, your doctor may ask about - your risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes. - your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing - your diet - any medicines you take, including prescription and over-the-counter medicines - family members with a history of heart or blood vessel diseases. your risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes. your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing your diet any medicines you take, including prescription and over-the-counter medicines family members with a history of heart or blood vessel diseases. The Physical Exam During the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses. Your doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit (broo-E). He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery. Your doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she may also check for poor wound healing or any changes in your hair, skin, or nails that might be signs of P.A.D. Diagnostic Tests Tests are used to diagnose P.A.D. These tests include - an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm and shows how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting your limbs, but it wont show which blood vessels are narrowed or blocked. A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm and shows how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting your limbs, but it wont show which blood vessels are narrowed or blocked. A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. - a Doppler ultrasound. This test looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. a Doppler ultrasound. This test looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. - a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings on your symptoms. You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings on your symptoms. You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. - a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. - an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into one of your arteries, then an X-ray is taken. The X-ray can show the location, type, and extent of the blockage in the artery. Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into one of your arteries, then an X-ray is taken. The X-ray can show the location, type, and extent of the blockage in the artery. Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. - blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels. blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What is (are) Peripheral Arterial Disease (P.A.D.) ?,"Peripheral arterial disease (P.A.D.) is a disease in which plaque (plak) builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. P.A.D. currently affects millions of Americans, and about 1 in every 20 Americans over the age of 50 has P.A.D.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What causes Peripheral Arterial Disease (P.A.D.) ?,"The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +Who is at risk for Peripheral Arterial Disease (P.A.D.)? ?,"Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke. Smoking also raises your risk for other diseases, such as coronary heart disease (CHD). On average, smokers who develop P.A.D. have symptoms 10 years earlier than nonsmokers who develop P.A.D. As you get older, your risk for P.A.D. increases, usually starting in your fifties. Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk. African American men and women have a greater risk of developing P.A.D. than Caucasians. Your risk for P.A.D. is higher if you have diabetes, high cholesterol, high blood pressure, heart disease, or have had a stroke. A family history of these conditions also makes P.A.D. more likely.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What are the symptoms of Peripheral Arterial Disease (P.A.D.) ?,"People who have P.A.D. may have symptoms when walking or climbing stairs. These may include pain, numbness, aching, or heaviness in the leg muscles. Symptoms may also include cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. Some possible signs of P.A.D. include - weak or absent pulses in the legs or feet - sores or wounds on the toes, feet, or legs that heal slowly - a pale or bluish color to the skin - poor nail growth on the toes and decreased hair growth on the legs - erectile dysfunction, especially among men who have diabetes. weak or absent pulses in the legs or feet sores or wounds on the toes, feet, or legs that heal slowly a pale or bluish color to the skin poor nail growth on the toes and decreased hair growth on the legs erectile dysfunction, especially among men who have diabetes.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +How to diagnose Peripheral Arterial Disease (P.A.D.) ?,"There are several tests used to diagnose P.A.D. These include - an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm. It shows how well blood is flowing in your limbs. - a Doppler ultrasound. This test uses sound waves to show whether a blood vessel is blocked. A blood pressure cuff and special device measure blood flow in the veins and arteries of the limbs. A Doppler ultrasound can help find out how where P.A.D. is. - a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings them on. - a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. An MRA can find the location of a blocked blood vessel and show how severe the blockage is. - an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into an artery, then an X-ray is taken. The pictures from the X-ray can show the location, type, and extent of the blockage in the artery. - blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels. an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm. It shows how well blood is flowing in your limbs. a Doppler ultrasound. This test uses sound waves to show whether a blood vessel is blocked. A blood pressure cuff and special device measure blood flow in the veins and arteries of the limbs. A Doppler ultrasound can help find out how where P.A.D. is. a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings them on. a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. An MRA can find the location of a blocked blood vessel and show how severe the blockage is. an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into an artery, then an X-ray is taken. The pictures from the X-ray can show the location, type, and extent of the blockage in the artery. blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +How to prevent Peripheral Arterial Disease (P.A.D.) ?,"Treatment and prevention for P.A.D. often includes making long-lasting lifestyle changes, such as - quitting smoking - lowering blood pressure - lowering high blood cholesterol levels - lowering high blood glucose levels if you have diabetes - getting regular physical activity - following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). quitting smoking lowering blood pressure lowering high blood cholesterol levels lowering high blood glucose levels if you have diabetes getting regular physical activity following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Two examples of healthy eating plans are Therapeutic Lifestyle Changes (TLC) and Dietary Approaches to Stop Hypertension (DASH).",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What are the treatments for Peripheral Arterial Disease (P.A.D.) ?,"Yes. In some people, lifestyle changes are not enough to control P.A.D. Surgery and other procedures may be needed. These may include bypass grafting surgery, angioplasty, a stent, or a procedure called atherectomy (ath-eh-REK-to-mee). - Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. In this type of surgery, a blood vessel from another part of the body or a man-made tube is used to make a graft. This graft bypasses (goes around) the blocked part of the artery, which allows blood to flow around the blockage. This surgery doesn't cure P.A.D., but it may increase blood flow to the affected limb. Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. In this type of surgery, a blood vessel from another part of the body or a man-made tube is used to make a graft. This graft bypasses (goes around) the blocked part of the artery, which allows blood to flow around the blockage. This surgery doesn't cure P.A.D., but it may increase blood flow to the affected limb. - Angioplasty is used to restore blood flow through a narrowed or blocked artery. During this procedure, a catheter (thin tube) with a balloon or other device on the end is inserted into a blocked artery. The balloon is inflated, which pushes the plaque outward against the wall of the artery. This widens the artery and restores blood flow. Angioplasty is used to restore blood flow through a narrowed or blocked artery. During this procedure, a catheter (thin tube) with a balloon or other device on the end is inserted into a blocked artery. The balloon is inflated, which pushes the plaque outward against the wall of the artery. This widens the artery and restores blood flow. - A stent (a small mesh tube) may be placed in the artery during angioplasty. A stent helps keep the artery open after the procedure is done. Some stents are coated with medicine to help prevent blockages in the artery. A stent (a small mesh tube) may be placed in the artery during angioplasty. A stent helps keep the artery open after the procedure is done. Some stents are coated with medicine to help prevent blockages in the artery. - A procedure called atherectomy (ath-eh-REK-to-mee) may be used to remove plaque buildup from an artery. During the procedure, a catheter (thin tube) is used to insert a small cutting device into the blocked artery. The device is used to shave or cut off the plaque. The bits of plaque are removed from the body through the catheter or washed away in the bloodstream (if theyre small enough). Doctors also can do atherectomy using a special laser that dissolves the blockage. A procedure called atherectomy (ath-eh-REK-to-mee) may be used to remove plaque buildup from an artery. During the procedure, a catheter (thin tube) is used to insert a small cutting device into the blocked artery. The device is used to shave or cut off the plaque. The bits of plaque are removed from the body through the catheter or washed away in the bloodstream (if theyre small enough). Doctors also can do atherectomy using a special laser that dissolves the blockage.",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +what research (or clinical trials) is being done for Peripheral Arterial Disease (P.A.D.) ?,"The National Heart, Lung, and Blood Institute (NHLBI) supports research aimed at learning more about peripheral arterial disease (P.A.D.). For example, NHLBI-supported research on P.A.D. includes studies that - explore whether group walking sessions increase physical activity in people who have P.A.D. - compare how effective certain exercise programs are at reducing leg pain in people who have P.A.D. - examine how inflammation and insulin resistance affect people who have P.A.D. explore whether group walking sessions increase physical activity in people who have P.A.D. compare how effective certain exercise programs are at reducing leg pain in people who have P.A.D. examine how inflammation and insulin resistance affect people who have P.A.D. Much of this research depends on the willingness of volunteers to take part in clinical trials. Clinical trials test new ways to prevent, diagnose, or treat various diseases and conditions. Carefully conducted clinical trials are the fastest and safest way to find treatments that work in people and ways to improve health. For more information about clinical trials related to P.A.D., talk with your doctor. You also can visit the following Web sites to learn more about clinical research and to search for clinical trials. - http://www.nih.gov/health/clinicaltrials/ - http://www.clinicaltrials.gov/ - http://www.nhlbi.nih.gov/studies/index.htm - https://www.researchmatch.org/ - http://www.cleverstudy.org/ http://www.nih.gov/health/clinicaltrials/ http://www.clinicaltrials.gov/ http://www.nhlbi.nih.gov/studies/index.htm https://www.researchmatch.org/ http://www.cleverstudy.org/",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +What is (are) Peripheral Arterial Disease (P.A.D.) ?,"Here are links to more information about P.A.D. from the National Heart, Lung, and Blood Institute. - What Is Peripheral Arterial Disease? - Atherosclerosis - The DASH Eating Plan - Facts about P.A.D. - Facts about P.A.D. (Spanish) - Facts About P.A.D. for African Americans - Keep the Beat: Heart Healthy Recipes - Smoking and Your Heart - Your Guide to Physical Activity and Your Heart - Stay in Circulation: Take Steps to Learn about P.A.D. - Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card - Your Guide to Lowering Your Blood Pressure with DASH - Your Guide to Lowering Your Cholesterol with TLC What Is Peripheral Arterial Disease? Atherosclerosis The DASH Eating Plan Facts about P.A.D. Facts about P.A.D. (Spanish) Facts About P.A.D. for African Americans Keep the Beat: Heart Healthy Recipes Smoking and Your Heart Your Guide to Physical Activity and Your Heart Stay in Circulation: Take Steps to Learn about P.A.D. Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card Your Guide to Lowering Your Blood Pressure with DASH Your Guide to Lowering Your Cholesterol with TLC For print resources and materials on P.A.D. visit http://www.nhlbi.nih.gov/health/public/heart/pad/index.html",NIHSeniorHealth,Peripheral Arterial Disease (P.A.D.) +How to prevent Prescription and Illicit Drug Abuse ?,"Many Reasons for Abuse Drug abuse, whether prescription or illicit drugs, can have serious consequences, particularly for older adults. That is why prevention is key. However, there are many different reasons why people abuse drugs and become addicted to them. These reasons need to be taken into account when considering how to best prevent drug abuse. Family members, friends, pharmacists, and health care providers can all be involved in preventing drug abuse among older adults. Preventing Medication Abuse There are steps that you as a patient can take to prevent abuse of prescription medications and its consequences. - When visiting the doctor or pharmacist, bring along all prescription and over-the-counter medicines that you take -- or a list of the medicines and their dosages (how much you take and how often). Your doctor can make sure your medicines are right for you and make changes if necessary. - Always follow medication directions carefully. - Only use the medication for its prescribed purpose. - Do not crush or break pills. - If you are not sure how to take a medicine correctly, ask your doctor or pharmacist. He or she can tell you how to take a medication properly and about side effects to watch out for and interactions with other medications. - Ask how the medication will affect driving and other daily activities. - Do not use other people's prescription medications, and do not share yours. - Talk with your doctor before increasing or decreasing the medication dosage. When visiting the doctor or pharmacist, bring along all prescription and over-the-counter medicines that you take -- or a list of the medicines and their dosages (how much you take and how often). Your doctor can make sure your medicines are right for you and make changes if necessary. Always follow medication directions carefully. Only use the medication for its prescribed purpose. Do not crush or break pills. If you are not sure how to take a medicine correctly, ask your doctor or pharmacist. He or she can tell you how to take a medication properly and about side effects to watch out for and interactions with other medications. Ask how the medication will affect driving and other daily activities. Do not use other people's prescription medications, and do not share yours. Talk with your doctor before increasing or decreasing the medication dosage. - Do not stop taking a medicine on your own. Talk to your doctor if you are having side effects or other problems. - Learn about the medicines possible interactions with alcohol and other prescription and over-the-counter medicines, and follow your doctors instructions to avoid these interactions. - Answer honestly if a doctor or other health care professional asks you about other drug or alcohol use. Without that information, your doctor may not be able to provide you with the best care. Also, if you have a substance problem, he or she can help you find the right treatment to prevent more serious problems from developing, including addiction. Do not stop taking a medicine on your own. Talk to your doctor if you are having side effects or other problems. Learn about the medicines possible interactions with alcohol and other prescription and over-the-counter medicines, and follow your doctors instructions to avoid these interactions. Answer honestly if a doctor or other health care professional asks you about other drug or alcohol use. Without that information, your doctor may not be able to provide you with the best care. Also, if you have a substance problem, he or she can help you find the right treatment to prevent more serious problems from developing, including addiction. For tips on safe use of medicines for older adults, see Taking Medicines Safely."" Preventing Illicit Drug Use Preventing illicit drug use in older adults requires first knowing what contributes to it. For people of all ages, an individuals biology (including their genetics) and the environment, as well as how the two act together, determine a persons vulnerability to drug abuse and addiction -- or can protect against it. For example, being exposed to drugs of abuse in youth, living in a community where drug use is prevalent, having untreated mental disorders, such as depression, or dealing with difficult transition periods such as retirement or loss of a spouse can all make an older adult more vulnerable to drug abuse. Prevention Requires Various Approaches Prevention efforts must focus on gaining a better understanding of the factors that promote illicit drug use in older adults. Prevention also includes finding ways to stop drug use before it worsens and leads to health problems, including addiction. Family members can play an important role by being aware of an older relatives well-being and possible drug abuse, and stepping in to help at an early stage, if necessary. Doctors should ask their older patients about potential drug abuse and make referrals as needed.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What is (are) Prescription and Illicit Drug Abuse ?,"Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or put others in danger. For more on drugs and the brain, see Drugs, Brains and Behavior: The Science of Addiction.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What is (are) Prescription and Illicit Drug Abuse ?,"Physical dependence is a normal process that can happen to anyone taking a medication for a long time. It means that the body (including the brain) is adapting to the presence of the drug, and the person may require a higher dosage or a different medication to get relief; this condition is known as tolerance. They may also suffer from withdrawal or feel sick when they stop taking the medication abruptly. However, the symptoms of withdrawal can usually be prevented or managed by a physician, which is why it is so important to talk to a doctor before stopping a medication. Someone who is addicted to a drug may also be physically dependent on it, but rather than benefitting from the drugs effects, an addicted person will continue to get worse with continued or increasing drug abuse. An addicted person compulsively seeks and abuses drugs, despite their negative consequences.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the symptoms of Prescription and Illicit Drug Abuse ?,"A persons behavior, especially changes in behavior, can signal a possible substance abuse problem. For example, you may notice that an older adult seems worried about whether a medicine is really working, or complains that a doctor refuses to write a prescription. He or she may have new problems doing everyday tasks or withdraw from family, friends, and normal activities. Other possible warning signs include - rapid increases in the amount of medication needed - frequent requests for refills of certain medicines - a person not seeming like themselves (showing a general lack of interest or being overly energetic) - ""doctor shopping"" -- moving from provider to provider in an effort to get several prescriptions for the same medication - use of more than one pharmacy - false or forged prescriptions. rapid increases in the amount of medication needed frequent requests for refills of certain medicines a person not seeming like themselves (showing a general lack of interest or being overly energetic) ""doctor shopping"" -- moving from provider to provider in an effort to get several prescriptions for the same medication use of more than one pharmacy false or forged prescriptions.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What is (are) Prescription and Illicit Drug Abuse ?,"The prescription medications most commonly abused by people of any age are opioids (painkillers), depressants, and stimulants. Doctors prescribe opioids to relieve pain and, sometimes, to treat severe coughs and diarrhea. Common opioid prescription medications include the following: - morphine (MS Contin, Kadian, Avinza), which is used before and after surgical procedures to treat severe pain - codeine (Tylenol with Codeine, Robitussin AC), which is prescribed for mild pain - hydrocodone (Vicodin, Lortab, Zydone), which is prescribed to relieve moderate to severe pain - oxycodone (OxyContin, Percodan, Percocet, Tylox, Roxicet), which is used to relieve moderate to severe pain - fentanyl (Duragesic), which is a strong pain medication typically delivered through a pain patch and prescribed for severe ongoing pain morphine (MS Contin, Kadian, Avinza), which is used before and after surgical procedures to treat severe pain codeine (Tylenol with Codeine, Robitussin AC), which is prescribed for mild pain hydrocodone (Vicodin, Lortab, Zydone), which is prescribed to relieve moderate to severe pain oxycodone (OxyContin, Percodan, Percocet, Tylox, Roxicet), which is used to relieve moderate to severe pain fentanyl (Duragesic), which is a strong pain medication typically delivered through a pain patch and prescribed for severe ongoing pain For more on opioids, see What Are the Possible Consequences of Opioid Use and Abuse?"" Depressants are used to treat anxiety and sleep disorders. The types of depressants that are most commonly abused are barbiturates (Secobarbital ,Mebaral and Nembutal) and benzodiazepines (Valium, Librium, and Xanax). For more on depressants, see What Are the Possible Consequences of CNS Depressant Use and Abuse?"" Stimulants are used to treat narcolepsy (a sleep disorder), attention deficit hyperactivity disorder (ADHD), and depression that has not responded to other treatments. These medications increase alertness, attention, and energy. Stimulants include methylphenidate (Ritalin and Concerta), and amphetamines (Adderall). For more on stimulants, see What Are the Possible Consequences of Stimulant Use and Abuse?""",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What causes Prescription and Illicit Drug Abuse ?,"Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. If you take medications the wrong way or abuse illicit drugs, this can have a serious effect on your health and make existing health problems worse. As people age, they may also become more sensitive to alcohols effects. For more information on the dangers of mixing alcohol and medicines, see Alcohol Use and Older Adults.""",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What is (are) Prescription and Illicit Drug Abuse ?,Marijuana is the most abused illicit drug among people 50 and older.,NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"Although under federal law, marijuana is illegal to use under any circumstance, in some states doctors are allowed to prescribe it for medical use. However, solid data on marijuanas health benefits is lacking, and for smoked marijuana many health experts have concerns about the potential negative effects on the lungs and respiratory system. The U.S. Food and Drug Administration has not approved smoked marijuana to treat any disease. They have approved two medications that are chemically similar to marijuana to treat wasting disease (extreme weight loss) in people with AIDS and to treat nausea and vomiting associated with cancer treatment.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the symptoms of Prescription and Illicit Drug Abuse ?,"Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"Depending on the substance(s) involved, treatment may include medications, behavioral treatments, or a combination. A doctor, substance abuse counselor, or other health professional can determine the right treatment for an individual. Treatment helps people reduce the powerful effects of drugs on the body and brain. In doing so, treatment helps people improve their physical health and everyday functioning and regain control of their lives. Once in treatment, older adults do just as well or better than younger adults.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,People can receive treatment as outpatients (they live at home and visit the doctor or other provider) or through inpatient services (they live temporarily at a special facility where they get treatment). The support of family and friends is important during the treatment process.,NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"The first step in a substance treatment program is often detoxification (detox), the process of allowing the body to get rid of the substance. Detoxification under medical supervision allows the symptoms of withdrawal to be treated, but is not addiction treatment in and of itself. (Withdrawal is the sick, sometimes unbearable feeling that people have when trying to stop or cut down on a substance they have become addicted to or have been taking for a long time.)The type of withdrawal symptoms and how long they last vary with the substance abused. For example, withdrawal from certain stimulants may lead to fatigue, depression, and sleep problems. Unsupervised withdrawal from barbiturates and benzodiazepines can be dangerous.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"Different types of medications may be useful at different stages of treatment to help a person stop abusing a substance, stay in treatment, focus on learning new behavioral skills, and avoid relapse. Currently, medications are available to treat addiction to opiates, nicotine, and alcohol, but none are yet approved for treating addiction to stimulants, marijuana, or depressants. Medications for substance abuse treatment help the brain adjust to the absence of the abused substance. These medications act slowly to stave off drug cravings and prevent relapse. For example, buprenorphine, marketed as Subutex or Suboxone, is prescribed by approved physicians to treat people who are addicted to opiate drugs, such as painkillers or heroin. Buprenorphine is useful in the short-term detoxification process by helping ease withdrawal symptoms and in the long-term by staving off cravings and helping prevent relapse. For more on treating opioid addiction, seeTreating Addiction to Prescription Opioids."" For information on treating addiction to depressants, see ""Treating Addiction to CNS Depressants."" For information on treating addiction to stimulants, see Treating Addiction to Prescription Stimulants.""",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"Behavioral treatment helps people change the way they think about the abused substance and teaches them how to handle or avoid situations that trigger strong drug cravings. Behavioral therapies can make treatment medications more effective, help people stay in treatment longer, and prevent relapse. There are four main types of behavioral treatments. - Cognitive behavioral therapy seeks to help people recognize, avoid, and cope with situations in which they are most likely to abuse substances. Cognitive behavioral therapy seeks to help people recognize, avoid, and cope with situations in which they are most likely to abuse substances. - Motivational incentives offer rewards or privileges for attending counseling sessions, taking treatment medications, and not abusing substances. Motivational incentives offer rewards or privileges for attending counseling sessions, taking treatment medications, and not abusing substances. - Motivational interviewing is typically conducted by a treatment counselor and occurs when a person first enters a drug treatment program. It aims to get people to recognize the need for treatment and to take an active role in their recovery. Motivational interviewing is typically conducted by a treatment counselor and occurs when a person first enters a drug treatment program. It aims to get people to recognize the need for treatment and to take an active role in their recovery. - Group therapy, preferably with ones own age group, helps people face their substance abuse and the harm it causes. It teaches skills for dealing with personal problems without abusing medications or drugs. Group therapy, preferably with ones own age group, helps people face their substance abuse and the harm it causes. It teaches skills for dealing with personal problems without abusing medications or drugs.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What are the treatments for Prescription and Illicit Drug Abuse ?,"Recovering from addiction is hard. Even with treatment, many people return to substance abuse, sometimes months or years after having stopped drug use. This is commonly referred to as relapse. As with most chronic diseases, relapse in addiction is not unusual, and signals a need to restart, adjust, or modify the treatment.",NIHSeniorHealth,Prescription and Illicit Drug Abuse +What is (are) Cataract ?,"A Clouding of the Lens in the Eye A cataract is a clouding of the lens in the eye that affects vision. The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Cataracts and Aging Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery.",NIHSeniorHealth,Cataract +Who is at risk for Cataract? ?,"Age-related cataracts develop in two ways. - Clumps of protein reduce the sharpness of the image reaching the retina. - The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Clumps of protein reduce the sharpness of the image reaching the retina. The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Protein Clumpings Cloud the Lens The lens consists mostly of water and protein. When the protein clumps up, it clouds the lens and reduces the light that reaches the retina. The clouding may become severe enough to cause blurred vision. Most age-related cataracts develop from protein clumpings. When a cataract is small, the cloudiness affects only a small part of the lens. You may not notice any changes in your vision. Cataracts tend to grow slowly, so vision gets worse gradually. Over time, the cloudy area in the lens may get larger, and the cataract may increase in size. Seeing may become more difficult. Your vision may get duller or blurrier. Discoloration of the Lens Cataracts cause the lens to change to a yellowish/brownish color. As the clear lens slowly colors with age, your vision gradually may acquire a brownish shade. At first, the amount of tinting may be small and may not cause a vision problem. Over time, increased tinting may make it more difficult to read and perform other routine activities. This gradual change in the amount of tinting does not affect the sharpness of the image transmitted to the retina. If you have advanced lens discoloration, you may not be able to identify blues and purples. You may be wearing what you believe to be a pair of black socks, only to find out from friends that you are wearing purple socks. Risk Factors The risk of cataract increases as you get older. Other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.",NIHSeniorHealth,Cataract +Who is at risk for Cataract? ?,"There are several things you can do to lower your risk for cataract. They include - having regular eye exams - quitting smoking - wearing sunglasses - taking care of other health problems - maintaining a healthy weight - choosing a healthy diet. having regular eye exams quitting smoking wearing sunglasses taking care of other health problems maintaining a healthy weight choosing a healthy diet. Get Regular Eye Exams Be sure to have regular comprehensive eye exams. If you are age 60 or older, you should have a comprehensive dilated eye exam at least once a year. Eye exams can help detect cataracts and other age-related eye problems at their earliest stages. In addition to cataract, your eye care professional can check for signs of age-related macular degeneration, glaucoma, and other vision disorders. For many eye diseases, early treatment may save your sight. For more on comprehensive eye exams, see the chapter on Symptoms and Detection. Quit Smoking Ask your doctor for help to stop smoking. Medications, counseling and other strategies are available to help you. Wear Sunglasses Ultraviolet light from the sun may contribute to the development of cataracts. Wear sunglasses that block ultraviolet B (UVB) rays when you're outdoors. Take Care of Other Health Problems Follow your treatment plan if you have diabetes or other medical conditions that can increase your risk of cataracts. Maintain a Healthy Weight If your current weight is a healthy one, work to maintain it by exercising most days of the week. If you're overweight or obese, work to lose weight slowly by reducing your calorie intake and increasing the amount of exercise you get each day. Choose a Healthy Diet Choose a healthy diet that includes plenty of fruits and vegetables. Adding a variety of colorful fruits and vegetables to your diet ensures that you're getting a lot of vitamins and nutrients. Fruits and vegetables are full of antioxidants, which in theory could prevent damage to your eye's lens. Studies haven't proven that antioxidants in pill form can prevent cataracts. But fruits and vegetables have many proven health benefits and are a safe way to increase the amount of vitamins in your diet. Choose a Healthy Diet Choose a healthy diet that includes plenty of fruits and vegetables. Adding a variety of colorful fruits and vegetables to your diet ensures that you're getting a lot of vitamins and nutrients. Fruits and vegetables are full of antioxidants, which in theory could prevent damage to your eye's lens. Studies haven't proven that antioxidants in pill form can prevent cataracts. But fruits and vegetables have many proven health benefits and are a safe way to increase the amount of vitamins in your diet.",NIHSeniorHealth,Cataract +What are the symptoms of Cataract ?,"Common Symptoms The most common symptoms of a cataract are - cloudy or blurry vision and poor night vision - glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. cloudy or blurry vision and poor night vision glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights double vision or multiple images in one eye frequent prescription changes in your eyeglasses or contact lenses. Tests for Cataract Cataract is detected through a comprehensive eye exam that includes a visual acuity test, dilated eye exam, and tonometry. Tests for Cataract - The visual acuity test is an eye chart test that measures how well you see at various distances. - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. - In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. The visual acuity test is an eye chart test that measures how well you see at various distances. In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. Dealing with Symptoms The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens.",NIHSeniorHealth,Cataract +What are the treatments for Cataract ?,"A cataract needs to be removed only when vision loss interferes with your everyday activities, such as driving, reading, or watching TV. You and your eye care professional can make this decision together. Is Surgery Right For You? Once you understand the benefits and risks of surgery, you can make an informed decision about whether cataract surgery is right for you. In most cases, delaying cataract surgery will not cause long-term damage to your eye or make the surgery more difficult. You do not have to rush into surgery. Sometimes a cataract should be removed even if it does not cause problems with your vision. For example, a cataract should be removed if it prevents examination or treatment of another eye problem, such as age-related macular degeneration or diabetic retinopathy. If you choose surgery, your eye care professional may refer you to a specialist to remove the cataract. If you have cataracts in both eyes that require surgery, the surgery will be performed on each eye at separate times, usually four to eight weeks apart. Cataract removal is one of the most common operations performed in the United States. It also is one of the safest and most effective types of surgery. In about 90 percent of cases, people who have cataract surgery have better vision afterward. Types of Cataract Surgery There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. Your doctor inserts a tiny probe into the eye. This device emits ultrasound waves that soften and break up the lens so that it can be removed by suction. Most cataract surgery today is done by phacoemulsification, also called small incision cataract surgery. With extracapsular surgery, your doctor makes a longer incision on the side of the cornea and removes the cloudy core of the lens in one piece. The rest of the lens is removed by suction. An Artificial Lens Replaces the Natural Lens After the natural lens has been removed, it usually is replaced by an artificial lens, called an intraocular lens, or IOL. An IOL is a clear, plastic lens that requires no care and becomes a permanent part of your eye. Light is focused clearly by the IOL onto the retina, improving your vision. You will not feel or see the new lens. The operation usually lasts less than one hour and is almost painless. Many people choose to stay awake during surgery. You can return quickly to many everyday activities, but your vision may be blurry. The healing eye needs time to adjust so that it can focus properly with the other eye, especially if the other eye has a cataract. Ask your doctor when you can resume driving. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataract. If you smoke, stop. Researchers also believe good nutrition can help reduce the risk of age-related cataract. They recommend eating green leafy vegetables, fruit, and other foods with antioxidants. If you are age 60 or older, you should have a comprehensive dilated eye exam at least once a year. In addition to cataract, your eye care professional can check for signs of age-related macular degeneration, glaucoma, and other vision disorders. For many eye diseases, early treatment may save your sight.",NIHSeniorHealth,Cataract +What is (are) Cataract ?,"A cataract is a clouding of the lens in the eye that affects vision. Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other.",NIHSeniorHealth,Cataract +What is (are) Cataract ?,"The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. The lens must be clear for the retina to receive a sharp image. If the lens is cloudy from a cataract, the image you see will be blurred.",NIHSeniorHealth,Cataract +Who is at risk for Cataract? ?,"The risk of cataract increases as you get older. Besides age, other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.",NIHSeniorHealth,Cataract +What are the symptoms of Cataract ?,"The most common symptoms of a cataract are - cloudy or blurry vision - colors seem faded - glare -- headlights, lamps, or sunlight appearing too bright, or a halo may appear around lights - poor night vision - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. cloudy or blurry vision colors seem faded glare -- headlights, lamps, or sunlight appearing too bright, or a halo may appear around lights poor night vision double vision or multiple images in one eye frequent prescription changes in your eyeglasses or contact lenses. These symptoms can also be a sign of other eye problems. If you have any of these symptoms, check with your eye care professional.",NIHSeniorHealth,Cataract +What is (are) Cataract ?,"Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract - traumatic cataract - congenital cataract - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. Secondary cataracts can form after surgery for other eye problems, such as glaucoma. They also can develop in people who have other health problems, such as diabetes. Secondary cataracts are sometimes linked to steroid use. Traumatic cataracts can develop after an eye injury, sometimes years later. Some babies are born with cataracts or develop them in childhood, often in both eyes. These congenital cataracts may be so small that they do not affect vision. If they do, the lenses may need to be removed. Radiation cataracts can develop after exposure to some types of radiation.",NIHSeniorHealth,Cataract +Who is at risk for Cataract? ?,"Here are several things you can do to lower your risk for cataract. Have regular eye exams. Eye exams can help detect cataracts and other age-related eye problems at their earliest stages. If you are age 60 or older, you should have a comprehensive dilated eye exam at least once a year. In addition to cataract, your eye care professional can check for signs of age-related macular degeneration, glaucoma, and other vision disorders. For many eye diseases, early treatment may save your sight. Quit smoking. Ask your doctor for help to stop smoking. Medications, counseling and other strategies are available to help you. Wear sunglasses. Wear sunglasses that block ultraviolet B (UVB) rays when you're outdoors. Take care of other health problems. Follow your treatment plan if you have diabetes or other medical conditions that can increase your risk of cataracts. Maintain a healthy weight. If your current weight is a healthy one, work to maintain it by exercising most days of the week. If you're overweight or obese, work to lose weight slowly by reducing your calorie intake and increasing the amount of exercise you get each day. Choose a healthy diet. A diet that includes plenty of colorful fruits and vegetables ensures that you're getting a lot of vitamins and nutrients, which in theory could prevent damage to your eye's lens.",NIHSeniorHealth,Cataract +What are the treatments for Cataract ?,"The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens.",NIHSeniorHealth,Cataract +What is (are) Cataract ?,"Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. Your doctor inserts a tiny probe into the eye. This device emits ultrasound waves that soften and break up the lens so that it can be removed by suction. Most cataract surgery today is done by phacoemulsification, also called ""small incision cataract surgery."" With extracapsular surgery, your doctor makes a longer incision on the side of the cornea and removes the cloudy core of the lens in one piece. The rest of the lens is removed by suction.",NIHSeniorHealth,Cataract +Who is at risk for Cataract? ?,"As with any surgery, cataract surgery poses risks such as infection and bleeding. Before cataract surgery, your doctor may ask you to temporarily stop taking certain medications that increase the risk of bleeding during surgery. After surgery, you must keep your eye clean, wash your hands before touching your eye, and use the prescribed medications to help minimize the risk of infection. Serious infection can result in loss of vision. Cataract surgery slightly increases your risk of retinal detachment. Other eye disorders, such as nearsightedness, can further increase your risk of retinal detachment after cataract surgery. A retinal detachment causes no pain. Early treatment for retinal detachment often can prevent permanent loss of vision. The longer the retina stays detached, the less likely you will regain good vision once you are treated. Even if you are treated promptly, some vision may be lost. Talk to your eye care professional about these risks. Make sure cataract surgery is right for you.",NIHSeniorHealth,Cataract +What is (are) Cataract ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov For more information about intraocular lenses, or IOLs, contact: U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993-0002 1-888-463-6332 E-mail: webmail@oc.fda.gov",NIHSeniorHealth,Cataract +Who is at risk for Creating a Family Health History? ?,"Diseases Can Have Various Causes Many things influence your overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease. Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors. The importance of any particular factor varies from person to person. If you have a disease, does that mean your children and grandchildren will get it, too? Not necessarily. They may have a greater chance of developing the disease than someone without a similar family history. But they are not certain to get the disease. (Watch the video to learn more about why family health history is important. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Health Problems That May Run in Families Common health problems that can run in a family include: - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention) Heritable Diseases Some diseases are clearly heritable. This means the disease comes from a mutation, or harmful change, in a gene inherited from one or both parents. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, cystic fibrosis, and muscular dystrophy. Learn basic information about chromosomes. Learn basic information about DNA. Role of Lifestyle and Environment Genes are not the only things that cause disease. Lifestyle habits and environment also play a major part in developing disease. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. For common diseases like heart disease and cancer, habits like smoking or drinking too much alcohol may be more important in causing disease than genes. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer. Clues to Your Disease Risk Creating a family health history helps you know about diseases and disease risks. It can also show the way a disease occurs in a family. For example, you may find that a family member had a certain disease at an earlier age than usual (10 to 20 years before most people get it). That can increase other family members' risk. Risk also goes up if a relative has a disease that usually does not affect a certain gender, for example, breast cancer in a man. Certain combinations of diseases within a family -- such as breast and ovarian cancer, or heart disease and diabetes -- also increase the chance of developing those diseases. Some Risk Factors Are Not Apparent Even if they appear healthy, people could be at risk for developing a serious disease that runs in the family. They could have risk factors that they cannot feel, such as high blood pressure. They might not even know the disease runs in their family because they've lost touch with family members with the disease or because other family members with the disease have kept the information private. Another possibility is that family members who might have developed the disease died young in accidents or by other means. They might also be adopted and not share genes with members of their adoptive family. Getting Professional Advice Family members who think they might be at risk for a disease based on their family health history can ask their health care professionals for advice. The professional may order a test to see if the person has the disease or a risk factor for the disease. For instance, a mammogram can detect possible breast cancer, and a colonoscopy can find colon cancer. Many diseases are more treatable if they are caught early. The first step toward better understanding of your family's health is to learn more about the health of close relatives such as parents, brothers and sisters, and children. Creating a family health history is one way to do that.",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"A family health history is a written record of the diseases and health conditions within a family. It provides information about family members' medical histories, lifestyle habits, and early living environments.",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"A heritable disease is caused by a mutation, or harmful change, in a gene inherited from a parent. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, sickle cell anemia, and muscular dystrophy. Most diseases that run in the family are not strictly genetic. Learn basic information about chromosomes. Learn basic information about DNA.",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention)",NIHSeniorHealth,Creating a Family Health History +What causes Creating a Family Health History ?,"Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer.",NIHSeniorHealth,Creating a Family Health History +How to prevent Creating a Family Health History ?,"People can't change the genes they inherit from their parents, but they can change other things to prevent diseases that run in the family. This is good news because many diseases result from a combination of a person's genes, lifestyle, and environment. Actions to reduce the risk of disease may involve lifestyle changes, such as eating healthier foods, exercising more, getting certain medical tests, and taking medicines that are more effective based on your specific genes. Ask your doctor or health care professional for advice.",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"Here are important questions to ask your blood relatives. - What is your age or date of birth? - Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? - Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) - How old were you when you developed these illnesses? - Have you or your partner had any problems with pregnancies or childbirth? What is your age or date of birth? Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) How old were you when you developed these illnesses? Have you or your partner had any problems with pregnancies or childbirth? Other questions to ask your blood relatives include - What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) - Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? - What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths? What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths?",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. Offer to share your health history when it is done. Encourage relatives to create their own health histories. It's important to find the right time to talk about family health. Family get-togethers like holidays, vacations, and reunions might be good opportunities. Some people may prefer to share health information privately, in person or by telephone. You can also contact family members by mail or e-mail. Be sure to take notes or record the conversations with a tape recorder or video camera to help you remember.",NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,Talk to other family members. You can also obtain a death certificate from a state or county vital statistics office to confirm a late relative's cause of death. Funeral homes and online obituaries may also have this information.,NIHSeniorHealth,Creating a Family Health History +What is (are) Creating a Family Health History ?,"In a genetic test, a small sample of blood, saliva, or tissue is taken to examine a person's genes. Sometimes, genetic testing can detect diseases that may be preventable or treatable. This type of testing is available for thousands of conditions.",NIHSeniorHealth,Creating a Family Health History +How to diagnose Creating a Family Health History ?,"Genetic testing may be helpful whether the test identifies a mutation or not. Test results can - serve as a relief, eliminating some of the uncertainty about a health condition - help doctors make recommendations for treatment or monitoring - give people information to use in making decisions about their and their familys health - help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits - help people make informed choices about their future, such as whether to have a baby. serve as a relief, eliminating some of the uncertainty about a health condition help doctors make recommendations for treatment or monitoring give people information to use in making decisions about their and their familys health help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits help people make informed choices about their future, such as whether to have a baby.",NIHSeniorHealth,Creating a Family Health History +How to diagnose Creating a Family Health History ?,"Finding out your test results can affect you emotionally. Learning that you are someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results. Covering the costs of testing can also be a challenge. Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing. Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see The Genetic Information Nondiscrimination Act of 2008.",NIHSeniorHealth,Creating a Family Health History +What is (are) Shingles ?,"Shingles is a painful rash that develops on one side of the face or body. The rash forms blisters that typically scab over in 7 to 10 days and clear up within 2 to 4 weeks. Most commonly, the rash occurs in a single stripe around either the left or the right side of the body. In other cases, the rash occurs on one side of the face. In rare cases (usually among people with weakened immune systems), the rash may be more widespread and look similar to a chickenpox rash. Shingles is very common. Fifty percent of all Americans will have had shingles by the time they are 80. While shingles occurs in people of all ages, it is most common in 60- to 80-year-olds. In fact, one out of every three people 60 years or older will get shingles. (Watch the video to learn more about shingles. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) What Causes Shingles? Shingles is caused by a reactivation of the chickenpox virus. It is distinctive because it affects only one side of the body. The early signs of shingles usually develop in three stages: severe pain or tingling, possibly itchy rash, and blisters that look like chickenpox. The virus that causes shingles is a herpes virus, (Another name for shingles is herpes zoster.) Once you are infected with this kind of virus, it remains in your body for life. It stays inactive until a period when your immunity is down. Shingles and Pain The most common complication of shingles is pain -- a condition called post-herpetic neuralgia (PHN). People with PHN have severe pain in the areas where they had the shingles rash, even after the rash clears up. In most patients, the pain usually clears up in a few weeks or months, but some people can have pain from PHN for years. Persistent pain from shingles is a common symptom in people over 60. In fact, one out of six people older than 60 years who get shingles will have severe pain. As people get older, they are more likely to develop long-term pain as a complication of shingles and the pain is likely to be more severe. Other Complications Shingles may also lead to other serious complications. - Outbreaks that start on the face or eyes can cause vision or hearing problems. Even permanent blindness can result if the cornea of the eye is affected. - Bacterial infection of the open sores can lead to scarring. Outbreaks that start on the face or eyes can cause vision or hearing problems. Even permanent blindness can result if the cornea of the eye is affected. Bacterial infection of the open sores can lead to scarring. - In a very small number of cases, bacteria can cause more serious conditions, including toxic shock syndrome and necrotizing fasciitis, a severe infection that destroys the soft tissue under the skin. - The burning waves of pain, loss of sleep, and interference with even basic life activities can cause serious depression. - In patients with immune deficiency, the rash can be much more extensive than usual and the illness can be complicated by pneumonia. These cases are more serious, but they are rarely fatal. - Very rarely, shingles can also lead to pneumonia, brain inflammation (encephalitis), or death. In a very small number of cases, bacteria can cause more serious conditions, including toxic shock syndrome and necrotizing fasciitis, a severe infection that destroys the soft tissue under the skin. The burning waves of pain, loss of sleep, and interference with even basic life activities can cause serious depression. In patients with immune deficiency, the rash can be much more extensive than usual and the illness can be complicated by pneumonia. These cases are more serious, but they are rarely fatal. Very rarely, shingles can also lead to pneumonia, brain inflammation (encephalitis), or death. Shingles Usually Does Not Return People who develop shingles usually have only one episode in their lifetime. However, a person can have a second or even a third episode. The Shingles Vaccine Adults 60 years old or older should talk to their healthcare professional about getting a one-time dose of the shingles vaccine. The vaccine can reduce your risk of shingles and the long-term pain it can cause. If you have already had shingles or you have a chronic medical condition, you can receive the shingles vaccine. (See more about the shingles vaccine in the chapter Prevention.) Is Shingles Contagious? Shingles cannot be passed from one person to another. However, the virus that causes shingles, the varicella zoster virus, can be spread from a person with active shingles to another person who has never had chickenpox. In such cases, the person exposed to the virus might develop chickenpox, but they would not develop shingles. The virus is spread through direct contact with fluid from the rash blisters caused by shingles. A person with active shingles can spread the virus when the rash is in the blister phase. A person is not infectious before the blisters appear. Once the rash has developed crusts, the person is no longer contagious. Shingles is less contagious than chickenpox and the risk of a person with shingles spreading the virus is low if the rash is covered. If You Have Shingles If you have shingles, - keep the rash covered - avoid touching or scratching the rash - wash your hands often to prevent the spread of varicella zoster virus. keep the rash covered avoid touching or scratching the rash wash your hands often to prevent the spread of varicella zoster virus. Until your rash has developed crusts, avoid contact with - pregnant women who have never had chickenpox or the chickenpox vaccine - premature or low birth weight infants - people with weakened immune systems, such as people receiving immunosuppressive medications or undergoing chemotherapy, organ transplant recipients, and people with human immunodeficiency virus (HIV) infection. pregnant women who have never had chickenpox or the chickenpox vaccine premature or low birth weight infants people with weakened immune systems, such as people receiving immunosuppressive medications or undergoing chemotherapy, organ transplant recipients, and people with human immunodeficiency virus (HIV) infection. If you have not had chickenpox and you come into contact with someone who has shingles, ask your healthcare provider whether you should get a chickenpox vaccination. To learn more, see ""What You Need to Know about Shingles and the Shingles Vaccine.""",NIHSeniorHealth,Shingles +What causes Shingles ?,"Caused By A Virus Shingles is caused by a virus called varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores healed and the other symptoms went away, but the virus remained. It is with you for life. The virus hides out in nerve cells, usually in the spine. But it can become active again. Somehow, the virus gets a signal that your immunity has become weakened. This triggers the reactivation. When the virus becomes active again, it follows a nerve path called a dermatome. The nerve path begins at specific points in the spine, continues around one side of the body, and surfaces at the nerve endings in the skin. The pattern of the rash reflects the location of that nerve path. Risk Factors The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Stress is another factor that may contribute to outbreaks. While stress alone does not cause the outbreaks, shingles often occurs in people who have recently had a stressful event in their lives. Most cases of shingles occur in adults. Only about 5 percent of cases occur in children. With children, immune deficiency is the primary risk factor, but children who had chickenpox before they were one year old may also get shingles before they become adults. There have been studies of adults who had chickenpox as children and were later exposed to children who had chickenpox. Interestingly, that exposure apparently boosted the adult's immunity, which actually helped them avoid getting shingles later in life.",NIHSeniorHealth,Shingles +How to prevent Shingles ?,"A Vaccine for Adults 60 and Older In May 2006, the U.S. Food and Drug Administration approved a vaccine (Zostavax) to prevent shingles in people age 60 and older. The vaccine is designed to boost the immune system and protect older adults from getting shingles later on. Even if you have had shingles, you can still get the shingles vaccine to help prevent future occurrences of the disease. There is no maximum age for getting the vaccine, and only a single dose is recommended. In a clinical trial involving thousands of adults 60 years old or older, the vaccine reduced the risk of shingles by about half. A One-time Dose To reduce the risk of shingles, adults 60 years old or older should talk to their healthcare professional about getting a one-time dose of the shingles vaccine. Even if the shingles vaccine doesnt prevent you from getting shingles, it can still reduce the chance of having long-term pain. If you have had shingles before, you can still get the shingles vaccine to help prevent future occurrences of the disease. There is no maximum age for getting the vaccine. Side Effects Vaccine side effects are usually mild and temporary. In most cases, shingles vaccine causes no serious side effects. Some people experience mild reactions that last up to a few days, such as headache or redness, soreness, swelling, or itching where the shot was given. When To Get the Vaccine The decision on when to get vaccinated should be made with your health care provider. The shingles vaccine is not recommended if you have active shingles or pain that continues after the rash is gone. Although there is no specific time that you must wait after having shingles before receiving the shingles vaccine, you should generally make sure that the shingles rash has disappeared before getting vaccinated. Where To Get the Vaccine The shingles vaccine is available in doctors offices, pharmacies, workplaces, community health clinics, and health departments. Most private health insurance plans cover recommended vaccines. Check with your insurance provider for details and for a list of vaccine providers. Medicare Part D plans cover shingles vaccine, but there may be costs to you depending on your specific plan. If you do not have health insurance, visit www.healthcare.gov to learn more about health insurance options. Who Should Not Get the Vaccine? You should NOT get the shingles vaccine if you - have an active case of shingles or have pain that continues after the rash is gone - have ever had a life-threatening or severe allergic reaction to gelatin, the antibiotic neomycin, or any other component of the shingles vaccine. Tell your doctor if you have any severe allergies. - have a weakened immune system because of: -- HIV/AIDS or another disease that affects the immune system -- treatment with drugs that affect the immune system, such as steroids -- cancer treatment such as radiation or chemotherapy -- cancer affecting the bone marrow or lymphatic system, such as leukemia or lymphoma. have an active case of shingles or have pain that continues after the rash is gone have ever had a life-threatening or severe allergic reaction to gelatin, the antibiotic neomycin, or any other component of the shingles vaccine. Tell your doctor if you have any severe allergies. have a weakened immune system because of: -- HIV/AIDS or another disease that affects the immune system -- treatment with drugs that affect the immune system, such as steroids -- cancer treatment such as radiation or chemotherapy -- cancer affecting the bone marrow or lymphatic system, such as leukemia or lymphoma. - are pregnant or might be pregnant. are pregnant or might be pregnant. To learn more about the vaccine, see Zostavax: Questions and Answers. Could Vaccines Make Shingles a Rare Disease? The shingles vaccine is basically a stronger version of the chickenpox vaccine, which became available in 1995. The chickenpox shot prevents chickenpox in 70 to 90 percent of those vaccinated, and 95 percent of the rest have only mild symptoms. Millions of children and adults have already received the chickenpox shot. Interestingly, the chickenpox vaccine may reduce the shingles problem. Widespread use of the chickenpox vaccine means that fewer people will get chickenpox in the future. And if people do not get chickenpox, they cannot get shingles. Use of the shingles and chickenpox vaccines may one day make shingles a rare disease. To find out more, visit Shingles Vaccination: What You Need to Know or Shingles Vaccine)",NIHSeniorHealth,Shingles +What are the symptoms of Shingles ?,"Burning, Itching, Tingling, Then a Rash An outbreak of shingles usually begins with a burning, itching, or tingling sensation on the back, chest, or around the rib cage or waist. It is also common for the face or eye area to be affected. (Watch the video to learn more about one woman's experience with shingles. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Some people report feeling feverish and weak during the early stages. Usually within 48 to 72 hours, a red, blotchy rash develops on the affected area. The rash erupts into small blisters that look like chickenpox. The blisters seem to arrive in waves over a period of three to five days. Blisters The blisters tend to be clustered in one specific area, rather than being scattered all over the body like chickenpox. The torso or face are the parts most likely to be affected, but on occasion, shingles breaks out in the lower body. The burning sensation in the rash area is often accompanied by shooting pains. After the blisters erupt, the open sores take a week or two to crust over. The sores are usually gone within another two weeks. The pain may diminish somewhat, but it often continues for months -- and can go on for years. Pain Shingles can be quite painful. Many shingles patients say that it was the intense pain that ultimately sent them to their healthcare provider. They often report that the sensation of anything brushing across the inflamed nerve endings on the skin is almost unbearable. Diagnosis is Usually Easy for Healthcare Providers A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. A healthcare provider usually confirms a diagnosis of shingles if the person also - reports a sharp, burning pain - has had chickenpox - has blisters that look like chickenpox - is elderly. reports a sharp, burning pain has had chickenpox has blisters that look like chickenpox is elderly. If the Diagnosis Is Unclear Some people go to their healthcare provider because of burning, painful, itchy sensations on one area of skin, but they don't get a rash. If there is no rash, the symptoms can be difficult to diagnose because they can be mistaken for numerous other diseases. In cases where there is no rash or the diagnosis is questionable, healthcare providers can do a blood test. If there is a rash, but it does not resemble the usual shingles outbreak, a healthcare provider can examine skin scrapings from the sores.",NIHSeniorHealth,Shingles +What are the treatments for Shingles ?,"If You Suspect Shingles If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash.Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. (Watch the video to learn more about shingles treatments. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Antivirals and Other Treatments At the early stage of shingles, a healthcare provider will usually prescribe antiviral pills. These antiviral medicines include acyclovir, valacyclovir, or famcyclovir, Your healthcare provider, may also prescribe drugs to relieve pain. Wet compresses, calamine lotion, and colloidal oatmeal baths may help relieve some of the itching. Patients with long-term pain may also be treated with numbing patches, tricyclic antidepressants, and gabapentin, an anti-seizure medication. While these treatments can reduce the symptoms of shingles, they are not a cure. The antivirals do weaken the virus and its effects, but the outbreak still tends to run its course. Good hygiene, including daily bathing, can help prevent bacterial infections. It is a good idea to keep fingernails clean and well-trimmed to reduce scratching. Shingles Vaccine The shingles vaccine is NOT recommended if you have active shingles or pain that continues after the rash is gone. To learn more about the shingles vaccine, see the chapter on ""Prevention.""",NIHSeniorHealth,Shingles +What is (are) Shingles ?,"Shingles -- also called varicella-zoster -- is a painful skin disease caused by a reactivation of the chickenpox virus. It is distinctive because it affects only one side of the body. The early signs of shingles usually develop in three stages: severe pain or tingling, possibly itchy rash, and blisters that look like chickenpox. (Watch the video to learn more about shingles. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)",NIHSeniorHealth,Shingles +Who is at risk for Shingles? ?,"Shingles is very common. Fifty percent of all Americans will have had shingles by the time they are 80. While shingles occurs in people of all ages, it is most common in 60-to 80-year-olds. In fact, one out of every three people 60 years or older will get shingles.",NIHSeniorHealth,Shingles +What are the symptoms of Shingles ?,"The first symptoms usually include burning, itching, or tingling sensations on the back, chest, or around the rib cage or waist. In other cases, it can be the face or eye area that is involved. The affected area can become extremely painful. This is when most people go to a healthcare provider to find out what is causing the pain. Some people report feeling feverish and weak during the early stages. Usually within 48 to 72 hours, a red, blotchy rash develops on the affected area. The rash erupts into small blisters that look like chickenpox. The blisters tend to be clustered in one specific area, rather than being scattered all over the body like chickenpox. The torso or face are the parts most likely to be affected, but on occasion, shingles breaks out in the lower body. The burning sensation in the rash area is often accompanied by shooting pains. After the blisters erupt, the open sores take a week or two to crust over. The sores are usually gone within another two weeks. The pain may diminish somewhat, but it often continues for months -- and can go on for years.",NIHSeniorHealth,Shingles +How to diagnose Shingles ?,"A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. A healthcare provider usually confirms a diagnosis of shingles if the person also - reports a sharp, burning pain - has had chickenpox - has blisters that look like chickenpox - is elderly. reports a sharp, burning pain has had chickenpox has blisters that look like chickenpox is elderly. Other symptoms of shingles can include - fever - headache - chills - upset stomach. fever headache chills upset stomach. Some people go to their healthcare provider because of burning, painful, itchy sensations on one area of skin, but they don't get a rash. If there is no rash, the symptoms can be difficult to diagnose because they can be mistaken for numerous other diseases. In cases where there is no rash or the diagnosis is questionable, healthcare providers can do a blood test. If there is a rash, but it does not resemble the usual shingles outbreak, a healthcare provider can examine skin scrapings from the sores.",NIHSeniorHealth,Shingles +What are the complications of Shingles ?,"The most common complication of shingles is pain -- a condition called post-herpetic neuralgia (PHN). People with PHN have severe pain in the areas where they had the shingles rash, even after the rash clears up. In most patients, the pain usually clears up in a few weeks or months, but some people can have pain from PHN for years. Shingles may also lead to other serious complications. - Outbreaks that start on the face or eyes can cause vision or hearing problems. Even permanent blindness can result if the cornea of the eye is affected. - Bacterial infection of the open sores can lead to scarring. - In a very small number of cases, bacteria can cause more serious conditions, including toxic shock syndrome and necrotizing fasciitis, a severe infection that destroys the soft tissue under the skin. - The burning waves of pain, loss of sleep, and interference with even basic life activities can cause serious depression. - In patients with immune deficiency, the rash can be much more extensive than usual and the illness can be complicated by pneumonia. These cases are more serious, but they are rarely fatal. - Very rarely, shingles can also lead to pneumonia, brain inflammation (encephalitis), or death. Outbreaks that start on the face or eyes can cause vision or hearing problems. Even permanent blindness can result if the cornea of the eye is affected. Bacterial infection of the open sores can lead to scarring. In a very small number of cases, bacteria can cause more serious conditions, including toxic shock syndrome and necrotizing fasciitis, a severe infection that destroys the soft tissue under the skin. The burning waves of pain, loss of sleep, and interference with even basic life activities can cause serious depression. In patients with immune deficiency, the rash can be much more extensive than usual and the illness can be complicated by pneumonia. These cases are more serious, but they are rarely fatal. Very rarely, shingles can also lead to pneumonia, brain inflammation (encephalitis), or death.",NIHSeniorHealth,Shingles +What causes Shingles ?,"Shingles is caused by a virus called the varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores and other symptoms healed, but the virus remained. It is with you for life. Researchers know that the varicella-zoster virus behaves differently from other viruses, such as the flu virus. Our immune system usually kills off invading germs, but it cannot completely knock out this type of virus. The virus just becomes inactive. The virus can become active again, especially in the later years of your life when your immune system doesn't protect you as well from infections. The virus travels from the spinal nerve cells and follows a nerve path out to the skin. Nerve endings in the skin become inflamed and erupt in a very painful rash. Healthcare providers cannot always be sure what the trigger is in each case. They don't know why the virus reactivates in one person with these risk factors, while in another person with the same risk factors, it does not.",NIHSeniorHealth,Shingles +Who is at risk for Shingles? ?,"The leading risk factor for shingles is a history of having had chickenpox. One out of every five people who have had chickenpox is likely to get shingles. Another risk factor is aging. As we age, our natural immunity gradually loses its ability to protect against infection. The shingles virus can take advantage of this and become active again. Conditions that weaken the immune system can also put people at risk for shingles. Shingles is especially dangerous for anyone who has had cancer, radiation treatments for cancer, HIV/AIDS, or a transplant operation. Our immune system gradually loses strength as we mature. After people reach 50, the body is not able to fight off infections as easily as it once did.",NIHSeniorHealth,Shingles +What is (are) Shingles ?,"""A burning, tingly feeling is what I noticed first,"" said an elderly woman describing her symptoms. ""I looked in the mirror, and there was a rash on just one side of my back. Then the shooting pains started. Days later, I could hardly stand to have my clothes touching me. I thought maybe I had hives or poison ivy,"" she said, ""until I went to the doctor.""",NIHSeniorHealth,Shingles +What are the symptoms of Shingles ?,"A week or two after the blisters erupt, the oozing sores will begin to crust over. The sores are usually gone after another two weeks. The pain usually decreases over the next few weeks, but some patients may have pain for months -- sometimes, for years.",NIHSeniorHealth,Shingles +How to prevent Shingles ?,"Yes. In May 2006, the U.S. Food and Drug Administration approved a vaccine to prevent shingles in people age 60 and older. The vaccine, called Zostavax, is designed to boost the immune system and protect older adults from getting shingles later on. Even if you have had shingles, you can still get the shingles vaccine to help prevent future occurrences of the disease. There is no maximum age for getting the vaccine, and only a single dose is recommended. The shingles vaccine is NOT recommended if you have active shingles or pain that continues after the rash is gone. (Watch the video to learn more about shingles treatments. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) The shingles vaccine is available in pharmacies and doctor's offices. Talk with your healthcare professional if you have questions about the vaccine. To learn more about the vaccine, see ""Zostavax: Questions and Answers.""",NIHSeniorHealth,Shingles +What are the treatments for Shingles ?,"Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash. At the early stage of shingles, a healthcare provider will usually prescribe antiviral pills. These antiviral medicines include acyclovir, valacyclovir, or famcyclovir, Your healthcare provider, may also prescribe drugs to relieve pain. Wet compresses, calamine lotion, and colloidal oatmeal baths may help relieve some of the itching. Patients with long-term pain may also be treated with numbing patches, tricyclic antidepressants, and gabapentin, an anti-seizure medication. The shingles vaccine is not recommended if you have active shingles or pain that continues after the rash is gone. While these treatments can reduce the symptoms of shingles, they are not a cure. The antivirals do weaken the virus and its effects, but the outbreak still tends to run its course. Good hygiene, including daily bathing, can help prevent bacterial infections. It is a good idea to keep fingernails clean and well-trimmed to reduce scratching.",NIHSeniorHealth,Shingles +What is (are) Heart Attack ?,"Blood Flow to the Heart Is Blocked The heart works 24 hours a day, pumping oxygen and nutrient-rich blood to the body. Blood is supplied to the heart through its coronary arteries. If a blood clot suddenly blocks a coronary artery, it cuts off most or all blood supply to the heart, and a heart attack results. If blood flow isn't restored quickly, the section of heart muscle begins to die. The more time that passes without treatment to restore blood flow, the greater the damage to the heart. Affects Both Men and Women Heart attacks are a leading killer of both men and women in the United States. Each year, more than one million people in the U.S. have a heart attack and about half of them die. Half of those who die do so within one hour of the start of symptoms and before reaching the hospital. The good news is that excellent treatments are available for heart attacks. These treatments can save lives and prevent disabilities. Prompt Treatment Is Important Heart attack treatment works best when it's given right after symptoms occur. Prompt treatment of a heart attack can help prevent or limit damage to the heart and prevent sudden death. Call 9-1-1 Right Away A heart attack is an emergency. Call 9-1-1 for an ambulance right away -- within 5 minutes -- if you think you or someone else may be having a heart attack. You also should call for help if your chest pain doesn't go away as it usually does when you take medicine prescribed for angina (chest pain). Do not drive to the hospital or let someone else drive you. Emergency personnel in the ambulance can begin life-saving treatment on the way to the emergency room. They carry drugs and equipment that can help your medical condition, including - oxygen - aspirin to prevent further blood clotting - heart medications, such as nitroglycerin - pain relief treatments - defibrillators that can restart the heart if it stops beating. oxygen aspirin to prevent further blood clotting heart medications, such as nitroglycerin pain relief treatments defibrillators that can restart the heart if it stops beating. If blood flow in the blocked artery can be restored quickly, permanent heart damage may be prevented. Yet, many people do not seek medical care for 2 hours or more after symptoms start.",NIHSeniorHealth,Heart Attack +What are the symptoms of Heart Attack ?,"Symptoms Can Vary Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. The warning signs and symptoms of a heart attack aren't the same for everyone. Many heart attacks start slowly as mild pain or discomfort. Some people don't have symptoms at all. Heart attacks that occur without any symptoms or very mild symptoms are called silent heart attacks. However, some people may have a pattern of symptoms that recur. The more signs and symptoms you have, the more likely it is that you're having a heart attack If you have a second heart attack, your symptoms may not be the same as the first heart attack. Here are common signs and symptoms of a heart attack. Chest Pain or Discomfort The most common symptom of heart attack is chest pain or discomfort. Chest pain or discomfort that doesn't go away or changes from its usual pattern (for example, occurs more often or while you're resting) can be a sign of a heart attack. Most heart attacks involve discomfort in the center of the chest that lasts for more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can be mild or severe. Heart attack pain can sometimes feel like indigestion or heartburn. All chest pain should be checked by a doctor. Other Upper Body Discomfort Discomfort can also occur in other areas of the upper body, including pain or numbness in one or both arms, the back, neck, jaw or stomach. Shortness of Breath Shortness of breath often happens along with, or before chest discomfort. Other Symptoms Other symptoms may include - breaking out in a cold sweat - having nausea and vomiting - feeling light-headed or dizzy - fainting - sleep problems - fatigue - lack of energy. breaking out in a cold sweat having nausea and vomiting feeling light-headed or dizzy fainting sleep problems fatigue lack of energy. Angina or a Heart Attack? Angina is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. Angina occurs in people who have coronary heart disease, usually when they're active. Angina symptoms can be very similar to heart attack symptoms. Angina pain usually lasts for only a few minutes and goes away with rest. If you think you may be having a heart attack, or if your angina pain does not go away as usual when you take your angina medication as directed, call 9-1-1 for help. You can begin to receive life saving treatment in the ambulance on the way to the emergency room.",NIHSeniorHealth,Heart Attack +What causes Heart Attack ?,"Most heart attacks are caused by a blood clot that blocks one of the coronary arteries, the blood vessels that bring blood and oxygen to the heart muscle. When blood cannot reach part of your heart, that area starves for oxygen. If the blockage continues long enough, cells in the affected area die. The Most Common Cause Coronary heart disease (CHD)is the most common underlying cause of a heart attack. CHD, also called coronary artery disease, is the hardening and narrowing of the coronary arteries caused by the buildup of plaque inside the walls of the arteries. When plaque builds up in the arteries, the condition is called atherosclerosis (ath-er-o-skler-O-sis). The buildup of plaque occurs over many years. Over time, an area of plaque can rupture (break open) inside of an artery. This causes a blood clot to form on the plaque's surface. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. If the blockage isn't treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems. Other Causes Heart attack also can occur due to problems with the very small, microscopic blood vessels of the heart. This condition is called microvascular disease. It's believed to be more common in women than in men. A less common cause of heart attacks is a severe spasm or tightening of the coronary artery that cuts off blood flow to the heart. These spasms can occur in persons with or without coronary artery disease. What causes a coronary artery to spasm isn't always clear. A spasm may be related to emotional stress or pain, exposure to extreme cold, cigarette smoking, or by taking certain drugs like cocaine. Risk Factors You Cannot Change Certain factors make it more likely that you will develop coronary artery disease and have a heart attack. These risk factors include some things you cannot change. If you are a man over age 45 or a woman over age 55, you are at greater risk. Having a family history of early heart disease, diagnosed in a father or brother before age 55 or in a mother or sister before age 65, is another risk factor. You are also at risk if you have a personal history of angina or previous heart attack, or if you have had a heart procedure such as percutaneous coronary intervention (PCI) or coronary artery bypass surgery (CABG). Risk Factors You Can Change Importantly, there are many risk factors that you can change. These include - smoking - being overweight or obese - physical inactivity - high blood pressure - high blood cholesterol - high blood sugar due to insulin resistance or diabetes - an unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium). smoking being overweight or obese physical inactivity high blood pressure high blood cholesterol high blood sugar due to insulin resistance or diabetes an unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium). Metabolic Syndrome Some of these risk factorssuch as obesity, high blood pressure, and high blood sugartend to occur together. When they do, it's called metabolic syndrome. In general, a person with metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone without metabolic syndrome.",NIHSeniorHealth,Heart Attack +Who is at risk for Heart Attack? ?,"Lowering your risk factors for coronary heart disease (CHD) can help you prevent a heart attack. Even if you already have CHD or have already had a heart attack, you can still take steps to lower your risk. These steps involve following a heart healthy lifestyle and getting ongoing care for conditions that raise your risk. Heart Healthy Lifestyle Changes You can make these lifestyle changes to lower your risk of having a heart attack. - If you smoke, quit. - Maintain a healthy weight. - Be as physically active as you can. - Follow a heart healthy diet. If you smoke, quit. Maintain a healthy weight. Be as physically active as you can. Follow a heart healthy diet. If you smoke, quit. Smoking can raise your risk of CHD and heart attack. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. Maintain a healthy weight. If you're overweight or obese, work with your doctor to create a reasonable weight-loss plan that involves diet and physical activity. Controlling your weight helps you control risk factors for coronary heart disease (CHD) and heart attack. Be as physically active as you can. Physical activity can improve your fitness level and your health. Talk with your doctor about what types of activity are safe for you. Follow a heart healthy diet. Following a healthy diet is an important part of a heart healthy lifestyle. Eat a healthy diet to prevent or reduce high blood pressure and high blood cholesterol, and to maintain a healthy weight. A healthy diet includes a variety of fruits, vegetables, and whole grains. It also includes lean meats, poultry, fish, beans, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugars. For More Information About Healthy Eating For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institute's (NHLBI's) Aim for a Healthy Weight Web site, Your Guide to a Healthy Heart, and Your Guide to Lowering Your Blood Pressure With DASH. In addition, a variety of heart healthy recipes to help you plan meals is available at Aim for a Healthy Weight. All of these resources provide general information about healthy eating. Treatment for Related Conditions Get treatment for related conditions that make having a heart attack more likely. - If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed if diet and exercise aren't enough. - If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. - If you have diabetes, sometimes called high blood sugar, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed. If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed if diet and exercise aren't enough. If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. If you have diabetes, sometimes called high blood sugar, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed.",NIHSeniorHealth,Heart Attack +How to diagnose Heart Attack ?,"If You Have Symptoms, Call 9-1-1 Diagnosis and treatment of a heart attack can begin when emergency personnel arrive after you call 9-1-1. Do not put off calling 9-1-1 because you are not sure that you are having a heart attack. Call within 5 minutes of the start of symptoms. At the hospital emergency room, doctors will work fast to find out if you are having or have had a heart attack. They will consider your symptoms, medical and family history, and test results. Initial tests will be quickly followed by treatment if you are having a heart attack. Diagnostic Tests - an electrocardiogram - blood tests - nuclear heart scan - cardiac catheterization - and coronary angiography. an electrocardiogram blood tests nuclear heart scan cardiac catheterization and coronary angiography. The electrocardiogram, also known as ECG or EKG, is used to measure the rate and regularity of your heartbeat. Blood tests are also used in diagnosing a heart attack. When cells in the heart die, they release enzymes into the blood. They are called markers or biomarkers. Measuring the amount of these markers in the blood can show how much damage was done to your heart. Doctors often repeat these tests to check for changes. The nuclear heart scan uses radioactive tracers to outline the heart chambers and major blood vessels leading to and from the heart. A nuclear heart scan shows any damage to your heart muscle as well as how well blood flows to and from the heart. In cardiac catheterization, a thin, flexible tube is passed through an artery in your groin or arm to reach the coronary arteries. This test allows your doctor to - determine blood pressure and flow in the heart's chambers - collect blood samples from the heart, and - examine the arteries of the heart by x-ray. determine blood pressure and flow in the heart's chambers collect blood samples from the heart, and examine the arteries of the heart by x-ray. Coronary angiography is usually done with the cardiac catheterization. A dye that can be seen on an x-ray is injected through the catheter into the coronary arteries. It shows where there are blockages and how severe they are.",NIHSeniorHealth,Heart Attack +What are the treatments for Heart Attack ?,"Heart attacks are a leading killer of both men and women in the United States. The good news is that excellent treatments are available for heart attacks. These treatments can save lives and prevent disabilities. Heart attack treatment works best when it's given right after symptoms occur. Act Fast The signs and symptoms of a heart attack can develop suddenly. However, they also can develop slowlysometimes within hours, days, or weeks of a heart attack. Know the warning signs of a heart attack so you can act fast to get treatment for yourself or someone else. The sooner you get emergency help, the less damage your heart will sustain. Call 911 for an ambulance right away if you think you or someone else may be having a heart attack. You also should call for help if your chest pain doesn't go away as it usually does when you take medicine prescribed for angina. Treatment May Start Right Away Treatment for a heart attack may begin in the ambulance or in the emergency department and continue in a special area of the hospital called a coronary care unit. Do not drive to the hospital or let someone else drive you. Call an ambulance so that medical personnel can begin life-saving treatment on the way to the emergency room. Restoring Blood Flow to the Heart The coronary care unit is specially equipped with monitors that continuously monitor your vital signs. These include - an EKG which detects any heart rhythm problems - a blood pressure monitor, and - pulse oximetry, which measures the amount of oxygen in the blood. an EKG which detects any heart rhythm problems a blood pressure monitor, and pulse oximetry, which measures the amount of oxygen in the blood. In the hospital, if you have had or are having a heart attack, doctors will work quickly to restore blood flow to your heart and continuously monitor your vital signs to detect and treat complications. Restoring blood flow to the heart can prevent or limit damage to the heart muscle and help prevent another heart attack. Doctors may use clot-busting drugs called thrombolytics and procedures such as angioplasty. - Clot-busters or thrombolytic drugs are used to dissolve blood clots that are blocking blood flow to the heart. When given soon after a heart attack begins, these drugs can limit or prevent permanent damage to the heart. To be most effective, these drugs must be given within one hour after the start of heart attack symptoms. - Angioplasty procedures are used to open blocked or narrowed coronary arteries. A stent, which is a tiny metal mesh tube, may be placed in the artery to help keep it open. Some stents are coated with medicines that help prevent the artery from becoming blocked again. - Coronary artery bypass surgery uses arteries or veins from other areas in your body to bypass your blocked coronary arteries. Clot-busters or thrombolytic drugs are used to dissolve blood clots that are blocking blood flow to the heart. When given soon after a heart attack begins, these drugs can limit or prevent permanent damage to the heart. To be most effective, these drugs must be given within one hour after the start of heart attack symptoms. Angioplasty procedures are used to open blocked or narrowed coronary arteries. A stent, which is a tiny metal mesh tube, may be placed in the artery to help keep it open. Some stents are coated with medicines that help prevent the artery from becoming blocked again. Coronary artery bypass surgery uses arteries or veins from other areas in your body to bypass your blocked coronary arteries. Drug Treatments Many medications are used to treat heart attacks. They include beta blockers, ACE inhibitors, nitrates, anticoagulants, antiplatelet medications, and medications to relieve pain and anxiety. - Beta blockers slow your heart rate and reduce your heart's need for blood and oxygen. As a result, your heart beats with less force, and your blood pressure falls. Beta blockers are also used to relieve angina and prevent second heart attacks and correct an irregular heartbeat. - Angiotensin-converting enzyme or ACE inhibitors lower your blood pressure and reduce the strain on your heart. They are used in some patients after a heart attack to help prevent further weakening of the heart and increase the chances of survival. - Nitrates, such as nitroglycerin, relax blood vessels and relieve chest pain. Anticoagulants, such as heparin and warfarin, thin the blood and prevent clots from forming in your arteries. - >Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. They are given to people who have had a heart attack, have angina, or have had an angioplasty. - Glycoprotein llb-llla inhibitors are potent antiplatelet medications given intravenously to prevent clots from forming in your arteries. Beta blockers slow your heart rate and reduce your heart's need for blood and oxygen. As a result, your heart beats with less force, and your blood pressure falls. Beta blockers are also used to relieve angina and prevent second heart attacks and correct an irregular heartbeat. Angiotensin-converting enzyme or ACE inhibitors lower your blood pressure and reduce the strain on your heart. They are used in some patients after a heart attack to help prevent further weakening of the heart and increase the chances of survival. Nitrates, such as nitroglycerin, relax blood vessels and relieve chest pain. Anticoagulants, such as heparin and warfarin, thin the blood and prevent clots from forming in your arteries. >Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. They are given to people who have had a heart attack, have angina, or have had an angioplasty. Glycoprotein llb-llla inhibitors are potent antiplatelet medications given intravenously to prevent clots from forming in your arteries. Doctors may also prescribe medications to relieve pain and anxiety, or to treat irregular heart rhythms which often occur during a heart attack. Echocardiogram and Stress Tests While you are still in the hospital or after you go home, your doctor may order other tests, such as an echocardiogram. An echocardiogram uses ultrasound to make an image of the heart which can be seen on a video monitor. It shows how well the heart is filling with blood and pumping it to the rest of the body. Your doctor may also order a stress test to see how well your heart works when it has a heavy workload. You run on a treadmill or pedal a bicycle or receive medicine through a vein in your arm to make your heart work harder. EKG and blood pressure readings are taken before, during, and after the test to see how your heart responds. Often, an echocardiogram or nuclear scan of the heart is performed before and after exercise or intravenous medication. The test is stopped if chest pain or a very sharp rise or fall in blood pressure occurs. Monitoring continues for 10 to 15 minutes after the test or until your heart rate returns to baseline.",NIHSeniorHealth,Heart Attack +What is (are) Heart Attack ?,"A heart attack occurs when the supply of blood and oxygen to an area of the heart muscle is blocked, usually by a blood clot in a coronary artery. If the blockage is not treated within a few hours, the heart muscle will be permanently damaged and replaced by scar tissue.",NIHSeniorHealth,Heart Attack +What causes Heart Attack ?,"Coronary heart disease, or CHD, is the most common underlying cause of a heart attack. Coronary arteries are the blood vessels that bring blood and oxygen to the heart muscle. Most heart attacks are caused by a blood clot that blocks one of the coronary arteries. When blood cannot reach part of your heart, that area starves for oxygen. If the blockage continues long enough, cells in the affected area die.",NIHSeniorHealth,Heart Attack +What are the symptoms of Heart Attack ?,"Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. It can include pain or numbness in one or both arms, the back, neck, jaw, or stomach. Heart attack pain can sometimes feel like indigestion or heartburn. Shortness of breath often happens along with, or before chest discomfort. Other symptoms may include breaking out in a cold sweat, having nausea and vomiting, or feeling light-headed or dizzy. Symptoms vary, and some people have no symptoms. Know the symptoms of a heart attack so you can act fast to get treatment.",NIHSeniorHealth,Heart Attack +What are the symptoms of Heart Attack ?,"No. Most heart attack patients do not have all of the symptoms. The important thing to remember is that if you have any of the symptoms and they grow more intense, and last more than 5 minutes, you should call 9-1-1 immediately.",NIHSeniorHealth,Heart Attack +How many people are affected by Heart Attack ?,"Very common. Each year, more than 1 million people in the U.S. have a heart attack and about half of them die. About one-half of those who die do so within 1 hour of the start of symptoms and before reaching the hospital.",NIHSeniorHealth,Heart Attack +Who is at risk for Heart Attack? ?,"Certain factors increase the risk of developing coronary heart disease and having a heart attack. These risk factors include some things you cannot change. You are at greater risk if you - are a man over age 45 or a woman over age 55. - have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. - have a personal history of angina or previous heart attack. - have had a heart procedure, such as angioplasty or heart bypass. are a man over age 45 or a woman over age 55. have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. have a personal history of angina or previous heart attack. have had a heart procedure, such as angioplasty or heart bypass. Importantly, there are many risk factors for heart attack that you CAN change, including - smoking - being obese or overweight - being physically inactive - having high blood pressure, high blood cholesterol or diabetes. smoking being obese or overweight being physically inactive having high blood pressure, high blood cholesterol or diabetes.",NIHSeniorHealth,Heart Attack +Who is at risk for Heart Attack? ?,"You can lower your risk of having a heart attack, even if you have already had a heart attack or have been told that your chances of having a heart attack are high. To prevent a heart attack, you will need to make lifestyle changes. You may also need to get treatment for conditions that raise your risk. Lifestyle changes you can make to lower your risk for heart attack include the following: - If you smoke, quit. - Maintain a healthy weight. Lose weight gradually if you are overweight or obese. If you smoke, quit. Maintain a healthy weight. Lose weight gradually if you are overweight or obese. - Follow a heart healthy diet -- such as one low in salt, saturated fat and trans fat, and calories -- to prevent or reduce high blood pressure and high blood cholesterol and maintain a healthy weight. - Be as physically active as you can. Follow a heart healthy diet -- such as one low in salt, saturated fat and trans fat, and calories -- to prevent or reduce high blood pressure and high blood cholesterol and maintain a healthy weight. Be as physically active as you can. Get treatment for related conditions that might make having a heart attack more likely. - If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed. - If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. - If you have diabetes, sometimes called high blood sugar, follow your doctor's advice about keeping blood sugar levels under control. Take your medicines as directed. If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed. If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. If you have diabetes, sometimes called high blood sugar, follow your doctor's advice about keeping blood sugar levels under control. Take your medicines as directed.",NIHSeniorHealth,Heart Attack +How to diagnose Heart Attack ?,"Several tests are used to diagnose a heart attack. - An electrocardiogram, also called an EKG, measures the rate and regularity of your heartbeat. - Blood tests identify and measure markers in the blood that can show how much damage was done to your heart. These tests are often repeated at specific time periods to check for changes. - A nuclear heart scan uses radioactive tracers to show damage to heart chambers and major blood vessels. - Cardiac catheterization involves passing a thin flexible tube through an artery in your groin or arm to look at your coronary arteries. It allows your doctor to examine the blood flow in your heart's chambers. - Cardiac angiography is usually performed along with cardiac catheterization, using a dye injected through the cardiac catheter. The dye allows the doctor to see where there may be blockages in the coronary arteries. An electrocardiogram, also called an EKG, measures the rate and regularity of your heartbeat. Blood tests identify and measure markers in the blood that can show how much damage was done to your heart. These tests are often repeated at specific time periods to check for changes. A nuclear heart scan uses radioactive tracers to show damage to heart chambers and major blood vessels. Cardiac catheterization involves passing a thin flexible tube through an artery in your groin or arm to look at your coronary arteries. It allows your doctor to examine the blood flow in your heart's chambers. Cardiac angiography is usually performed along with cardiac catheterization, using a dye injected through the cardiac catheter. The dye allows the doctor to see where there may be blockages in the coronary arteries.",NIHSeniorHealth,Heart Attack +What are the treatments for Heart Attack ?,"If you are having a heart attack, doctors will work quickly to restore blood flow to the heart and continuously monitor vital signs to detect and treat complications. Restoring blood flow to the heart can prevent or limit damage to the heart muscle and help prevent another heart attack. Doctors may use clot-busting drugs called thrombolytics and procedures, such as angioplasty. Long-term treatment after a heart attack may include cardiac rehabilitation, checkups and tests, lifestyle changes, and medications.",NIHSeniorHealth,Heart Attack +What is (are) Heart Attack ?,"Angina is a recurring pain or discomfort in the chest that happens when some part of the heart does not receive enough blood. An episode of angina is not a heart attack. However, people with angina may have a hard time telling the difference between angina and heart attack symptoms. Angina is chest pain or discomfort that occurs when your heart muscle does not get enough blood. Angina may feel like pressure or a squeezing pain in your chest. The pain may also occur in your shoulders, arms, neck, jaw, or back. It may also feel like indigestion. It is usually relieved within a few minutes by resting or by taking prescribed angina medicine.",NIHSeniorHealth,Heart Attack +What are the treatments for Heart Attack ?,"There are many medicines that are used to treat a heart attack. - Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. - Beta blockers decrease the workload on your heart by slowing your heart rate. - Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. - Nitrates, such as nitroglycerin relax blood vessels and relieve chest pain. - Anticoagulants thin the blood and prevent clots from forming in your arteries. - Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. Beta blockers decrease the workload on your heart by slowing your heart rate. Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. Nitrates, such as nitroglycerin relax blood vessels and relieve chest pain. Anticoagulants thin the blood and prevent clots from forming in your arteries. Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Doctors may also prescribe medicines to relieve pain and anxiety, or to treat irregular heart rhythms which often occur during a heart attack.",NIHSeniorHealth,Heart Attack +What is (are) Heart Attack ?,"Having a heart attack increases your chances of having another one. Therefore, it is very important that you and your family know how and when to seek medical attention. Talk to your doctor about making an emergency action plan, and discuss it with your family. The emergency action plan should include - warning signs or symptoms of a heart attack - instructions for accessing emergency medical services in your community, including calling 9-1-1 - steps you can take while waiting for medical help to arrive, such as taking aspirin and nitroglycerin - important information to take along with you to the hospital, such as a list of medications that you take or that you are allergic to, and name and number of whom you should contact if you go to the hospital. warning signs or symptoms of a heart attack instructions for accessing emergency medical services in your community, including calling 9-1-1 steps you can take while waiting for medical help to arrive, such as taking aspirin and nitroglycerin important information to take along with you to the hospital, such as a list of medications that you take or that you are allergic to, and name and number of whom you should contact if you go to the hospital.",NIHSeniorHealth,Heart Attack +What are the treatments for Heart Attack ?,"After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. Spend time with family, friends, and even pets. Affection can make you feel better and less lonely. Most people stop feeling depressed after they have fully recovered.",NIHSeniorHealth,Heart Attack +What is (are) Heart Attack ?,More detailed information on heart attacks is available at www.nhlbi.nih.gov/health/dci.,NIHSeniorHealth,Heart Attack +What is (are) Skin Cancer ?,"Skin cancer is the most common type of cancer in the U.S. It occurs in more than a million people each year, including many older people. There are three main types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. Of the three, melanoma is the most serious. The Body's Largest Organ The skin is the body's largest organ. It has two main layers: the inner layer, called the dermis, and the outer layer, called the epidermis. The dermis contains sweat glands, nerves, hair follicles, and blood vessels. The epidermis forms the protective, waterproof layer of the skin. The very top of the epidermis, which is called the stratum corneum, is made up of dead cells that have moved their way up through the other layers. The epidermis, or outer layer, is made up of three types of living cells: - Squamous cells are flat and form the top layer of living cells. - Basal cells are round and lie directly under squamous cells. - Melanocytes are specialized skin cells that produce pigment called melanin. Squamous cells are flat and form the top layer of living cells. Basal cells are round and lie directly under squamous cells. Melanocytes are specialized skin cells that produce pigment called melanin. The melanin pigment produced by melanocytes gives skin its color. It also protects the skin from ultraviolet (UV) ray damage from the sun by absorbing and scattering the energy. People with more melanin have darker skin and better protection from UV light. People with lighter skin (less melanin) are more vulnerable to damage from UV light. How Tumors Form Normally, cells in the body grow, divide, and produce more cells as needed. But sometimes the process goes wrong -- cells become abnormal and multiply in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be relatively harmless (benign) or cancerous (malignant). A malignant tumor can spread, damage healthy tissue, and make a person ill. Skin cancer occurs when abnormal cells form and multiply in an uncontrolled way in the epidermis, or abnormal cells from the epidermis invade the dermis of the skin. Basal cell carcinoma, squamous cell carcinoma, and melanoma are skin cancers that are named for the epidermal cells from which they develop. Basal Cell and Squamous Cell Carcinoma Basal cell and squamous cell carcinomas are very common in both older and younger people and are rarely life-threatening. Melanoma is a less common, yet more serious, type of skin cancer. Basal cell and squamous cell carcinomas are often called non-melanoma skin cancers or keratinocyte cancers. Melanoma Melanoma results from the uncontrolled growth of melanocytes and can occur anywhere on the body where melanocytes are located, including the skin, eyes, mouth and gastrointestinal tract. Men tend to develop melanoma more often on the trunk (the area from the shoulders to the hips) or the head and neck. Women more often develop melanoma on the extremities (arms and legs). Melanoma is found most often in adults, but can occur in children and teenagers. Melanoma is the most serious and most aggressive (fastest growing) form of skin cancer. An estimated 76,690 new cases of melanoma will be diagnosed in 2013. Because it is difficult to adequately treat melanoma after it has spread, the disease is expected to claim the lives of approximately 9,480 Americans in 2013. Can Skin Cancer Be Treated? Most basal cell and squamous cell skin cancers can be cured if found and treated early. Melanoma can often be treated effectively if caught in time.",NIHSeniorHealth,Skin Cancer +What causes Skin Cancer ?,"Scientists have been able to identify the causes and risk factors for skin cancer. A risk factor is anything that increases your chances of getting a disease. DNA Damage One of the main reasons that skin cancer develops is because DNA is damaged. DNA is the master molecule that controls and directs every cell in the body. Damage to DNA is one of the ways that cells lose control of growth and become cancerous. DNA mutations can also be inherited. Exposure to Ultraviolet Radiation Excess exposure to ultraviolet (UV) light can damage the DNA in skin cells and increase a person's risk for both melanoma and non-melanoma skin cancer. UV light is invisible radiation from the sun that can damage DNA. Skin cells are especially susceptible to DNA damage since they are frequently exposed to UV light. There are three types of UV radiation: A, B, and C. All three are dangerous and able to penetrate skin cells. UVA is the most common on earth, and is harmful to the skin. UVB is less common because some of it is absorbed by the ozone layer. It is less harmful than UVA, but can still cause damage. UVC is the least dangerous because although it can cause the most damage to the skin, almost all of the UVC rays are absorbed by the ozone layer. Sources of Ultraviolet Radiation UV radiation comes from the sun, sunlamps, tanning beds, or tanning booths. UV radiation is present even in cold weather or on a cloudy day. A person's risk of skin cancer is related to lifetime exposure to UV radiation. Most skin cancer appears after age 50, but the sun damages the skin from an early age. The body has systems to repair DNA and control some mutations, but not all of them. The risk of cancer increases as we age because sometimes cancer is caused by many mutations accumulating over time. Role of the Immune System The body's immune system is also responsible for recognizing and killing abnormal cells before they become cancerous. As we get older, our immune systems are less able to fight infection and control cell growth. People whose immune system is weakened by certain other cancers, medications, or by HIV are at an increased risk of developing skin cancer. Basal Cell and Squamous Cell Carcinoma Besides risk factors that increase a person's chance of getting any type of skin cancer, there are risk factors that are specific to basal cell carcinoma and squamous cell carcinoma, the non-melanoma skin cancers. These risk factors include - scars or burns on the skin - chronic skin inflammation or skin ulcers - infection with certain human papilloma viruses - exposure to arsenic at work - radiation therapy - diseases that make the skin sensitive to the sun, such as xeroderma pigmentosum, albinism, and basal cell nevus syndrome - medical conditions or drugs that suppress the immune system - personal history of one or more skin cancers - family history of skin cancer - certain diseases of the skin, including actinic keratosis and Bowen's disease. scars or burns on the skin chronic skin inflammation or skin ulcers infection with certain human papilloma viruses exposure to arsenic at work radiation therapy diseases that make the skin sensitive to the sun, such as xeroderma pigmentosum, albinism, and basal cell nevus syndrome medical conditions or drugs that suppress the immune system personal history of one or more skin cancers family history of skin cancer certain diseases of the skin, including actinic keratosis and Bowen's disease. Someone who has one or more of these risk factors has a greater chance of getting skin cancer than someone who does not have these risk factors. However, having these risk factors does not guarantee a person will get skin cancer. Many genetic and environmental factors play a role in causing cancer. Melanoma Melanoma is less common than non-melanoma skin cancers like basal cell carcinoma and squamous cell carcinoma, but it is more serious. The factors that increase a person's chance of getting melanoma are - severe, blistering sunburns earlier in life - unusual moles (normally benign clusters of melanocytes) - large quantity of ordinary moles (more than 50) - white or light-colored (fair) skin, especially with freckles. - blond or red hair - blue or green eyes - being older than 20 years of age. severe, blistering sunburns earlier in life unusual moles (normally benign clusters of melanocytes) large quantity of ordinary moles (more than 50) white or light-colored (fair) skin, especially with freckles. blond or red hair blue or green eyes being older than 20 years of age. Someone who has one or more of these risk factors has a greater chance of getting melanoma than someone who does not have these risk factors. However, having these risk factors does not guarantee a person will get cancer. Many genetic and environmental factors play a role in causing cancer. Reducing Your Risk While exposure to UV radiation is a major risk factor for cancer, skin cancer can occur anywhere on the skin, not just in sun-exposed areas. The best ways to reduce your risk of skin cancer are to - avoid outdoor activities during midday, when the sun's rays are strongest - wear protective clothing such as a wide-brimmed hat, long-sleeved shirt, and pants. avoid outdoor activities during midday, when the sun's rays are strongest wear protective clothing such as a wide-brimmed hat, long-sleeved shirt, and pants. Darker-colored clothing is more protective against the sun. For example, a white t-shirt, particularly if it gets wet, provides little resistance to UV rays. In addition, wearing sunglasses that wrap around the face or have large frames is a good way to shield the delicate skin around the eyes. Wear Sunscreen and Lipscreen When exposed to sunlight, you should always wear sunscreen and lipscreen. If possible, choose sunscreen and lipscreen labeled ""broad-spectrum"" (to protect against UVA and UVB rays). Your sunscreen should have an SPF, or sun protection rating, of at least 15. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.",NIHSeniorHealth,Skin Cancer +What are the symptoms of Skin Cancer ?,"Early Detection is Important When skin cancer is found early, it is more likely to be treated successfully. Therefore, it is important to know how to recognize the signs of skin cancer in order to improve the chances of early diagnosis. Most non-melanoma skin cancers (basal cell carcinoma and squamous cell carcinoma) can be cured if found and treated early. Skin Changes A change on the skin is the most common sign of skin cancer. This may be a new growth, a sore that doesn't heal, or a change in an old growth. Not all skin cancers look the same. Sometimes skin cancer is painful, but usually it is not. Checking your skin for new growths or other changes is a good idea. Keep in mind that changes are not a sure sign of skin cancer. Still, you should report any changes to your health care provider right away. You may need to see a dermatologist, a doctor who has special training in the diagnosis and treatment of skin problems. A Mole That is Bleeding Also see a doctor if a mole is bleeding or if more moles appear around the first one. Most of the time, these signs are not cancer. Sometimes, it is not even a mole. Still, it is important to check with a doctor so that any problems can be diagnosed and treated as early as possible. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Signs of Melanoma Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months.",NIHSeniorHealth,Skin Cancer +How to diagnose Skin Cancer ?,"What Happens During Screening? Checking for cancer in a person who does not have any symptoms is called screening. Screening can help diagnose skin problems before they have a chance to become cancerous. A doctor, usually a dermatologist, screens for skin cancer by performing a total-body skin examination. During a skin exam, the dermatologist or other health care professional looks for changes in the skin that could be skin cancer, and checks moles, birth marks, or pigmentation for the ABCD signs of melanoma. He or she is looking for abnormal size, color, shape, or texture of moles, and irregular patches of skin. Screening examinations are very likely to detect large numbers of benign skin conditions, which are very common in older people. Even experienced doctors have difficulty distinguishing between benign skin irregularities and early carcinomas or melanomas. To reduce the possibility of misdiagnosis, you might want to get a second opinion from another health professional. Self-Examinations You can also perform self-examinations to check for early signs of melanoma. Make sure to have someone else check your back and other hard to see areas. Do not attempt to shave off or cauterize (destroy with heat) any suspicious areas of skin. Risk Tool The National Cancer Institute developed a Melanoma Risk Tool which can help patients and their doctors determine their risk. The tool can be found at http://www.cancer.gov/melanomarisktool/. Performing a Biopsy In order to diagnose whether or not there is skin cancer, a mole or small piece of abnormal skin is usually removed. Then, a doctor will study the suspicious cells under a microscope or perform other tests on the skin sample. This procedure is called a biopsy. It is the only sure way to diagnose skin cancer. You may have the biopsy in a doctor's office or as an outpatient in a clinic or hospital. Where it is done depends on the size and place of the abnormal area on your skin. You may have local anesthesia, which means that you can be awake for the procedure. If Cancer Is Found If the biopsy shows you have cancer, tests might be done to find out if cancer cells have spread within the skin or to other parts of the body. Often the cancer cells spread to nearby tissues and then to the lymph nodes. Has the Cancer Spread? Lymph nodes are an important part of the body's immune system. Lymph nodes are masses of lymphatic tissue surrounded by connective tissue. Lymph nodes play a role in immune defense by filtering lymphatic fluid and storing white blood cells. Often in the case of melanomas, a surgeon performs a lymph node test by injecting either a radioactive substance or a blue dye (or both) near the skin tumor. Next, the surgeon uses a scanner to find the lymph nodes containing the radioactive substance or stained with the dye. The surgeon might then remove the nodes to check for the presence of cancer cells. If the doctor suspects that the tumor may have spread, the doctor might also use computed axial tomography (CAT scan or CT scan), or magnetic resonance imaging (MRI) to try to locate tumors in other parts of the body.",NIHSeniorHealth,Skin Cancer +What are the treatments for Skin Cancer ?,"Many Treatment Options There are many treatment options for people with melanoma and non-melanoma skin cancer. The choice of treatment depends on your age and general health, the site of the cancer, the stage of the cancer, whether or not it has spread beyond the original site, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better chances for successful outcomes. In some cases, all of the cancer is removed during the biopsy, and no further treatment is needed. For others, more treatment will be needed, and a doctor can explain all of the treatment options. Working With a Team of Specialists A person with skin cancer, particularly if it is melanoma, is often treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist (a specialist in cancer treatment), a dermatologist (a specialist in skin problems), a surgeon, a radiation oncologist (a specialist in radiation therapy), and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Plan Ahead for Doctor Visits When planning your skin cancer treatment, you may meet with many different health care providers, get lots of information, and have lots of questions. Plan ahead for doctor appointments by writing down your questions and bringing a paper and pen to take notes. Sometimes it also helps to bring a friend or family member to your doctor appointments so they can help you listen, take notes, ask questions, and give you support. Clinical Trials for Skin Cancer Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe, effective, and better than the current standard of care. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. - Click here to see a list of the current clinical trials on melanoma. - Click here to see a list of the current clinical trials on non-melanoma skin cancer. Click here to see a list of the current clinical trials on melanoma. Click here to see a list of the current clinical trials on non-melanoma skin cancer. A separate window will open. Click the ""x"" in the upper right hand corner of the ""Clinical Trials"" window to return here.",NIHSeniorHealth,Skin Cancer +what research (or clinical trials) is being done for Skin Cancer ?,"Many Areas of Research Scientists are constantly searching for new ways to detect skin cancer, assess risk, and predict patient outcomes. They are interested in finding new treatments and new ways to deliver drugs and radiation. As scientists get a better understanding of what causes skin cancer and what genetic and environmental factors play a role, they should be able to design new drugs to hinder the development of cancer. Clinical trials are designed to answer important questions and to find out whether new approaches are safe and effective. Research has already led to advances, such as photodynamic therapy, and researchers continue to search for better ways to prevent and treat skin cancer. Researching Techniques to Deliver Drugs One area that scientists are working on is development of techniques for delivering chemotherapy drugs directly to the area around the tumor, rather than sending the chemotherapy through the entire body. One of these techniques is called hyperthermic isolated limb perfusion. Hyperthermic isolated limb perfusion sends a warm solution containing anti-cancer drugs directly to the arm or leg in which the cancer is located. A tourniquet is used to temporarily cut off the blood flow while the chemotherapy drugs are injected directly into the limb. This allows the patient to receive a high dose of drugs only in the area where the cancer occurred. Genetic Research For basal cell carcinoma and squamous cell carcinoma, researchers are studying gene changes that may be risk factors for the disease. They also are comparing combinations of biological therapy and surgery to treat basal cell cancer. Discovering links between inherited genes, environmental factors, and skin cancer is another area of research that might provide scientists with insight they can use to screen people to determine their risk for the disease. Recently, scientists at the National Cancer Institute (NCI) found one genetic link that dramatically increases the chance of developing melanoma. Research on Melanoma Treatments Other studies are currently exploring new treatment options for melanoma. One recent study discovered a protein that may help block the development and spread of melanoma. This discovery could lead to a new treatment for melanoma patients in the future. Several other studies are examining the potential for using vaccines to treat melanoma. An Advance in Treating Melanoma In June of 2011, an important advance in treating melanoma was announced at an annual cancer meeting. A drug called ipilimumab was approved for treating the disease, and it works differently than traditional chemotherapy. It uses immunotherapy to help the immune system recognize and reject cancer cells. When its successful, immunotherapy can lead to complete reversal of even advanced disease. Some patients with stage IV metastatic disease who were treated in early immunotherapy trials after other therapies were unsuccessful are still in complete remission more than 20 years later. Vaccine Research Traditional vaccines are designed to prevent diseases in healthy people by teaching the body to recognize and attack a virus or bacteria it may encounter in the future. Cancer vaccines, however, are given to people who already have cancer. These vaccines stimulate the immune system to fight against cancer by stopping its growth, shrinking a tumor, or killing the cancer cells that were not killed by other forms of treatment. Developing a vaccine against a tumor such as melanoma is more complicated than developing a vaccine to fight a virus. Clinical trials are in progress at the National Cancer Institute and other institutions to test the effectiveness of treating stage III or stage IV melanoma patients with vaccines.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"Skin cancer occurs when cancer cells form in the tissues of the skin. The skin is mainly made up of two layers: the inner layer, called the dermis, and the outer layer, called the epidermis. Within the epidermis, there are three types of cells; squamous cells, basal cells, and melanocytes. There are three types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. The types of cancer are named after the type of cells that are affected. Basal cell carcinoma and squamous cell carcinoma are very common, especially in older people. However, they are rarely life-threatening. Melanoma is a less common, yet more serious, type of cancer.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"Basal cell carcinoma develops in the basal cells of the epidermis, the outer layer of the skin. It is the most common type of skin cancer in the United States, but it spreads slowly and is rarely life-threatening. Basal cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. However, it can be found on any part of the body.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"Squamous cell carcinoma develops in the squamous cells of the epidermis, the outer layer of the skin. It is much less common than basal cell carcinoma and is rarely life-threatening. Squamous cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. However, it can be found on any part of the body.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,Melanoma is the fastest growing and most invasive type of skin cancer. This cancer arises from overgrowth of melanocytes. Melanocytes are specialized skin cells that produce a pigment called melanin.,NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"When the cancer spreads from its original tumor location in the skin to another part of the body such as the brain, it is called metastatic skin cancer. It is not the same as a cancer that started in the brain (brain cancer). Doctors sometimes call this ""distant"" disease.",NIHSeniorHealth,Skin Cancer +Who is at risk for Skin Cancer? ?,"Skin cancer is caused by DNA damage, which can result from excess exposure to ultraviolet (UV) light. Having a previous occurrence of skin cancer or a close family member with the disease also puts you at risk for skin cancer. Other risk factors include having - a weak immune system - unusual moles or a large number of moles - white or light (fair)-colored skin, especially with freckles - blond or red hair or blue or green eyes - scars or burns on the skin, or skin diseases that make someone sensitive to the sun. a weak immune system unusual moles or a large number of moles white or light (fair)-colored skin, especially with freckles blond or red hair or blue or green eyes scars or burns on the skin, or skin diseases that make someone sensitive to the sun. In 2008 the National Cancer Institute developed a Melanoma Risk Tool which can help patients and their doctors determine their risk. The tool can be found at http://www.cancer.gov/melanomarisktool/.",NIHSeniorHealth,Skin Cancer +Who is at risk for Skin Cancer? ?,"The best way to reduce your skin cancer risk is to reduce your exposure to ultraviolet (UV) rays from the sun. To do this, you can avoid outdoor activities during midday, when the sun's rays are strongest, or wear protective clothing, such as a wide-brimmed hat, long-sleeved shirt, and pants. (Watch the video to learn more about how to protect your skin. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Darker-colored clothing is more protective against the sun. A white t-shirt, for example, provides little resistance to ultraviolet (UV) rays, particularly if it gets wet. In addition, wearing sunglasses that wrap around the face or have large frames is a good way to shield the delicate skin around the eyes. When going outside, you should always wear sunscreen and lipscreen. Your sunscreen should have an SPF of at least 15. UV radiation can also come from sunlamps, tanning beds, or tanning booths. UV radiation is present even in cold weather or on a cloudy day. A person's risk of cancer is related to lifetime exposure to UV radiation.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.",NIHSeniorHealth,Skin Cancer +What are the symptoms of Skin Cancer ?,"Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. ABCDE stands for Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months. Other symptoms of skin cancer include a bleeding mole or the appearance of more moles around the first one.",NIHSeniorHealth,Skin Cancer +What is (are) Skin Cancer ?,"Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is - if the cancer has spread from the original tumor site - if cancer is present in nearby lymph nodes - if cancer is present in other parts of the body. the size of the tumor and exactly where it is if the cancer has spread from the original tumor site if cancer is present in nearby lymph nodes if cancer is present in other parts of the body. The choice of treatment is based on many factors, including the size of the tumor, its location in the layers of the skin, and whether it has spread to other parts of the body. For stage 0, I, II or III cancers, the main goals are to treat the cancer and reduce the risk of it returning. For stage IV cancer, the goal is to improve symptoms and prolong survival.",NIHSeniorHealth,Skin Cancer +What are the treatments for Skin Cancer ?,"Different types of treatment are available for patients with skin cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Four types of standard treatment are used: surgery, radiation therapy, chemotherapy, photodynamic therapy, and immunotherapy. Another therapy, biologic therapy, is one of many therapies currently being tested in clinical trials. These standard cancer treatments work in different ways. - Surgery removes the cancer. - Chemotherapy uses anti-cancer drugs to kill cancer cells or stop their growth. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. - Photodynamic therapy uses a drug and a type of laser light to kill cancer cells. - Immunotherapy, which is newer, uses the patient's own immune system to fight the cancer. Surgery removes the cancer. Chemotherapy uses anti-cancer drugs to kill cancer cells or stop their growth. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. Photodynamic therapy uses a drug and a type of laser light to kill cancer cells. Immunotherapy, which is newer, uses the patient's own immune system to fight the cancer. In June of 2011, an important advance in treating melanoma was announced at an annual cancer meeting. A drug called ipilimumab was approved for treating the disease, and it works differently than traditional chemotherapy. It uses immunotherapy to help the immune system recognize and reject cancer cells. When its successful, immunotherapy can lead to complete reversal of even advanced disease. Some patients with stage IV metastatic disease who were treated in early immunotherapy trials after other therapies were unsuccessful are still in complete remission more than 20 years later.",NIHSeniorHealth,Skin Cancer +What are the treatments for Skin Cancer ?,"Yes. Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Clinical trials are research studies with people to find out whether a new drug, therapy, or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. - Click here to see a list of the current clinical trials on melanoma. - Click here to see a list of the current clinical trials on non-melanoma skin cancer. Click here to see a list of the current clinical trials on melanoma. Click here to see a list of the current clinical trials on non-melanoma skin cancer. A separate window will open. Click the ""x"" in the upper right hand corner of the ""Clinical Trials"" window to return here.",NIHSeniorHealth,Skin Cancer +what research (or clinical trials) is being done for Skin Cancer ?,"The National Cancer Institute has developed a comprehensive online cancer database called the Physician Data Query (PDQ) to present evidence from the most recent research on melanoma and other skin cancers. Click here to see the PDQ. A window will open. Click the ""x"" in the upper right hand corner of the ""PDQ"" window to return here.",NIHSeniorHealth,Skin Cancer +How to diagnose Surviving Cancer ?,"Older adults are more likely to have chronic health conditions such as diabetes and heart disease. Managing these conditions can complicate treatment and affect the time it takes to recover. Also, older people's bodies metabolize, or break down, drugs at a slower rate than younger people, and this can have an effect on the way medicines are tolerated. For instance, some older adults may not be able to tolerate high doses of chemotherapy (cancer-fighting drugs) and radiation that are used to treat cancer.",NIHSeniorHealth,Surviving Cancer +What is (are) Surviving Cancer ?,"Follow-up cancer care involves regular medical checkups that include a review of your medical history and a physical exam. Follow-up care may include blood work and other lab tests and procedures that allow the doctor to examine or take pictures of areas inside the body. See more resources and information about follow-up care after treatment, including guidelines.",NIHSeniorHealth,Surviving Cancer +What is (are) Surviving Cancer ?,"It is important to keep a copy of your medical records to share with any new doctors that you see. This information should contain the type of cancer you were diagnosed with, test results, and treatment details. It is also essential to include information about any medical conditions, medications and supplements you take, and the doctors that you are seeing.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. Researchers are still learning about the multiple reasons for fatigue after treatment.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"Most people first notice symptoms, such as tingling or numbness, in their hands or feet. Other common symptoms include sudden or sharp pain sensations, loss of sensation of touch, loss of balance or difficulty walking, trouble picking up objects or buttoning clothes, and being more -- or less -- sensitive to heat and cold.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"Talk to your doctor when you first notice symptoms of neuropathy. Certain medications and other approaches, such as physical therapy, may help alleviate symptoms. There are some steps you can take yourself. Pay careful attention to your hands and feet, and check them for wounds. Pay attention when you walk and avoid falls. Avoid extreme heat or cold.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"You can try several things that might help prevent or relieve lymphedema. - Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. - Avoid getting cuts, insect bites, or sunburn in the affected area. - Keep your skin clean and use lotion to keep it moist. - Wear loose-fitting clothing on your arms or legs. Watch for signs of swelling or infection (redness, pain, heat, and fever). Tell your health care provider if your arm or leg is painful or swollen. Avoid getting cuts, insect bites, or sunburn in the affected area. Keep your skin clean and use lotion to keep it moist. Wear loose-fitting clothing on your arms or legs.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"Many cancer survivors develop problems with their mouth or teeth. Radiation or surgery to the head and neck can cause problems with your teeth and gums, the lining of your mouth, and the glands that make saliva. Certain types of chemotherapy can cause the same problems as well as dry mouth, cavities, and a change in the sense of taste.",NIHSeniorHealth,Surviving Cancer +What are the treatments for Surviving Cancer ?,"Certain kinds of chemotherapy and medicines contribute to weight gain. Unfortunately, the usual ways people try to lose weight may not work. Ask your doctor about talking with a nutritionist who can help you plan a healthy diet, and about doing exercises that can help you regain muscle tone.",NIHSeniorHealth,Surviving Cancer +What is (are) Surviving Cancer ?,"Bladder and bowel problems are among the most upsetting issues people face after cancer treatment. People often feel ashamed or fearful to go out in public, because they worry about having an ""accident."" This loss of control can happen after treatment for bladder, prostate, colon, rectal, ovarian, or other gynecologic or abdominal cancers. Some surgeries to treat cancer may leave a patient with little or no bladder or bowel control. The opposite problem can happen with some medicines that cause constipation. For some people the problems improve over time, but others may experience long-term issues. It is very important to tell your doctor about any changes in your bladder or bowel habits. Several things may help, such as medications, changes in diet or fluid intake, and exercises. Joining a support group also may be helpful, especially for survivors who have an ostomy (an opening in the body to pass waste material).",NIHSeniorHealth,Surviving Cancer +What is (are) Surviving Cancer ?,"For many older adults, intimacy remains an important need. Cancer and cancer treatment can have a major impact on intimacy and sexual functions for both men and women. Problems are often caused by physical changes, such as erectile dysfunction or incontinence which can occur after prostate surgery. Other problems are caused by emotional issues like changes in body image because of scarring or the loss of a breast. Loss of interest in or desire for intimacy can occur and be particularly troublesome. Often, sexual problems will not get better on their own, so it is important to talk with your doctor. He or she can suggest a treatment depending on the type of problem and its cause. A variety of interventions, such as medications, devices, surgery, exercises to strengthen genital muscles, or counseling can help. Learn more about treating problems with intimacy after cancer.",NIHSeniorHealth,Surviving Cancer +What are the symptoms of Surviving Cancer ?,"Some signs that may indicate you need professional help for depression include - feelings of worry, sadness, and hopelessness that don't go away - feeling overwhelmed or out of control for long periods of time - crying for a long time or many times a day - thinking about hurting or killing yourself - loss of interest in usual activities. feelings of worry, sadness, and hopelessness that don't go away feeling overwhelmed or out of control for long periods of time crying for a long time or many times a day thinking about hurting or killing yourself loss of interest in usual activities.",NIHSeniorHealth,Surviving Cancer +What is (are) Surviving Cancer ?,"The National Cancer Institute's Cancer Information Service (CIS) provides personalized answers to questions about many aspects of cancer, including symptoms, diagnosis, treatment, and survivorship issues. Contact CIS by calling 1-800-4-CANCER (1-800-422-6237) or for TTY users, 1-800-332-8615. You can also contact CIS over the Internet at http://cis.nci.nih.gov or by sending an email to cancergovstaff@mail.nih.gov.",NIHSeniorHealth,Surviving Cancer +What is (are) Gout ?,"Sudden, Intense Joint Pain Gout is a form of arthritis that causes the sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Early attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Where Gout Usually Occurs Sometime during the course of the disease, many patients will develop gout in the big toe. Gout frequently affects joints in the lower part of the body such as the ankles, heels, knees, or toes. Who is at Risk? Adult men, particularly those between the ages of 40 and 50, are more likely to develop gout than women, who rarely develop the disease before menstruation ends. A Buildup of Uric Acid Before an attack, needle-like crystals of uric acid build up in connective tissue, in the joint space between two bones, or in both. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods. Normally, uric acid is dissolved in the blood and passed through the kidneys into the urine, where it is eliminated. If there is an increase in the production of uric acid or if the kidneys do not eliminate enough uric acid from the body, levels of it build up in the blood (a condition called hyperuricemia). Hyperuricemia also may result when a person eats too many high-purine foods, such as liver, dried beans and peas, anchovies, and gravies. Hyperuricemia is not a disease, and by itself it is not dangerous. However, if too many uric acid crystals form as a result of hyperuricemia, gout can develop. The crystals form and build up in the joint, causing inflammation. Stages of Gout Gout can progress through four stages. Asymptomatic (without symptoms) hyperuricemia. In this stage, a person has elevated levels of uric acid in the blood (hyperuricemia), but no other symptoms. Treatment is usually not required. Acute gout, or acute gouty arthritis. In this stage, hyperuricemia has caused uric acid crystals to build up in joint spaces. This leads to a sudden onset of intense pain and swelling in the joints, which also may be warm and very tender. An acute (sudden) attack commonly occurs at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Over time, however, attacks can last longer and occur more frequently. Interval or intercritical gout. This is the period between acute attacks. In this stage, a person does not have any symptoms. Chronic tophaceous (toe FAY shus) gout. This is the most disabling stage of gout. It usually develops over a long period, such as 10 years. In this stage, the disease may have caused permanent damage to the affected joints and sometimes to the kidneys. With proper treatment, most people with gout do not progress to this advanced stage.",NIHSeniorHealth,Gout +What causes Gout ?,"A Buildup of Uric Acid Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines which are a part of all human tissue and found in many foods. Needle-like crystals of uric acid can build up in the connective tissue, in the joint space between two bones, or both. If too many uric acid crystals form as a result of hyperuricemia, gout can develop. Risk Factors These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. - Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. - Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. - Lead exposure. In some cases, exposure to lead in the environment can cause gout. Lead exposure. In some cases, exposure to lead in the environment can cause gout. - Other health problems. Renal insufficiency, or the inability of the kidneys to eliminate waste products, is a common cause of gout in older people. Other medical problems that contribute to high blood levels of uric acid include - high blood pressure - hypothyroidism (underactive thyroid gland) - conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers - Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. Other health problems. Renal insufficiency, or the inability of the kidneys to eliminate waste products, is a common cause of gout in older people. Other medical problems that contribute to high blood levels of uric acid include - high blood pressure - hypothyroidism (underactive thyroid gland) - conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers - Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. - high blood pressure - hypothyroidism (underactive thyroid gland) - conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers - Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. high blood pressure hypothyroidism (underactive thyroid gland) conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. - Medications. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine - salicylate-containing drugs, such as aspirin - niacin, a vitamin also known as nicotinic acid - cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. - levodopa, a medicine used in the treatment of Parkinsons disease. Medications. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine - salicylate-containing drugs, such as aspirin - niacin, a vitamin also known as nicotinic acid - cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. - levodopa, a medicine used in the treatment of Parkinsons disease. - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine - salicylate-containing drugs, such as aspirin - niacin, a vitamin also known as nicotinic acid - cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. - levodopa, a medicine used in the treatment of Parkinsons disease. diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine salicylate-containing drugs, such as aspirin niacin, a vitamin also known as nicotinic acid cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. levodopa, a medicine used in the treatment of Parkinsons disease.",NIHSeniorHealth,Gout +What are the symptoms of Gout ?,"Attacks Usually Start at Night Gout is a form of arthritis that causes sudden onset of intense pain and swelling in the joints, which also may be warm and red. Gout typically attacks one joint at a time, and the attacks usually begin at night. Where Gout Usually Occurs Gout normally attacks joints in the lower part of the body, such as the knee, ankle or big toe. For many people, the joints in the big toe are the first to be attacked. In fact, sometime during the course of the disease, many people will develop gout in the big toe. Other Signs and Symptoms These can include - hyperuricemia -- high levels of uric acid in the body hyperuricemia -- high levels of uric acid in the body - the presence of uric acid crystals in joint fluid the presence of uric acid crystals in joint fluid - more than one attack of acute arthritis more than one attack of acute arthritis - arthritis that develops in a day, producing a swollen, red, and warm joint arthritis that develops in a day, producing a swollen, red, and warm joint - an attack of arthritis in only one joint, often the toe, ankle, or knee. an attack of arthritis in only one joint, often the toe, ankle, or knee. Diagnosis May Be Difficult Gout may be difficult for doctors to diagnose because the symptoms can be vague, and gout often mimics other conditions. Although most people with gout have hyperuricemia at some time during the course of their disease, it may not be present during an acute attack. In addition, having hyperuricemia alone does not mean that a person will get gout. In fact, most people with hyperuricemia do not develop the disease. Testing for Gout To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for monosodium urate crystals under a microscope. If crystals are found in the joint fluid, the person usually has gout.",NIHSeniorHealth,Gout +What are the treatments for Gout ?,"Symptoms Can Be Controlled With proper treatment, most people with gout are able to control their symptoms and live productive lives. The goals for treatment are to ease the pain that comes from sudden attacks, prevent future attacks, stop uric acid buildup in the tissues and joint space between two bones, and prevent kidney stones from forming. Common Treatments The most common treatments for an attack of gout are high doses of non-steroidal anti-inflammatory drugs (NSAIDs) which are taken by mouth, or corticosteroids, which are taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment. The attack usually goes away completely within a week or so. Several NSAIDs are available over the counter. It is important to check with your doctor concerning the safety of using these drugs and to verify the proper dosage. When NSAIDs or corticosteroids fail to control pain and swelling, the doctor may use another drug, colchicine. This drug is most effective when taken within the first 12 hours of an acute attack. For patients who have repeated gout attacks, the doctor may prescribe medicine such as allupurinol, febuxostat, or probenecid to lower uric acid levels. In severe cases of gout that do not respond to other treatments, pegloticase, a medicine administered by intravenous infusion, may be prescribed to reduce levels of uric acid.",NIHSeniorHealth,Gout +what research (or clinical trials) is being done for Gout ?,"Because uric acids role in gout is well understood and medications to ease attacks and reduce the risk or severity of future attacks are widely available, gout is one of the mostif not the mostcontrollable forms of arthritis. But researchers continue to make advances that help people live with gout. Perhaps someday these advances will prevent this extremely painful disease. Here are some areas of gout research. - Refining current treatments. Although many medications are available to treat gout, doctors are trying to determine which of the treatments are most effective and at which dosages. Recent studies have compared the effectiveness of different NSAIDs in treating the pain and inflammation of gout and have looked at the optimal dosages of other treatments to control and/or prevent painful attacks. Refining current treatments. Although many medications are available to treat gout, doctors are trying to determine which of the treatments are most effective and at which dosages. Recent studies have compared the effectiveness of different NSAIDs in treating the pain and inflammation of gout and have looked at the optimal dosages of other treatments to control and/or prevent painful attacks. - Evaluating new therapies. A number of new therapies have shown promise in recent studies including biologic agents that block a chemical called tumor necrosis factor. This chemical is believed to play a role in the inflammation of gout. Evaluating new therapies. A number of new therapies have shown promise in recent studies including biologic agents that block a chemical called tumor necrosis factor. This chemical is believed to play a role in the inflammation of gout. - Discovering the role of foods. Gout is the one form of arthritis for which there is proof that specific foods worsen the symptoms. Now, research is suggesting that certain foods may also prevent gout. In one study scientists found that a high intake of low-fat dairy products reduces the risk of gout in men by half. The reason for this protective effect is not yet known. Another study examining the effects of vitamin C on uric acid suggests that it may be beneficial in the prevention and management of gout and other diseases that are associated with uric acid production. Discovering the role of foods. Gout is the one form of arthritis for which there is proof that specific foods worsen the symptoms. Now, research is suggesting that certain foods may also prevent gout. In one study scientists found that a high intake of low-fat dairy products reduces the risk of gout in men by half. The reason for this protective effect is not yet known. Another study examining the effects of vitamin C on uric acid suggests that it may be beneficial in the prevention and management of gout and other diseases that are associated with uric acid production. - Searching for new treatment approaches. Scientists are also studying the contributions of different types of cells that participate in both the acute and chronic joint manifestations of gout. The specific goals of this research are to better understand how urate crystals activate white blood cells called neutrophils, leading to acute gout attacks; how urate crystals affect the immune system, leading to chronic gout; and how urate crystals interact with bone cells in a way that causes debilitating bone lesions among people with chronic gout. The hope is that a better understanding of the various inflammatory reactions that occur in gout will provide innovative clues for treatment. Searching for new treatment approaches. Scientists are also studying the contributions of different types of cells that participate in both the acute and chronic joint manifestations of gout. The specific goals of this research are to better understand how urate crystals activate white blood cells called neutrophils, leading to acute gout attacks; how urate crystals affect the immune system, leading to chronic gout; and how urate crystals interact with bone cells in a way that causes debilitating bone lesions among people with chronic gout. The hope is that a better understanding of the various inflammatory reactions that occur in gout will provide innovative clues for treatment. - Examining how genetics and environmental factors can affect hyperuricemia. Researchers are studying different populations in which gout is prevalent to determine how certain genes and environmental factors may affect blood levels of uric acid, which can leak out and crystallize in the joint, leading to gout. Examining how genetics and environmental factors can affect hyperuricemia. Researchers are studying different populations in which gout is prevalent to determine how certain genes and environmental factors may affect blood levels of uric acid, which can leak out and crystallize in the joint, leading to gout.",NIHSeniorHealth,Gout +What is (are) Gout ?,"Gout is a form of arthritis that causes sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Sometime during the course of the disease, many people will develop gout in the big toe. Gout frequently affects joints in the lower part of the body such as the knees, ankles, or toes.",NIHSeniorHealth,Gout +What causes Gout ?,"Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods, especially those high in protein. Needle-like crystals of uric acid can build up in the connective tissue, in the joint space between two bones, or both. If too many uric acid crystals form as a result of hyperuricemia, gout can develop.",NIHSeniorHealth,Gout +Who is at risk for Gout? ?,"These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) - Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. - Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. - Lead exposure. In some cases, exposure to lead in the environment can cause gout. Genetics. Many people with gout have a family history of the disease. Gender and age. Gout is more common in men than in women and more common in adults than in children. Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. Lead exposure. In some cases, exposure to lead in the environment can cause gout.",NIHSeniorHealth,Gout +Who is at risk for Gout? ?,"Renal insufficiency, or the inability of the kidneys to eliminate waste products, is a common cause of gout in older people. Here are other medical problems that contribute to high blood levels of uric acid and can put people at risk for gout. - high blood pressure - hypothyroidism (underactive thyroid gland) - conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers - Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. high blood pressure hypothyroidism (underactive thyroid gland) conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities.",NIHSeniorHealth,Gout +Who is at risk for Gout? ?,"Yes. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. (High levels of uric acid in the blood can lead to gout.) - salicylate-containing drugs, such as aspirin - niacin, a vitamin also known as nicotinic acid - cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. - levodopa, a medicine used in the treatment of Parkinsons disease. diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. (High levels of uric acid in the blood can lead to gout.) salicylate-containing drugs, such as aspirin niacin, a vitamin also known as nicotinic acid cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. levodopa, a medicine used in the treatment of Parkinsons disease.",NIHSeniorHealth,Gout +What are the symptoms of Gout ?,"Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. Other signs and symptoms of gout include - hyperuricemia -- high levels of uric acid in the body - the presence of uric acid crystals in joint fluid - more than one attack of acute arthritis - arthritis that develops in a day, producing a swollen, red, and warm joint - attack of arthritis in only one joint, often the toe, ankle, or knee. hyperuricemia -- high levels of uric acid in the body the presence of uric acid crystals in joint fluid more than one attack of acute arthritis arthritis that develops in a day, producing a swollen, red, and warm joint attack of arthritis in only one joint, often the toe, ankle, or knee.",NIHSeniorHealth,Gout +How to diagnose Gout ?,"To confirm a diagnosis of gout, the doctor inserts a needle into the inflamed joint and draws a sample of synovial fluid, the substance that lubricates a joint. A laboratory technician places some of the fluid on a slide and looks for uric acid crystals under a microscope. If uric acid crystals are found in the fluid surrounding the joint, the person usually has gout.",NIHSeniorHealth,Gout +What are the treatments for Gout ?,"Physicians often prescribe high doses of non-steroidal anti-inflammatory drugs (NSAIDs) or steroids for a sudden attack of gout. NSAIDs are taken by mouth and corticosteroids are either taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment, and the attack usually goes away completely within a week or so. When NSAIDs or corticosteroids fail to control pain and swelling, the doctor may use another drug, colchicine. This drug is most effective when taken within the first 12 hours of an acute attack. For patients who have repeated gout attacks, the doctor may prescribe medicine such as allupurinol, febuxostat, or probenecid to lower uric acid levels. In severe cases of gout that do not respond to other treatments, pegloticase, a medicine administered by intravenous infusion, may be prescribed to reduce levels of uric acid.",NIHSeniorHealth,Gout +What is (are) Gout ?,"The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at NIH has more information about gout. Check out the information here. Also, see ""Key Words"" related to gout.",NIHSeniorHealth,Gout +How to diagnose Alzheimer's Caregiving ?,"Now that your family member or friend has received a diagnosis of Alzheimers disease, its important to learn as much as you can about the disease and how to care for someone who has it. You may also want to know the right way to share the news with family and friends. Learning About Alzheimers Sometimes, you may feel that you don't know how to care for the person with Alzheimers. This is a common feeling among caregivers of people with Alzheimers because each day may bring different challenges. Learning about the disease can help you understand and cope with these challenges. Here is some information about Alzheimers and ways you can learn more about it. Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. They may have trouble taking care of themselves and doing basic things like making meals, bathing, and getting dressed. Alzheimers varies from person to person. It can progress faster in some people than in others, and not everyone will have the same symptoms. In general, though, Alzheimers takes many years to develop, becoming increasingly severe over time. As the disease gets worse, people need more help. Eventually, they require total care. Alzheimer's disease consists of three main stages: mild (sometimes called early-stage), moderate, and severe (sometimes called late-stage). Understanding these stages can help you care for your loved one and plan ahead. Mild Alzheimers Disease In the mild stage of Alzheimers, people often have some memory loss and small changes in personality. They may have trouble remembering recent events or the names of familiar people or things. They may no longer be able to solve simple math problems or balance a checkbook. People with mild Alzheimers also slowly lose the ability to plan and organize. For example, they may have trouble making a grocery list and finding items in the store. Moderate Alzheimers Disease In the moderate stage of Alzheimers, memory loss and confusion become more obvious. People have more trouble organizing, planning, and following instructions. They may need help getting dressed and may start having problems with bladder or bowel control. People with moderate Alzheimers may have trouble recognizing family members and friends. They may not know where they are or what day or year it is. They also may begin to wander, so they should not be left alone. Personality changes can become more serious. For example, people may make threats or accuse others of stealing. Severe Alzheimers Disease In the severe stage of Alzheimer's, people usually need help with all of their daily needs. They may not be able to walk or sit up without help. They may not be able to talk and often cannot recognize family members. They may have trouble swallowing and refuse to eat. For a short overview of Alzheimers, see Understanding Alzheimers Disease: What You Need to Know. Learn More About Alzheimers Disease So far, there is no cure for Alzheimers, but there are treatments that can prevent some symptoms from getting worse for a limited time. Here are some ways you can learn more about Alzheimers disease. - Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. - Check out books or videos about Alzheimers from the library. - Go to educational programs about the disease. - Visit the website of the National Institute on Agings Alzheimers Disease Education and Referral (ADEAR) Center. The Institute has a guide, Caring for a Person with Alzheimers Disease,which can be viewed online and ordered in print. - Read about Alzheimers disease on NIHSeniorHealth. - Find a support group for caregivers, ideally one in which members are taking care of someone who is in the same stage of Alzheimers as the person you are caring for. Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. Check out books or videos about Alzheimers from the library. Go to educational programs about the disease. Visit the website of the National Institute on Agings Alzheimers Disease Education and Referral (ADEAR) Center. The Institute has a guide, Caring for a Person with Alzheimers Disease,which can be viewed online and ordered in print. Read about Alzheimers disease on NIHSeniorHealth. Find a support group for caregivers, ideally one in which members are taking care of someone who is in the same stage of Alzheimers as the person you are caring for. Talking With Family and Friends When you learn that someone has Alzheimers disease, you may wonder when and how to tell your family and friends. You may be worried about how others will react to or treat the person. Others often sense that something is wrong before they are told. Alzheimers disease is hard to keep secret. When the time seems right, be honest with family, friends, and others. Use this as a chance to educate them about Alzheimers disease. You can share information to help them understand what you and the person with Alzheimers are going through. You can also tell them what they can do to help. You can help family and friends understand how to interact with the person who has Alzheimers. - Help them realize what the person can still do and how much he or she can still understand. - Give them suggestions about how to start talking with the person. For example, ""Hello George, I'm John. We used to work together."" - Help them avoid correcting the person with Alzheimers if he or she makes a mistake or forgets something. - Help them plan fun activities with the person, such as going to family reunions or visiting old friends. Help them realize what the person can still do and how much he or she can still understand. Give them suggestions about how to start talking with the person. For example, ""Hello George, I'm John. We used to work together."" Help them avoid correcting the person with Alzheimers if he or she makes a mistake or forgets something. Help them plan fun activities with the person, such as going to family reunions or visiting old friends. Helping Children Understand Alzheimers If the person with Alzheimers has young children or grandchildren, you can help them understand what is happening. Answer their questions simply and honestly. For example, you might tell a young child, ""Grandma has an illness that makes it hard for her to remember things."" Know that their feelings of sadness and anger are normal. Comfort them. Tell them they didn't cause the disease. If the child lives with someone who has Alzheimers, don't expect him or her to ""babysit"" the person. Make sure the child has time for his or her own interests and needs, such as playing with friends and going to school activities. Spend time with the child, so he or she doesn't feel that all your attention is on the person with Alzheimers. Many younger children will look to you to see how to act around the person with Alzheimers disease. Show children they can still talk with the person and help them enjoy things. Doing fun things together, like arts and crafts or looking through photo albums, can help both the child and the person with Alzheimer's. Challenges for Teens A teenager might find it hard to accept how the person with Alzheimers has changed. He or she may find the changes upsetting or embarrassing and not want to be around the person. Talk with teenagers about their concerns and feelings. Don't force them to spend time with the person who has Alzheimers. Get more information about helping family and friends understand Alzheimers disease.",NIHSeniorHealth,Alzheimer's Caregiving +What to do for Alzheimer's Caregiving ?,"Most people with Alzheimers disease are cared for at home by family members. Within families, caregiving is provided most often by wives and husbands, followed by daughters. As Alzheimers disease gets worse, the person will need more and more care. Because of this, you will need more help. It's okay to seek help whenever you need it. Building a local support system is a key way to get help. This system might include a caregiver support group, the local chapter of the Alzheimer's Association, family, friends, and faith groups. To learn where to get help in your community, contact - the Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or visit www.nia.nih.gov/alzheimers - the Alzheimer's Association at 1-800-272-3900. the Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or visit www.nia.nih.gov/alzheimers the Alzheimer's Association at 1-800-272-3900. Various professional services can help with everyday care in the home of someone with Alzheimers disease. Medicare, Medicaid, and other health insurance plans may help pay for these services. Contact Eldercare Locator to find the services you need in your area by calling 1-800-677-1116 or visiting www.eldercare.gov. Home Health Care Services Home health care agencies send a home health aide or nurse to your home to help you care for a person with Alzheimers. They may come for a few hours or stay for 24 hours and are paid by the hour. Some home health aides are better trained and supervised than others. Ask your doctor or other health care professional about good home health care services in your area. Get as much information as possible about a service before you sign an agreement. Also, ask for and check references Here are some questions to ask before signing a home health care agreement. - Is your service licensed and accredited? - How much do your services cost? - What is included and not included in your services? - How many days a week and hours a day will an aide come to my home? - How do you check the background and experience of your home health aides? - How do you train your home health aides? - What types of emergency care can you provide? - Who do I contact if there is a problem? Is your service licensed and accredited? How much do your services cost? What is included and not included in your services? How many days a week and hours a day will an aide come to my home? How do you check the background and experience of your home health aides? How do you train your home health aides? What types of emergency care can you provide? Who do I contact if there is a problem? For information about how to find home health care services, see Caring for a Person with Alzheimers Disease. Meal Services Meal services bring hot meals to the person's home or your home. The delivery staff does not feed the person. The person with Alzheimers disease must qualify for the service based on local guidelines. Some groups do not charge for their services. Others may charge a small fee. For information, call Eldercare Locator at 1-800-677-1116 or go to www.eldercare.gov. You may also contact Meals on Wheels at 1-888-998-6325. Adult Day Care Services Adult day care services provide a safe environment, activities, and staff who take care of the person with Alzheimers at their own facility. This provides a much-needed break for you. Many programs provide transportation between the persons home and the facility. Adult day care services generally charge by the hour. Most insurance plans do not cover these costs. To find adult day care services in your area, contact the National Adult Day Services Association at 1-877-745-1440. Watch a video to learn more about the services provided at adult day care. Respite Services Respite services provide short stays, from a few days to a few weeks, in a nursing home or other place for the person with Alzheimers disease. This care allows you to get a break or go on a vacation. Respite services charge by the number of days or weeks that services are provided. Medicare or Medicaid may cover the cost of up to 5 days in a row of respite care in an inpatient facility. Most private insurance plans do not cover these costs. To find respite services in your community, call the National Respite Locator Service at 1-800-773-5433 (toll-free). Geriatric Care Managers Geriatric care managers visit your home to assess your needs and suggest and arrange home-care services. They charge by the hour. Most insurance plans don't cover these costs. To find a geriatric care manager, contact the National Association of Professional Geriatric Care Managers at 1-520-881-8008. Mental Health Professionals and Social Workers Mental health professionals and social workers help you deal with any stress you may be feeling. They help you understand feelings, such as anger, sadness, or feeling out of control. They can also help you make plans for unexpected or sudden events. Mental health professionals charge by the hour. Medicare, Medicaid, and some private health insurance plans may cover some of these costs. Ask your health insurance plan which mental health counselors and services it covers. Then check with your doctor, local family service agencies, and community mental health agencies for referrals to counselors.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. They may have trouble taking care of themselves and doing basic things like making meals, bathing, and getting dressed. Alzheimers varies from person to person. It can progress faster in some people than in others, and not everyone will have the same symptoms. In general, though, Alzheimers takes many years to develop, becoming increasingly severe over time. As the disease gets worse, people need more help. Eventually, they require total care. For a short overview of Alzheimers, see Understanding Alzheimers Disease: What You Need to Know.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"Alzheimers disease has three stages: early (also called mild), middle (moderate), and late (severe). Understanding these stages can help you care for your loved one and plan ahead. A person in the early stage of Alzheimers disease may find it hard to remember things, ask the same questions over and over, lose things, or have trouble handling money and paying bills. As Alzheimers disease progresses to the middle stage, memory loss and confusion grow worse, and people may have problems recognizing family and friends. Other symptoms at this stage may include difficulty learning new things and coping with new situations; trouble carrying out tasks that involve multiple steps, like getting dressed; forgetting the names of common things; and wandering away from home. As Alzheimers disease becomes more severe, people lose the ability to communicate. They may sleep more, lose weight, and have trouble swallowing. Often they are incontinentthey cannot control their bladder and/or bowels. Eventually, they need total care.",NIHSeniorHealth,Alzheimer's Caregiving +What are the treatments for Alzheimer's Caregiving ?,"Currently, no medication can cure Alzheimers disease, but four medicines are approved to treat the symptoms of the disease. - Aricept (donezepil)for all stages of Alzheimers - Exelon (rivastigmine)for mild to moderate Alzheimers - Razadyne (galantamine)--for mild to moderate Alzheimers - Namenda (memantine)for moderate to severe Alzheimers - Namzarec (memantine and donepezil)for moderate to severe Alzheimers Aricept (donezepil)for all stages of Alzheimers Exelon (rivastigmine)for mild to moderate Alzheimers Razadyne (galantamine)--for mild to moderate Alzheimers Namenda (memantine)for moderate to severe Alzheimers Namzarec (memantine and donepezil)for moderate to severe Alzheimers These medications can help slow down memory loss and allow people with Alzheimers to be more comfortable and independent for a longer time. If appropriate, the persons doctor may prescribe a medicine to treat behavior problems such as anxiety, depression, and aggression. Medicines to treat these behavior problems should be used only after other strategies have been tried. Talk with the doctor about which medicines are safest and most effective.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"Here are some ways you can learn more about Alzheimers disease. - Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. - Check out books or videos about Alzheimers from the library. - Go to educational programs about the disease. - Visit the website of the National Institute on Aging's Alzheimer's Disease and Referral Center (ADEAR). - The National Institute on Aging has a book, Caring for a Person with Alzheimers Disease, that can be viewed and ordered at www.nia.nih.gov/alzheimers/publication/caring-person-alzheimers-disease - Read about Alzheimer's disease on NIHSeniorHealth. Talk with a doctor or other healthcare provider who specializes in Alzheimers disease. Check out books or videos about Alzheimers from the library. Go to educational programs about the disease. Visit the website of the National Institute on Aging's Alzheimer's Disease and Referral Center (ADEAR). The National Institute on Aging has a book, Caring for a Person with Alzheimers Disease, that can be viewed and ordered at www.nia.nih.gov/alzheimers/publication/caring-person-alzheimers-disease Read about Alzheimer's disease on NIHSeniorHealth.",NIHSeniorHealth,Alzheimer's Caregiving +How to diagnose Alzheimer's Caregiving ?,"When you learn that someone has Alzheimers disease, you may wonder when and how to tell your family and friends. You may be worried about how others will react to or treat the person. Others often sense that something is wrong before they are told. Alzheimers disease is hard to keep secret. When the time seems right, be honest with family, friends, and others. Use this as a chance to educate them about Alzheimers disease. You can share information to help them understand what you and the person with Alzheimers are going through. You can also tell them what they can do to help. Get more information about helping family and friends understand Alzheimer's disease.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"Eating healthy foods helps us stay well. It's even more important for people with Alzheimers disease. When a person with Alzheimer's lives with you -- - Buy healthy foods such as vegetables, fruits, and whole-grain products. Be sure to buy foods that the person likes and can eat. - Buy food that is easy to prepare, such as pre-made salads and single food portions. - Have someone else make meals if possible. - Use a service such as Meals on Wheels, which will bring meals right to your home. For more information, check your local phone book, or contact the Meals on Wheels organization at 1 (888) 998-6325. Buy healthy foods such as vegetables, fruits, and whole-grain products. Be sure to buy foods that the person likes and can eat. Buy food that is easy to prepare, such as pre-made salads and single food portions. Have someone else make meals if possible. Use a service such as Meals on Wheels, which will bring meals right to your home. For more information, check your local phone book, or contact the Meals on Wheels organization at 1 (888) 998-6325. (Watch the video to learn about simplifying mealtimes for a person with Alzheimer's. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) When a person with early-stage Alzheimers lives alone -- - Follow the steps above - Buy foods that the person doesn't need to cook. - Call to remind him or her to eat. Follow the steps above Buy foods that the person doesn't need to cook. Call to remind him or her to eat. In the early stage of Alzheimers disease, the person's eating habits usually don't change. When changes do occur, living alone may not be safe anymore. Look for these signs to see if living alone is no longer safe for the person with Alzheimers. - The person forgets to eat. - Food has burned because it was left on the stove. - The oven isn't turned off. The person forgets to eat. Food has burned because it was left on the stove. The oven isn't turned off.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"To find out about residential care facilities in your area, talk with your support group members, social worker, doctor, family members, and friends. Also, check the following resources. Centers for Medicare and Medicaid Services (CMS) 7500 Security Boulevard Baltimore, MD 21244-1850 1-800-MEDICARE (1-800-633-4227) 1-877-486-2048 (toll-free TTY number) www.medicare.gov MS has a guide, Your Guide to Choosing a Nursing Home or Other Long Term Care,"" to help older people and their caregivers choose a good nursing home. It describes types of long-term care, questions to ask the nursing home staff, and ways to pay for nursing home care. CMS also offers a service called Nursing Home Compare on its website. This service has information on nursing homes that are Medicare or Medicaid certified. These nursing homes provide skilled nursing care. Please note that there are many other places that provide different levels of health care and help with daily living. Many of these facilities are licensed only at the State level. CMS also has information about the rights of nursing home residents and their caregivers. Joint Commission One Renaissance Boulevard Oakbrook Terrace, IL 60181 1-630-792-5000 www.jointcommission.org The Joint Commission evaluates nursing homes, home health care providers, hospitals, and assisted living facilities to determine whether or not they meet professional standards of care. Consumers can learn more about the quality of health care facilities through their online service at www.qualitycheck.org. Other resources include - AARP 601 E Street, NW Washington, DC 20049 1-888-OUR-AARP (1-888-687-2277) www.aarp.org/family/housing - Assisted Living Federation of America 1650 King Street, Suite 602 Alexandria, VA 22314 1-703-894-1805 www.alfa.org - National Center for Assisted Living 1201 L Street, NW Washington, DC 20005 1-202-842-4444 www.ncal.org AARP 601 E Street, NW Washington, DC 20049 1-888-OUR-AARP (1-888-687-2277) www.aarp.org/family/housing Assisted Living Federation of America 1650 King Street, Suite 602 Alexandria, VA 22314 1-703-894-1805 www.alfa.org National Center for Assisted Living 1201 L Street, NW Washington, DC 20005 1-202-842-4444 www.ncal.org",NIHSeniorHealth,Alzheimer's Caregiving +What to do for Alzheimer's Caregiving ?,"As Alzheimers disease gets worse, you will need more help to care for the person. It's okay to seek help whenever you need it. Several kinds of help are available. - Home health care agencies send a home health aide or nurse to your home to help you care for a person with Alzheimers. They may come for a few hours or stay for 24 hours and are paid by the hour. Home health care agencies send a home health aide or nurse to your home to help you care for a person with Alzheimers. They may come for a few hours or stay for 24 hours and are paid by the hour. - Meal services bring hot meals to the person's home or your home. The delivery staff does not feed the person. Some groups do not charge for their services. Others may charge a small fee. Meal services bring hot meals to the person's home or your home. The delivery staff does not feed the person. Some groups do not charge for their services. Others may charge a small fee. - Adult day care services provide a safe environment, activities, and staff who take care of the person with Alzheimers at their own facility. Many programs provide transportation between the persons home and the facility. Watch a video to see what services adult day care provides. Adult day care services provide a safe environment, activities, and staff who take care of the person with Alzheimers at their own facility. Many programs provide transportation between the persons home and the facility. Watch a video to see what services adult day care provides. - Geriatric care managers visit your home to assess your needs and suggest and arrange home-care services. They charge by the hour. Most insurance plans don't cover these costs. Geriatric care managers visit your home to assess your needs and suggest and arrange home-care services. They charge by the hour. Most insurance plans don't cover these costs.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Alzheimer's Caregiving ?,"Everyone needs help at times. However, many caregivers find it hard to ask for help. They may feel they should be able to do everything themselves, or that it's not all right to leave the person in their care with someone else. Or maybe they cant afford to pay someone to watch the person for an hour or two. Family members, friends, and community resources can help caregivers of people with Alzheimers disease. Here are some tips about asking for help. - It's okay to ask for help from family, friends, and others. You don't have to do everything yourself. - Ask people to help out in specific ways, like making a meal, visiting the person, or taking the person out for a short time. - Call for help from home health care or adult day care services when needed. - Use national and local resources to find out how to pay for some of this help. It's okay to ask for help from family, friends, and others. You don't have to do everything yourself. Ask people to help out in specific ways, like making a meal, visiting the person, or taking the person out for a short time. Call for help from home health care or adult day care services when needed. Use national and local resources to find out how to pay for some of this help. To learn where to get help in your community, contact - The Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or www.nia.nih.gov/alzheimers - The Alzheimer's Association, 1-800-272-3900 or www.alz.org - The Eldercare Locator, 1-800-677-1116 or www.eldercare.gov. The Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or www.nia.nih.gov/alzheimers The Alzheimer's Association, 1-800-272-3900 or www.alz.org The Eldercare Locator, 1-800-677-1116 or www.eldercare.gov. You can also contact your local area agency on aging.",NIHSeniorHealth,Alzheimer's Caregiving +What is (are) Dry Eye ?,"Poor Tear Production Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eyes may sting and burn and you may have redness and a sandy or gritty feeling, as if something is in your eye. You may have blurry vision and your eyes may feel tired. Having dry eyes can make it harder to do some activities, such as using a computer or reading for a long period of time, and it can make it hard to be in dry places, such as on an airplane. Tears and Eye Health Tears are necessary for overall eye health and clear vision. The eye constantly makes tears to bathe, nourish, and protect the cornea. The cornea is the clear, dome-shaped outer surface that covers the eye in front of the iris, which is the colored part of the eye. The eye also makes tears in response to emergencies, such as a particle of dust in the eye, an infection or irritation of the eye, or an onset of strong emotions. Tears keep the eye moist, and wash away dust and debris. They also help protect the eye from infections. Tears are made of proteins (including growth factors), body salts, and vitamins that maintain the health of the eye surface and prevent infection. Tear Components Tears have three major components. - an outer, oily, fat layer produced by the meibomian glands (located in the eyelids) - a middle, watery, layer produced by the lacrimal glands (located just above the upper, outer corner of the eye) - an inner, mucous layer produced by goblet cells (located within a thin clear layer which covers the white part of the eye and the inner surface of the eyelids called the conjunctiva). an outer, oily, fat layer produced by the meibomian glands (located in the eyelids) a middle, watery, layer produced by the lacrimal glands (located just above the upper, outer corner of the eye) an inner, mucous layer produced by goblet cells (located within a thin clear layer which covers the white part of the eye and the inner surface of the eyelids called the conjunctiva). When the lacrimal glands do not make enough tears, dry eye can result. Any disease process that changes the components of tears can make them unhealthy and result in dry eye. Type of Dry Eye There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy cornea. Evaporative dry eye may result from inflammation of the meibomian glands, located in the eyelids. These glands make the oily part of tears that slows evaporation and keeps the tears stable. Most people with dry eye will not have serious problems, but severe dry eye may lead to inflammation, ulcers, or scars on the cornea, and some loss of vision. Permanent loss of vision from dry eye is uncommon.",NIHSeniorHealth,Dry Eye +What causes Dry Eye ?,"Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of surgery, environmental factors, and allergies. Many Older People Have Dry Eye Elderly people often have dryness of the eyes, but dry eye can occur at any age. Nearly five million Americans 50 years of age and older are estimated to have dry eye. Of these, more than three million are women and more than one and a half million are men. Tens of millions more have less severe symptoms. Dry eye is more common after menopause. Women who experience menopause prematurely are more likely to have eye surface damage from dry eye. Medications Dry eye can be a side effect of some medications, including antihistamines, nasal decongestants, tranquilizers, certain blood pressure medicines, Parkinson's medications, and some anti-depressants. Women who are on hormone replacement therapy may experience dry eye symptoms. Eyelid Function Eyelid function can also be a factor in dry eye. Diseases that affect the eyelid, such as meibomian gland dysfunction, can also cause dry eye. Dry eye may also occur from exposure keratitis, in which the eyelids do not close properly during normal blinking or sleep. Skin diseases on or around the eyelids can result in dry eye. Infrequent blinking associated with staring at computer or video screens also may lead to dry eye symptoms. Systemic Diseases Certain diseases can cause dry eye. Chronic inflammation of the conjunctiva, or the lacrimal glands, can cause dry eye. Immune system disorders such as Sjgren's syndrome, systemic lupus erythematosus, and rheumatoid arthritis also can cause dry eye. Sjgren's syndrome leads to inflammation and dryness of the mouth, eyes, and other mucous membranes. Thyroid disease, which can sometimes cause the eye to bulge out, can also lead to dry eye by increasing the surface area of the eye exposed to the environment. Surgeries Some types of surgery can lead to dry eye. For example, dry eye can develop after the refractive surgery known as LASIK. These symptoms generally last three to six months, but may last longer in some cases. Dry eye can also occur as a result of cosmetic surgery that widens the eyelids too much and increases the surface area of the eye exposed to the environment. Environment Environmental exposure to irritants such as chemical fumes and tobacco smoke, or drafts from air conditioning or heating can cause dry eye. Wearing contact lenses over a long period of time can lead to a loss of feeling in the cornea and this can cause dry eye. Allergies also can be associated with dry eye.",NIHSeniorHealth,Dry Eye +What are the symptoms of Dry Eye ?,"Symptoms of Dry Eye Dry eye symptoms may include any of the following. - stinging or burning of the eye - a sandy or gritty feeling as if something is in the eye - episodes of excess tears following very dry eye periods - a stringy discharge from the eye - pain and redness of the eye - episodes of blurred vision - heavy eyelids - inability to cry when emotionally stressed - uncomfortable contact lenses - decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time - eye fatigue. stinging or burning of the eye a sandy or gritty feeling as if something is in the eye episodes of excess tears following very dry eye periods a stringy discharge from the eye pain and redness of the eye episodes of blurred vision heavy eyelids inability to cry when emotionally stressed uncomfortable contact lenses decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time eye fatigue. If you have symptoms that you think could result from dry eye, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment. Diagnosing Dry Eye Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). He or she will test your vision, check your eye pressure, examine your eyelids and front eye structures, and, if necessary, may dilate the pupils to examine the inside of the eye. Your eye care professional may order a tearing test to find out if you are making enough tears to keep your eyes moist. In one type of test, called a Schirmers test, the doctor may measure your tear production by placing strips of blotting paper under your lower eyelids, usually done after numbing the eye with anesthetic drops. After a few minutes, the doctor removes the strips and measures the amount of tear production.",NIHSeniorHealth,Dry Eye +What are the treatments for Dry Eye ?,"Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. - Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. - Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. - Avoid dry conditions. - Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. Avoid dry conditions. Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. If symptoms of dry eye persist, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment to avoid permanent damage. Goal of Treatment Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. (This short video discusses causes, symptoms, and treatments for dry eye.) Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Types of Treatments - Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. - Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. - Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. - Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. - Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed.",NIHSeniorHealth,Dry Eye +What is (are) Dry Eye ?,"Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eyes may sting and burn and you may have redness and a sandy or gritty feeling, as if something is in your eye. You may have blurry vision and you may feel eye fatigue. Having dry eyes can make it harder to do some activities, such as using a computer or reading for a long period of time, and it can make it hard to be in dry places, such as on an airplane. (This short video discusses causes, symptoms, and treatments for dry eye.)",NIHSeniorHealth,Dry Eye +What is (are) Dry Eye ?,"There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy eye surface, called the cornea. Evaporative dry eye may result from inflammation of the meibomian glands, located in the eyelids. These glands make the oily part of tears that slows evaporation and keeps the tears stable. Dry eye can be associated with - inflammation of the surface of the eye (cornea), the lacrimal gland, or the conjunctiva (the surface layer of tissue that lines the eyelids and covers the front part of the eye) - any disease process that alters the components of the tears - an increase in the surface of the eye, as in thyroid disease when the eye bulges forward - cosmetic surgery, if the eyelids are opened too widely. inflammation of the surface of the eye (cornea), the lacrimal gland, or the conjunctiva (the surface layer of tissue that lines the eyelids and covers the front part of the eye) any disease process that alters the components of the tears an increase in the surface of the eye, as in thyroid disease when the eye bulges forward cosmetic surgery, if the eyelids are opened too widely.",NIHSeniorHealth,Dry Eye +What causes Dry Eye ?,"Most people with dry eye will not have serious problems, but severe dry eye may lead to inflammation, ulcers, or scars on the cornea, and some loss of vision. Permanent loss of vision from dry eye is uncommon.",NIHSeniorHealth,Dry Eye +What is (are) Dry Eye ?,"The cornea is the clear, dome-shaped outer surface that covers the eye in front of the iris, which is the colored part of the eye. The cornea helps protect the rest of the eye from germs, dust, and other harmful matter. The cornea is a highly organized, clear structure made up of a group of cells and proteins precisely arranged in layers, but it has no blood vessels to nourish or protect it against infection. Instead, it gets its nourishment from the tears and the watery fluid (aqueous humor) that fill the chamber behind it.",NIHSeniorHealth,Dry Eye +What causes Dry Eye ?,"If your eyes dont make enough tears it can cause dry eye. Anything that changes the components of tears can cause dry eye. Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of eye surgery, environmental factors, and allergies.",NIHSeniorHealth,Dry Eye +What are the symptoms of Dry Eye ?,"Dry eye symptoms may include any of the following. - stinging or burning of the eye - a sandy or gritty feeling as if something is in the eye - episodes of excess tears following very dry eye periods - a stringy discharge from the eye - pain and redness of the eye - episodes of blurred vision - heavy eyelids - inability to cry when emotionally stressed - uncomfortable contact lenses - decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time - eye fatigue. stinging or burning of the eye a sandy or gritty feeling as if something is in the eye episodes of excess tears following very dry eye periods a stringy discharge from the eye pain and redness of the eye episodes of blurred vision heavy eyelids inability to cry when emotionally stressed uncomfortable contact lenses decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time eye fatigue. If you have symptoms that you think could result from dry eye, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment.",NIHSeniorHealth,Dry Eye +How to diagnose Dry Eye ?,"Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). He or she will test your vision, check your eye pressure, examine your eyelids and front eye structures, and if necessary may dilate the pupils to examine the inside of the eye. Your eye care professional may order a tearing test to find out if your eyes are producing enough tears to keep them moist. In one type of test, called a Schirmers test, the doctor may measure your tear production by placing strips of blotting paper under your lower eyelids, usually done after numbing the eye with anesthetic drops. After a few minutes, the doctor removes the strips and measures the amount of tear production.",NIHSeniorHealth,Dry Eye +What are the treatments for Dry Eye ?,"Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Here are treatments for dry eye. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation under close observation by an eye care professional. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the drainage holes, small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed.",NIHSeniorHealth,Dry Eye +What is (are) Dry Eye ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov",NIHSeniorHealth,Dry Eye +What is (are) Gum (Periodontal) Disease ?,"An Infection of the Gums and Surrounding Tissues Gum (periodontal) disease is an infection of the gums and surrounding tissues that hold teeth in place. The two forms of gum disease are gingivitis, a mild form that is reversible with good oral hygiene, and periodontitis, a more severe form that can damage the soft tissues and bone that support teeth. If left untreated, periodontitis can lead to tooth loss. In its early stages, gum disease is usually painless, and many people are not aware that they have it. In more advanced cases, gum disease can cause sore gums and pain when chewing. Not A Normal Part of Aging The good news is that gum disease can be prevented. It does not have to be a part of growing older. With thorough brushing and flossing and regular professional cleanings by your dentist, you can reduce your risk of developing gum disease as you age. If you have been treated for gum disease, sticking to a proper oral hygiene routine and visiting your dentist for regular cleanings can minimize the chances that it will come back. Plaque Buildup Can Form Tartar Gum disease is typically caused by poor brushing and flossing habits that allow dental plaque -- a sticky film of bacteria -- to build up on the teeth. Plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar. Gum disease can range from simple gum inflammation to serious disease. The two forms of gum disease are gingivitis and periodontitis. Gingivitis and Periodontitis In gingivitis, the gums become red, swollen and can bleed easily. Gingivitis can usually be reversed with daily brushing and flossing, and regular cleaning by a dentist or dental hygienist. This form of gum disease does not include any loss of bone and tissue that hold teeth in place. When gingivitis is not treated, it can advance to periodontitis. In periodontitis, gums pull away from the teeth and form spaces (called ""pockets"") that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. Bacterial toxins and the body's natural response to infection start to break down the bone and connective tissue that hold teeth in place. If not treated, the bones, gums, and tissue that support the teeth are destroyed. The teeth may eventually become loose and may have to be removed.",NIHSeniorHealth,Gum (Periodontal) Disease +How to prevent Gum (Periodontal) Disease ?,"Risk Factors There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease. Smoking can also lower the chances for successful treatment. - Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. - People with diabetes are at higher risk for developing infections, including gum disease. - Diseases like cancer or AIDS and their treatments can also negatively affect the health of gums. - There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. - Some people are more prone to severe gum disease because of their genetic makeup. Smoking is one of the most significant risk factors associated with the development of gum disease. Smoking can also lower the chances for successful treatment. Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. People with diabetes are at higher risk for developing infections, including gum disease. Diseases like cancer or AIDS and their treatments can also negatively affect the health of gums. There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. Some people are more prone to severe gum disease because of their genetic makeup. Prevention Here are some things you can do to prevent gum disease. - Brush your teeth twice a day (with a fluoride toothpaste). - Floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. Visit the dentist routinely for a check-up and professional cleaning. - Visit the dentist routinely for a check-up and professional cleaning. - Don't smoke. - Eat a well-balanced diet. (For more information, see ""Eating Well As You Get Older"" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html Brush your teeth twice a day (with a fluoride toothpaste). Floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. Visit the dentist routinely for a check-up and professional cleaning. Visit the dentist routinely for a check-up and professional cleaning. Don't smoke. Eat a well-balanced diet. (For more information, see ""Eating Well As You Get Older"" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html Tips for Easier At-Home Care - If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. - Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. - Another way to make the toothbrush easier to hold is to attach the brush to the hand with a wide elastic or rubber band. Another way to make the toothbrush easier to hold is to attach the brush to the hand with a wide elastic or rubber band. - Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. - You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. - Try other toothbrush options. A power toothbrush might make brushing easier. Try other toothbrush options. A power toothbrush might make brushing easier. - A floss holder can make it easier to hold the dental floss. - Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the symptoms of Gum (Periodontal) Disease ?,"Symptoms Symptoms of gum disease may include: - bad breath that won't go away - red or swollen gums - tender or bleeding gums - painful chewing - loose teeth - sensitive teeth - receding gums or longer appearing teeth bad breath that won't go away red or swollen gums tender or bleeding gums painful chewing loose teeth sensitive teeth receding gums or longer appearing teeth If You Have Symptoms Any of these symptoms may be a sign of a serious problem that should be checked by a dentist. Sometimes gum disease has no clear symptoms. At your dental visit, the dentist or hygienist should - ask about your medical history to identify any conditions or risk factors (such as smoking) that may contribute to gum disease. - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. This test for pocket depth is usually painless. ask about your medical history to identify any conditions or risk factors (such as smoking) that may contribute to gum disease. examine your gums and note any signs of inflammation. use a tiny ruler called a 'probe' to check for and measure any pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. This test for pocket depth is usually painless. The dentist or hygienist may also - take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. - refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist. take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"Controlling the Infection The main goal of treatment is to control the infection. The number and types of treatment will vary, depending on how far the disease has advanced. Any type of treatment requires the patient to keep up good daily care at home. The doctor may also suggest changing certain behaviors, such as quitting smoking, as a way to improve treatment outcome. Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts. Deep Cleaning (Scaling and Planing) In deep cleaning, the dentist, periodontist, or dental hygienist removes the plaque through a method called scaling and root planing. Scaling means scraping off the tartar from above and below the gum line. Root planing gets rid of rough spots on the tooth root where the germs gather, and helps remove bacteria that contribute to the disease. In some cases a laser may be used to remove plaque and tartar. This procedure can result in less bleeding, swelling, and discomfort compared to traditional deep cleaning methods. Medications Medications may be used with treatment that includes scaling and root planing, but they cannot always take the place of surgery. Depending on how far the disease has progressed, the dentist or periodontist may still suggest surgical treatment. Long-term studies are needed to find out if using medications reduces the need for surgery and whether they are effective over a long period of time. Flap Surgery Surgery might be necessary if inflammation and deep pockets remain following treatment with deep cleaning and medications. A dentist or periodontist may perform flap surgery to remove tartar deposits in deep pockets or to reduce the periodontal pocket and make it easier for the patient, dentist, and hygienist to keep the area clean. This common surgery involves lifting back the gums and removing the tartar. The gums are then sutured back in place so that the tissue fits snugly around the tooth again. After surgery, the gums will shrink to fit more tightly around the tooth. This sometimes results in the teeth appearing longer. Bone and Tissue Grafts In addition to flap surgery, your periodontist or dentist may suggest procedures to help regenerate any bone or gum tissue lost to periodontitis. - Bone grafting, in which natural or synthetic bone is placed in the area of bone loss, can help promote bone growth. A technique that can be used with bone grafting is called guided tissue regeneration. In this procedure, a small piece of mesh-like material is inserted between the bone and gum tissue. This keeps the gum tissue from growing into the area where the bone should be, allowing the bone and connective tissue to regrow. Bone grafting, in which natural or synthetic bone is placed in the area of bone loss, can help promote bone growth. A technique that can be used with bone grafting is called guided tissue regeneration. In this procedure, a small piece of mesh-like material is inserted between the bone and gum tissue. This keeps the gum tissue from growing into the area where the bone should be, allowing the bone and connective tissue to regrow. - Growth factors proteins that can help your body naturally regrow bone may also be used. In cases where gum tissue has been lost, your dentist or periodontist may suggest a soft tissue graft, in which synthetic material or tissue taken from another area of your mouth is used to cover exposed tooth roots. Growth factors proteins that can help your body naturally regrow bone may also be used. In cases where gum tissue has been lost, your dentist or periodontist may suggest a soft tissue graft, in which synthetic material or tissue taken from another area of your mouth is used to cover exposed tooth roots. Since each case is different, it is not possible to predict with certainty which grafts will be successful over the long-term. Treatment results depend on many things, including how far the disease has progressed, how well the patient keeps up with oral care at home, and certain risk factors, such as smoking, which may lower the chances of success. Ask your periodontist what the level of success might be in your particular case. Treatment Results Treatment results depend on many things, including how far the disease has progressed, how well the patient keeps up with home care, and certain risk factors, such as smoking, which may lower the chances of success. Ask your periodontist what the likelihood of success might be in your particular case. Consider Getting a Second Opinion When considering any extensive dental or medical treatment options, you should think about getting a second opinion. To find a dentist or periodontist for a second opinion, call your local dental society. They can provide you with names of practitioners in your area. Also, dental schools may sometimes be able to offer a second opinion. Call the dental school in your area to find out whether it offers this service.",NIHSeniorHealth,Gum (Periodontal) Disease +What is (are) Gum (Periodontal) Disease ?,"Gum disease is an infection of the tissues that hold your teeth in place. In its early stages, it is usually painless, and many people are not aware that they have it. But in more advanced stages, gum disease can lead to sore or bleeding gums, painful chewing problems, and even tooth loss.",NIHSeniorHealth,Gum (Periodontal) Disease +What causes Gum (Periodontal) Disease ?,Gum disease is caused by dental plaque -- a sticky film of bacteria that builds up on teeth. Regular brushing and flossing help get rid of plaque. But plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar.,NIHSeniorHealth,Gum (Periodontal) Disease +What is (are) Gum (Periodontal) Disease ?,"Gingivitis is inflammation of the gums. In gingivitis, the gums become red, swollen and can bleed easily. Gingivitis is a mild form of gum disease. It can usually be reversed with daily brushing and flossing, and regular cleaning by a dentist or dental hygienist. This form of gum disease does not include any loss of bone and tissue that hold teeth in place.",NIHSeniorHealth,Gum (Periodontal) Disease +What is (are) Gum (Periodontal) Disease ?,"When gingivitis is not treated, it can advance to periodontitis (which means ""inflammation around the tooth."") In periodontitis, gums pull away from the teeth and form ""pockets"" that become infected. The body's immune system fights the bacteria as the plaque spreads and grows below the gum line. Bacterial toxins and the body's enzymes fighting the infection actually start to break down the bone and tissue that hold teeth in place. If not treated, the bones, gums, and tissue that support the teeth are destroyed. The teeth may eventually become loose and have to be removed.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"If left untreated, gum disease can lead to tooth loss. Gum disease is the leading cause of tooth loss in older adults.",NIHSeniorHealth,Gum (Periodontal) Disease +What causes Gum (Periodontal) Disease ?,"In some studies, researchers have observed that people with periodontal disease (when compared to people without periodontal disease) were more likely to develop heart disease or have difficulty controlling their blood sugar. But so far, it has not been determined whether periodontal disease is the cause of these conditions. There may be other reasons people with periodontal disease sometimes develop additional health problems. For example, something else may be causing both the gum disease and the other condition, or it could be a coincidence that gum disease and other health problems are present together. More research is needed to clarify whether gum disease actually causes health problems beyond the mouth, and whether treating gum disease can keep other health conditions from developing. In the meantime, it's a fact that controlling periodontal disease can save your teeth -- a very good reason to take care of your teeth and gums.",NIHSeniorHealth,Gum (Periodontal) Disease +Who is at risk for Gum (Periodontal) Disease? ?,"There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease and can even lower the chances for successful treatment. - Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. - Diabetes puts people at higher risk for developing infections, including gum disease. - Diseases like cancer or AIDS and their treatments can also affect the health of gums. - There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. - Some people are more prone to severe gum disease because of their genetic makeup. Smoking is one of the most significant risk factors associated with the development of gum disease and can even lower the chances for successful treatment. Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. Diabetes puts people at higher risk for developing infections, including gum disease. Diseases like cancer or AIDS and their treatments can also affect the health of gums. There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. Some people are more prone to severe gum disease because of their genetic makeup.",NIHSeniorHealth,Gum (Periodontal) Disease +How to prevent Gum (Periodontal) Disease ?,"Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste). - floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. - visit the dentist routinely for a check-up and professional cleaning. - not smoke. - eat a well-balanced diet. (For more information, see ""Eating Well As You Get Older"" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html) brush your teeth twice a day (with a fluoride toothpaste). floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. visit the dentist routinely for a check-up and professional cleaning. not smoke. eat a well-balanced diet. (For more information, see ""Eating Well As You Get Older"" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html)",NIHSeniorHealth,Gum (Periodontal) Disease +What causes Gum (Periodontal) Disease ?,"If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. Attaching foam tubing, available from home health care catalogs, is also helpful. Try other toothbrush options. A power toothbrush might make brushing easier. Some people may find that it takes time to get used to a power toothbrush. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the symptoms of Gum (Periodontal) Disease ?,People are not often aware they have gum disease until it is advanced. Any of these symptoms may be a sign of a serious problem and should be checked by a dentist. - bad breath that won't go away - red or swollen gums - tender or bleeding gums - painful chewing - loose teeth - sensitive teeth - receding gums or longer appearing teeth bad breath that won't go away red or swollen gums tender or bleeding gums painful chewing loose teeth sensitive teeth receding gums or longer appearing teeth Sometimes gum disease has no clear symptoms.,NIHSeniorHealth,Gum (Periodontal) Disease +How to diagnose Gum (Periodontal) Disease ?,"The dentist will ask about your medical history to identify any conditions or risk factors such as smoking that may contribute to gum disease. The dentist or hygienist will also - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. - take an x-ray to see whether there is any bone loss. examine your gums and note any signs of inflammation. use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. take an x-ray to see whether there is any bone loss. The dentist or hygienist may also - take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. - refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist. take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"In deep cleaning, the dentist, periodontist, or dental hygienist removes the plaque through a method called scaling and root planing. Scaling means scraping off the tartar from above and below the gum line. Root planing gets rid of rough spots on the tooth root where the germs gather, and helps remove bacteria that contribute to the disease.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"Medications may be used with treatment that includes scaling and root planing. Depending on how far the disease has progressed, the dentist or periodontist may also suggest surgical treatment. Long-term studies are needed to find out if using medications reduces the need for surgery and whether they are effective over a long period of time.",NIHSeniorHealth,Gum (Periodontal) Disease +What are the treatments for Gum (Periodontal) Disease ?,"Surgery might be necessary if inflammation and deep pockets remain following treatment with deep cleaning and medications. A periodontist may perform flap surgery to remove tartar deposits in deep pockets or to reduce the periodontal pocket and make it easier for the patient, dentist, and hygienist to keep the area clean. This common surgery involves lifting back the gums and removing the tartar. The gums are then sutured back in place so that the tissue fits snugly around the tooth again.",NIHSeniorHealth,Gum (Periodontal) Disease +What is (are) Heart Failure ?,"In heart failure, the heart cannot pump enough blood to meet the body's needs. In some cases, the heart cannot fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. Heart failure develops over time as the pumping action of the heart gets weaker. It can affect either the right, the left, or both sides of the heart. Heart failure does not mean that the heart has stopped working or is about to stop working. When heart failure affects the left side of the heart, the heart cannot pump enough oxygen-rich blood to the rest of the body. When heart failure affects the right side, the heart cannot pump enough blood to the lungs, where it picks up oxygen. The Heart's Pumping Action In normal hearts, blood vessels called veins bring oxygen-poor blood from the body to the right side of the heart. It is then pumped through the pulmonary artery to the lungs, picking up oxygen. From there, the blood returns to the left side of the heart. Then it is pumped through a large artery called the aorta that distributes blood throughout the body. When the heart is weakened by heart failure, blood and fluid can back up into the lungs, and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath. Heart Failure is Serious Heart failure is a serious and common condition. Scientists estimate that 5 million people in the U.S. have heart failure and that number is growing. It contributes to 300,000 deaths each year. Heart failure is most common in those age 65 and older and it is the number one reason older people are hospitalized. Other Names for Heart Failure Heart failure can also be called congestive heart failure, systolic heart failure, diastolic heart failure, left-sided heart failure, or right-sided heart failure.",NIHSeniorHealth,Heart Failure +What causes Heart Failure ?,"Heart failure is caused by other diseases or conditions that damage the heart muscle such as coronary artery disease (including heart attacks), diabetes, and high blood pressure. Treating these problems can prevent or improve heart failure. Coronary Artery Disease Coronary artery disease is a leading cause of death in men and women. It happens when the arteries that supply blood to the heart become hardened and narrowed. High Blood Pressure High blood pressure is the force of blood pushing against the walls of the arteries. If this pressure rises and stays high over time, it can weaken your heart and lead to plaque buildup, which can then lead to heart failure. Diabetes Diabetes is characterized by having too much glucose, or sugar, in the blood for a long time. This can cause heart problems because high blood glucose can damage parts of the body such as the heart and blood vessels. This damage weakens the heart, often leading to heart failure. Other Diseases Other diseases and conditions also can lead to heart failure, such as - Cardiomyopathy (KAR-de-o-mi-OP-ah-thee), or heart muscle disease. Cardiomyopathy may be present at birth or caused by injury or infection. - Heart valve disease. Problems with the heart valves may be present at birth or caused by infection, heart attack, or damage from heart disease. - Arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These heart problems may be present at birth or caused by heart disease or heart defects. - Congenital (kon-JEN-ih-tal) heart defects. These problems with the heart's structure are present at birth. Cardiomyopathy (KAR-de-o-mi-OP-ah-thee), or heart muscle disease. Cardiomyopathy may be present at birth or caused by injury or infection. Heart valve disease. Problems with the heart valves may be present at birth or caused by infection, heart attack, or damage from heart disease. Arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These heart problems may be present at birth or caused by heart disease or heart defects. Congenital (kon-JEN-ih-tal) heart defects. These problems with the heart's structure are present at birth. Other Factors Other factors also can injure the heart muscle and lead to heart failure. Examples include - treatments for cancer, such as radiation and chemotherapy - thyroid disorders (having either too much or too little thyroid hormone in the body) - alcohol abuse or cocaine and other illegal drug use - HIV/AIDS - too much vitamin E. treatments for cancer, such as radiation and chemotherapy thyroid disorders (having either too much or too little thyroid hormone in the body) alcohol abuse or cocaine and other illegal drug use HIV/AIDS too much vitamin E. Sleep Apnea Heart damage from obstructive sleep apnea may worsen heart failure. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Sleep apnea can deprive your heart of oxygen and increase its workload. Treating this sleep disorder might improve heart failure. Who Is at Risk? Heart failure can happen to almost anyone. It is the number one reason for hospitalization for people over age 65. Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.",NIHSeniorHealth,Heart Failure +Who is at risk for Heart Failure? ?,"Preventing Heart Failure There are a number of things you can do to reduce the risk for coronary artery disease and heart failure. These things include - keeping your cholesterol levels healthy - keeping your blood pressure at a normal level - managing diabetes - maintaining a healthy weight - quitting smoking - limiting the amount of alcohol you drink - following a heart healthy diet - limiting the amount of sodium (salt) you consume - getting regular exercise - avoiding using illegal drugs. keeping your cholesterol levels healthy keeping your blood pressure at a normal level managing diabetes maintaining a healthy weight quitting smoking limiting the amount of alcohol you drink following a heart healthy diet limiting the amount of sodium (salt) you consume getting regular exercise avoiding using illegal drugs. Keep Your Cholesterol Levels Healthy Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or ""bad,"" cholesterol, depends on how many other risk factors you have. Risk factors include - being a cigarette smoker - having high blood pressure - having low HDL cholesterol - being 45 or older if you are a man and 55 or older if you are a woman - having a close relative who had coronary artery disease at an earlier-than-usual age (before age 55 for male relatives and before age 65 for female relatives). being a cigarette smoker having high blood pressure having low HDL cholesterol being 45 or older if you are a man and 55 or older if you are a woman having a close relative who had coronary artery disease at an earlier-than-usual age (before age 55 for male relatives and before age 65 for female relatives). Recommended LDL Cholesterol Goals - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. - If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. - If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. - The goal for HDL, or ""good,"" cholesterol is above 40 in men and above 50 in women. - The goal for triglycerides, another fat in the blood, is below 150. If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. The goal for HDL, or ""good,"" cholesterol is above 40 in men and above 50 in women. The goal for triglycerides, another fat in the blood, is below 150. Learn how to control your cholesterol with TLC -- Therapeutic Lifestyle Changes. Keep Blood Pressure at a Normal Level High blood pressure causes the heart to get larger and work harder, which can then lead to heart failure. You should aim for a blood pressure level of 130/80 or below. Talk to your doctor about ways to lower your blood pressure. Get tips on how to control your blood pressure. Manage Diabetes If you have diabetes, its important to manage it properly. Diabetes is characterized by having too much glucose, or sugar, in the blood for a long time. This can cause heart problems because high blood glucose can damage parts of the body such as the heart and blood vessels. This damage weakens the heart, often leading to heart failure. See ways to manage your diabetes every day. Maintain a Healthy Weight Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. See a sensible approach to weight loss. Don't Smoke If you smoke, quit. For free help quitting, call a smoking quit line. See medications to help you quit. Follow a Heart Healthy Diet Heart-healthy foods include those high in fiber, such as oat bran, oatmeal, whole-grain breads and cereals, fruits, and vegetables. You can also maintain a heart-healthy diet by limiting foods that are high in saturated fat, trans-fat, and cholesterol, such as meats, butter, dairy products with fat, eggs, shortening, lard, and foods with palm oil or coconut oil. For more on healthy eating, see Eating Well As You Get Older. Limit the Amount of Alcohol You Drink In general, healthy men and women over age 65 should not drink more than three drinks a day or a total of seven drinks a week. Learn how alcohol affects you as get older. Limit the Amount of Sodium Sodium contributes to high blood pressure and fluid retention. Older adults should limit their intake of sodium to1,500 milligrams daily (about 2/3 tsp. of salt). See ways to cut back on your salt intake. Get Regular Exericse Studies show that people with heart disease, diabetes, and high blood pressure benefit from regular exercise. In fact, inactive people are nearly twice as likely to develop heart disease as those who are more active. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information on exercise and older adults, see Benefits of Exercise or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.",NIHSeniorHealth,Heart Failure +What are the symptoms of Heart Failure ?,"Common Symptoms The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling usually occurs in the ankles, feet, legs, and sometimes in the abdomen. Swelling is caused by fluid buildup in the body. The fluid buildup can lead to weight gain as well as a cough. The cough can be worse at night and when lying down. When symptoms first begin, you might feel tired or short of breath after routine physical activities, such as climbing stairs. As heart failure progresses, the symptoms get worse. You may feel tired or short of breath after performing simple activities, like getting dressed.",NIHSeniorHealth,Heart Failure +How to diagnose Heart Failure ?,"Diagnosing Heart Failure There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. The tests will identify whether you have any diseases or conditions that can cause heart failure. They will also rule out any other causes of your symptoms and determine the amount of damage to your heart. During a physical examination, you can expect your doctor to listen to your heart for abnormal sounds and listen to your lungs for a buildup of fluid. Your doctor will also look for swelling in your ankles, feet, legs, abdomen, and in the veins in your neck If your doctor determines that you have signs of heart failure, he or she may order several tests. Diagnostic Tests Tests that are given to determine heart failure include an electrocardiogram (EKG or ECG), a chest x-ray, and a BNP blood test. An EKG or ECG -- electrocardiogram -- measures the rate and regularity of your heartbeat. This test can also show if you have had a heart attack and whether the walls of your heart have thickened. A chest X-ray takes a picture of your heart and lungs. It will show whether your heart is enlarged or your lungs have fluid in them, both signs of heart failure. A BNP blood test measures the level of a hormone in your blood called BNP -- brain natriuretic peptide -- that increases in heart failure. Once these initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in the diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. Other Tests Tests that can identify the cause of heart failure include an echocardiogram, a Holter monitor, and an exercise stress test. An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity.",NIHSeniorHealth,Heart Failure +What are the treatments for Heart Failure ?,"There is no cure for heart failure, but it can be controlled by treating the underlying conditions that cause it. Treatment for heart failure will depend on the type and stage of heart failure (the severity of the condition). The goals for treatment of all stages of heart failure are to reduce symptoms, treat the cause (such as heart disease, high blood pressure, or diabetes), stop the disease from worsening, and prolong life. Treatments for Heart Failure Treatments for heart failure include - lifestyle changes - medications - specialized care for those who are in the advanced stages. lifestyle changes medications specialized care for those who are in the advanced stages. Treatment for heart failure will reduce the chances that you will have to go to the hospital and make it easier for you to do the things you like to do. It is very important that you follow your treatment plan by keeping doctor appointments, taking medications, and making lifestyle changes.",NIHSeniorHealth,Heart Failure +What is (are) Heart Failure ?,"In heart failure, the heart cannot pump enough blood through the body. Heart failure develops over time as the pumping action of the heart gets weaker. Heart failure does not mean that the heart has stopped working or is about to stop working. When the heart is weakened by heart failure, blood and fluid can back up into the lungs and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath.",NIHSeniorHealth,Heart Failure +What causes Heart Failure ?,"Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure.",NIHSeniorHealth,Heart Failure +What are the symptoms of Heart Failure ?,"The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling is caused by fluid build-up in the body. Fluid buildup can lead to weight gain and frequent urination, as well as coughing.",NIHSeniorHealth,Heart Failure +How many people are affected by Heart Failure ?,"Approximately 5 million people in the United States have heart failure. It contributes to 300,000 deaths each year. It is the number one cause of hospitalizations for people over the age of 65.",NIHSeniorHealth,Heart Failure +Who is at risk for Heart Failure? ?,"Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.",NIHSeniorHealth,Heart Failure +How to prevent Heart Failure ?,"Ways to prevent heart failure include - keeping your cholesterol and blood pressure levels healthy - keeping diabetes in check - maintaining a healthy weight - quitting smoking - following a heart healthy diet - limiting the amount of alcohol you drink - eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). - getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging. keeping your cholesterol and blood pressure levels healthy keeping diabetes in check maintaining a healthy weight quitting smoking following a heart healthy diet limiting the amount of alcohol you drink eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.",NIHSeniorHealth,Heart Failure +What is (are) Heart Failure ?,"Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or ""bad,"" cholesterol depends on how many other risk factors you have. Here are recommended LDL cholesterol goals. - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. - If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. - If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. The goal for HDL, or ""good,"" cholesterol is above 40 in men and above 50 in women. The goal for triglycerides, another fat in the blood, is below 150.",NIHSeniorHealth,Heart Failure +How to diagnose Heart Failure ?,"There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. During a physical exam, a doctor will listen for abnormal heart sounds and lung sounds that indicate fluid buildup, as well as look for signs of swelling. If there are signs of heart failure, the doctor may order several tests, including: - an EKG, or electrocardiogram, to measure the rate and regularity of the heartbeat - a chest X-ray to evaluate the heart and lungs - a BNP blood test to measure the level of a hormone called BNP that increases when heart failure is present. an EKG, or electrocardiogram, to measure the rate and regularity of the heartbeat a chest X-ray to evaluate the heart and lungs a BNP blood test to measure the level of a hormone called BNP that increases when heart failure is present.",NIHSeniorHealth,Heart Failure +How to diagnose Heart Failure ?,"Once initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. There are several tests that can identify the cause of heart failure. These tests include: - An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. - A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. - An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity. An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity.",NIHSeniorHealth,Heart Failure +What are the treatments for Heart Failure ?,Treatment for heart failure includes lifestyle changes medications specialized care for those in advanced stages of the disease.,NIHSeniorHealth,Heart Failure +What are the treatments for Heart Failure ?,Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking engaging in physical activity.,NIHSeniorHealth,Heart Failure +What are the treatments for Heart Failure ?,"Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. Digoxin affects the hormones that worsen heart failure.",NIHSeniorHealth,Heart Failure +What are the treatments for Heart Failure ?,"For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant.",NIHSeniorHealth,Heart Failure +What is (are) Heart Failure ?,More detailed information on heart failure is available at http://www.nhlbi.nih.gov/health/dci,NIHSeniorHealth,Heart Failure +What is (are) Breast Cancer ?,"Key Points + - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Sometimes breast cancer occurs in women who are pregnant or have just given birth. - Signs of breast cancer include a lump or change in the breast. - It may be difficult to detect (find) breast cancer early in pregnant or nursing women. - Breast exams should be part of prenatal and postnatal care. - Tests that examine the breasts are used to detect (find) and diagnose breast cancer. - If cancer is found, tests are done to study the cancer cells. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. + The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes. Each lobe has many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels carry lymph between lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter substances in lymph and help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. + + + It may be difficult to detect (find) breast cancer early in pregnant or nursing women. + The breasts usually get larger, tender, or lumpy in women who are pregnant, nursing, or have just given birth. This occurs because of normal hormone changes that take place during pregnancy. These changes can make small lumps difficult to detect. The breasts may also become denser. It is more difficult to detect breast cancer in women with dense breasts using mammography. Because these breast changes can delay diagnosis, breast cancer is often found at a later stage in these women. + + + Other Information About Pregnancy and Breast Cancer + + + Key Points + - Lactation (breast milk production) and breast-feeding should be stopped if surgery or chemotherapy is planned. - Breast cancer does not appear to harm the unborn baby. - Pregnancy does not seem to affect the survival of women who have had breast cancer in the past. + + + Lactation (breast milk production) and breast-feeding should be stopped if surgery or chemotherapy is planned. + If surgery is planned, breast-feeding should be stopped to reduce blood flow in the breasts and make them smaller. Breast-feeding should also be stopped if chemotherapy is planned. Many anticancer drugs, especially cyclophosphamide and methotrexate, may occur in high levels in breast milk and may harm the nursing baby. Women receiving chemotherapy should not breast-feed. Stopping lactation does not improve the mother's prognosis. + + + Breast cancer does not appear to harm the unborn baby. + Breast cancer cells do not seem to pass from the mother to the unborn baby. + + + Pregnancy does not seem to affect the survival of women who have had breast cancer in the past. + For women who have had breast cancer, pregnancy does not seem to affect their survival. However, some doctors recommend that a woman wait 2 years after treatment for breast cancer before trying to have a baby, so that any early return of the cancer would be detected. This may affect a womans decision to become pregnant. The unborn baby does not seem to be affected if the mother has had breast cancer.",CancerGov,Breast Cancer +Who is at risk for Breast Cancer? ?,"Sometimes breast cancer occurs in women who are pregnant or have just given birth. Breast cancer occurs about once in every 3,000 pregnancies. It occurs most often between the ages of 32 and 38.",CancerGov,Breast Cancer +What are the symptoms of Breast Cancer ?,"Signs of breast cancer include a lump or change in the breast. + These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the size or shape of the breast. - A dimple or puckering in the skin of the breast. - A nipple turned inward into the breast. - Fluid, other than breast milk, from the nipple, especially if it's bloody. - Scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple). - Dimples in the breast that look like the skin of an orange, called peau dorange. + + + It may be difficult to detect (find) breast cancer early in pregnant or nursing women. + The breasts usually get larger, tender, or lumpy in women who are pregnant, nursing, or have just given birth. This occurs because of normal hormone changes that take place during pregnancy. These changes can make small lumps difficult to detect. The breasts may also become denser. It is more difficult to detect breast cancer in women with dense breasts using mammography. Because these breast changes can delay diagnosis, breast cancer is often found at a later stage in these women.",CancerGov,Breast Cancer +How to diagnose Breast Cancer ?,"Breast exams should be part of prenatal and postnatal care. + To detect breast cancer, pregnant and nursing women should examine their breasts themselves. Women should also receive clinical breast exams during their regular prenatal and postnatal check-ups. Talk to your doctor if you notice any changes in your breasts that you do not expect or that worry you. + + + Tests that examine the breasts are used to detect (find) and diagnose breast cancer. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Clinical breast exam (CBE): An exam of the breast by a doctor or other health professional. The doctor will carefully feel the breasts and under the arms for lumps or anything else that seems unusual. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of both breasts. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to look at later. - Mammogram : An x-ray of the breast. A mammogram can be done with little risk to the unborn baby. Mammograms in pregnant women may appear negative even though cancer is present. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If a lump in the breast is found, a biopsy may be done. There are four types of breast biopsies: - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or a sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid, using a thin needle. + + + If cancer is found, tests are done to study the cancer cells. + Decisions about the best treatment are based on the results of these tests and the age of the unborn baby. The tests give information about: - How quickly the cancer may grow. - How likely it is that the cancer will spread to other parts of the body. - How well certain treatments might work. - How likely the cancer is to recur (come back). Tests may include the following: - Estrogen and progesterone receptor test : A test to measure the amount of estrogen and progesterone (hormones) receptors in cancer tissue. If there are more estrogen and progesterone receptors than normal, the cancer is called estrogen and/or progesterone receptor positive. This type of breast cancer may grow more quickly. The test results show whether treatment to block estrogen and progesterone given after the baby is born may stop the cancer from growing. - Human epidermal growth factor type 2 receptor (HER2/neu) test : A laboratory test to measure how many HER2/neu genes there are and how much HER2/neu protein is made in a sample of tissue. If there are more HER2/neu genes or higher levels of HER2/neu protein than normal, the cancer is called HER2/neu positive. This type of breast cancer may grow more quickly and is more likely to spread to other parts of the body. The cancer may be treated with drugs that target the HER2/neu protein, such as trastuzumab and pertuzumab, after the baby is born. - Multigene tests: Tests in which samples of tissue are studied to look at the activity of many genes at the same time. These tests may help predict whether cancer will spread to other parts of the body or recur (come back). - Oncotype DX : This test helps predict whether stage I or stage II breast cancer that is estrogen receptor positive and node-negative will spread to other parts of the body. If the risk of the cancer spreading is high, chemotherapy may be given to lower the risk. - MammaPrint : This test helps predict whether stage I or stage II breast cancer that is node-negative will spread to other parts of the body. If the risk of the cancer spreading is high, chemotherapy may be given to lower the risk.",CancerGov,Breast Cancer +What is the outlook for Breast Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to other parts of the body). - The type of breast cancer. - The age of the unborn baby. - Whether there are signs or symptoms. - The patients general health.,CancerGov,Breast Cancer +What are the stages of Breast Cancer ?,"Key Points + - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV + + + After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. + The process used to find out if the cancer has spread within the breast or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some procedures may expose the unborn baby to harmful radiation or dyes. These procedures are done only if absolutely necessary. Certain actions can be taken to expose the unborn baby to as little radiation as possible, such as the use of a lead-lined shield to cover the abdomen. The following tests and procedures may be used to stage breast cancer during pregnancy: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in bones with cancer and is detected by a scanner. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the liver, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer. + + + The following stages are used for breast cancer: + This section describes the stages of breast cancer. The breast cancer stage is based on the results of testing that is done on the tumor and lymph nodes removed during surgery and other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition seldom becomes invasive cancer. However, having LCIS in one breast increases the risk of developing breast cancer in either breast. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA: - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to: - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. For treatment, stage IIIC breast cancer is divided into operable and inoperable stage IIIC. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain.",CancerGov,Breast Cancer +What are the treatments for Breast Cancer ?,"Key Points + - Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Ending the pregnancy does not seem to improve the mothers chance of survival. - Treatment for breast cancer may cause side effects. + + + Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. + + + + Three types of standard treatment are used: + Surgery Most pregnant women with breast cancer have surgery to remove the breast. Some of the lymph nodes under the arm may be removed and checked under a microscope for signs of cancer. Types of surgery to remove the cancer include: - Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. This type of surgery is most common in pregnant women. - Breast-conserving surgery: Surgery to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery. Even if the doctor removes all of the cancer that can be seen at the time of surgery, the patient may be given radiation therapy or chemotherapy after surgery to try to kill any cancer cells that may be left. For pregnant women with early-stage breast cancer, radiation therapy and hormone therapy are given after the baby is born. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is not given to pregnant women with early stage (stage I or II) breast cancer because it can harm the unborn baby. For women with late stage (stage III or IV) breast cancer, radiation therapy is not given during the first 3 months of pregnancy and is delayed until after the baby is born, if possible. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy is usually not given during the first 3 months of pregnancy. Chemotherapy given after this time does not usually harm the unborn baby but may cause early labor and low birth weight. See Drugs Approved for Breast Cancer for more information. + + + Ending the pregnancy does not seem to improve the mothers chance of survival. + Because ending the pregnancy is not likely to improve the mothers chance of survival, it is not usually a treatment option. + + + Treatment for breast cancer may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Treatment Options by Stage + + + Early Stage Breast Cancer (Stage I and Stage II) + Treatment of early-stage breast cancer (stage I and stage II) may include the following: - Modified radical mastectomy. - Breast-conserving surgery followed by radiation therapy. In pregnant women, radiation therapy is delayed until after the baby is born. - Modified radical mastectomy or breast-conserving surgery during pregnancy followed by chemotherapy after the first 3 months of pregnancy. + + + Late Stage Breast Cancer (Stage III and Stage IV) + Treatment of late-stage breast cancer (stage III and stage IV) may include the following: - Radiation therapy. - Chemotherapy. Radiation therapy and chemotherapy should not be given during the first 3 months of pregnancy.",CancerGov,Breast Cancer +What is (are) Hairy Cell Leukemia ?,"Key Points + - Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Gender and age may affect the risk of hairy cell leukemia. - Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. - Certain factors affect treatment options and prognosis (chance of recovery). + + + Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). + Hairy cell leukemia is a cancer of the blood and bone marrow. This rare type of leukemia gets worse slowly or does not get worse at all. The disease is called hairy cell leukemia because the leukemia cells look ""hairy"" when viewed under a microscope. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. A lymphoid stem cell becomes a lymphoblast cell and then into one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make antibodies to help fight infection. - Natural killer cells that attack cancer cells and viruses. In hairy cell leukemia, too many blood stem cells become lymphocytes. These lymphocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. Some of the leukemia cells may collect in the spleen and cause it to swell. This summary is about hairy cell leukemia. See the following PDQ summaries for information about other types of leukemia: - Adult Acute Lymphoblastic Leukemia Treatment. - Childhood Acute Lymphoblastic Leukemia Treatment. - Chronic Lymphocytic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Myelogenous Leukemia Treatment.",CancerGov,Hairy Cell Leukemia +Who is at risk for Hairy Cell Leukemia? ?,Gender and age may affect the risk of hairy cell leukemia. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The cause of hairy cell leukemia is unknown. It occurs more often in older men.,CancerGov,Hairy Cell Leukemia +What are the symptoms of Hairy Cell Leukemia ?,"Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. These and other signs and symptoms may be caused by hairy cell leukemia or by other conditions. Check with your doctor if you have any of the following: - Weakness or feeling tired. - Fever or frequent infections. - Easy bruising or bleeding. - Shortness of breath. - Weight loss for no known reason. - Pain or a feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, or groin.",CancerGov,Hairy Cell Leukemia +How to diagnose Hairy Cell Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as a swollen spleen, lumps, or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for cells that look ""hairy,"" the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see what type of cell it is. This test is done to diagnose the specific type of leukemia by comparing the cancer cells to normal cells of the immune system. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Gene mutation test: A laboratory test done on a bone marrow or blood sample to check for mutations in the BRAF gene. A BRAF gene mutation is often found in patients with hairy cell leukemia. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. A CT scan of the abdomen may be done to check for swollen lymph nodes or a swollen spleen.",CancerGov,Hairy Cell Leukemia +What is the outlook for Hairy Cell Leukemia ?,"Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following: - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow. - Whether the spleen is swollen. - Whether there are signs or symptoms of leukemia, such as infection. - Whether the leukemia has recurred (come back) after previous treatment. The prognosis (chance of recovery) depends on the following: - Whether the hairy cell leukemia does not grow or grows so slowly it does not need treatment. - Whether the hairy cell leukemia responds to treatment. Treatment often results in a long-lasting remission (a period during which some or all of the signs and symptoms of the leukemia are gone). If the leukemia returns after it has been in remission, retreatment often causes another remission.",CancerGov,Hairy Cell Leukemia +What are the stages of Hairy Cell Leukemia ?,"Key Points + - There is no standard staging system for hairy cell leukemia. + + + There is no standard staging system for hairy cell leukemia. + Staging is the process used to find out how far the cancer has spread. Groups are used in place of stages for hairy cell leukemia. The disease is grouped as untreated, progressive, or refractory. Untreated hairy cell leukemia The hairy cell leukemia is newly diagnosed and has not been treated except to relieve signs or symptoms such as weight loss and infections. In untreated hairy cell leukemia, some or all of the following conditions occur: - Hairy (leukemia) cells are found in the blood and bone marrow. - The number of red blood cells, white blood cells, or platelets may be lower than normal. - The spleen may be larger than normal. Progressive hairy cell leukemia In progressive hairy cell leukemia, the leukemia has been treated with either chemotherapy or splenectomy (removal of the spleen) and one or both of the following conditions occur: - There is an increase in the number of hairy cells in the blood or bone marrow. - The number of red blood cells, white blood cells, or platelets in the blood is lower than normal.",CancerGov,Hairy Cell Leukemia +what research (or clinical trials) is being done for Hairy Cell Leukemia ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Hairy Cell Leukemia +What are the treatments for Hairy Cell Leukemia ?,"Key Points + - There are different types of treatment for patients with hairy cell leukemia. - Five types of standard treatment are used: - Watchful waiting - Chemotherapy - Biologic therapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with hairy cell leukemia. + Different types of treatment are available for patients with hairy cell leukemia. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Watchful waiting Watchful waiting is closely monitoring a patient's condition, without giving any treatment until signs or symptoms appear or change. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Cladribine and pentostatin are anticancer drugs commonly used to treat hairy cell leukemia. These drugs may increase the risk of other types of cancer, especially Hodgkin lymphoma and non-Hodgkin lymphoma. Long-term follow up for second cancers is very important. Biologic therapy Biologic therapy is a cancer treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent commonly used to treat hairy cell leukemia. See Drugs Approved for Hairy Cell Leukemia for more information. Surgery Splenectomy is a surgical procedure to remove the spleen. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used to treat hairy cell leukemia. Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. A monoclonal antibody called rituximab may be used for certain patients with hairy cell leukemia. Other types of targeted therapies are being studied. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Hairy Cell Leukemia + + + Untreated Hairy Cell Leukemia + If the patient's blood cell counts are not too low and there are no signs or symptoms, treatment may not be needed and the patient is carefully watched for changes in his or her condition. If blood cell counts become too low or if signs or symptoms appear, initial treatment may include the following: - Chemotherapy. - Splenectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Progressive Hairy Cell Leukemia + Treatment for progressive hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Splenectomy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with progressive hairy cell leukemia, initial treatment. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Relapsed or Refractory Hairy Cell Leukemia + Treatment of relapsed or refractory hairy cell leukemia may include the following: - Chemotherapy. - Biologic therapy. - Targeted therapy with a monoclonal antibody (rituximab). - High-dose chemotherapy. - A clinical trial of a new biologic therapy. - A clinical trial of a new targeted therapy. - A clinical trial of chemotherapy and targeted therapy with a monoclonal antibody (rituximab). Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory hairy cell leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Hairy Cell Leukemia +What is (are) Vulvar Cancer ?,"Key Points + - Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva. - Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer. - Signs of vulvar cancer include bleeding or itching. - Tests that examine the vulva are used to detect (find) and diagnose vulvar cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva. + Vulvar cancer forms in a woman's external genitalia. The vulva includes: - Inner and outer lips of the vagina. - Clitoris (sensitive tissue between the lips). - Opening of the vagina and its glands. - Mons pubis (the rounded area in front of the pubic bones that becomes covered with hair at puberty). - Perineum (the area between the vulva and the anus). Vulvar cancer most often affects the outer vaginal lips. Less often, cancer affects the inner vaginal lips, clitoris, or vaginal glands. Vulvar cancer usually forms slowly over a number of years. Abnormal cells can grow on the surface of the vulvar skin for a long time. This condition is called vulvar intraepithelial neoplasia (VIN). Because it is possible for VIN to become vulvar cancer, it is very important to get treatment. + + + Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer. + Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for vulvar cancer include the following: - Having vulvar intraepithelial neoplasia (VIN). - Having human papillomavirus (HPV) infection. - Having a history of genital warts. Other possible risk factors include the following: - Having many sexual partners. - Having first sexual intercourse at a young age. - Having a history of abnormal Pap tests (Pap smears). + + + Recurrent Vulvar Cancer + Recurrent vulvar cancer is cancer that has recurred (come back) after it has been treated. The cancer may come back in the vulva or in other parts of the body.",CancerGov,Vulvar Cancer +What are the symptoms of Vulvar Cancer ?,"Signs of vulvar cancer include bleeding or itching. Vulvar cancer often does not cause early signs or symptoms. Signs and symptoms may be caused by vulvar cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or growth on the vulva. - Changes in the vulvar skin, such as color changes or growths that look like a wart or ulcer. - Itching in the vulvar area, that does not go away. - Bleeding not related to menstruation (periods). - Tenderness in the vulvar area.",CancerGov,Vulvar Cancer +How to diagnose Vulvar Cancer ?,"Tests that examine the vulva are used to detect (find) and diagnose vulvar cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the vulva for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of samples of cells or tissues from the vulva so they can be viewed under a microscope by a pathologist to check for signs of cancer.",CancerGov,Vulvar Cancer +What is the outlook for Vulvar Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Vulvar Cancer +What are the stages of Vulvar Cancer ?,"Key Points + - After vulvar cancer has been diagnosed, tests are done to find out if cancer cells have spread within the vulva or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - In vulvar intraepithelial neoplasia (VIN), abnormal cells are found on the surface of the vulvar skin. - The following stages are used for vulvar cancer: - Stage I - Stage II - Stage III - Stage IV + + + After vulvar cancer has been diagnosed, tests are done to find out if cancer cells have spread within the vulva or to other parts of the body. + The process used to find out if cancer has spread within the vulva or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Colposcopy : A procedure in which a colposcope (a lighted, magnifying instrument) is used to check the vagina and cervix for abnormal areas. Tissue samples may be taken using a curette (spoon-shaped instrument) or a brush and checked under a microscope for signs of disease. - Cystoscopy : A procedure to look inside the bladder and urethra to check for abnormal areas. A cystoscope is inserted through the urethra into the bladder. A cystoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Proctoscopy : A procedure to look inside the rectum and anus to check for abnormal areas. A proctoscope is inserted into the anus and rectum. A proctoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - X-rays : An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. To stage vulvar cancer, x-rays may be taken of the organs and bones inside the chest, and the pelvic bones. - Intravenous pyelogram (IVP): A series of x-rays of the kidneys, ureters, and bladder to find out if cancer has spread to these organs. A contrast dye is injected into a vein. As the contrast dye moves through the kidneys, ureters and bladder, x-rays are taken to see if there are any blockages. This procedure is also called intravenous urography. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. Sentinel lymph node biopsy may be done during surgery to remove the tumor for early-stage vulvar cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if vulvar cancer spreads to the lung, the cancer cells in the lung are actually vulvar cancer cells. The disease is metastatic vulvar cancer, not lung cancer. + + + In vulvar intraepithelial neoplasia (VIN), abnormal cells are found on the surface of the vulvar skin. + These abnormal cells are not cancer. Vulvar intraepithelial neoplasia (VIN) may become cancer and spread into nearby tissue. VIN is sometimes called stage 0 or carcinoma in situ. + + + The following stages are used for vulvar cancer: + Stage I In stage I, cancer has formed. The tumor is found only in the vulva or perineum (area between the rectum and the vagina). Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller and has spread 1 millimeter or less into the tissue of the vulva. Cancer has not spread to the lymph nodes. - In stage IB, the tumor is larger than 2 centimeters or has spread more than 1 millimeter into the tissue of the vulva. Cancer has not spread to the lymph nodes. Stage II In stage II, the tumor is any size and has spread into the lower part of the urethra, the lower part of the vagina, or the anus. Cancer has not spread to the lymph nodes. Stage III In stage III, the tumor is any size and may have spread into the lower part of the urethra, the lower part of the vagina, or the anus. Cancer has spread to one or more nearby lymph nodes. Stage III is divided into stages IIIA, IIIB, and IIIC. - In stage IIIA, cancer is found in 1 or 2 lymph nodes that are smaller than 5 millimeters or in one lymph node that is 5 millimeters or larger. - In stage IIIB, cancer is found in 2 or more lymph nodes that are 5 millimeters or larger, or in 3 or more lymph nodes that are smaller than 5 millimeters. - In stage IIIC, cancer is found in lymph nodes and has spread to the outside surface of the lymph nodes. Stage IV In stage IV, the tumor has spread into the upper part of the urethra, the upper part of the vagina, or to other parts of the body. Stage IV is divided into stages IVA and IVB. - In stage IVA: - cancer has spread into the lining of the upper urethra, the upper vagina, the bladder, or the rectum, or has attached to the pelvic bone; or - cancer has spread to nearby lymph nodes and the lymph nodes are not moveable or have formed an ulcer. - In stage IVB, cancer has spread to lymph nodes in the pelvis or to other parts of the body.",CancerGov,Vulvar Cancer +what research (or clinical trials) is being done for Vulvar Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Vulvar Cancer +What are the treatments for Vulvar Cancer ?,"Key Points + - There are different types of treatment for patients with vulvar cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with vulvar cancer. + Different types of treatments are available for patients with vulvar cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery is the most common treatment for vulvar cancer. The goal of surgery is to remove all the cancer without any loss of the woman's sexual function. One of the following types of surgery may be done: - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor. - Wide local excision: A surgical procedure to remove the cancer and some of the normal tissue around the cancer. - Radical local excision: A surgical procedure to remove the cancer and a large amount of normal tissue around it. Nearby lymph nodes in the groin may also be removed. - Ultrasound surgical aspiration (USA): A surgical procedure to break the tumor up into small pieces using very fine vibrations. The small pieces of tumor are washed away and removed by suction. This procedure causes less damage to nearby tissue. - Vulvectomy: A surgical procedure to remove part or all of the vulva: - Skinning vulvectomy: The top layer of vulvar skin where the cancer is found is removed. Skin grafts from other parts of the body may be needed to cover the area where the skin was removed. - Modified radical vulvectomy: Surgery to remove part of the vulva. Nearby lymph nodes may also be removed. - Radical vulvectomy: Surgery to remove the entire vulva. Nearby lymph nodes are also removed. - Pelvic exenteration: A surgical procedure to remove the lower colon, rectum, and bladder. The cervix, vagina, ovaries, and nearby lymph nodes are also removed. Artificial openings (stoma) are made for urine and stool to flow from the body into a collection bag. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may have chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat vulvar cancer, and external radiation therapy may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, a body cavity such as the abdomen, or onto the skin, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Topical chemotherapy for vulvar cancer may be applied to the skin in a cream or lotion. See Drugs Approved to Treat Vulvar Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Imiquimod is a biologic therapy that may be used to treat vulvar lesions and is applied to the skin in a cream. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. It is important to have regular follow-up exams to check for recurrent vulvar cancer. + + + Treatment Options by Stage + Vulvar Intraepithelial Neoplasia (VIN): Treatment of vulvar intraepithelial neoplasia (VIN) may include the following: - Removal of single lesions or wide local excision. - Laser surgery. - Ultrasound surgical aspiration. - Skinning vulvectomy with or without a skin graft. - Biologic therapy with topical imiquimod. + - Stage I Vulvar Cancer: Treatment of stage I vulvar cancer may include the following: - Wide local excision for lesions that are less than 1 millimeter deep.. - Radical local excision and removal of nearby lymph nodes. - Radical local excision and sentinel lymph node biopsy. If cancer is found in the sentinel lymph node, nearby lymph nodes are also removed. - Radiation therapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + - Stage II Vulvar Cancer: Treatment of stage II vulvar cancer may include the following: - Radical local excision and removal of nearby lymph nodes. - Modified radical vulvectomy or radical vulvectomy for large tumors. Nearby lymph nodes may be removed. Radiation therapy may be given after surgery. - Radical local excision and sentinel lymph node biopsy. If cancer is found in the sentinel lymph node, nearby lymph nodes are also removed. - Radiation therapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + - Stage III Vulvar Cancer: Treatment of stage III vulvar cancer may include the following: - Modified radical vulvectomy or radical vulvectomy. Nearby lymph nodes may be removed. Radiation therapy may be given after surgery. - Radiation therapy or chemotherapy and radiation therapy followed by surgery. - Radiation therapy with or without chemotherapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + - Stage IV Vulvar Cancer: Treatment of stage IVA vulvar cancer may include the following: - Radical vulvectomy and pelvic exenteration. - Radical vulvectomy followed by radiation therapy. - Radiation therapy or chemotherapy and radiation therapy followed by surgery. - Radiation therapy with or without chemotherapy for patients who cannot have surgery. There is no standard treatment for stage IVB vulvar cancer. Treatment may include a clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IVB vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + + Treatment Options for Recurrent Vulvar Cancer + Treatment of recurrent vulvar cancer may include the following: - Wide local excision with or without radiation therapy to treat cancer that has come back in the same area. + - Radical vulvectomy and pelvic exenteration to treat cancer that has come back in the same area. + - Chemotherapy and radiation therapy with or without surgery. + - Radiation therapy followed by surgery or chemotherapy. + - Radiation therapy as palliative treatment to relieve symptoms and improve quality of life. + - A clinical trial of a new treatment. + Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Vulvar Cancer +What is (are) Gallbladder Cancer ?,"Key Points + - Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. - Being female can increase the risk of developing gallbladder cancer. - Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. - Gallbladder cancer is difficult to detect (find) and diagnose early. - Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. - Certain factors affect the prognosis (chance of recovery) and treatment options. + + + Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. + Gallbladder cancer is a rare disease in which malignant (cancer) cells are found in the tissues of the gallbladder. The gallbladder is a pear-shaped organ that lies just under the liver in the upper abdomen. The gallbladder stores bile, a fluid made by the liver to digest fat. When food is being broken down in the stomach and intestines, bile is released from the gallbladder through a tube called the common bile duct, which connects the gallbladder and liver to the first part of the small intestine. The wall of the gallbladder has 3 main layers of tissue. - Mucosal (inner) layer. - Muscularis (middle, muscle) layer. - Serosal (outer) layer. Between these layers is supporting connective tissue. Primary gallbladder cancer starts in the inner layer and spreads through the outer layers as it grows. + + + Gallbladder cancer is difficult to detect (find) and diagnose early. + Gallbladder cancer is difficult to detect and diagnose for the following reasons: - There are no signs or symptoms in the early stages of gallbladder cancer. - The symptoms of gallbladder cancer, when present, are like the symptoms of many other illnesses. - The gallbladder is hidden behind the liver. Gallbladder cancer is sometimes found when the gallbladder is removed for other reasons. Patients with gallstones rarely develop gallbladder cancer.",CancerGov,Gallbladder Cancer +Who is at risk for Gallbladder Cancer? ?,Being female can increase the risk of developing gallbladder cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for gallbladder cancer include the following: - Being female. - Being Native American.,CancerGov,Gallbladder Cancer +What are the symptoms of Gallbladder Cancer ?,"Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. These and other signs and symptoms may be caused by gallbladder cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). - Pain above the stomach. - Fever. - Nausea and vomiting. - Bloating. - Lumps in the abdomen.",CancerGov,Gallbladder Cancer +How to diagnose Gallbladder Cancer ?,"Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer. Procedures that make pictures of the gallbladder and the area around it help diagnose gallbladder cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the gallbladder is called staging. In order to plan treatment, it is important to know if the gallbladder cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage gallbladder cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver disease that may be caused by gallbladder cancer. - Carcinoembryonic antigen (CEA) assay : A test that measures the level of CEA in the blood. CEA is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions. - CA 19-9 assay : A test that measures the level of CA 19-9 in the blood. CA 19-9 is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of gallbladder cancer or other conditions. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An abdominal ultrasound is done to diagnose gallbladder cancer. - PTC (percutaneous transhepatic cholangiography): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If a blockage is found, a thin, flexible tube called a stent is sometimes left in the liver to drain bile into the small intestine or a collection bag outside the body. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - ERCP (endoscopic retrograde cholangiopancreatography): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes gallbladder cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope (a thin, lighted tube) is passed through the mouth, esophagus, and stomach into the first part of the small intestine. A catheter (a smaller tube) is then inserted through the endoscope into the bile ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as removing organs or taking tissue samples for biopsy. The laparoscopy helps to find out if the cancer is within the gallbladder only or has spread to nearby tissues and if it can be removed by surgery. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The biopsy may be done after surgery to remove the tumor. If the tumor clearly cannot be removed by surgery, the biopsy may be done using a fine needle to remove cells from the tumor.",CancerGov,Gallbladder Cancer +What is the outlook for Gallbladder Cancer ?,"Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer has spread from the gallbladder to other places in the body). - Whether the cancer can be completely removed by surgery. - The type of gallbladder cancer (how the cancer cell looks under a microscope). - Whether the cancer has just been diagnosed or has recurred (come back). Treatment may also depend on the age and general health of the patient and whether the cancer is causing signs or symptoms. Gallbladder cancer can be cured only if it is found before it has spread, when it can be removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease. Taking part in one of the clinical trials being done to improve treatment should be considered. Information about ongoing clinical trials is available from the NCI website.",CancerGov,Gallbladder Cancer +What are the stages of Gallbladder Cancer ?,"Key Points + - Tests and procedures to stage gallbladder cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for gallbladder cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IVA - Stage IVB - For gallbladder cancer, stages are also grouped according to how the cancer may be treated. There are two treatment groups: - Localized (Stage I) - Unresectable, recurrent, or metastatic (Stage II, Stage III, and Stage IV) + + + Tests and procedures to stage gallbladder cancer are usually done at the same time as diagnosis. + See the General Information section for a description of tests and procedures used to detect, diagnose, and stage gallbladder cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if gallbladder cancer spreads to the liver, the cancer cells in the liver are actually gallbladder cancer cells. The disease is metastatic gallbladder cancer, not liver cancer. + + + The following stages are used for gallbladder cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the inner (mucosal) layer of the gallbladder. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and has spread beyond the inner (mucosal) layer to a layer of tissue with blood vessels or to the muscle layer. Stage II In stage II, cancer has spread beyond the muscle layer to the connective tissue around the muscle. Stage IIIA In stage IIIA, cancer has spread through the thin layers of tissue that cover the gallbladder and/or to the liver and/or to one nearby organ (such as the stomach, small intestine, colon, pancreas, or bile ducts outside the liver). Stage IIIB In stage IIIB, cancer has spread to nearby lymph nodes and: - beyond the inner layer of the gallbladder to a layer of tissue with blood vessels or to the muscle layer; or - beyond the muscle layer to the connective tissue around the muscle; or - through the thin layers of tissue that cover the gallbladder and/or to the liver and/or to one nearby organ (such as the stomach, small intestine, colon, pancreas, or bile ducts outside the liver). Stage IVA In stage IVA, cancer has spread to a main blood vessel of the liver or to 2 or more nearby organs or areas other than the liver. Cancer may have spread to nearby lymph nodes. Stage IVB In stage IVB, cancer has spread to either: - lymph nodes along large arteries in the abdomen and/or near the lower part of the backbone; or - to organs or areas far away from the gallbladder. + + + For gallbladder cancer, stages are also grouped according to how the cancer may be treated. There are two treatment groups: + Localized (Stage I) Cancer is found in the wall of the gallbladder and can be completely removed by surgery. Unresectable, recurrent, or metastatic (Stage II, Stage III, and Stage IV) Unresectable cancer cannot be removed completely by surgery. Most patients with gallbladder cancer have unresectable cancer. Recurrent cancer is cancer that has recurred (come back) after it has been treated. Gallbladder cancer may come back in the gallbladder or in other parts of the body. Metastasis is the spread of cancer from the primary site (place where it started) to other places in the body. Metastatic gallbladder cancer may spread to surrounding tissues, organs, throughout the abdominal cavity, or to distant parts of the body.",CancerGov,Gallbladder Cancer +What are the treatments for Gallbladder Cancer ?,"Key Points + - There are different types of treatment for patients with gallbladder cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Radiation sensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with gallbladder cancer. + Different types of treatments are available for patients with gallbladder cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery Gallbladder cancer may be treated with a cholecystectomy, surgery to remove the gallbladder and some of the tissues around it. Nearby lymph nodes may be removed. A laparoscope is sometimes used to guide gallbladder surgery. The laparoscope is attached to a video camera and inserted through an incision (port) in the abdomen. Surgical instruments are inserted through other ports to perform the surgery. Because there is a risk that gallbladder cancer cells may spread to these ports, tissue surrounding the port sites may also be removed. If the cancer has spread and cannot be removed, the following types of palliative surgery may relieve symptoms: - Surgical biliary bypass: If the tumor is blocking the small intestine and bile is building up in the gallbladder, a biliary bypass may be done. During this operation, the gallbladder or bile duct will be cut and sewn to the small intestine to create a new pathway around the blocked area. - Endoscopic stent placement: If the tumor is blocking the bile duct, surgery may be done to put in a stent (a thin, flexible tube) to drain bile that has built up in the area. The stent may be placed through a catheter that drains to the outside of the body or the stent may go around the blocked area and drain the bile into the small intestine. - Percutaneous transhepatic biliary drainage: A procedure done to drain bile when there is a blockage and endoscopic stent placement is not possible. An x-ray of the liver and bile ducts is done to locate the blockage. Images made by ultrasound are used to guide placement of a stent, which is left in the liver to drain bile into the small intestine or a collection bag outside the body. This procedure may be done to relieve jaundice before surgery. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat gallbladder cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation sensitizers Clinical trials are studying ways to improve the effect of radiation therapy on tumor cells, including the following: - Hyperthermia therapy: A treatment in which body tissue is exposed to high temperatures to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation therapy and certain anticancer drugs. - Radiosensitizers: Drugs that make tumor cells more sensitive to radiation therapy. Giving radiation therapy together with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Gallbladder Cancer + + + Localized Gallbladder Cancer + Treatment of localized gallbladder cancer may include the following: - Surgery to remove the gallbladder and some of the tissue around it. Part of the liver and nearby lymph nodes may also be removed. Radiation therapy with or without chemotherapy may follow surgery. - Radiation therapy with or without chemotherapy. - A clinical trial of radiation therapy with radiosensitizers. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gallbladder cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Unresectable, Recurrent, or Metastatic Gallbladder Cancer + Treatment of unresectable, recurrent, or metastatic gallbladder cancer is usually within a clinical trial. Treatment may include the following: - Percutaneous transhepatic biliary drainage or the placement of stents to relieve symptoms caused by blocked bile ducts. This may be followed by radiation therapy as palliative treatment. - Surgery as palliative treatment to relieve symptoms caused by blocked bile ducts. - Chemotherapy. - A clinical trial of new ways to give palliative radiation therapy, such as giving it together with hyperthermia therapy, radiosensitizers, or chemotherapy. - A clinical trial of new drugs and drug combinations. Check the list of NCI-supported cancer clinical trials that are now accepting patients with unresectable gallbladder cancer, recurrent gallbladder cancer and metastatic gallbladder cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Gallbladder Cancer +what research (or clinical trials) is being done for Gallbladder Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation sensitizers Clinical trials are studying ways to improve the effect of radiation therapy on tumor cells, including the following: - Hyperthermia therapy: A treatment in which body tissue is exposed to high temperatures to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation therapy and certain anticancer drugs. - Radiosensitizers: Drugs that make tumor cells more sensitive to radiation therapy. Giving radiation therapy together with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Gallbladder Cancer +What is (are) Atypical Chronic Myelogenous Leukemia ?,"Key Points + - Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. - Certain factors affect prognosis (chance of recovery). + + + Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow. + In atypical chronic myelogenous leukemia (CML), the body tells too many blood stem cells to become a type of white blood cell called granulocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the granulocytes and blasts crowd out the red blood cells and platelets in the bone marrow. The leukemia cells in atypical CML and CML look alike under a microscope. However, in atypical CML a certain chromosome change, called the ""Philadelphia chromosome"" is not there.",CancerGov,Atypical Chronic Myelogenous Leukemia +What are the symptoms of Atypical Chronic Myelogenous Leukemia ?,"Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. - Pale skin. - Feeling very tired and weak. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain or a feeling of fullness below the ribs on the left side.",CancerGov,Atypical Chronic Myelogenous Leukemia +What is the outlook for Atypical Chronic Myelogenous Leukemia ?,Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) for atypical CML depends on the number of red blood cells and platelets in the blood.,CancerGov,Atypical Chronic Myelogenous Leukemia +What are the treatments for Atypical Chronic Myelogenous Leukemia ?,"Treatment of atypical chronic myelogenous leukemia (CML) may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with atypical chronic myeloid leukemia, BCR-ABL1 negative. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Atypical Chronic Myelogenous Leukemia +What is (are) Myelodysplastic/ Myeloproliferative Neoplasms ?,"Key Points + - Myelodysplastic/myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many white blood cells. - Myelodysplastic/myeloproliferative neoplasms have features of both myelodysplastic syndromes and myeloproliferative neoplasms. - There are different types of myelodysplastic/myeloproliferative neoplasms. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic/myeloproliferative neoplasms. + + + Myelodysplastic/myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many white blood cells. + Myelodysplastic /myeloproliferative neoplasms are diseases of the blood and bone marrow. Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. + + + Myelodysplastic/myeloproliferative neoplasms have features of both myelodysplastic syndromes and myeloproliferative neoplasms. + In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets. The immature blood cells, called blasts, do not work the way they should and die in the bone marrow or soon after they enter the blood. As a result, there are fewer healthy red blood cells, white blood cells, and platelets. In myeloproliferative diseases, a greater than normal number of blood stem cells become one or more types of blood cells and the total number of blood cells slowly increases. This summary is about neoplasms that have features of both myelodysplastic and myeloproliferative diseases. See the following PDQ summaries for more information about related diseases: - Myelodysplastic Syndromes Treatment - Chronic Myeloproliferative Neoplasms Treatment - Chronic Myelogenous Leukemia Treatment + + + There are different types of myelodysplastic/myeloproliferative neoplasms. + The 3 main types of myelodysplastic/myeloproliferative neoplasms include the following: - Chronic myelomonocytic leukemia (CMML). - Juvenile myelomonocytic leukemia (JMML). - Atypical chronic myelogenous leukemia (CML). When a myelodysplastic/myeloproliferative neoplasm does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Myelodysplastic/myeloproliferative neoplasms may progress to acute leukemia.",CancerGov,Myelodysplastic/ Myeloproliferative Neoplasms +How to diagnose Myelodysplastic/ Myeloproliferative Neoplasms ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic/myeloproliferative neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen and liver. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of a small piece of bone and bone marrow by inserting a needle into the hipbone or breastbone. A pathologist views both the bone and bone marrow samples under a microscope to look for abnormal cells. The following tests may be done on the sample of tissue that is removed: - Cytogenetic analysis : A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. The cancer cells in myelodysplastic/myeloproliferative neoplasms do not contain the Philadelphia chromosome that is present in chronic myelogenous leukemia. - Immunocytochemistry : A test that uses antibodies to check for certain antigens in a sample of bone marrow. The antibody is usually linked to a radioactive substance or a dye that causes the cells in the sample to light up under a microscope. This type of test is used to tell the difference between myelodysplastic/myeloproliferative neoplasms, leukemia, and other conditions.",CancerGov,Myelodysplastic/ Myeloproliferative Neoplasms +What are the stages of Myelodysplastic/ Myeloproliferative Neoplasms ?,"Key Points + - There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. + + + There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. + Staging is the process used to find out how far the cancer has spread. There is no standard staging system for myelodysplastic /myeloproliferative neoplasms. Treatment is based on the type of myelodysplastic/myeloproliferative neoplasm the patient has. It is important to know the type in order to plan treatment.",CancerGov,Myelodysplastic/ Myeloproliferative Neoplasms +What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasms ?,"Key Points + - There are different types of treatment for patients with myelodysplastic/myeloproliferative neoplasms. - Five types of standard treatment are used: - Chemotherapy - Other drug therapy - Stem cell transplant - Supportive care - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with myelodysplastic/myeloproliferative neoplasms. + Different types of treatments are available for patients with myelodysplastic /myeloproliferative neoplasms. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Combination chemotherapy is treatment using more than one anticancer drug. See Drugs Approved for Myeloproliferative Neoplasms for more information. Other drug therapy 13-cis retinoic acid is a vitamin -like drug that slows the cancer's ability to make more cancer cells and changes the way these cells look and act. Stem cell transplant Stem cell transplant is a method of replacing blood -forming cells that are destroyed by chemotherapy. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include transfusion therapy or drug therapy, such as antibiotics to fight infection. Targeted therapy Targeted therapy is a cancer treatment that uses drugs or other substances to attack cancer cells without harming normal cells. Targeted therapy drugs called tyrosine kinase inhibitors (TKIs) are used to treat myelodysplastic/myeloproliferative neoplasm, unclassifiable. TKIs block the enzyme, tyrosine kinase, that causes stem cells to become more blood cells (blasts) than the body needs. Imatinib mesylate (Gleevec) is a TKI that may be used. Other targeted therapy drugs are being studied in the treatment of JMML. See Drugs Approved for Myeloproliferative Neoplasms for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Myelodysplastic/ Myeloproliferative Neoplasms + + + Chronic Myelomonocytic Leukemia + Treatment of chronic myelomonocytic leukemia (CMML) may include the following: - Chemotherapy with one or more agents. - Stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Juvenile Myelomonocytic Leukemia + Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Atypical Chronic Myelogenous Leukemia + Treatment of atypical chronic myelogenous leukemia (CML) may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with atypical chronic myeloid leukemia, BCR-ABL1 negative. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable + Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. - Targeted therapy (imatinib mesylate). Check the list of NCI-supported cancer clinical trials that are now accepting patients with myelodysplastic/myeloproliferative neoplasm, unclassifiable. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Myelodysplastic/ Myeloproliferative Neoplasms +What is (are) Skin Cancer ?,"Key Points + - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are several types of skin cancer. - Skin cancer is the most common cancer in the United States. + + + Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. + The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). The epidermis is made up of 3 kinds of cells: - Squamous cells are the thin, flat cells that make up most of the epidermis. - Basal cells are the round cells under the squamous cells. - Melanocytes are found throughout the lower part of the epidermis. They make melanin, the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment, causing the skin to tan, or darken. The dermis contains blood and lymph vessels, hair follicles, and glands. See the following PDQ summaries for more information about skin cancer: - Skin Cancer Screening - Skin Cancer Treatment - Melanoma Treatment - Genetics of Skin Cancer + + + There are several types of skin cancer. + The most common types of skin cancer are squamous cell carcinoma, which forms in the squamous cells and basal cell carcinoma, which forms in the basal cells. Squamous cell carcinoma and basal cell carcinoma are also called nonmelanoma skin cancers. Melanoma, which forms in the melanocytes, is a less common type of skin cancer that grows and spreads quickly. Skin cancer can occur anywhere on the body, but it is most common in areas exposed to sunlight, such as the face, neck, hands, and arms. + + + Skin cancer is the most common cancer in the United States. + Basal cell carcinoma and squamous cell carcinoma are the most common types of skin cancer in the United States. The number of new cases of nonmelanoma skin cancer appears to be increasing every year. These nonmelanoma skin cancers can usually be cured. The number of new cases of melanoma has been increasing for at least 30 years. Melanoma is more likely to spread to nearby tissues and other parts of the body and can be harder to cure. Finding and treating melanoma skin cancer early may help prevent death from melanoma.",CancerGov,Skin Cancer +How to prevent Skin Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - Being exposed to ultraviolet radiation is a risk factor for skin cancer. - It is not known if the following lower the risk of nonmelanoma skin cancer: - Sunscreen use and avoiding sun exposure - Chemopreventive agents - It is not known if the following lower the risk of melanoma: - Sunscreen - Counseling and protecting the skin from the sun - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent skin cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + Being exposed to ultraviolet radiation is a risk factor for skin cancer. + Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Risk factors for nonmelanoma skin cancer: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Risk factors for melanoma skin cancer: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white. + + + It is not known if the following lower the risk of nonmelanoma skin cancer: + Sunscreen use and avoiding sun exposure It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this. Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma. The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure. It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation. Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following: - Use sunscreen that protects against UV radiation. - Do not stay out in the sun for long periods of time, especially when the sun is at its strongest. - Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors. Chemopreventive agents Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer: Beta carotene Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back. Isotretinoin High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects. Selenium Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma. Celecoxib A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels. Alpha-difluoromethylornithine (DFMO) A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary. Nicotinamide (vitamin B3) Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back. + + + It is not known if the following lower the risk of melanoma: + Sunscreen It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms. Counseling and protecting the skin from the sun It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent skin cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI Web site. Check NCI's list of cancer clinical trials for nonmelanoma skin cancer prevention trials and melanoma prevention trials that are now accepting patients.",CancerGov,Skin Cancer +Who is at risk for Skin Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - Being exposed to ultraviolet radiation is a risk factor for skin cancer. - It is not known if the following lower the risk of nonmelanoma skin cancer: - Sunscreen use and avoiding sun exposure - Chemopreventive agents - It is not known if the following lower the risk of melanoma: - Sunscreen - Counseling and protecting the skin from the sun - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent skin cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + Being exposed to ultraviolet radiation is a risk factor for skin cancer. + Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Risk factors for nonmelanoma skin cancer: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Risk factors for melanoma skin cancer: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white. + + + It is not known if the following lower the risk of nonmelanoma skin cancer: + Sunscreen use and avoiding sun exposure It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this. Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma. The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure. It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation. Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following: - Use sunscreen that protects against UV radiation. - Do not stay out in the sun for long periods of time, especially when the sun is at its strongest. - Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors. Chemopreventive agents Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer: Beta carotene Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back. Isotretinoin High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects. Selenium Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma. Celecoxib A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels. Alpha-difluoromethylornithine (DFMO) A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary. Nicotinamide (vitamin B3) Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back. + + + It is not known if the following lower the risk of melanoma: + Sunscreen It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms. Counseling and protecting the skin from the sun It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun.",CancerGov,Skin Cancer +what research (or clinical trials) is being done for Skin Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent skin cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI Web site. Check NCI's list of cancer clinical trials for nonmelanoma skin cancer prevention trials and melanoma prevention trials that are now accepting patients.",CancerGov,Skin Cancer +What is (are) Adult Acute Myeloid Leukemia ?,"Key Points + - Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. - Leukemia may affect red blood cells, white blood cells, and platelets. - There are different subtypes of AML. - Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. - Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. + Adult acute myeloid leukemia (AML) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. It is the most common type of acute leukemia in adults. AML is also called acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, and acute nonlymphocytic leukemia. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In AML, the myeloid stem cells usually become a type of immature white blood cell called myeloblasts (or myeloid blasts). The myeloblasts in AML are abnormal and do not become healthy white blood cells. Sometimes in AML, too many stem cells become abnormal red blood cells or platelets. These abnormal white blood cells, red blood cells, or platelets are also called leukemia cells or blasts. Leukemia cells can build up in the bone marrow and blood so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. The leukemia cells can spread outside the blood to other parts of the body, including the central nervous system (brain and spinal cord), skin, and gums. This summary is about adult AML. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Chronic Myelogenous Leukemia Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Childhood Acute Lymphoblastic Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment + + + There are different subtypes of AML. + Most AML subtypes are based on how mature (developed) the cancer cells are at the time of diagnosis and how different they are from normal cells. Acute promyelocytic leukemia (APL) is a subtype of AML that occurs when parts of two genes stick together. APL usually occurs in middle-aged adults. Signs of APL may include both bleeding and forming blood clots.",CancerGov,Adult Acute Myeloid Leukemia +Who is at risk for Adult Acute Myeloid Leukemia? ?,"Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Possible risk factors for AML include the following: - Being male. - Smoking, especially after age 60. - Having had treatment with chemotherapy or radiation therapy in the past. - Having had treatment for childhood acute lymphoblastic leukemia (ALL) in the past. - Being exposed to radiation from an atomic bomb or to the chemical benzene. - Having a history of a blood disorder such as myelodysplastic syndrome.",CancerGov,Adult Acute Myeloid Leukemia +What are the symptoms of Adult Acute Myeloid Leukemia ?,"Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. The early signs and symptoms of AML may be like those caused by the flu or other common diseases. Check with your doctor if you have any of the following: - Fever. - Shortness of breath. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Weakness or feeling tired. - Weight loss or loss of appetite.",CancerGov,Adult Acute Myeloid Leukemia +How to diagnose Adult Acute Myeloid Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH), may also be done to look for certain changes in the chromosomes. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose the subtype of AML by comparing the cancer cells to normal cells of the immune system. For example, a cytochemistry study may test the cells in a sample of tissue using chemicals (dyes) to look for certain changes in the sample. A chemical may cause a color change in one type of leukemia cell but not in another type of leukemia cell. - Reverse transcriptionpolymerase chain reaction test (RTPCR): A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. This test is used to diagnose certain types of AML including acute promyelocytic leukemia (APL).",CancerGov,Adult Acute Myeloid Leukemia +What is the outlook for Adult Acute Myeloid Leukemia ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away.,CancerGov,Adult Acute Myeloid Leukemia +What are the stages of Adult Acute Myeloid Leukemia ?,"Key Points + - Once adult acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. - There is no standard staging system for adult AML. + + + Once adult acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. + The extent or spread of cancer is usually described as stages. In adult acute myeloid leukemia (AML), the subtype of AML and whether the leukemia has spread outside the blood and bone marrow are used instead of the stage to plan treatment. The following tests and procedures may be used to determine if the leukemia has spread: - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. + + + There is no standard staging system for adult AML. + The disease is described as untreated, in remission, or recurrent. Untreated adult AML In untreated adult AML, the disease is newly diagnosed. It has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain, and the following are true: - The complete blood count is abnormal. - At least 20% of the cells in the bone marrow are blasts (leukemia cells). - There are signs or symptoms of leukemia. Adult AML in remission In adult AML in remission, the disease has been treated and the following are true: - The complete blood count is normal. - Less than 5% of the cells in the bone marrow are blasts (leukemia cells). - There are no signs or symptoms of leukemia in the brain and spinal cord or elsewhere in the body. Recurrent Adult AML Recurrent AML is cancer that has recurred (come back) after it has been treated. The AML may come back in the blood or bone marrow.",CancerGov,Adult Acute Myeloid Leukemia +What are the treatments for Adult Acute Myeloid Leukemia ?,"Key Points + - There are different types of treatment for patients with adult acute myeloid leukemia. - The treatment of adult AML usually has 2 phases. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - Stem cell transplant - Other drug therapy - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult acute myeloid leukemia. + Different types of treatment are available for patients with adult acute myeloid leukemia (AML). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + The treatment of adult AML usually has 2 phases. + The 2 treatment phases of adult AML are: - Remission induction therapy: This is the first phase of treatment. The goal is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. - Post-remission therapy: This is the second phase of treatment. It begins after the leukemia is in remission. The goal of post-remission therapy is to kill any remaining leukemia cells that may not be active but could begin to regrow and cause a relapse. This phase is also called remission continuation therapy. + + + Four types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Intrathecal chemotherapy may be used to treat adult AML that has spread to the brain and spinal cord. Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the subtype of AML being treated and whether leukemia cells have spread to the brain and spinal cord. See Drugs Approved for Acute Myeloid Leukemia for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated and whether leukemia cells have spread to the brain and spinal cord. External radiation therapy is used to treat adult AML. Stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood -forming cells that are abnormal or destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Other drug therapy Arsenic trioxide and all-trans retinoic acid (ATRA) are anticancer drugs that kill leukemia cells, stop the leukemia cells from dividing, or help the leukemia cells mature into white blood cells. These drugs are used in the treatment of a subtype of AML called acute promyelocytic leukemia. See Drugs Approved for Acute Myeloid Leukemia for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of adult AML. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + Treatment Options for Adult Acute Myeloid Leukemia + + + Untreated Adult Acute Myeloid Leukemia + Standard treatment of untreated adult acute myeloid leukemia (AML) during the remission induction phase depends on the subtype of AML and may include the following: - Combination chemotherapy. - High-dose combination chemotherapy. - Low-dose chemotherapy. - Intrathecal chemotherapy. - All-trans retinoic acid (ATRA) plus arsenic trioxide for the treatment of acute promyelocytic leukemia (APL). - ATRA plus combination chemotherapy followed by arsenic trioxide for the treatment of APL. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated adult acute myeloid leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Adult Acute Myeloid Leukemia in Remission + Treatment of adult AML during the remission phase depends on the subtype of AML and may include the following: - Combination chemotherapy. - High-dose chemotherapy, with or without radiation therapy, and stem cell transplant using the patient's stem cells. - High-dose chemotherapy and stem cell transplant using donor stem cells. - A clinical trial of arsenic trioxide. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult acute myeloid leukemia in remission. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Adult Acute Myeloid Leukemia + There is no standard treatment for recurrent adult AML. Treatment depends on the subtype of AML and may include the following: - Combination chemotherapy. - Targeted therapy with monoclonal antibodies. - Stem cell transplant. - Arsenic trioxide therapy. - A clinical trial of arsenic trioxide therapy followed by stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent adult acute myeloid leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Adult Acute Myeloid Leukemia +what research (or clinical trials) is being done for Adult Acute Myeloid Leukemia ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of adult AML. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Acute Myeloid Leukemia +What is (are) Childhood Soft Tissue Sarcoma ?,"Key Points + - Childhood soft tissue sarcoma is a disease in which malignant (cancer) cells form in soft tissues of the body. - Soft tissue sarcoma occurs in children and adults. - Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. - The most common sign of childhood soft tissue sarcoma is a painless lump or swelling in soft tissues of the body. - Diagnostic tests are used to detect (find) and diagnose childhood soft tissue sarcoma. - If tests show there may be a soft tissue sarcoma, a biopsy is done. - There are many different types of soft tissue sarcomas. - Fat tissue tumors - Bone and cartilage tumors - Fibrous (connective) tissue tumors - Skeletal muscle tumors - Smooth muscle tumors - So-called fibrohistiocytic tumors - Peripheral nervous system tumors - Pericytic (Perivascular) Tumors - Tumors of unknown origin - Blood vessel tumors - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood soft tissue sarcoma is a disease in which malignant (cancer) cells form in soft tissues of the body. + Soft tissues of the body connect, support, and surround other body parts and organs. The soft tissues include the following: - Fat. - A mix of bone and cartilage. - Fibrous tissue. - Muscles. - Nerves. - Tendons (bands of tissue that connect muscles to bones). - Synovial tissues (tissues around joints). - Blood vessels. - Lymph vessels. Soft tissue sarcoma may be found anywhere in the body. In children, the tumors form most often in the arms, legs, or trunk (chest and abdomen). + + + Soft tissue sarcoma occurs in children and adults. + Soft tissue sarcoma in children may respond differently to treatment, and may have a better prognosis than soft tissue sarcoma in adults. (See the PDQ summary on Adult Soft Tissue Sarcoma Treatment for information on treatment in adults.) + + + There are many different types of soft tissue sarcomas. + The cells of each type of sarcoma look different under a microscope. The soft tissue tumors are grouped based on the type of soft tissue cell where they first formed. This summary is about the following types of soft tissue sarcoma: Fat tissue tumors - Liposarcoma . This is a rare cancer of the fat cells. Liposarcoma usually forms in the fat layer just under the skin. In children and adolescents, liposarcoma is often low grade (likely to grow and spread slowly). There are several different types of liposarcoma. Myxoid liposarcoma is usually low grade and responds well to treatment. The cells of myxoid liposarcoma have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose myxoid liposarcoma, the tumor cells are checked for this genetic change. Pleomorphic liposarcoma is usually high grade (likely to grow and spread quickly) and is less likely to respond well to treatment. Bone and cartilage tumors Bone and cartilage tumors are a mix of bone cells and cartilage cells. Bone and cartilage tumors include the following types: - Extraskeletal mesenchymal chondrosarcoma . This type of bone and cartilage tumor often affects young adults and occurs in the head and neck. - Extraskeletal osteosarcoma . This type of bone and cartilage tumor is very rare in children and adolescents. It is likely to come back after treatment and may spread to the lungs. Fibrous (connective) tissue tumors Fibrous (connective) tissue tumors include the following types: - Desmoid-type fibromatosis (also called desmoid tumor or aggressive fibromatosis). This fibrous tissue tumor is low grade (likely to grow slowly). It may come back in nearby tissues but usually does not spread to distant parts of the body. Rarely, the tumor may disappear without treatment. Desmoid tumors sometimes occur in children with changes in the adenomatous polyposis coli (APC) gene. Changes in this gene cause familial adenomatous polyposis (FAP). FAP is an inherited condition in which many polyps (growths on mucous membranes) form on the inside walls of the colon and rectum. Genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be needed. - Dermatofibrosarcoma protuberans . This is a rare tumor of the deep layers of the skin found in children and adults. The cells of this tumor have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose dermatofibrosarcoma protuberans, the tumor cells are checked for this genetic change. - Fibrosarcoma . There are two types of fibrosarcoma in children and adolescents: - Infantile fibrosarcoma (also called congenital fibrosarcoma). This type of fibrosarcoma is found in children aged 4 years and younger. It most often occurs in infants and may be seen in a prenatal ultrasound exam. This tumor is often large and fast growing, but rarely spreads to distant parts of the body. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose infantile fibrosarcoma, the tumor cells are checked for this genetic change. - Adult-type fibrosarcoma. This is the same type of fibrosarcoma found in adults. The cells of this tumor do not have the genetic change found in infantile fibrosarcoma. See the PDQ summary on Adult Soft Tissue Sarcoma Treatment for more information. - Inflammatory myofibroblastic tumor . This is a fibrous tissue tumor that occurs in children and adolescents. It is likely to come back after treatment but rarely spreads to distant parts of the body. A certain genetic change has been found in about half of these tumors. - Low-grade fibromyxoid sarcoma . This is a slow-growing tumor that affects young and middle-aged adults. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose low-grade fibromyxoid sarcoma, the tumor cells are checked for this genetic change. The tumor may come back many years after treatment and spread to the lungs and the lining of the wall of the chest cavity. Lifelong follow-up is needed. - Myxofibrosarcoma . This is a rare fibrous tissue tumor that is found less often in children than in adults. - Sclerosing epithelioid fibrosarcoma . This is a rare fibrous tissue tumor that can come back and spread to other places years after treatment. Long-term follow-up is needed. Skeletal muscle tumors Skeletal muscle is attached to bones and helps the body move. - Rhabdomyosarcoma . Rhabdomyosarcoma is the most common childhood soft tissue sarcoma in children 14 years and younger. See the PDQ summary on Childhood Rhabdomyosarcoma Treatment for more information. Smooth muscle tumors Smooth muscle lines the inside of blood vessels and hollow internal organs such as the stomach, intestines, bladder, and uterus. - Leiomyosarcoma . This smooth muscle tumor has been linked with Epstein-Barr virus in children who also have HIV disease or AIDS. Leiomyosarcoma may also form as a second cancer in survivors of inherited retinoblastoma, sometimes many years after the initial treatment for retinoblastoma. So-called fibrohistiocytic tumors - Plexiform fibrohistiocytic tumor . This is a rare tumor that usually affects children and young adults. The tumor usually starts as a painless growth on or just under the skin on the arm, hand, or wrist. It may rarely spread to nearby lymph nodes or to the lungs. Peripheral nervous system tumors Peripheral nervous system tumors include the following types: - Ectomesenchymoma . This is a rare, fast-growing tumor of the nerve sheath (protective covering of nerves that are not part of the brain or spinal cord) that occurs mainly in children. Ectomesenchymomas may form in the head and neck, abdomen, perineum, scrotum, arms, or legs. - Malignant peripheral nerve sheath tumor . This is a tumor that forms in the nerve sheath. Some children who have a malignant peripheral nerve sheath tumor have a rare genetic condition called neurofibromatosis type 1 (NF1). This tumor may be low grade or high grade. - Malignant triton tumor . These are very rare, fast-growing tumors that occur most often in children with NF1. Pericytic (Perivascular) Tumors Pericytic tumors form in cells that wrap around blood vessels. Pericytic tumors include the following types: - Myopericytoma . Infantile hemangiopericytoma is a type of myopericytoma. Children younger than 1 year at the time of diagnosis may have a better prognosis. In patients older than 1 year, infantile hemangiopericytoma is more likely to spread to other parts of the body, including the lymph nodes and lungs. - Infantile myofibromatosis . Infantile myofibromatosis is another type of myopericytoma. It is a fibrous tumor that often forms in the first 2 years of life. There may be one nodule under the skin, usually in the head and neck area (myofibroma), or nodules in several skin areas, muscle, and bone (myofibromatosis). These tumors may go away without treatment. Tumors of unknown origin Tumors of unknown origin (the place where the tumor first formed is not known) include the following types: - Alveolar soft part sarcoma . This is a rare tumor of the soft supporting tissue that connects and surrounds the organs and other tissues. It is most commonly found in the limbs but can occur in the tissues of the mouth, jaws, and face. It may grow slowly and may have spread to other parts of the body at the time of diagnosis. Alveolar soft part sarcoma may have a better prognosis when the tumor is 5 centimeters or smaller or when the tumor is completely removed by surgery. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose alveolar soft part sarcoma, the tumor cells are checked for this genetic change. - Clear cell sarcoma of soft tissue . This is a slow-growing soft tissue tumor that begins in a tendon (tough, fibrous, cord-like tissue that connects muscle to bone or to another part of the body). Clear cell sarcoma most commonly occurs in deep tissue of the foot, heel, and ankle. It may spread to nearby lymph nodes. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose clear cell sarcoma of soft tissue, the tumor cells are checked for this genetic change. - Desmoplastic small round cell tumor . This tumor most often forms in the abdomen, pelvis or tissues around the testes, but it may form in the kidney. Desmoplastic small round cell tumor may also spread to the lungs and other parts of the body. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose desmoplastic small round cell tumor, the tumor cells are checked for this genetic change. - Epithelioid sarcoma . This is a rare sarcoma that usually starts deep in soft tissue as a slow growing, firm lump and may spread to the lymph nodes. - Extrarenal (extracranial) rhabdoid tumor . This is a rare, fast-growing tumor of soft tissues such as the liver and peritoneum. It usually occurs in young children, including newborns, but it can occur in older children and adults. Rhabdoid tumors may be linked to a change in a tumor suppressor gene called SMARCB1. This type of gene makes a protein that helps control cell growth. Changes in the SMARCB1 gene may be inherited (passed on from parents to offspring). Genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be needed. - Extraskeletal myxoid chondrosarcoma . This is a rare soft tissue sarcoma that may be found in children and adolescents. Over time, it tends to spread to other parts of the body, including the lymph nodes and lungs. The cells of this tumor usually have a genetic change, often a translocation (part of one chromosome switches places with part of another chromosome). In order to diagnose extraskeletal myxoid chondrosarcoma, the tumor cells are checked for this genetic change. The tumor may come back many years after treatment. - Perivascular epithelioid cell tumors (PEComas). Benign (not cancer) PEComas may be found in children with an inherited condition called tuberous sclerosis. They occur in the stomach, intestines, lungs, female reproductive organs, and genitourinary organs. - Primitive neuroectodermal tumor (PNET)/extraskeletal Ewing tumor . See the PDQ summary on Ewing Sarcoma Treatment for information. - Synovial sarcoma . Synovial sarcoma is a common type of soft tissue sarcoma in children and adolescents. Synovial sarcoma usually forms in the tissues around the joints in the arms or legs, but may also form in the trunk, head, or neck. The cells of this tumor usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). Larger tumors have a greater risk of spreading to other parts of the body, including the lungs. Children younger than 10 years and those whose tumor is 5 centimeters or smaller have a better prognosis. - Undifferentiated /unclassified sarcoma . These tumors usually occur in the muscles that are attached to bones and that help the body move. - Undifferentiated pleomorphic sarcoma /malignant fibrous histiocytoma (high-grade). This type of soft tissue tumor may form in parts of the body where patients have received radiation therapy in the past, or as a second cancer in children with retinoblastoma. The tumor is usually found on the arms or legs and may spread to other parts of the body. See the PDQ summary on Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment for information about malignant fibrous histiocytoma of bone. Blood vessel tumors Blood vessel tumors include the following types: - Angiosarcoma of the soft tissue. Angiosarcoma of the soft tissue is a fast-growing tumor that forms in blood vessels or lymph vessels in any part of the body. Most angiosarcomas are in or just under the skin. Those in deeper soft tissue can form in the liver, spleen, and lung. They are very rare in children, who sometimes have more than one tumor in the skin or liver. Rarely, infantile hemangioma may become angiosarcoma of the soft tissue. (See the PDQ summary on Childhood Vascular Tumors Treatment for more information.) - Epithelioid hemangioendothelioma. Epithelioid hemangioendotheliomas can occur in children, but are most common in adults between 30 and 50 years of age. They usually occur in the liver, lung, or bone. They may be either fast growing or slow growing. In about a third of cases, the tumor spreads to other parts of the body very quickly. (See the PDQ summary on Childhood Vascular Tumors Treatment for more information.) See the following PDQ summaries for information about types of soft tissue sarcoma not included in this summary: - Childhood Rhabdomyosarcoma Treatment. - Ewing Sarcoma Treatment. - Unusual Cancers of Childhood Treatment (gastrointestinal stromal tumors).",CancerGov,Childhood Soft Tissue Sarcoma +Who is at risk for Childhood Soft Tissue Sarcoma? ?,Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for childhood soft tissue sarcoma include having the following inherited disorders: - Li-Fraumeni syndrome. - Familial adenomatous polyposis (FAP). - Retinoblastoma 1 gene changes. - Neurofibromatosis type 1 (NF1). - Werner syndrome. Other risk factors include the following: - Past treatment with radiation therapy. - Having AIDS (acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time.,CancerGov,Childhood Soft Tissue Sarcoma +What are the symptoms of Childhood Soft Tissue Sarcoma ?,"The most common sign of childhood soft tissue sarcoma is a painless lump or swelling in soft tissues of the body. A sarcoma may appear as a painless lump under the skin, often on an arm, a leg, or the trunk. There may be no other signs or symptoms at first. As the sarcoma gets bigger and presses on nearby organs, nerves, muscles, or blood vessels, it may cause signs or symptoms, such as pain or weakness. Other conditions may cause the same signs and symptoms. Check with your childs doctor if your child has any of these problems.",CancerGov,Childhood Soft Tissue Sarcoma +How to diagnose Childhood Soft Tissue Sarcoma ?,"Diagnostic tests are used to detect (find) and diagnose childhood soft tissue sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - X-rays : An x-ray is a type of energy beam that can go through the body onto film, making pictures of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas of the body, such as the chest, abdomen, arms, or legs. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest or abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. + - If tests show there may be a soft tissue sarcoma, a biopsy is done. One of the following types of biopsies is usually used: - Core needle biopsy : The removal of tissue using a wide needle. This procedure may be guided using ultrasound, CT scan, or MRI. - Incisional biopsy : The removal of part of a lump or a sample of tissue. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal. A pathologist views the tissue under a microscope to look for cancer cells. An excisional biopsy may be used to completely remove smaller tumors that are near the surface of the skin. This type of biopsy is rarely used because cancer cells may remain after the biopsy. If cancer cells remain, the cancer may come back or it may spread to other parts of the body. An MRI of the tumor is done before the excisional biopsy. This is done to show where the original tumor is and may be used to guide future surgery or radiation therapy. The placement of needles or incisions for the biopsy can affect the success of later surgery to remove the tumor. If possible, the surgeon who will remove any tumor that is found should be involved in planning the biopsy. In order to plan the best treatment, the sample of tissue removed during the biopsy must be large enough to find out the type of soft tissue sarcoma and do other laboratory tests. Tissue samples will be taken from the primary tumor, lymph nodes, and other areas that may have cancer cells. A pathologist views the tissue under a microscope to look for cancer cells and to find out the type and grade of the tumor. The grade of a tumor depends on how abnormal the cancer cells look under a microscope and how quickly the cells are dividing. High-grade and mid-grade tumors usually grow and spread more quickly than low-grade tumors. Because soft tissue sarcoma can be hard to diagnose, the tissue sample should be checked by a pathologist who has experience in diagnosing soft tissue sarcoma. One or more of the following laboratory tests may be done to study the tissue samples: - Molecular test : A laboratory test to check for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. A molecular test may be done with other procedures, such as biopsies, to help diagnose some types of cancer. Molecular tests check for certain gene or chromosome changes that occur in some soft tissue sarcomas. - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for changes in the expression of certain genes. When genes are expressed they make specific proteins that are needed for the structure, function, and monitoring of the bodys tissues and organs. This test is done in order to identify the type of tumor. - Cytogenetic analysis : A laboratory test in which cells in a sample of bone marrow, blood, amniotic fluid, tumor or other tissue is viewed under a microscope to look for changes in the chromosomes. Fluorescence in situ hybridization (FISH) is a type of cytogenetic analysis. - Immunocytochemistry : A test that uses antibodies to check for certain antigens (markers) in a sample of cells. The antibody is usually linked to an enzyme or fluorescent dye that causes the cells that have that marker to become visible under a microscope. This type of test may be used to tell the difference between different types of soft tissue sarcoma.",CancerGov,Childhood Soft Tissue Sarcoma +What is the outlook for Childhood Soft Tissue Sarcoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The part of the body where the tumor first formed. - The size and grade of the tumor. - The type of soft tissue sarcoma. - How deep the tumor is under the skin. - Whether the tumor has spread to other places in the body. - The amount of tumor remaining after surgery to remove it. - Whether radiation therapy was used to treat the tumor. - The age and gender of the patient. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Childhood Soft Tissue Sarcoma +What are the stages of Childhood Soft Tissue Sarcoma ?,"Key Points + - After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. + + + After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread within the soft tissue or to other parts of the body is called staging. There is no standard staging system for childhood soft tissue sarcoma. In order to plan treatment, it is important to know the type of soft tissue sarcoma, whether the tumor can be removed by surgery, and whether cancer has spread to other parts of the body. The following procedures may be used to find out if cancer has spread: - Sentinel lymph node biopsy: A sentinel lymph node biopsy is done to check if cancer has spread to the lymph nodes. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A small amount of a radioactive substance and/or blue dye is injected near the tumor. The radioactive substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. This procedure is used for epithelioid and clear cell sarcoma. - PET scan: A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. This procedure is also called positron emission tomography (PET) scan. - PET-CT scan: A procedure that combines the pictures from a PET scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if soft tissue sarcoma spreads to the lung, the cancer cells in the lung are soft tissue sarcoma cells. The disease is metastatic soft tissue sarcoma, not lung cancer.",CancerGov,Childhood Soft Tissue Sarcoma +what research (or clinical trials) is being done for Childhood Soft Tissue Sarcoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Gene therapy Gene therapy is being studied for childhood synovial sarcoma that has recurred, spread, or cannot be removed by surgery. Some of the patient's T cells (a type of white blood cell) are removed and the genes in the cells are changed in a laboratory (genetically engineered) so that they will attack specific cancer cells. They are then given back to the patient by infusion. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Soft Tissue Sarcoma +What are the treatments for Childhood Soft Tissue Sarcoma ?,"Key Points + - There are different types of treatment for patients with childhood soft tissue sarcoma. - Children with childhood soft tissue sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for childhood soft tissue sarcoma may cause side effects. - Eight types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Observation - Hormone therapy - Nonsteroidal anti-inflammatory drugs - Targeted therapy - Immunotherapy - New types of treatment are being tested in clinical trials. - Gene therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with childhood soft tissue sarcoma. + Different types of treatments are available for patients with childhood soft tissue sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with childhood soft tissue sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with soft tissue sarcoma and who specialize in certain areas of medicine. These may include a pediatric surgeon with special training in the removal of soft tissue sarcomas. The following specialists may also be included: - Pediatrician. - Radiation oncologist. - Pediatric hematologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. - Child-life specialist. + + + Treatment for childhood soft tissue sarcoma may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) + + + Eight types of standard treatment are used: + Surgery Surgery to completely remove the soft tissue sarcoma is done when possible. If the tumor is very large, radiation therapy or chemotherapy may be given first, to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. This is called neoadjuvant therapy. The following types of surgery may be used: - Wide local excision: Removal of the tumor along with some normal tissue around it. - Amputation: Surgery to remove all or part of the limb or appendage with cancer, such as the arm or hand. - Lymphadenectomy: Removal of the lymph nodes with cancer. - Mohs surgery: A surgical procedure used to treat cancer in the skin. Individual layers of cancer tissue are removed and checked under a microscope one at a time until all cancer tissue has been removed. This type of surgery is used to treat dermatofibrosarcoma protuberans. It is also called Mohs micrographic surgery. - Hepatectomy: Surgery to remove all or part of the liver. A second surgery may be needed to: - Remove any remaining cancer cells. - Check the area around where the tumor was removed for cancer cells and then remove more tissue if needed. If cancer is in the liver, a hepatectomy and liver transplant may be done (the liver is removed and replaced with a healthy one from a donor). Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy or chemotherapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated and whether the tumor was completely removed by surgery. External and internal radiation therapy are used to treat childhood soft tissue sarcoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of cancer being treated. Most types of soft tissue sarcoma do not respond to treatment with chemotherapy. See Drugs Approved for Soft Tissue Sarcoma for more information. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Observation may be done when: - Complete removal of the tumor is not possible. - No other treatments are available. - The tumor is not likely to damage any vital organs. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. Antiestrogens (drugs that block estrogen), such as tamoxifen, may be used to treat desmoid-type fibromatosis. Nonsteroidal anti-inflammatory drugs Nonsteroidal anti-inflammatory drugs (NSAIDs) are drugs (such as aspirin, ibuprofen, and naproxen) that are commonly used to decrease fever, swelling, pain, and redness. In the treatment of desmoid-type fibromatosis, an NSAID called sulindac may be used to help block the growth of cancer cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. Kinase inhibitors are a type of targeted therapy that block an enzyme called kinase (a type of protein). There are different types of kinases in the body that have different actions. - ALK inhibitors may stop the cancer from growing and spreading: - Crizotinib may be used to treat inflammatory myofibroblastic tumor. - Tyrosine kinase inhibitors (TKIs) block signals needed for tumors to grow: - Imatinib is used to treat dermatofibrosarcoma protuberans. - Pazopanib may be used to treat recurrent and progressive soft tissue sarcoma. It is being studied for many types of newly diagnosed soft tissue sarcoma. - Sorafenib may be used to treat desmoid-type fibromatosis. New types of tyrosine kinase inhibitors are being studied such as LOXO-101 and entrectinib for infantile fibrosarcoma. Other types of targeted therapy are being studied in clinical trials, including the following: - mTOR inhibitors are a type of targeted therapy that stops the protein that helps cells divide and survive. mTOR inhibitors are being studied to treat perivascular epithelioid cell tumors (PEComas) and epithelioid hemangioendothelioma. Sirolimus is a type of mTOR inhibitor therapy. - Angiogenesis inhibitors are a type of targeted therapy that prevent the growth of new blood vessels needed for tumors to grow. Angiogenesis inhibitors, such as cediranib, sunitinib, and thalidomide are being studied to treat alveolar soft part sarcoma and epithelioid hemangioendothelioma. Bevacizumab is being studied for blood vessel tumors. - Histone methyltransferase (HMT) inhibitors are targeted therapy drugs that work inside cancer cells and block signals needed for tumors to grow. HMT inhibitors are being studied for the treatment of epithelioid sarcoma, malignant peripheral nerve sheath tumor, extrarenal (extracranial) rhabdoid tumor, extraskeletal myxoid chondrosarcoma, and synovial sarcoma. - Heat-shock protein inhibitors block certain proteins that protect tumor cells and help them grow. Ganetespib is a heat shock protein inhibitor being studied in combination with the mTOR inhibitor sirolimus for malignant peripheral nerve sheath tumors that cannot be removed by surgery. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied for the treatment of rhabdomyosarcoma, malignant peripheral nerve sheath tumor, and synovial sarcoma. See Drugs Approved for Soft Tissue Sarcoma for more information. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight disease. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against disease. Interferon is a type of immunotherapy used to treat epithelioid hemangioendothelioma. It interferes with the division of tumor cells and can slow tumor growth. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Soft Tissue Sarcoma + + + Newly Diagnosed Childhood Soft Tissue Sarcoma + Fat Tissue Tumors Liposarcoma Treatment of liposarcoma may include the following: - Surgery to completely remove the tumor. If the cancer is not completely removed, a second surgery may be done. - Chemotherapy to shrink the tumor, followed by surgery. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Bone and Cartilage Tumors Extraskeletal mesenchymal chondrosarcoma Treatment of extraskeletal mesenchymal chondrosarcoma may include the following: - Surgery to completely remove the tumor. Radiation therapy may be given before and/or after surgery. - Chemotherapy followed by surgery. Chemotherapy with or without radiation therapy is given after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Extraskeletal osteosarcoma Treatment of extraskeletal osteosarcoma may include the following: - Surgery to completely remove the tumor, followed by chemotherapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. See the PDQ summary on Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment for more information. Fibrous (Connective) Tissue Tumors Desmoid-type fibromatosis Treatment of desmoid-type fibromatosis may include the following: - Surgery to completely remove the tumor. Treatment before surgery may include the following: - Observation. - Chemotherapy. - Radiation therapy. - Antiestrogen drug therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy. If the tumor is not completely removed by surgery, treatment may include the following: - Observation, if other treatment options are not possible. - Radiation therapy. - Radiation therapy or chemotherapy for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Treatment of desmoid-type fibromatosis that has come back may include the following: - Observation and possibly surgery at a later time. - Chemotherapy. Dermatofibrosarcoma protuberans Treatment of dermatofibrosarcoma protuberans may include the following: - Surgery to completely remove the tumor when possible. This may include Mohs surgery. - Radiation therapy before or after surgery. - Targeted therapy (imatinib) if the tumor cannot be removed or has come back. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Fibrosarcoma Infantile fibrosarcoma Treatment of infantile fibrosarcoma may include the following: - Surgery to remove the tumor when possible, followed by observation. - Surgery followed by chemotherapy. - Chemotherapy to shrink the tumor, followed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (tyrosine kinase inhibitor). Adult-type fibrosarcoma Treatment of adult-type fibrosarcoma may include the following: - Surgery to completely remove the tumor when possible. Inflammatory myofibroblastic tumor Treatment of inflammatory myofibroblastic tumor may include the following: - Surgery to completely remove the tumor when possible. - Chemotherapy. - Steroid therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy. - Targeted therapy (ALK inhibitors). - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Low-grade fibromyxoid sarcoma Treatment of low-grade fibromyxoid sarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Myxofibrosarcoma Treatment of myxofibrosarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Sclerosing epithelioid fibrosarcoma Treatment of sclerosing epithelioid fibrosarcoma may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Skeletal Muscle Tumors Rhabdomyosarcoma See the PDQ summary on Childhood Rhabdomyosarcoma Treatment. Smooth Muscle Tumors Leiomyosarcoma Treatment of leiomyosarcoma may include the following: - Chemotherapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. So-called Fibrohistiocytic Tumors Plexiform fibrohistiocytic tumor Treatment of plexiform fibrohistiocytic tumor may include the following: - Surgery to completely remove the tumor. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Peripheral Nervous System Tumors Ectomesenchymoma Treatment of ectomesenchymoma may include the following: - Surgery and chemotherapy. - Radiation therapy. Malignant peripheral nerve sheath tumor Treatment of malignant peripheral nerve sheath tumor may include the following: - Surgery to completely remove the tumor when possible. - Radiation therapy before or after surgery. - Chemotherapy, for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy, for tumors that cannot be removed by surgery. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). - A clinical trial of an antibody-drug conjugate. It is not clear whether giving radiation therapy or chemotherapy after surgery improves the tumor's response to treatment. Malignant triton tumor Malignant triton tumors may be treated the same as rhabdomyosarcomas and include surgery, chemotherapy, or radiation therapy. A regimen of targeted therapy, radiation therapy, and surgery with or without chemotherapy is being studied. Pericytic (Perivascular) Tumors Infantile hemangiopericytoma Treatment of infantile hemangiopericytoma may include the following: - Chemotherapy. Infantile myofibromatosis Treatment of infantile myofibromatosis may include the following: - Combination chemotherapy. Tumors of Unknown Origin (the place where the tumor first formed is not known) Alveolar soft part sarcoma Treatment of alveolar soft part sarcoma may include the following: - Surgery to completely remove the tumor when possible. - Radiation therapy before or after surgery, if the tumor cannot be completely removed by surgery. - Targeted therapy (angiogenesis inhibitor). - A clinical trial of targeted therapy (angiogenesis inhibitor) for children. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Clear cell sarcoma of soft tissue Treatment of clear cell sarcoma of soft tissue may include the following: - Surgery to remove the tumor when possible. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Desmoplastic small round cell tumor There is no standard treatment for desmoplastic small round cell tumor. Treatment may include the following: - Surgery to completely remove the tumor when possible. - Chemotherapy followed by surgery. - Radiation therapy. Epithelioid sarcoma Treatment of epithelioid sarcoma may include the following: - Surgery to remove the tumor when possible. - Chemotherapy before or after surgery. - Radiation therapy before or after surgery. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Extrarenal (extracranial) rhabdoid tumor Treatment of extrarenal (extracranial) rhabdoid tumor may include the following: - A combination of surgery to remove the tumor when possible, chemotherapy, and radiation therapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Extraskeletal myxoid chondrosarcoma Treatment of extraskeletal myxoid chondrosarcoma may include the following: - Surgery to remove the tumor when possible. - Radiation therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). Perivascular epithelioid cell tumors (PEComas) Treatment of perivascular epithelioid cell tumors may include the following: - Surgery to remove the tumor. - Observation followed by surgery. - Targeted therapy (mTOR inhibitor), for tumors that have certain gene changes and cannot be removed by surgery. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Primitive neuroectodermal tumor (PNET)/extraskeletal Ewing tumor See the PDQ summary on Ewing Sarcoma Treatment. Synovial sarcoma Treatment of synovial sarcoma may include the following: - Chemotherapy. - Surgery. Radiation therapy and/or chemotherapy may be given before or after surgery. - A clinical trial of gene therapy. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. - A clinical trial of targeted therapy (histone methyltransferase inhibitor). - A clinical trial of an antibody-drug conjugate. Undifferentiated/unclassified sarcoma These tumors include undifferentiated pleomorphic sarcoma /malignant fibrous histiocytoma (high-grade). There is no standard treatment for these tumors. Treatment may include the following: - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. See the PDQ summary on Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment for information about the treatment of malignant fibrous histiocytoma of bone. Blood Vessel Tumors Angiosarcoma of soft tissue Treatment of angiosarcoma may include the following: - Surgery to completely remove the tumor. - A combination of surgery, chemotherapy, and radiation therapy for angiosarcomas that have spread. - Targeted therapy (bevacizumab) and chemotherapy for angiosarcomas that began as infantile hemangiomas. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy. Epithelioid hemangioendothelioma Treatment of epithelioid hemangioendothelioma may include the following: - Surgery to remove the tumor when possible. - Immunotherapy (interferon) and targeted therapy (thalidomide, sorafenib, pazopanib, sirolimus) for tumors that are likely to spread. - Chemotherapy. - Total hepatectomy and liver transplant when the tumor is in the liver. Metastatic Childhood Soft Tissue Sarcoma Treatment of childhood soft tissue sarcoma that has spread to other parts of the body at diagnosis may include the following: - Chemotherapy and radiation therapy. Surgery may be done to remove tumors that have spread to the lung. - Stereotactic body radiation therapy for tumors that have spread to the lung. For treatment of specific tumor types, see the Treatment Options for Childhood Soft Tissue Sarcoma section. Check the list of NCI-supported cancer clinical trials that are now accepting patients with nonmetastatic childhood soft tissue sarcoma and metastatic childhood soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent and Progressive Childhood Soft Tissue Sarcoma + Treatment of recurrent or progressive childhood soft tissue sarcoma may include the following: - Surgery to remove cancer that has come back where it first formed or that has spread to the lung. - Surgery followed by external or internal radiation therapy, if radiation therapy has not already been given. - Surgery to remove the arm or leg with cancer, if radiation therapy was already given. - Chemotherapy. - Targeted therapy (tyrosine kinase inhibitor). - A clinical trial of a new chemotherapy regimen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Soft Tissue Sarcoma +What is (are) Thymoma and Thymic Carcinoma ?,"Key Points + - Thymoma and thymic carcinoma are diseases in which malignant (cancer) cells form on the outside surface of the thymus. - Thymoma is linked with myasthenia gravis and other autoimmune diseases. - Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. - Tests that examine the thymus are used to detect (find) thymoma or thymic carcinoma. - Thymoma and thymic carcinoma are usually diagnosed, staged, and treated during surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Thymoma and thymic carcinoma are diseases in which malignant (cancer) cells form on the outside surface of the thymus. + The thymus, a small organ that lies in the upper chest under the breastbone, is part of the lymph system. It makes white blood cells, called lymphocytes, that protect the body against infections. There are different types of tumors of the thymus. Thymomas and thymic carcinomas are rare tumors of the cells that are on the outside surface of the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. On the other hand, the tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. Thymic carcinoma is more difficult to treat than thymoma. For information on thymoma and thymic carcinoma in children, see the PDQ summary on Unusual Cancers of Childhood Treatment. + + + Thymoma is linked with myasthenia gravis and other autoimmune diseases. + People with thymoma often have autoimmune diseases as well. These diseases cause the immune system to attack healthy tissue and organs. They include: - Myasthenia gravis. - Acquired pure red cell aplasia. - Hypogammaglobulinemia. - Polymyositis. - Lupus erythematosus. - Rheumatoid arthritis. - Thyroiditis. - Sjgren syndrome.",CancerGov,Thymoma and Thymic Carcinoma +What are the symptoms of Thymoma and Thymic Carcinoma ?,"Signs and symptoms of thymoma and thymic carcinoma include a cough and chest pain. Thymoma and thymic carcinoma may not cause early signs or symptoms. The cancer may be found during a routine chest x-ray. Signs and symptoms may be caused by thymoma, thymic carcinoma, or other conditions. Check with your doctor if you have any of the following: - A cough that doesn't go away. - Chest pain. - Trouble breathing.",CancerGov,Thymoma and Thymic Carcinoma +How to diagnose Thymoma and Thymic Carcinoma ?,"Tests that examine the thymus are used to detect (find) thymoma or thymic carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Chest x-ray: An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the chest. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + Thymoma and thymic carcinoma are usually diagnosed, staged, and treated during surgery. A biopsy of the tumor is done to diagnose the disease. The biopsy may be done before or during surgery (a mediastinoscopy or mediastinotomy), using a thin needle to remove a sample of cells. This is called a fine-needle aspiration (FNA) biopsy. Sometimes a wide needle is used to remove a sample of cells and this is called a core biopsy. A pathologist will view the sample under a microscope to check for cancer. If thymoma or thymic carcinoma is diagnosed, the pathologist will determine the type of cancer cell in the tumor. There may be more than one type of cancer cell in a thymoma. The surgeon will decide if all or part of the tumor can be removed by surgery. In some cases, lymph nodes and other tissues may be removed as well.",CancerGov,Thymoma and Thymic Carcinoma +What is the outlook for Thymoma and Thymic Carcinoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of cancer cell. - Whether the tumor can be removed completely by surgery. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Thymoma and Thymic Carcinoma +What are the stages of Thymoma and Thymic Carcinoma ?,"Key Points + - Tests done to detect thymoma or thymic carcinoma are also used to stage the disease. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for thymoma: - Stage I - Stage II - Stage III - Stage IV - Thymic carcinomas have usually spread to other parts of the body when diagnosed. + + + Tests done to detect thymoma or thymic carcinoma are also used to stage the disease. + Staging is the process used to find out if cancer has spread from the thymus to other parts of the body. The findings made during surgery and the results of tests and procedures are used to determine the stage of the disease. It is important to know the stage in order to plan treatment. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if thymic carcinoma spreads to the bone, the cancer cells in the bone are actually thymic carcinoma cells. The disease is metastatic thymic carcinoma, not bone cancer. + + + The following stages are used for thymoma: + Stage I In stage I, cancer is found only within the thymus. All cancer cells are inside the capsule (sac) that surrounds the thymus. Stage II In stage II, cancer has spread through the capsule and into the fat around the thymus or into the lining of the chest cavity. Stage III In stage III, cancer has spread to nearby organs in the chest, including the lung, the sac around the heart, or large blood vessels that carry blood to the heart. Stage IV Stage IV is divided into stage IVA and stage IVB, depending on where the cancer has spread. - In stage IVA, cancer has spread widely around the lungs and heart. - In stage IVB, cancer has spread to the blood or lymph system. + + + Thymic carcinomas have usually spread to other parts of the body when diagnosed. + The staging system used for thymomas is sometimes used for thymic carcinomas.",CancerGov,Thymoma and Thymic Carcinoma +what research (or clinical trials) is being done for Thymoma and Thymic Carcinoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Thymoma and Thymic Carcinoma +What are the treatments for Thymoma and Thymic Carcinoma ?,"Key Points + - There are different types of treatment for patients with thymoma and thymic carcinoma. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with thymoma and thymic carcinoma. + Different types of treatments are available for patients with thymoma and thymic carcinoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery to remove the tumor is the most common treatment of thymoma. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat thymoma and thymic carcinoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy may be used to shrink the tumor before surgery or radiation therapy. This is called neoadjuvant chemotherapy. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances produced by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. Hormone therapy with drugs called corticosteroids may be used to treat thymoma or thymic carcinoma. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + + Treatment Options for Thymoma and Thymic Carcinoma + + + Stage I and Stage II Thymoma + Treatment of stage I thymoma is surgery. Treatment of stage II thymoma is surgery followed by radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I thymoma and stage II thymoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III and Stage IV Thymoma + Treatment of stage III and stage IV thymoma that may be completely removed by surgery includes the following: - Surgery with or without radiation therapy. - Neoadjuvant chemotherapy followed by surgery with or without radiation therapy. - A clinical trial of anticancer drugs in new combinations or doses. - A clinical trial of new ways of giving radiation therapy. Treatment of stage III and stage IV thymoma that cannot be completely removed by surgery includes the following: - Neoadjuvant chemotherapy followed by surgery and/or radiation therapy. - Radiation therapy. - Chemotherapy. - A clinical trial of anticancer drugs in new combinations or doses. - A clinical trial of new ways of giving radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III thymoma and stage IV thymoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Thymic Carcinoma + Treatment of thymic carcinoma that may be completely removed by surgery includes the following: - Surgery with or without radiation therapy. - A clinical trial of anticancer drugs in new combinations or doses. - A clinical trial of new ways of giving radiation therapy. Treatment of thymic carcinoma that cannot be completely removed by surgery includes the following: - Radiation therapy. - Chemotherapy with or without surgery to remove part of the tumor and/or radiation therapy. - Chemotherapy with radiation therapy. - Chemotherapy. - A clinical trial of anticancer drugs in new combinations or doses. - A clinical trial of new ways of giving radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with thymic carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Thymoma and Thymic Carcinoma + Treatment of recurrent thymoma and thymic carcinoma may include the following: - Surgery with or without radiation therapy. - Radiation therapy. - Hormone therapy. - Chemotherapy. - A clinical trial of anticancer drugs in new combinations or doses. - A clinical trial of new ways of giving radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent thymoma and thymic carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Thymoma and Thymic Carcinoma +What is (are) Wilms Tumor and Other Childhood Kidney Tumors ?,"Key Points + - Childhood kidney tumors are diseases in which malignant (cancer) cells form in the tissues of the kidney. - There are many types of childhood kidney tumors. - Wilms Tumor - Renal Cell Cancer (RCC) - Rhabdoid Tumor of the Kidney - Clear Cell Sarcoma of the Kidney - Congenital Mesoblastic Nephroma - Ewing Sarcoma of the Kidney - Primary Renal Myoepithelial Carcinoma - Cystic Partially Differentiated Nephroblastoma - Multilocular Cystic Nephroma - Primary Renal Synovial Sarcoma - Anaplastic Sarcoma of the Kidney - Nephroblastomatosis is not cancer but may become Wilms tumor. - Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor. - Tests are used to screen for Wilms tumor. - Having certain conditions may increase the risk of renal cell cancer. - Treatment for Wilms tumor and other childhood kidney tumors may include genetic counseling. - Signs of Wilms tumor and other childhood kidney tumors include a lump in the abdomen and blood in the urine. - Tests that examine the kidney and the blood are used to detect (find) and diagnose Wilms tumor and other childhood kidney tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood kidney tumors are diseases in which malignant (cancer) cells form in the tissues of the kidney. + There are two kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. + + + There are many types of childhood kidney tumors. + Wilms Tumor In Wilms tumor, one or more tumors may be found in one or both kidneys. Wilms tumor may spread to the lungs, liver, bone, brain, or nearby lymph nodes. In children and adolescents younger than 15 years old, most kidney cancers are Wilms tumors. Renal Cell Cancer (RCC) Renal cell cancer is rare in children and adolescents younger than 15 years old. It is much more common in adolescents between 15 and 19 years old. Children and adolescents are more likely to be diagnosed with a large renal cell tumor or cancer that has spread. Renal cell cancers may spread to the lungs, liver, or lymph nodes. Renal cell cancer may also be called renal cell carcinoma. Rhabdoid Tumor of the Kidney Rhabdoid tumor of the kidney is a type of kidney cancer that occurs mostly in infants and young children. It is often advanced at the time of diagnosis. Rhabdoid tumor of the kidney grows and spreads quickly, often to the lungs or brain. Children with a certain change in the SMARCB1 gene are checked regularly to see if a rhabdoid tumor has formed in the kidney or has spread to the brain: - Children younger than one year old have an ultrasound of the abdomen every two to three months and an ultrasound of the head every month. - Children one to four years old have an ultrasound of the abdomen and an MRI of the brain and spine every three months. Clear Cell Sarcoma of the Kidney Clear cell sarcoma of the kidney is a type of kidney tumor that may spread to the lung, bone, brain, or soft tissue. When it recurs (comes back) after treatment, it often recurs in the brain or lung. Congenital Mesoblastic Nephroma Congenital mesoblastic nephroma is a tumor of the kidney that is often diagnosed during the first year of life. It can usually be cured. Ewing Sarcoma of the Kidney Ewing sarcoma (previously called neuroepithelial tumor) of the kidney is rare and usually occurs in young adults. These tumors grow and spread to other parts of the body quickly. Primary Renal Myoepithelial Carcinoma Primary renal myoepithelial carcinoma is a rare type of cancer that usually affects soft tissues, but sometimes forms in the internal organs (such as the kidney). This type of cancer grows and spreads quickly. Cystic Partially Differentiated Nephroblastoma Cystic partially differentiated nephroblastoma is a very rare type of Wilms tumor made up of cysts. Multilocular Cystic Nephroma Multilocular cystic nephromas are benign tumors made up of cysts and are most common in infants, young children, and adult women. These tumors can occur in one or both kidneys. Children with this type of tumor also may have pleuropulmonary blastoma, so imaging tests that check the lungs for cysts or solid tumors are done. Since multilocular cystic nephroma may be an inherited condition, genetic counseling and genetic testing may be considered. See the PDQ summary about Unusual Cancers of Childhood Treatment for more information about pleuropulmonary blastoma. Primary Renal Synovial Sarcoma Primary renal synovial sarcoma is a cyst-like tumor of the kidney and is most common in young adults. These tumors grow and spread quickly. Anaplastic Sarcoma of the Kidney Anaplastic sarcoma of the kidney is a rare tumor that is most common in children or adolescents younger than 15 years of age. Anaplastic sarcoma of the kidney often spreads to the lungs, liver, or bones. Imaging tests that check the lungs for cysts or solid tumors may be done. Since anaplastic sarcoma may be an inherited condition, genetic counseling and genetic testing may be considered. + + + Nephroblastomatosis is not cancer but may become Wilms tumor. + Sometimes, after the kidneys form in the fetus, abnormal groups of kidney cells remain in one or both kidneys. In nephroblastomatosis (diffuse hyperplastic perilobar nephroblastomatosis), these abnormal groups of cells may grow in many places inside the kidney or make a thick layer around the kidney. When these groups of abnormal cells are found in a kidney after it was removed for Wilms tumor, the child has an increased risk of Wilms tumor in the other kidney. Frequent follow-up testing is important at least every 3 months, for at least 7 years after the child is treated. + + + Treatment for Wilms tumor and other childhood kidney tumors may include genetic counseling. + Genetic counseling (a discussion with a trained professional about genetic diseases and whether genetic testing is needed) may be needed if the child has one of the following syndromes or conditions: - A genetic syndrome or condition that increases the risk of Wilms tumor. - An inherited condition that increases the risk of renal cell cancer. - Rhabdoid tumor of the kidney. - Multilocular cystic nephroma.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +Who is at risk for Wilms Tumor and Other Childhood Kidney Tumors? ?,"Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor. + Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your child's doctor if you think your child may be at risk. Wilms tumor may be part of a genetic syndrome that affects growth or development. A genetic syndrome is a set of signs and symptoms or conditions that occur together and is caused by certain changes in the genes. Certain conditions can also increase a child's risk of developing Wilms tumor. These and other genetic syndromes and conditions have been linked to Wilms tumor: - WAGR syndrome (Wilms tumor, aniridia, abnormal genitourinary system, and mental retardation). - Denys-Drash syndrome (abnormal genitourinary system). - Frasier syndrome (abnormal genitourinary system). - Beckwith-Wiedemann syndrome (abnormally large growth of one side of the body or a body part, large tongue, umbilical hernia at birth, and abnormal genitourinary system). - A family history of Wilms tumor. - Aniridia (the iris, the colored part of the eye, is missing). - Isolated hemihyperplasia (abnormally large growth of one side of the body or a body part). - Urinary tract problems such as cryptorchidism or hypospadias. + + + Having certain conditions may increase the risk of renal cell cancer. + Renal cell cancer may be related to the following conditions: - Von Hippel-Lindau disease (an inherited condition that causes abnormal growth of blood vessels). Children with Von Hippel-Lindau disease should be checked yearly for renal cell cancer with an ultrasound of the abdomen or an MRI (magnetic resonance imaging) beginning at age 8 to 11 years. - Tuberous sclerosis (an inherited disease marked by noncancerous fatty cysts in the kidney). - Familial renal cell cancer (an inherited condition that occurs when certain changes in the genes that cause kidney cancer are passed down from the parent to the child). - Renal medullary cancer (a rare kidney cancer that grows and spreads quickly). - Hereditary leiomyomatosis (an inherited disorder that increases the risk of having cancer of the kidney, skin, and uterus). Prior chemotherapy or radiation therapy for a childhood cancer, such as neuroblastoma, soft tissue sarcoma, leukemia, or Wilms tumor may also increase the risk of renal cell cancer. See the Second Cancers section in the PDQ summary about Late Effects of Treatment for Childhood Cancer for more information.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +What are the symptoms of Wilms Tumor and Other Childhood Kidney Tumors ?,"Signs of Wilms tumor and other childhood kidney tumors include a lump in the abdomen and blood in the urine. Sometimes childhood kidney tumors do not cause signs and symptoms and the parent finds a mass in the abdomen by chance or the mass is found during a well-child health check up. These and other signs and symptoms may be caused by kidney tumors or by other conditions. Check with your child's doctor if your child has any of the following: - A lump, swelling, or pain in the abdomen. - Blood in the urine. - High blood pressure (headache, feeling very tired, chest pain, or trouble seeing or breathing). - Hypercalcemia (loss of appetite, nausea and vomiting, weakness, or feeling very tired). - Fever for no known reason. - Loss of appetite. - Weight loss for no known reason. Wilms tumor that has spread to the lungs or liver may cause the following signs and symptoms: - Cough. - Blood in the sputum. - Trouble breathing. - Pain in the abdomen.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +How to diagnose Wilms Tumor and Other Childhood Kidney Tumors ?,"Tests are used to screen for Wilms tumor. + Screening tests are done in children with an increased risk of Wilms tumor. These tests may help find cancer early and decrease the chance of dying from cancer. In general, children with an increased risk of Wilms tumor should be screened for Wilms tumor every three months until they are at least 8 years old. An ultrasound test of the abdomen is usually used for screening. Small Wilms tumors may be found and removed before symptoms occur. Children with Beckwith-Wiedemann syndrome or hemihyperplasia are also screened for liver and adrenal tumors that are linked to these genetic syndromes. A test to check the alpha-fetoprotein (AFP) level in the blood and an ultrasound of the abdomen are done until the child is 4 years old. An ultrasound of the kidneys is done after the child is 4 years old. In children with certain gene changes, a different schedule for ultrasound of the abdomen may be used. Children with aniridia and a certain gene change are screened for Wilms tumor every three months until they are 8 years old. An ultrasound test of the abdomen is used for screening. Some children develop Wilms tumor in both kidneys. These often appear when Wilms tumor is first diagnosed, but Wilms tumor may also occur in the second kidney after the child is successfully treated for Wilms tumor in one kidney. Children with an increased risk of a second Wilms tumor in the other kidney should be screened for Wilms tumor every three months for up to eight years. An ultrasound test of the abdomen may be used for screening. + + + Tests that examine the kidney and the blood are used to detect (find) and diagnose Wilms tumor and other childhood kidney tumors. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. This test is done to check how well the liver and kidneys are working. - Renal function test : A procedure in which blood or urine samples are checked to measure the amounts of certain substances released into the blood or urine by the kidneys. A higher or lower than normal amount of a substance can be a sign that the kidneys are not working as they should. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, and bacteria. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An ultrasound of the abdomen is done to diagnose a kidney tumor. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye is injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium: A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the abdomen. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - X-ray: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body, such as the chest and abdomen. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The decision of whether to do a biopsy is based on the following: - The size of the tumor. - The stage of the cancer. - Whether cancer is in one or both kidneys. - Whether imaging tests clearly show the cancer. - Whether the tumor can be removed by surgery. - Whether the patient is in a clinical trial. A biopsy may be done before any treatment is given, after chemotherapy to shrink the tumor, or after surgery to remove the tumor.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +What is the outlook for Wilms Tumor and Other Childhood Kidney Tumors ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for Wilms tumor depend on the following: - How different the tumor cells are from normal kidney cells when looked at under a microscope. - The stage of the cancer. - The type of tumor. - The age of the child. - Whether the tumor can be completely removed by surgery. - Whether there are certain changes in chromosomes or genes. - Whether the cancer has just been diagnosed or has recurred (come back). The prognosis for renal cell cancer depends on the following: - The stage of the cancer. - Whether the cancer has spread to the lymph nodes. The prognosis for rhabdoid tumor of the kidney depends on the following: - The age of the child at the time of diagnosis. - The stage of the cancer. - Whether the cancer has spread to the brain or spinal cord. The prognosis for clear cell sarcoma of the kidney depends on the following: - The age of the child at the time of diagnosis. - The stage of the cancer.,CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +What are the stages of Wilms Tumor and Other Childhood Kidney Tumors ?,"Key Points + - Wilms tumors are staged during surgery and with imaging tests. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - In addition to the stages, Wilms tumors are described by their histology. - The following stages are used for both favorable histology and anaplastic Wilms tumors: - Stage I - Stage II - Stage III - Stage IV - Stage V - The treatment of other childhood kidney tumors depends on the tumor type. + + + Wilms tumors are staged during surgery and with imaging tests. + The process used to find out if cancer has spread outside of the kidney to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The doctor will use results of the diagnostic and staging tests to help find out the stage of the disease. The following tests may be done to see if cancer has spread to other places in the body: - Lymph node biopsy : A surgical procedure in which lymph nodes in the abdomen are removed and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called lymphadenectomy or lymph node dissection. - Liver function test : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign that the liver is not working as it should. - X-ray of the chest and bones: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body, such as the chest. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, pelvis, chest, and brain, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye is injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the abdomen, pelvis, and brain. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An ultrasound of the major heart vessels is done to stage Wilms tumor. - Cystoscopy : A procedure to look inside the bladder and urethra to check for abnormal areas. A cystoscope is inserted through the urethra into the bladder. A cystoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if Wilms tumor spreads to the lung, the cancer cells in the lung are actually Wilms tumor cells. The disease is metastatic Wilms tumor, not lung cancer. + + + In addition to the stages, Wilms tumors are described by their histology. + The histology (how the cells look under a microscope) of the tumor affects the prognosis and the treatment of Wilms tumor. The histology may be favorable or anaplastic (unfavorable). Tumors with a favorable histology have a better prognosis and respond better to chemotherapy than anaplastic tumors. Tumor cells that are anaplastic divide quickly and under a microscope do not look like the type of cells they came from. Anaplastic tumors are harder to treat with chemotherapy than other Wilms tumors at the same stage. + + + The following stages are used for both favorable histology and anaplastic Wilms tumors: + Stage I In stage I, the tumor was completely removed by surgery and all of the following are true: - Cancer was found only in the kidney and had not spread to blood vessels in the renal sinus (the part of the kidney where it joins the ureter) or to the lymph nodes. - The outer layer of the kidney did not break open. - The tumor did not break open. - A biopsy was not done before the tumor was removed. - No cancer cells were found at the edges of the area where the tumor was removed. Stage II In stage II, the tumor was completely removed by surgery and no cancer cells were found at the edges of the area where the cancer was removed. Cancer has not spread to lymph nodes. Before the tumor was removed, one of the following was true: - Cancer had spread to the renal sinus (the part of the kidney where it joins the ureter). - Cancer had spread to blood vessels outside the area of the kidney where urine is made, such as the renal sinus. Stage III In stage III, cancer remains in the abdomen after surgery and one of the following may be true: - Cancer has spread to lymph nodes in the abdomen or pelvis (the part of the body between the hips). - Cancer has spread to or through the surface of the peritoneum (the layer of tissue that lines the abdominal cavity and covers most organs in the abdomen). - A biopsy of the tumor was done before it was removed. - The tumor broke open before or during surgery to remove it. - The tumor was removed in more than one piece. - Cancer cells are found at the edges of the area where the tumor was removed. - The entire tumor could not be removed because important organs or tissues in the body would be damaged. Stage IV In stage IV, cancer has spread through the blood to organs such as the lungs, liver, bone, or brain, or to lymph nodes outside of the abdomen and pelvis. Stage V In stage V, cancer cells are found in both kidneys when the cancer is first diagnosed. + + + The treatment of other childhood kidney tumors depends on the tumor type.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +What are the treatments for Wilms Tumor and Other Childhood Kidney Tumors ?,"Key Points + - There are different types of treatment for patients with Wilms tumor and other childhood kidney tumors. - Children with Wilms tumor or other childhood kidney tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Some cancer treatments cause side effects months or years after treatment has ended. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - High-dose chemotherapy with stem cell rescue - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with Wilms tumor and other childhood kidney tumors. + Different types of treatment are available for children with Wilms and other childhood kidney tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with Wilms tumor or other childhood kidney tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Your child's treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with Wilms tumor or other childhood kidney tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric surgeon or urologist. - Radiation oncologist. - Rehabilitation specialist. - Pediatric nurse specialist. - Social worker. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems, such as heart problems, kidney problems, or problems during pregnancy. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer), such as cancer of the gastrointestinal tract or breast cancer. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary about Late Effects of Treatment for Childhood Cancer for more information). Clinical trials are being done to find out if lower doses of chemotherapy and radiation can be used to lessen the late effects of treatment without changing how well the treatment works. + + + Five types of standard treatment are used: + Surgery Two types of surgery are used to treat kidney tumors: - Nephrectomy: Wilms tumor and other childhood kidney tumors are usually treated with nephrectomy (surgery to remove the whole kidney). Nearby lymph nodes may also be removed and checked for signs of cancer. Sometimes a kidney transplant (surgery to remove the kidney and replace it with a kidney from a donor) is done when the cancer is in both kidneys and the kidneys are not working well. - Partial nephrectomy: If cancer is found in both kidneys or is likely to spread to both kidneys, surgery may include a partial nephrectomy (removal of the cancer in the kidney and a small amount of normal tissue around it). Partial nephrectomy is done to keep as much of the kidney working as possible. A partial nephrectomy is also called renal-sparing surgery. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk of the cancer coming back, is called adjuvant therapy. Sometimes, a second-look surgery is done to see if cancer remains after chemotherapy or radiation therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated and whether a biopsy was done before surgery to remove the tumor. External radiation therapy is used to treat Wilms tumor and other childhood kidney tumors. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using two or more anticancer drugs. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Systemic chemotherapy is used to treat Wilms tumor and other childhood kidney tumors. Sometimes the tumor cannot be removed by surgery for one of the following reasons: - The tumor is too close to important organs or blood vessels. - The tumor is too large to remove. - The cancer is in both kidneys. - There is a blood clot in the vessels near the liver. - The patient has trouble breathing because cancer has spread to the lungs. In this case, a biopsy is done first. Then chemotherapy is given to reduce the size of the tumor before surgery, in order to save as much healthy tissue as possible and lessen problems after surgery. This is called neoadjuvant chemotherapy. Radiation therapy is given after surgery. See Drugs Approved for Wilms Tumor and Other Childhood Kidney Cancers for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon and interleukin-2 (IL-2) are types of biologic therapy used to treat childhood renal cell cancer. Interferon affects the division of cancer cells and can slow tumor growth. IL-2 boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These re-infused stem cells grow into (and restore) the body's blood cells. High-dose chemotherapy with stem cell rescue may be used to treat recurrent Wilms tumor. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Wilms Tumor + + + Stage I Wilms Tumor + Treatment of stage I Wilms tumor with favorable histology may include: - Nephrectomy with removal of lymph nodes, followed by combination chemotherapy. - A clinical trial of nephrectomy only. Treatment of stage I anaplastic Wilms tumor may include: - Nephrectomy with removal of lymph nodes followed by combination chemotherapy and radiation therapy to the flank area (either side of the body between the ribs and hipbone). Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I Wilms tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Stage II Wilms Tumor + Treatment of stage II Wilms tumor with favorable histology may include: - Nephrectomy with removal of lymph nodes, followed by combination chemotherapy. Treatment of stage II anaplastic Wilms tumor may include: - Nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen and combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II Wilms tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Stage III Wilms Tumor + Treatment of stage III Wilms tumor with favorable histology may include: - Nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen and combination chemotherapy. Treatment of stage III anaplastic Wilms tumor may include: - Nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen and combination chemotherapy. - Combination chemotherapy followed by nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III Wilms tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Stage IV Wilms Tumor + Treatment of stage IV Wilms tumor with favorable histology may include: - Nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen and combination chemotherapy. If cancer has spread to other parts of the body, patients will also receive radiation therapy to those areas. Treatment of stage IV anaplastic Wilms tumor may include: - Nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen and combination chemotherapy. If cancer has spread to other parts of the body, patients will also receive radiation therapy to those areas. - Combination chemotherapy given before nephrectomy with removal of lymph nodes, followed by radiation therapy to the abdomen. If cancer has spread to other parts of the body, patients will also receive radiation therapy to those areas. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV Wilms tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Stage V Wilms Tumor and patients at high risk of developing bilateral Wilms tumor + Treatment of stage V Wilms tumor may be different for each patient and may include: - Combination chemotherapy to shrink the tumor, followed by repeat imaging at 4 to 8 weeks to decide on further therapy (partial nephrectomy, biopsy, continued chemotherapy, and/or radiation therapy). - A biopsy of the kidneys is followed by combination chemotherapy to shrink the tumor. A second surgery is done to remove as much of the cancer as possible. This may be followed by more chemotherapy and/or radiation therapy if cancer remains after surgery. If a kidney transplant is needed because of kidney problems, it is delayed until 1 to 2 years after treatment is completed and there are no signs of cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage V Wilms tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Treatment Options for Other Childhood Kidney Tumors + + + Renal Cell Cancer (RCC) + Treatment of renal cell cancer usually includes: - Surgery, which may be: - nephrectomy with removal of lymph nodes; or - partial nephrectomy with removal of lymph nodes. - Biologic therapy (interferon and interleukin-2) for cancer that has spread to other parts of the body. See the PDQ summary about Renal Cell Cancer Treatment for more information. Check the list of NCI-supported cancer clinical trials that are now accepting patients with renal cell carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Rhabdoid Tumor of the Kidney + There is no standard treatment for rhabdoid tumor of the kidney. Treatment may include: - A combination of surgery, chemotherapy, and/or radiation therapy. - A clinical trial of targeted therapy (tazemetostat). Check the list of NCI-supported cancer clinical trials that are now accepting patients with rhabdoid tumor of the kidney. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Clear Cell Sarcoma of the Kidney + Treatment of clear cell sarcoma of the kidney may include: - Nephrectomy with removal of lymph nodes followed by combination chemotherapy and radiation therapy to the abdomen. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with clear cell sarcoma of the kidney. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Congenital Mesoblastic Nephroma + Treatment for congenital mesoblastic nephroma usually includes: - Surgery that may be followed by chemotherapy. - A clinical trial of targeted therapy (LOXO-101 or entrectinib). Check the list of NCI-supported cancer clinical trials that are now accepting patients with congenital mesoblastic nephroma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Ewing Sarcoma of the Kidney + There is no standard treatment for Ewing sarcoma of the kidney. Treatment may include: - A combination of surgery, chemotherapy, and radiation therapy. It may also be treated in the same way that Ewing sarcoma is treated. See the PDQ summary about Ewing Sarcoma Treatment for more information. Check the list of NCI-supported cancer clinical trials that are now accepting patients with Ewing sarcoma/peripheral primitive neuroectodermal tumor (PNET). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Primary Renal Myoepithelial Carcinoma + There is no standard treatment for primary renal myoepithelial carcinoma. Treatment may include: - A combination of surgery, chemotherapy, and radiation therapy. + + + Cystic Partially Differentiated Nephroblastoma + Treatment of cystic partially differentiated nephroblastoma may include: - Surgery that may be followed by chemotherapy. + + + Multilocular Cystic Nephroma + Treatment of multilocular cystic nephroma usually includes: - Surgery. + + + Primary Renal Synovial Sarcoma + Treatment of primary renal synovial sarcoma usually includes: - Chemotherapy. + + + Anaplastic Sarcoma of the Kidney + There is no standard treatment for anaplastic sarcoma of the kidney. Treatment is usually the same treatment given for anaplastic Wilms tumor. + + + Nephroblastomatosis (Diffuse Hyperplastic Perilobar Nephroblastomatosis) + The treatment of nephroblastomatosis depends on the following: - Whether the child has abnormal groups of cells in one or both kidneys. - Whether the child has Wilms tumor in one kidney and groups of abnormal cells in the other kidney. Treatment of nephroblastomatosis may include: - Chemotherapy followed by nephrectomy. Sometimes a partial nephrectomy may be done to keep as much kidney function as possible.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +what research (or clinical trials) is being done for Wilms Tumor and Other Childhood Kidney Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy used to treat childhood kidney tumors may include the following: - Monoclonal antibodies: This targeted therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Lorvotuzumab is being studied in the treatment of recurrent Wilms tumor. - Kinase inhibitors: This targeted therapy blocks signals that cancer cells need to grow and divide. LOXO-101 and entrectinib are kinase inhibitors being studied to treat congenital mesoblastic nephroma. - Histone methyltransferase inhibitors: This targeted therapy slows down the cancer cell's ability to grow and divide. Tazemetostat is being studied in the treatment of rhabdoid tumor of the kidney. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Wilms Tumor and Other Childhood Kidney Tumors +What is (are) Anal Cancer ?,"Key Points + - Anal cancer is a disease in which malignant (cancer) cells form in the tissues of the anus. - Squamous cell carcinoma is the most common type of anal cancer. - In the United States, the number of new cases of anal cancer has increased in recent years. + + + Anal cancer is a disease in which malignant (cancer) cells form in the tissues of the anus. + The anus is the end of the large intestine, below the rectum, through which stool (solid waste) leaves the body. The anus is formed partly from the outer skin layers of the body and partly from the intestine. Two ring-like muscles, called sphincter muscles, open and close the anal opening and let stool pass out of the body. The anal canal, the part of the anus between the rectum and the anal opening, is about 1-1 inches long. The skin around the outside of the anus is called the perianal area. Tumors in this area are skin tumors, not anal cancer. See the following PDQ summary for more information about anal cancer: - Anal Cancer Treatment + + + Squamous cell carcinoma is the most common type of anal cancer. + In the United States, the most common type of anal cancer is squamous cell carcinoma. Studies show that human papillomavirus (HPV) infection is the main cause of this type of anal cancer. Another type of anal cancer, called anal adenocarcinoma, is very rare and is not discussed in this summary. + + + In the United States, the number of new cases of anal cancer has increased in recent years. + From 2004 to 2013, new cases of anal cancer and deaths from anal cancer increased each year. The increase in new cases was slightly higher in women and the increase in deaths from anal cancer was slightly higher in men.",CancerGov,Anal Cancer +Who is at risk for Anal Cancer? ?,"Being infected with the human papillomavirus (HPV) increases the risk of developing anal cancer. Risk factors include the following: - Being infected with human papillomavirus (HPV). - Having many sexual partners. - Having receptive anal intercourse (anal sex). - Being older than 50 years. - Frequent anal redness, swelling, and soreness. - Having anal fistulas (abnormal openings). - Smoking cigarettes.",CancerGov,Anal Cancer +What are the symptoms of Anal Cancer ?,Signs of anal cancer include bleeding from the anus or rectum or a lump near the anus. These and other signs and symptoms may be caused by anal cancer or by other conditions. Check with your doctor if you have any of the following: - Bleeding from the anus or rectum. - Pain or pressure in the area around the anus. - Itching or discharge from the anus. - A lump near the anus. - A change in bowel habits.,CancerGov,Anal Cancer +How to diagnose Anal Cancer ?,"Tests that examine the rectum and anus are used to detect (find) and diagnose anal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal examination (DRE): An exam of the anus and rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. - Anoscopy: An exam of the anus and lower rectum using a short, lighted tube called an anoscope. - Proctoscopy : An exam of the rectum using a short, lighted tube called a proctoscope. - Endo-anal or endorectal ultrasound : A procedure in which an ultrasound transducer (probe) is inserted into the anus or rectum and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If an abnormal area is seen during the anoscopy, a biopsy may be done at that time.",CancerGov,Anal Cancer +What is the outlook for Anal Cancer ?,Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The size of the tumor. - Where the tumor is in the anus. - Whether the cancer has spread to the lymph nodes. The treatment options depend on the following: - The stage of the cancer. - Where the tumor is in the anus. - Whether the patient has human immunodeficiency virus (HIV). - Whether cancer remains after initial treatment or has recurred.,CancerGov,Anal Cancer +What are the stages of Anal Cancer ?,"Key Points + - After anal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the anus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for anal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IV + + + After anal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the anus or to other parts of the body. + The process used to find out if cancer has spread within the anus or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen or chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For anal cancer, a CT scan of the pelvis and abdomen may be done. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if anal cancer spreads to the lung, the cancer cells in the lung are actually anal cancer cells. The disease is metastatic anal cancer, not lung cancer. + + + The following stages are used for anal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the innermost lining of the anus. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the tumor is 2 centimeters or smaller. Stage II In stage II, the tumor is larger than 2 centimeters. Stage IIIA In stage IIIA, the tumor may be any size and has spread to either: - lymph nodes near the rectum; or - nearby organs, such as the vagina, urethra, and bladder. Stage IIIB In stage IIIB, the tumor may be any size and has spread: - to nearby organs and to lymph nodes near the rectum; or - to lymph nodes on one side of the pelvis and/or groin, and may have spread to nearby organs; or - to lymph nodes near the rectum and in the groin, and/or to lymph nodes on both sides of the pelvis and/or groin, and may have spread to nearby organs. Stage IV In stage IV, the tumor may be any size and cancer may have spread to lymph nodes or nearby organs and has spread to distant parts of the body.",CancerGov,Anal Cancer +what research (or clinical trials) is being done for Anal Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Anal Cancer +What are the treatments for Anal Cancer ?,"Key Points + - There are different types of treatment for patients with anal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - Having the human immunodeficiency virus can affect treatment of anal cancer. - New types of treatment are being tested in clinical trials. - Radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with anal cancer. + Different types of treatments are available for patients with anal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat anal cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Surgery - Local resection: A surgical procedure in which the tumor is cut from the anus along with some of the healthy tissue around it. Local resection may be used if the cancer is small and has not spread. This procedure may save the sphincter muscles so the patient can still control bowel movements. Tumors that form in the lower part of the anus can often be removed with local resection. - Abdominoperineal resection: A surgical procedure in which the anus, the rectum, and part of the sigmoid colon are removed through an incision made in the abdomen. The doctor sews the end of the intestine to an opening, called a stoma, made in the surface of the abdomen so body waste can be collected in a disposable bag outside of the body. This is called a colostomy. Lymph nodes that contain cancer may also be removed during this operation. + + + Having the human immunodeficiency virus can affect treatment of anal cancer. + Cancer therapy can further damage the already weakened immune systems of patients who have the human immunodeficiency virus (HIV). For this reason, patients who have anal cancer and HIV are usually treated with lower doses of anticancer drugs and radiation than patients who do not have HIV. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 is usually local resection. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Anal Cancer + Treatment of stage I anal cancer may include the following: - Local resection. - External-beam radiation therapy with or without chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with radiation therapy and chemotherapy. - Internal radiation therapy for cancer that remains after treatment with external-beam radiation therapy. Patients who have had treatment that saves the sphincter muscles may receive follow-up exams every 3 months for the first 2 years, including rectal exams with endoscopy and biopsy, as needed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Anal Cancer + Treatment of stage II anal cancer may include the following: - Local resection. - External-beam radiation therapy with chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with radiation therapy and chemotherapy. - A clinical trial of new treatment options. Patients who have had treatment that saves the sphincter muscles may receive follow-up exams every 3 months for the first 2 years, including rectal exams with endoscopy and biopsy, as needed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIA Anal Cancer + Treatment of stage IIIA anal cancer may include the following: - External-beam radiation therapy with chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with chemotherapy and radiation therapy. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIA anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIB Anal Cancer + Treatment of stage IIIB anal cancer may include the following: - External-beam radiation therapy with chemotherapy. - Local resection or abdominoperineal resection, if cancer remains or comes back after treatment with chemotherapy and radiation therapy. Lymph nodes may also be removed. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIB anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Anal Cancer + Treatment of stage IV anal cancer may include the following: - Surgery as palliative therapy to relieve symptoms and improve the quality of life. - Radiation therapy as palliative therapy. - Chemotherapy with radiation therapy as palliative therapy. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Anal Cancer +What is (are) Childhood Extracranial Germ Cell Tumors ?,"Key Points + - Childhood extracranial germ cell tumors form from germ cells in parts of the body other than the brain. - Childhood extracranial germ cell tumors may be benign or malignant. - There are three types of extracranial germ cell tumors. - Mature Teratomas - Immature Teratomas - Malignant Germ Cell Tumors - Childhood extracranial germ cell tumors are grouped as gonadal or extragonadal. - Gonadal Germ Cell Tumors - Extragonadal Extracranial Germ Cell Tumors - The cause of most childhood extracranial germ cell tumors is unknown. - Having certain inherited disorders can increase the risk of an extracranial germ cell tumor. - Signs of childhood extracranial germ cell tumors depend on the type of tumor and where it is in the body. - Imaging studies and blood tests are used to detect (find) and diagnose childhood extracranial germ cell tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood extracranial germ cell tumors form from germ cells in parts of the body other than the brain. + A germ cell is a type of cell that forms as a fetus (unborn baby) develops. These cells later become sperm in the testicles or eggs in the ovaries. Sometimes while the fetus is forming, germ cells travel to parts of the body where they should not be and grow into a germ cell tumor. The tumor may form before or after birth. This summary is about germ cell tumors that form in parts of the body that are extracranial (outside the brain). Extracranial germ cell tumors usually form in the following areas of the body: - Testicles. - Ovaries. - Sacrum or coccyx (bottom part of the spine). - Retroperitoneum (the back wall of the abdomen). - Mediastinum (area between the lungs). Extracranial germ cell tumors are most common in adolescents 15 to 19 years of age. See the PDQ summary on Childhood Central Nervous System Germ Cell Tumors Treatment for information on intracranial (inside the brain) germ cell tumors. + + + Childhood extracranial germ cell tumors may be benign or malignant. + Extracranial germ cell tumors may be benign (noncancer) or malignant (cancer). + + + There are three types of extracranial germ cell tumors. + Extracranial germ cell tumors are grouped into mature teratomas, immature teratomas, and malignant germ cell tumors: Mature Teratomas Mature teratomas are the most common type of extracranial germ cell tumor. Mature teratomas are benign tumors and not likely to become cancer. They usually occur in the sacrum or coccyx (bottom part of the spine) in newborns or in the ovaries of girls at the start of puberty. The cells of mature teratomas look almost like normal cells under a microscope. Some mature teratomas release enzymes or hormones that cause signs and symptoms of disease. Immature Teratomas Immature teratomas also usually occur in the sacrum or coccyx (bottom part of the spine) in newborns or the ovaries of girls at the start of puberty. Immature teratomas have cells that look very different from normal cells under a microscope. Immature teratomas may be cancer. They often have several different types of tissue in them, such as hair, muscle, and bone. Some immature teratomas release enzymes or hormones that cause signs and symptoms of disease. Malignant Germ Cell Tumors Malignant germ cell tumors are cancer. There are two main types of malignant germ cell tumors: - Germinomas: Tumors that make a hormone called beta-human chorionic gonadotropin (-hCG). There are three types of germinomas. - Dysgerminomas form in the ovary in girls. - Seminomas form in the testicle in boys. - Germinomas form in areas of the body that are not the ovary or testicle. - Nongerminomas: There are four types of nongerminomas. - Yolk sac tumors make a hormone called alpha-fetoprotein (AFP). They can form in the ovary, testicle, or other areas of the body. - Choriocarcinomas make a hormone called beta-human chorionic gonadotropin (-hCG). They can form in the ovary, testicle, or other areas of the body. - Embryonal carcinomas may make a hormone called -hCG and/or a hormone called AFP. They can form in the testicle or other parts of the body, but not in the ovary. - Mixed germ cell tumors are made up of both malignant germ cell tumor and teratoma. They can form in the ovary, testicle, or other areas of the body. + + + Childhood extracranial germ cell tumors are grouped as gonadal or extragonadal. + Malignant extracranial germ cell tumors are gonadal or extragonadal. Gonadal Germ Cell Tumors Gonadal germ cell tumors form in the testicles in boys or ovaries in girls. Testicular Germ Cell Tumors Testicular germ cell tumors are divided into two main types, seminoma and nonseminoma. - Seminomas make a hormone called beta-human chorionic gonadotropin (-hCG). - Nonseminomas are usually large and cause signs or symptoms. They tend to grow and spread more quickly than seminomas. Testicular germ cell tumors usually occur before the age of 4 years or in adolescents and young adults. Testicular germ cell tumors in adolescents and young adults are different from those that form in early childhood. Boys older than 14 years with testicular germ cell tumors are treated in pediatric cancer centers, but the treatment is much like the treatment used in adults. (See the PDQ summary on Testicular Cancer Treatment for more information.) Ovarian Germ Cell Tumors Ovarian germ cell tumors are more common in adolescent girls and young women. Most ovarian germ cell tumors are benign teratomas. Sometimes immature teratomas, dysgerminomas, yolk sac tumors, and mixed germ cell tumors (cancer) occur. (See the PDQ summary on Ovarian Germ Cell Tumors Treatment for more information.) Extragonadal Extracranial Germ Cell Tumors Extragonadal extracranial germ cell tumors form in areas other than the brain, testicles, or ovaries. Most extragonadal extracranial germ cell tumors form along the midline of the body. This includes the following: - Sacrum (the large, triangle-shaped bone in the lower spine that forms part of the pelvis). - Coccyx (the small bone at the bottom of the spine, also called the tailbone). - Mediastinum (the area between the lungs). - Back of the abdomen. - Neck. In younger children, extragonadal extracranial germ cell tumors usually occur at birth or in early childhood. Most of these tumors are teratomas in the sacrum or coccyx. In older children, adolescents, and young adults, extragonadal extracranial germ cell tumors are often in the mediastinum.",CancerGov,Childhood Extracranial Germ Cell Tumors +What causes Childhood Extracranial Germ Cell Tumors ?,The cause of most childhood extracranial germ cell tumors is unknown.,CancerGov,Childhood Extracranial Germ Cell Tumors +Who is at risk for Childhood Extracranial Germ Cell Tumors? ?,Having certain inherited disorders can increase the risk of an extracranial germ cell tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Possible risk factors for extracranial germ cell tumors include the following: - Having certain genetic syndromes: - Klinefelter syndrome may increase the risk of germ cell tumors in the mediastinum. - Swyer syndrome may increase the risk of germ cell tumors in the testicles or ovaries. - Turner syndrome may increase the risk of germ cell tumors in the ovaries. - Having an undescended testicle may increase the risk of developing a testicular germ cell tumor.,CancerGov,Childhood Extracranial Germ Cell Tumors +What are the symptoms of Childhood Extracranial Germ Cell Tumors ?,"Signs of childhood extracranial germ cell tumors depend on the type of tumor and where it is in the body. Different tumors may cause the following signs and symptoms. Other conditions may cause these same signs and symptoms. Check with a doctor if your child has any of the following: - A lump in the abdomen or lower back. - A painless lump in the testicle. - Pain in the abdomen. - Fever. - Constipation. - In females, no menstrual periods. - In females, unusual vaginal bleeding.",CancerGov,Childhood Extracranial Germ Cell Tumors +How to diagnose Childhood Extracranial Germ Cell Tumors ?,"Imaging studies and blood tests are used to detect (find) and diagnose childhood extracranial germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a sample of blood is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. Most malignant germ cell tumors release tumor markers. The following tumor markers are used to detect extracranial germ cell tumors: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). For testicular germ cell tumors, blood levels of the tumor markers help show if the tumor is a seminoma or nonseminoma. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. In some cases, the tumor is removed during surgery and then a biopsy is done. The following tests may be done on the sample of tissue that is removed: - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.",CancerGov,Childhood Extracranial Germ Cell Tumors +What is the outlook for Childhood Extracranial Germ Cell Tumors ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The type of germ cell tumor. - Where the tumor first began to grow. - The stage of the cancer (whether it has spread to nearby areas or to other places in the body). - How well the tumor responds to treatment (lower AFP and -hCG levels). - Whether the tumor can be completely removed by surgery. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). The prognosis for childhood extracranial germ cell tumors, especially ovarian germ cell tumors, is good.",CancerGov,Childhood Extracranial Germ Cell Tumors +What are the stages of Childhood Extracranial Germ Cell Tumors ?,"Key Points + - After a childhood extracranial germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread from where the tumor started to nearby areas or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Stages are used to describe the different types of extracranial germ cell tumors. - Childhood nonseminoma testicular germ cell tumors - Childhood ovarian germ cell tumors - Childhood extragonadal extracranial germ cell tumors + + + After a childhood extracranial germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread from where the tumor started to nearby areas or to other parts of the body. + The process used to find out if cancer has spread from where the tumor started to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. In some cases, staging may follow surgery to remove the tumor. The following procedures may be used: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the lymph nodes. This procedure is also called nuclear magnetic resonance imaging. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest or lymph nodes, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - Paracentesis : The removal of fluid from the space between the lining of the abdomen and the organs in the abdomen, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. The results from tests and procedures used to detect and diagnose childhood extracranial germ cell tumors may also be used in staging. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if an extracranial germ cell tumor spreads to the liver, the cancer cells in the liver are actually cancerous germ cells. The disease is metastatic extracranial germ cell tumor, not liver cancer. + + + Stages are used to describe the different types of extracranial germ cell tumors. + Childhood nonseminoma testicular germ cell tumors - Stage I: In stage I, the cancer is found in the testicle only and is completely removed by surgery. - Stage II: In stage II, the cancer is removed by surgery and some cancer cells remain in the scrotum or cancer that can be seen with a microscope only has spread to the scrotum or spermatic cord. Tumor marker levels do not return to normal after surgery or the tumor marker levels increase. - Stage III: In stage III, the cancer has spread to one or more lymph nodes in the abdomen and is not completely removed by surgery. The cancer that remains after surgery can be seen without a microscope. - Stage IV: In stage IV, the cancer has spread to distant parts of the body such as the liver, brain, bone, or lung. Childhood ovarian germ cell tumors There are two types of stages used for childhood ovarian germ cell tumors. The following stages are from the Children's Oncology Group: - Stage I: In stage I, the cancer is in the ovary and can be completely removed by surgery and the capsule (outer covering) of the ovary has not ruptured (broken open). - Stage II: In stage II, one of the following is true: - The cancer is not completely removed by surgery. The remaining cancer can be seen with a microscope only. - The cancer has spread to the lymph nodes and can be seen with a microscope only. - The cancer has spread to the capsule (outer covering) of the ovary. - Stage III: In stage III, one of the following is true: - The cancer is not completely removed by surgery. The remaining cancer can be seen without a microscope. - The cancer has spread to lymph nodes and the lymph nodes are 2 centimeters or larger. Cancer in the lymph nodes can be seen without a microscope. - The cancer is found in fluid in the abdomen. - Stage IV: In stage IV, the cancer has spread to the lung, liver, brain, or bone. The following stages are from the International Federation of Gynecology and Obstetrics (FIGO): - Stage I: In stage I, cancer is found in one or both of the ovaries and has not spread. Stage I is divided into stage IA, stage IB, and stage IC. - Stage IA: Cancer is found in one ovary. - Stage IB: Cancer is found in both ovaries. - Stage IC: Cancer is found in one or both ovaries and one of the following is true: - cancer is found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the tumor has ruptured (broken open); or - cancer cells are found in fluid that has collected in the abdomen; or - cancer cells are found in washings of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen). - Stage II: In stage II, cancer is found in one or both ovaries and has spread into other areas of the pelvis. Stage II is divided into stage IIA, stage IIB, and stage IIC. - Stage IIA: Cancer has spread to the uterus and/or the fallopian tubes (the long slender tubes through which eggs pass from the ovaries to the uterus). - Stage IIB: Cancer has spread to other tissue within the pelvis such as the bladder, rectum, or vagina. - Stage IIC: Cancer has spread to the uterus and/or fallopian tubes and/or other tissue within the pelvis and one of the following is true: - cancer is found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the tumor has ruptured (broken open); or - cancer cells are found in fluid that has collected in the abdomen; or - cancer cells are found in washings of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen). - Stage III: In stage III, cancer is found in one or both ovaries and has spread to other parts of the abdomen. Cancer that has spread to the surface of the liver is also stage III disease. Stage III is divided into stage IIIA, stage IIIB, and stage IIIC: - Stage IIIA: The tumor is found in the pelvis only, but cancer cells that can only be seen with a microscope have spread to the surface of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen) or to the small bowel. - Stage IIIB: Cancer has spread to the peritoneum and is 2 centimeters or smaller in diameter. - Stage IIIC: Cancer has spread to the peritoneum and is larger than 2 centimeters in diameter and/or has spread to lymph nodes in the abdomen. - Stage IV: In stage IV, cancer is found in one or both ovaries and has metastasized (spread) beyond the abdomen to other parts of the body. Cancer that has spread to tissues in the liver is also stage IV disease. Childhood extragonadal extracranial germ cell tumors - Stage I: In stage I, the cancer is in one place and can be completely removed by surgery. For tumors in the sacrum or coccyx (bottom part of the spine), the sacrum and coccyx are completely removed by surgery. Tumor marker levels return to normal after surgery. - Stage II: In stage II, the cancer has spread to the capsule (outer covering) and/or lymph nodes. The cancer is not completely removed by surgery and the cancer remaining after surgery can be seen with a microscope only. Tumor marker levels do not return to normal after surgery or increase. - Stage III: In stage III, one of the following is true: - The cancer is not completely removed by surgery. The cancer remaining after surgery can be seen without a microscope. - The cancer has spread to lymph nodes and is larger than 2 centimeters in diameter. - Stage IV: In stage IV, the cancer has spread to distant parts of the body, including the liver, brain, bone, or lung.",CancerGov,Childhood Extracranial Germ Cell Tumors +What are the treatments for Childhood Extracranial Germ Cell Tumors ?,"Key Points + - There are different types of treatment for children with extracranial germ cell tumors. - Children with extracranial germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Some cancer treatments cause side effects months or years after treatment has ended. - Three types of standard treatment are used: - Surgery - Observation - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Radiation therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with extracranial germ cell tumors. + Different types of treatments are available for children with extracranial germ cell tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with extracranial germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with extracranial germ cell tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric surgeon. - Pediatric hematologist. - Radiation oncologist. - Endocrinologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Child life professional. - Psychologist. - Social worker. - Geneticist. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). For example, late effects of surgery to remove tumors in the sacrum or coccyx include constipation, loss of bowel and bladder control, and scars. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Three types of standard treatment are used: + Surgery Surgery to completely remove the tumor is done whenever possible. If the tumor is very large, chemotherapy may be given first, to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. A goal of surgery is to keep reproductive function. The following types of surgery may be used: - Resection: Surgery to remove tissue or part or all of an organ. - Radical inguinal orchiectomy: Surgery to remove one or both testicles through an incision (cut) in the groin. - Unilateral salpingo-oophorectomy: Surgery to remove one ovary and one fallopian tube on the same side. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. For childhood extracranial germ cell tumors, this includes physical exams, imaging tests, and tumor marker tests. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer and whether it has come back. External radiation therapy is being studied for the treatment of childhood extracranial germ cell tumors that have come back. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. For childhood extracranial germ cell tumors, alpha-fetoprotein (AFP) tests and beta-human chorionic gonadotropin (-hCG) tests are done to see if treatment is working. Continued high levels of AFP or -hCG may mean the cancer is still growing. For at least 3 years after surgery, follow-up will include regular physical exams, imaging tests, and tumor marker tests. + + + Treatment Options for Childhood Extracranial Germ Cell Tumors + + + Mature and Immature Teratomas + Treatment of mature teratomas that are not in the sacrum or coccyx (bottom part of the spine) includes the following: - Surgery to remove the tumor followed by observation. Treatment of immature teratomas that are not in the sacrum or coccyx includes the following: - Surgery to remove the tumor followed by observation for stage I tumors. - Surgery to remove the tumor for stage IIIV tumors. Treatment of immature teratomas that are in the sacrum or coccyx includes the following: - Surgery (removal of the sacrum and coccyx) followed by observation. Sometimes a mature or immature teratoma also has malignant cells. The teratoma and malignant cells may need to be treated differently. Regular follow-up exams with imaging tests and the alpha-fetoprotein (AFP) tumor marker test will be done for at least 3 years. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood teratoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Malignant Gonadal Germ Cell Tumors + Malignant Testicular Germ Cell Tumors Treatment of malignant testicular germ cell tumors may include the following: For boys younger than 15 years: - Surgery (radical inguinal orchiectomy) followed by observation for stage I tumors. - Surgery (radical inguinal orchiectomy) followed by combination chemotherapy for stage II-IV tumors. A second surgery may be done to remove any tumor remaining after chemotherapy. For boys 15 years and older: Malignant testicular germ cell tumors in boys 15 years and older are treated differently than they are in young boys. Surgery may include removal of lymph nodes in the abdomen. (See the PDQ summary on Testicular Cancer Treatment for more information.) Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood malignant testicular germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. Malignant Ovarian Germ Cell Tumors Dysgerminomas Treatment of stage I dysgerminomas in young girls may include the following: - Surgery (unilateral salpingo-oophorectomy) followed by observation. Combination chemotherapy may be given if the tumor comes back. Treatment of stages IIIV dysgerminomas in young girls may include the following: - Surgery (unilateral salpingo-oophorectomy) followed by combination chemotherapy. - Combination chemotherapy to shrink the tumor, followed by surgery (unilateral salpingo-oophorectomy). Nongerminomas Treatment of stage I nongerminomas in young girls may include the following: - Surgery followed by observation. - Surgery followed by combination chemotherapy. Treatment of stages IIIV nongerminomas in young girls may include the following: - Surgery followed by combination chemotherapy. A second surgery may be done to remove any remaining cancer. - Biopsy followed by combination chemotherapy to shrink the tumor and sometimes surgery for tumors that cannot be removed by surgery when cancer is diagnosed. The treatment for adolescents and young adults with ovarian germ cell tumor is much like the treatment for adults. (See the PDQ treatment summary on Ovarian Germ Cell Tumors for more information.) Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood malignant ovarian germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Malignant Extragonadal Extracranial Germ Cell Tumors + Treatment of childhood malignant extragonadal extracranial germ cell tumors may include the following: - Combination chemotherapy to shrink the tumor followed by surgery to remove the sacrum and coccyx (bottom part of the spine) for tumors that are in the sacrum or coccyx. - Combination chemotherapy to shrink the tumor followed by surgery to remove tumors that are in the mediastinum. - Biopsy followed by combination chemotherapy to shrink the tumor and surgery to remove tumors that are in the abdomen. - Surgery to remove the tumor followed by combination chemotherapy for tumors of the head and neck. Treatment of malignant extragonadal extracranial germ cell tumors in places not already described includes the following: - Surgery followed by combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood extragonadal germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Malignant Extracranial Germ Cell Tumors + There is no standard treatment for recurrent childhood malignant extracranial germ cell tumors. Treatment depends on the following: - The type of treatment given when the cancer was diagnosed. - How the tumor responded to the initial treatment. Treatment is usually within a clinical trial and may include the following: - Surgery. - Surgery followed by combination chemotherapy, for most malignant extracranial germ cell tumors including immature teratomas, malignant testicular germ cell tumors, and malignant ovarian germ cell tumors. - Surgery for tumors that come back in the sacrum or coccyx (bottom part of the spine), if surgery to remove the sacrum and coccyx was not done when the cancer was diagnosed. Chemotherapy may be given before surgery, to shrink the tumor. If any tumor remains after surgery, radiation therapy may also be given. - Combination chemotherapy for stage I malignant testicular germ cell tumors and stage I ovarian dysgerminomas. - High-dose chemotherapy and stem cell transplant. - Radiation therapy followed by surgery to remove the tumor in the brain for cancer that has spread to the brain. - A clinical trial of combination chemotherapy alone compared with high-dose chemotherapy followed by stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood malignant germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Extracranial Germ Cell Tumors +what research (or clinical trials) is being done for Childhood Extracranial Germ Cell Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer and whether it has come back. External radiation therapy is being studied for the treatment of childhood extracranial germ cell tumors that have come back. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Extracranial Germ Cell Tumors +What is (are) Uterine Sarcoma ?,"Key Points + - Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. - Being exposed to x-rays can increase the risk of uterine sarcoma. - Signs of uterine sarcoma include abnormal bleeding. - Tests that examine the uterus are used to detect (find) and diagnose uterine sarcoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. + The uterus is part of the female reproductive system. The uterus is the hollow, pear-shaped organ in the pelvis, where a fetus grows. The cervix is at the lower, narrow end of the uterus, and leads to the vagina. Uterine sarcoma is a very rare kind of cancer that forms in the uterine muscles or in tissues that support the uterus. (Information about other types of sarcomas can be found in the PDQ summary on Adult Soft Tissue Sarcoma Treatment.) Uterine sarcoma is different from cancer of the endometrium, a disease in which cancer cells start growing inside the lining of the uterus. (See the PDQ summary on Endometrial Cancer Treatment for information).",CancerGov,Uterine Sarcoma +Who is at risk for Uterine Sarcoma? ?,"Being exposed to x-rays can increase the risk of uterine sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for uterine sarcoma include the following: - Past treatment with radiation therapy to the pelvis. - Treatment with tamoxifen for breast cancer. If you are taking this drug, have a pelvic exam every year and report any vaginal bleeding (other than menstrual bleeding) as soon as possible.",CancerGov,Uterine Sarcoma +What are the symptoms of Uterine Sarcoma ?,Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. - Bleeding after menopause. - A mass in the vagina. - Pain or a feeling of fullness in the abdomen. - Frequent urination.,CancerGov,Uterine Sarcoma +How to diagnose Uterine Sarcoma ?,"Tests that examine the uterus are used to detect (find) and diagnose uterine sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam: An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Pap test: A procedure to collect cells from the surface of the cervix and vagina. A piece of cotton, a brush, or a small wooden stick is used to gently scrape cells from the cervix and vagina. The cells are viewed under a microscope to find out if they are abnormal. This procedure is also called a Pap smear. Because uterine sarcoma begins inside the uterus, this cancer may not show up on the Pap test. - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram. - Dilatation and curettage : A procedure to remove samples of tissue from the inner lining of the uterus. The cervix is dilated and a curette (spoon-shaped instrument) is inserted into the uterus to remove tissue. The tissue samples are checked under a microscope for signs of disease. This procedure is also called a D&C. - Endometrial biopsy : The removal of tissue from the endometrium (inner lining of the uterus) by inserting a thin, flexible tube through the cervix and into the uterus. The tube is used to gently scrape a small amount of tissue from the endometrium and then remove the tissue samples. A pathologist views the tissue under a microscope to look for cancer cells.",CancerGov,Uterine Sarcoma +What is the outlook for Uterine Sarcoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type and size of the tumor. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Uterine Sarcoma +What are the stages of Uterine Sarcoma ?,"Key Points + - After uterine sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. - Uterine sarcoma may be diagnosed, staged, and treated in the same surgery. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for uterine sarcoma: - Stage I - Stage II - Stage III - Stage IV + + + After uterine sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. + The process used to find out if cancer has spread within the uterus or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CA 125 assay : A test that measures the level of CA 125 in the blood. CA 125 is a substance released by cells into the bloodstream. An increased CA 125 level is sometimes a sign of cancer or other condition. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues to show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Cystoscopy : A procedure to look inside the bladder and urethra to check for abnormal areas. A cystoscope is inserted through the urethra into the bladder. A cystoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. + + + Uterine sarcoma may be diagnosed, staged, and treated in the same surgery. + Surgery is used to diagnose, stage, and treat uterine sarcoma. During this surgery, the doctor removes as much of the cancer as possible. The following procedures may be used to diagnose, stage, and treat uterine sarcoma: - Laparotomy: A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. The size of the incision depends on the reason the laparotomy is being done. Sometimes organs are removed or tissue samples are taken and checked under a microscope for signs of disease. - Abdominal and pelvic washings: A procedure in which a saline solution is placed into the abdominal and pelvic body cavities. After a short time, the fluid is removed and viewed under a microscope to check for cancer cells. - Total abdominal hysterectomy: A surgical procedure to remove the uterus and cervix through a large incision (cut) in the abdomen. - Bilateral salpingo-oophorectomy: Surgery to remove both ovaries and both fallopian tubes. - Lymphadenectomy: A surgical procedure in which lymph nodes are removed and checked under a microscope for signs of cancer. For a regional lymphadenectomy, some of the lymph nodes in the tumor area are removed. For a radical lymphadenectomy, most or all of the lymph nodes in the tumor area are removed. This procedure is also called lymph node dissection. Treatment in addition to surgery may be given, as described in the Treatment Option Overview section of this summary. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if uterine sarcoma spreads to the lung, the cancer cells in the lung are actually uterine sarcoma cells. The disease is metastatic uterine sarcoma, not lung cancer. + + + The following stages are used for uterine sarcoma: + Stage I In stage I, cancer is found in the uterus only. Stage I is divided into stages IA and IB, based on how far the cancer has spread. - Stage IA: Cancer is in the endometrium only or less than halfway through the myometrium (muscle layer of the uterus). - Stage IB: Cancer has spread halfway or more into the myometrium. Stage II In stage II, cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. Stage III In stage III, cancer has spread beyond the uterus and cervix, but has not spread beyond the pelvis. Stage III is divided into stages IIIA, IIIB, and IIIC, based on how far the cancer has spread within the pelvis. - Stage IIIA: Cancer has spread to the outer layer of the uterus and/or to the fallopian tubes, ovaries, and ligaments of the uterus. - Stage IIIB: Cancer has spread to the vagina or to the parametrium (connective tissue and fat around the uterus). - Stage IIIC: Cancer has spread to lymph nodes in the pelvis and/or around the aorta (largest artery in the body, which carries blood away from the heart). Stage IV In stage IV, cancer has spread beyond the pelvis. Stage IV is divided into stages IVA and IVB, based on how far the cancer has spread. - Stage IVA: Cancer has spread to the bladder and/or bowel wall. - Stage IVB: Cancer has spread to other parts of the body beyond the pelvis, including the abdomen and/or lymph nodes in the groin.",CancerGov,Uterine Sarcoma +What are the treatments for Uterine Sarcoma ?,"Key Points + - There are different types of treatment for patients with uterine sarcoma. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with uterine sarcoma. + Different types of treatments are available for patients with uterine sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery is the most common treatment for uterine sarcoma, as described in the Stages of Uterine Sarcoma section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat uterine sarcoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances produced by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Uterine Sarcoma + Treatment of stage I uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - Surgery followed by radiation therapy to the pelvis. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Uterine Sarcoma + Treatment of stage II uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - Surgery followed by radiation therapy to the pelvis. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Uterine Sarcoma + Treatment of stage III uterine sarcoma may include the following: - Surgery (total abdominal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy). - A clinical trial of surgery followed by radiation therapy to the pelvis. - A clinical trial of surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Uterine Sarcoma + There is no standard treatment for patients with stage IV uterine sarcoma. Treatment may include a clinical trial using chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV uterine sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Uterine Sarcoma +what research (or clinical trials) is being done for Uterine Sarcoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Uterine Sarcoma +What is (are) Polycythemia Vera ?,"Key Points + - Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera. + + + Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. + In polycythemia vera, the blood becomes thickened with too many red blood cells. The number of white blood cells and platelets may also increase. These extra blood cells may collect in the spleen and cause it to swell. The increased number of red blood cells, white blood cells, or platelets in the blood can cause bleeding problems and make clots form in blood vessels. This can increase the risk of stroke or heart attack. In patients who are older than 65 years or who have a history of blood clots, the risk of stroke or heart attack is higher. Patients also have an increased risk of acute myeloid leukemia or primary myelofibrosis.",CancerGov,Polycythemia Vera +What are the symptoms of Polycythemia Vera ?,"Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - A feeling of pressure or fullness below the ribs on the left side. - Headaches. - Double vision or seeing dark or blind spots that come and go. - Itching all over the body, especially after being in warm or hot water. - Reddened face that looks like a blush or sunburn. - Weakness. - Dizziness. - Weight loss for no known reason.",CancerGov,Polycythemia Vera +How to diagnose Polycythemia Vera ?,"Special blood tests are used to diagnose polycythemia vera. In addition to a complete blood count, bone marrow aspiration and biopsy, and cytogenetic analysis, a serum erythropoietin test is used to diagnose polycythemia vera. In this test, a sample of blood is checked for the level of erythropoietin (a hormone that stimulates new red blood cells to be made). In polycythemia vera, the erythropoietin level would be lower than normal because the body does not need to make more red blood cells.",CancerGov,Polycythemia Vera +What are the treatments for Polycythemia Vera ?,"The purpose of treatment for polycythemia vera is to reduce the number of extra blood cells. Treatment of polycythemia vera may include the following: - Phlebotomy. - Chemotherapy with or without phlebotomy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Low-dose aspirin. Check the list of NCI-supported cancer clinical trials that are now accepting patients with polycythemia vera. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Polycythemia Vera +What is (are) Chronic Myelogenous Leukemia ?,"Key Points + - Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells. - Leukemia may affect red blood cells, white blood cells, and platelets. - Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. - Most people with CML have a gene mutation (change) called the Philadelphia chromosome. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myelogenous leukemia. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells. + Chronic myelogenous leukemia (also called CML or chronic granulocytic leukemia) is a slowly progressing blood and bone marrow disease that usually occurs during or after middle age, and rarely occurs in children. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - Granulocytes (white blood cells) that fight infection and disease. In CML, too many blood stem cells become a type of white blood cell called granulocytes. These granulocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. This summary is about chronic myelogenous leukemia. See the following PDQ summaries for more information about leukemia: - Adult Acute Lymphoblastic Leukemia Treatment - Childhood Acute Lymphoblastic Leukemia Treatment - Adult Acute Myeloid Leukemia Treatment - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment",CancerGov,Chronic Myelogenous Leukemia +What are the symptoms of Chronic Myelogenous Leukemia ?,"Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. These and other signs and symptoms may be caused by CML or by other conditions. Check with your doctor if you have any of the following: - Feeling very tired. - Weight loss for no known reason. - Night sweats. - Fever. - Pain or a feeling of fullness below the ribs on the left side. Sometimes CML does not cause any symptoms at all.",CancerGov,Chronic Myelogenous Leukemia +What are the genetic changes related to Chronic Myelogenous Leukemia ?,"Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Every cell in the body contains DNA (genetic material) that determines how the cell looks and acts. DNA is contained inside chromosomes. In CML, part of the DNA from one chromosome moves to another chromosome. This change is called the Philadelphia chromosome. It results in the bone marrow making an enzyme, called tyrosine kinase, that causes too many stem cells to become white blood cells (granulocytes or blasts). The Philadelphia chromosome is not passed from parent to child.",CancerGov,Chronic Myelogenous Leukemia +How to diagnose Chronic Myelogenous Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myelogenous leukemia.. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. One of the following tests may be done on the samples of blood or bone marrow tissue that are removed: - Cytogenetic analysis: A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes, such as the Philadelphia chromosome. - FISH (fluorescence in situ hybridization): A laboratory technique used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA bind to specific genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Reverse transcriptionpolymerase chain reaction (RTPCR): A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes.",CancerGov,Chronic Myelogenous Leukemia +What is the outlook for Chronic Myelogenous Leukemia ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patients age. - The phase of CML. - The amount of blasts in the blood or bone marrow. - The size of the spleen at diagnosis. - The patients general health.,CancerGov,Chronic Myelogenous Leukemia +What are the stages of Chronic Myelogenous Leukemia ?,"Key Points + - After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. - Chronic myelogenous leukemia has 3 phases. - Chronic phase - Accelerated phase - Blastic phase + + + After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. + Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myelogenous leukemia (CML). Instead, the disease is classified by phase: chronic phase, accelerated phase, or blastic phase. It is important to know the phase in order to plan treatment. The information from tests and procedures done to detect (find) and diagnose chronic myelogenous leukemia is also used to plan treatment. + + + Chronic myelogenous leukemia has 3 phases. + As the amount of blast cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may result in infections, anemia, and easy bleeding, as well as bone pain and pain or a feeling of fullness below the ribs on the left side. The number of blast cells in the blood and bone marrow and the severity of signs or symptoms determine the phase of the disease. Chronic phase In chronic phase CML, fewer than 10% of the cells in the blood and bone marrow are blast cells. Accelerated phase In accelerated phase CML, 10% to 19% of the cells in the blood and bone marrow are blast cells. Blastic phase In blastic phase CML, 20% or more of the cells in the blood or bone marrow are blast cells. When tiredness, fever, and an enlarged spleen occur during the blastic phase, it is called blast crisis.",CancerGov,Chronic Myelogenous Leukemia +what research (or clinical trials) is being done for Chronic Myelogenous Leukemia ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Chronic Myelogenous Leukemia +What are the treatments for Chronic Myelogenous Leukemia ?,"Key Points + - There are different types of treatment for patients with chronic myelogenous leukemia. - Six types of standard treatment are used: - Targeted therapy - Chemotherapy - Biologic therapy - High-dose chemotherapy with stem cell transplant - Donor lymphocyte infusion (DLI) - Surgery - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with chronic myelogenous leukemia. + Different types of treatment are available for patients with chronic myelogenous leukemia (CML). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information about new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Six types of standard treatment are used: + Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Tyrosine kinase inhibitors are targeted therapy drugs used to treat chronic myelogenous leukemia. Imatinib mesylate, nilotinib, dasatinib, and ponatinib are tyrosine kinase inhibitors that are used to treat CML. See Drugs Approved for Chronic Myelogenous Leukemia for more information. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Chronic Myelogenous Leukemia for more information. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. See Drugs Approved for Chronic Myelogenous Leukemia for more information. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. See Drugs Approved for Chronic Myelogenous Leukemia for more information. Donor lymphocyte infusion (DLI) Donor lymphocyte infusion (DLI) is a cancer treatment that may be used after stem cell transplant. Lymphocytes (a type of white blood cell) from the stem cell transplant donor are removed from the donors blood and may be frozen for storage. The donors lymphocytes are thawed if they were frozen and then given to the patient through one or more infusions. The lymphocytes see the patients cancer cells as not belonging to the body and attack them. Surgery Splenectomy is surgery to remove the spleen. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + Treatment Options for Chronic Myelogenous Leukemia + + + Chronic Phase Chronic Myelogenous Leukemia + Treatment of chronic phase chronic myelogenous leukemia may include the following: - Targeted therapy with a tyrosine kinase inhibitor. - High-dose chemotherapy with donor stem cell transplant. - Chemotherapy. - Splenectomy. - A clinical trial of lower-dose chemotherapy with donor stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic phase chronic myelogenous leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Accelerated Phase Chronic Myelogenous Leukemia + Treatment of accelerated phase chronic myelogenous leukemia may include the following: - Donor stem cell transplant. - Targeted therapy with a tyrosine kinase inhibitor. - Tyrosine kinase inhibitor therapy followed by a donor stem cell transplant. - Biologic therapy (interferon) with or without chemotherapy. - High-dose chemotherapy. - Chemotherapy. - Transfusion therapy to replace red blood cells, platelets, and sometimes white blood cells, to relieve symptoms and improve quality of life. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with accelerated phase chronic myelogenous leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Blastic Phase Chronic Myelogenous Leukemia + Treatment of blastic phase chronic myelogenous leukemia may include the following: - Targeted therapy with a tyrosine kinase inhibitor. - Chemotherapy using one or more drugs. - High-dose chemotherapy. - Donor stem cell transplant. - Chemotherapy as palliative therapy to relieve symptoms and improve quality of life. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with blastic phase chronic myelogenous leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Relapsed Chronic Myelogenous Leukemia + Treatment of relapsed chronic myelogenous leukemia may include the following: - Targeted therapy with a tyrosine kinase inhibitor. - Donor stem cell transplant. - Chemotherapy. - Donor lymphocyte infusion. - Biologic therapy (interferon). - A clinical trial of new types or higher doses of targeted therapy or donor stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with relapsing chronic myelogenous leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Myelogenous Leukemia +What is (are) Merkel Cell Carcinoma ?,"Key Points + - Merkel cell carcinoma is a very rare disease in which malignant (cancer) cells form in the skin. - Sun exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. - Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. - Tests and procedures that examine the skin are used to detect (find) and diagnose Merkel cell carcinoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Merkel cell carcinoma is a very rare disease in which malignant (cancer) cells form in the skin. + Merkel cells are found in the top layer of the skin. These cells are very close to the nerve endings that receive the sensation of touch. Merkel cell carcinoma, also called neuroendocrine carcinoma of the skin or trabecular cancer, is a very rare type of skin cancer that forms when Merkel cells grow out of control. Merkel cell carcinoma starts most often in areas of skin exposed to the sun, especially the head and neck, as well as the arms, legs, and trunk. Merkel cell carcinoma tends to grow quickly and to metastasize (spread) at an early stage. It usually spreads first to nearby lymph nodes and then may spread to lymph nodes or skin in distant parts of the body, lungs, brain, bones, or other organs.",CancerGov,Merkel Cell Carcinoma +Who is at risk for Merkel Cell Carcinoma? ?,"un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for Merkel cell carcinoma include the following: - Being exposed to a lot of natural sunlight. - Being exposed to artificial sunlight, such as from tanning beds or psoralen and ultraviolet A (PUVA) therapy for psoriasis. - Having an immune system weakened by disease, such as chronic lymphocytic leukemia or HIV infection. - Taking drugs that make the immune system less active, such as after an organ transplant. - Having a history of other types of cancer. - Being older than 50 years, male, or white.",CancerGov,Merkel Cell Carcinoma +What are the symptoms of Merkel Cell Carcinoma ?,Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. This and other changes in the skin may be caused by Merkel cell carcinoma or by other conditions. Check with your doctor if you see changes in your skin. Merkel cell carcinoma usually appears on sun-exposed skin as a single lump that is: - Fast-growing. - Painless. - Firm and dome-shaped or raised. - Red or violet in color.,CancerGov,Merkel Cell Carcinoma +How to diagnose Merkel Cell Carcinoma ?,"Tests and procedures that examine the skin are used to detect (find) and diagnose Merkel cell carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Full-body skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. The size, shape, and texture of the lymph nodes will also be checked. - Skin biopsy : The removal of skin cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.",CancerGov,Merkel Cell Carcinoma +What is the outlook for Merkel Cell Carcinoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it has spread to the lymph nodes or other parts of the body). - Where the cancer is in the body. - Whether the cancer has just been diagnosed or has recurred (come back). - The patient's age and general health. Prognosis also depends on how deeply the tumor has grown into the skin.,CancerGov,Merkel Cell Carcinoma +What are the stages of Merkel Cell Carcinoma ?,"Key Points + - After Merkel cell carcinoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for Merkel cell carcinoma: - Stage 0 (carcinoma in situ) - Stage IA - Stage IB - Stage IIA - Stage IIB - Stage IIC - Stage IIIA - Stage IIIB - Stage IV + + + After Merkel cell carcinoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. A CT scan of the chest and abdomen may be used to check for primary small cell lung cancer, or to find Merkel cell carcinoma that has spread. A CT scan of the head and neck may also be used to find Merkel cell carcinoma that has spread to the lymph nodes. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Lymph node biopsy : There are two main types of lymph node biopsy used to stage Merkel cell carcinoma. - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - Lymph node dissection : A surgical procedure in which the lymph nodes are removed and a sample of tissue is checked under a microscope for signs of cancer. For a regional lymph node dissection, some of the lymph nodes in the tumor area are removed. For a radical lymph node dissection, most or all of the lymph nodes in the tumor area are removed. This procedure is also called lymphadenectomy. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if Merkel cell carcinoma spreads to the liver, the cancer cells in the liver are actually cancerous Merkel cells. The disease is metastatic Merkel cell carcinoma, not liver cancer. + + + The following stages are used for Merkel cell carcinoma: + Stage 0 (carcinoma in situ) In stage 0, the tumor is a group of abnormal cells that remain in the place where they first formed and have not spread. These abnormal cells may become cancer and spread to lymph nodes or distant parts of the body. Stage IA In stage IA, the tumor is 2 centimeters or smaller at its widest point and no cancer is found when the lymph nodes are checked under a microscope. Stage IB In stage IB, the tumor is 2 centimeters or smaller at its widest point and no swollen lymph nodes are found by a physical exam or imaging tests. Stage IIA In stage IIA, the tumor is larger than 2 centimeters and no cancer is found when the lymph nodes are checked under a microscope. Stage IIB In stage IIB, the tumor is larger than 2 centimeters and no swollen lymph nodes are found by a physical exam or imaging tests. Stage IIC In stage IIC, the tumor may be any size and has spread to nearby bone, muscle, connective tissue, or cartilage. It has not spread to lymph nodes or distant parts of the body. Stage IIIA In stage IIIA, the tumor may be any size and may have spread to nearby bone, muscle, connective tissue, or cartilage. Cancer is found in the lymph nodes when they are checked under a microscope. Stage IIIB In stage IIIB, the tumor may be any size and may have spread to nearby bone, muscle, connective tissue, or cartilage. Cancer has spread to the lymph nodes near the tumor and is found by a physical exam or imaging test. The lymph nodes are removed and cancer is found in the lymph nodes when they are checked under a microscope. There may also be a second tumor, which is either: - Between the primary tumor and nearby lymph nodes; or - Farther away from the center of the body than the primary tumor is. Stage IV In stage IV, the tumor may be any size and has spread to distant parts of the body, such as the liver, lung, bone, or brain.",CancerGov,Merkel Cell Carcinoma +What are the treatments for Merkel Cell Carcinoma ?,"Key Points + - There are different types of treatment for patients with Merkel cell carcinoma. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Treatment for Merkel cell carcinoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with Merkel cell carcinoma. + Different types of treatments are available for patients with Merkel cell carcinoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery One or more of the following surgical procedures may be used to treat Merkel cell carcinoma: - Wide local excision: The cancer is cut from the skin along with some of the tissue around it. A sentinel lymph node biopsy may be done during the wide local excision procedure. If there is cancer in the lymph nodes, a lymph node dissection also may be done. - Lymph node dissection: A surgical procedure in which the lymph nodes are removed and a sample of tissue is checked under a microscope for signs of cancer. For a regional lymph node dissection, some of the lymph nodes in the tumor area are removed; for a radical lymph node dissection, most or all of the lymph nodes in the tumor area are removed. This procedure is also called lymphadenectomy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat Merkel cell carcinoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + + + + Treatment for Merkel cell carcinoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I and Stage II Merkel Cell Carcinoma + Treatment of stage I and stage II Merkel cell carcinoma may include the following: - Surgery to remove the tumor, such as wide local excision with or without lymph node dissection. - Radiation therapy after surgery. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I neuroendocrine carcinoma of the skin and stage II neuroendocrine carcinoma of the skin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Merkel Cell Carcinoma + Treatment of stage III Merkel cell carcinoma may include the following: - Wide local excision with or without lymph node dissection. - Radiation therapy. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III neuroendocrine carcinoma of the skin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Merkel Cell Carcinoma + Treatment of stage IV Merkel cell carcinoma may include the following as palliative treatment to relieve symptoms and improve quality of life: - Chemotherapy. - Surgery. - Radiation therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV neuroendocrine carcinoma of the skin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Merkel Cell Carcinoma +what research (or clinical trials) is being done for Merkel Cell Carcinoma ?,"New types of treatment are being tested in clinical trials. + + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Merkel Cell Carcinoma +What is (are) Breast Cancer ?,"Key Points + - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Breast cancer is the second leading cause of death from cancer in American women. - Different factors increase or decrease the risk of breast cancer. + + + Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. + The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes, which have many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can produce milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also contains blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels lead to organs called lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter substances in lymph and help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. See the following PDQ summaries for more information about breast cancer: - Breast Cancer Prevention - Breast Cancer Treatment - Genetics of Breast and Gynecologic Cancers + + + Breast cancer is the second leading cause of death from cancer in American women. + Women in the United States get breast cancer more than any other type of cancer except for skin cancer. Breast cancer is second only to lung cancer as a cause of cancer death in women. Breast cancer occurs more often in white women than in black women. However, black women are more likely than white women to die from the disease. Breast cancer occurs in men also, but the number of cases is small.",CancerGov,Breast Cancer +Who is at risk for Breast Cancer? ?,"Different factors increase or decrease the risk of breast cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for breast cancer, see the PDQ summary on Breast Cancer Prevention.",CancerGov,Breast Cancer +what research (or clinical trials) is being done for Breast Cancer ?,"Other screening tests are being studied in clinical trials. + Thermography Thermography is a procedure in which a special camera that senses heat is used to record the temperature of the skin that covers the breasts. A computer makes a map of the breast showing the changes in temperature. Tumors can cause temperature changes that may show up on the thermogram. There have been no clinical trials of thermography to find out how well it detects breast cancer or if having the procedure decreases the risk of dying from breast cancer. Tissue sampling Breast tissue sampling is taking cells from breast tissue to check under a microscope. Abnormal cells in breast fluid have been linked to an increased risk of breast cancer in some studies. Scientists are studying whether breast tissue sampling can be used to find breast cancer at an early stage or predict the risk of developing breast cancer. Three ways of taking tissue samples are being studied: - Fine-needle aspiration: A thin needle is inserted into the breast tissue around the areola (darkened area around the nipple) to take out a sample of cells and fluid. - Nipple aspiration: The use of gentle suction to collect fluid through the nipple. This is done with a device similar to the breast pumps used by women who are breast-feeding. - Ductal lavage: A hair-size catheter (tube) is inserted into the nipple and a small amount of salt water is released into the duct. The water picks up breast cells and is removed. Screening clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website.",CancerGov,Breast Cancer +What is (are) Breast Cancer ?,"Key Points + - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Breast cancer is the second most common type of cancer in American women. + + + Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. + The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes, which have many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels lead to organs called lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter lymph and store white blood cells that help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. See the following PDQ summaries for more information about breast cancer: - Breast Cancer Screening - Breast Cancer Treatment - Breast Cancer Treatment and Pregnancy - Male Breast Cancer Treatment - Genetics of Breast and Ovarian Cancer + + + Breast cancer is the second most common type of cancer in American women. + Women in the United States get breast cancer more than any other type of cancer except skin cancer. Breast cancer is second to lung cancer as a cause of cancer death in American women. However, deaths from breast cancer have decreased a little bit every year between 2003 and 2012. Breast cancer also occurs in men, but the number of new cases is small.",CancerGov,Breast Cancer +How to prevent Breast Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for breast cancer: - Older age - A personal history of breast cancer or benign (noncancer) breast disease - Inherited risk of breast cancer - Dense breasts - Exposure of breast tissue to estrogen made in the body - Taking hormone therapy for symptoms of menopause - Radiation therapy to the breast or chest - Obesity - Drinking alcohol - The following are protective factors for breast cancer: - Less exposure of breast tissue to estrogen made by the body - Taking estrogen-only hormone therapy after hysterectomy, selective estrogen receptor modulators, or aromatase inhibitors and inactivators - Estrogen-only hormone therapy after hysterectomy - Selective estrogen receptor modulators - Aromatase inhibitors and inactivators - Risk-reducing mastectomy - Ovarian ablation - Getting enough exercise - It is not clear whether the following affect the risk of breast cancer: - Oral contraceptives - Environment - Studies have shown that some factors do not affect the risk of breast cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent breast cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER. + + + The following are risk factors for breast cancer: + Older age Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. A personal history of breast cancer or benign (noncancer) breast disease Women with any of the following have an increased risk of breast cancer: - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS). - A personal history of benign (noncancer) breast disease. Inherited risk of breast cancer Women with a family history of breast cancer in a first-degree relative (mother, sister, or daughter) have an increased risk of breast cancer. Women who have inherited changes in the BRCA1 and BRCA2 genes or in certain other genes have a higher risk of breast cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Dense breasts Having breast tissue that is dense on a mammogram is a factor in breast cancer risk. The level of risk depends on how dense the breast tissue is. Women with very dense breasts have a higher risk of breast cancer than women with low breast density. Increased breast density is often an inherited trait, but it may also occur in women who have not had children, have a first pregnancy late in life, take postmenopausal hormones, or drink alcohol. Exposure of breast tissue to estrogen made in the body Estrogen is a hormone made by the body. It helps the body develop and maintain female sex characteristics. Being exposed to estrogen over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. A woman's exposure to estrogen is increased in the following ways: - Early menstruation: Beginning to have menstrual periods at age 11 or younger increases the number of years the breast tissue is exposed to estrogen. - Starting menopause at a later age: The more years a woman menstruates, the longer her breast tissue is exposed to estrogen. - Older age at first birth or never having given birth: Because estrogen levels are lower during pregnancy, breast tissue is exposed to more estrogen in women who become pregnant for the first time after age 35 or who never become pregnant. Taking hormone therapy for symptoms of menopause Hormones, such as estrogen and progesterone, can be made into a pill form in a laboratory. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT increases the risk of breast cancer. Studies show that when women stop taking estrogen combined with progestin, the risk of breast cancer decreases. Radiation therapy to the breast or chest Radiation therapy to the chest for the treatment of cancer increases the risk of breast cancer, starting 10 years after treatment. The risk of breast cancer depends on the dose of radiation and the age at which it is given. The risk is highest if radiation treatment was used during puberty, when breasts are forming. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. For women who have inherited changes in the BRCA1 and BRCA2 genes, exposure to radiation, such as that from chest x-rays, may further increase the risk of breast cancer, especially in women who were x-rayed before 20 years of age. Obesity Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Drinking alcohol Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. + + + The following are protective factors for breast cancer: + Less exposure of breast tissue to estrogen made by the body Decreasing the length of time a woman's breast tissue is exposed to estrogen may help prevent breast cancer. Exposure to estrogen is reduced in the following ways: - Early pregnancy: Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. - Breast-feeding: Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. Taking estrogen-only hormone therapy after hysterectomy, selective estrogen receptor modulators, or aromatase inhibitors and inactivators Estrogen-only hormone therapy after hysterectomy Hormone therapy with estrogen only may be given to women who have had a hysterectomy. In these women, estrogen-only therapy after menopause may decrease the risk of breast cancer. There is an increased risk of stroke and heart and blood vessel disease in postmenopausal women who take estrogen after a hysterectomy. Selective estrogen receptor modulators Tamoxifen and raloxifene belong to the family of drugs called selective estrogen receptor modulators (SERMs). SERMs act like estrogen on some tissues in the body, but block the effect of estrogen on other tissues. Treatment with tamoxifen lowers the risk of estrogen receptor-positive (ER-positive) breast cancer and ductal carcinoma in situ in premenopausal and postmenopausal women at high risk. Treatment with raloxifene also lowers the risk of breast cancer in postmenopausal women. With either drug, the reduced risk lasts for several years or longer after treatment is stopped. Lower rates of broken bones have been noted in patients taking raloxifene. Taking tamoxifen increases the risk of hot flashes, endometrial cancer, stroke, cataracts, and blood clots (especially in the lungs and legs). The risk of having these problems increases markedly in women older than 50 years compared with younger women. Women younger than 50 years who have a high risk of breast cancer may benefit the most from taking tamoxifen. The risk of having these problems decreases after tamoxifen is stopped. Talk with your doctor about the risks and benefits of taking this drug. Taking raloxifene increases the risk of blood clots in the lungs and legs, but does not appear to increase the risk of endometrial cancer. In postmenopausal women with osteoporosis (decreased bone density), raloxifene lowers the risk of breast cancer for women who have a high or low risk of breast cancer. It is not known if raloxifene would have the same effect in women who do not have osteoporosis. Talk with your doctor about the risks and benefits of taking this drug. Other SERMs are being studied in clinical trials. Aromatase inhibitors and inactivators Aromatase inhibitors (anastrozole, letrozole) and inactivators (exemestane) lower the risk of recurrence and of new breast cancers in women who have a history of breast cancer. Aromatase inhibitors also decrease the risk of breast cancer in women with the following conditions: - Postmenopausal women with a personal history of breast cancer. - Women with no personal history of breast cancer who are 60 years and older, have a history of ductal carcinoma in situ with mastectomy, or have a high risk of breast cancer based on the Gail model tool (a tool used to estimate the risk of breast cancer). In women with an increased risk of breast cancer, taking aromatase inhibitors decreases the amount of estrogen made by the body. Before menopause, estrogen is made by the ovaries and other tissues in a woman's body, including the brain, fat tissue, and skin. After menopause, the ovaries stop making estrogen, but the other tissues do not. Aromatase inhibitors block the action of an enzyme called aromatase, which is used to make all of the body's estrogen. Aromatase inactivators stop the enzyme from working. Possible harms from taking aromatase inhibitors include muscle and joint pain, osteoporosis, hot flashes, and feeling very tired. Risk-reducing mastectomy Some women who have a high risk of breast cancer may choose to have a risk-reducing mastectomy (the removal of both breasts when there are no signs of cancer). The risk of breast cancer is much lower in these women and most feel less anxious about their risk of breast cancer. However, it is very important to have a cancer risk assessment and counseling about the different ways to prevent breast cancer before making this decision. Ovarian ablation The ovaries make most of the estrogen that is made by the body. Treatments that stop or lower the amount of estrogen made by the ovaries include surgery to remove the ovaries, radiation therapy, or taking certain drugs. This is called ovarian ablation. Premenopausal women who have a high risk of breast cancer due to certain changes in the BRCA1 and BRCA2 genes may choose to have a risk-reducing oophorectomy (the removal of both ovaries when there are no signs of cancer). This decreases the amount of estrogen made by the body and lowers the risk of breast cancer. Risk-reducing oophorectomy also lowers the risk of breast cancer in normal premenopausal women and in women with an increased risk of breast cancer due to radiation to the chest. However, it is very important to have a cancer risk assessment and counseling before making this decision. The sudden drop in estrogen levels may cause the symptoms of menopause to begin. These include hot flashes, trouble sleeping, anxiety, and depression. Long-term effects include decreased sex drive, vaginal dryness, and decreased bone density. Getting enough exercise Women who exercise four or more hours a week have a lower risk of breast cancer. The effect of exercise on breast cancer risk may be greatest in premenopausal women who have normal or low body weight. + + + It is not clear whether the following affect the risk of breast cancer: + Oral contraceptives Certain oral contraceptives contain estrogen. Some studies have shown that taking oral contraceptives (""the pill"") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Other studies have not shown an increased risk of breast cancer in women who take oral contraceptives. Progestin -only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. More studies are needed to know whether progestin-only oral contraceptives increase the risk of breast cancer. Environment Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. + + + Studies have shown that some factors do not affect the risk of breast cancer. + The following do not affect the risk of breast cancer: - Having an abortion. - Making diet changes such as eating less fat or more fruits and vegetables. - Taking vitamins, including fenretinide (a type of vitamin A). - Cigarette smoking, both active and passive (inhaling secondhand smoke). - Using underarm deodorant or antiperspirant. - Taking statins (cholesterol -lowering drugs). - Taking bisphosphonates (drugs used to treat osteoporosis and hypercalcemia) by mouth or by intravenous infusion. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent breast cancer are being studied in clinical trials.",CancerGov,Breast Cancer +Who is at risk for Breast Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for breast cancer: - Older age - A personal history of breast cancer or benign (noncancer) breast disease - Inherited risk of breast cancer - Dense breasts - Exposure of breast tissue to estrogen made in the body - Taking hormone therapy for symptoms of menopause - Radiation therapy to the breast or chest - Obesity - Drinking alcohol - The following are protective factors for breast cancer: - Less exposure of breast tissue to estrogen made by the body - Taking estrogen-only hormone therapy after hysterectomy, selective estrogen receptor modulators, or aromatase inhibitors and inactivators - Estrogen-only hormone therapy after hysterectomy - Selective estrogen receptor modulators - Aromatase inhibitors and inactivators - Risk-reducing mastectomy - Ovarian ablation - Getting enough exercise - It is not clear whether the following affect the risk of breast cancer: - Oral contraceptives - Environment - Studies have shown that some factors do not affect the risk of breast cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent breast cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER. + + + The following are risk factors for breast cancer: + Older age Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. A personal history of breast cancer or benign (noncancer) breast disease Women with any of the following have an increased risk of breast cancer: - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS). - A personal history of benign (noncancer) breast disease. Inherited risk of breast cancer Women with a family history of breast cancer in a first-degree relative (mother, sister, or daughter) have an increased risk of breast cancer. Women who have inherited changes in the BRCA1 and BRCA2 genes or in certain other genes have a higher risk of breast cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Dense breasts Having breast tissue that is dense on a mammogram is a factor in breast cancer risk. The level of risk depends on how dense the breast tissue is. Women with very dense breasts have a higher risk of breast cancer than women with low breast density. Increased breast density is often an inherited trait, but it may also occur in women who have not had children, have a first pregnancy late in life, take postmenopausal hormones, or drink alcohol. Exposure of breast tissue to estrogen made in the body Estrogen is a hormone made by the body. It helps the body develop and maintain female sex characteristics. Being exposed to estrogen over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. A woman's exposure to estrogen is increased in the following ways: - Early menstruation: Beginning to have menstrual periods at age 11 or younger increases the number of years the breast tissue is exposed to estrogen. - Starting menopause at a later age: The more years a woman menstruates, the longer her breast tissue is exposed to estrogen. - Older age at first birth or never having given birth: Because estrogen levels are lower during pregnancy, breast tissue is exposed to more estrogen in women who become pregnant for the first time after age 35 or who never become pregnant. Taking hormone therapy for symptoms of menopause Hormones, such as estrogen and progesterone, can be made into a pill form in a laboratory. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT increases the risk of breast cancer. Studies show that when women stop taking estrogen combined with progestin, the risk of breast cancer decreases. Radiation therapy to the breast or chest Radiation therapy to the chest for the treatment of cancer increases the risk of breast cancer, starting 10 years after treatment. The risk of breast cancer depends on the dose of radiation and the age at which it is given. The risk is highest if radiation treatment was used during puberty, when breasts are forming. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. For women who have inherited changes in the BRCA1 and BRCA2 genes, exposure to radiation, such as that from chest x-rays, may further increase the risk of breast cancer, especially in women who were x-rayed before 20 years of age. Obesity Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Drinking alcohol Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. + + + The following are protective factors for breast cancer: + Less exposure of breast tissue to estrogen made by the body Decreasing the length of time a woman's breast tissue is exposed to estrogen may help prevent breast cancer. Exposure to estrogen is reduced in the following ways: - Early pregnancy: Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. - Breast-feeding: Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. Taking estrogen-only hormone therapy after hysterectomy, selective estrogen receptor modulators, or aromatase inhibitors and inactivators Estrogen-only hormone therapy after hysterectomy Hormone therapy with estrogen only may be given to women who have had a hysterectomy. In these women, estrogen-only therapy after menopause may decrease the risk of breast cancer. There is an increased risk of stroke and heart and blood vessel disease in postmenopausal women who take estrogen after a hysterectomy. Selective estrogen receptor modulators Tamoxifen and raloxifene belong to the family of drugs called selective estrogen receptor modulators (SERMs). SERMs act like estrogen on some tissues in the body, but block the effect of estrogen on other tissues. Treatment with tamoxifen lowers the risk of estrogen receptor-positive (ER-positive) breast cancer and ductal carcinoma in situ in premenopausal and postmenopausal women at high risk. Treatment with raloxifene also lowers the risk of breast cancer in postmenopausal women. With either drug, the reduced risk lasts for several years or longer after treatment is stopped. Lower rates of broken bones have been noted in patients taking raloxifene. Taking tamoxifen increases the risk of hot flashes, endometrial cancer, stroke, cataracts, and blood clots (especially in the lungs and legs). The risk of having these problems increases markedly in women older than 50 years compared with younger women. Women younger than 50 years who have a high risk of breast cancer may benefit the most from taking tamoxifen. The risk of having these problems decreases after tamoxifen is stopped. Talk with your doctor about the risks and benefits of taking this drug. Taking raloxifene increases the risk of blood clots in the lungs and legs, but does not appear to increase the risk of endometrial cancer. In postmenopausal women with osteoporosis (decreased bone density), raloxifene lowers the risk of breast cancer for women who have a high or low risk of breast cancer. It is not known if raloxifene would have the same effect in women who do not have osteoporosis. Talk with your doctor about the risks and benefits of taking this drug. Other SERMs are being studied in clinical trials. Aromatase inhibitors and inactivators Aromatase inhibitors (anastrozole, letrozole) and inactivators (exemestane) lower the risk of recurrence and of new breast cancers in women who have a history of breast cancer. Aromatase inhibitors also decrease the risk of breast cancer in women with the following conditions: - Postmenopausal women with a personal history of breast cancer. - Women with no personal history of breast cancer who are 60 years and older, have a history of ductal carcinoma in situ with mastectomy, or have a high risk of breast cancer based on the Gail model tool (a tool used to estimate the risk of breast cancer). In women with an increased risk of breast cancer, taking aromatase inhibitors decreases the amount of estrogen made by the body. Before menopause, estrogen is made by the ovaries and other tissues in a woman's body, including the brain, fat tissue, and skin. After menopause, the ovaries stop making estrogen, but the other tissues do not. Aromatase inhibitors block the action of an enzyme called aromatase, which is used to make all of the body's estrogen. Aromatase inactivators stop the enzyme from working. Possible harms from taking aromatase inhibitors include muscle and joint pain, osteoporosis, hot flashes, and feeling very tired. Risk-reducing mastectomy Some women who have a high risk of breast cancer may choose to have a risk-reducing mastectomy (the removal of both breasts when there are no signs of cancer). The risk of breast cancer is much lower in these women and most feel less anxious about their risk of breast cancer. However, it is very important to have a cancer risk assessment and counseling about the different ways to prevent breast cancer before making this decision. Ovarian ablation The ovaries make most of the estrogen that is made by the body. Treatments that stop or lower the amount of estrogen made by the ovaries include surgery to remove the ovaries, radiation therapy, or taking certain drugs. This is called ovarian ablation. Premenopausal women who have a high risk of breast cancer due to certain changes in the BRCA1 and BRCA2 genes may choose to have a risk-reducing oophorectomy (the removal of both ovaries when there are no signs of cancer). This decreases the amount of estrogen made by the body and lowers the risk of breast cancer. Risk-reducing oophorectomy also lowers the risk of breast cancer in normal premenopausal women and in women with an increased risk of breast cancer due to radiation to the chest. However, it is very important to have a cancer risk assessment and counseling before making this decision. The sudden drop in estrogen levels may cause the symptoms of menopause to begin. These include hot flashes, trouble sleeping, anxiety, and depression. Long-term effects include decreased sex drive, vaginal dryness, and decreased bone density. Getting enough exercise Women who exercise four or more hours a week have a lower risk of breast cancer. The effect of exercise on breast cancer risk may be greatest in premenopausal women who have normal or low body weight. + + + It is not clear whether the following affect the risk of breast cancer: + Oral contraceptives Certain oral contraceptives contain estrogen. Some studies have shown that taking oral contraceptives (""the pill"") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Other studies have not shown an increased risk of breast cancer in women who take oral contraceptives. Progestin -only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. More studies are needed to know whether progestin-only oral contraceptives increase the risk of breast cancer. Environment Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. + + + Studies have shown that some factors do not affect the risk of breast cancer. + The following do not affect the risk of breast cancer: - Having an abortion. - Making diet changes such as eating less fat or more fruits and vegetables. - Taking vitamins, including fenretinide (a type of vitamin A). - Cigarette smoking, both active and passive (inhaling secondhand smoke). - Using underarm deodorant or antiperspirant. - Taking statins (cholesterol -lowering drugs). - Taking bisphosphonates (drugs used to treat osteoporosis and hypercalcemia) by mouth or by intravenous infusion.",CancerGov,Breast Cancer +what research (or clinical trials) is being done for Breast Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent breast cancer are being studied in clinical trials.",CancerGov,Breast Cancer +What is (are) Extragonadal Germ Cell Tumors ?,"Key Points + - Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. - Age and gender can affect the risk of extragonadal germ cell tumors. - Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. - Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. + "" Extragonadal"" means outside of the gonads (sex organs). When cells that are meant to form sperm in the testicles or eggs in the ovaries travel to other parts of the body, they may grow into extragonadal germ cell tumors. These tumors may begin to grow anywhere in the body but usually begin in organs such as the pineal gland in the brain, in the mediastinum (area between the lungs), or in the retroperitoneum (the back wall of the abdomen). Extragonadal germ cell tumors can be benign (noncancer) or malignant (cancer). Benign extragonadal germ cell tumors are called benign teratomas. These are more common than malignant extragonadal germ cell tumors and often are very large. Malignant extragonadal germ cell tumors are divided into two types, nonseminoma and seminoma. Nonseminomas tend to grow and spread more quickly than seminomas. They usually are large and cause signs and symptoms. If untreated, malignant extragonadal germ cell tumors may spread to the lungs, lymph nodes, bones, liver, or other parts of the body. For information about germ cell tumors in the ovaries and testicles, see the following PDQ summaries: - Ovarian Germ Cell Tumors Treatment - Testicular Cancer Treatment",CancerGov,Extragonadal Germ Cell Tumors +Who is at risk for Extragonadal Germ Cell Tumors? ?,Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for malignant extragonadal germ cell tumors include the following: - Being male. - Being age 20 or older. - Having Klinefelter syndrome.,CancerGov,Extragonadal Germ Cell Tumors +What are the symptoms of Extragonadal Germ Cell Tumors ?,Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - Chest pain. - Breathing problems. - Cough. - Fever. - Headache. - Change in bowel habits. - Feeling very tired. - Trouble walking. - Trouble in seeing or moving the eyes.,CancerGov,Extragonadal Germ Cell Tumors +How to diagnose Extragonadal Germ Cell Tumors ?,"Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following three tumor markers are used to detect extragonadal germ cell tumor: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). - Lactate dehydrogenase (LDH). Blood levels of the tumor markers help determine if the tumor is a seminoma or nonseminoma. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Sometimes a CT scan and a PET scan are done at the same time. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. When a PET scan and CT scan are done at the same time, it is called a PET-CT. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The type of biopsy used depends on where the extragonadal germ cell tumor is found. - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle.",CancerGov,Extragonadal Germ Cell Tumors +What is the outlook for Extragonadal Germ Cell Tumors ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is nonseminoma or seminoma. - The size of the tumor and where it is in the body. - The blood levels of AFP, -hCG, and LDH. - Whether the tumor has spread to other parts of the body. - The way the tumor responds to initial treatment. - Whether the tumor has just been diagnosed or has recurred (come back).",CancerGov,Extragonadal Germ Cell Tumors +What are the stages of Extragonadal Germ Cell Tumors ?,"Key Points + - After an extragonadal germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following prognostic groups are used for extragonadal germ cell tumors: - Good prognosis - Intermediate prognosis - Poor prognosis + + + After an extragonadal germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The extent or spread of cancer is usually described as stages. For extragonadal germ cell tumors, prognostic groups are used instead of stages. The tumors are grouped according to how well the cancer is expected to respond to treatment. It is important to know the prognostic group in order to plan treatment. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if an extragonadal germ cell tumor spreads to the lung, the tumor cells in the lung are actually cancerous germ cells. The disease is metastatic extragonadal germ cell tumor, not lung cancer. + + + The following prognostic groups are used for extragonadal germ cell tumors: + Good prognosis A nonseminoma extragonadal germ cell tumor is in the good prognosis group if: - the tumor is in the back of the abdomen; and - the tumor has not spread to organs other than the lungs; and - the levels of tumor markers AFP and -hCG are normal and LDH is slightly above normal. A seminoma extragonadal germ cell tumor is in the good prognosis group if: - the tumor has not spread to organs other than the lungs; and - the level of AFP is normal; -hCG and LDH may be at any level. Intermediate prognosis A nonseminoma extragonadal germ cell tumor is in the intermediate prognosis group if: - the tumor is in the back of the abdomen; and - the tumor has not spread to organs other than the lungs; and - the level of any one of the tumor markers (AFP, -hCG, or LDH) is more than slightly above normal. A seminoma extragonadal germ cell tumor is in the intermediate prognosis group if: - the tumor has spread to organs other than the lungs; and - the level of AFP is normal; -hCG and LDH may be at any level. Poor prognosis A nonseminoma extragonadal germ cell tumor is in the poor prognosis group if: - the tumor is in the chest; or - the tumor has spread to organs other than the lungs; or - the level of any one of the tumor markers (AFP, -hCG, or LDH) is high. Seminoma extragonadal germ cell tumor does not have a poor prognosis group.",CancerGov,Extragonadal Germ Cell Tumors +What are the treatments for Extragonadal Germ Cell Tumors ?,"Key Points + - There are different types of treatment for patients with extragonadal germ cell tumors. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with extragonadal germ cell tumors. + Different types of treatments are available for patients with extragonadal germ cell tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat seminoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Surgery Patients who have benign tumors or tumor remaining after chemotherapy or radiation therapy may need to have surgery. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. After initial treatment for extragonadal germ cell tumors, blood levels of AFP and other tumor markers continue to be checked to find out how well the treatment is working. + + + Treatment Options for Extragonadal Germ Cell Tumors + + + Benign Teratoma + Treatment of benign teratomas is surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with benign teratoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Seminoma + Treatment of seminoma extragonadal germ cell tumors may include the following: - Radiation therapy for small tumors in one area, followed by watchful waiting if there is tumor remaining after treatment. - Chemotherapy for larger tumors or tumors that have spread. If a tumor smaller than 3 centimeters remains after chemotherapy, watchful waiting follows. If a larger tumor remains after treatment, surgery or watchful waiting follow. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extragonadal seminoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Nonseminoma + Treatment of nonseminoma extragonadal germ cell tumors may include the following: - Combination chemotherapy followed by surgery to remove any remaining tumor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with malignant extragonadal non-seminomatous germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent or Refractory Extragonadal Germ Cell Tumors + Treatment of extragonadal germ cell tumors that are recurrent (come back after being treated) or refractory (do not get better during treatment) may include the following: - Chemotherapy. - A clinical trial of high-dose chemotherapy with stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent extragonadal germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Extragonadal Germ Cell Tumors +what research (or clinical trials) is being done for Extragonadal Germ Cell Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Extragonadal Germ Cell Tumors +What is (are) Renal Cell Cancer ?,"Key Points + - Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. - Smoking and misuse of certain pain medicines can affect the risk of renal cell cancer. - Signs of renal cell cancer include blood in the urine and a lump in the abdomen. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose renal cell cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. + Renal cell cancer (also called kidney cancer or renal adenocarcinoma) is a disease in which malignant (cancer) cells are found in the lining of tubules (very small tubes) in the kidney. There are 2 kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. Cancer that starts in the ureters or the renal pelvis (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer. (See the PDQ summary about Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment for more information).",CancerGov,Renal Cell Cancer +What are the stages of Renal Cell Cancer ?,"Key Points + - After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for renal cell cancer: - Stage I - Stage II - Stage III - Stage IV + + + After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. + The process used to find out if cancer has spread within the kidney or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if renal cell cancer spreads to the bone, the cancer cells in the bone are actually cancerous renal cells. The disease is metastatic renal cell cancer, not bone cancer. + + + The following stages are used for renal cell cancer: + Stage I In stage I, the tumor is 7 centimeters or smaller and is found only in the kidney. Stage II In stage II, the tumor is larger than 7 centimeters and is found only in the kidney. Stage III In stage III: - the tumor is any size and cancer is found only in the kidney and in 1 or more nearby lymph nodes; or - cancer is found in the main blood vessels of the kidney or in the layer of fatty tissue around the kidney. Cancer may be found in 1 or more nearby lymph nodes. Stage IV In stage IV, cancer has spread: - beyond the layer of fatty tissue around the kidney and may be found in the adrenal gland above the kidney with cancer, or in nearby lymph nodes; or - to other organs, such as the lungs, liver, bones, or brain, and may have spread to lymph nodes.",CancerGov,Renal Cell Cancer +What are the treatments for Renal Cell Cancer ?,"Key Points + - There are different types of treatment for patients with renal cell cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with renal cell cancer. + Different types of treatments are available for patients with renal cell cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery to remove part or all of the kidney is often used to treat renal cell cancer. The following types of surgery may be used: - Partial nephrectomy: A surgical procedure to remove the cancer within the kidney and some of the tissue around it. A partial nephrectomy may be done to prevent loss of kidney function when the other kidney is damaged or has already been removed. - Simple nephrectomy: A surgical procedure to remove the kidney only. - Radical nephrectomy: A surgical procedure to remove the kidney, the adrenal gland, surrounding tissue, and, usually, nearby lymph nodes. A person can live with part of 1 working kidney, but if both kidneys are removed or not working, the person will need dialysis (a procedure to clean the blood using a machine outside of the body) or a kidney transplant (replacement with a healthy donated kidney). A kidney transplant may be done when the disease is in the kidney only and a donated kidney can be found. If the patient has to wait for a donated kidney, other treatment is given as needed. When surgery to remove the cancer is not possible, a treatment called arterial embolization may be used to shrink the tumor. A small incision is made and a catheter (thin tube) is inserted into the main blood vessel that flows to the kidney. Small pieces of a special gelatin sponge are injected through the catheter into the blood vessel. The sponges block the blood flow to the kidney and prevent the cancer cells from getting oxygen and other substances they need to grow. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat renal cell cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Kidney (Renal Cell) Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. The following types of biologic therapy are being used or studied in the treatment of renal cell cancer: - Nivolumab: Nivolumab is a monoclonal antibody that boosts the bodys immune response against renal cell cancer cells. - Interferon: Interferon affects the division of cancer cells and can slow tumor growth. - Interleukin-2 (IL-2): IL-2 boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. See Drugs Approved for Kidney (Renal Cell) Cancer for more information. Targeted therapy Targeted therapy uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy with antiangiogenic agents are used to treat advanced renal cell cancer. Antiangiogenic agents keep blood vessels from forming in a tumor, causing the tumor to starve and stop growing or to shrink. Monoclonal antibodies and kinase inhibitors are two types of antiangiogenic agents used to treat renal cell cancer. Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Monoclonal antibodies used to treat renal cell cancer attach to and block substances that cause new blood vessels to form in tumors. Kinase inhibitors stop cells from dividing and may prevent the growth of new blood vessels that tumors need to grow. An mTOR inhibitor is a type of kinase inhibitor. Everolimus and temsirolimus are mTOR inhibitors used to treat advanced renal cell cancer. See Drugs Approved for Kidney (Renal Cell) Cancer for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Renal Cell Cancer + + + Stage I Renal Cell Cancer + Treatment of stage I renal cell cancer may include the following: - Surgery (radical nephrectomy, simple nephrectomy, or partial nephrectomy). - Radiation therapy as palliative therapy to relieve symptoms in patients who cannot have surgery. - Arterial embolization as palliative therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Renal Cell Cancer + Treatment of stage II renal cell cancer may include the following: - Surgery (radical nephrectomy or partial nephrectomy). - Surgery (nephrectomy), before or after radiation therapy. - Radiation therapy as palliative therapy to relieve symptoms in patients who cannot have surgery. - Arterial embolization as palliative therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Renal Cell Cancer + Treatment of stage III renal cell cancer may include the following: - Surgery (radical nephrectomy). Blood vessels of the kidney and some lymph nodes may also be removed. - Arterial embolization followed by surgery (radical nephrectomy). - Radiation therapy as palliative therapy to relieve symptoms and improve the quality of life. - Arterial embolization as palliative therapy. - Surgery (nephrectomy) as palliative therapy. - Radiation therapy before or after surgery (radical nephrectomy). - A clinical trial of biologic therapy following surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV and Recurrent Renal Cell Cancer + Treatment of stage IV and recurrent renal cell cancer may include the following: - Surgery (radical nephrectomy). - Surgery (nephrectomy) to reduce the size of the tumor. - Targeted therapy. - Biologic therapy. - Radiation therapy as palliative therapy to relieve symptoms and improve the quality of life. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV renal cell cancer and recurrent renal cell cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Renal Cell Cancer +what research (or clinical trials) is being done for Renal Cell Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Renal Cell Cancer +What is (are) Chronic Neutrophilic Leukemia ?,Chronic neutrophilic leukemia is a disease in which too many blood stem cells become a type of white blood cell called neutrophils. Neutrophils are infection -fighting blood cells that surround and destroy dead cells and foreign substances (such as bacteria). The spleen and liver may swell because of the extra neutrophils. Chronic neutrophilic leukemia may stay the same or it may progress quickly to acute leukemia.,CancerGov,Chronic Neutrophilic Leukemia +What are the treatments for Chronic Neutrophilic Leukemia ?,"Treatment of chronic neutrophilic leukemia may include the following: - Donor bone marrow transplant. - Chemotherapy. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Neutrophilic Leukemia +What is (are) Small Cell Lung Cancer ?,"Key Points + - Small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are two main types of small cell lung cancer. - Smoking is the major risk factor for small cell lung cancer. - Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. - Tests and procedures that examine the lungs are used to detect (find), diagnose, and stage small cell lung cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. - For most patients with small cell lung cancer, current treatments do not cure the cancer. + + + Small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. + The lungs are a pair of cone-shaped breathing organs that are found in the chest. The lungs bring oxygen into the body when you breathe in and take out carbon dioxide when you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung, which is slightly larger, has three. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also affected by lung cancer. Small tubes called bronchioles and tiny air sacs called alveoli make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. This summary is about small cell lung cancer and its treatment. See the following PDQ summaries for more information about lung cancer: - Non-Small Cell Lung Cancer Treatment - Unusual Cancers of Childhood Treatment - Lung Cancer Prevention - Lung Cancer Screening + + + There are two main types of small cell lung cancer. + These two types include many different types of cells. The cancer cells of each type grow and spread in different ways. The types of small cell lung cancer are named for the kinds of cells found in the cancer and how the cells look when viewed under a microscope: - Small cell carcinoma (oat cell cancer). - Combined small cell carcinoma. + + + For most patients with small cell lung cancer, current treatments do not cure the cancer. + If lung cancer is found, patients should think about taking part in one of the many clinical trials being done to improve treatment. Clinical trials are taking place in most parts of the country for patients with all stages of small cell lung cancer. Information about ongoing clinical trials is available from the NCI website.",CancerGov,Small Cell Lung Cancer +Who is at risk for Small Cell Lung Cancer? ?,"Smoking is the major risk factor for small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer. Risk factors for lung cancer include the following: - Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer. - Being exposed to secondhand smoke. - Being exposed to radiation from any of the following: - Radiation therapy to the breast or chest. - Radon in the home or workplace. - Imaging tests such as CT scans. - Atomic bomb radiation. - Being exposed to asbestos, chromium, nickel, beryllium, arsenic, soot, or tar in the workplace. - Living where there is air pollution. - Having a family history of lung cancer. - Being infected with the human immunodeficiency virus (HIV). - Taking beta carotene supplements and being a heavy smoker. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. When smoking is combined with other risk factors, the risk of lung cancer is increased.",CancerGov,Small Cell Lung Cancer +What are the symptoms of Small Cell Lung Cancer ?,"Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. These and other signs and symptoms may be caused by small cell lung cancer or by other conditions. Check with your doctor if you have any of the following: - Chest discomfort or pain. - A cough that doesnt go away or gets worse over time. - Trouble breathing. - Wheezing. - Blood in sputum (mucus coughed up from the lungs). - Hoarseness. - Trouble swallowing. - Loss of appetite. - Weight loss for no known reason. - Feeling very tired. - Swelling in the face and/or veins in the neck.",CancerGov,Small Cell Lung Cancer +How to diagnose Small Cell Lung Cancer ?,"Tests and procedures that examine the lungs are used to detect (find), diagnose, and stage small cell lung cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits, including smoking, and past jobs, illnesses, and treatments will also be taken. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan) of the brain, chest, and abdomen : A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Sputum cytology : A microscope is used to check for cancer cells in the sputum (mucus coughed up from the lungs). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The different ways a biopsy can be done include the following: - Fine-needle aspiration (FNA) biopsy of the lung: The removal of tissue or fluid from the lung, using a thin needle. A CT scan, ultrasound, or other imaging procedure is used to find the abnormal tissue or fluid in the lung. A small incision may be made in the skin where the biopsy needle is inserted into the abnormal tissue or fluid. A sample is removed with the needle and sent to the laboratory. A pathologist then views the sample under a microscope to look for cancer cells. A chest x-ray is done after the procedure to make sure no air is leaking from the lung into the chest. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Thoracoscopy : A surgical procedure to look at the organs inside the chest to check for abnormal areas. An incision (cut) is made between two ribs, and a thoracoscope is inserted into the chest. A thoracoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. In some cases, this procedure is used to remove part of the esophagus or lung. If certain tissues, organs, or lymph nodes cant be reached, a thoracotomy may be done. In this procedure, a larger incision is made between the ribs and the chest is opened. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.",CancerGov,Small Cell Lung Cancer +What are the stages of Small Cell Lung Cancer ?,"Key Points + - After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for small cell lung cancer: - Limited-Stage Small Cell Lung Cancer - Extensive-Stage Small Cell Lung Cancer + + + After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. + The process used to find out if cancer has spread within the chest or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some of the tests used to diagnose small cell lung cancer are also used to stage the disease. (See the General Information section.) Other tests and procedures that may be used in the staging process include the following: - MRI (magnetic resonance imaging) of the brain: A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the brain, chest or upper abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if small cell lung cancer spreads to the brain, the cancer cells in the brain are actually lung cancer cells. The disease is metastatic small cell lung cancer, not brain cancer. + + + The following stages are used for small cell lung cancer: + Limited-Stage Small Cell Lung Cancer In limited-stage, cancer is in the lung where it started and may have spread to the area between the lungs or to the lymph nodes above the collarbone. Extensive-Stage Small Cell Lung Cancer In extensive-stage, cancer has spread beyond the lung or the area between the lungs or the lymph nodes above the collarbone to other places in the body.",CancerGov,Small Cell Lung Cancer +What are the treatments for Small Cell Lung Cancer ?,"Key Points + - There are different types of treatment for patients with small cell lung cancer. - Five types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Laser therapy - Endoscopic stent placement - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with small cell lung cancer. + Different types of treatment are available for patients with small cell lung cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery may be used if the cancer is found in one lung and in nearby lymph nodes only. Because this type of lung cancer is usually found in both lungs, surgery alone is not often used. During surgery, the doctor will also remove lymph nodes to find out if they have cancer in them. Sometimes, surgery may be used to remove a sample of lung tissue to find out the exact type of lung cancer. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Small Cell Lung Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat small cell lung cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Radiation therapy to the brain to lessen the risk that cancer will spread to the brain may also be given. Laser therapy Laser therapy is a cancer treatment that uses a laser beam (a narrow beam of intense light) to kill cancer cells. Endoscopic stent placement An endoscope is a thin, tube-like instrument used to look at tissues inside the body. An endoscope has a light and a lens for viewing and may be used to place a stent in a body structure to keep the structure open. An endoscopic stent can be used to open an airway blocked by abnormal tissue. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Limited-Stage Small Cell Lung Cancer + Treatment of limited-stage small cell lung cancer may include the following: - Combination chemotherapy and radiation therapy to the chest. Radiation therapy to the brain may later be given to patients with complete responses. - Combination chemotherapy alone for patients who cannot be given radiation therapy. - Surgery followed by chemotherapy. - Surgery followed by chemotherapy and radiation therapy. - Radiation therapy to the brain may be given to patients who have had a complete response, to prevent the spread of cancer to the brain. - Clinical trials of new chemotherapy, surgery, and radiation treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with limited stage small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Extensive-Stage Small Cell Lung Cancer + Treatment of extensive-stage small cell lung cancer may include the following: - Combination chemotherapy. - Radiation therapy to the brain, spine, bone, or other parts of the body where the cancer has spread, as palliative therapy to relieve symptoms and improve quality of life. - Radiation therapy to the chest may be given to patients who respond to chemotherapy. - Radiation therapy to the brain may be given to patients who have had a complete response, to prevent the spread of cancer to the brain. - Clinical trials of new chemotherapy treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extensive stage small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Small Cell Lung Cancer +what research (or clinical trials) is being done for Small Cell Lung Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Small Cell Lung Cancer +What is (are) Ovarian Low Malignant Potential Tumors ?,"Key Points + - Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. - Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen. - Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. + Ovarian low malignant potential tumors have abnormal cells that may become cancer, but usually do not. This disease usually remains in the ovary. When disease is found in one ovary, the other ovary should also be checked carefully for signs of disease. The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones.",CancerGov,Ovarian Low Malignant Potential Tumors +What are the symptoms of Ovarian Low Malignant Potential Tumors ?,"Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.Ovarian low malignant potential tumor may not cause early signs or symptoms. If you do have signs or symptoms, they may include the following: - Pain or swelling in the abdomen. - Pain in the pelvis. - Gastrointestinal problems, such as gas, bloating, or constipation. These signs and symptoms may be caused by other conditions. If they get worse or do not go away on their own, check with your doctor.",CancerGov,Ovarian Low Malignant Potential Tumors +How to diagnose Ovarian Low Malignant Potential Tumors ?,"Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later.Other patients may have a transvaginal ultrasound. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - CA 125 assay : A test that measures the level of CA 125 in the blood. CA 125 is a substance released by cells into the bloodstream. An increased CA 125 level is sometimes a sign of cancer or other condition. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue is usually removed during surgery to remove the tumor.",CancerGov,Ovarian Low Malignant Potential Tumors +What is the outlook for Ovarian Low Malignant Potential Tumors ?,"Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the disease (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). - What type of cells make up the tumor. - The size of the tumor. - The patients general health. Patients with ovarian low malignant potential tumors have a good prognosis, especially when the tumor is found early.",CancerGov,Ovarian Low Malignant Potential Tumors +What are the stages of Ovarian Low Malignant Potential Tumors ?,"Key Points + - After ovarian low malignant potential tumor has been diagnosed, tests are done to find out if abnormal cells have spread within the ovary or to other parts of the body. - The following stages are used for ovarian low malignant potential tumor: - Stage I - Stage II - Stage III - Stage IV + + + After ovarian low malignant potential tumor has been diagnosed, tests are done to find out if abnormal cells have spread within the ovary or to other parts of the body. + The process used to find out whether abnormal cells have spread within the ovary or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Certain tests or procedures are used for staging. Staging laparotomy (a surgical incision made in the wall of the abdomen to remove ovarian tissue) may be used. Most patients are diagnosed with stage I disease. + + + The following stages are used for ovarian low malignant potential tumor: + Stage I In stage I, the tumor is found in one or both ovaries. Stage I is divided into stage IA, stage IB, and stage IC. - Stage IA: The tumor is found inside a single ovary. - Stage IB: The tumor is found inside both ovaries. - Stage IC: The tumor is found inside one or both ovaries and one of the following is true: - tumor cells are found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the ovary has ruptured (broken open); or - tumor cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage II In stage II, the tumor is found in one or both ovaries and has spread into other areas of the pelvis. Stage II is divided into stage IIA, stage IIB, and stage IIC. - Stage IIA: The tumor has spread to the uterus and/or fallopian tubes (the long slender tubes through which eggs pass from the ovaries to the uterus). - Stage IIB: The tumor has spread to other tissue within the pelvis. - Stage IIC: The tumor is found inside one or both ovaries and has spread to the uterus and/or fallopian tubes, or to other tissue within the pelvis. Also, one of the following is true: - tumor cells are found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the ovary has ruptured (broken open); or - tumor cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage III In stage III, the tumor is found in one or both ovaries and has spread outside the pelvis to other parts of the abdomen and/or nearby lymph nodes. Stage III is divided into stage IIIA, stage IIIB, and stage IIIC. - Stage IIIA: The tumor is found in the pelvis only, but tumor cells that can be seen only with a microscope have spread to the surface of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen), the small intestines, or the tissue that connects the small intestines to the wall of the abdomen. - Stage IIIB: The tumor has spread to the peritoneum and the tumor in the peritoneum is 2 centimeters or smaller. - Stage IIIC: The tumor has spread to the peritoneum and the tumor in the peritoneum is larger than 2 centimeters and/or has spread to lymph nodes in the abdomen. The spread of tumor cells to the surface of the liver is also considered stage III disease. Stage IV In stage IV, tumor cells have spread beyond the abdomen to other parts of the body, such as the lungs or tissue inside the liver. Tumor cells in the fluid around the lungs is also considered stage IV disease. Ovarian low malignant potential tumors almost never reach stage IV.",CancerGov,Ovarian Low Malignant Potential Tumors +What are the treatments for Ovarian Low Malignant Potential Tumors ?,"Key Points + - There are different types of treatment for patients with ovarian low malignant potential tumor. - Two types of standard treatment are used: - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with ovarian low malignant potential tumor. + Different types of treatment are available for patients with ovarian low malignant potential tumor. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer, tumors, and related conditions. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Two types of standard treatment are used: + Surgery The type of surgery (removing the tumor in an operation) depends on the size and spread of the tumor and the womans plans for having children. Surgery may include the following: - Unilateral salpingo-oophorectomy: Surgery to remove one ovary and one fallopian tube. - Bilateral salpingo-oophorectomy: Surgery to remove both ovaries and both fallopian tubes. - Total hysterectomy and bilateral salpingo-oophorectomy: Surgery to remove the uterus, cervix, and both ovaries and fallopian tubes. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. - Partial oophorectomy: Surgery to remove part of one ovary or part of both ovaries. - Omentectomy: Surgery to remove the omentum (a piece of the tissue lining the abdominal wall). Even if the doctor removes all disease that can be seen at the time of the operation, the patient may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the tumor will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI Web site. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for disease are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose disease has not gotten better. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the disease may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. This is sometimes called re-staging. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the disease has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Ovarian Low Malignant Potential Tumors + + + Early Stage Ovarian Low Malignant Potential Tumors (Stage I and II) + Surgery is the standard treatment for early stage ovarian low malignant potential tumor. The type of surgery usually depends on whether a woman plans to have children. For women who plan to have children, surgery is either: - unilateral salpingo-oophorectomy; or - partial oophorectomy. To prevent recurrence of disease, most doctors recommend surgery to remove the remaining ovarian tissue when a woman no longer plans to have children. For women who do not plan to have children, treatment may be hysterectomy and bilateral salpingo-oophorectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I borderline ovarian surface epithelial-stromal tumor and stage II borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Late Stage Ovarian Low Malignant Potential Tumors (Stage III and IV) + Treatment for late stage ovarian low malignant potential tumor may be hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. A lymph node dissection may also be done. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III borderline ovarian surface epithelial-stromal tumor and stage IV borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Ovarian Low Malignant Potential Tumors + Treatment for recurrent ovarian low malignant potential tumor may include the following: - Surgery. - Surgery followed by chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent borderline ovarian surface epithelial-stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Ovarian Low Malignant Potential Tumors +what research (or clinical trials) is being done for Ovarian Low Malignant Potential Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI Web site. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for disease are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose disease has not gotten better. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database.",CancerGov,Ovarian Low Malignant Potential Tumors +What is (are) Chronic Eosinophilic Leukemia ?,"Key Points + - Chronic eosinophilic leukemia is a disease in which too many white blood cells (eosinophils) are made in the bone marrow. - Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. + + + Chronic eosinophilic leukemia is a disease in which too many white blood cells (eosinophils) are made in the bone marrow. + Eosinophils are white blood cells that react to allergens (substances that cause an allergic response) and help fight infections caused by certain parasites. In chronic eosinophilic leukemia, there are too many eosinophils in the blood, bone marrow, and other tissues. Chronic eosinophilic leukemia may stay the same for many years or it may progress quickly to acute leukemia.",CancerGov,Chronic Eosinophilic Leukemia +What are the symptoms of Chronic Eosinophilic Leukemia ?,"Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. Chronic eosinophilic leukemia may not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by chronic eosinophilic leukemia or by other conditions. Check with your doctor if you have any of the following: - Fever. - Feeling very tired. - Cough. - Swelling under the skin around the eyes and lips, in the throat, or on the hands and feet. - Muscle pain. - Itching. - Diarrhea.",CancerGov,Chronic Eosinophilic Leukemia +What are the treatments for Chronic Eosinophilic Leukemia ?,"Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Eosinophilic Leukemia +"What is (are) Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. - In the United States, ovarian cancer is the fifth leading cause of cancer death in women. - Different factors increase or decrease the risk of getting ovarian, fallopian tube, and primary peritoneal cancer. + + + Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. + The ovaries are a pair of organs in the female reproductive system. They are located in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries produce eggs and female hormones (chemicals that control the way certain cells or organs function). The fallopian tubes are a pair of long, slender tubes, one on each side of the uterus. Eggs pass from the ovaries, through the fallopian tubes, to the uterus. Cancer sometimes begins at the end of the fallopian tube near the ovary and spreads to the ovary. The peritoneum is the tissue that lines the abdominal wall and covers organs in the abdomen. Primary peritoneal cancer is cancer that forms in the peritoneum and has not spread there from another part of the body. Cancer sometimes begins in the peritoneum and spreads to the ovary. Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer form in the same type of tissue. Studies of screening tests look at these cancers together. See the following PDQ summaries for more information about ovarian, fallopian tube, and primary peritoneal cancers: - Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention - Genetics of Breast and Gynecologic Cancers - Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment - Ovarian Germ Cell Tumors Treatment - Ovarian Low Malignant Potential Tumors Treatment + + + In the United States, ovarian cancer is the fifth leading cause of cancer death in women. + Ovarian cancer is also the leading cause of death from cancer of the female reproductive system. Over the last 20 years, the number of new cases of ovarian cancer has gone down slightly in white women and in black women. Since 2005, the number of deaths from ovarian cancer also decreased slightly in white and black women.",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +"Who is at risk for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer? ?","Different factors increase or decrease the risk of getting ovarian, fallopian tube, and primary peritoneal cancer. + Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for ovarian cancer, see the Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention summary. Talk to your doctor about your risk of ovarian cancer. + + + Screening tests have risks. + Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to talk about the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer. + + + The risks of ovarian, fallopian tube, and primary peritoneal cancer screening tests include the following: + Finding ovarian, fallopian tube, and primary peritoneal cancer may not improve health or help a woman live longer. Screening may not improve your health or help you live longer if you have advanced ovarian cancer or if it has already spread to other places in your body. False-negative test results can occur. Screening test results may appear to be normal even though ovarian cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as a laparoscopy or a laparotomy to see if cancer is present), which also have risks. Problems caused by tests used to diagnose ovarian cancer include infection, blood loss, bowel injury, and heart and blood vessel problems. A false-positive test result can also lead to an unneeded oophorectomy (removal of one or both ovaries).",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +What is (are) Colon Cancer ?,"Key Points + - Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. - Health history affects the risk of developing colon cancer. - Signs of colon cancer include blood in the stool or a change in bowel habits. - Tests that examine the colon and rectum are used to detect (find) and diagnose colon cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. + The colon is part of the bodys digestive system. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The digestive system is made up of the esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are about 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). Gastrointestinal stromal tumors can occur in the colon. See the PDQ summary on Gastrointestinal Stromal Tumors Treatment for more information. See the PDQ summary about Unusual Cancers of Childhood Treatment for information about colorectal cancer in children.",CancerGov,Colon Cancer +Who is at risk for Colon Cancer? ?,"Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.",CancerGov,Colon Cancer +What are the symptoms of Colon Cancer ?,"Signs of colon cancer include blood in the stool or a change in bowel habits. These and other signs and symptoms may be caused by colon cancer or by other conditions. Check with your doctor if you have any of the following: - A change in bowel habits. - Blood (either bright red or very dark) in the stool. - Diarrhea, constipation, or feeling that the bowel does not empty all the way. - Stools that are narrower than usual. - Frequent gas pains, bloating, fullness, or cramps. - Weight loss for no known reason. - Feeling very tired. - Vomiting.",CancerGov,Colon Cancer +How to diagnose Colon Cancer ?,"Tests that examine the colon and rectum are used to detect (find) and diagnose colon cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal exam : An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum to feel for lumps or anything else that seems unusual. - Fecal occult blood test (FOBT): A test to check stool (solid waste) for blood that can only be seen with a microscope. A small sample of stool is placed on a special card or in a special container and returned to the doctor or laboratory for testing. Blood in the stool may be a sign of polyps, cancer, or other conditions. There are two types of FOBTs: - Guaiac FOBT : The sample of stool on the special card is tested with a chemical. If there is blood in the stool, the special card changes color. - Immunochemical FOBT : A liquid is added to the stool sample. This mixture is injected into a machine that contains antibodies that can detect blood in the stool. If there is blood in the stool, a line appears in a window in the machine. This test is also called fecal immunochemical test or FIT. - Barium enema : A series of x-rays of the lower gastrointestinal tract. A liquid that contains barium (a silver-white metallic compound) is put into the rectum. The barium coats the lower gastrointestinal tract and x-rays are taken. This procedure is also called a lower GI series. - Sigmoidoscopy : A procedure to look inside the rectum and sigmoid (lower) colon for polyps (small areas of bulging tissue), other abnormal areas, or cancer. A sigmoidoscope is inserted through the rectum into the sigmoid colon. A sigmoidoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - Colonoscopy : A procedure to look inside the rectum and colon for polyps, abnormal areas, or cancer. A colonoscope is inserted through the rectum into the colon. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - Virtual colonoscopy : A procedure that uses a series of x-rays called computed tomography to make a series of pictures of the colon. A computer puts the pictures together to create detailed images that may show polyps and anything else that seems unusual on the inside surface of the colon. This test is also called colonography or CT colonography. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.",CancerGov,Colon Cancer +What is the outlook for Colon Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer is in the inner lining of the colon only or has spread through the colon wall, or has spread to lymph nodes or other places in the body). - Whether the cancer has blocked or made a hole in the colon. - Whether there are any cancer cells left after surgery. - Whether the cancer has recurred. - The patients general health. The prognosis also depends on the blood levels of carcinoembryonic antigen (CEA) before treatment begins. CEA is a substance in the blood that may be increased when cancer is present.",CancerGov,Colon Cancer +What are the stages of Colon Cancer ?,"Key Points + - After colon cancer has been diagnosed, tests are done to find out if cancer cells have spread within the colon or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for colon cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After colon cancer has been diagnosed, tests are done to find out if cancer cells have spread within the colon or to other parts of the body. + The process used to find out if cancer has spread within the colon or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen or chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the colon. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Surgery : A procedure to remove the tumor and see how far it has spread through the colon. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Carcinoembryonic antigen (CEA) assay : A test that measures the level of CEA in the blood. CEA is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of colon cancer or other conditions. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if colon cancer spreads to the lung, the cancer cells in the lung are actually colon cancer cells. The disease is metastatic colon cancer, not lung cancer. + + + The following stages are used for colon cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the mucosa (innermost layer) of the colon wall. These abnormal cells may become cancer and spread. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed in the mucosa (innermost layer) of the colon wall and has spread to the submucosa (layer of tissue under the mucosa). Cancer may have spread to the muscle layer of the colon wall. Stage II Stage II colon cancer is divided into stage IIA, stage IIB, and stage IIC. - Stage IIA: Cancer has spread through the muscle layer of the colon wall to the serosa (outermost layer) of the colon wall. - Stage IIB: Cancer has spread through the serosa (outermost layer) of the colon wall but has not spread to nearby organs. - Stage IIC: Cancer has spread through the serosa (outermost layer) of the colon wall to nearby organs. Stage III Stage III colon cancer is divided into stage IIIA, stage IIIB, and stage IIIC. In stage IIIA: - Cancer has spread through the mucosa (innermost layer) of the colon wall to the submucosa (layer of tissue under the mucosa) and may have spread to the muscle layer of the colon wall. Cancer has spread to at least one but not more than 3 nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes; or - Cancer has spread through the mucosa (innermost layer) of the colon wall to the submucosa (layer of tissue under the mucosa). Cancer has spread to at least 4 but not more than 6 nearby lymph nodes. In stage IIIB: - Cancer has spread through the muscle layer of the colon wall to the serosa (outermost layer) of the colon wall or has spread through the serosa but not to nearby organs. Cancer has spread to at least one but not more than 3 nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes; or - Cancer has spread to the muscle layer of the colon wall or to the serosa (outermost layer) of the colon wall. Cancer has spread to at least 4 but not more than 6 nearby lymph nodes; or - Cancer has spread through the mucosa (innermost layer) of the colon wall to the submucosa (layer of tissue under the mucosa) and may have spread to the muscle layer of the colon wall. Cancer has spread to 7 or more nearby lymph nodes. In stage IIIC: - Cancer has spread through the serosa (outermost layer) of the colon wall but has not spread to nearby organs. Cancer has spread to at least 4 but not more than 6 nearby lymph nodes; or - Cancer has spread through the muscle layer of the colon wall to the serosa (outermost layer) of the colon wall or has spread through the serosa but has not spread to nearby organs. Cancer has spread to 7 or more nearby lymph nodes; or - Cancer has spread through the serosa (outermost layer) of the colon wall and has spread to nearby organs. Cancer has spread to one or more nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes. Stage IV Stage IV colon cancer is divided into stage IVA and stage IVB. - Stage IVA: Cancer may have spread through the colon wall and may have spread to nearby organs or lymph nodes. Cancer has spread to one organ that is not near the colon, such as the liver, lung, or ovary, or to a distant lymph node. - Stage IVB: Cancer may have spread through the colon wall and may have spread to nearby organs or lymph nodes. Cancer has spread to more than one organ that is not near the colon or into the lining of the abdominal wall.",CancerGov,Colon Cancer +What are the treatments for Colon Cancer ?,"Key Points + - There are different types of treatment for patients with colon cancer. - Six types of standard treatment are used: - Surgery - Radiofrequency ablation - Cryosurgery - Chemotherapy - Radiation therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with colon cancer. + Different types of treatment are available for patients with colon cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Six types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is the most common treatment for all stages of colon cancer. A doctor may remove the cancer using one of the following types of surgery: - Local excision: If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube with a cutting tool through the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp (a small bulging area of tissue), the operation is called a polypectomy. - Resection of the colon with anastomosis: If the cancer is larger, the doctor will perform a partial colectomy (removing the cancer and a small amount of healthy tissue around it). The doctor may then perform an anastomosis (sewing the healthy parts of the colon together). The doctor will also usually remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer. - Resection of the colon with colostomy: If the doctor is not able to sew the 2 ends of the colon back together, a stoma (an opening) is made on the outside of the body for waste to pass through. This procedure is called a colostomy. A bag is placed around the stoma to collect the waste. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. If the doctor needs to remove the entire lower colon, however, the colostomy may be permanent. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiofrequency ablation Radiofrequency ablation is the use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemoembolization of the hepatic artery may be used to treat cancer that has spread to the liver. This involves blocking the hepatic artery (the main artery that supplies blood to the liver) and injecting anticancer drugs between the blockage and the liver. The livers arteries then deliver the drugs throughout the liver. Only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on what is used to block the artery. The liver continues to receive some blood from the hepatic portal vein, which carries blood from the stomach and intestine. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Colon and Rectal Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used as palliative therapy to relieve symptoms and improve quality of life. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Types of targeted therapies used in the treatment of colon cancer include the following: - Monoclonal antibodies: Monoclonal antibodies are made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. - Bevacizumab and ramucirumab are types of monoclonal antibodies that bind to a protein called vascular endothelial growth factor (VEGF). This may prevent the growth of new blood vessels that tumors need to grow. - Cetuximab and panitumumab are types of monoclonal antibodies that bind to a protein called epidermal growth factor receptor (EGFR) on the surface of some types of cancer cells. This may stop cancer cells from growing and dividing. - Angiogenesis inhibitors: Angiogenesis inhibitors stop the growth of new blood vessels that tumors need to grow. - Ziv-aflibercept is a vascular endothelial growth factor trap that blocks an enzyme needed for the growth of new blood vessels in tumors. - Regorafenib is used to treat colorectal cancer that has spread to other parts of the body and has not gotten better with other treatment. It blocks the action of certain proteins, including vascular endothelial growth factor. This may help keep cancer cells from growing and may kill them. It may also prevent the growth of new blood vessels that tumors need to grow. See Drugs Approved for Colon and Rectal Cancer for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Colon Cancer + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 (carcinoma in situ) may include the following types of surgery: - Local excision or simple polypectomy. - Resection and anastomosis. This is done when the tumor is too large to remove by local excision. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Colon Cancer + Treatment of stage I colon cancer usually includes the following: - Resection and anastomosis. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Colon Cancer + Treatment of stage II colon cancer may include the following: - Resection and anastomosis. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Colon Cancer + Treatment of stage III colon cancer may include the following: - Resection and anastomosis which may be followed by chemotherapy. - Clinical trials of new chemotherapy regimens after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV and Recurrent Colon Cancer + Treatment of stage IV and recurrent colon cancer may include the following: - Local excision for tumors that have recurred. - Resection with or without anastomosis. - Surgery to remove parts of other organs, such as the liver, lungs, and ovaries, where the cancer may have recurred or spread. Treatment of cancer that has spread to the liver may also include the following: - Chemotherapy given before surgery to shrink the tumor, after surgery, or both before and after. - Radiofrequency ablation or cryosurgery, for patients who cannot have surgery. - Chemoembolization of the hepatic artery. - Radiation therapy or chemotherapy may be offered to some patients as palliative therapy to relieve symptoms and improve quality of life. - Chemotherapy and/or targeted therapy with a monoclonal antibody or an angiogenesis inhibitor. - Clinical trials of chemotherapy and/or targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV colon cancer and recurrent colon cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Colon Cancer +what research (or clinical trials) is being done for Colon Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Colon Cancer +What is (are) Liver (Hepatocellular) Cancer ?,"Key Points + - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is less common in the United States than in other parts of the world. - Having hepatitis or cirrhosis can increase the risk of developing liver cancer. + + + Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. + The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fats from food. - To store glycogen (sugar), which the body uses for energy. See the following PDQ summaries for more information about liver (hepatocellular) cancer: - Liver (Hepatocellular) Cancer Prevention - Adult Primary Liver Cancer Treatment - Childhood Liver Cancer Treatment + + + Liver cancer is less common in the United States than in other parts of the world. + Liver cancer is uncommon in the United States, but is the fourth most common cancer in the world. In the United States, men, especially Chinese American men, have a greater risk of developing liver cancer.",CancerGov,Liver (Hepatocellular) Cancer +Who is at risk for Liver (Hepatocellular) Cancer? ?,"Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for liver cancer include: - Having hepatitis B or hepatitis C; having both hepatitis B and hepatitis C increases the risk even more. - Having cirrhosis, which can be caused by: - hepatitis (especially hepatitis C); or - drinking large amounts of alcohol for many years or being an alcoholic. - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).",CancerGov,Liver (Hepatocellular) Cancer +What is (are) Testicular Cancer ?,"Key Points + - Testicular cancer is a disease in which malignant (cancer) cells form in the tissues of one or both testicles. - Testicular cancer is the most common cancer in men aged 15 to 34 years. - Testicular cancer can usually be cured. - A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. + + + Testicular cancer is a disease in which malignant (cancer) cells form in the tissues of one or both testicles. + The testicles are 2 egg-shaped glands inside the scrotum (a sac of loose skin that lies directly below the penis). The testicles are held within the scrotum by the spermatic cord. The spermatic cord also contains the vas deferens and vessels and nerves of the testicles. The testicles are the male sex glands and make testosterone and sperm. Germ cells in the testicles make immature sperm. These sperm travel through a network of tubules (tiny tubes) and larger tubes into the epididymis (a long coiled tube next to the testicles). This is where the sperm mature and are stored. Almost all testicular cancers start in the germ cells. The two main types of testicular germ cell tumors are seminomas and nonseminomas. See the PDQ summary on Testicular Cancer Treatment for more information about testicular cancer.",CancerGov,Testicular Cancer +Who is at risk for Testicular Cancer? ?,"Testicular cancer is the most common cancer in men aged 15 to 34 years. Testicular cancer is very rare, but it is the most common cancer found in men between the ages of 15 and 34. White men are four times more likely than black men to have testicular cancer",CancerGov,Testicular Cancer +What is the outlook for Testicular Cancer ?,"Testicular cancer can usually be cured. Although the number of new cases of testicular cancer has doubled in the last 40 years, the number of deaths caused by testicular cancer has decreased greatly because of better treatments. Testicular cancer can usually be cured, even in late stages of the disease. (See the PDQ summary on Testicular Cancer Treatment for more information.)",CancerGov,Testicular Cancer +Who is at risk for Testicular Cancer? ?,"A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for testicular cancer include the following: - Having cryptorchidism (an undescended testicle). - Having a testicle that is not normal, such as a small testicle that does not work the way it should. - Having testicular carcinoma in situ. - Being white. - Having a personal or family history of testicular cancer. - Having Klinefelter syndrome. Men who have cryptorchidism, a testicle that is not normal, or testicular carcinoma in situ have an increased risk of testicular cancer in one or both testicles, and need to be followed closely.",CancerGov,Testicular Cancer +What is (are) Intraocular (Uveal) Melanoma ?,"Key Points + - Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye. - Being older and having fair skin may increase the risk of intraocular melanoma. - Signs of intraocular melanoma include blurred vision or a dark spot on the iris. - Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma. - A biopsy of the tumor is rarely needed to diagnose intraocular melanoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye. + Intraocular melanoma begins in the middle of three layers of the wall of the eye. The outer layer includes the white sclera (the ""white of the eye"") and the clear cornea at the front of the eye. The inner layer has a lining of nerve tissue, called the retina, which senses light and sends images along the optic nerve to the brain. The middle layer, where intraocular melanoma forms, is called the uvea or uveal tract, and has three main parts: - Iris The iris is the colored area at the front of the eye (the ""eye color""). It can be seen through the clear cornea. The pupil is in the center of the iris and it changes size to let more or less light into the eye. Intraocular melanoma of the iris is usually a small tumor that grows slowly and rarely spreads to other parts of the body. - Ciliary body The ciliary body is a ring of tissue with muscle fibers that change the size of the pupil and the shape of the lens. It is found behind the iris. Changes in the shape of the lens help the eye focus. The ciliary body also makes the clear fluid that fills the space between the cornea and the iris. Intraocular melanoma of the ciliary body is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris. - Choroid The choroid is a layer of blood vessels that bring oxygen and nutrients to the eye. Most intraocular melanomas begin in the choroid. Intraocular melanoma of the choroid is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris. Intraocular melanoma is a rare cancer that forms from cells that make melanin in the iris, ciliary body, and choroid. It is the most common eye cancer in adults.",CancerGov,Intraocular (Uveal) Melanoma +Who is at risk for Intraocular (Uveal) Melanoma? ?,"Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for intraocular melanoma include the following: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Older age. - Being white.",CancerGov,Intraocular (Uveal) Melanoma +What are the symptoms of Intraocular (Uveal) Melanoma ?,Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other conditions. Check with your doctor if you have any of the following: - Blurred vision or other change in vision. - Floaters (spots that drift in your field of vision) or flashes of light. - A dark spot on the iris. - A change in the size or shape of the pupil. - A change in the position of the eyeball in the eye socket.,CancerGov,Intraocular (Uveal) Melanoma +How to diagnose Intraocular (Uveal) Melanoma ?,"Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Eye exam with dilated pupil: An exam of the eye in which the pupil is dilated (enlarged) with medicated eye drops to allow the doctor to look through the lens and pupil to the retina. The inside of the eye, including the retina and the optic nerve, is checked. Pictures may be taken over time to keep track of changes in the size of the tumor. There are several types of eye exams: - Ophthalmoscopy : An exam of the inside of the back of the eye to check the retina and optic nerve using a small magnifying lens and a light. - Slit-lamp biomicroscopy : An exam of the inside of the eye to check the retina, optic nerve, and other parts of the eye using a strong beam of light and a microscope. - Gonioscopy : An exam of the front part of the eye between the cornea and iris. A special instrument is used to see if the area where fluid drains out of the eye is blocked. - Ultrasound exam of the eye: A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a picture of the inside of the eye and the distance from the cornea to the retina is measured. The picture, called a sonogram, shows on the screen of the ultrasound monitor. - High-resolution ultrasound biomicroscopy : A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a more detailed picture of the inside of the eye than a regular ultrasound. The tumor is checked for its size, shape, and thickness, and for signs that the tumor has spread to nearby tissue. - Transillumination of the globe and iris: An exam of the iris, cornea, lens, and ciliary body with a light placed on either the upper or lower lid. - Fluorescein angiography : A procedure to look at blood vessels and the flow of blood inside the eye. An orange fluorescent dye (fluorescein) is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any areas that are blocked or leaking. - Indocyanine green angiography: A procedure to look at blood vessels in the choroid layer of the eye. A green dye (indocyanine green) is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any areas that are blocked or leaking. - Ocular coherence tomography : An imaging test that uses light waves to take cross-section pictures of the retina, and sometimes the choroid, to see if there is swelling or fluid beneath the retina. + + + A biopsy of the tumor is rarely needed to diagnose intraocular melanoma. + A biopsy is the removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. Rarely, a biopsy of the tumor is needed to diagnose intraocular melanoma. Tissue that is removed during a biopsy or surgery to remove the tumor may be tested to get more information about prognosis and which treatment options are best. The following tests may be done on the sample of tissue: - Cytogenetic analysis: A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Gene expression profiling : A laboratory test in which cells in a sample of tissue are checked for certain types of RNA. A biopsy may result in retinal detachment (the retina separates from other tissues in the eye). This can be repaired by surgery.",CancerGov,Intraocular (Uveal) Melanoma +What is the outlook for Intraocular (Uveal) Melanoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - How the melanoma cells look under a microscope. - The size and thickness of the tumor. - The part of the eye the tumor is in (the iris, ciliary body, or choroid). - Whether the tumor has spread within the eye or to other places in the body. - Whether there are certain changes in the genes linked to intraocular melanoma. - The patient's age and general health. - Whether the tumor has recurred (come back) after treatment.",CancerGov,Intraocular (Uveal) Melanoma +What are the stages of Intraocular (Uveal) Melanoma ?,"Key Points + - After intraocular melanoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - The following sizes are used to describe intraocular melanoma: - Small - Medium - Large - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There are two staging systems for intraocular melanoma. - The following stages are used for intraocular melanoma of the iris: - Stage I - Stage II - Stage III - Stage IV - The following stages are used for intraocular melanoma of the ciliary body and choroid: - Stage I - Stage II - Stage III - Stage IV + + + After intraocular melanoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign the cancer has spread to the liver. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the liver, and make echoes. The echoes form a picture of body tissues called a sonogram. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A very small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. + + + The following sizes are used to describe intraocular melanoma: + Small The tumor is 5 to 16 millimeters in diameter and from 1 to 3 millimeters thick. Medium The tumor is 16 millimeters or smaller in diameter and from 3.1 to 8 millimeters thick. Large The tumor is: - more than 8 millimeters thick and any diameter; or - at least 2 millimeters thick and more than 16 millimeters in diameter. Though most intraocular melanoma tumors are raised, some are flat. These diffuse tumors grow widely across the uvea. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if intraocular melanoma spreads to the liver, the cancer cells in the liver are actually intraocular melanoma cells. The disease is metastatic intraocular melanoma, not liver cancer. + + + There are two staging systems for intraocular melanoma. + Intraocular melanoma has two staging systems. The staging system used depends on where in the eye the cancer first formed: - Iris. - Ciliary body and choroid. If intraocular melanoma spreads to the optic nerve or nearby tissue of the eye socket, it is called extraocular extension. + + + The following stages are used for intraocular melanoma of the iris: + Stage I In stage I, the tumor is in the iris only and is not more than one fourth the size of the iris. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA, the tumor: - is in the iris only and is more than one fourth the size of the iris; or - is in the iris only and has caused glaucoma; or - has spread next to and/or into the ciliary body, choroid, or both. The tumor has caused glaucoma. - In stage IIB, the tumor has spread next to and/or into the ciliary body, choroid, or both, and has also spread into the sclera. The tumor has caused glaucoma. Stage III Stage III is divided into stages IIIA and IIIB. - In stage IIIA, the tumor has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. - In stage IIIB, the tumor has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is more than 5 millimeters thick. Stage IV In stage IV, the tumor may be any size and has spread: - to nearby lymph nodes; or - to other parts of the body, such as the liver, lung, or bone, or to areas under the skin. + + + The following stages are used for intraocular melanoma of the ciliary body and choroid: + Intraocular melanoma of the ciliary body and choroid is grouped into four size categories. The category depends on how wide and thick the tumor is. Category 1 tumors are the smallest and category 4 tumors are the biggest. Category 1: - The tumor is not more than 12 millimeters wide and not more than 3 millimeters thick; or - the tumor is not more than 9 millimeters wide and 3.1 to 6 millimeters thick. Category 2: - The tumor is 12.1 to 18 millimeters wide and not more than 3 millimeters thick; or - the tumor is 9.1 to 15 millimeters wide and 3.1 to 6 millimeters thick; or - the tumor is not more than 12 millimeters wide and 6.1 to 9 millimeters thick. Category 3: - The tumor is 15.1 to 18 millimeters wide and 3.1 to 6 millimeters thick; or - the tumor is 12.1 to 18 millimeters wide and 6.1 to 9 millimeters thick; or - the tumor is 3.1 to 18 millimeters wide and 9.1 to 12 millimeters thick; or - the tumor is 9.1 to 15 millimeters wide and 12.1 to 15 millimeters thick. Category 4: - The tumor is more than 18 millimeters wide and may be any thickness; or - the tumor is 15.1 to 18 millimeters wide and more than 12 millimeters thick; or - the tumor is 12.1 to 15 millimeters wide and more than 15 millimeters thick. Stage I In stage I, the tumor is size category 1 and is in the choroid only. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA, the tumor: - is size category 1 and has spread to the ciliary body; or - is size category 1 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor may have spread to the ciliary body; or - is size category 2 and is in the choroid only. - In stage IIB, the tumor: - is size category 2 and has spread to the ciliary body; or - is size category 3 and is in the choroid only. Stage III Stage III is divided into stages IIIA, IIIB, and IIIC. - In stage IIIA, the tumor: - is size category 2 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor may have spread to the ciliary body; or - is size category 3 and has spread to the ciliary body; or - is size category 3 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor has not spread to the ciliary body; or - is size category 4 and is in the choroid only. - In stage IIIB, the tumor: - is size category 3 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor has spread to the ciliary body; or - is size category 4 and has spread to the ciliary body; or - is size category 4 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor has not spread to the ciliary body. - In stage IIIC, the tumor: - is size category 4 and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is not more than 5 millimeters thick. The tumor has spread to the ciliary body; or - may be any size and has spread through the sclera to the outside of the eyeball. The part of the tumor outside the eyeball is more than 5 millimeters thick. The tumor has not spread to the ciliary body. Stage IV In stage IV, the tumor may be any size and has spread: - to nearby lymph nodes; or - to other parts of the body, such as the liver, lung, or bone, or to areas under the skin.",CancerGov,Intraocular (Uveal) Melanoma +What are the treatments for Intraocular (Uveal) Melanoma ?,"Key Points + - There are different types of treatments for patients with intraocular melanoma. - Five types of standard treatment are used: - Surgery - Watchful Waiting - Radiation therapy - Photocoagulation - Thermotherapy - New types of treatment are being tested in clinical trials. - Treatment for intraocular (uveal) melanoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatments for patients with intraocular melanoma. + Different types of treatments are available for patients with intraocular melanoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery is the most common treatment for intraocular melanoma. The following types of surgery may be used: - Resection: Surgery to remove the tumor and a small amount of healthy tissue around it. - Enucleation: Surgery to remove the eye and part of the optic nerve. This is done if vision cannot be saved and the tumor is large, has spread to the optic nerve, or causes high pressure inside the eye. After surgery, the patient is usually fitted for an artificial eye to match the size and color of the other eye. - Exenteration: Surgery to remove the eye and eyelid, and muscles, nerves, and fat in the eye socket. After surgery, the patient may be fitted for an artificial eye to match the size and color of the other eye or a facial prosthesis. Watchful Waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Pictures are taken over time to keep track of changes in the size of the tumor and how fast it is growing. Watchful waiting is used for patients who do not have signs or symptoms and the tumor is not growing. It is also used when the tumor is in the only eye with useful vision. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of external radiation therapy include the following: - Charged-particle external beam radiation therapy is a type of external-beam radiation therapy. A special radiation therapy machine aims tiny, invisible particles, called protons or helium ions, at the cancer cells to kill them with little damage to nearby normal tissues. Charged-particle radiation therapy uses a different type of radiation than the x-ray type of radiation therapy. - Gamma Knife therapy is a type of stereotactic radiosurgery used for some melanomas. This treatment can be given in one treatment. It aims tightly focused gamma rays directly at the tumor so there is little damage to healthy tissue. Gamma Knife therapy does not use a knife to remove the tumor and is not an operation. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging healthy tissue. This type of internal radiation therapy may include the following: - Localized plaque radiation therapy is a type of internal radiation therapy that may be used for tumors of the eye. Radioactive seeds are attached to one side of a disk, called a plaque, and placed directly on the outside wall of the eye near the tumor. The side of the plaque with the seeds on it faces the eyeball, aiming radiation at the tumor. The plaque helps protect other nearby tissue from the radiation. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat intraocular melanoma. Photocoagulation Photocoagulation is a procedure that uses laser light to destroy blood vessels that bring nutrients to the tumor, causing the tumor cells to die. Photocoagulation may be used to treat small tumors. This is also called light coagulation. Thermotherapy Thermotherapy is the use of heat from a laser to destroy cancer cells and shrink the tumor. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Treatment for intraocular (uveal) melanoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Intraocular (Uveal) Melanoma + + + Iris Melanoma + Treatment of iris melanoma may include the following: - Watchful waiting. - Surgery (resection or enucleation). - Plaque radiation therapy, for tumors that cannot be removed by surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with iris melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Ciliary Body Melanoma + Treatment of tumors in the ciliary body and choroid may include the following: - Plaque radiation therapy. - Charged-particle external-beam radiation therapy. - Surgery (resection or enucleation). Check the list of NCI-supported cancer clinical trials that are now accepting patients with ciliary body and choroid melanoma, small size. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Choroid Melanoma + Treatment of small choroid melanoma may include the following: - Watchful waiting. - Plaque radiation therapy. - Charged-particle external-beam radiation therapy. - Gamma Knife therapy. - Thermotherapy. - Surgery (resection or enucleation). Treatment of medium choroid melanoma may include the following: - Plaque radiation therapy with or without photocoagulation or thermotherapy. - Charged-particle external-beam radiation therapy. - Surgery (resection or enucleation). Treatment of large choroid melanoma may include the following: - Enucleation when the tumor is too large for treatments that save the eye. Check the list of NCI-supported cancer clinical trials that are now accepting patients with ciliary body and choroid melanoma, small size. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Extraocular Extension Melanoma and Metastatic Intraocular (Uveal) Melanoma + Treatment of extraocular extension melanoma that has spread to the bone around the eye may include the following: - Surgery (exenteration). - A clinical trial. An effective treatment for metastatic intraocular melanoma has not been found. A clinical trial may be a treatment option. Talk with your doctor about your treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extraocular extension melanoma and metastatic intraocular melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Intraocular (Uveal) Melanoma + An effective treatment for recurrent intraocular melanoma has not been found. A clinical trial may be a treatment option. Talk with your doctor about your treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent intraocular melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Intraocular (Uveal) Melanoma +what research (or clinical trials) is being done for Intraocular (Uveal) Melanoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Intraocular (Uveal) Melanoma +What is (are) Hypopharyngeal Cancer ?,"Key Points + - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. + The hypopharynx is the bottom part of the pharynx (throat). The pharynx is a hollow tube about 5 inches long that starts behind the nose, goes down the neck, and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. Most hypopharyngeal cancers form in squamous cells, the thin, flat cells lining the inside of the hypopharynx. The hypopharynx has 3 different areas. Cancer may be found in 1 or more of these areas. Hypopharyngeal cancer is a type of head and neck cancer.",CancerGov,Hypopharyngeal Cancer +Who is at risk for Hypopharyngeal Cancer? ?,Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors include the following: - Smoking tobacco. - Chewing tobacco. - Heavy alcohol use. - Eating a diet without enough nutrients. - Having Plummer-Vinson syndrome.,CancerGov,Hypopharyngeal Cancer +What are the symptoms of Hypopharyngeal Cancer ?,Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by hypopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Ear pain. - A lump in the neck. - Painful or difficult swallowing. - A change in voice.,CancerGov,Hypopharyngeal Cancer +How to diagnose Hypopharyngeal Cancer ?,"Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. The following tests and procedures may be used: - Physical exam of the throat: An exam in which the doctor feels for swollen lymph nodes in the neck and looks down the throat with a small, long-handled mirror to check for abnormal areas. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - Barium esophagogram: An x-ray of the esophagus. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and x-rays are taken. - Endoscopy : A procedure used to look at areas in the throat that cannot be seen with a mirror during the physical exam of the throat. An endoscope (a thin, lighted tube) is inserted through the nose or mouth to check the throat for anything that seems unusual. Tissue samples may be taken for biopsy. - Esophagoscopy : A procedure to look inside the esophagus to check for abnormal areas. An esophagoscope (a thin, lighted tube) is inserted through the mouth or nose and down the throat into the esophagus. Tissue samples may be taken for biopsy. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope (a thin, lighted tube) is inserted through the nose or mouth into the trachea and lungs. Tissue samples may be taken for biopsy. - Biopsy: The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer.",CancerGov,Hypopharyngeal Cancer +What is the outlook for Hypopharyngeal Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer (whether it affects part of the hypopharynx, involves the whole hypopharynx, or has spread to other places in the body). Hypopharyngeal cancer is usually detected in later stages because early signs and symptoms rarely occur. - The patient's age, gender, and general health. - The location of the cancer. - Whether the patient smokes during radiation therapy. Treatment options depend on the following: - The stage of the cancer. - Keeping the patient's ability to talk, eat, and breathe as normal as possible. - The patient's general health. Patients who have had hypopharyngeal cancer are at an increased risk of developing a second cancer in the head or neck. Frequent and careful follow-up is important.",CancerGov,Hypopharyngeal Cancer +What are the stages of Hypopharyngeal Cancer ?,"Key Points + - After hypopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the hypopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for hypopharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After hypopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the hypopharynx or to other parts of the body. + The process used to find out if cancer has spread within the hypopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of some of the tests used to diagnose hypopharyngeal cancer are often also used to stage the disease. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if hypopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually hypopharyngeal cancer cells. The disease is metastatic hypopharyngeal cancer, not lung cancer. + + + The following stages are used for hypopharyngeal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the hypopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed in one area of the hypopharynx only and/or the tumor is 2 centimeters or smaller. Stage II In stage II, the tumor is either: - larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx (voice box); or - found in more than one area of the hypopharynx or in nearby tissues. Stage III In stage III, the tumor: - is larger than 4 centimeters or has spread to the larynx (voice box) or esophagus. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller and cancer is found: - in one area of the hypopharynx and/or is 2 centimeters or smaller; or - in more than one area of the hypopharynx or in nearby tissues, or is larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx. Stage IV Stage IV is divided into stage IVA, IVB, and IVC as follows: - In stage IVA, cancer: - has spread to cartilage around the thyroid or trachea, the bone under the tongue, the thyroid, or nearby soft tissue. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor (the lymph node is larger than 3 centimeters but not larger than 6 centimeters) or to lymph nodes anywhere in the neck (affected lymph nodes are 6 centimeters or smaller), and one of the following is true: - cancer is found in one area of the hypopharynx and/or is 2 centimeters or smaller; or - cancer is found in more than one area of the hypopharynx or in nearby tissues, or is larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx (voice box); or - cancer has spread to the larynx or esophagus and is more than 4 centimeters; or - cancer has spread to cartilage around the thyroid or trachea, the bone under the tongue, the thyroid, or nearby soft tissue. - In stage IVB, the tumor: - has spread to muscles around the upper part of the spinal column, the carotid artery, or the lining of the chest cavity and may have spread to lymph nodes which can be any size; or - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters. - In stage IVC, the tumor may be any size and has spread beyond the hypopharynx to other parts of the body.",CancerGov,Hypopharyngeal Cancer +What are the treatments for Hypopharyngeal Cancer ?,"Key Points + - There are different types of treatment for patients with hypopharyngeal cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with hypopharyngeal cancer. + Different types of treatment are available for patients with hypopharyngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of hypopharyngeal cancer. The following surgical procedures may be used: - Laryngopharyngectomy: Surgery to remove the larynx (voice box) and part of the pharynx (throat). - Partial laryngopharyngectomy: Surgery to remove part of the larynx and part of the pharynx. A partial laryngopharyngectomy prevents loss of the voice. - Neck dissection: Surgery to remove lymph nodes and other tissues in the neck. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat hypopharyngeal cancer. Radiation therapy may work better in patients who have stopped smoking before beginning treatment. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. A blood test to check the thyroid hormone level in the body may be done before and after therapy to make sure the thyroid gland is working properly. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy may be used to shrink the tumor before surgery or radiation therapy. This is called neoadjuvant chemotherapy. See Drugs Approved for Head and Neck Cancer for more information. (Hypopharyngeal cancer is a type of head and neck cancer.) + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. For hypopharyngeal cancer, follow-up to check for recurrence should include careful head and neck exams once a month in the first year after treatment ends, every 2 months in the second year, every 3 months in the third year, and every 6 months thereafter. + + + Treatment Options by Stage + + + Stage I Hypopharyngeal Cancer + Treatment of stage I hypopharyngeal cancer may include the following: - Laryngopharyngectomy and neck dissection with or without high-dose radiation therapy to the lymph nodes of the neck. - Partial laryngopharyngectomy with or without high-dose radiation therapy to the lymph nodes on both sides of the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Hypopharyngeal Cancer + Treatment of stage II hypopharyngeal cancer may include the following: - Laryngopharyngectomy and neck dissection. High-dose radiation therapy to the lymph nodes of the neck may be given before or after surgery. - Partial laryngopharyngectomy. High-dose radiation therapy to the lymph nodes of the neck may be given before or after surgery. - Chemotherapy given during or after radiation therapy or after surgery. - A clinical trial of chemotherapy followed by radiation therapy or surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Hypopharyngeal Cancer + Treatment of stage III hypopharyngeal cancer may include the following: - Radiation therapy before or after surgery. - Chemotherapy given during or after radiation therapy or after surgery. - A clinical trial of chemotherapy followed by surgery and/or radiation therapy. - A clinical trial of chemotherapy given at the same time as radiation therapy. - A clinical trial of surgery followed by chemotherapy given at the same time as radiation therapy. Treatment and follow-up of stage III hypopharyngeal cancer is complex and is ideally overseen by a team of specialists with experience and expertise in treating this type of cancer. If all or part of the hypopharynx is removed, the patient may need plastic surgery and other special help with breathing, eating, and talking. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Hypopharyngeal Cancer + Treatment of stage IV hypopharyngeal cancer that can be treated with surgery may include the following: - Radiation therapy before or after surgery. - A clinical trial of chemotherapy followed by surgery and/or radiation therapy. - A clinical trial of surgery followed by chemotherapy given at the same time as radiation therapy. Surgical treatment and follow-up of stage IV hypopharyngeal cancer is complex and is ideally overseen by a team of specialists with experience and expertise in treating this type of cancer. If all or part of the hypopharynx is removed, the patient may need plastic surgery and other special help with breathing, eating, and talking. Treatment of stage IV hypopharyngeal cancer that cannot be treated with surgery may include the following: - Radiation therapy. - Chemotherapy given at the same time as radiation therapy. - A clinical trial of radiation therapy with chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV hypopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Hypopharyngeal Cancer +what research (or clinical trials) is being done for Hypopharyngeal Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Hypopharyngeal Cancer +"What is (are) Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ?","Key Points + - Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. - Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. + + + Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. + In myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPD-UC), the body tells too many blood stem cells to become red blood cells, white blood cells, or platelets. Some of these blood stem cells never become mature blood cells. These immature blood cells are called blasts. Over time, the abnormal blood cells and blasts in the bone marrow crowd out the healthy red blood cells, white blood cells, and platelets. MDS/MPN-UC is a very rare disease. Because it is so rare, the factors that affect risk and prognosis are not known.",CancerGov,"Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable" +"What are the symptoms of Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ?","Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by MDS/MPN-UC or by other conditions. Check with your doctor if you have any of the following: - Fever or frequent infections. - Shortness of breath. - Feeling very tired and weak. - Pale skin. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain or a feeling of fullness below the ribs.",CancerGov,"Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable" +"What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ?","Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. - Targeted therapy (imatinib mesylate). Check the list of NCI-supported cancer clinical trials that are now accepting patients with myelodysplastic/myeloproliferative neoplasm, unclassifiable. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,"Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable" +What is (are) Rectal Cancer ?,"Key Points + - Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum. - Health history affects the risk of developing rectal cancer. - Signs of rectal cancer include a change in bowel habits or blood in the stool. - Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum. + The rectum is part of the bodys digestive system. The digestive system takes in nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The digestive system is made up of the esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). See the following PDQ summaries for more information about rectal cancer: - Unusual Cancers of Childhood Treatment (see Colorectal Cancer section) - Colorectal Cancer Prevention - Colorectal Cancer Screening - Gastrointestinal Stromal Tumors Treatment - Genetics of Colorectal Cancer",CancerGov,Rectal Cancer +Who is at risk for Rectal Cancer? ?,"Health history affects the risk of developing rectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.",CancerGov,Rectal Cancer +What are the symptoms of Rectal Cancer ?,"Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. - A change in bowel habits. - Diarrhea. - Constipation. - Feeling that the bowel does not empty completely. - Stools that are narrower or have a different shape than usual. - General abdominal discomfort (frequent gas pains, bloating, fullness, or cramps). - Change in appetite. - Weight loss for no known reason. - Feeling very tired.",CancerGov,Rectal Cancer +How to diagnose Rectal Cancer ?,"Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. Tests used to diagnose rectal cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal exam (DRE): An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. In women, the vagina may also be examined. - Colonoscopy : A procedure to look inside the rectum and colon for polyps (small pieces of bulging tissue), abnormal areas, or cancer. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. Tumor tissue that is removed during the biopsy may be checked to see if the patient is likely to have the gene mutation that causes HNPCC. This may help to plan treatment. The following tests may be used: - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Carcinoembryonic antigen (CEA) assay : A test that measures the level of CEA in the blood. CEA is released into the bloodstream from both cancer cells and normal cells. When found in higher than normal amounts, it can be a sign of rectal cancer or other conditions.",CancerGov,Rectal Cancer +What is the outlook for Rectal Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects the inner lining of the rectum only, involves the whole rectum, or has spread to lymph nodes, nearby organs, or other places in the body). - Whether the tumor has spread into or through the bowel wall. - Where the cancer is found in the rectum. - Whether the bowel is blocked or has a hole in it. - Whether all of the tumor can be removed by surgery. - The patients general health. - Whether the cancer has just been diagnosed or has recurred (come back).",CancerGov,Rectal Cancer +What are the stages of Rectal Cancer ?,"Key Points + - After rectal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the rectum or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for rectal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After rectal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the rectum or to other parts of the body. + The process used to find out whether cancer has spread within the rectum or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Colonoscopy : A procedure to look inside the rectum and colon for polyps (small pieces of bulging tissue). abnormal areas, or cancer. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, pelvis, or chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Endorectal ultrasound : A procedure used to examine the rectum and nearby organs. An ultrasound transducer (probe) is inserted into the rectum and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram. This procedure is also called transrectal ultrasound. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if rectal cancer spreads to the lung, the cancer cells in the lung are actually rectal cancer cells. The disease is metastatic rectal cancer, not lung cancer. + + + The following stages are used for rectal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the mucosa (innermost layer) of the rectum wall. These abnormal cells may become cancer and spread. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed in the mucosa (innermost layer) of the rectum wall and has spread to the submucosa (layer of tissue under the mucosa). Cancer may have spread to the muscle layer of the rectum wall. Stage II Stage II rectal cancer is divided into stage IIA, stage IIB, and stage IIC. - Stage IIA: Cancer has spread through the muscle layer of the rectum wall to the serosa (outermost layer) of the rectum wall. - Stage IIB: Cancer has spread through the serosa (outermost layer) of the rectum wall but has not spread to nearby organs. - Stage IIC: Cancer has spread through the serosa (outermost layer) of the rectum wall to nearby organs. Stage III Stage III rectal cancer is divided into stage IIIA, stage IIIB, and stage IIIC. In stage IIIA: - Cancer has spread through the mucosa (innermost layer) of the rectum wall to the submucosa (layer of tissue under the mucosa) and may have spread to the muscle layer of the rectum wall. Cancer has spread to at least one but not more than 3 nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes; or - Cancer has spread through the mucosa (innermost layer) of the rectum wall to the submucosa (layer of tissue under the mucosa). Cancer has spread to at least 4 but not more than 6 nearby lymph nodes. In stage IIIB: - Cancer has spread through the muscle layer of the rectum wall to the serosa (outermost layer) of the rectum wall or has spread through the serosa but not to nearby organs. Cancer has spread to at least one but not more than 3 nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes; or - Cancer has spread to the muscle layer of the rectum wall or to the serosa (outermost layer) of the rectum wall. Cancer has spread to at least 4 but not more than 6 nearby lymph nodes; or - Cancer has spread through the mucosa (innermost layer) of the rectum wall to the submucosa (layer of tissue under the mucosa) and may have spread to the muscle layer of the rectum wall. Cancer has spread to 7 or more nearby lymph nodes. In stage IIIC: - Cancer has spread through the serosa (outermost layer) of the rectum wall but has not spread to nearby organs. Cancer has spread to at least 4 but not more than 6 nearby lymph nodes; or - Cancer has spread through the muscle layer of the rectum wall to the serosa (outermost layer) of the rectum wall or has spread through the serosa but has not spread to nearby organs. Cancer has spread to 7 or more nearby lymph nodes; or - Cancer has spread through the serosa (outermost layer) of the rectum wall and has spread to nearby organs. Cancer has spread to one or more nearby lymph nodes or cancer cells have formed in tissues near the lymph nodes. Stage IV Stage IV rectal cancer is divided into stage IVA and stage IVB. - Stage IVA: Cancer may have spread through the rectum wall and may have spread to nearby organs or lymph nodes. Cancer has spread to one organ that is not near the rectum, such as the liver, lung, or ovary, or to a distant lymph node. - Stage IVB: Cancer may have spread through the rectum wall and may have spread to nearby organs or lymph nodes. Cancer has spread to more than one organ that is not near the rectum or into the lining of the abdominal wall.",CancerGov,Rectal Cancer +What are the treatments for Rectal Cancer ?,"Key Points + - There are different types of treatment for patients with rectal cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Active surveillance - Targeted therapy - Other types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with rectal cancer. + Different types of treatment are available for patients with rectal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery is the most common treatment for all stages of rectal cancer. The cancer is removed using one of the following types of surgery: - Polypectomy: If the cancer is found in a polyp (a small piece of bulging tissue), the polyp is often removed during a colonoscopy. - Local excision: If the cancer is found on the inside surface of the rectum and has not spread into the wall of the rectum, the cancer and a small amount of surrounding healthy tissue is removed. - Resection: If the cancer has spread into the wall of the rectum, the section of the rectum with cancer and nearby healthy tissue is removed. Sometimes the tissue between the rectum and the abdominal wall is also removed. The lymph nodes near the rectum are removed and checked under a microscope for signs of cancer. - Radiofrequency ablation: The use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. - Pelvic exenteration: If the cancer has spread to other organs near the rectum, the lower colon, rectum, and bladder are removed. In women, the cervix, vagina, ovaries, and nearby lymph nodes may be removed. In men, the prostate may be removed. Artificial openings (stoma) are made for urine and stool to flow from the body to a collection bag. After the cancer is removed, the surgeon will either: - do an anastomosis (sew the healthy parts of the rectum together, sew the remaining rectum to the colon, or sew the colon to the anus); or - make a stoma (an opening) from the rectum to the outside of the body for waste to pass through. This procedure is done if the cancer is too close to the anus and is called a colostomy. A bag is placed around the stoma to collect the waste. Sometimes the colostomy is needed only until the rectum has healed, and then it can be reversed. If the entire rectum is removed, however, the colostomy may be permanent. Radiation therapy and/or chemotherapy may be given before surgery to shrink the tumor, make it easier to remove the cancer, and help with bowel control after surgery. Treatment given before surgery is called neoadjuvant therapy. Even if all the cancer that can be seen at the time of the operation is removed, some patients may be given radiation therapy and/or chemotherapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat rectal cancer. Short-course preoperative radiation therapy is used in some types of rectal cancer. This treatment uses fewer and lower doses of radiation than standard treatment, followed by surgery several days after the last dose. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemoembolization of the hepatic artery is a type of regional chemotherapy that may be used to treat cancer that has spread to the liver. This is done by blocking the hepatic artery (the main artery that supplies blood to the liver) and injecting anticancer drugs between the blockage and the liver. The livers arteries then carry the drugs into the liver. Only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on what is used to block the artery. The liver continues to receive some blood from the hepatic portal vein, which carries blood from the stomach and intestine. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Rectal Cancer for more information. Active surveillance Active surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the condition is getting worse. In active surveillance, patients are given certain exams and tests to check if the cancer is growing. When the cancer begins to grow, treatment is given to cure the cancer. Tests include the following: - Digital rectal exam. - MRI. - Endoscopy. - Sigmoidoscopy. - CT scan. - Carcinoembryonic antigen (CEA) assay. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Types of targeted therapies used in the treatment of rectal cancer include the following: - Monoclonal antibodies: Monoclonal antibody therapy is a type of targeted therapy being used for the treatment of rectal cancer. Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. - Bevacizumab and ramucirumab are types of monoclonal antibodies that bind to a protein called vascular endothelial growth factor (VEGF). This may prevent the growth of new blood vessels that tumors need to grow. - Cetuximab and panitumumab are types of monoclonal antibodies that bind to a protein called epidermal growth factor receptor (EGFR) on the surface of some types of cancer cells. This may stop cancer cells from growing and dividing. - Angiogenesis inhibitors: Angiogenesis inhibitors stop the growth of new blood vessels that tumors need to grow. - Ziv-aflibercept is a vascular endothelial growth factor trap that blocks an enzyme needed for the growth of new blood vessels in tumors. - Regorafenib is used to treat colorectal cancer that has spread to other parts of the body and has not gotten better with other treatment. It blocks the action of certain proteins, including vascular endothelial growth factor. This may help keep cancer cells from growing and may kill them. It may also prevent the growth of new blood vessels that tumors need to grow. See Drugs Approved for Rectal Cancer for more information. + + + Other types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. After treatment for rectal cancer, a blood test to measure amounts of carcinoembryonic antigen (a substance in the blood that may be increased when cancer is present) may be done to see if the cancer has come back. + + + Treatment Options by Stage + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 may include the following: - Simple polypectomy. - Local excision. - Resection (when the tumor is too large to remove by local excision). Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 rectal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Rectal Cancer + Treatment of stage I rectal cancer may include the following: - Local excision. - Resection. - Resection with radiation therapy and chemotherapy after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I rectal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stages II and III Rectal Cancer + Treatment of stage II and stage III rectal cancer may include the following: - Surgery. - Chemotherapy combined with radiation therapy, followed by surgery. - Short-course radiation therapy followed by surgery and chemotherapy. - Resection followed by chemotherapy combined with radiation therapy. - Chemotherapy combined with radiation therapy, followed by active surveillance. Surgery may be done if the cancer recurs (comes back). - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II rectal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV and Recurrent Rectal Cancer + Treatment of stage IV and recurrent rectal cancer may include the following: - Surgery with or without chemotherapy or radiation therapy. - Systemic chemotherapy with or without targeted therapy (a monoclonal antibody or angiogenesis inhibitor). - Chemotherapy to control the growth of the tumor. - Radiation therapy, chemotherapy, or a combination of both, as palliative therapy to relieve symptoms and improve the quality of life. - Placement of a stent to help keep the rectum open if it is partly blocked by the tumor, as palliative therapy to relieve symptoms and improve the quality of life. - A clinical trial of a new anticancer drug. Treatment of rectal cancer that has spread to other organs depends on where the cancer has spread. - Treatment for areas of cancer that have spread to the liver includes the following: - Surgery to remove the tumor. Chemotherapy may be given before surgery, to shrink the tumor. - Cryosurgery or radiofrequency ablation. - Chemoembolization and/or systemic chemotherapy. - A clinical trial of chemoembolization combined with radiation therapy to the tumors in the liver. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV rectal cancer and recurrent rectal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Rectal Cancer +what research (or clinical trials) is being done for Rectal Cancer ?,"Other types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Rectal Cancer +What is (are) Myelodysplastic Syndromes ?,"Key Points + - Myelodysplastic syndromes are a group of cancers in which immature blood cells in the bone marrow do not mature or become healthy blood cells. - The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow. - Age and past treatment with chemotherapy or radiation therapy affect the risk of a myelodysplastic syndrome. - Signs and symptoms of a myelodysplastic syndrome include shortness of breath and feeling tired. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic syndromes. - Certain factors affect prognosis and treatment options. + + + Myelodysplastic syndromes are a group of cancers in which immature blood cells in the bone marrow do not mature or become healthy blood cells. + In a healthy person, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a lymphoid stem cell or a myeloid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - White blood cells that fight infection and disease. In a patient with a myelodysplastic syndrome, the blood stem cells (immature cells) do not become mature red blood cells, white blood cells, or platelets in the bone marrow. These immature blood cells, called blasts, do not work the way they should and either die in the bone marrow or soon after they go into the blood. This leaves less room for healthy white blood cells, red blood cells, and platelets to form in the bone marrow. When there are fewer healthy blood cells, infection, anemia, or easy bleeding may occur. + + + The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow. + - Refractory anemia: There are too few red blood cells in the blood and the patient has anemia. The number of white blood cells and platelets is normal. - Refractory anemia with ring sideroblasts: There are too few red blood cells in the blood and the patient has anemia. The red blood cells have too much iron inside the cell. The number of white blood cells and platelets is normal. - Refractory anemia with excess blasts: There are too few red blood cells in the blood and the patient has anemia. Five percent to 19% of the cells in the bone marrow are blasts. There also may be changes to the white blood cells and platelets. Refractory anemia with excess blasts may progress to acute myeloid leukemia (AML). See the PDQ Adult Acute Myeloid Leukemia Treatment summary for more information. - Refractory cytopenia with multilineage dysplasia: There are too few of at least two types of blood cells (red blood cells, platelets, or white blood cells). Less than 5% of the cells in the bone marrow are blasts and less than 1% of the cells in the blood are blasts. If red blood cells are affected, they may have extra iron. Refractory cytopenia may progress to acute myeloid leukemia (AML). - Refractory cytopenia with unilineage dysplasia: There are too few of one type of blood cell (red blood cells, platelets, or white blood cells). There are changes in 10% or more of two other types of blood cells. Less than 5% of the cells in the bone marrow are blasts and less than 1% of the cells in the blood are blasts. - Unclassifiable myelodysplastic syndrome: The numbers of blasts in the bone marrow and blood are normal, and the disease is not one of the other myelodysplastic syndromes. - Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality: There are too few red blood cells in the blood and the patient has anemia. Less than 5% of the cells in the bone marrow and blood are blasts. There is a specific change in the chromosome. - Chronic myelomonocytic leukemia (CMML): See the PDQ summary on Myelodysplastic/ Myeloproliferative Neoplasms Treatment for more information.",CancerGov,Myelodysplastic Syndromes +What are the treatments for Myelodysplastic Syndromes ?,"Key Points + - There are different types of treatment for patients with myelodysplastic syndromes. - Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. - Three types of standard treatment are used: - Supportive care - Drug therapy - Chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with myelodysplastic syndromes. + Different types of treatment are available for patients with myelodysplastic syndromes. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. + Patients with a myelodysplastic syndrome who have symptoms caused by low blood counts are given supportive care to relieve symptoms and improve quality of life. Drug therapy may be used to slow progression of the disease. Certain patients can be cured with aggressive treatment with chemotherapy followed by stem cell transplant using stem cells from a donor. + + + Three types of standard treatment are used: + Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include the following: - Transfusion therapy Transfusion therapy (blood transfusion) is a method of giving red blood cells, white blood cells, or platelets to replace blood cells destroyed by disease or treatment. A red blood cell transfusion is given when the red blood cell count is low and signs or symptoms of anemia, such as shortness of breath or feeling very tired, occur. A platelet transfusion is usually given when the patient is bleeding, is having a procedure that may cause bleeding, or when the platelet count is very low. Patients who receive many blood cell transfusions may have tissue and organ damage caused by the buildup of extra iron. These patients may be treated with iron chelation therapy to remove the extra iron from the blood. - Erythropoiesis-stimulating agents Erythropoiesis-stimulating agents (ESAs) may be given to increase the number of mature red blood cells made by the body and to lessen the effects of anemia. Sometimes granulocyte colony-stimulating factor (G-CSF) is given with ESAs to help the treatment work better. - Antibiotic therapy Antibiotics may be given to fight infection. Drug therapy - Lenalidomide Patients with myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality who need frequent red blood cell transfusions may be treated with lenalidomide. Lenalidomide is used to lessen the need for red blood cell transfusions. - Immunosuppressive therapy Antithymocyte globulin (ATG) works to suppress or weaken the immune system. It is used to lessen the need for red blood cell transfusions. - Azacitidine and decitabine Azacitidine and decitabine are used to treat myelodysplastic syndromes by killing cells that are dividing rapidly. They also help genes that are involved in cell growth to work the way they should. Treatment with azacitidine and decitabine may slow the progression of myelodysplastic syndromes to acute myeloid leukemia. - Chemotherapy used in acute myeloid leukemia (AML) Patients with a myelodysplastic syndrome and a high number of blasts in their bone marrow have a high risk of acute leukemia. They may be treated with the same chemotherapy regimen used in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of a donor and are frozen for storage. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. This treatment may not work as well in patients whose myelodysplastic syndrome was caused by past treatment for cancer. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",CancerGov,Myelodysplastic Syndromes +What is (are) Childhood Astrocytomas ?,"Key Points + - Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. - The cause of most childhood brain tumors is not known. - The signs and symptoms of astrocytomas are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. - Childhood astrocytomas are usually diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. + Astrocytomas are tumors that start in star-shaped brain cells called astrocytes. An astrocyte is a type of glial cell. Glial cells hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. Gliomas are tumors that form from glial cells. An astrocytoma is a type of glioma. Astrocytoma is the most common type of glioma diagnosed in children. It can form anywhere in the central nervous system (brain and spinal cord). This summary is about the treatment of tumors that begin in astrocytes in the brain (primary brain tumors). Metastatic brain tumors are formed by cancer cells that begin in other parts of the body and spread to the brain. Treatment of metastatic brain tumors is not discussed here. Brain tumors can occur in both children and adults. However, treatment for children may be different than treatment for adults. See the following PDQ summaries for more information about other types of brain tumors in children and adults: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment + + + Astrocytomas may be benign (not cancer) or malignant (cancer). + Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs and symptoms and almost all need treatment. + + + The central nervous system controls many important body functions. + Astrocytomas are most common in these parts of the central nervous system (CNS): - Cerebrum : The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement. - Cerebellum : The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture. - Brain stem : The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. - Hypothalamus : The area in the middle of the base of the brain. It controls body temperature, hunger, and thirst. - Visual pathway: The group of nerves that connect the eye with the brain. - Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.",CancerGov,Childhood Astrocytomas +What causes Childhood Astrocytomas ?,The cause of most childhood brain tumors is not known.,CancerGov,Childhood Astrocytomas +Who is at risk for Childhood Astrocytomas? ?,"Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Possible risk factors for astrocytoma include: - Past radiation therapy to the brain. - Having certain genetic disorders, such as neurofibromatosis type 1 (NF1) or tuberous sclerosis.",CancerGov,Childhood Astrocytomas +What are the symptoms of Childhood Astrocytomas ?,"The signs and symptoms of astrocytomas are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. - The child's age and development. Some tumors do not cause signs or symptoms. Signs and symptoms may be caused by childhood astrocytomas or by other conditions. Check with your child's doctor if your child has any of the following: - Morning headache or headache that goes away after vomiting. - Nausea and vomiting. - Vision, hearing, and speech problems. - Loss of balance and trouble walking. - Worsening handwriting or slow speech. - Weakness or change in feeling on one side of the body. - Unusual sleepiness. - More or less energy than usual. - Change in personality or behavior. - Seizures. - Weight loss or weight gain for no known reason. - Increase in the size of the head (in infants).",CancerGov,Childhood Astrocytomas +How to diagnose Childhood Astrocytomas ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the same MRI scan to look at the chemical makeup of the brain tissue. + Childhood astrocytomas are usually diagnosed and removed in surgery. If doctors think there may be an astrocytoma, a biopsy may be done to remove a sample of tissue. For tumors in the brain, a part of the skull is removed and a needle is used to remove tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. Because it can be hard to tell the difference between types of brain tumors, you may want to have your child's tissue sample checked by a pathologist who has experience in diagnosing brain tumors. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. An MIB-1 test is a type of immunohistochemistry that checks tumor tissue for an antigen called MIB-1. This may show how fast a tumor is growing. Sometimes tumors form in a place that makes them hard to remove. If removing the tumor may cause severe physical, emotional, or learning problems, a biopsy is done and more treatment is given after the biopsy. Children who have NF1 may form a low-grade astrocytoma in the area of the brain that controls vision and may not need a biopsy. If the tumor does not continue to grow or symptoms do not occur, surgery to remove the tumor may not be needed.",CancerGov,Childhood Astrocytomas +What is the outlook for Childhood Astrocytomas ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is a low-grade or high-grade astrocytoma. - Where the tumor has formed in the CNS and if it has spread to nearby tissue or to other parts of the body. - How fast the tumor is growing. - The child's age. - Whether cancer cells remain after surgery. - Whether there are changes in certain genes. - Whether the child has NF1 or tuberous sclerosis. - Whether the child has diencephalic syndrome (a condition which slows physical growth). - Whether the child has intracranial hypertension (cerebrospinal fluid pressure within the skull is high) at the time of diagnosis. - Whether the astrocytoma has just been diagnosed or has recurred (come back). For recurrent astrocytoma, prognosis and treatment depend on how much time passed between the time treatment ended and the time the astrocytoma recurred.",CancerGov,Childhood Astrocytomas +What are the stages of Childhood Astrocytomas ?,"Key Points + - The grade of the tumor is used to plan cancer treatment. - Low-grade astrocytomas - High-grade astrocytomas - An MRI is done after surgery. + + + The grade of the tumor is used to plan cancer treatment. + Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment. There is no standard staging system for childhood astrocytoma. Treatment is based on the following: - Whether the tumor is low grade or high grade. - Whether the tumor is newly diagnosed or recurrent (has come back after treatment). The grade of the tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. The following grades are used: Low-grade astrocytomas Low-grade astrocytomas are slow-growing and rarely spread to other parts of the brain and spinal cord or other parts of the body. There are many types of low-grade astrocytomas. Low-grade astrocytomas can be either: - Grade I tumors pilocytic astrocytoma, subependymal giant cell tumor, or angiocentric glioma. - Grade II tumors diffuse astrocytoma, pleomorphic xanthoastrocytoma, or choroid glioma of the third ventricle. Children who have neurofibromatosis type 1 may have more than one low-grade tumor in the brain. Children who have tuberous sclerosis have an increased risk of subependymal giant cell astrocytoma. High-grade astrocytomas High-grade astrocytomas are fast-growing and often spread within the brain and spinal cord. There are several types of high-grade astrocytomas. High grade astrocytomas can be either: - Grade III tumors anaplastic astrocytoma or anaplastic pleomorphic xanthoastrocytoma. - Grade IV tumors glioblastoma or diffuse midline glioma. Childhood astrocytomas usually do not spread to other parts of the body. + + + An MRI is done after surgery. + An MRI (magnetic resonance imaging) is done in the first few days after surgery. This is to find out how much tumor, if any, remains after surgery and to plan further treatment.",CancerGov,Childhood Astrocytomas +what research (or clinical trials) is being done for Childhood Astrocytomas ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Astrocytomas +What are the treatments for Childhood Astrocytomas ?,"Key Points + - There are different types of treatment for patients with childhood astrocytoma. - Children with astrocytomas should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of treatment are used: - Surgery - Observation - Radiation therapy - Chemotherapy - High-dose chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. - Other drug therapy - If fluid builds up around the brain and spinal cord, a cerebrospinal fluid diversion procedure may be done. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with childhood astrocytoma. + Different types of treatment are available for children with astrocytomas. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with astrocytomas should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric neurosurgeon. - Neurologist. - Neuropathologist. - Neuroradiologist. - Rehabilitation specialist. - Radiation oncologist. - Endocrinologist. - Psychologist. + + + Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Signs or symptoms caused by the tumor may begin before diagnosis. These signs or symptoms may continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) + + + Six types of treatment are used: + Surgery Surgery is used to diagnose and treat childhood astrocytoma, as discussed in the General Information section of this summary. If cancer cells remain after surgery, further treatment depends on: - Where the remaining cancer cells are. - The grade of the tumor. - The age of the child. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that remain. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Observation may be used: - If the patient has no symptoms, such as patients with neurofibromatosis type1. - If the tumor is small and is found when a different health problem is being diagnosed or treated. - After the tumor is removed by surgery until signs or symptoms appear or change. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) external radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Stereotactic radiation therapy: Stereotactic radiation therapy is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims radiation directly at the tumor. The total dose of radiation is divided into several smaller doses given over several days. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Proton beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of tumor and where the tumor formed in the brain or spinal cord. External radiation therapy is used to treat childhood astrocytomas. Radiation therapy to the brain can affect growth and development, especially in young children. For children younger than 3 years, chemotherapy may be given instead, to delay or reduce the need for radiation therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of tumor and where the tumor formed in the brain or spinal cord. Systemic combination chemotherapy is used in the treatment of children with astrocytoma. High-dose chemotherapy may be used in the treatment of children with newly diagnosed high-grade astrocytoma. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. For high-grade astrocytoma that has come back after treatment, high-dose chemotherapy with stem cell transplant is used if there is only a small amount of tumor. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. There are different types of targeted therapy: - Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell, to stop cancer cells. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion into a vein. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. There are different types of monoclonal antibody therapy: - Vascular endothelial growth factor (VEGF) inhibitor therapy: Cancer cells make a substance called VEGF, which causes new blood vessels to form (angiogenesis) and helps the cancer grow. VEGF inhibitors block VEGF and stop new blood vessels from forming. This may kill cancer cells because they need new blood vessels to grow. Bevacizumab is a VEGF inhibitor and angiogenesis inhibitor being used to treat childhood astrocytoma. - Immune checkpoint inhibitor therapy: PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. PD-1 inhibitors are being studied to treat high-grade astrocytoma that has recurred. - Protein kinase inhibitors work in different ways. There are several kinds of protein kinase inhibitors. - mTOR inhibitors stop cells from dividing and may prevent the growth of new blood vessels that tumors need to grow. Everolimus and sirolimus are mTOR inhibitors used to treat childhood subependymal giant cell astrocytomas. mTOR inhibitors also are being studied to treat low-grade astrocytoma that has recurred. - BRAF inhibitors block proteins needed for cell growth and may kill cancer cells. The BRAF inhibitor dabrafenib is being studied to treat low-grade astrocytoma that has recurred. Vemurafenib and dabrafenib have been used to treat high-grade astrocytomas that have recurred but more study is needed to know how well they work in children. - MEK inhibitors block proteins needed for cell growth and may kill cancer cells. MEK inhibitors such as selumetinib are being studied to treat low-grade astrocytoma that has recurred. See Drugs Approved for Brain Tumors for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow. + + + If fluid builds up around the brain and spinal cord, a cerebrospinal fluid diversion procedure may be done. + Cerebrospinal fluid diversion is a method used to drain fluid that has built up around the brain and spinal cord. A shunt (long, thin tube) is placed in a ventricle (fluid-filled space) of the brain and threaded under the skin to another part of the body, usually the abdomen. The shunt carries extra fluid away from the brain so it may be absorbed elsewhere in the body. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. (See the General Information section for a list of tests.) Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Regular MRIs will continue to be done after treatment has ended. The results of the MRI can show if your child's condition has changed or if the astrocytoma has recurred (come back). If the results of the MRI show a mass in the brain, a biopsy may be done to find out if it is made up of dead tumor cells or if new cancer cells are growing. + + + Treatment Options for Childhood Astrocytomas + + + Newly Diagnosed Childhood Low-Grade Astrocytomas + When the tumor is first diagnosed, treatment for childhood low-grade astrocytoma depends on where the tumor is, and is usually surgery. An MRI is done after surgery to see if there is tumor remaining. If the tumor was completely removed by surgery, more treatment may not be needed and the child is closely watched to see if signs or symptoms appear or change. This is called observation. If there is tumor remaining after surgery, treatment may include the following: - Observation. - A second surgery to remove the tumor. - Radiation therapy, which may include conformal radiation therapy, intensity-modulated radiation therapy, proton beam radiation therapy, or stereotactic radiation therapy, when the tumor begins to grow again. - Combination chemotherapy with or without radiation therapy. In some cases, observation is used for children who have a visual pathway glioma. In other cases, treatment may include surgery to remove the tumor, radiation therapy, or chemotherapy. A goal of treatment is to save as much vision as possible. The effect of tumor growth on the child's vision will be closely followed during treatment. Children with neurofibromatosis type 1 (NF1) may not need treatment unless the tumor grows or signs or symptoms, such as vision problems, appear. When the tumor grows or signs or symptoms appear, treatment may include surgery to remove the tumor, radiation therapy, and/or chemotherapy. Children with tuberous sclerosis may develop benign (not cancer) tumors in the brain called subependymal giant cell astrocytomas (SEGAs). Targeted therapy with everolimus or sirolimus may be used instead of surgery, to shrink the tumors. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood low-grade untreated astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Low-Grade Astrocytomas + When low-grade astrocytoma recurs after treatment, it usually comes back where the tumor first formed. Before more cancer treatment is given, imaging tests, biopsy, or surgery are done to find out if there is cancer and how much there is. Treatment of recurrent childhood low-grade astrocytoma may include the following: - A second surgery to remove the tumor, if surgery was the only treatment given when the tumor was first diagnosed. - Radiation therapy to the tumor only, if radiation therapy was not used when the tumor was first diagnosed. Conformal radiation therapy may be given. - Chemotherapy, if the tumor recurred where it cannot be removed by surgery or the patient had radiation therapy when the tumor was first diagnosed. - Targeted therapy with a monoclonal antibody (bevacizumab) with or without chemotherapy. - A clinical trial of targeted therapy with a BRAF inhibitor (dabrafenib), an mTOR inhibitor (everolimus), or a MEK inhibitor (selumetinib). - A clinical trial of lenalidomide. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood High-Grade Astrocytomas + Treatment of childhood high-grade astrocytoma may include the following: - Surgery to remove the tumor, followed by chemotherapy and/or radiation therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood high-grade untreated astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood High-Grade Astrocytomas + When high-grade astrocytoma recurs after treatment, it usually comes back where the tumor first formed. Before more cancer treatment is given, imaging tests, biopsy, or surgery are done to find out if there is cancer and how much there is. Treatment of recurrent childhood high-grade astrocytoma may include the following: - Surgery to remove the tumor. - High-dose chemotherapy with stem cell transplant. - Targeted therapy with a BRAF inhibitor (vemurafenib or dabrafenib). - A clinical trial of targeted therapy with an immune checkpoint inhibitor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood astrocytoma or other tumor of glial origin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Astrocytomas +What is (are) Metastatic Squamous Neck Cancer with Occult Primary ?,"Key Points + - Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body. - Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. - Tests that examine the tissues of the neck, respiratory tract, and upper part of the digestive tract are used to detect (find) and diagnose metastatic squamous neck cancer and the primary tumor. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body. + Squamous cells are thin, flat cells found in tissues that form the surface of the skin and the lining of body cavities such as the mouth, hollow organs such as the uterus and blood vessels, and the lining of the respiratory (breathing) and digestive tracts. Some organs with squamous cells are the esophagus, lungs, kidneys, and uterus. Cancer can begin in squamous cells anywhere in the body and metastasize (spread) through the blood or lymph system to other parts of the body. When squamous cell cancer spreads to lymph nodes in the neck or around the collarbone, it is called metastatic squamous neck cancer. The doctor will try to find the primary tumor (the cancer that first formed in the body), because treatment for metastatic cancer is the same as treatment for the primary tumor. For example, when lung cancer spreads to the neck, the cancer cells in the neck are lung cancer cells and they are treated the same as the cancer in the lung. Sometimes doctors cannot find where in the body the cancer first began to grow. When tests cannot find a primary tumor, it is called an occult (hidden) primary tumor. In many cases, the primary tumor is never found.",CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +What are the symptoms of Metastatic Squamous Neck Cancer with Occult Primary ?,Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. Check with your doctor if you have a lump or pain in your neck or throat that doesn't go away. These and other signs and symptoms may be caused by metastatic squamous neck cancer with occult primary. Other conditions may cause the same signs and symptoms.,CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +How to diagnose Metastatic Squamous Neck Cancer with Occult Primary ?,"Tests that examine the tissues of the neck, respiratory tract, and upper part of the digestive tract are used to detect (find) and diagnose metastatic squamous neck cancer and the primary tumor. Tests will include checking for a primary tumor in the organs and tissues of the respiratory tract (part of the trachea), the upper part of the digestive tract (including the lips, mouth, tongue, nose, throat, vocal cords, and part of the esophagus), and the genitourinary system. The following procedures may be used: - Physical exam and history : An exam of the body, especially the head and neck, to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist or tested in the laboratory to check for signs of cancer. Three types of biopsy may be done: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Core needle biopsy : The removal of tissue using a wide needle. - Excisional biopsy : The removal of an entire lump of tissue. The following procedures are used to remove samples of cells or tissue: - Tonsillectomy: Surgery to remove both tonsils. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth or nose. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. The nose, throat, back of the tongue, esophagus, stomach, voice box, windpipe, and large airways will be checked. One or more of the following laboratory tests may be done to study the tissue samples: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of blood or bone marrow. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Light and electron microscopy : A test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Epstein-Barr virus (EBV) and human papillomavirus (HPV) test: A test that checks the cells in a sample of tissue for EBV and HPV DNA. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A whole body PET scan and a CT scan are done at the same time to look for where the cancer first formed. If there is any cancer, this increases the chance that it will be found. A diagnosis of occult primary tumor is made if the primary tumor is not found during testing or treatment.",CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +What is the outlook for Metastatic Squamous Neck Cancer with Occult Primary ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The number and size of lymph nodes that have cancer in them. - Whether the cancer has responded to treatment or has recurred (come back). - How different from normal the cancer cells look under a microscope. - The patient's age and general health. Treatment options also depend on the following: - Which part of the neck the cancer is in. - Whether certain tumor markers are found.,CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +What are the stages of Metastatic Squamous Neck Cancer with Occult Primary ?,"Key Points + - After metastatic squamous neck cancer with occult primary has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. + + + After metastatic squamous neck cancer with occult primary has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread to other parts of the body is called staging. The results from tests and procedures used to detect and diagnose the primary tumor are also used to find out if cancer has spread to other parts of the body. There is no standard staging system for metastatic squamous neck cancer with occult primary. The tumors are described as untreated or recurrent. Untreated metastatic squamous neck cancer with occult primary is cancer that is newly diagnosed and has not been treated, except to relieve signs and symptoms caused by the cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.",CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +What are the treatments for Metastatic Squamous Neck Cancer with Occult Primary ?,"Key Points + - There are different types of treatment for patients with metastatic squamous neck cancer with occult primary. - Two types of standard treatment are used: - Surgery - Radiation therapy - New types of treatment are being tested in clinical trials. - Chemotherapy - Hyperfractionated radiation therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with metastatic squamous neck cancer with occult primary. + Different types of treatment are available for patients with metastatic squamous neck cancer with occult primary. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Two types of standard treatment are used: + Surgery Surgery may include neck dissection. There are different types of neck dissection, based on the amount of tissue that is removed. - Radical neck dissection: Surgery to remove tissues in one or both sides of the neck between the jawbone and the collarbone, including the following: - All lymph nodes. - The jugular vein. - Muscles and nerves that are used for face, neck, and shoulder movement, speech, and swallowing. The patient may need physical therapy of the throat, neck, shoulder, and/or arm after radical neck dissection. Radical neck dissection may be used when cancer has spread widely in the neck. - Modified radical neck dissection: Surgery to remove all the lymph nodes in one or both sides of the neck without removing the neck muscles. The nerves and/or the jugular vein may be removed. - Partial neck dissection: Surgery to remove some of the lymph nodes in the neck. This is also called selective neck dissection. Even if the doctor removes all the cancer that can be seen at the time of surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. This type of radiation therapy is less likely to cause dry mouth, trouble swallowing, and damage to the skin. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat metastatic squamous neck cancer with occult primary. Radiation therapy to the neck may change the way the thyroid gland works. Blood tests may be done to check the thyroid hormone level in the body before treatment and at regular checkups after treatment. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Hyperfractionated radiation therapy Hyperfractionated radiation therapy is a type of external radiation treatment in which a smaller than usual total daily dose of radiation is divided into two doses and the treatments are given twice a day. Hyperfractionated radiation therapy is given over the same period of time (days or weeks) as standard radiation therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Metastatic Squamous Neck Cancer with Occult Primary + + + Untreated Metastatic Squamous Neck Cancer with Occult Primary + Treatment of untreated metastatic squamous neck cancer with occult primary may include the following: - Radiation therapy. - Surgery. - Radiation therapy followed by surgery. - A clinical trial of chemotherapy followed by radiation therapy. - A clinical trial of chemotherapy given at the same time as hyperfractionated radiation therapy. - Clinical trials of new treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated metastatic squamous neck cancer with occult primary. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Metastatic Squamous Neck Cancer with Occult Primary + Treatment of recurrent metastatic squamous neck cancer with occult primary is usually within a clinical trial. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent metastatic squamous neck cancer with occult primary. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +what research (or clinical trials) is being done for Metastatic Squamous Neck Cancer with Occult Primary ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Hyperfractionated radiation therapy Hyperfractionated radiation therapy is a type of external radiation treatment in which a smaller than usual total daily dose of radiation is divided into two doses and the treatments are given twice a day. Hyperfractionated radiation therapy is given over the same period of time (days or weeks) as standard radiation therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Metastatic Squamous Neck Cancer with Occult Primary +What is (are) Small Intestine Cancer ?,"Key Points + - Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine. - There are five types of small intestine cancer. - Diet and health history can affect the risk of developing small intestine cancer. - Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. - Tests that examine the small intestine are used to detect (find), diagnose, and stage small intestine cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine. + The small intestine is part of the bodys digestive system, which also includes the esophagus, stomach, and large intestine. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The small intestine is a long tube that connects the stomach to the large intestine. It folds many times to fit inside the abdomen. + + + There are five types of small intestine cancer. + The types of cancer found in the small intestine are adenocarcinoma, sarcoma, carcinoid tumors, gastrointestinal stromal tumor, and lymphoma. This summary discusses adenocarcinoma and leiomyosarcoma (a type of sarcoma). Adenocarcinoma starts in glandular cells in the lining of the small intestine and is the most common type of small intestine cancer. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine. Leiomyosarcoma starts in the smooth muscle cells of the small intestine. Most of these tumors occur in the part of the small intestine near the large intestine. See the following PDQ summaries for more information on small intestine cancer: - Adult Soft Tissue Sarcoma Treatment - Childhood Soft Tissue Sarcoma Treatment - Adult Non-Hodgkin Lymphoma Treatment - Childhood Non-Hodgkin Lymphoma Treatment - Gastrointestinal Carcinoid Tumors Treatment - Gastrointestinal Stromal Tumors Treatment",CancerGov,Small Intestine Cancer +Who is at risk for Small Intestine Cancer? ?,Diet and health history can affect the risk of developing small intestine cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for small intestine cancer include the following: - Eating a high-fat diet. - Having Crohn disease. - Having celiac disease. - Having familial adenomatous polyposis (FAP).,CancerGov,Small Intestine Cancer +What are the symptoms of Small Intestine Cancer ?,Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. These and other signs and symptoms may be caused by small intestine cancer or by other conditions. Check with your doctor if you have any of the following: - Pain or cramps in the middle of the abdomen. - Weight loss with no known reason. - A lump in the abdomen. - Blood in the stool.,CancerGov,Small Intestine Cancer +How to diagnose Small Intestine Cancer ?,"Tests that examine the small intestine are used to detect (find), diagnose, and stage small intestine cancer.Procedures that make pictures of the small intestine and the area around it help diagnose small intestine cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the small intestine is called staging. In order to plan treatment, it is important to know the type of small intestine cancer and whether the tumor can be removed by surgery. Tests and procedures to detect, diagnose, and stage small intestine cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver disease that may be caused by small intestine cancer. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. There are different types of endoscopy: - Upper endoscopy : A procedure to look at the inside of the esophagus, stomach, and duodenum (first part of the small intestine, near the stomach). An endoscope is inserted through the mouth and into the esophagus, stomach, and duodenum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Capsule endoscopy : A procedure to look at the inside of the small intestine. A capsule that is about the size of a large pill and contains a light and a tiny wireless camera is swallowed by the patient. The capsule travels through the digestive tract, including the small intestine, and sends many pictures of the inside of the digestive tract to a recorder that is worn around the waist or over the shoulder. The pictures are sent from the recorder to a computer and viewed by the doctor who checks for signs of cancer. The capsule passes out of the body during a bowel movement. - Double balloon endoscopy : A procedure to look at the inside of the small intestine. A special instrument made up of two tubes (one inside the other) is inserted through the mouth or rectum and into the small intestine. The inside tube (an endoscope with a light and lens for viewing) is moved through part of the small intestine and a balloon at the end of it is inflated to keep the endoscope in place. Next, the outer tube is moved through the small intestine to reach the end of the endoscope, and a balloon at the end of the outer tube is inflated to keep it in place. Then, the balloon at the end of the endoscope is deflated and the endoscope is moved through the next part of the small intestine. These steps are repeated many times as the tubes move through the small intestine. The doctor is able to see the inside of the small intestine through the endoscope and use a tool to remove samples of abnormal tissue. The tissue samples are checked under a microscope for signs of cancer. This procedure may be done if the results of a capsule endoscopy are abnormal. This procedure is also called double balloon enteroscopy. - Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. The size of the incision depends on the reason the laparotomy is being done. Sometimes organs or lymph nodes are removed or tissue samples are taken and checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. This may be done during an endoscopy or laparotomy. The sample is checked by a pathologist to see if it contains cancer cells. - Upper GI series with small bowel follow-through: A series of x-rays of the esophagus, stomach, and small bowel. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus, stomach, and small bowel. X-rays are taken at different times as the barium travels through the upper GI tract and small bowel. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).",CancerGov,Small Intestine Cancer +What is the outlook for Small Intestine Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The type of small intestine cancer. - Whether the cancer is in the inner lining of the small intestine only or has spread into or beyond the wall of the small intestine. - Whether the cancer has spread to other places in the body, such as the lymph nodes, liver, or peritoneum (tissue that lines the wall of the abdomen and covers most of the organs in the abdomen). - Whether the cancer can be completely removed by surgery. - Whether the cancer is newly diagnosed or has recurred.",CancerGov,Small Intestine Cancer +What are the stages of Small Intestine Cancer ?,"Key Points + - Tests and procedures to stage small intestine cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Small intestine cancer is grouped according to whether or not the tumor can be completely removed by surgery. + + + Tests and procedures to stage small intestine cancer are usually done at the same time as diagnosis. + Staging is used to find out how far the cancer has spread, but treatment decisions are not based on stage. See the General Information section for a description of tests and procedures used to detect, diagnose, and stage small intestine cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if small intestine cancer spreads to the liver, the cancer cells in the liver are actually small intestine cancer cells. The disease is metastatic small intestine cancer, not liver cancer. + + + Small intestine cancer is grouped according to whether or not the tumor can be completely removed by surgery. + Treatment depends on whether the tumor can be removed by surgery and if the cancer is being treated as a primary tumor or is metastatic cancer.",CancerGov,Small Intestine Cancer +What are the treatments for Small Intestine Cancer ?,"Key Points + - There are different types of treatment for patients with small intestine cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Biologic therapy - Radiation therapy with radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with small intestine cancer. + Different types of treatments are available for patients with small intestine cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery Surgery is the most common treatment of small intestine cancer. One of the following types of surgery may be done: - Resection: Surgery to remove part or all of an organ that contains cancer. The resection may include the small intestine and nearby organs (if the cancer has spread). The doctor may remove the section of the small intestine that contains cancer and perform an anastomosis (joining the cut ends of the intestine together). The doctor will usually remove lymph nodes near the small intestine and examine them under a microscope to see whether they contain cancer. - Bypass: Surgery to allow food in the small intestine to go around (bypass) a tumor that is blocking the intestine but cannot be removed. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. External radiation therapy is used to treat small intestine cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Radiation therapy with radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Small Intestine Cancer + + + Small Intestine Adenocarcinoma + When possible, treatment of small intestine adenocarcinoma will be surgery to remove the tumor and some of the normal tissue around it. Treatment of small intestine adenocarcinoma that cannot be removed by surgery may include the following: - Surgery to bypass the tumor. - Radiation therapy as palliative therapy to relieve symptoms and improve the patient's quality of life. - A clinical trial of radiation therapy with radiosensitizers, with or without chemotherapy. - A clinical trial of new anticancer drugs. - A clinical trial of biologic therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with small intestine adenocarcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Small Intestine Leiomyosarcoma + When possible, treatment of small intestine leiomyosarcoma will be surgery to remove the tumor and some of the normal tissue around it. Treatment of small intestine leiomyosarcoma that cannot be removed by surgery may include the following: - Surgery (to bypass the tumor) and radiation therapy. - Surgery, radiation therapy, or chemotherapy as palliative therapy to relieve symptoms and improve the patient's quality of life. - A clinical trial of new anticancer drugs. - A clinical trial of biologic therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with small intestine leiomyosarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Small Intestine Cancer + Treatment of recurrent small intestine cancer that has spread to other parts of the body is usually a clinical trial of new anticancer drugs or biologic therapy. Treatment of locally recurrent small intestine cancer may include the following: - Surgery. - Radiation therapy or chemotherapy as palliative therapy to relieve symptoms and improve the patient's quality of life. - A clinical trial of radiation therapy with radiosensitizers, with or without chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent small intestine cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Small Intestine Cancer +What is (are) Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Key Points + - Childhood acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. - Leukemia and other diseases of the blood and bone marrow may affect red blood cells, white blood cells, and platelets. - Other myeloid diseases can affect the blood and bone marrow. - Chronic myelogenous leukemia - Juvenile myelomonocytic leukemia - Myelodysplastic syndromes - AML or MDS may occur after treatment with certain anticancer drugs and/or radiation therapy. - The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. - Signs and symptoms of childhood AML, childhood CML, JMML, or MDS include fever, feeling tired, and easy bleeding or bruising. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood AML, childhood CML, JMML, and MDS. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. + Childhood acute myeloid leukemia (AML) is a cancer of the blood and bone marrow. AML is also called acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, and acute nonlymphocytic leukemia. Cancers that are acute usually get worse quickly if they are not treated. Cancers that are chronic usually get worse slowly. + + + Leukemia and other diseases of the blood and bone marrow may affect red blood cells, white blood cells, and platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In AML, the myeloid stem cells usually become a type of immature white blood cell called myeloblasts (or myeloid blasts). The myeloblasts, or leukemia cells, in AML are abnormal and do not become healthy white blood cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. The leukemia cells can spread outside the blood to other parts of the body, including the central nervous system (brain and spinal cord), skin, and gums. Sometimes leukemia cells form a solid tumor called a granulocytic sarcoma or chloroma. There are subtypes of AML based on the type of blood cell that is affected. The treatment of AML is different when it is a subtype called acute promyelocytic leukemia (APL) or when the child has Down syndrome. + + + Other myeloid diseases can affect the blood and bone marrow. + Chronic myelogenous leukemia In chronic myelogenous leukemia (CML), too many bone marrow stem cells become a type of white blood cell called granulocytes. Some of these bone marrow stem cells never become mature white blood cells. These are called blasts. Over time, the granulocytes and blasts crowd out the red blood cells and platelets in the bone marrow. CML is rare in children. Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer that occurs more often in children around the age of 2 years and is more common in boys. In JMML, too many bone marrow stem cells become 2 types of white blood cells called myelocytes and monocytes. Some of these bone marrow stem cells never become mature white blood cells. These immature cells, called blasts, are unable to do their usual work. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur. Myelodysplastic syndromes Myelodysplastic syndromes (MDS) occur less often in children than in adults. In MDS, the bone marrow makes too few red blood cells, white blood cells, and platelets. These blood cells may not mature and enter the blood. The treatment for MDS depends on how low the numbers of red blood cells, white blood cells, or platelets are. Over time, MDS may become AML. Transient myeloproliferative disorder (TMD) is a type of MDS. This disorder of the bone marrow can develop in newborns who have Down syndrome. It usually goes away on its own within the first 3 weeks of life. Infants who have Down syndrome and TMD have an increased chance of developing AML before the age of 3 years. This summary is about childhood AML, childhood CML, JMML, and MDS. See the following PDQ summaries for more information about other types of leukemia and diseases of the blood and bone marrow in children and adults: - Childhood Acute Lymphoblastic Leukemia Treatment - Adult Acute Myeloid Leukemia Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Chronic Myelogenous Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment - Myelodysplastic Syndromes Treatment - Myelodysplastic/Myeloproliferative Neoplasms Treatment + + + AML or MDS may occur after treatment with certain anticancer drugs and/or radiation therapy. + Cancer treatment with certain anticancer drugs and/or radiation therapy may cause therapy -related AML (t-AML) or therapy-related MDS (t-MDS). The risk of these therapy-related myeloid diseases depends on the total dose of the anticancer drugs used and the radiation dose and treatment field. Some patients also have an inherited risk for t-AML and t-MDS. These therapy-related diseases usually occur within 7 years after treatment, but are rare in children.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +Who is at risk for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies? ?,"The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. These and other factors may increase the risk of childhood AML, childhood CML, JMML, and MDS: - Having a brother or sister, especially a twin, with leukemia. - Being Hispanic. - Being exposed to cigarette smoke or alcohol before birth. - Having a personal history of aplastic anemia. - Having a personal or family history of MDS. - Having a family history of AML. - Past treatment with chemotherapy or radiation therapy. - Being exposed to ionizing radiation or chemicals such as benzene. - Having certain genetic disorders, such as: - Down syndrome. - Fanconi anemia. - Neurofibromatosis type 1. - Noonan syndrome. - Shwachman-Diamond syndrome.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +What are the symptoms of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Signs and symptoms of childhood AML, childhood CML, JMML, or MDS include fever, feeling tired, and easy bleeding or bruising. These and other signs and symptoms may be caused by childhood AML, childhood CML, JMML, or MDS or by other conditions. Check with a doctor if your child has any of the following: - Fever with or without an infection. - Night sweats. - Shortness of breath. - Weakness or feeling tired. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain in the bones or joints. - Pain or feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, groin, or other parts of the body. In childhood AML, these lumps, called leukemia cutis, may be blue or purple. - Painless lumps that are sometimes around the eyes. These lumps, called chloromas, are sometimes seen in childhood AML and may be blue-green. - An eczema -like skin rash. The signs and symptoms of TMD may include the following: - Swelling all over the body. - Shortness of breath. - Trouble breathing. - Weakness or feeling tired. - Pain below the ribs.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +How to diagnose Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood AML, childhood CML, JMML, and MDS. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential: A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, number of platelets, and changes in the shape of the blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Biopsies that may be done include the following: - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. - Tumor biopsy: A biopsy of a chloroma may be done. - Lymph node biopsy: The removal of all or part of a lymph node. - Cytogenetic analysis : A laboratory test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Changes in the chromosomes may include when part of one chromosome is switched with part of another chromosome, part of one chromosome is missing or repeated, or part of one chromosome is turned upside down. The following test is a type of cytogenetic analysis: - FISH (fluorescence in situ hybridization): A laboratory technique used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA bind to specific genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell, that may include special staining of the blood and bone marrow cells. This process is used to diagnose the subtype of AML by comparing the cancer cells to normal cells of the immune system. - Molecular testing : A laboratory test to check for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. A molecular test may be used to help plan treatment, find out how well treatment is working, or make a prognosis. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +What is the outlook for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for childhood AML depend on the following: - The age of the child when the cancer is diagnosed. - The race or ethnic group of the child. - Whether the child is greatly overweight. - Number of white blood cells in the blood at diagnosis. - Whether the AML occurred after previous cancer treatment. - The subtype of AML. - Whether there are certain chromosome or gene changes in the leukemia cells. - Whether the child has Down syndrome. Most children with AML and Down syndrome can be cured of their leukemia. - Whether the leukemia is in the central nervous system (brain and spinal cord). - How quickly the leukemia responds to treatment. - Whether the AML is newly diagnosed (untreated) or has recurred (come back) after being treated. - The length of time since treatment ended, for AML that has recurred. The prognosis and treatment options for childhood CML depend on how long it has been since the patient was diagnosed and how many blast cells are in the blood. The prognosis (chance of recovery) and treatment options for JMML depend on the following: - The age of the child when the cancer is diagnosed. - The type of gene affected and the number of genes that have changes. - How many red blood cells, white blood cells, or platelets are in the blood. - Whether the JMML is newly diagnosed (untreated) or has recurred after treatment. The prognosis (chance of recovery) and treatment options for MDS depend on the following: - Whether the MDS was caused by previous cancer treatment. - How low the numbers of red blood cells, white blood cells, or platelets are. - Whether the MDS is newly diagnosed (untreated) or has recurred after treatment.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +What are the stages of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Key Points + - Once childhood acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. - There is no standard staging system for childhood AML, childhood chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). + + + Once childhood acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. + The following tests and procedures may be used to determine if the leukemia has spread: - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - Biopsy of the testicles, ovaries, or skin: The removal of cells or tissues from the testicles, ovaries, or skin so they can be viewed under a microscope to check for signs of cancer. This is done only if something unusual about the testicles, ovaries, or skin is found during the physical exam. + + + There is no standard staging system for childhood AML, childhood chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). + The extent or spread of cancer is usually described as stages. Instead of stages, treatment of childhood AML, childhood CML, JMML, and MDS is based on one or more of the following: - The type of disease or the subtype of AML. - Whether leukemia has spread outside the blood and bone marrow. - Whether the disease is newly diagnosed, in remission, or recurrent. Newly diagnosed childhood AML Newly diagnosed childhood AML has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain, and one of the following is true: - More than 20% of the cells in the bone marrow are blasts (leukemia cells). or - Less than 20% of the cells in the bone marrow are blasts and there is a specific change in the chromosome. Childhood AML in remission In childhood AML in remission, the disease has been treated and the following are true: - The complete blood count is almost normal. - Less than 5% of the cells in the bone marrow are blasts (leukemia cells). - There are no signs or symptoms of leukemia in the brain, spinal cord, or other parts of the body.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +what research (or clinical trials) is being done for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Natural killer (NK) cells are a type of biologic therapy. NK cells are white blood cells that can kill tumor cells. These may be taken from a donor and given to the patient by infusion to help kill leukemia cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +What are the treatments for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?,"Key Points + - There are different types of treatment for children with acute myeloid leukemia (AML), chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). - Treatment is planned by a team of health care providers who are experts in treating childhood leukemia and other diseases of the blood. - Some cancer treatments cause side effects months or years after treatment has ended. - The treatment of childhood AML usually has two phases. - Seven types of standard treatment are used for childhood AML, childhood CML, JMML, or MDS. - Chemotherapy - Radiation therapy - Stem cell transplant - Targeted therapy - Other drug therapy - Watchful waiting - Supportive care - New types of treatment are being tested in clinical trials. - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with acute myeloid leukemia (AML), chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS). + Different types of treatment are available for children with AML, CML, JMML, or MDS. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Treatment is planned by a team of health care providers who are experts in treating childhood leukemia and other diseases of the blood. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare providers who are experts in treating children with leukemia and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Hematologist. - Medical oncologist. - Pediatric surgeon. - Radiation oncologist. - Neurologist. - Neuropathologist. - Neuroradiologist. - Pediatric nurse specialist. - Social worker. - Rehabilitation specialist. - Psychologist. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Regular follow-up exams are very important. Some cancer treatments cause side effects that continue or appear months or years after cancer treatment has ended. These are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important that parents of children who are treated for AML or other blood diseases talk with their doctors about the effects cancer treatment can have on their child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + The treatment of childhood AML usually has two phases. + The treatment of childhood AML is done in phases: - Induction therapy: This is the first phase of treatment. The goal is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. - Consolidation /intensification therapy: This is the second phase of treatment. It begins once the leukemia is in remission. The goal of therapy is to kill any remaining leukemia cells that may not be active but could begin to regrow and cause a relapse. Treatment called central nervous system (CNS) sanctuary therapy may be given during the induction phase of therapy. Because standard doses of chemotherapy may not reach leukemia cells in the CNS (brain and spinal cord), the cells are able to find sanctuary (hide) in the CNS. Intrathecal chemotherapy is able to reach leukemia cells in the CNS. It is given to kill the leukemia cells and lessen the chance the leukemia will recur (come back). CNS sanctuary therapy is also called CNS prophylaxis. + + + Seven types of standard treatment are used for childhood AML, childhood CML, JMML, or MDS. + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type of cancer being treated. In AML, the leukemia cells may spread to the brain and/or spinal cord. Chemotherapy given by mouth or vein to treat AML may not cross the blood-brain barrier to get into the fluid that surrounds the brain and spinal cord. Instead, chemotherapy is injected into the fluid-filled space to kill leukemia cells that may have spread there (intrathecal chemotherapy). See Drugs Approved for Acute Myeloid Leukemia for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. In childhood AML, external radiation therapy may be used to treat a chloroma that does not respond to chemotherapy. Stem cell transplant Stem cell transplant is a way of giving chemotherapy and replacing blood-forming cells that are abnormal or destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Types of targeted therapy include the following: - Tyrosine kinase inhibitor therapy: Tyrosine kinase inhibitor (TKI) therapy blocks signals needed for tumors to grow. TKIs block the enzyme (tyrosine kinase) that causes stem cells to become more white blood cells (granulocytes or blasts) than the body needs. TKIs may be used with other anticancer drugs as adjuvant therapy (treatment given after the initial treatment, to lower the risk that the cancer will come back). - Imatinib is a type of TKI that is approved to treat childhood CML. - Sorafenib, dasatinib, and nilotinib are being studied in the treatment of childhood leukemia. - Monoclonal antibody therapy: Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. - Gemtuzumab is a type of monoclonal antibody used in the treatment of a subtype of AML called acute promyelocytic leukemia (APL). Gemtuzumab is not available in the United States unless special approval is given. Monoclonal antibodies may be used with chemotherapy as adjuvant therapy. - Proteasome inhibitor therapy: Proteasome inhibitors break down proteins in cancer cells and kill them. - Bortezomib is a proteasome inhibitor used to treat childhood APL. See Drugs Approved for Leukemia for more information. Other drug therapy Lenalidomide may be used to lessen the need for transfusions in patients who have myelodysplastic syndromes caused by a specific chromosome change. Arsenic trioxide and all-trans retinoic acid (ATRA) are anticancer drugs that kill leukemia cells, stop the leukemia cells from dividing, or help the leukemia cells mature into white blood cells. These drugs are used in the treatment of acute promyelocytic leukemia. See Drugs Approved for Acute Myeloid Leukemia for more information. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. It is sometimes used to treat MDS or TMD. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include the following: - Transfusion therapy: A way of giving red blood cells, white blood cells, or platelets to replace blood cells destroyed by disease or cancer treatment. The blood may be donated from another person or it may have been taken from the patient earlier and stored until needed. - Drug therapy, such as antibiotics or antifungal agents. - Leukapheresis: A procedure in which a special machine is used to remove white blood cells from the blood. Blood is taken from the patient and put through a blood cell separator where the white blood cells are removed. The rest of the blood is then returned to the patient's bloodstream. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Natural killer (NK) cells are a type of biologic therapy. NK cells are white blood cells that can kill tumor cells. These may be taken from a donor and given to the patient by infusion to help kill leukemia cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Acute Myeloid Leukemia, Childhood Chronic Myelogenous Leukemia, Juvenile Myelomonocytic Leukemia, and Myelodysplastic Syndromes + + + Newly Diagnosed Childhood Acute Myeloid Leukemia + Treatment of newly diagnosed childhood acute myeloid leukemia may include the following: - Combination chemotherapy plus central nervous system sanctuary therapy with intrathecal chemotherapy. - A clinical trial comparing different chemotherapy regimens (doses and schedules of treatment). - A clinical trial of combination chemotherapy and targeted therapy with a proteasome inhibitor or a tyrosine kinase inhibitor with or without stem cell transplant. Treatment of newly diagnosed childhood acute leukemia with a granulocytic sarcoma (chloroma) may include chemotherapy with or without radiation therapy. Treatment of therapy -related AML is usually the same as for newly diagnosed AML, followed by stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood acute myeloid leukemia and other myeloid malignancies. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Children with Newly Diagnosed Childhood AML and Down Syndrome + Treatment of acute myeloid leukemia (AML) in children aged 4 years or younger who have Down syndrome may include the following: - Combination chemotherapy plus central nervous system sanctuary therapy with intrathecal chemotherapy. Treatment of AML in children older than 4 years who have Down syndrome may be the same as treatment for children without Down syndrome. + + + Childhood Acute Myeloid Leukemia in Remission + Treatment of childhood acute myeloid leukemia (AML) during the remission phase (consolidation /intensification therapy) depends on the subtype of AML and may include the following: - Combination chemotherapy. - High-dose chemotherapy followed by stem cell transplant using blood stem cells from a donor. - A clinical trial of chemotherapy followed by an infusion of natural killer cells. - A clinical trial of combination chemotherapy and targeted therapy with a proteasome inhibitor or a tyrosine kinase inhibitor with or without stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood acute myeloid leukemia in remission. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Acute Myeloid Leukemia + Treatment of recurrent childhood acute myeloid leukemia (AML) may include the following: - Combination chemotherapy. - Combination chemotherapy and stem cell transplant. - A second stem cell transplant. - A clinical trial of combinations of new anticancer drugs, new biologic agents, and stem cell transplant using different sources of stem cells. Treatment of recurrent AML in children with Down syndrome is chemotherapy. It is not clear if stem cell transplant after chemotherapy is helpful in treating these children. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood acute myeloid leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Acute Promyelocytic Leukemia + Treatment of acute promyelocytic leukemia may include the following: - All-trans retinoic acid (ATRA) plus chemotherapy. - Arsenic trioxide therapy. - Central nervous system sanctuary therapy with intrathecal chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood acute promyelocytic leukemia (M3). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Acute Promyelocytic Leukemia + Treatment of recurrent acute promyelocytic leukemia may include the following: - All-trans retinoic acid therapy (ATRA) plus chemotherapy. - Arsenic trioxide therapy. - Targeted therapy with a monoclonal antibody (gemtuzumab), if special approval is given. - Stem cell transplant using blood stem cells from the patient or a donor. + + + Childhood Chronic Myelogenous Leukemia + Treatment for childhood chronic myelogenous leukemia may include the following: - Targeted therapy with a tyrosine kinase inhibitor (imatinib). - A clinical trial of targeted therapy with other tyrosine kinase inhibitors. For patients whose disease does not respond to therapy with imatinib or whose disease comes back after treatment, treatment may include the following: - Stem cell transplant using blood stem cells from a donor. - A clinical trial of targeted therapy with other tyrosine kinase inhibitors. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood chronic myelogenous leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Juvenile Myelomonocytic Leukemia + Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy followed by stem cell transplant. If JMML recurs after stem cell transplant, a second stem cell transplant may be done. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Myelodysplastic Syndromes + Treatment of myelodysplastic syndromes (MDS) may include the following: - Watchful waiting. - Stem cell transplant using blood stem cells from a donor. - Combination chemotherapy. - Lenalidomide therapy. - A clinical trial of stem cell transplant using lower doses of chemotherapy. - A clinical trial of a new anticancer drug or targeted therapy. If the MDS becomes acute myeloid leukemia (AML), treatment will be the same as treatment for newly diagnosed AML. Treatment of therapy-related MDS is usually the same as for newly diagnosed AML, followed by stem cell transplant. Transient myeloproliferative disorder (TMD), a type of MDS, usually goes away on its own. For TMD that does not go away on its own, treatment may include the following: - Transfusion therapy. - Leukapheresis. - Chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood myelodysplastic syndromes. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies +What is (are) Non-Small Cell Lung Cancer ?,"Key Points + - Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are several types of non-small cell lung cancer. - Smoking is the major risk factor for non-small cell lung cancer. - Signs of non-small cell lung cancer include a cough that doesn't go away and shortness of breath. - Tests that examine the lungs are used to detect (find), diagnose, and stage non-small cell lung cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. - For most patients with non-small cell lung cancer, current treatments do not cure the cancer. + + + Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. + The lungs are a pair of cone-shaped breathing organs in the chest. The lungs bring oxygen into the body as you breathe in. They release carbon dioxide, a waste product of the bodys cells, as you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung is slightly larger and has three lobes. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also involved in lung cancer. Tiny air sacs called alveoli and small tubes called bronchioles make up the inside of the lungs. A thin membrane called the pleura covers the outside of each lung and lines the inside wall of the chest cavity. This creates a sac called the pleural cavity. The pleural cavity normally contains a small amount of fluid that helps the lungs move smoothly in the chest when you breathe. There are two main types of lung cancer: non-small cell lung cancer and small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Small Cell Lung Cancer Treatment - Unusual Cancers of Childhood Treatment - Lung Cancer Prevention - Lung Cancer Screening + + + There are several types of non-small cell lung cancer. + Each type of non-small cell lung cancer has different kinds of cancer cells. The cancer cells of each type grow and spread in different ways. The types of non-small cell lung cancer are named for the kinds of cells found in the cancer and how the cells look under a microscope: - Squamous cell carcinoma: Cancer that begins in squamous cells, which are thin, flat cells that look like fish scales. This is also called epidermoid carcinoma. - Large cell carcinoma: Cancer that may begin in several types of large cells. - Adenocarcinoma: Cancer that begins in the cells that line the alveoli and make substances such as mucus. Other less common types of non-small cell lung cancer are: pleomorphic, carcinoid tumor, salivary gland carcinoma, and unclassified carcinoma. + + + For most patients with non-small cell lung cancer, current treatments do not cure the cancer. + If lung cancer is found, taking part in one of the many clinical trials being done to improve treatment should be considered. Clinical trials are taking place in most parts of the country for patients with all stages of non-small cell lung cancer. Information about ongoing clinical trials is available from the NCI website.",CancerGov,Non-Small Cell Lung Cancer +Who is at risk for Non-Small Cell Lung Cancer? ?,"Smoking is the major risk factor for non-small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer. Risk factors for lung cancer include the following: - Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer. - Being exposed to secondhand smoke. - Being exposed to radiation from any of the following: - Radiation therapy to the breast or chest. - Radon in the home or workplace. - Imaging tests such as CT scans. - Atomic bomb radiation. - Being exposed to asbestos, chromium, nickel, beryllium, arsenic, soot, or tar in the workplace. - Living where there is air pollution. - Having a family history of lung cancer. - Being infected with the human immunodeficiency virus (HIV). - Taking beta carotene supplements and being a heavy smoker. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. When smoking is combined with other risk factors, the risk of lung cancer is increased.",CancerGov,Non-Small Cell Lung Cancer +What are the symptoms of Non-Small Cell Lung Cancer ?,Signs of non-small cell lung cancer include a cough that doesn't go away and shortness of breath. Sometimes lung cancer does not cause any signs or symptoms. It may be found during a chest x-ray done for another condition. Signs and symptoms may be caused by lung cancer or by other conditions. Check with your doctor if you have any of the following: - Chest discomfort or pain. - A cough that doesnt go away or gets worse over time. - Trouble breathing. - Wheezing. - Blood in sputum (mucus coughed up from the lungs). - Hoarseness. - Loss of appetite. - Weight loss for no known reason. - Feeling very tired. - Trouble swallowing. - Swelling in the face and/or veins in the neck.,CancerGov,Non-Small Cell Lung Cancer +How to diagnose Non-Small Cell Lung Cancer ?,"Tests that examine the lungs are used to detect (find), diagnose, and stage non-small cell lung cancer. Tests and procedures to detect, diagnose, and stage non-small cell lung cancer are often done at the same time. Some of the following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits, including smoking, and past jobs, illnesses, and treatments will also be taken. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - Chest x-ray: An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Sputum cytology : A procedure in which a pathologist views a sample of sputum (mucus coughed up from the lungs) under a microscope, to check for cancer cells. - Fine-needle aspiration (FNA) biopsy of the lung: The removal of tissue or fluid from the lung using a thin needle. A CT scan, ultrasound, or other imaging procedure is used to locate the abnormal tissue or fluid in the lung. A small incision may be made in the skin where the biopsy needle is inserted into the abnormal tissue or fluid. A sample is removed with the needle and sent to the laboratory. A pathologist then views the sample under a microscope to look for cancer cells. A chest x-ray is done after the procedure to make sure no air is leaking from the lung into the chest. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Thoracoscopy : A surgical procedure to look at the organs inside the chest to check for abnormal areas. An incision (cut) is made between two ribs, and a thoracoscope is inserted into the chest. A thoracoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. In some cases, this procedure is used to remove part of the esophagus or lung. If certain tissues, organs, or lymph nodes cant be reached, a thoracotomy may be done. In this procedure, a larger incision is made between the ribs and the chest is opened. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.",CancerGov,Non-Small Cell Lung Cancer +What is the outlook for Non-Small Cell Lung Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the lung only or has spread to other places in the body). - The type of lung cancer. - Whether the cancer has mutations (changes) in certain genes, such as the epidermal growth factor receptor (EGFR) gene or the anaplastic lymphoma kinase (ALK) gene. - Whether there are signs and symptoms such as coughing or trouble breathing. - The patients general health.",CancerGov,Non-Small Cell Lung Cancer +What are the stages of Non-Small Cell Lung Cancer ?,"Key Points + - After lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lungs or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for non-small cell lung cancer: - Occult (hidden) stage - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IV + + + After lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lungs or to other parts of the body. + The process used to find out if cancer has spread within the lungs or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some of the tests used to diagnose non-small cell lung cancer are also used to stage the disease. (See the General Information section.) Other tests and procedures that may be used in the staging process include the following: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the brain and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Radionuclide bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - Pulmonary function test (PFT): A test to see how well the lungs are working. It measures how much air the lungs can hold and how quickly air moves into and out of the lungs. It also measures how much oxygen is used and how much carbon dioxide is given off during breathing. This is also called lung function test. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. EUS may be used to guide fine needle aspiration (FNA) biopsy of the lung, lymph nodes, or other areas. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Anterior mediastinotomy : A surgical procedure to look at the organs and tissues between the lungs and between the breastbone and heart for abnormal areas. An incision (cut) is made next to the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. This is also called the Chamberlain procedure. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if non-small cell lung cancer spreads to the brain, the cancer cells in the brain are actually lung cancer cells. The disease is metastatic lung cancer, not brain cancer. + + + The following stages are used for non-small cell lung cancer: + Occult (hidden) stage In the occult (hidden) stage, cancer cannot be seen by imaging or bronchoscopy. Cancer cells are found in sputum (mucus coughed up from the lungs) or bronchial washing (a sample of cells taken from inside the airways that lead to the lung). Cancer may have spread to other parts of the body. Stage 0 (carcinoma in situ) In stage 0, abnormal cells are found in the lining of the airways. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB: - Stage IA: The tumor is in the lung only and is 3 centimeters or smaller. - Stage IB: Cancer has not spread to the lymph nodes and one or more of the following is true: - The tumor is larger than 3 centimeters but not larger than 5 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. Stage II Stage II is divided into stages IIA and IIB. Stage IIA and IIB are each divided into two sections depending on the size of the tumor, where the tumor is found, and whether there is cancer in the lymph nodes. - Stage IIA: (1) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also, one or more of the following is true: - The tumor is not larger than 5 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. or (2) Cancer has not spread to lymph nodes and one or more of the following is true: - The tumor is larger than 5 centimeters but not larger than 7 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. - Stage IIB: (1) Cancer has spread to nearby lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also, one or more of the following is true: - The tumor is larger than 5 centimeters but not larger than 7 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. or (2) Cancer has not spread to lymph nodes and one or more of the following is true: - The tumor is larger than 7 centimeters. - Cancer has spread to the main bronchus (and is less than 2 centimeters below where the trachea joins the bronchus), the chest wall, the diaphragm, or the nerve that controls the diaphragm. - Cancer has spread to the membrane around the heart or lining the chest wall. - The whole lung has collapsed or developed pneumonitis (inflammation of the lung). - There are one or more separate tumors in the same lobe of the lung. Stage IIIA Stage IIIA is divided into three sections depending on the size of the tumor, where the tumor is found, and which lymph nodes have cancer (if any). (1) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are near the sternum (chest bone) or where the bronchus enters the lung. Also: - The tumor may be any size. - Part of the lung (where the trachea joins the bronchus) or the whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in the same lobe of the lung. - Cancer may have spread to any of the following: - Main bronchus, but not the area where the trachea joins the bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Membrane around the heart. or (2) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also: - The tumor may be any size. - The whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in any of the lobes of the lung with cancer. - Cancer may have spread to any of the following: - Main bronchus, but not the area where the trachea joins the bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Heart or the membrane around it. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). or (3) Cancer has not spread to the lymph nodes and the tumor may be any size. Cancer has spread to any of the following: - Heart. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). Stage IIIB Stage IIIB is divided into two sections depending on the size of the tumor, where the tumor is found, and which lymph nodes have cancer. (1) Cancer has spread to lymph nodes above the collarbone or to lymph nodes on the opposite side of the chest as the tumor. Also: - The tumor may be any size. - Part of the lung (where the trachea joins the bronchus) or the whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in any of the lobes of the lung with cancer. - Cancer may have spread to any of the following: - Main bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Heart or the membrane around it. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). or (2) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are near the sternum (chest bone) or where the bronchus enters the lung. Also: - The tumor may be any size. - There may be separate tumors in different lobes of the same lung. - Cancer has spread to any of the following: - Heart. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). Stage IV In stage IV, the tumor may be any size and cancer may have spread to lymph nodes. One or more of the following is true: - There are one or more tumors in both lungs. - Cancer is found in fluid around the lungs or the heart. - Cancer has spread to other parts of the body, such as the brain, liver, adrenal glands, kidneys, or bone.",CancerGov,Non-Small Cell Lung Cancer +What are the treatments for Non-Small Cell Lung Cancer ?,"Key Points + - There are different types of treatment for patients with non-small cell lung cancer. - Nine types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Laser therapy - Photodynamic therapy (PDT) - Cryosurgery - Electrocautery - Watchful waiting - New types of treatment are being tested in clinical trials. - Chemoprevention - Radiosensitizers - New combinations - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with non-small cell lung cancer. + Different types of treatments are available for patients with non-small cell lung cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Nine types of standard treatment are used: + Surgery Four types of surgery are used to treat lung cancer: - Wedge resection: Surgery to remove a tumor and some of the normal tissue around it. When a slightly larger amount of tissue is taken, it is called a segmental resection. - Lobectomy: Surgery to remove a whole lobe (section) of the lung. - Pneumonectomy: Surgery to remove one whole lung. - Sleeve resection: Surgery to remove part of the bronchus. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. Stereotactic radiosurgery is a type of external radiation therapy used to treat lung cancer that has spread to the brain. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor in the brain. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. For tumors in the airways, radiation is given directly to the tumor through an endoscope. The way the radiation therapy is given depends on the type and stage of the cancer being treated. It also depends on where the cancer is found. External and internal radiation therapy are used to treat non-small cell lung cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Non-Small Cell Lung Cancer for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Monoclonal antibodies and tyrosine kinase inhibitors are the two main types of targeted therapy being used to treat advanced, metastatic, or recurrent non-small cell lung cancer. Monoclonal antibodies Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances in the blood or tissues that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. There are different types of monoclonal antibody therapy: - Vascular endothelial growth factor (VEGF) inhibitor therapy: Cancer cells make a substance called VEGF, which causes new blood vessels to form (angiogenesis) and helps the cancer grow. VEGF inhibitors block VEGF and stop new blood vessels from forming. This may kill cancer cells because they need new blood vessels to grow. Bevacizumab and ramucirumab are VEGF inhibitors and angiogenesis inhibitors. - Epidermal growth factor receptor (EGFR) inhibitor therapy: EGFRs are proteins found on the surface of certain cells, including cancer cells. Epidermal growth factor attaches to the EGFR on the surface of the cell and causes the cells to grow and divide. EGFR inhibitors block the receptor and stop the epidermal growth factor from attaching to the cancer cell. This stops the cancer cell from growing and dividing. Cetuximab and necitumumab are EGFR inhibitors. - Immune checkpoint inhibitor therapy: PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Nivolumab, pembrolizumab, and atezolizumab are types of immune checkpoint inhibitors. Tyrosine kinase inhibitors Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. Some tyrosine kinase inhibitors also have angiogenesis inhibitor effects. There are different types of tyrosine kinase inhibitors: - Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors: EGFRs are proteins found on the surface and inside certain cells, including cancer cells. Epidermal growth factor attaches to the EGFR inside the cell and sends signals to the tyrosine kinase area of the cell, which tells the cell to grow and divide. EGFR tyrosine kinase inhibitors stop these signals and stop the cancer cell from growing and dividing. Erlotinib, gefitinib, and afatinib are types of EGFR tyrosine kinase inhibitors. Some of these drugs work better when there is also a mutation (change) in the EGFR gene. - Kinase inhibitors that affect cells with certain gene changes: Certain changes in the ALK and ROS1 genes cause too much protein to be made. Blocking these proteins may stop the cancer from growing and spreading. Crizotinib is used to stop proteins from being made by the ALK and ROS1 gene. Ceritinib is used to stop proteins from being made by the ALK gene. See Drugs Approved for Non-Small Cell Lung Cancer for more information. Laser therapy Laser therapy is a cancer treatment that uses a laser beam (a narrow beam of intense light) to kill cancer cells. Photodynamic therapy (PDT) Photodynamic therapy (PDT) is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. Fiberoptic tubes are then used to carry the laser light to the cancer cells, where the drug becomes active and kills the cells. Photodynamic therapy causes little damage to healthy tissue. It is used mainly to treat tumors on or just under the skin or in the lining of internal organs. When the tumor is in the airways, PDT is given directly to the tumor through an endoscope. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy abnormal tissue, such as carcinoma in situ. This type of treatment is also called cryotherapy. For tumors in the airways, cryosurgery is done through an endoscope. Electrocautery Electrocautery is a treatment that uses a probe or needle heated by an electric current to destroy abnormal tissue. For tumors in the airways, electrocautery is done through an endoscope. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. This may be done in certain rare cases of non-small cell lung cancer. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of cancer or to reduce the risk cancer will recur (come back). For lung cancer, chemoprevention is used to lessen the chance that a new tumor will form in the lung. Radiosensitizers Radiosensitizers are substances that make tumor cells easier to kill with radiation therapy. The combination of chemotherapy and radiation therapy given with a radiosensitizer is being studied in the treatment of non-small cell lung cancer. New combinations New combinations of treatments are being studied in clinical trials. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Occult Non-Small Cell Lung Cancer + Treatment of occult non-small cell lung cancer depends on the stage of the disease. Occult tumors are often found at an early stage (the tumor is in the lung only) and sometimes can be cured by surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with occult non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 may include the following: - Surgery (wedge resection or segmental resection). - Photodynamic therapy for tumors in or near the bronchus. - Electrocautery, cryosurgery, or laser surgery for tumors in or near the bronchus. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Non-Small Cell Lung Cancer + Treatment of stage I non-small cell lung cancer may include the following: - Surgery (wedge resection, segmental resection, sleeve resection, or lobectomy). - External radiation therapy, including stereotactic body radiation therapy for patients who cannot have surgery or choose not to have surgery. - A clinical trial of chemotherapy or radiation therapy following surgery. - A clinical trial of treatment given through an endoscope, such as photodynamic therapy (PDT). - A clinical trial of surgery followed by chemoprevention. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Non-Small Cell Lung Cancer + Treatment of stage II non-small cell lung cancer may include the following: - Surgery (wedge resection, segmental resection, sleeve resection, lobectomy, or pneumonectomy). - Chemotherapy followed by surgery. - Surgery followed by chemotherapy. - External radiation therapy for patients who cannot have surgery. - A clinical trial of radiation therapy following surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIA Non-Small Cell Lung Cancer + Treatment of stage IIIA non-small cell lung cancer that can be removed with surgery may include the following: - Surgery followed by chemotherapy. - Surgery followed by radiation therapy. - Chemotherapy followed by surgery. - Surgery followed by chemotherapy combined with radiation therapy. - Chemotherapy and radiation therapy followed by surgery. - A clinical trial of new combinations of treatments. Treatment of stage IIIA non-small cell lung cancer that cannot be removed with surgery may include the following: - Chemotherapy and radiation therapy given over the same period of time or one followed by the other. - External radiation therapy alone for patients who cannot be treated with combined therapy, or as palliative treatment to relieve symptoms and improve the quality of life. - Internal radiation therapy or laser surgery, as palliative treatment to relieve symptoms and improve the quality of life. - A clinical trial of new combinations of treatments. For more information about supportive care for signs and symptoms including cough, shortness of breath, and chest pain, see the PDQ summary on Cardiopulmonary Syndromes. Non-small cell lung cancer of the superior sulcus, often called Pancoast tumor, begins in the upper part of the lung and spreads to nearby tissues such as the chest wall, large blood vessels, and spine. Treatment of Pancoast tumors may include the following: - Radiation therapy alone. - Radiation therapy followed by surgery. - Chemotherapy and radiation therapy given as separate treatments over the same period of time. Surgery may also be done after chemotherapy and radiation therapy. - Surgery alone. - A clinical trial of new combinations of treatments. Some stage IIIA non-small cell lung tumors that have grown into the chest wall may be completely removed. Treatment of chest wall tumors may include the following: - Surgery. - Surgery and radiation therapy. - Radiation therapy alone. - Chemotherapy combined with radiation therapy and/or surgery. - A clinical trial of new combinations of treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIB Non-Small Cell Lung Cancer + Treatment of stage IIIB non-small cell lung cancer may include the following: - Chemotherapy followed by external radiation therapy. - Chemotherapy and radiation therapy given as separate treatments over the same period of time. - Chemotherapy followed by surgery. - External radiation therapy alone for patients who cannot be treated with chemotherapy. - External radiation therapy as palliative therapy, to relieve symptoms and improve the quality of life. - Laser therapy and/or internal radiation therapy to relieve symptoms and improve the quality of life. - Clinical trials of new external radiation therapy schedules and new types of treatment. - A clinical trial of chemotherapy and radiation therapy combined with a radiosensitizer. - Clinical trials of targeted therapy combined with chemotherapy and radiation therapy. For more information about supportive care for signs and symptoms such as cough, shortness of breath, and chest pain, see the following PDQ summaries: - Cardiopulmonary Syndromes - Cancer Pain Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Non-Small Cell Lung Cancer + Treatment of stage IV non-small cell lung cancer may include the following: - Chemotherapy. - Chemotherapy followed by more chemotherapy as maintenance therapy to help keep cancer from progressing. - Combination chemotherapy and targeted therapy with a monoclonal antibody, such as bevacizumab, cetuximab, or necitumumab. - Targeted therapy with a monoclonal antibody, such as nivolumab, pembrolizumab, or atezolizumab. - Targeted therapy with a tyrosine kinase inhibitor, such as erlotinib, gefitinib, afatinib, crizotinib, or ceritinib. - External radiation therapy as palliative therapy, to relieve symptoms and improve the quality of life. - Laser therapy and/or internal radiation therapy for tumors that are blocking the airways. - A clinical trial of new drugs and combinations of treatments. For more information about supportive care for signs and symptoms including cough, shortness of breath, and chest pain, see the following PDQ summaries: - Cardiopulmonary Syndromes - Cancer Pain - Last Days of Life Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV non-small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Non-Small Cell Lung Cancer +what research (or clinical trials) is being done for Non-Small Cell Lung Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of cancer or to reduce the risk cancer will recur (come back). For lung cancer, chemoprevention is used to lessen the chance that a new tumor will form in the lung. Radiosensitizers Radiosensitizers are substances that make tumor cells easier to kill with radiation therapy. The combination of chemotherapy and radiation therapy given with a radiosensitizer is being studied in the treatment of non-small cell lung cancer. New combinations New combinations of treatments are being studied in clinical trials. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Non-Small Cell Lung Cancer +What is (are) Juvenile Myelomonocytic Leukemia ?,"Key Points + - Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. + Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer that occurs more often in children younger than 2 years. Children who have neurofibromatosis type 1 and males have an increased risk of juvenile myelomonocytic leukemia. In JMML, the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.",CancerGov,Juvenile Myelomonocytic Leukemia +What are the symptoms of Juvenile Myelomonocytic Leukemia ?,"Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by JMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Having infections, such as bronchitis or tonsillitis. - Feeling very tired. - Easy bruising or bleeding. - Skin rash. - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin. - Pain or a feeling of fullness below the ribs.",CancerGov,Juvenile Myelomonocytic Leukemia +What is the outlook for Juvenile Myelomonocytic Leukemia ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for JMML depend on the following: - The age of the child at diagnosis. - The number of platelets in the blood. - The amount of a certain type of hemoglobin in red blood cells.,CancerGov,Juvenile Myelomonocytic Leukemia +What are the treatments for Juvenile Myelomonocytic Leukemia ?,"Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Juvenile Myelomonocytic Leukemia +What is (are) Childhood Vascular Tumors ?,"Key Points + - Childhood vascular tumors form from cells that make blood vessels or lymph vessels. - Tests are used to detect (find) and diagnose childhood vascular tumors. - Childhood vascular tumors may be classified into four groups. - Benign tumors - Intermediate (locally aggressive) tumors - Intermediate (rarely metastasizing) tumors - Malignant tumors + + + Childhood vascular tumors form from cells that make blood vessels or lymph vessels. + Vascular tumors can form from abnormal blood vessel or lymph vessel cells anywhere in the body. They may be benign (not cancer) or malignant (cancer). There are many types of vascular tumors. The most common type of childhood vascular tumor is hemangioma, which is a benign tumor that usually goes away on its own. Because malignant vascular tumors are rare in children, there is not a lot of information about what treatment works best. + + + Childhood vascular tumors may be classified into four groups. + + + Benign tumors Benign tumors are not cancer. This summary has information about the following benign vascular tumors: - Infantile hemangioma. - Congenital hemangioma. - Benign vascular tumors of the liver. - Spindle cell hemangioma. - Epithelioid hemangioma. - Pyogenic granuloma (lobular capillary hemangioma). - Angiofibroma. - Juvenile nasopharyngeal angiofibroma. Intermediate (locally aggressive) tumors Intermediate tumors that are locally aggressive often spread to the area around the tumor. This summary has information about the following locally aggressive vascular tumors: - Kaposiform hemangioendothelioma and tufted angioma. Intermediate (rarely metastasizing) tumors Intermediate (rarely metastasizing) tumors sometimes spread to other parts of the body. This summary has information about the following vascular tumors that rarely metastasize: - Retiform hemangioendothelioma. - Papillary intralymphatic angioendothelioma. - Composite hemangioendothelioma. - Kaposi sarcoma. Malignant tumors Malignant tumors are cancer. This summary has information about the following malignant vascular tumors: - Epithelioid hemangioendothelioma. - Angiosarcoma of soft tissue. + + + + + Benign Tumors + + + Infantile Hemangioma + Infantile hemangiomas are the most common type of benign vascular tumor in children. An infantile hemangioma may also be called a ""strawberry mark."" Immature cells that are meant to form blood vessels form a tumor instead. These tumors are not usually seen at birth but appear when the infant is 3 to 6 weeks old. Most hemangiomas get bigger for about 5 months, then stop growing and slowly fade away completely during the next several years. It is rare for them to come back. Hemangiomas may be on the skin, in the tissue below the skin, and/or in an organ. They are usually on the head and neck but can be anywhere on or in the body. Hemangiomas may appear as a single lesion, one or more lesions spread over a larger area of the body, or multiple lesions in more than one part of the body. Lesions that are spread over a larger area of the body or multiple lesions are more likely to cause problems. Risk Factors Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get the disease; not having risk factors doesnt mean that you will not get the disease. Talk with your child's doctor if you think your child may be at risk. Infantile hemangiomas are more common in the following: - Girls. - Whites. - Premature babies. - Twins, triplets, or other multiple births. - Babies of mothers who are older at time of the pregnancy or who have problems with the placenta during pregnancy. Other risk factors for infantile hemangiomas include the following: - Having certain syndromes. - PHACE syndrome: A syndrome in which the hemangioma spreads across a large area of the body (usually the head or face). Other health problems involving the large blood vessels, heart, eyes, and/or brain may also occur. - LUMBAR/PELVIS/SACRAL syndrome: A syndrome in which the hemangioma spreads across a large area of the lower back. Other health problems that affect the urinary system, genitals, rectum, anus, brain, spinal cord, and nerve function may also occur. Having more than one hemangioma or an airway hemangioma increases the risk of having other health problems. - Multiple hemangiomas: Having more than five hemangiomas on the skin is a sign that there may be hemangiomas in an organ, most commonly the liver. Heart, muscle, and thyroid gland problems can also occur. - Airway hemangiomas: Hemangiomas in the airway usually occur along with a large, beard-shaped area of hemangioma on the face (from the ears, around the mouth, lower chin, and front of neck). It is important for airway hemangiomas to be treated before the child has trouble breathing. Signs and Symptoms Infantile hemangiomas may cause any of the following signs and symptoms. Check with your childs doctor if your child has any of the following: - Skin lesions: An area of spidery veins or lightened or discolored skin may appear before the hemangioma does. Hemangiomas occur as firm, warm, bright red-blue lesions on the skin. Lesions that form ulcers are also painful. Later, as the hemangiomas go away, they begin fading in the center before flattening and losing color. - Lesions below the skin: Lesions that grow under the skin in the fat may appear blue or purple. If the lesions are deep enough under the skin surface, they may not be seen. - Lesions in an organ: There may be no signs that hemangiomas have formed on an organ. Although most infantile hemangiomas are nothing to worry about, if your child develops any lumps or red or blue marks on the skin check with your child's doctor. He or she can recommend a specialist if needed. Diagnostic Tests A physical exam and history are usually all that are needed to diagnose infantile hemangiomas. If there is something about the tumor that looks unusual, a biopsy may be done. If the hemangioma is deeper inside the body with no change to the skin, or the lesions are spread across a large area of the body, an ultrasound or MRI may be done. See the General Information section for a description of these tests and procedures. If the hemangiomas are part of a syndrome, more tests may be done such as an echocardiogram, magnetic resonance angiogram, and eye exam. Treatment Most hemangiomas fade and shrink without treatment. If the hemangioma is large or causing other health problems, treatment may include the following: - Propranolol or other beta-blocker therapy. - Steroid therapy, before beta-blocker therapy is begun or when beta-blockers cannot be used. - Pulsed dye laser surgery, for hemangiomas that have ulcers or have not gone away. - Surgery (excision) for hemangiomas that have ulcers, cause vision problems, or have not gone away. - Topical beta-blocker therapy for hemangiomas that are in one area of the skin. - Combined therapy, such as propranolol and steroid therapy or propranolol and topical beta-blocker therapy. + + + Congenital Hemangioma + Congenital hemangioma is a benign vascular tumor that begins forming before birth and is fully formed when the baby is born. They're usually on the skin but can be in another organ. There are three types of congenital hemangiomas: - Rapidly Involuting Congenital Hemangioma: These tumors go away on their own 12 to 15 months after birth. They can form ulcers, bleed, and cause temporary heart and blood clotting problems. The skin may look a little different even after the hemangiomas go away. - Partial Involuting Congenital Hemangioma: These tumors do not go away completely. - Non-Involuting Congenital Hemangioma: These tumors never go away on their own. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose congenital hemangioma. Treatment Treatment of rapidly involuting congenital hemangioma and partial involuting congenital hemangioma may include the following: - Observation only. Treatment of non-involuting congenital hemangioma may include the following: - Surgery to remove the tumor depending on where it is and whether it is causing symptoms. + + + Benign Vascular Tumors of the Liver + Benign vascular tumors of the liver may be focal (a single lesion in one area of the liver), multifocal (multiple lesions in one area of the liver), or diffuse (multiple lesions in more than one area of the liver). The liver has many functions, including filtering blood and making proteins needed for blood clotting. Sometimes, blood that normally flows through the liver is blocked or slowed by the tumor. This sends blood directly to the heart without going through the liver and is called a liver shunt. This can cause heart failure and problems with blood clotting. Focal Tumors Focal tumors are usually rapidly involuting congenital hemangiomas or non-involuting congenital hemangiomas. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose focal benign vascular tumors. Treatment Treatment of focal tumors of the liver depends on whether symptoms occur and may include the following: - Observation. - Drugs to manage symptoms, including heart failure and blood clotting problems. - Embolization of the liver to manage symptoms, including heart failure. Multifocal and Diffuse Tumors Multifocal and diffuse tumors of the liver are usually infantile hemangiomas. Diffuse tumors of the liver can cause serious effects, including problems with the thyroid gland and heart. The liver can enlarge, press on other organs, and cause more symptoms. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose multifocal or diffuse benign vascular tumors. Treatment Treatment of multifocal and diffuse liver tumors may include the following: - Observation for multifocal tumors of the liver that do not cause symptoms. - Beta-blocker therapy (propranolol). - Chemotherapy. - Steroid therapy. - Total hepatectomy and liver transplant, when the tumors do not respond to drug therapy. This is only done when the tumors have spread widely in the liver and more than one organ has failed. If a vascular tumor of the liver does not respond to standard treatments, a biopsy may be done to see if the tumor has become malignant. + + + Spindle Cell Hemangioma + Spindle cell hemangiomas contain cells called spindle cells. Under a microscope, spindle cells look long and slender. Risk Factors Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get the disease; not having risk factors doesnt mean that you will not get the disease. Talk with your child's doctor if you think your child may be at risk. Spindle cell hemangiomas are likely to occur in children with the following syndromes: - Maffucci syndrome, which affects cartilage and skin. - Klippel-Trenaunay syndrome, which affects blood vessels, soft tissues, and bones. Signs Spindle cell hemangiomas appear on or under the skin. They are painful red-brown or bluish lesions that usually appear on the arms or legs. They can begin as one lesion and develop into more lesions over years. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose spindle cell hemangioma. Treatment There is no standard treatment for spindle cell hemangiomas. Treatment may include the following: - Surgery to remove the tumor. Spindle cell hemangiomas may come back after surgery. + + + Epithelioid Hemangioma + Epithelioid hemangiomas usually form on or in the skin, especially the head, but can occur in other areas, such as bone. Signs and Symptoms Epithelioid hemangiomas are sometimes caused by injury. On the skin, they may appear as firm pink to red bumps and may be itchy. Epithelioid hemangioma of the bone may cause swelling, pain, and weakened bone in the affected area. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose epithelioid hemangioma. Treatment There is no standard treatment for epithelioid hemangiomas. Treatment may include the following: - Surgery (curettage or resection). - Sclerotherapy. - Radiation therapy in rare cases. Epithelioid hemangiomas often come back after treatment. + + + Pyogenic Granuloma + Pyogenic granuloma is also called lobular capillary hemangioma. It is most common in older children and young adults but may occur at any age. The lesions are sometimes caused by injury or from the use of certain medicines, including birth control pills and retinoids. They may also form for no known reason inside capillaries (the smallest blood vessels) or other places on the body. Usually there is only one lesion, but sometimes multiple lesions occur in the same area or the lesions may spread to other areas of the body. Signs Pyogenic granulomas are raised, bright red lesions that may be small or large and smooth or bumpy. They grow quickly over weeks to months and may bleed a lot. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose pyogenic granuloma. Treatment Some pyogenic granulomas go away without treatment. Other pyogenic granulomas need treatment that may include the following: - Surgery (excision or curettage) to remove the lesion. - Laser photocoagulation. Pyogenic granulomas often come back after treatment. + + + Angiofibroma + Angiofibromas are rare. They are benign skin lesions that usually occur with a condition called tuberous sclerosis (an inherited disorder that causes skin lesions, seizures, and mental disabilities). Signs Angiofibromas appear as red bumps on the face. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose angiofibroma. Treatment Treatment of angiofibromas may include the following: - Surgery (excision) to remove the tumor. - Laser therapy. - Targeted therapy (sirolimus). + + + Juvenile Nasopharyngeal Angiofibroma + Juvenile nasopharyngeal angiofibromas are benign tumors but they can invade nearby tissue. They begin in the nasal cavity and may spread to the nasopharynx, the paranasal sinuses, the bone around the eyes, and sometimes to the brain. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose juvenile nasopharyngeal angiofibroma. Treatment Treatment of juvenile nasopharyngeal angiofibromas may include the following: - Surgery (excision) to remove the tumor. - Radiation therapy. - Chemotherapy. - Immunotherapy (interferon). - Targeted therapy (sirolimus). + + + + + Intermediate Tumors that Spread Locally + + + Kaposiform Hemangioendothelioma and Tufted Angioma + Kaposiform hemangioendotheliomas and tufted angiomas are blood vessel tumors that occur in infants or during early childhood. These tumors can cause Kasabach-Merritt phenomenon, a condition in which the blood is not able to clot and serious bleeding may occur. In Kasabach-Merritt phenomenon the tumor traps and destroys platelets (blood-clotting cells). Then there aren't enough platelets in the blood when needed to stop bleeding. This type of vascular tumor is not related to Kaposi sarcoma. Signs and Symptoms Kaposiform hemangioendotheliomas and tufted angiomas usually occur on the skin of the arms and legs, but may also form in deeper tissues, such as muscle or bone. Signs and symptoms may include the following: - Firm, painful areas of skin that look bruised. - Purple or brownish-red areas of skin. - Easy bruising. - Bleeding more than the usual amount from mucous membranes, wounds, and other tissues. - Anemia (weakness, feeling tired, or looking pale). Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose kaposiform hemangioendothelioma. If a physical exam and MRI clearly show the tumor is a kaposiform hemangioendothelioma or a tufted angioma, a biopsy may not be needed. A biopsy is not always done because serious bleeding can occur. Treatment Treatment of kaposiform hemangioendotheliomas and tufted angiomas depends on the child's symptoms. Infection, delay in treatment, and surgery can cause bleeding that is life-threatening. Kaposiform hemangioendotheliomas and tufted angiomas are best treated by a vascular anomaly specialist. Treatment and supportive care to manage bleeding may include the following: - Steroid therapy which may be followed by chemotherapy. - Non-steroidal anti-inflammatory drugs (NSAID), such as aspirin. - Immunotherapy (interferon). - Antifibrinolytic therapy to improve blood clotting. - Chemotherapy with one or more anticancer drugs. - Beta-blocker therapy (propranolol). - Surgery (excision) to remove the tumor, with or without embolization. - Targeted therapy (sirolimus). - A clinical trial of targeted therapy (sirolimus) and steroid therapy. Even with treatment, these tumors do not fully go away and can come back. Long-term effects include chronic pain, heart failure, bone problems, and lymphedema (the build up of lymph fluid in tissues). + + + + + Intermediate Tumors that Rarely Spread + + + Retiform Hemangioendothelioma + Retiform hemangioendotheliomas are slow growing, flat tumors that occur in young adults and sometimes children. These tumors usually occur on or under the skin of the arms, legs, and trunk. These tumors often come back after treatment, but they usually do not spread to other parts of the body. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose retiform hemangioendothelioma. Treatment Treatment of retiform hemangioendotheliomas may include the following: - Surgery (excision) to remove the tumor. Follow up will include monitoring to see if the tumor comes back. - Radiation therapy and chemotherapy when surgery cannot be done or when the tumor has come back. + + + Papillary Intralymphatic Angioendothelioma + Papillary intralymphatic angioendotheliomas are also called Dabska tumors. These tumors form in or under the skin anywhere on the body. The tumors contain channels that look like lymph vessels. Lymph nodes are sometimes affected. Signs Papillary intralymphatic angioendotheliomas may appear as firm, raised, purplish bumps, which may be small or large. These tumors grow slowly over time. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose papillary intralymphatic angioendothelioma. Treatment Treatment of papillary intralymphatic angioendotheliomas may include the following: - Surgery (excision) to remove the tumor. + + + Composite Hemangioendothelioma + Composite hemangioendotheliomas have features of both benign and malignant vascular tumors. These tumors usually occur on or under the skin on the arms or legs. They may also occur on the head, neck, or chest. Composite hemangioendotheliomas are not likely to metastasize (spread) but they may come back in the same place. When the tumors metastasize, they usually spread to nearby lymph nodes. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose composite hemangioendothelioma and find out whether the tumor has spread. Treatment Treatment of composite hemangioendotheliomas may include the following: - Surgery to remove the tumor. - Radiation therapy and chemotherapy for tumors that have spread. + + + Kaposi Sarcoma + Kaposi sarcoma is a cancer that causes lesions to grow in the skin; the mucous membranes lining the mouth, nose, and throat; lymph nodes; or other organs. It is caused by the Kaposi sarcoma herpes virus (KSHV). In the United States, it usually occurs in people who have a weak immune system caused by AIDS or by drugs used in organ transplants. It is very rare in children and can be caused by HIV infection and rare immune system disorders. Signs Signs in children may include the following: - Lesions in the skin, mouth, or throat. Skin lesions are red, purple, or brown and change from flat, to raised, to scaly areas called plaques, to nodules. - Swollen lymph nodes. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose Kaposi sarcoma. Treatment Treatment of Kaposi sarcoma may include the following: - Chemotherapy. See the PDQ summary on Kaposi Sarcoma Treatment for information about Kaposi sarcoma in adults. + + + + + Malignant Tumors + + + Epithelioid Hemangioendothelioma + Epithelioid hemangioendotheliomas can occur in children, but are most common in adults between 30 and 50 years of age. They usually occur in the liver, lung, or in bone. They may be either fast growing or slow growing. In about a third of cases, the tumor spreads to other parts of the body very quickly. Signs and Symptoms Signs and symptoms depend on where the tumor is: - On the skin, the tumors can be raised and rounded or flat, red-brown patches that feel warm. - In the lung, there may be no early symptoms. Signs and symptoms that occur may include: - Chest pain. - Spitting up blood. - Anemia (weakness, feeling tired, or looking pale). - Trouble breathing (from scarred lung tissue). - In bone, the tumors can cause breaks. Diagnostic Tests Epithelioid hemangioendotheliomas in the liver are found with CT scans and MRI scans. See the General Information section for a description of these tests and procedures used to diagnose epithelioid hemangioendothelioma and find out whether the tumor has spread. X-rays may also be done. Treatment Treatment of slow-growing epithelioid hemangioendotheliomas includes the following: - Observation. Treatment of fast-growing epithelioid hemangioendotheliomas may include the following: - Surgery to remove the tumor when possible. - Immunotherapy (interferon) and targeted therapy (thalidomide, sorafenib, pazopanib, sirolimus) for tumors that are likely to spread. - Chemotherapy. - Total hepatectomy and liver transplant when the tumor is in the liver. + + + Angiosarcoma of the Soft Tissue + Angiosarcomas are fast-growing tumors that form in blood vessels or lymph vessels in any part of the body, usually in soft tissue. Most angiosarcomas are in or near the skin. Those in deeper soft tissue can form in the liver, spleen, and lung. These tumors are very rare in children. Children sometimes have more than one tumor in the skin and/or liver. Risk Factors Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get the disease; not having risk factors doesnt mean that you will not get the disease. Talk with your child's doctor if you think your child may be at risk. Risk factors for angiosarcomas include the following: - Being exposed to radiation. - Chronic (long-term) lymphedema, a condition in which extra lymph fluid builds up in tissues and causes swelling. - Having a benign vascular tumor. A benign tumor, such as a hemangioma, may become an angiosarcoma but this rare. Signs Signs of angiosarcoma depend on where the tumor is and may include the following: - Red patches on the skin that bleed easily. - Purple tumors. Diagnostic Tests See the General Information section for a description of tests and procedures used to diagnose angiosarcoma and find out whether the tumor has spread. Treatment Treatment of angiosarcoma may include the following: - Surgery to completely remove the tumor. - A combination of surgery, chemotherapy, and radiation therapy for angiosarcomas that have spread. - Targeted therapy (bevacizumab) and chemotherapy for angiosarcomas that began as infantile hemangiomas. - A clinical trial of targeted therapy, radiation therapy, and surgery with or without chemotherapy.",CancerGov,Childhood Vascular Tumors +How to diagnose Childhood Vascular Tumors ?,"Tests are used to detect (find) and diagnose childhood vascular tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps, lesions, or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. A biopsy is not always needed to diagnose a vascular tumor.",CancerGov,Childhood Vascular Tumors +What are the treatments for Childhood Vascular Tumors ?,"Key Points + - There are different types of treatment for childhood vascular tumors. - Children with childhood vascular tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Some treatments cause side effects months or years after treatment has ended. - Eleven types of standard treatment are used: - Beta-blocker therapy - Surgery - Photocoagulation - Embolization - Chemotherapy - Sclerotherapy - Radiation therapy - Targeted therapy - Immunotherapy - Other drug therapy - Observation - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for childhood vascular tumors. + Different types of treatment are available for children with vascular tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because vascular tumors in children are rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with childhood vascular tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with cancer and who specialize in certain areas of medicine. These may include the following specialists: - Pediatric vascular anomaly specialist (expert in treating children with vascular tumors). - Pediatric surgeon. - Orthopedic surgeon. - Radiation oncologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. + + + Some treatments cause side effects months or years after treatment has ended. + Some treatments, such as chemotherapy and radiation therapy, cause side effects that continue or appear months or years after treatment has ended. These are called late effects. Late effects of treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the possible late effects caused by some treatments. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Eleven types of standard treatment are used: + Beta-blocker therapy Beta-blockers are drugs that decrease blood pressure and heart rate. When used in patients with vascular tumors, beta-blockers may help shrink the tumors. Beta-blocker therapy may be given by vein (IV), by mouth, or placed on the skin (topical). The way the beta-blocker therapy is given depends on the type of vascular tumor and where the tumor first formed. The beta-blocker propranolol is usually the first treatment for hemangiomas. Infants treated with IV propranolol may need to have their treatment started in a hospital. Propranolol is also used to treat benign vascular tumor of liver and kaposiform hemangioendothelioma. Other beta-blockers used to treat vascular tumors include atenolol, nadolol, and timolol. Infantile hemangioma may also be treated with propranolol and steroid therapy or propranolol and topical beta-blocker therapy. See the drug information summary on Propranolol Hydrochloride for more information. Surgery The following types of surgery may be used to remove many types of vascular tumors: - Excision: Surgery to remove the entire tumor and some of the healthy tissue around it. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a skin lesion such as a tumor. Surgery with a pulsed dye laser may be used for some hemangiomas. This type of laser uses a beam of light that targets blood vessels in the skin. The light is changed into heat and the blood vessels are destroyed without damaging nearby skin. - Total hepatectomy and liver transplant: A surgical procedure to remove the entire liver followed by a transplant of a healthy liver from a donor. - Curettage: A procedure in which abnormal tissue is removed using a small, spoon-shaped instrument called a curette. The type of surgery used depends on the type of vascular tumor and where the tumor formed in the body. For malignant tumors, even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the tumor will come back, is called adjuvant therapy. Photocoagulation Photocoagulation is the use of an intense beam of light, such as a laser, to seal off blood vessels or destroy tissue. It is used to treat pyogenic granuloma. Embolization Embolization is a procedure that uses particles, such as tiny gelatin sponges or beads, to block blood vessels in the liver. It may be used to treat some benign vascular tumors of the liver and kaposiform hemangioendothelioma. Chemotherapy Chemotherapy is a treatment that uses drugs to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach tumor cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect tumor cells in those areas (regional chemotherapy). Chemotherapy for hemangiomas may also be given topically (applied to the skin in a cream or lotion). The way the chemotherapy is given depends on the type of the vascular tumor being treated. Sclerotherapy Sclerotherapy is a treatment used to destroy the blood vessel with the tumor. A liquid is injected into the blood vessel, causing it to scar and break down. Over time, the destroyed blood vessel is absorbed into normal tissue. The blood flows through nearby healthy veins instead. Sclerotherapy is used in the treatment of epithelioid hemangioma. Radiation therapy Radiation therapy is a treatment that uses high-energy x-rays or other types of radiation to kill tumor cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the tumor. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the tumor. The way the radiation therapy is given depends on the type of the vascular tumor being treated. External radiation is used to treat some vascular tumors. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific tumor cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Angiogenesis inhibitors are a type of targeted therapy. - Angiogenesis inhibitors are drugs that stop cells from dividing and prevent the growth of new blood vessels that tumors need to grow. The targeted therapy drugs thalidomide, sorafenib, pazopanib, sirolimus, and bevacizumab are angiogenesis inhibitors used to treat childhood vascular tumors. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight disease. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against disease. Interferon is a type of immunotherapy used to treat childhood vascular tumors. It interferes with the division of tumor cells and can slow tumor growth. It is used in the treatment of juvenile nasopharyngeal angiofibroma, kaposiform hemangioendothelioma, and epithelioid hemangioendothelioma. Other drug therapy Other drugs used to treat childhood vascular tumors or manage their effects include the following: - Steroid therapy: Steroids are hormones made naturally in the body. They can also be made in a laboratory and used as drugs. Steroid drugs help shrink some vascular tumors. - Non-steroidal anti-inflammatory drugs (NSAIDs): NSAIDs are commonly used to decrease fever, swelling, pain, and redness. Examples of NSAIDs are aspirin, ibuprofen, and naproxen. In the treatment of vascular tumors, NSAIDs can increase the flow of blood through the tumors and decrease the chance that an unwanted blood clot will form. - Antifibrinolytic therapy: These drugs help the blood clot in patients who have Kasabach-Merritt syndrome. Fibrin is the main protein in a blood clot that helps stop bleeding and heal wounds. Some vascular tumors cause fibrin to break down and the patient's blood does not clot normally, causing uncontrolled bleeding. Antifibrinolytics help prevent the breakdown of fibrin. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way disease will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose tumors have not gotten better. There are also clinical trials that test new ways to stop tumors from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the vascular tumor may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the tumor has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",CancerGov,Childhood Vascular Tumors +what research (or clinical trials) is being done for Childhood Vascular Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way disease will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose tumors have not gotten better. There are also clinical trials that test new ways to stop tumors from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Vascular Tumors +What is (are) Childhood Brain Stem Glioma ?,"Key Points + - Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. - Brain tumors may be benign (not cancer) or malignant (cancer). - There are two types of brain stem gliomas in children. - The cause of most childhood brain tumors is unknown. - The signs and symptoms of brain stem glioma are not the same in every child. - Tests that examine the brain are used to detect (find) childhood brain stem glioma. - A biopsy may be done to diagnose certain types of brain stem glioma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. + Gliomas are tumors formed from glial cells. Glial cells in the brain hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. The brain stem is the part of the brain connected to the spinal cord. It is in the lowest part of the brain, just above the back of the neck. The brain stem is the part of the brain that controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. Most childhood brain stem gliomas are pontine gliomas, which form in a part of the brain stem called the pons. Brain tumors are the third most common type of cancer in children. This summary refers to the treatment of primary brain tumors (tumors that begin in the brain). Treatment for metastatic brain tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain, is not discussed in this summary. Brain tumors can occur in both children and adults; however, treatment for children may be different than treatment for adults. See the following PDQ treatment summaries for more information: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment + + + Brain tumors may be benign (not cancer) or malignant (cancer). + Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs and symptoms and need treatment. + + + There are two types of brain stem gliomas in children. + Childhood brain stem glioma is either a diffuse intrinsic pontine glioma (DIPG) or a focal glioma. - DIPG is a high-grade tumor that is fast-growing and spreads all through the brain stem. It is hard to treat and has a poor prognosis (chance of recovery). Children younger than 3 years diagnosed with DIPG may have a better prognosis than children who are 3 years and older. - A focal glioma is slow-growing and is in one area of the brain stem. It is easier to treat than DIPG and has a better prognosis.",CancerGov,Childhood Brain Stem Glioma +What causes Childhood Brain Stem Glioma ?,The cause of most childhood brain tumors is unknown.,CancerGov,Childhood Brain Stem Glioma +Who is at risk for Childhood Brain Stem Glioma? ?,"Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Possible risk factors for brain stem glioma include: - Having certain genetic disorders, such as neurofibromatosis type 1 (NF1).",CancerGov,Childhood Brain Stem Glioma +What are the symptoms of Childhood Brain Stem Glioma ?,The signs and symptoms of brain stem glioma are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain. - The size of the tumor and whether it has spread all through the brain stem. - How fast the tumor grows. - The child's age and development. Some tumors do not cause signs or symptoms. Signs and symptoms may be caused by childhood brain stem gliomas or by other conditions. Check with your child's doctor if your child has any of the following: - Loss of ability to move one side of the face and/or body. - Loss of balance and trouble walking. - Vision and hearing problems. - Morning headache or headache that goes away after vomiting. - Nausea and vomiting. - Unusual sleepiness. - More or less energy than usual. - Changes in behavior. - Trouble learning in school.,CancerGov,Childhood Brain Stem Glioma +How to diagnose Childhood Brain Stem Glioma ?,"Tests that examine the brain are used to detect (find) childhood brain stem glioma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). + - A biopsy may be done to diagnose certain types of brain stem glioma. If the MRI scan looks like the tumor is a DIPG, a biopsy is usually not done and the tumor is not removed. If the MRI scan looks like a focal brain stem glioma, a biopsy may be done. A part of the skull is removed and a needle is used to remove a sample of the brain tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor will remove as much tumor as safely possible during the same surgery. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between brain stem glioma and other brain tumors.",CancerGov,Childhood Brain Stem Glioma +What is the outlook for Childhood Brain Stem Glioma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. - Whether or not the child has a condition called neurofibromatosis type 1. - Whether the tumor has just been diagnosed or has recurred (come back).,CancerGov,Childhood Brain Stem Glioma +What are the stages of Childhood Brain Stem Glioma ?,"Key Points + - The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. + + + The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. + Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment. There is no standard staging system for childhood brain stem glioma. Treatment is based on the following: - Whether the tumor is newly diagnosed or recurrent (has come back after treatment). - The type of tumor (either a diffuse intrinsic pontine glioma or a focal glioma).",CancerGov,Childhood Brain Stem Glioma +what research (or clinical trials) is being done for Childhood Brain Stem Glioma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Brain Stem Glioma +What are the treatments for Childhood Brain Stem Glioma ?,"Key Points + - There are different types of treatment for children with brain stem glioma. - Children with brain stem glioma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain stem gliomas may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Cerebrospinal fluid diversion - Observation - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with brain stem glioma. + Different types of treatment are available for children with brain stem glioma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with brain stem glioma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Neuropathologist. - Radiation oncologist. - Neuro-oncologist. - Neurologist. - Rehabilitation specialist. - Neuroradiologist. - Endocrinologist. - Psychologist. + + + Childhood brain stem gliomas may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Childhood brain stem gliomas may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + These are called late effects. Late effects may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Six types of standard treatment are used: + Surgery Surgery may be used to diagnose and treat childhood brain stem glioma as discussed in the General Information section of this summary. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. External radiation therapy is used to treat DIPG. External and/or internal radiation therapy may be used to treat focal brain stem gliomas. Several months after radiation therapy to the brain, imaging tests may show changes to the brain tissue. These changes may be caused by the radiation therapy or may mean the tumor is growing. It is important to be sure the tumor is growing before any more treatment is given. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of the cancer being treated. Because radiation therapy to the brain can affect growth and brain development in young children, clinical trials are studying ways of using chemotherapy to delay or reduce the need for radiation therapy. Cerebrospinal fluid diversion Cerebrospinal fluid diversion is a method used to drain fluid that has built up in the brain. A shunt (long, thin tube) is placed in a ventricle (fluid-filled space) of the brain and threaded under the skin to another part of the body, usually the abdomen. The shunt carries extra fluid away from the brain so it may be absorbed elsewhere in the body. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Some focal brain stem gliomas that cannot be removed by surgery may be treated with BRAF kinase inhibitor therapy. BRAF kinase inhibitors block the BRAF protein. BRAF proteins help control cell growth and may be mutated (changed) in some types of brain stem glioma. Blocking mutated BRAF kinase proteins may help keep cancer cells from growing. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. If the results of imaging tests done after treatment show a mass in the brain, a biopsy may be done to find out if it is made up of dead tumor cells or if new cancer cells are growing. In children who are expected to live a long time, regular MRIs may be done to see if the cancer has come back. + + + Treatment Options for Childhood Brain Stem Glioma + + + Newly Diagnosed Childhood Brain Stem Glioma + Newly diagnosed childhood brain stem glioma is a tumor for which no treatment has been given. The child may have received drugs or treatment to relieve signs or symptoms caused by the tumor. Standard treatment of diffuse intrinsic pontine glioma (DIPG) may include the following: - Radiation therapy. - Chemotherapy (in infants). Standard treatment of focal glioma may include the following: - Surgery that may be followed by chemotherapy and/or radiation therapy. - Observation for small tumors that grow slowly. Cerebrospinal fluid diversion may be done when there is extra fluid in the brain. - Internal radiation therapy with radioactive seeds, with or without chemotherapy, when the tumor cannot be removed by surgery. - Targeted therapy with a BRAF kinase inhibitor, for certain tumors that cannot be removed by surgery. Treatment of brain stem glioma in children with neurofibromatosis type 1 may be observation. The tumors are slow-growing in these children and may not need specific treatment for years. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood brain stem glioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Progressive or Recurrent Childhood Brain Stem Glioma + When cancer does not get better with treatment or comes back, palliative care is an important part of the child's treatment plan. It includes physical, psychological, social, and spiritual support for the child and family. The goal of palliative care is to help control symptoms and give the child the best quality of life possible. Parents may not be sure about whether to continue treatment or what kind of treatment is best for their child. The healthcare team can give parents information to help them make these decisions. There is no standard treatment for progressive or recurrent diffuse intrinsic pontine glioma. The child may be treated in a clinical trial of a new treatment. Treatment of recurrent focal childhood brain stem glioma may include the following: - A second surgery to remove the tumor. - External radiation therapy. - Chemotherapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood brain stem glioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Brain Stem Glioma +What is (are) Colorectal Cancer ?,"Key Points + - Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. - Different factors increase or decrease the risk of getting colorectal cancer. + + + Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. + The colon and rectum are parts of the body's digestive system. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The digestive system is made up of the mouth, throat, esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are 6-8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). Cancer that begins in the colon is called colon cancer, and cancer that begins in the rectum is called rectal cancer. Cancer that begins in either of these organs may also be called colorectal cancer. See the following PDQ summaries for more information about colorectal cancer: - Colorectal Cancer Prevention - Colon Cancer Treatment - Rectal Cancer Treatment - Genetics of Colorectal Cancer + + + Colorectal cancer is the second leading cause of death from cancer in the United States. + The number of new colorectal cancer cases and the number of deaths from colorectal cancer are decreasing a little bit each year. But in adults younger than 50 years, there has been a small increase in the number of new cases each year since 1998. Colorectal cancer is found more often in men than in women.",CancerGov,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,"Different factors increase or decrease the risk of getting colorectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for colorectal cancer, see the PDQ summary on Colorectal Cancer Prevention.",CancerGov,Colorectal Cancer +What is (are) Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"Key Points + - Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. - Misuse of certain pain medicines can affect the risk of transitional cell cancer of the renal pelvis and ureter. - Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter. + The renal pelvis is the top part of the ureter. The ureter is a long tube that connects the kidney to the bladder. There are two kidneys, one on each side of the backbone, above the waist. The kidneys of an adult are about 5 inches long and 3 inches wide and are shaped like a kidney bean. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine collects in the middle of each kidney in the renal pelvis. Urine passes from the renal pelvis through the ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. The renal pelvis and ureters are lined with transitional cells. These cells can change shape and stretch without breaking apart. Transitional cell cancer starts in these cells. Transitional cell cancer can form in the renal pelvis or the ureter or both. Renal cell cancer is a more common type of kidney cancer. See the PDQ summary about Renal Cell Cancer Treatment for more information.",CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +What are the symptoms of Transitional Cell Cancer of the Renal Pelvis and Ureter ?,Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. These and other signs and symptoms may be caused by transitional cell cancer of the renal pelvis and ureter or by other conditions. There may be no signs or symptoms in the early stages. Signs and symptoms may appear as the tumor grows. Check with your doctor if you have any of the following: - Blood in the urine. - A pain in the back that doesn't go away. - Extreme tiredness. - Weight loss with no known reason. - Painful or frequent urination.,CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +How to diagnose Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, and bacteria. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. - Urine cytology : A laboratory test in which a sample of urine is checked under a microscope for abnormal cells. Cancer in the kidney, bladder, or ureter may shed cancer cells into the urine. - Intravenous pyelogram (IVP): A series of x-rays of the kidneys, ureters, and bladder to check for cancer. A contrast dye is injected into a vein. As the contrast dye moves through the kidneys, ureters, and bladder, x-rays are taken to see if there are any blockages. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ultrasound : A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An ultrasound of the abdomen may be done to help diagnose cancer of the renal pelvis and ureter. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the pelvis. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. This may be done during a ureteroscopy or surgery.",CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +What is the outlook for Transitional Cell Cancer of the Renal Pelvis and Ureter ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the stage and grade of the tumor. The treatment options depend on the following: - The stage and grade of the tumor. - Where the tumor is. - Whether the patient's other kidney is healthy. - Whether the cancer has recurred. Most transitional cell cancer of the renal pelvis and ureter can be cured if found early.,CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +What are the stages of Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"Key Points + - After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: - Stage 0 (Papillary Carcinoma and Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: - Localized - Regional - Metastatic + + + After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. + The process used to find out if cancer has spread within the renal pelvis and ureter or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if transitional cell cancer of the ureter spreads to the lung, the cancer cells in the lung are actually ureter cancer cells. The disease is metastatic cancer of the ureter, not lung cancer. + + + The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: + Stage 0 (Papillary Carcinoma and Carcinoma in Situ) In stage 0, abnormal cells are found in tissue lining the inside of the renal pelvis or ureter. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is divided into stage 0a and stage 0is, depending on the type of tumor: - Stage 0a may look like tiny mushrooms growing from the tissue lining the inside of the renal pelvis or ureter. Stage 0a is also called noninvasive papillary carcinoma. - Stage 0is is a flat tumor on the tissue lining the inside of the renal pelvis or ureter. Stage 0is is also called carcinoma in situ. Stage I In stage I, cancer has formed and spread through the lining of the renal pelvis and/or ureter, into the layer of connective tissue. Stage II In stage II, cancer has spread through the layer of connective tissue to the muscle layer of the renal pelvis and/or ureter. Stage III In stage III, cancer has spread: - From the renal pelvis to tissue or fat in the kidney; or - From the ureter to fat that surrounds the ureter. Stage IV In stage IV, cancer has spread to at least one of the following: - A nearby organ. - The layer of fat surrounding the kidney. - One or more lymph nodes. - Distant parts of the body, such as the lung, liver, or bone. + + + Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: + Localized The cancer is found only in the kidney. Regional The cancer has spread to tissues around the kidney and to nearby lymph nodes and blood vessels in the pelvis. Metastatic The cancer has spread to other parts of the body.",CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +What are the treatments for Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"Key Points + - There are different types of treatment for patients with transitional cell cancer of the renal pelvis and ureter. - One type of standard treatment is used: - Surgery - New types of treatment are being tested in clinical trials. - Fulguration - Segmental resection of the renal pelvis - Laser surgery - Regional chemotherapy and regional biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with transitional cell cancer of the renal pelvis and ureter. + Different types of treatments are available for patients with transitional cell cancer of the renal pelvis and ureter. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + One type of standard treatment is used: + Surgery One of the following surgical procedures may be used to treat transitional cell cancer of the renal pelvis and ureter: - Nephroureterectomy: Surgery to remove the entire kidney, the ureter, and the bladder cuff (tissue that connects the ureter to the bladder). - Segmental resection of the ureter: A surgical procedure to remove the part of the ureter that contains cancer and some of the healthy tissue around it. The ends of the ureter are then reattached. This treatment is used when the cancer is superficial and in the lower third of the ureter only, near the bladder. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Fulguration Fulguration is a surgical procedure that destroys tissue using an electric current. A tool with a small wire loop on the end is used to remove the cancer or to burn away the tumor with electricity. Segmental resection of the renal pelvis This is a surgical procedure to remove localized cancer from the renal pelvis without removing the entire kidney. Segmental resection may be done to save kidney function when the other kidney is damaged or has already been removed. Laser surgery A laser beam (narrow beam of intense light) is used as a knife to remove the cancer. A laser beam can also be used to kill the cancer cells. This procedure may also be called or laser fulguration. Regional chemotherapy and regional biologic therapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. Biologic therapy is a treatment that uses the patient's immune system to fight cancer; substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Regional treatment means the anticancer drugs or biologic substances are placed directly into an organ or a body cavity such as the abdomen, so the drugs will affect cancer cells in that area. Clinical trials are studying chemotherapy or biologic therapy using drugs placed directly into the renal pelvis or the ureter. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Transitional Cell Cancer of the Renal Pelvis and Ureter + + + Localized Transitional Cell Cancer of the Renal Pelvis and Ureter + Treatment of localized transitional cell cancer of the renal pelvis and ureter may include the following: - Surgery (nephroureterectomy or segmental resection of ureter). - A clinical trial of fulguration. - A clinical trial of laser surgery. - A clinical trial of segmental resection of the renal pelvis. - A clinical trial of regional chemotherapy. - A clinical trial of regional biologic therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized transitional cell cancer of the renal pelvis and ureter. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Regional Transitional Cell Cancer of the Renal Pelvis and Ureter + Treatment of regional transitional cell cancer of the renal pelvis and ureter is usually done in a clinical trial. Check the list of NCI-supported cancer clinical trials that are now accepting patients with regional transitional cell cancer of the renal pelvis and ureter. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Metastatic Transitional Cell Cancer of the Renal Pelvis and Ureter + Treatment of metastatic transitional cell cancer of the renal pelvis and ureter is usually done in a clinical trial, which may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic transitional cell cancer of the renal pelvis and ureter. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Transitional Cell Cancer of the Renal Pelvis and Ureter + Treatment of recurrent transitional cell cancer of the renal pelvis and ureter is usually done in a clinical trial, which may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent transitional cell cancer of the renal pelvis and ureter. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Fulguration Fulguration is a surgical procedure that destroys tissue using an electric current. A tool with a small wire loop on the end is used to remove the cancer or to burn away the tumor with electricity. Segmental resection of the renal pelvis This is a surgical procedure to remove localized cancer from the renal pelvis without removing the entire kidney. Segmental resection may be done to save kidney function when the other kidney is damaged or has already been removed. Laser surgery A laser beam (narrow beam of intense light) is used as a knife to remove the cancer. A laser beam can also be used to kill the cancer cells. This procedure may also be called or laser fulguration. Regional chemotherapy and regional biologic therapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. Biologic therapy is a treatment that uses the patient's immune system to fight cancer; substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Regional treatment means the anticancer drugs or biologic substances are placed directly into an organ or a body cavity such as the abdomen, so the drugs will affect cancer cells in that area. Clinical trials are studying chemotherapy or biologic therapy using drugs placed directly into the renal pelvis or the ureter. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Transitional Cell Cancer of the Renal Pelvis and Ureter +What is (are) Gestational Trophoblastic Disease ?,"Key Points + - Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. - Hydatidiform mole (HM) is the most common type of GTD. - Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant. - Invasive moles - Choriocarcinomas - Placental-site trophoblastic tumors - Epithelioid trophoblastic tumors - Age and a previous molar pregnancy affect the risk of GTD. - Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal. - Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. + In gestational trophoblastic disease (GTD), a tumor develops inside the uterus from tissue that forms after conception (the joining of sperm and egg). This tissue is made of trophoblast cells and normally surrounds the fertilized egg in the uterus. Trophoblast cells help connect the fertilized egg to the wall of the uterus and form part of the placenta (the organ that passes nutrients from the mother to the fetus). Sometimes there is a problem with the fertilized egg and trophoblast cells. Instead of a healthy fetus developing, a tumor forms. Until there are signs or symptoms of the tumor, the pregnancy will seem like a normal pregnancy. Most GTD is benign (not cancer) and does not spread, but some types become malignant (cancer) and spread to nearby tissues or distant parts of the body. Gestational trophoblastic disease (GTD) is a general term that includes different types of disease: - Hydatidiform Moles (HM) - Complete HM. - Partial HM. - Gestational Trophoblastic Neoplasia (GTN) - Invasive moles. - Choriocarcinomas. - Placental-site trophoblastic tumors (PSTT; very rare). - Epithelioid trophoblastic tumors (ETT; even more rare). + + + Hydatidiform mole (HM) is the most common type of GTD. + HMs are slow-growing tumors that look like sacs of fluid. An HM is also called a molar pregnancy. The cause of hydatidiform moles is not known. HMs may be complete or partial: - A complete HM forms when sperm fertilizes an egg that does not contain the mothers DNA. The egg has DNA from the father and the cells that were meant to become the placenta are abnormal. - A partial HM forms when sperm fertilizes a normal egg and there are two sets of DNA from the father in the fertilized egg. Only part of the fetus forms and the cells that were meant to become the placenta are abnormal. Most hydatidiform moles are benign, but they sometimes become cancer. Having one or more of the following risk factors increases the risk that a hydatidiform mole will become cancer: - A pregnancy before 20 or after 35 years of age. - A very high level of beta human chorionic gonadotropin (-hCG), a hormone made by the body during pregnancy. - A large tumor in the uterus. - An ovarian cyst larger than 6 centimeters. - High blood pressure during pregnancy. - An overactive thyroid gland (extra thyroid hormone is made). - Severe nausea and vomiting during pregnancy. - Trophoblastic cells in the blood, which may block small blood vessels. - Serious blood clotting problems caused by the HM. + + + Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant. + Gestational trophoblastic neoplasia (GTN) includes the following: Invasive moles Invasive moles are made up of trophoblast cells that grow into the muscle layer of the uterus. Invasive moles are more likely to grow and spread than a hydatidiform mole. Rarely, a complete or partial HM may become an invasive mole. Sometimes an invasive mole will disappear without treatment. Choriocarcinomas A choriocarcinoma is a malignant tumor that forms from trophoblast cells and spreads to the muscle layer of the uterus and nearby blood vessels. It may also spread to other parts of the body, such as the brain, lungs, liver, kidney, spleen, intestines, pelvis, or vagina. A choriocarcinoma is more likely to form in women who have had any of the following: - Molar pregnancy, especially with a complete hydatidiform mole. - Normal pregnancy. - Tubal pregnancy (the fertilized egg implants in the fallopian tube rather than the uterus). - Miscarriage. Placental-site trophoblastic tumors A placental-site trophoblastic tumor (PSTT) is a rare type of gestational trophoblastic neoplasia that forms where the placenta attaches to the uterus. The tumor forms from trophoblast cells and spreads into the muscle of the uterus and into blood vessels. It may also spread to the lungs, pelvis, or lymph nodes. A PSTT grows very slowly and signs or symptoms may appear months or years after a normal pregnancy. Epithelioid trophoblastic tumors An epithelioid trophoblastic tumor (ETT) is a very rare type of gestational trophoblastic neoplasia that may be benign or malignant. When the tumor is malignant, it may spread to the lungs.",CancerGov,Gestational Trophoblastic Disease +Who is at risk for Gestational Trophoblastic Disease? ?,Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GTD include the following: - Being pregnant when you are younger than 20 or older than 35 years of age. - Having a personal history of hydatidiform mole.,CancerGov,Gestational Trophoblastic Disease +What are the symptoms of Gestational Trophoblastic Disease ?,"Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal. These and other signs and symptoms may be caused by gestational trophoblastic disease or by other conditions. Check with your doctor if you have any of the following: - Vaginal bleeding not related to menstruation. - A uterus that is larger than expected during pregnancy. - Pain or pressure in the pelvis. - Severe nausea and vomiting during pregnancy. - High blood pressure with headache and swelling of feet and hands early in the pregnancy. - Vaginal bleeding that continues for longer than normal after delivery. - Fatigue, shortness of breath, dizziness, and a fast or irregular heartbeat caused by anemia. GTD sometimes causes an overactive thyroid. Signs and symptoms of an overactive thyroid include the following: - Fast or irregular heartbeat. - Shakiness. - Sweating. - Frequent bowel movements. - Trouble sleeping. - Feeling anxious or irritable. - Weight loss.",CancerGov,Gestational Trophoblastic Disease +How to diagnose Gestational Trophoblastic Disease ?,"Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Ultrasound exam of the pelvis: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs in the pelvis and make echoes. The echoes form a picture of body tissues called a sonogram. Sometimes a transvaginal ultrasound (TVUS) will be done. For TVUS, an ultrasound transducer (probe) is inserted into the vagina to make the sonogram. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. Blood is also tested to check the liver, kidney, and bone marrow. - Serum tumor marker test : A procedure in which a sample of blood is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. For GTD, the blood is checked for the level of beta human chorionic gonadotropin (-hCG), a hormone that is made by the body during pregnancy. -hCG in the blood of a woman who is not pregnant may be a sign of GTD. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, bacteria, and the level of -hCG.",CancerGov,Gestational Trophoblastic Disease +What is the outlook for Gestational Trophoblastic Disease ?,"Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following: - The type of GTD. - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body. - The number of tumors and where they are in the body. - The size of the largest tumor. - The level of -hCG in the blood. - How soon the tumor was diagnosed after the pregnancy began. - Whether GTD occurred after a molar pregnancy, miscarriage, or normal pregnancy. - Previous treatment for gestational trophoblastic neoplasia. Treatment options also depend on whether the woman wishes to become pregnant in the future.",CancerGov,Gestational Trophoblastic Disease +What are the stages of Gestational Trophoblastic Disease ?,"Key Points + - After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no staging system for hydatidiform moles. - The following stages are used for GTN: - Stage I - Stage II - Stage III - Stage IV - The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. + + + After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. + The process used to find out the extent or spread of cancer is called staging, The information gathered from the staging process helps determine the stage of disease. For GTN, stage is one of the factors used to plan treatment. The following tests and procedures may be done to help find out the stage of the disease: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body onto film, making pictures of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if choriocarcinoma spreads to the lung, the cancer cells in the lung are actually choriocarcinoma cells. The disease is metastatic choriocarcinoma, not lung cancer. + + + There is no staging system for hydatidiform moles. + Hydatidiform moles (HM) are found in the uterus only and do not spread to other parts of the body. + + + The following stages are used for GTN: + Stage I In stage I, the tumor is in the uterus only. Stage II In stage II, cancer has spread outside of the uterus to the ovary, fallopian tube, vagina, and/or the ligaments that support the uterus. Stage III In stage III, cancer has spread to the lung. Stage IV In stage IV, cancer has spread to distant parts of the body other than the lungs. + + + The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. + Invasive moles and choriocarcinomas are treated based on risk groups. The stage of the invasive mole or choriocarcinoma is one factor used to determine risk group. Other factors include the following: - The age of the patient when the diagnosis is made. - Whether the GTN occurred after a molar pregnancy, miscarriage, or normal pregnancy. - How soon the tumor was diagnosed after the pregnancy began. - The level of beta human chorionic gonadotropin (-hCG) in the blood. - The size of the largest tumor. - Where the tumor has spread to and the number of tumors in the body. - How many chemotherapy drugs the tumor has been treated with (for recurrent or resistant tumors). There are two risk groups for invasive moles and choriocarcinomas: low risk and high risk. Patients with low-risk disease usually receive less aggressive treatment than patients with high-risk disease. Placental-site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT) treatments depend on the stage of disease.",CancerGov,Gestational Trophoblastic Disease +What are the treatments for Gestational Trophoblastic Disease ?,"Key Points + - There are different types of treatment for patients with gestational trophoblastic disease. - Three types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with gestational trophoblastic disease. + Different types of treatment are available for patients with gestational trophoblastic disease. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Before starting treatment, patients may want to think about taking part in a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Three types of standard treatment are used: + Surgery The doctor may remove the cancer using one of the following operations: - Dilatation and curettage (D&C) with suction evacuation: A surgical procedure to remove abnormal tissue and parts of the inner lining of the uterus. The cervix is dilated and the material inside the uterus is removed with a small vacuum-like device. The walls of the uterus are then gently scraped with a curette (spoon-shaped instrument) to remove any material that may remain in the uterus. This procedure may be used for molar pregnancies. - Hysterectomy: Surgery to remove the uterus, and sometimes the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated, or whether the tumor is low-risk or high-risk. Combination chemotherapy is treatment using more than one anticancer drug. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. See Drugs Approved for Gestational Trophoblastic Disease for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of gestational trophoblastic disease being treated. External radiation therapy is used to treat gestational trophoblastic disease. + + + New types of treatment are being tested in clinical trials. + Information about ongoing clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Blood levels of beta human chorionic gonadotropin (-hCG) will be checked for up to 6 months after treatment has ended. This is because a -hCG level that is higher than normal may mean that the tumor has not responded to treatment or it has become cancer. + + + Treatment Options for Gestational Trophoblastic Disease + + + Hydatidiform Moles + Treatment of a hydatidiform mole may include the following: - Surgery (Dilatation and curettage with suction evacuation) to remove the tumor. After surgery, beta human chorionic gonadotropin (-hCG) blood tests are done every week until the -hCG level returns to normal. Patients also have follow-up doctor visits monthly for up to 6 months. If the level of -hCG does not return to normal or increases, it may mean the hydatidiform mole was not completely removed and it has become cancer. Pregnancy causes -hCG levels to increase, so your doctor will ask you not to become pregnant until follow-up is finished. For disease that remains after surgery, treatment is usually chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with hydatidiform mole. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Gestational Trophoblastic Neoplasia + Low-risk Gestational Trophoblastic Neoplasia Treatment of low-risk gestational trophoblastic neoplasia (GTN) (invasive mole or choriocarcinoma) may include the following: - Chemotherapy with one or more anticancer drugs. Treatment is given until the beta human chorionic gonadotropin (-hCG) level is normal for at least 3 weeks after treatment ends. If the level of -hCG in the blood does not return to normal or the tumor spreads to distant parts of the body, chemotherapy regimens used for high-risk metastatic GTN are given. Check the list of NCI-supported cancer clinical trials that are now accepting patients with low risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. High-risk Metastatic Gestational Trophoblastic Neoplasia Treatment of high-risk metastatic gestational trophoblastic neoplasia (invasive mole or choriocarcinoma) may include the following: - Combination chemotherapy. - Intrathecal chemotherapy and radiation therapy to the brain (for cancer that has spread to the lung, to keep it from spreading to the brain). - High-dose chemotherapy or intrathecal chemotherapy and/or radiation therapy to the brain (for cancer that has spread to the brain). Check the list of NCI-supported cancer clinical trials that are now accepting patients with high risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Placental-Site Gestational Trophoblastic Tumors and Epithelioid Trophoblastic Tumors Treatment of stage I placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following: - Surgery to remove the uterus. Treatment of stage II placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following: - Surgery to remove the tumor, which may be followed by combination chemotherapy. Treatment of stage III and IV placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include following: - Combination chemotherapy. - Surgery to remove cancer that has spread to other places, such as the lung or abdomen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with placental-site gestational trophoblastic tumor and epithelioid trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent or Resistant Gestational Trophoblastic Neoplasia + Treatment of recurrent or resistant gestational trophoblastic tumor may include the following: - Chemotherapy with one or more anticancer drugs for tumors previously treated with surgery. - Combination chemotherapy for tumors previously treated with chemotherapy. - Surgery for tumors that do not respond to chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Gestational Trophoblastic Disease +what research (or clinical trials) is being done for Gestational Trophoblastic Disease ?,"New types of treatment are being tested in clinical trials. + Information about ongoing clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Gestational Trophoblastic Disease +What is (are) Chronic Myelogenous Leukemia ?,"Chronic myelogenous leukemia is a disease in which too many white blood cells are made in the bone marrow. See the PDQ summary on Chronic Myelogenous Leukemia Treatment for information on diagnosis, staging, and treatment.",CancerGov,Chronic Myelogenous Leukemia +What are the treatments for Chronic Myelogenous Leukemia ?,See the PDQ summary about Chronic Myelogenous Leukemia Treatment for information.,CancerGov,Chronic Myelogenous Leukemia +What is (are) Lung Cancer ?,"Key Points + - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in the United States. - Different factors increase or decrease the risk of lung cancer. + + + Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. + The lungs are a pair of cone-shaped breathing organs inside the chest. The lungs bring oxygen into the body when breathing in and send carbon dioxide out of the body when breathing out. Each lung has sections called lobes. The left lung has two lobes. The right lung, which is slightly larger, has three. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes involved in lung cancer. Small tubes called bronchioles and tiny air sacs called alveoli make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Lung Cancer Prevention - Non-Small Cell Lung Cancer Treatment - Small Cell Lung Cancer Treatment + + + Lung cancer is the leading cause of cancer death in the United States. + Lung cancer is the third most common type of non-skin cancer in the United States. Lung cancer is the leading cause of cancer death in men and in women.",CancerGov,Lung Cancer +Who is at risk for Lung Cancer? ?,"Different factors increase or decrease the risk of lung cancer. + Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for lung cancer, see the PDQ summary on Lung Cancer Prevention. + + + Key Points + - Screening tests have risks. - The risks of lung cancer screening tests include the following: - Finding lung cancer may not improve health or help you live longer. - False-negative test results can occur. - False-positive test results can occur. - Chest x-rays and low-dose spiral CT scans expose the chest to radiation. - Talk to your doctor about your risk for lung cancer and your need for screening tests. + + + Screening tests have risks. + Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to discuss the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer. + + + The risks of lung cancer screening tests include the following: + Finding lung cancer may not improve health or help you live longer. Screening may not improve your health or help you live longer if you have lung cancer that has already spread to other places in your body. When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. It is not known if treatment of these cancers would help you live longer than if no treatment were given, and treatments for cancer may have serious side effects. Harms of treatment may happen more often in people who have medical problems caused by heavy or long-term smoking. False-negative test results can occur. Screening test results may appear to be normal even though lung cancer is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as biopsy), which also have risks. A biopsy to diagnose lung cancer can cause part of the lung to collapse. Sometimes surgery is needed to reinflate the lung. Harms of diagnostic tests may happen more often in patients who have medical problems caused by heavy or long-term smoking. Chest x-rays and low-dose spiral CT scans expose the chest to radiation. Radiation exposure from chest x-rays and low-dose spiral CT scans may increase the risk of cancer. Younger people and people at low risk for lung cancer are more likely to develop lung cancer caused by radiation exposure. . Talk to your doctor about your risk for lung cancer and your need for screening tests. Talk to your doctor or other health care provider about your risk for lung cancer, whether a screening test is right for you, and about the benefits and harms of the screening test. You should take part in the decision about whether a screening test is right for you. (See the PDQ summary on Cancer Screening Overview for more information.)",CancerGov,Lung Cancer +"What is (are) Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer are diseases in which malignant (cancer) cells form in the tissue covering the ovary or lining the fallopian tube or peritoneum. - Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer form in the same type of tissue and are treated the same way. - Women who have a family history of ovarian cancer are at an increased risk of ovarian cancer. - Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). - Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. - Signs and symptoms of ovarian, fallopian tube, or peritoneal cancer include pain or swelling in the abdomen. - Tests that examine the ovaries and pelvic area are used to detect (find) and diagnose ovarian, fallopian tube, and peritoneal cancer. - Certain factors affect treatment options and prognosis (chance of recovery). + + + Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer are diseases in which malignant (cancer) cells form in the tissue covering the ovary or lining the fallopian tube or peritoneum. + The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones (chemicals that control the way certain cells or organs work). The fallopian tubes are a pair of long, slender tubes, one on each side of the uterus. Eggs pass from the ovaries, through the fallopian tubes, to the uterus. Cancer sometimes begins at the end of the fallopian tube near the ovary and spreads to the ovary. The peritoneum is the tissue that lines the abdominal wall and covers organs in the abdomen. Primary peritoneal cancer is cancer that forms in the peritoneum and has not spread there from another part of the body. Cancer sometimes begins in the peritoneum and spreads to the ovary. Ovarian epithelial cancer is one type of cancer that affects the ovary. See the following PDQ treatment summaries for information about other types of ovarian tumors: - Ovarian Germ Cell Tumors - Ovarian Low Malignant Potential Tumors - Unusual Cancers of Childhood Treatment (ovarian cancer in children) + + + Ovarian epithelial cancer, fallopian tube cancer, and primary peritoneal cancer form in the same type of tissue and are treated the same way.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"Who is at risk for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer? ?","Women who have a family history of ovarian cancer are at an increased risk of ovarian cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Women who have one first-degree relative (mother, daughter, or sister) with a history of ovarian cancer have an increased risk of ovarian cancer. This risk is higher in women who have one first-degree relative and one second-degree relative (grandmother or aunt) with a history of ovarian cancer. This risk is even higher in women who have two or more first-degree relatives with a history of ovarian cancer.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"Is Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer inherited ?","Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary ovarian cancer makes up about 20% of all cases of ovarian cancer. There are three hereditary patterns: ovarian cancer alone, ovarian and breast cancers, and ovarian and colon cancers. Fallopian tube cancer and peritoneal cancer may also be caused by certain inherited gene mutations. There are tests that can detect gene mutations. These genetic tests are sometimes done for members of families with a high risk of cancer. See the following PDQ summaries for more information: - Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention - Genetics of Breast and Gynecologic Cancers (for health professionals)",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"How to prevent Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. Some women who have an increased risk of ovarian cancer may choose to have a risk-reducing oophorectomy (the removal of healthy ovaries so that cancer cannot grow in them). In high-risk women, this procedure has been shown to greatly decrease the risk of ovarian cancer. (See the PDQ summary on Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention for more information.)",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"What are the symptoms of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Signs and symptoms of ovarian, fallopian tube, or peritoneal cancer include pain or swelling in the abdomen. Ovarian, fallopian tube, or peritoneal cancer may not cause early signs or symptoms. When signs or symptoms do appear, the cancer is often advanced. Signs and symptoms may include the following: - Pain, swelling, or a feeling of pressure in the abdomen or pelvis. - Vaginal bleeding that is heavy or irregular, especially after menopause. - Vaginal discharge that is clear, white, or colored with blood. - A lump in the pelvic area. - Gastrointestinal problems, such as gas, bloating, or constipation. These signs and symptoms also may be caused by other conditions and not by ovarian, fallopian tube, or peritoneal cancer. If the signs or symptoms get worse or do not go away on their own, check with your doctor so that any problem can be diagnosed and treated as early as possible.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"How to diagnose Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Tests that examine the ovaries and pelvic area are used to detect (find) and diagnose ovarian, fallopian tube, and peritoneal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - CA 125 assay : A test that measures the level of CA 125 in the blood. CA 125 is a substance released by cells into the bloodstream. An increased CA 125 level can be a sign of cancer or another condition such as endometriosis. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs in the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. Some patients may have a transvaginal ultrasound. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A very small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue is usually removed during surgery to remove the tumor.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?",Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following: - The type of ovarian cancer and how much cancer there is. - The stage and grade of the cancer. - Whether the patient has extra fluid in the abdomen that causes swelling. - Whether all of the tumor can be removed by surgery. - Whether there are changes in the BRCA1 or BRCA2 genes. - The patients age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"What are the stages of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - After ovarian, fallopian tube, or peritoneal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the ovaries or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for ovarian epithelial, fallopian tube, and primary peritoneal cancer: - Stage I - Stage II - Stage III - Stage IV - Ovarian epithelial, fallopian tube, and primary peritoneal cancers are grouped for treatment as early or advanced cancer. + + + After ovarian, fallopian tube, or peritoneal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the ovaries or to other parts of the body. + The process used to find out whether cancer has spread within the organ or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose cancer are often also used to stage the disease. (See the General Information section.) + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if ovarian epithelial cancer spreads to the lung, the cancer cells in the lung are actually ovarian epithelial cancer cells. The disease is metastatic ovarian epithelial cancer, not lung cancer. + + + The following stages are used for ovarian epithelial, fallopian tube, and primary peritoneal cancer: + Stage I In stage I, cancer is found in one or both ovaries or fallopian tubes. Stage I is divided into stage IA, stage IB, and stage IC. - Stage IA: Cancer is found inside a single ovary or fallopian tube. - Stage IB: Cancer is found inside both ovaries or fallopian tubes. - Stage IC: Cancer is found inside one or both ovaries or fallopian tubes and one of the following is true: - cancer is also found on the outside surface of one or both ovaries or fallopian tubes; or - the capsule (outer covering) of the ovary ruptured (broke open) before or during surgery; or - cancer cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage II In stage II, cancer is found in one or both ovaries or fallopian tubes and has spread into other areas of the pelvis, or primary peritoneal cancer is found within the pelvis. Stage II ovarian epithelial and fallopian tube cancers are divided into stage IIA and stage IIB. - Stage IIA: Cancer has spread from where it first formed to the uterus and/or the fallopian tubes and/or the ovaries. - Stage IIB: Cancer has spread from the ovary or fallopian tube to organs in the peritoneal cavity (the space that contains the abdominal organs). Stage III In stage III, cancer is found in one or both ovaries or fallopian tubes, or is primary peritoneal cancer, and has spread outside the pelvis to other parts of the abdomen and/or to nearby lymph nodes. Stage III is divided into stage IIIA, stage IIIB, and stage IIIC. - In stage IIIA, one of the following is true: - Cancer has spread to lymph nodes in the area outside or behind the peritoneum only; or - Cancer cells that can be seen only with a microscope have spread to the surface of the peritoneum outside the pelvis. Cancer may have spread to nearby lymph nodes. - Stage IIIB: Cancer has spread to the peritoneum outside the pelvis and the cancer in the peritoneum is 2 centimeters or smaller. Cancer may have spread to lymph nodes behind the peritoneum. - Stage IIIC: Cancer has spread to the peritoneum outside the pelvis and the cancer in the peritoneum is larger than 2 centimeters. Cancer may have spread to lymph nodes behind the peritoneum or to the surface of the liver or spleen. Stage IV In stage IV, cancer has spread beyond the abdomen to other parts of the body. Stage IV is divided into stage IVA and stage IVB. - Stage IVA: Cancer cells are found in extra fluid that builds up around the lungs. - Stage IVB: Cancer has spread to organs and tissues outside the abdomen, including lymph nodes in the groin. + + + Ovarian epithelial, fallopian tube, and primary peritoneal cancers are grouped for treatment as early or advanced cancer. + Stage I ovarian epithelial and fallopian tube cancers are treated as early cancers. Stages II, III, and IV ovarian epithelial, fallopian tube, and primary peritoneal cancers are treated as advanced cancers.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"What are the treatments for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - There are different types of treatment for patients with ovarian epithelial cancer. - Three kinds of standard treatment are used. - Surgery - Chemotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Radiation therapy - Immunotherapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with ovarian epithelial cancer. + Different types of treatment are available for patients with ovarian epithelial cancer. Some treatments are standard, and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the treatment currently used as standard treatment, the new treatment may become the standard treatment. Patients with any stage of ovarian cancer may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three kinds of standard treatment are used. + Surgery Most patients have surgery to remove as much of the tumor as possible. Different types of surgery may include: - Hysterectomy: Surgery to remove the uterus and, sometimes, the cervix. When only the uterus is removed, it is called a partial hysterectomy. When both the uterus and the cervix are removed, it is called a total hysterectomy. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. - Unilateral salpingo-oophorectomy: A surgical procedure to remove one ovary and one fallopian tube. - Bilateral salpingo-oophorectomy: A surgical procedure to remove both ovaries and both fallopian tubes. - Omentectomy: A surgical procedure to remove the omentum (tissue in the peritoneum that contains blood vessels, nerves, lymph vessels, and lymph nodes). - Lymph node biopsy: The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). A type of regional chemotherapy used to treat ovarian cancer is intraperitoneal (IP) chemotherapy. In IP chemotherapy, the anticancer drugs are carried directly into the peritoneal cavity (the space that contains the abdominal organs) through a thin tube. Treatment with more than one anticancer drug is called combination chemotherapy. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Ovarian, Fallopian Tube, or Primary Peritoneal Cancer for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is a monoclonal antibody that may be used with chemotherapy to treat ovarian epithelial cancer, fallopian tube cancer, or primary peritoneal cancer that has recurred (come back). Poly (ADP-ribose) polymerase inhibitors (PARP inhibitors) are targeted therapy drugs that block DNA repair and may cause cancer cells to die. Olaparib and niraparib are PARP inhibitors that may be used to treat advanced ovarian cancer. See Drugs Approved for Ovarian, Fallopian Tube, or Primary Peritoneal Cancer for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. Some women receive a treatment called intraperitoneal radiation therapy, in which radioactive liquid is put directly in the abdomen through a catheter. Intraperitoneal radiation therapy is being studied to treat advanced ovarian cancer. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat advanced ovarian cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Early Ovarian Epithelial and Fallopian Tube Cancer + Treatment of early ovarian epithelial cancer or fallopian tube cancer may include the following: - Hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. Lymph nodes and other tissues in the pelvis and abdomen are removed and checked under a microscope for cancer cells. Chemotherapy may be given after surgery. - Unilateral salpingo-oophorectomy may be done in certain women who wish to have children. Chemotherapy may be given after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I ovarian epithelial cancer and fallopian tube cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Advanced Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer + Treatment of advanced ovarian epithelial cancer, fallopian tube cancer, or primary peritoneal cancer may include the following: - Hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. Lymph nodes and other tissues in the pelvis and abdomen are removed and checked under a microscope to look for cancer cells. Surgery is followed by one of the following: - Intravenous chemotherapy. - Intraperitoneal chemotherapy. - Chemotherapy and targeted therapy (bevacizumab, olaparib, or niraparib). - Chemotherapy followed by hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. - Chemotherapy alone for patients who cannot have surgery. - A clinical trial of intraperitoneal radiation therapy, immunotherapy (vaccine therapy), or targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II ovarian epithelial cancer, stage III ovarian epithelial cancer, stage IV ovarian epithelial cancer, fallopian tube cancer and primary peritoneal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +"what research (or clinical trials) is being done for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?","New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. Some women receive a treatment called intraperitoneal radiation therapy, in which radioactive liquid is put directly in the abdomen through a catheter. Intraperitoneal radiation therapy is being studied to treat advanced ovarian cancer. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat advanced ovarian cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,"Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer" +How to prevent Oral Cavity and Oropharyngeal Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for oral cavity cancer and oropharyngeal cancer: - Tobacco use - Alcohol use - Tobacco and alcohol use - Betel quid or gutka chewing - Personal history of head and neck cancer - The following is a risk factor for oropharyngeal cancer: - HPV infection - The following is a protective factor for oral cavity cancer and oropharyngeal cancer: - Quitting smoking - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. Oral cavity cancer and oropharyngeal cancer are two different diseases, but they have some risk factors in common. + + + The following are risk factors for oral cavity cancer and oropharyngeal cancer: + Tobacco use Using tobacco is the most common cause of oral cavity cancer and oropharyngeal cancer. The risk of these cancers is about 5 to 10 times higher for current smokers than for people who have never smoked. The use of all types of tobacco, including cigarettes, pipes, cigars, and smokeless tobacco (snuff and chewing tobacco) can cause cancer of the oral cavity and oropharynx. For cigarette smokers, the risk of oral cavity cancer and oropharyngeal cancer increases with the number of cigarettes smoked per day. Alcohol use Using alcohol is also an important risk factor for oral cavity cancer and oropharyngeal cancer. The risk of oral cavity cancer and oropharyngeal cancer increases with the number of alcoholic drinks consumed per day. The risk of oral cavity cancer and oropharyngeal cancer is about twice as high in people who have 3 to 4 alcoholic drinks per day and 5 times higher in people who have 5 or more alcoholic drinks per day compared with those who don't drink alcohol. Tobacco and alcohol use The risk of oral cavity cancer and oropharyngeal cancer is 2 to 3 times higher in people who use both tobacco and alcohol than it is in people who use only tobacco or only alcohol. The risk of oral cavity cancer and oropharyngeal cancer is about 35 times higher in people who smoke 2 or more packs of cigarettes per day and have more than 4 alcoholic drinks per day than it is in people who have never smoked cigarettes or consumed alcohol. Betel quid or gutka chewing Chewing betel quid or gutka (betel quid mixed with tobacco) has been shown to increase the risk of oral cavity cancer and oropharyngeal cancer. Betel quid contains areca nut, which is a cancer-causing substance. The risk of oral cavity cancer and oropharyngeal cancer increases with how long and how often betel quid or gutka are chewed. The risk for oral cavity cancer and oropharyngeal cancer is higher when chewing gutka than when chewing betel quid alone. Betel quid and gutka chewing is common in many countries in South Asia and Southeast Asia, including China and India. Personal history of head and neck cancer A personal history of head and neck cancer increases the risk of oral cavity cancer and oropharyngeal cancer. + + + The following is a risk factor for oropharyngeal cancer: + HPV infection Being infected with certain types of HPV, especially HPV type 16, increases the risk of oropharyngeal cancer. HPV infection is spread mainly through sexual contact. The risk of oropharyngeal cancer is about 15 times higher in people who have oral HPV 16 infection compared with people who do not have oral HPV 16 infection. + + + The following is a protective factor for oral cavity cancer and oropharyngeal cancer: + Quitting smoking Studies have shown that when people stop smoking cigarettes, their risk of oral cavity cancer and oropharyngeal cancer decreases by one half (50%) within 5 years. Within 20 years of quitting, their risk of oral cavity cancer and oropharyngeal cancer is the same as for a person who never smoked cigarettes. + + + It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. + It has not been proven that stopping alcohol use will decrease the risk of oral cavity cancer or oropharyngeal cancer. Getting an HPV vaccination greatly lessens the risk of oral HPV infection. It is not yet known whether getting an HPV vaccination at any age will decrease the risk of oropharyngeal cancer from HPV infection. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.",CancerGov,Oral Cavity and Oropharyngeal Cancer +Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for oral cavity cancer and oropharyngeal cancer: - Tobacco use - Alcohol use - Tobacco and alcohol use - Betel quid or gutka chewing - Personal history of head and neck cancer - The following is a risk factor for oropharyngeal cancer: - HPV infection - The following is a protective factor for oral cavity cancer and oropharyngeal cancer: - Quitting smoking - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. Oral cavity cancer and oropharyngeal cancer are two different diseases, but they have some risk factors in common. + + + The following are risk factors for oral cavity cancer and oropharyngeal cancer: + Tobacco use Using tobacco is the most common cause of oral cavity cancer and oropharyngeal cancer. The risk of these cancers is about 5 to 10 times higher for current smokers than for people who have never smoked. The use of all types of tobacco, including cigarettes, pipes, cigars, and smokeless tobacco (snuff and chewing tobacco) can cause cancer of the oral cavity and oropharynx. For cigarette smokers, the risk of oral cavity cancer and oropharyngeal cancer increases with the number of cigarettes smoked per day. Alcohol use Using alcohol is also an important risk factor for oral cavity cancer and oropharyngeal cancer. The risk of oral cavity cancer and oropharyngeal cancer increases with the number of alcoholic drinks consumed per day. The risk of oral cavity cancer and oropharyngeal cancer is about twice as high in people who have 3 to 4 alcoholic drinks per day and 5 times higher in people who have 5 or more alcoholic drinks per day compared with those who don't drink alcohol. Tobacco and alcohol use The risk of oral cavity cancer and oropharyngeal cancer is 2 to 3 times higher in people who use both tobacco and alcohol than it is in people who use only tobacco or only alcohol. The risk of oral cavity cancer and oropharyngeal cancer is about 35 times higher in people who smoke 2 or more packs of cigarettes per day and have more than 4 alcoholic drinks per day than it is in people who have never smoked cigarettes or consumed alcohol. Betel quid or gutka chewing Chewing betel quid or gutka (betel quid mixed with tobacco) has been shown to increase the risk of oral cavity cancer and oropharyngeal cancer. Betel quid contains areca nut, which is a cancer-causing substance. The risk of oral cavity cancer and oropharyngeal cancer increases with how long and how often betel quid or gutka are chewed. The risk for oral cavity cancer and oropharyngeal cancer is higher when chewing gutka than when chewing betel quid alone. Betel quid and gutka chewing is common in many countries in South Asia and Southeast Asia, including China and India. Personal history of head and neck cancer A personal history of head and neck cancer increases the risk of oral cavity cancer and oropharyngeal cancer. + + + The following is a risk factor for oropharyngeal cancer: + HPV infection Being infected with certain types of HPV, especially HPV type 16, increases the risk of oropharyngeal cancer. HPV infection is spread mainly through sexual contact. The risk of oropharyngeal cancer is about 15 times higher in people who have oral HPV 16 infection compared with people who do not have oral HPV 16 infection. + + + It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. + It has not been proven that stopping alcohol use will decrease the risk of oral cavity cancer or oropharyngeal cancer. Getting an HPV vaccination greatly lessens the risk of oral HPV infection. It is not yet known whether getting an HPV vaccination at any age will decrease the risk of oropharyngeal cancer from HPV infection.",CancerGov,Oral Cavity and Oropharyngeal Cancer +what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.",CancerGov,Oral Cavity and Oropharyngeal Cancer +What is (are) Endometrial Cancer ?,"Key Points + - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Endometrial cancer is the most common invasive cancer of the female reproductive system. + + + Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. + The endometrium is the lining of the uterus. The uterus is part of the female reproductive system. It is a hollow, pear-shaped, muscular organ in the pelvis, where a fetus grows. Cancer of the endometrium is different from cancer of the muscle of the uterus, which is called sarcoma of the uterus. See the PDQ summary on Uterine Sarcoma Treatment for more information. See the following PDQ summaries for more information about endometrial cancer: - Endometrial Cancer Screening - Endometrial Cancer Treatment + + + Endometrial cancer is the most common invasive cancer of the female reproductive system. + Endometrial cancer is diagnosed most often in postmenopausal women at an average age of 60 years . From 2004 to 2013, the number of new cases of endometrial cancer increased slightly in white and African American women. From 2005 to 2014, the number of deaths from endometrial cancer also increased slightly in white and African American women. Compared with white women, rates of endometrial cancer are lower in Japanese Americans and in Latinas. The rates of endometrial cancer in white women are about the same as in African Americans or in native Hawaiians. The number of deaths from endometrial cancer is higher in African American women compared with women of other races.",CancerGov,Endometrial Cancer +How to prevent Endometrial Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of endometrial cancer: - Endometrial hyperplasia - Estrogen - Tamoxifen - Obesity, weight gain, metabolic syndrome, and diabetes - Genetic factors - The following protective factors decrease the risk of endometrial cancer: - Pregnancy and breast-feeding - Combination oral contraceptives - Physical activity - Cigarette smoking - It is not known if the following factors affect the risk of endometrial cancer: - Weight loss - Fruits, vegetables, and vitamins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent endometrial cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors increase the risk of endometrial cancer: + Endometrial hyperplasia Endometrial hyperplasia is an abnormal thickening of the endometrium (lining of the uterus). It is not cancer, but in some cases, it may lead to endometrial cancer. Estrogen Estrogen is a hormone made by the body. It helps the body develop and maintain female sex characteristics. Estrogen can affect the growth of some cancers, including endometrial cancer. A woman's risk of developing endometrial cancer is increased by being exposed to estrogen in the following ways: - Estrogen-only hormone replacement therapy: Estrogen may be given to replace the estrogen no longer produced by the ovaries in postmenopausal women or women whose ovaries have been removed. This is called hormone replacement therapy (HRT), or hormone therapy (HT). The use of HRT that contains only estrogen increases the risk of endometrial cancer and endometrial hyperplasia. For this reason, estrogen therapy alone is usually prescribed only for women who do not have a uterus. HRT that contains only estrogen also increases the risk of stroke and blood clots. When estrogen is combined with progestin (another hormone), it is called combination estrogen-progestin replacement therapy. For postmenopausal women, taking estrogen in combination with progestin does not increase the risk of endometrial cancer, but it does increase the risk of breast cancer. (See the Breast Cancer Prevention summary for more information.) - Early menstruation: Beginning to have menstrual periods at an early age increases the number of years the body is exposed to estrogen and increases a woman's risk of endometrial cancer. - Late menopause: Women who reach menopause at an older age are exposed to estrogen for a longer time and have an increased risk of endometrial cancer. - Never being pregnant: Because estrogen levels are lower during pregnancy, women who have never been pregnant are exposed to estrogen for a longer time than women who have been pregnant. This increases the risk of endometrial cancer. Tamoxifen Tamoxifen is one of a group of drugs called selective estrogen receptor modulators, or SERMs. Tamoxifen acts like estrogen on some tissues in the body, such as the uterus, but blocks the effects of estrogen on other tissues, such as the breast. Tamoxifen is used to prevent breast cancer in women who are at high risk for the disease. However, using tamoxifen for more than 2 years increases the risk of endometrial cancer. This risk is greater in postmenopausal women. Raloxifene is a SERM that is used to prevent bone weakness in postmenopausal women. However, it does not have estrogen-like effects on the uterus and has not been shown to increase the risk of endometrial cancer. Obesity, weight gain, metabolic syndrome, and diabetes Obesity, gaining weight as an adult, or having metabolic syndrome increases the risk of endometrial cancer. Obesity is related to other risk factors such as high estrogen levels, having extra fat around the waist, polycystic ovary syndrome, and lack of physical activity. Having metabolic syndrome increases the risk of endometrial cancer. Metabolic syndrome is a condition that includes extra fat around the waist, high blood sugar, high blood pressure, and high levels of triglycerides (a type of fat) in the blood. Genetic factors Hereditary nonpolyposis colon cancer (HNPCC) syndrome (also known as Lynch Syndrome) is an inherited disorder caused by changes in certain genes. Women who have HNPCC syndrome have a much higher risk of developing endometrial cancer than women who do not have HNPCC syndrome. Polycystic ovary syndrome (a disorder of the hormones made by the ovaries), and Cowden syndrome are inherited conditions that are linked to an increased risk of endometrial cancer. Women with a family history of endometrial cancer in a first-degree relative (mother, sister, or daughter) are also at increased risk of endometrial cancer. + + + The following protective factors decrease the risk of endometrial cancer: + Pregnancy and breast-feeding Estrogen levels are lower during pregnancy and when breast-feeding. The risk of endometrial cancer is lower in women who have had children. Breastfeeding for more than 18 months also decreases the risk of endometrial cancer. Combination oral contraceptives Taking contraceptives that combine estrogen and progestin (combination oral contraceptives) decreases the risk of endometrial cancer. The protective effect of combination oral contraceptives increases with the length of time they are used, and can last for many years after oral contraceptive use has been stopped. While taking oral contraceptives, women have a higher risk of blood clots, stroke, and heart attack, especially women who smoke and are older than 35 years. Physical activity Physical activity at home (exercise) or on the job may lower the risk of endometrial cancer. Cigarette smoking Smoking at least 20 cigarettes a day may lower the risk of endometrial cancer. The risk of endometrial cancer is even lower in postmenopausal women who smoke. However, there are many proven harms of smoking. Cigarette smokers live about 10 years less than nonsmokers. Cigarette smokers also have an increased risk of the following: - Heart disease. - Head and neck cancers. - Lung cancer. - Bladder cancer. - Pancreatic cancer. + + + It is not known if the following factors affect the risk of endometrial cancer: + Weight loss It is not known if losing weight decreases the risk of endometrial cancer. Fruits, vegetables, and vitamins A diet that includes, fruits, vegetables, phytoestrogen, soy, and vitamin D has not been found to affect the risk of endometrial cancer. Taking multivitamins has little or no effect on the risk of common cancers, including endometrial cancer. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent endometrial cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for endometrial cancer prevention trials that are now accepting patients.",CancerGov,Endometrial Cancer +Who is at risk for Endometrial Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of endometrial cancer: - Endometrial hyperplasia - Estrogen - Tamoxifen - Obesity, weight gain, metabolic syndrome, and diabetes - Genetic factors - The following protective factors decrease the risk of endometrial cancer: - Pregnancy and breast-feeding - Combination oral contraceptives - Physical activity - Cigarette smoking - It is not known if the following factors affect the risk of endometrial cancer: - Weight loss - Fruits, vegetables, and vitamins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent endometrial cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors increase the risk of endometrial cancer: + Endometrial hyperplasia Endometrial hyperplasia is an abnormal thickening of the endometrium (lining of the uterus). It is not cancer, but in some cases, it may lead to endometrial cancer. Estrogen Estrogen is a hormone made by the body. It helps the body develop and maintain female sex characteristics. Estrogen can affect the growth of some cancers, including endometrial cancer. A woman's risk of developing endometrial cancer is increased by being exposed to estrogen in the following ways: - Estrogen-only hormone replacement therapy: Estrogen may be given to replace the estrogen no longer produced by the ovaries in postmenopausal women or women whose ovaries have been removed. This is called hormone replacement therapy (HRT), or hormone therapy (HT). The use of HRT that contains only estrogen increases the risk of endometrial cancer and endometrial hyperplasia. For this reason, estrogen therapy alone is usually prescribed only for women who do not have a uterus. HRT that contains only estrogen also increases the risk of stroke and blood clots. When estrogen is combined with progestin (another hormone), it is called combination estrogen-progestin replacement therapy. For postmenopausal women, taking estrogen in combination with progestin does not increase the risk of endometrial cancer, but it does increase the risk of breast cancer. (See the Breast Cancer Prevention summary for more information.) - Early menstruation: Beginning to have menstrual periods at an early age increases the number of years the body is exposed to estrogen and increases a woman's risk of endometrial cancer. - Late menopause: Women who reach menopause at an older age are exposed to estrogen for a longer time and have an increased risk of endometrial cancer. - Never being pregnant: Because estrogen levels are lower during pregnancy, women who have never been pregnant are exposed to estrogen for a longer time than women who have been pregnant. This increases the risk of endometrial cancer. Tamoxifen Tamoxifen is one of a group of drugs called selective estrogen receptor modulators, or SERMs. Tamoxifen acts like estrogen on some tissues in the body, such as the uterus, but blocks the effects of estrogen on other tissues, such as the breast. Tamoxifen is used to prevent breast cancer in women who are at high risk for the disease. However, using tamoxifen for more than 2 years increases the risk of endometrial cancer. This risk is greater in postmenopausal women. Raloxifene is a SERM that is used to prevent bone weakness in postmenopausal women. However, it does not have estrogen-like effects on the uterus and has not been shown to increase the risk of endometrial cancer. Obesity, weight gain, metabolic syndrome, and diabetes Obesity, gaining weight as an adult, or having metabolic syndrome increases the risk of endometrial cancer. Obesity is related to other risk factors such as high estrogen levels, having extra fat around the waist, polycystic ovary syndrome, and lack of physical activity. Having metabolic syndrome increases the risk of endometrial cancer. Metabolic syndrome is a condition that includes extra fat around the waist, high blood sugar, high blood pressure, and high levels of triglycerides (a type of fat) in the blood. Genetic factors Hereditary nonpolyposis colon cancer (HNPCC) syndrome (also known as Lynch Syndrome) is an inherited disorder caused by changes in certain genes. Women who have HNPCC syndrome have a much higher risk of developing endometrial cancer than women who do not have HNPCC syndrome. Polycystic ovary syndrome (a disorder of the hormones made by the ovaries), and Cowden syndrome are inherited conditions that are linked to an increased risk of endometrial cancer. Women with a family history of endometrial cancer in a first-degree relative (mother, sister, or daughter) are also at increased risk of endometrial cancer. + + + It is not known if the following factors affect the risk of endometrial cancer: + Weight loss It is not known if losing weight decreases the risk of endometrial cancer. Fruits, vegetables, and vitamins A diet that includes, fruits, vegetables, phytoestrogen, soy, and vitamin D has not been found to affect the risk of endometrial cancer. Taking multivitamins has little or no effect on the risk of common cancers, including endometrial cancer.",CancerGov,Endometrial Cancer +what research (or clinical trials) is being done for Endometrial Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent endometrial cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for endometrial cancer prevention trials that are now accepting patients.",CancerGov,Endometrial Cancer +What is (are) AIDS-Related Lymphoma ?,"Key Points + - AIDS-related lymphoma is a disease in which malignant (cancer) cells form in the lymph system of patients who have acquired immunodeficiency syndrome (AIDS). - There are many different types of lymphoma. - Signs of AIDS-related lymphoma include weight loss, fever, and night sweats. - Tests that examine the lymph system and other parts of the body are used to help detect (find) and diagnose AIDS-related lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + AIDS-related lymphoma is a disease in which malignant (cancer) cells form in the lymph system of patients who have acquired immunodeficiency syndrome (AIDS). + AIDS is caused by the human immunodeficiency virus (HIV), which attacks and weakens the body's immune system. The immune system is then unable to fight infection and disease. People with HIV disease have an increased risk of infection and lymphoma or other types of cancer. A person with HIV disease who develops certain types of infections or cancer is then diagnosed with AIDS. Sometimes, people are diagnosed with AIDS and AIDS-related lymphoma at the same time. For information about AIDS and its treatment, please see the AIDSinfo website. AIDS-related lymphoma is a type of cancer that affects the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the brain, stomach, thyroid gland, and skin. Sometimes AIDS-related lymphoma occurs outside the lymph nodes in the bone marrow, liver, meninges (thin membranes that cover the brain) and gastrointestinal tract. Less often, it may occur in the anus, heart, bile duct, gingiva, and muscles. + + + There are many different types of lymphoma. + Lymphomas are divided into two general types: - Hodgkin lymphoma. - Non-Hodgkin lymphoma. Both Hodgkin lymphoma and non-Hodgkin lymphoma may occur in patients with AIDS, but non-Hodgkin lymphoma is more common. When a person with AIDS has non-Hodgkin lymphoma, it is called AIDS-related lymphoma. When AIDS-related lymphoma occurs in the central nervous system (CNS), it is called AIDS-related primary CNS lymphoma. Non-Hodgkin lymphomas are grouped by the way their cells look under a microscope. They may be indolent (slow-growing) or aggressive (fast-growing). AIDS-related lymphomas are aggressive. There are two main types of AIDS-related non-Hodgkin lymphoma: - Diffuse large B-cell lymphoma (including B-cell immunoblastic lymphoma). - Burkitt or Burkitt-like lymphoma. For more information about lymphoma or AIDS-related cancers, see the following PDQ summaries: - Adult Non-Hodgkin Lymphoma Treatment - Childhood Non-Hodgkin Lymphoma Treatment - Primary CNS Lymphoma Treatment - Kaposi Sarcoma Treatment",CancerGov,AIDS-Related Lymphoma +What are the symptoms of AIDS-Related Lymphoma ?,"Signs of AIDS-related lymphoma include weight loss, fever, and night sweats. These and other signs and symptoms may be caused by AIDS-related lymphoma or by other conditions. Check with your doctor if you have any of the following: - Weight loss or fever for no known reason. - Night sweats. - Painless, swollen lymph nodes in the neck, chest, underarm, or groin. - A feeling of fullness below the ribs.",CancerGov,AIDS-Related Lymphoma +How to diagnose AIDS-Related Lymphoma ?,"Tests that examine the lymph system and other parts of the body are used to help detect (find) and diagnose AIDS-related lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - HIV test : A test to measure the level of HIV antibodies in a sample of blood. Antibodies are made by the body when it is invaded by a foreign substance. A high level of HIV antibodies may mean the body has been infected with HIV. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.",CancerGov,AIDS-Related Lymphoma +What is the outlook for AIDS-Related Lymphoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The age of the patient. - The number of CD4 lymphocytes (a type of white blood cell) in the blood. - The number of places in the body lymphoma is found outside the lymph system. - Whether the patient has a history of intravenous (IV) drug use. - The patient's ability to carry out regular daily activities.,CancerGov,AIDS-Related Lymphoma +What are the stages of AIDS-Related Lymphoma ?,"Key Points + - After AIDS-related lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of AIDS-related lymphoma may include E and S. - The following stages are used for AIDS-related lymphoma: - Stage I - Stage II - Stage III - Stage IV - For treatment, AIDS-related lymphomas are grouped based on where they started in the body, as follows: - Peripheral/systemic lymphoma - Primary CNS lymphoma + + + After AIDS-related lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. + The process used to find out if cancer cells have spread within the lymph system or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment, but AIDS-related lymphoma is usually advanced when it is diagnosed. The following tests and procedures may be used in the staging process: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. The blood sample will be checked for the level of LDH (lactate dehydrogenase). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, lymph nodes, and liver, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. The sample may also be checked for Epstein-Barr virus. This procedure is also called an LP or spinal tap. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Stages of AIDS-related lymphoma may include E and S. + AIDS-related lymphoma may be described as follows: - E: ""E"" stands for extranodal and means the cancer is found in an area or organ other than the lymph nodes or has spread to tissues beyond, but near, the major lymphatic areas. - S: ""S"" stands for spleen and means the cancer is found in the spleen. + + + The following stages are used for AIDS-related lymphoma: + Stage I Stage I AIDS-related lymphoma is divided into stage I and stage IE. - Stage I: Cancer is found in one lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen). - Stage IE: Cancer is found in one organ or area outside the lymph nodes. Stage II Stage II AIDS-related lymphoma is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm. Cancer is also found outside the lymph nodes in one organ or area on the same side of the diaphragm as the affected lymph nodes. Stage III Stage III AIDS-related lymphoma is divided into stage III, stage IIIE, stage IIIS, and stage IIIE+S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE+S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV AIDS-related lymphoma, the cancer: - is found throughout one or more organs that are not part of a lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen) and may be in lymph nodes near those organs; or - is found in one organ that is not part of a lymphatic area and has spread to organs or lymph nodes far away from that organ; or - is found in the liver, bone marrow, cerebrospinal fluid (CSF), or lungs (other than cancer that has spread to the lungs from nearby areas). Patients who are infected with the Epstein-Barr virus or whose AIDS-related lymphoma affects the bone marrow have an increased risk of the cancer spreading to the central nervous system (CNS). + + + For treatment, AIDS-related lymphomas are grouped based on where they started in the body, as follows: + Peripheral/systemic lymphoma Lymphoma that starts in the lymph system or elsewhere in the body, other than the brain, is called peripheral/systemic lymphoma. It may spread throughout the body, including to the brain or bone marrow. It is often diagnosed in an advanced stage. Primary CNS lymphoma Primary CNS lymphoma starts in the central nervous system (brain and spinal cord). It is linked to the Epstein-Barr virus. Lymphoma that starts somewhere else in the body and spreads to the central nervous system is not primary CNS lymphoma.",CancerGov,AIDS-Related Lymphoma +What are the treatments for AIDS-Related Lymphoma ?,"Key Points + - There are different types of treatment for patients with AIDS-related lymphoma. - Treatment of AIDS-related lymphoma combines treatment of the lymphoma with treatment for AIDS. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with AIDS-related lymphoma. + Different types of treatment are available for patients with AIDS-related lymphoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Treatment of AIDS-related lymphoma combines treatment of the lymphoma with treatment for AIDS. + Patients with AIDS have weakened immune systems and treatment can cause the immune system to become even weaker. For this reason, treating patients who have AIDS-related lymphoma is difficult and some patients may be treated with lower doses of drugs than lymphoma patients who do not have AIDS. Combined antiretroviral therapy (cART) is used to lessen the damage to the immune system caused by HIV. Treatment with combined antiretroviral therapy may allow some patients with AIDS-related lymphoma to safely receive anticancer drugs in standard or higher doses. In these patients, treatment may work as well as it does in lymphoma patients who do not have AIDS. Medicine to prevent and treat infections, which can be serious, is also used. For more information about AIDS and its treatment, please see the AIDSinfo website. + + + Four types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on where the cancer has formed. Intrathecal chemotherapy may be used in patients who are more likely to have lymphoma in the central nervous system (CNS). Chemotherapy is used in the treatment of AIDS-related peripheral/systemic lymphoma. It is not yet known whether it is best to give combined antiretroviral therapy at the same time as chemotherapy or after chemotherapy ends. Colony-stimulating factors are sometimes given together with chemotherapy. This helps lessen the side effects chemotherapy may have on the bone marrow. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on where the cancer has formed. External radiation therapy is used to treat AIDS-related primary CNS lymphoma. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. These may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Rituximab is used in the treatment of AIDS-related peripheral/systemic lymphoma. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + Treatment Options for AIDS-Related Lymphoma + + + AIDS-Related Peripheral/Systemic Lymphoma + Treatment of AIDS-related peripheral/systemic lymphoma may include the following: - Combination chemotherapy with or without targeted therapy. - High-dose chemotherapy and stem cell transplant, for lymphoma that has not responded to treatment or has come back. - Intrathecal chemotherapy for lymphoma that is likely to spread to the central nervous system (CNS). Check the list of NCI-supported cancer clinical trials that are now accepting patients with AIDS-related peripheral/systemic lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + AIDS-Related Primary Central Nervous System Lymphoma + Treatment of AIDS-related primary central nervous system lymphoma may include the following: - External radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with AIDS-related primary CNS lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,AIDS-Related Lymphoma +What is (are) Pancreatic Cancer ?,"Key Points + - Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas. - Smoking and health history can affect the risk of pancreatic cancer. - Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. - Pancreatic cancer is difficult to detect (find) and diagnose early. - Tests that examine the pancreas are used to detect (find), diagnose, and stage pancreatic cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Pancreatic cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas. + The pancreas is a gland about 6 inches long that is shaped like a thin pear lying on its side. The wider end of the pancreas is called the head, the middle section is called the body, and the narrow end is called the tail. The pancreas lies between the stomach and the spine. The pancreas has two main jobs in the body: - To make juices that help digest (break down) food. - To make hormones, such as insulin and glucagon, that help control blood sugar levels. Both of these hormones help the body use and store the energy it gets from food. The digestive juices are made by exocrine pancreas cells and the hormones are made by endocrine pancreas cells. About 95% of pancreatic cancers begin in exocrine cells. This summary is about exocrine pancreatic cancer. For information on endocrine pancreatic cancer, see the PDQ summary on Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment. For information on pancreatic cancer in children, see the PDQ summary on Unusual Cancers of Childhood Treatment.",CancerGov,Pancreatic Cancer +Who is at risk for Pancreatic Cancer? ?,"Smoking and health history can affect the risk of pancreatic cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for pancreatic cancer include the following: - Smoking. - Being very overweight. - Having a personal history of diabetes or chronic pancreatitis. - Having a family history of pancreatic cancer or pancreatitis. - Having certain hereditary conditions, such as: - Multiple endocrine neoplasia type 1 (MEN1) syndrome. - Hereditary nonpolyposis colon cancer (HNPCC; Lynch syndrome). - von Hippel-Lindau syndrome. - Peutz-Jeghers syndrome. - Hereditary breast and ovarian cancer syndrome. - Familial atypical multiple mole melanoma (FAMMM) syndrome.",CancerGov,Pancreatic Cancer +What are the symptoms of Pancreatic Cancer ?,"Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. + Pancreatic cancer may not cause early signs or symptoms. Signs and symptoms may be caused by pancreatic cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). - Light-colored stools. - Dark urine. - Pain in the upper or middle abdomen and back. - Weight loss for no known reason. - Loss of appetite. - Feeling very tired. + + + Pancreatic cancer is difficult to detect (find) and diagnose early. + Pancreatic cancer is difficult to detect and diagnose for the following reasons: - There arent any noticeable signs or symptoms in the early stages of pancreatic cancer. - The signs and symptoms of pancreatic cancer, when present, are like the signs and symptoms of many other illnesses. - The pancreas is hidden behind other organs such as the stomach, small intestine, liver, gallbladder, spleen, and bile ducts.",CancerGov,Pancreatic Cancer +How to diagnose Pancreatic Cancer ?,"Tests that examine the pancreas are used to detect (find), diagnose, and stage pancreatic cancer. Pancreatic cancer is usually diagnosed with tests and procedures that make pictures of the pancreas and the area around it. The process used to find out if cancer cells have spread within and around the pancreas is called staging. Tests and procedures to detect, diagnose, and stage pancreatic cancer are usually done at the same time. In order to plan treatment, it is important to know the stage of the disease and whether or not the pancreatic cancer can be removed by surgery. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as bilirubin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances, such as CA 19-9, and carcinoembryonic antigen (CEA), made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. A spiral or helical CT scan makes a series of very detailed pictures of areas inside the body using an x-ray machine that scans the body in a spiral path. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - Abdominal ultrasound : An ultrasound exam used to make pictures of the inside of the abdomen. The ultrasound transducer is pressed against the skin of the abdomen and directs high-energy sound waves (ultrasound) into the abdomen. The sound waves bounce off the internal tissues and organs and make echoes. The transducer receives the echoes and sends them to a computer, which uses the echoes to make pictures called sonograms. The picture can be printed to be looked at later. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes pancreatic cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope (a thin, lighted tube) is passed through the mouth, esophagus, and stomach into the first part of the small intestine. A catheter (a smaller tube) is then inserted through the endoscope into the pancreatic ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken. - Percutaneous transhepatic cholangiography (PTC): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If a blockage is found, a thin, flexible tube called a stent is sometimes left in the liver to drain bile into the small intestine or a collection bag outside the body. This test is done only if ERCP cannot be done. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. The laparoscope may have an ultrasound probe at the end in order to bounce high-energy sound waves off internal organs, such as the pancreas. This is called laparoscopic ultrasound. Other instruments may be inserted through the same or other incisions to perform procedures such as taking tissue samples from the pancreas or a sample of fluid from the abdomen to check for cancer. - Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. There are several ways to do a biopsy for pancreatic cancer. A fine needle or a core needle may be inserted into the pancreas during an x-ray or ultrasound to remove cells. Tissue may also be removed during a laparoscopy.",CancerGov,Pancreatic Cancer +What is the outlook for Pancreatic Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether or not the tumor can be removed by surgery. - The stage of the cancer (the size of the tumor and whether the cancer has spread outside the pancreas to nearby tissues or lymph nodes or to other places in the body). - The patients general health. - Whether the cancer has just been diagnosed or has recurred (come back). Pancreatic cancer can be controlled only if it is found before it has spread, when it can be completely removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease.",CancerGov,Pancreatic Cancer +What are the stages of Pancreatic Cancer ?,"Key Points + - Tests and procedures to stage pancreatic cancer are usually done at the same time as diagnosis. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for pancreatic cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + Tests and procedures to stage pancreatic cancer are usually done at the same time as diagnosis. + The process used to find out if cancer has spread within the pancreas or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of some of the tests used to diagnose pancreatic cancer are often also used to stage the disease. See the General Information section for more information. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if pancreatic cancer spreads to the liver, the cancer cells in the liver are actually pancreatic cancer cells. The disease is metastatic pancreatic cancer, not liver cancer. + + + The following stages are used for pancreatic cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the pancreas. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and is found in the pancreas only. Stage I is divided into stage IA and stage IB, based on the size of the tumor. - Stage IA: The tumor is 2 centimeters or smaller. - Stage IB: The tumor is larger than 2 centimeters. Stage II In stage II, cancer may have spread to nearby tissue and organs, and may have spread to lymph nodes near the pancreas. Stage II is divided into stage IIA and stage IIB, based on where the cancer has spread. - Stage IIA: Cancer has spread to nearby tissue and organs but has not spread to nearby lymph nodes. - Stage IIB: Cancer has spread to nearby lymph nodes and may have spread to nearby tissue and organs. Stage III In stage III, cancer has spread to the major blood vessels near the pancreas and may have spread to nearby lymph nodes. Stage IV In stage IV, cancer may be of any size and has spread to distant organs, such as the liver, lung, and peritoneal cavity. It may have also spread to organs and tissues near the pancreas or to lymph nodes.",CancerGov,Pancreatic Cancer +What are the treatments for Pancreatic Cancer ?,"Key Points + - There are different types of treatment for patients with pancreatic cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Chemoradiation therapy - Targeted therapy - There are treatments for pain caused by pancreatic cancer. - Patients with pancreatic cancer have special nutritional needs. - New types of treatment are being tested in clinical trials. - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed + + + There are different types of treatment for patients with pancreatic cancer. + Different types of treatment are available for patients with pancreatic cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery One of the following types of surgery may be used to take out the tumor: - Whipple procedure: A surgical procedure in which the head of the pancreas, the gallbladder, part of the stomach, part of the small intestine, and the bile duct are removed. Enough of the pancreas is left to produce digestive juices and insulin. - Total pancreatectomy: This operation removes the whole pancreas, part of the stomach, part of the small intestine, the common bile duct, the gallbladder, the spleen, and nearby lymph nodes. - Distal pancreatectomy: The body and the tail of the pancreas and usually the spleen are removed. If the cancer has spread and cannot be removed, the following types of palliative surgery may be done to relieve symptoms and improve quality of life: - Surgical biliary bypass: If cancer is blocking the small intestine and bile is building up in the gallbladder, a biliary bypass may be done. During this operation, the doctor will cut the gallbladder or bile duct and sew it to the small intestine to create a new pathway around the blocked area. - Endoscopic stent placement: If the tumor is blocking the bile duct, surgery may be done to put in a stent (a thin tube) to drain bile that has built up in the area. The doctor may place the stent through a catheter that drains to the outside of the body or the stent may go around the blocked area and drain the bile into the small intestine. - Gastric bypass: If the tumor is blocking the flow of food from the stomach, the stomach may be sewn directly to the small intestine so the patient can continue to eat normally. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat pancreatic cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Pancreatic Cancer for more information. Chemoradiation therapy Chemoradiation therapy combines chemotherapy and radiation therapy to increase the effects of both. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Tyrosine kinase inhibitors (TKIs) are targeted therapy drugs that block signals needed for tumors to grow. Erlotinib is a type of TKI used to treat pancreatic cancer. See Drugs Approved for Pancreatic Cancer for more information. + + + There are treatments for pain caused by pancreatic cancer. + Pain can occur when the tumor presses on nerves or other organs near the pancreas. When pain medicine is not enough, there are treatments that act on nerves in the abdomen to relieve the pain. The doctor may inject medicine into the area around affected nerves or may cut the nerves to block the feeling of pain. Radiation therapy with or without chemotherapy can also help relieve pain by shrinking the tumor. See the PDQ summary on Cancer Pain for more information. + + + Patients with pancreatic cancer have special nutritional needs. + Surgery to remove the pancreas may affect its ability to make pancreatic enzymes that help to digest food. As a result, patients may have problems digesting food and absorbing nutrients into the body. To prevent malnutrition, the doctor may prescribe medicines that replace these enzymes. See the PDQ summary on Nutrition in Cancer Care for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stages I and II Pancreatic Cancer + Treatment of stage I and stage II pancreatic cancer may include the following: - Surgery. - Surgery followed by chemotherapy. - Surgery followed by chemoradiation. - A clinical trial of combination chemotherapy. - A clinical trial of chemotherapy and targeted therapy, with or without chemoradiation. - A clinical trial of chemotherapy and/or radiation therapy before surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I pancreatic cancer and stage II pancreatic cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Pancreatic Cancer + Treatment of stage III pancreatic cancer may include the following: - Palliative surgery or stent placement to bypass blocked areas in ducts or the small intestine. - Chemotherapy followed by chemoradiation. - Chemoradiation followed by chemotherapy. - Chemotherapy with or without targeted therapy. - A clinical trial of new anticancer therapies together with chemotherapy or chemoradiation. - A clinical trial of radiation therapy given during surgery or internal radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III pancreatic cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Pancreatic Cancer + Treatment of stage IV pancreatic cancer may include the following: - Palliative treatments to relieve pain, such as nerve blocks, and other supportive care. - Palliative surgery or stent placement to bypass blocked areas in ducts or the small intestine. - Chemotherapy with or without targeted therapy. - Clinical trials of new anticancer agents with or without chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV pancreatic cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Pancreatic Cancer +what research (or clinical trials) is being done for Pancreatic Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Pancreatic Cancer +What is (are) Bile Duct Cancer (Cholangiocarcinoma) ?,"Key Points + - Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts. - Having colitis or certain liver diseases can increase the risk of bile duct cancer. - Signs of bile duct cancer include jaundice and pain in the abdomen. - Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. - Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts. + A network of tubes, called ducts, connects the liver, gallbladder, and small intestine. This network begins in the liver where many small ducts collect bile (a fluid made by the liver to break down fats during digestion). The small ducts come together to form the right and left hepatic ducts, which lead out of the liver. The two ducts join outside the liver and form the common hepatic duct. The cystic duct connects the gallbladder to the common hepatic duct. Bile from the liver passes through the hepatic ducts, common hepatic duct, and cystic duct and is stored in the gallbladder. When food is being digested, bile stored in the gallbladder is released and passes through the cystic duct to the common bile duct and into the small intestine. Bile duct cancer is also called cholangiocarcinoma. There are two types of bile duct cancer: - Intrahepatic bile duct cancer : This type of cancer forms in the bile ducts inside the liver. Only a small number of bile duct cancers are intrahepatic. Intrahepatic bile duct cancers are also called intrahepatic cholangiocarcinomas. - Extrahepatic bile duct cancer : The extrahepatic bile duct is made up of the hilum region and the distal region. Cancer can form in either region: - Perihilar bile duct cancer: This type of cancer is found in the hilum region, the area where the right and left bile ducts exit the liver and join to form the common hepatic duct. Perihilar bile duct cancer is also called a Klatskin tumor or perihilar cholangiocarcinoma. - Distal extrahepatic bile duct cancer: This type of cancer is found in the distal region. The distal region is made up of the common bile duct which passes through the pancreas and ends in the small intestine. Distal extrahepatic bile duct cancer is also called extrahepatic cholangiocarcinoma.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +Who is at risk for Bile Duct Cancer (Cholangiocarcinoma)? ?,"Having colitis or certain liver diseases can increase the risk of bile duct cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for bile duct cancer include the following conditions: - Primary sclerosing cholangitis (a progressive disease in which the bile ducts become blocked by inflammation and scarring). - Chronic ulcerative colitis. - Cysts in the bile ducts (cysts block the flow of bile and can cause swollen bile ducts, inflammation, and infection). - Infection with a Chinese liver fluke parasite.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +What are the symptoms of Bile Duct Cancer (Cholangiocarcinoma) ?,Signs of bile duct cancer include jaundice and pain in the abdomen. These and other signs and symptoms may be caused by bile duct cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin or whites of the eyes). - Dark urine. - Clay colored stool. - Pain in the abdomen. - Fever. - Itchy skin. - Nausea and vomiting. - Weight loss for an unknown reason.,CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +How to diagnose Bile Duct Cancer (Cholangiocarcinoma) ?,"Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. Procedures that make pictures of the bile ducts and the nearby area help diagnose bile duct cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bile ducts or to distant parts of the body is called staging. In order to plan treatment, it is important to know if the bile duct cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage bile duct cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of bilirubin and alkaline phosphatase released into the blood by the liver. A higher than normal amount of these substances can be a sign of liver disease that may be caused by bile duct cancer. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - Carcinoembryonic antigen (CEA) and CA 19-9 tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. Higher than normal levels of carcinoembryonic antigen (CEA) and CA 19-9 may mean there is bile duct cancer. - Ultrasound exam : A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - MRCP (magnetic resonance cholangiopancreatography): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body such as the liver, bile ducts, gallbladder, pancreas, and pancreatic duct. + Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer. Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Different procedures may be used to obtain the sample of cells and tissue. The type of procedure used depends on whether the patient is well enough to have surgery. Types of biopsy procedures include the following: - Laparoscopy : A surgical procedure to look at the organs inside the abdomen, such as the bile ducts and liver, to check for signs of cancer. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as taking tissue samples to be checked for signs of cancer. - Percutaneous transhepatic cholangiography (PTC): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin, flexible tube called a stent may be left in the liver to drain bile into the small intestine or a collection bag outside the body. This procedure may be used when a patient cannot have surgery. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes bile duct cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope is passed through the mouth and stomach and into the small intestine. Dye is injected through the endoscope (thin, tube-like instrument with a light and a lens for viewing) into the bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. This procedure may be used when a patient cannot have surgery.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +What is the outlook for Bile Duct Cancer (Cholangiocarcinoma) ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the cancer is in the upper or lower part of the bile duct system. - The stage of the cancer (whether it affects only the bile ducts or has spread to the liver, lymph nodes, or other places in the body). - Whether the cancer has spread to nearby nerves or veins. - Whether the cancer can be completely removed by surgery. - Whether the patient has other conditions, such as primary sclerosing cholangitis. - Whether the level of CA 19-9 is higher than normal. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment options may also depend on the symptoms caused by the cancer. Bile duct cancer is usually found after it has spread and can rarely be completely removed by surgery. Palliative therapy may relieve symptoms and improve the patient's quality of life.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +what research (or clinical trials) is being done for Bile Duct Cancer (Cholangiocarcinoma) ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Liver transplant In a liver transplant, the entire liver is removed and replaced with a healthy donated liver. A liver transplant may be done in patients with perihilar bile duct cancer. If the patient has to wait for a donated liver, other treatment is given as needed. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +What are the stages of Bile Duct Cancer (Cholangiocarcinoma) ?,"Key Points + - The results of diagnostic and staging tests are used to find out if cancer cells have spread. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Stages are used to describe the different types of bile duct cancer. - Intrahepatic bile duct cancer - Perihilar bile duct cancer - Distal extrahepatic bile duct cancer - The following groups are used to plan treatment: - Resectable (localized) bile duct cancer - Unresectable, metastatic, or recurrent bile duct cancer + + + The results of diagnostic and staging tests are used to find out if cancer cells have spread. + The process used to find out if cancer has spread to other parts of the body is called staging. For bile duct cancer, the information gathered from tests and procedures is used to plan treatment, including whether the tumor can be removed by surgery. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if bile duct cancer spreads to the liver, the cancer cells in the liver are actually bile duct cancer cells. The disease is metastatic bile duct cancer, not liver cancer. + + + Stages are used to describe the different types of bile duct cancer. + Intrahepatic bile duct cancer - Stage 0: Abnormal cells are found in the innermost layer of tissue lining the intrahepatic bile duct. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. - Stage I: There is one tumor that has spread into the intrahepatic bile duct and it has not spread into any blood vessels. - Stage II: There is one tumor that has spread through the wall of the bile duct and into a blood vessel, or there are multiple tumors that may have spread into a blood vessel. - Stage III: The tumor has spread through the tissue that lines the abdominal wall or has spread to organs or tissues near the liver such as the duodenum, colon, and stomach. - Stage IV: Stage IV is divided into stage IVA and stage IVB. - Stage IVA: The cancer has spread along the outside of the intrahepatic bile ducts or the cancer has spread to nearby lymph nodes. - Stage IVB: The cancer has spread to organs in other parts of the body. Perihilar bile duct cancer - Stage 0: Abnormal cells are found in the innermost layer of tissue lining the perihilar bile duct. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. - Stage I: Cancer has formed in the innermost layer of the wall of the perihilar bile duct and has spread into the muscle layer or fibrous tissue layer of the wall. - Stage II: Cancer has spread through the wall of the perihilar bile duct to nearby fatty tissue or to the liver. - Stage III: Stage III is divided into stage IIIA and stage IIIB. - Stage IIIA: Cancer has spread to branches on one side of the hepatic artery or of the portal vein. - Stage IIIB: Cancer has spread to nearby lymph nodes. Cancer may have spread into the wall of the perihilar bile duct or through the wall to nearby fatty tissue, the liver, or to branches on one side of the hepatic artery or of the portal vein. - Stage IV: Stage IV is divided into stage IVA and stage IVB. - Stage IVA: Cancer has spread to one or more of the following: - the main part of the portal vein and/or common hepatic artery; - the branches of the portal vein and/or common hepatic artery on both sides; - the right hepatic duct and the left branch of the hepatic artery or of the portal vein; - the left hepatic duct and the right branch of the hepatic artery or of the portal vein. Cancer may have spread to nearby lymph nodes. - Stage IVB: Cancer has spread to lymph nodes in more distant parts of the abdomen, or to organs in other parts of the body. Distal extrahepatic bile duct cancer - Stage 0: Abnormal cells are found in the innermost layer of tissue lining the distal extrahepatic bile duct. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. - Stage I: Stage I is divided into stage IA and stage IB. - Stage IA: Cancer has formed and is found in the distal extrahepatic bile duct wall only. - Stage IB: Cancer has formed and has spread through the wall of the distal extrahepatic bile duct but has not spread to nearby organs. - Stage II: Stage II is divided into stage IIA and stage IIB. - Stage IIA: Cancer has spread from the distal extrahepatic bile duct to the gallbladder, pancreas, duodenum, or other nearby organs. - Stage IIB: Cancer has spread from the distal extrahepatic bile duct to nearby lymph nodes. Cancer may have spread through the wall of the duct or to nearby organs. - Stage III: Cancer has spread to the large vessels that carry blood to the organs in the abdomen. Cancer may have spread to nearby lymph nodes. - Stage IV: Cancer has spread to organs in distant parts of the body. + + + The following groups are used to plan treatment: + Resectable (localized) bile duct cancer The cancer is in an area, such as the lower part of the common bile duct or perihilar area, where it can be removed completely by surgery. Unresectable, metastatic, or recurrent bile duct cancer Unresectable cancer cannot be removed completely by surgery. Most patients with bile duct cancer cannot have their cancer completely removed by surgery. Metastasis is the spread of cancer from the primary site (place where it started) to other places in the body. Metastatic bile duct cancer may have spread to the liver, other parts of the abdominal cavity, or to distant parts of the body. Recurrent bile duct cancer is cancer that has recurred (come back) after it has been treated. The cancer may come back in the bile ducts, liver, or gallbladder. Less often, it may come back in distant parts of the body.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +What are the treatments for Bile Duct Cancer (Cholangiocarcinoma) ?,"Key Points + - There are different types of treatment for patients with bile duct cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Liver transplant - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with bile duct cancer. + Different types of treatments are available for patients with bile duct cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery The following types of surgery are used to treat bile duct cancer: - Removal of the bile duct: A surgical procedure to remove part of the bile duct if the tumor is small and in the bile duct only. Lymph nodes are removed and tissue from the lymph nodes is viewed under a microscope to see if there is cancer. - Partial hepatectomy: A surgical procedure in which the part of the liver where cancer is found is removed. The part removed may be a wedge of tissue, an entire lobe, or a larger part of the liver, along with some normal tissue around it. - Whipple procedure: A surgical procedure in which the head of the pancreas, the gallbladder, part of the stomach, part of the small intestine, and the bile duct are removed. Enough of the pancreas is left to make digestive juices and insulin. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. It is not yet known whether chemotherapy or radiation therapy given after surgery helps keep the cancer from coming back. The following types of palliative surgery may be done to relieve symptoms caused by a blocked bile duct and improve quality of life: - Biliary bypass: A surgical procedure in which the part of the bile duct before the blockage is connected with part of the bile duct that is past the blockage or to the small intestine. This allows bile to flow to the gallbladder or small intestine. - Stent placement: A surgical procedure in which a stent (a thin, flexible tube or metal tube) is placed in the bile duct to open it and allow bile to flow into the small intestine or through a catheter that goes to a collection bag outside of the body. - Percutaneous transhepatic biliary drainage: A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If the bile duct is blocked, a thin, flexible tube called a stent may be left in the liver to drain bile into the small intestine or a collection bag outside the body. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. External and internal radiation therapy are used to treat bile duct cancer. It is not yet known whether external radiation therapy helps in the treatment of resectable bile duct cancer. In unresectable, metastatic, or recurrent bile duct cancer, new ways to improve the effect of external radiation therapy on cancer cells are being studied: - Hyperthermia therapy: A treatment in which body tissue is exposed to high temperatures to make cancer cells more sensitive to the effects of radiation therapy and certain anticancer drugs. - Radiosensitizers: Drugs that make cancer cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more cancer cells. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Systemic chemotherapy is used to treat unresectable, metastatic, or recurrent bile duct cancer. It is not yet known whether systemic chemotherapy helps in the treatment of resectable bile duct cancer. In unresectable, metastatic, or recurrent bile duct cancer, intra-arterial embolization is being studied. It is a procedure in which the blood supply to a tumor is blocked after anticancer drugs are given in blood vessels near the tumor. Sometimes, the anticancer drugs are attached to small beads that are injected into an artery that feeds the tumor. The beads block blood flow to the tumor as they release the drug. This allows a higher amount of drug to reach the tumor for a longer period of time, which may kill more cancer cells. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Liver transplant In a liver transplant, the entire liver is removed and replaced with a healthy donated liver. A liver transplant may be done in patients with perihilar bile duct cancer. If the patient has to wait for a donated liver, other treatment is given as needed. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Bile Duct Cancer + + + Intrahepatic Bile Duct Cancer + Resectable Intrahepatic Bile Duct Cancer Treatment of resectable intrahepatic bile duct cancer may include: - Surgery to remove the cancer, which may include partial hepatectomy. Embolization may be done before surgery. - Surgery followed by chemotherapy and/or radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I intrahepatic bile duct cancer and stage II intrahepatic bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Unresectable, Recurrent, or Metastatic Intrahepatic Bile Duct Cancer Treatment of unresectable, recurrent, or metastatic intrahepatic bile duct cancer may include the following: - Stent placement as palliative treatment to relieve symptoms and improve quality of life. - External or internal radiation therapy as palliative treatment to relieve symptoms and improve the quality of life. - Chemotherapy. - A clinical trial of external radiation therapy combined with hyperthermia therapy, radiosensitizer drugs, or chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III intrahepatic bile duct cancer, stage IV intrahepatic bile duct cancer and recurrent intrahepatic bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Perihilar Bile Duct Cancer + Resectable Perihilar Bile Duct Cancer Treatment of resectable perihilar bile duct cancer may include the following: - Surgery to remove the cancer, which may include partial hepatectomy. - Stent placement or percutaneous transhepatic biliary drainage as palliative therapy, to relieve jaundice and other symptoms and improve the quality of life. - Surgery followed by radiation therapy and/or chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I perihilar bile duct cancer and stage II perihilar bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Unresectable, Recurrent, or Metastatic Perihilar Bile Duct Cancer Treatment of unresectable, recurrent, or metastatic perihilar bile duct cancer may include the following: - Stent placement or biliary bypass as palliative treatment to relieve symptoms and improve the quality of life. - External or internal radiation therapy as palliative treatment to relieve symptoms and improve the quality of life. - Chemotherapy. - A clinical trial of external radiation therapy combined with hyperthermia therapy, radiosensitizer drugs, or chemotherapy. - A clinical trial of chemotherapy and radiation therapy followed by a liver transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III perihilar bile duct cancer, stage IV perihilar bile duct cancer and recurrent perihilar bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Distal Extrahepatic Bile Duct Cancer + Resectable Distal Extrahepatic Bile Duct Cancer Treatment of resectable distal extrahepatic bile duct cancer may include the following: - Surgery to remove the cancer, which may include a Whipple procedure. - Stent placement or percutaneous transhepatic biliary drainage as palliative therapy, to relieve jaundice and other symptoms and improve the quality of life. - Surgery followed by radiation therapy and/or chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized extrahepatic bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Unresectable, Recurrent, or Metastatic Distal Extrahepatic Bile Duct Cancer Treatment of unresectable, recurrent, or metastatic distal extrahepatic bile duct cancer may include the following: - Stent placement or biliary bypass as palliative treatment to relieve symptoms and improve the quality of life. - External or internal radiation therapy as palliative treatment to relieve symptoms and improve the quality of life. - Chemotherapy. - A clinical trial of external radiation therapy combined with hyperthermia therapy, radiosensitizer drugs, or chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with unresectable extrahepatic bile duct cancer, recurrent extrahepatic bile duct cancer and metastatic extrahepatic bile duct cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Bile Duct Cancer (Cholangiocarcinoma) +What is (are) Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,"Key Points + - Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas. - Pancreatic NETs may or may not cause signs or symptoms. - There are different kinds of functional pancreatic NETs. - Having certain syndromes can increase the risk of pancreatic NETs. - Different types of pancreatic NETs have different signs and symptoms. - Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs. - Other kinds of lab tests are used to check for the specific type of pancreatic NETs. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas. + The pancreas is a gland about 6 inches long that is shaped like a thin pear lying on its side. The wider end of the pancreas is called the head, the middle section is called the body, and the narrow end is called the tail. The pancreas lies behind the stomach and in front of the spine. There are two kinds of cells in the pancreas: - Endocrine pancreas cells make several kinds of hormones (chemicals that control the actions of certain cells or organs in the body), such as insulin to control blood sugar. They cluster together in many small groups (islets) throughout the pancreas. Endocrine pancreas cells are also called islet cells or islets of Langerhans. Tumors that form in islet cells are called islet cell tumors, pancreatic endocrine tumors, or pancreatic neuroendocrine tumors (pancreatic NETs). - Exocrine pancreas cells make enzymes that are released into the small intestine to help the body digest food. Most of the pancreas is made of ducts with small sacs at the end of the ducts, which are lined with exocrine cells. This summary discusses islet cell tumors of the endocrine pancreas. See the PDQ summary on Pancreatic Cancer Treatment for information on exocrine pancreatic cancer. Pancreatic neuroendocrine tumors (NETs) may be benign (not cancer) or malignant (cancer). When pancreatic NETs are malignant, they are called pancreatic endocrine cancer or islet cell carcinoma. Pancreatic NETs are much less common than pancreatic exocrine tumors and have a better prognosis. + + + There are different kinds of functional pancreatic NETs. + Pancreatic NETs make different kinds of hormones such as gastrin, insulin, and glucagon. Functional pancreatic NETs include the following: - Gastrinoma: A tumor that forms in cells that make gastrin. Gastrin is a hormone that causes the stomach to release an acid that helps digest food. Both gastrin and stomach acid are increased by gastrinomas. When increased stomach acid, stomach ulcers, and diarrhea are caused by a tumor that makes gastrin, it is called Zollinger-Ellison syndrome. A gastrinoma usually forms in the head of the pancreas and sometimes forms in the small intestine. Most gastrinomas are malignant (cancer). - Insulinoma: A tumor that forms in cells that make insulin. Insulin is a hormone that controls the amount of glucose (sugar) in the blood. It moves glucose into the cells, where it can be used by the body for energy. Insulinomas are usually slow-growing tumors that rarely spread. An insulinoma forms in the head, body, or tail of the pancreas. Insulinomas are usually benign (not cancer). - Glucagonoma: A tumor that forms in cells that make glucagon. Glucagon is a hormone that increases the amount of glucose in the blood. It causes the liver to break down glycogen. Too much glucagon causes hyperglycemia (high blood sugar). A glucagonoma usually forms in the tail of the pancreas. Most glucagonomas are malignant (cancer). - Other types of tumors: There are other rare types of functional pancreatic NETs that make hormones, including hormones that control the balance of sugar, salt, and water in the body. These tumors include: - VIPomas, which make vasoactive intestinal peptide. VIPoma may also be called Verner-Morrison syndrome. - Somatostatinomas, which make somatostatin. These other types of tumors are grouped together because they are treated in much the same way.",CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +Who is at risk for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)? ?,Having certain syndromes can increase the risk of pancreatic NETs. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Multiple endocrine neoplasia type 1 (MEN1) syndrome is a risk factor for pancreatic NETs.,CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +How to diagnose Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,"Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as glucose (sugar), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chromogranin A test: A test in which a blood sample is checked to measure the amount of chromogranin A in the blood. A higher than normal amount of chromogranin A and normal amounts of hormones such as gastrin, insulin, and glucagon can be a sign of a non-functional pancreatic NET. - Abdominal CT scan (CAT scan): A procedure that makes a series of detailed pictures of the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Somatostatin receptor scintigraphy : A type of radionuclide scan that may be used to find small pancreatic NETs. A small amount of radioactive octreotide (a hormone that attaches to tumors) is injected into a vein and travels through the blood. The radioactive octreotide attaches to the tumor and a special camera that detects radioactivity is used to show where the tumors are in the body. This procedure is also called octreotide scan and SRS. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes pancreatic cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope is passed through the mouth, esophagus, and stomach into the first part of the small intestine. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A catheter (a smaller tube) is then inserted through the endoscope into the pancreatic ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken and checked under a microscope for signs of cancer. - Angiogram : A procedure to look at blood vessels and the flow of blood. A contrast dye is injected into the blood vessel. As the contrast dye moves through the blood vessel, x-rays are taken to see if there are any blockages. - Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. The size of the incision depends on the reason the laparotomy is being done. Sometimes organs are removed or tissue samples are taken and checked under a microscope for signs of disease. - Intraoperative ultrasound : A procedure that uses high-energy sound waves (ultrasound) to create images of internal organs or tissues during surgery. A transducer placed directly on the organ or tissue is used to make the sound waves, which create echoes. The transducer receives the echoes and sends them to a computer, which uses the echoes to make pictures called sonograms. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. There are several ways to do a biopsy for pancreatic NETs. Cells may be removed using a fine or wide needle inserted into the pancreas during an x-ray or ultrasound. Tissue may also be removed during a laparoscopy (a surgical incision made in the wall of the abdomen). - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the blood. The radioactive material collects in bones where cancer cells have spread and is detected by a scanner. + + + Other kinds of lab tests are used to check for the specific type of pancreatic NETs. + The following tests and procedures may be used: Gastrinoma - Fasting serum gastrin test: A test in which a blood sample is checked to measure the amount of gastrin in the blood. This test is done after the patient has had nothing to eat or drink for at least 8 hours. Conditions other than gastrinoma can cause an increase in the amount of gastrin in the blood. - Basal acid output test: A test to measure the amount of acid made by the stomach. The test is done after the patient has had nothing to eat or drink for at least 8 hours. A tube is inserted through the nose or throat, into the stomach. The stomach contents are removed and four samples of gastric acid are removed through the tube. These samples are used to find out the amount of gastric acid made during the test and the pH level of the gastric secretions. - Secretin stimulation test : If the basal acid output test result is not normal, a secretin stimulation test may be done. The tube is moved into the small intestine and samples are taken from the small intestine after a drug called secretin is injected. Secretin causes the small intestine to make acid. When there is a gastrinoma, the secretin causes an increase in how much gastric acid is made and the level of gastrin in the blood. - Somatostatin receptor scintigraphy: A type of radionuclide scan that may be used to find small pancreatic NETs. A small amount of radioactive octreotide (a hormone that attaches to tumors) is injected into a vein and travels through the blood. The radioactive octreotide attaches to the tumor and a special camera that detects radioactivity is used to show where the tumors are in the body. This procedure is also called octreotide scan and SRS. Insulinoma - Fasting serum glucose and insulin test: A test in which a blood sample is checked to measure the amounts of glucose (sugar) and insulin in the blood. The test is done after the patient has had nothing to eat or drink for at least 24 hours. Glucagonoma - Fasting serum glucagon test: A test in which a blood sample is checked to measure the amount of glucagon in the blood. The test is done after the patient has had nothing to eat or drink for at least 8 hours. Other tumor types - VIPoma - Serum VIP (vasoactive intestinal peptide) test: A test in which a blood sample is checked to measure the amount of VIP. - Blood chemistry studies: A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. In VIPoma, there is a lower than normal amount of potassium. - Stool analysis : A stool sample is checked for a higher than normal sodium (salt) and potassium levels. - Somatostatinoma - Fasting serum somatostatin test: A test in which a blood sample is checked to measure the amount of somatostatin in the blood. The test is done after the patient has had nothing to eat or drink for at least 8 hours. - Somatostatin receptor scintigraphy: A type of radionuclide scan that may be used to find small pancreatic NETs. A small amount of radioactive octreotide (a hormone that attaches to tumors) is injected into a vein and travels through the blood. The radioactive octreotide attaches to the tumor and a special camera that detects radioactivity is used to show where the tumors are in the body. This procedure is also called octreotide scan and SRS.",CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +What is the outlook for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,Certain factors affect prognosis (chance of recovery) and treatment options. Pancreatic NETs can often be cured. The prognosis (chance of recovery) and treatment options depend on the following: - The type of cancer cell. - Where the tumor is found in the pancreas. - Whether the tumor has spread to more than one place in the pancreas or to other parts of the body. - Whether the patient has MEN1 syndrome. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +What are the stages of Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,"Key Points + - The plan for cancer treatment depends on where the NET is found in the pancreas and whether it has spread. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. + + + The plan for cancer treatment depends on where the NET is found in the pancreas and whether it has spread. + The process used to find out if cancer has spread within the pancreas or to other parts of the body is called staging. The results of the tests and procedures used to diagnose pancreatic neuroendocrine tumors (NETs) are also used to find out whether the cancer has spread. See the General Information section for a description of these tests and procedures. Although there is a standard staging system for pancreatic NETs, it is not used to plan treatment. Treatment of pancreatic NETs is based on the following: - Whether the cancer is found in one place in the pancreas. - Whether the cancer is found in several places in the pancreas. - Whether the cancer has spread to lymph nodes near the pancreas or to other parts of the body such as the liver, lung, peritoneum, or bone. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if a pancreatic neuroendocrine tumor spreads to the liver, the tumor cells in the liver are actually neuroendocrine tumor cells. The disease is metastatic pancreatic neuroendocrine tumor, not liver cancer.",CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +What are the treatments for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,"Key Points + - There are different types of treatment for patients with pancreatic NETs. - Six types of standard treatment are used: - Surgery - Chemotherapy - Hormone therapy - Hepatic arterial occlusion or chemoembolization - Targeted therapy - Supportive care - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with pancreatic NETs. + Different types of treatments are available for patients with pancreatic neuroendocrine tumors (NETs). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Six types of standard treatment are used: + Surgery An operation may be done to remove the tumor. One of the following types of surgery may be used: - Enucleation: Surgery to remove the tumor only. This may be done when cancer occurs in one place in the pancreas. - Pancreatoduodenectomy: A surgical procedure in which the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct are removed. Enough of the pancreas is left to make digestive juices and insulin. The organs removed during this procedure depend on the patient's condition. This is also called the Whipple procedure. - Distal pancreatectomy: Surgery to remove the body and tail of the pancreas. The spleen may also be removed. - Total gastrectomy: Surgery to remove the whole stomach. - Parietal cell vagotomy: Surgery to cut the nerve that causes stomach cells to make acid. - Liver resection: Surgery to remove part or all of the liver. - Radiofrequency ablation: The use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia. - Cryosurgical ablation: A procedure in which tissue is frozen to destroy abnormal cells. This is usually done with a special instrument that contains liquid nitrogen or liquid carbon dioxide. The instrument may be used during surgery or laparoscopy or inserted through the skin. This procedure is also called cryoablation. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of the cancer being treated. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. Hepatic arterial occlusion or chemoembolization Hepatic arterial occlusion uses drugs, small particles, or other agents to block or reduce the flow of blood to the liver through the hepatic artery (the major blood vessel that carries blood to the liver). This is done to kill cancer cells growing in the liver. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. Chemotherapy delivered during hepatic arterial occlusion is called chemoembolization. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with the substance that blocks the artery and cuts off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Certain types of targeted therapies are being studied in the treatment of pancreatic NETs. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care for pancreatic NETs may include treatment for the following: - Stomach ulcers may be treated with drug therapy such as: - Proton pump inhibitor drugs such as omeprazole, lansoprazole, or pantoprazole. - Histamine blocking drugs such as cimetidine, ranitidine, or famotidine. - Somatostatin-type drugs such as octreotide. - Diarrhea may be treated with: - Intravenous (IV) fluids with electrolytes such as potassium or chloride. - Somatostatin-type drugs such as octreotide. - Low blood sugar may be treated by having small, frequent meals or with drug therapy to maintain a normal blood sugar level. - High blood sugar may be treated with drugs taken by mouth or insulin by injection. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Pancreatic Neuroendocrine Tumors + + + Gastrinoma + Treatment of gastrinoma may include supportive care and the following: - For symptoms caused by too much stomach acid, treatment may be a drug that decreases the amount of acid made by the stomach. - For a single tumor in the head of the pancreas: - Surgery to remove the tumor. - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid. - Surgery to remove the whole stomach (rare). - For a single tumor in the body or tail of the pancreas, treatment is usually surgery to remove the body or tail of the pancreas. - For several tumors in the pancreas, treatment is usually surgery to remove the body or tail of the pancreas. If tumor remains after surgery, treatment may include either: - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid; or - Surgery to remove the whole stomach (rare). - For one or more tumors in the duodenum (the part of the small intestine that connects to the stomach), treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - If no tumor is found, treatment may include the following: - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid. - Surgery to remove the whole stomach (rare). - If the cancer has spread to the liver, treatment may include: - Surgery to remove part or all of the liver. - Radiofrequency ablation or cryosurgical ablation. - Chemoembolization. - If cancer has spread to other parts of the body or does not get better with surgery or drugs to decrease stomach acid, treatment may include: - Chemotherapy. - Hormone therapy. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with gastrinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Insulinoma + Treatment of insulinoma may include the following: - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor. - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - For one large tumor in the body or tail of the pancreas, treatment is usually a distal pancreatectomy (surgery to remove the body and tail of the pancreas). - For more than one tumor in the pancreas, treatment is usually surgery to remove any tumors in the head of the pancreas and the body and tail of the pancreas. - For tumors that cannot be removed by surgery, treatment may include the following: - Combination chemotherapy. - Palliative drug therapy to decrease the amount of insulin made by the pancreas. - Hormone therapy. - Radiofrequency ablation or cryosurgical ablation. - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the cancer. - Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with insulinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Glucagonoma + Treatment may include the following: - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor. - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct). - For more than one tumor in the pancreas, treatment is usually surgery to remove the tumor or surgery to remove the body and tail of the pancreas. - For tumors that cannot be removed by surgery, treatment may include the following: - Combination chemotherapy. - Hormone therapy. - Radiofrequency ablation or cryosurgical ablation. - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the cancer. - Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery. - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include: - Hepatic arterial occlusion, with or without systemic chemotherapy. - Chemoembolization, with or without systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with glucagonoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Other Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) + For VIPoma, treatment may include the following: - Fluids and hormone therapy to replace fluids and electrolytes that have been lost from the body. - Surgery to remove the tumor and nearby lymph nodes. - Surgery to remove as much of the tumor as possible when the tumor cannot be completely removed or has spread to distant parts of the body. This is palliative therapy to relieve symptoms and improve the quality of life. - For tumors that have spread to lymph nodes or other parts of the body, treatment may include the following: - Surgery to remove the tumor. - Radiofrequency ablation or cryosurgical ablation, if the tumor cannot be removed by surgery. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. For somatostatinoma, treatment may include the following: - Surgery to remove the tumor. - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible to relieve symptoms and improve quality of life. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. Treatment of other types of pancreatic neuroendocrine tumors (NETs) may include the following: - Surgery to remove the tumor. - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible or hormone therapy to relieve symptoms and improve quality of life. - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following: - Chemotherapy. - Targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with islet cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent or Progressive Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) + Treatment of pancreatic neuroendocrine tumors (NETs) that continue to grow during treatment or recur (come back) may include the following: - Surgery to remove the tumor. - Chemotherapy. - Hormone therapy. - Targeted therapy. - For liver metastases: - Regional chemotherapy. - Hepatic arterial occlusion or chemoembolization, with or without systemic chemotherapy. - A clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent islet cell carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +what research (or clinical trials) is being done for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) +"What is (are) Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. - Ovarian cancer is the leading cause of death from cancer of the female reproductive system. + + + Ovarian, fallopian tube, and primary peritoneal cancers are diseases in which malignant (cancer) cells form in the ovaries, fallopian tubes, or peritoneum. + The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones (chemicals that control the way certain cells or organs work in the body). The fallopian tubes are a pair of long, slender tubes, one on each side of the uterus. Eggs pass from the ovaries, through the fallopian tubes, to the uterus. Cancer sometimes begins at the end of the fallopian tube near the ovary and spreads to the ovary. The peritoneum is the tissue that lines the abdominal wall and covers organs in the abdomen. Primary peritoneal cancer is cancer that forms in the peritoneum and has not spread there from another part of the body. Cancer sometimes begins in the peritoneum and spreads to the ovary. + + + Ovarian cancer is the leading cause of death from cancer of the female reproductive system. + In recent years, there has been a small decrease in the number of new cases of ovarian cancer and the number of deaths from ovarian cancer. New cases of ovarian cancer and deaths from ovarian cancer are higher among white women than black women, but have decreased in both groups. Women who have a family history of ovarian cancer and/or certain inherited gene changes, such as BRCA1 or BRCA2 gene changes, have a higher risk than women who do not have a family history or who have not inherited these gene changes. For women with inherited risk, genetic counseling and genetic testing can be used to find out more about how likely they are to develop ovarian cancer. It is hard to find ovarian cancer early. Early ovarian cancer may not cause any symptoms. When symptoms do appear, ovarian cancer is often advanced. See the following PDQ summaries for more information about ovarian, fallopian tube, and primary peritoneal cancers: - Genetics of Breast and Gynecologic Cancers (written for health professionals) - Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Screening - Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +"How to prevent Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ?","Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for ovarian, fallopian tube, and primary peritoneal cancer: - Family history of ovarian, fallopian tube, and primary peritoneal cancer - Inherited risk - Hormone replacement therapy - Weight and height - The following are protective factors for ovarian, fallopian tube, and primary peritoneal cancer: - Oral contraceptives - Tubal ligation - Breastfeeding - Risk-reducing salpingo-oophorectomy - It is not clear whether the following affect the risk of ovarian, fallopian tube, and primary peritoneal cancer: - Diet - Alcohol - Aspirin and non-steroidal anti-inflammatory drugs - Smoking - Talc - Infertility treatment - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent ovarian, fallopian tube, and primary peritoneal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following are risk factors for ovarian, fallopian tube, and primary peritoneal cancer: + Family history of ovarian, fallopian tube, and primary peritoneal cancer A woman whose mother or sister had ovarian cancer has an increased risk of ovarian cancer. A woman with two or more relatives with ovarian cancer also has an increased risk of ovarian cancer. Inherited risk The risk of ovarian cancer is increased in women who have inherited certain changes in the BRCA1, BRCA2, or other genes. The risk of ovarian cancer is also increased in women who have certain inherited syndromes that include: - Familial site-specific ovarian cancer syndrome. - Familial breast/ovarian cancer syndrome. - Hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome). Hormone replacement therapy The use of estrogen -only hormone replacement therapy (HRT) after menopause is linked to a slightly increased risk of ovarian cancer in women who are taking HRT or have taken HRT within the past 3 years. The risk of ovarian cancer increases the longer a woman uses estrogen-only HRT. When hormone therapy is stopped, the risk of ovarian cancer decreases over time. It is not clear whether there is an increased risk of ovarian cancer with the use of HRT that has both estrogen and progestin. Weight and height Being overweight or obese during the teenage years is linked to an increased risk of ovarian cancer. Being obese is linked to an increased risk of death from ovarian cancer. Being tall (5'8"" or taller) may also be linked to a slight increase in the risk of ovarian cancer. + + + The following are protective factors for ovarian, fallopian tube, and primary peritoneal cancer: + Oral contraceptives Taking oral contraceptives (the pill) lowers the risk of ovarian cancer. The longer oral contraceptives are used, the lower the risk may be. The decrease in risk may last up to 30 years after a woman has stopped taking oral contraceptives. Taking oral contraceptives increases the risk of blood clots. This risk is higher in women who also smoke. Tubal ligation The risk of ovarian cancer is decreased in women who have a tubal ligation (surgery to close both fallopian tubes). Breastfeeding Breastfeeding is linked to a decreased risk of ovarian cancer. The longer a woman breastfeeds, the lower her risk of ovarian cancer. Risk-reducing salpingo-oophorectomy Some women who have a high risk of ovarian cancer may choose to have a risk-reducing salpingo-oophorectomy (surgery to remove the fallopian tubes and ovaries when there are no signs of cancer). This includes women who have inherited certain changes in the BRCA1 and BRCA2 genes or have an inherited syndrome. (See the Risk-reducing salpingo-oophorectomy section in the PDQ health professional summary on Genetics of Breast and Gynecologic Cancers for more information.) It is very important to have a cancer risk assessment and counseling before making this decision. These and other factors may be discussed: - Infertility. - Early menopause: The drop in estrogen levels caused by removing the ovaries can cause early menopause. Symptoms of menopause include the following: - Hot flashes. - Night sweats. - Trouble sleeping. - Mood changes. - Decreased sex drive. - Heart disease. - Vaginal dryness. - Frequent urination. - Osteoporosis (decreased bone density). These symptoms may not be the same in all women. Hormone replacement therapy (HRT) may be used to lessen these symptoms. - Risk of ovarian cancer in the peritoneum: Women who have had a risk-reducing salpingo-oophorectomy continue to have a small risk of ovarian cancer in the peritoneum (thin layer of tissue that lines the inside of the abdomen). This may occur if ovarian cancer cells had already spread to the peritoneum before the surgery or if some ovarian tissue remains after surgery. + + + It is not clear whether the following affect the risk of ovarian, fallopian tube, and primary peritoneal cancer: + Diet Studies of dietary factors including various foods, teas, and nutrients have not found a strong link to ovarian cancer. Alcohol Studies have not shown a link between drinking alcohol and the risk of ovarian cancer. Aspirin and non-steroidal anti-inflammatory drugs Some studies of aspirin and non-steroidal anti-inflammatory drugs (NSAIDs) have found a decreased risk of ovarian cancer and others have not. Smoking Some studies found a very small increased risk of one rare type of ovarian cancer in women who were current smokers compared with women who never smoked. Talc Studies of women who used talcum powder (talc) dusted on the perineum (the area between the vagina and the anus) have not found clear evidence of an increased risk of ovarian cancer. Infertility treatment Overall, studies in women using fertility drugs have not found clear evidence of an increased risk of ovarian cancer. Risk of ovarian borderline malignant tumors may be higher in women who take fertility drugs. The risk of invasive ovarian cancer may be higher in women who do not get pregnant after taking fertility drugs. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent ovarian, fallopian tube, and primary peritoneal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for ovarian cancer prevention trials that are now accepting patients.",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +"Who is at risk for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer? ?","Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for ovarian, fallopian tube, and primary peritoneal cancer: - Family history of ovarian, fallopian tube, and primary peritoneal cancer - Inherited risk - Hormone replacement therapy - Weight and height - The following are protective factors for ovarian, fallopian tube, and primary peritoneal cancer: - Oral contraceptives - Tubal ligation - Breastfeeding - Risk-reducing salpingo-oophorectomy - It is not clear whether the following affect the risk of ovarian, fallopian tube, and primary peritoneal cancer: - Diet - Alcohol - Aspirin and non-steroidal anti-inflammatory drugs - Smoking - Talc - Infertility treatment - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent ovarian, fallopian tube, and primary peritoneal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following are risk factors for ovarian, fallopian tube, and primary peritoneal cancer: + Family history of ovarian, fallopian tube, and primary peritoneal cancer A woman whose mother or sister had ovarian cancer has an increased risk of ovarian cancer. A woman with two or more relatives with ovarian cancer also has an increased risk of ovarian cancer. Inherited risk The risk of ovarian cancer is increased in women who have inherited certain changes in the BRCA1, BRCA2, or other genes. The risk of ovarian cancer is also increased in women who have certain inherited syndromes that include: - Familial site-specific ovarian cancer syndrome. - Familial breast/ovarian cancer syndrome. - Hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome). Hormone replacement therapy The use of estrogen -only hormone replacement therapy (HRT) after menopause is linked to a slightly increased risk of ovarian cancer in women who are taking HRT or have taken HRT within the past 3 years. The risk of ovarian cancer increases the longer a woman uses estrogen-only HRT. When hormone therapy is stopped, the risk of ovarian cancer decreases over time. It is not clear whether there is an increased risk of ovarian cancer with the use of HRT that has both estrogen and progestin. Weight and height Being overweight or obese during the teenage years is linked to an increased risk of ovarian cancer. Being obese is linked to an increased risk of death from ovarian cancer. Being tall (5'8"" or taller) may also be linked to a slight increase in the risk of ovarian cancer. + + + It is not clear whether the following affect the risk of ovarian, fallopian tube, and primary peritoneal cancer: + Diet Studies of dietary factors including various foods, teas, and nutrients have not found a strong link to ovarian cancer. Alcohol Studies have not shown a link between drinking alcohol and the risk of ovarian cancer. Aspirin and non-steroidal anti-inflammatory drugs Some studies of aspirin and non-steroidal anti-inflammatory drugs (NSAIDs) have found a decreased risk of ovarian cancer and others have not. Smoking Some studies found a very small increased risk of one rare type of ovarian cancer in women who were current smokers compared with women who never smoked. Talc Studies of women who used talcum powder (talc) dusted on the perineum (the area between the vagina and the anus) have not found clear evidence of an increased risk of ovarian cancer. Infertility treatment Overall, studies in women using fertility drugs have not found clear evidence of an increased risk of ovarian cancer. Risk of ovarian borderline malignant tumors may be higher in women who take fertility drugs. The risk of invasive ovarian cancer may be higher in women who do not get pregnant after taking fertility drugs.",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +"what research (or clinical trials) is being done for Ovarian, Fallopian Tube, and Primary Peritoneal Cancer ?","Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent ovarian, fallopian tube, and primary peritoneal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for ovarian cancer prevention trials that are now accepting patients.",CancerGov,"Ovarian, Fallopian Tube, and Primary Peritoneal Cancer" +What is (are) Laryngeal Cancer ?,"Key Points + - Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer. - Signs and symptoms of laryngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. + The larynx is a part of the throat, between the base of the tongue and the trachea. The larynx contains the vocal cords, which vibrate and make sound when air is directed against them. The sound echoes through the pharynx, mouth, and nose to make a person's voice. There are three main parts of the larynx: - Supraglottis: The upper part of the larynx above the vocal cords, including the epiglottis. - Glottis: The middle part of the larynx where the vocal cords are located. - Subglottis: The lower part of the larynx between the vocal cords and the trachea (windpipe). Most laryngeal cancers form in squamous cells, the thin, flat cells lining the inside of the larynx. Laryngeal cancer is a type of head and neck cancer.",CancerGov,Laryngeal Cancer +Who is at risk for Laryngeal Cancer? ?,Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk.,CancerGov,Laryngeal Cancer +What are the symptoms of Laryngeal Cancer ?,Signs and symptoms of laryngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by laryngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat or cough that does not go away. - Trouble or pain when swallowing. - Ear pain. - A lump in the neck or throat. - A change or hoarseness in the voice.,CancerGov,Laryngeal Cancer +How to diagnose Laryngeal Cancer ?,"Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer.The following tests and procedures may be used: - Physical exam of the throat and neck: An exam to check the throat and neck for abnormal areas. The doctor will feel the inside of the mouth with a gloved finger and examine the mouth and throat with a small long-handled mirror and light. This will include checking the insides of the cheeks and lips; the gums; the back, roof, and floor of the mouth; the top, bottom, and sides of the tongue; and the throat. The neck will be felt for swollen lymph nodes. A history of the patients health habits and past illnesses and medical treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The sample of tissue may be removed during one of the following procedures: - Laryngoscopy : A procedure to look at the larynx (voice box) for abnormal areas. A mirror or a laryngoscope (a thin, tube-like instrument with a light and a lens for viewing) is inserted through the mouth to see the larynx. A special tool on the laryngoscope may be used to remove samples of tissue. - Endoscopy : A procedure to look at organs and tissues inside the body, such as the throat, esophagus, and trachea to check for abnormal areas. An endoscope (a thin, lighted tube with a light and a lens for viewing) is inserted through an opening in the body, such as the mouth. A special tool on the endoscope may be used to remove samples of tissue. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - Barium swallow : A series of x-rays of the esophagus and stomach. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and stomach, and x-rays are taken. This procedure is also called an upper GI series.",CancerGov,Laryngeal Cancer +What is the outlook for Laryngeal Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the disease. - The location and size of the tumor. - The grade of the tumor. - The patient's age, gender, and general health, including whether the patient is anemic. Treatment options depend on the following: - The stage of the disease. - The location and size of the tumor. - Keeping the patient's ability to talk, eat, and breathe as normal as possible. - Whether the cancer has come back (recurred). Smoking tobacco and drinking alcohol decrease the effectiveness of treatment for laryngeal cancer. Patients with laryngeal cancer who continue to smoke and drink are less likely to be cured and more likely to develop a second tumor. After treatment for laryngeal cancer, frequent and careful follow-up is important.",CancerGov,Laryngeal Cancer +What are the stages of Laryngeal Cancer ?,"Key Points + - After laryngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the larynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for laryngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After laryngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the larynx or to other parts of the body. + The process used to find out if cancer has spread within the larynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of some of the tests used to diagnose laryngeal cancer are often also used to stage the disease. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if laryngeal cancer spreads to the lung, the cancer cells in the lung are actually laryngeal cancer cells. The disease is metastatic laryngeal cancer, not lung cancer. + + + The following stages are used for laryngeal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the larynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed. Stage I laryngeal cancer depends on where cancer began in the larynx: - Supraglottis: Cancer is in one area of the supraglottis only and the vocal cords can move normally. - Glottis: Cancer is in one or both vocal cords and the vocal cords can move normally. - Subglottis: Cancer is in the subglottis only. Stage II In stage II, cancer is in the larynx only. Stage II laryngeal cancer depends on where cancer began in the larynx: - Supraglottis: Cancer is in more than one area of the supraglottis or surrounding tissues. - Glottis: Cancer has spread to the supraglottis and/or the subglottis and/or the vocal cords cannot move normally. - Subglottis: Cancer has spread to one or both vocal cords, which may not move normally. Stage III Stage III laryngeal cancer depends on whether cancer has spread from the supraglottis, glottis, or subglottis. In stage III cancer of the supraglottis: - cancer is in the larynx only and the vocal cords cannot move, and/or cancer is in tissues next to the larynx. Cancer may have spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller; or - cancer is in one area of the supraglottis and in one lymph node on the same side of the neck as the original tumor; the lymph node is 3 centimeters or smaller and the vocal cords can move normally; or - cancer is in more than one area of the supraglottis or surrounding tissues and in one lymph node on the same side of the neck as the original tumor; the lymph node is 3 centimeters or smaller. In stage III cancer of the glottis: - cancer is in the larynx only and the vocal cords cannot move, and/or cancer is in tissues next to the larynx; cancer may have spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller; or - cancer is in one or both vocal cords and in one lymph node on the same side of the neck as the original tumor; the lymph node is 3 centimeters or smaller and the vocal cords can move normally; or - cancer has spread to the supraglottis and/or the subglottis and/or the vocal cords cannot move normally. Cancer has also spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller. In stage III cancer of the subglottis: - cancer is in the larynx and the vocal cords cannot move; cancer may have spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller; or - cancer is in the subglottis and in one lymph node on the same side of the neck as the original tumor; the lymph node is 3 centimeters or smaller; or - cancer has spread to one or both vocal cords, which may not move normally. Cancer has also spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller. Stage IV Stage IV is divided into stage IVA, stage IVB, and stage IVC. Each substage is the same for cancer in the supraglottis, glottis, or subglottis. - In stage IVA: - cancer has spread through the thyroid cartilage and/or has spread to tissues beyond the larynx such as the neck, trachea, thyroid, or esophagus. Cancer may have spread to one lymph node on the same side of the neck as the original tumor and the lymph node is 3 centimeters or smaller; or - cancer has spread to one lymph node on the same side of the neck as the original tumor and the lymph node is larger than 3 centimeters but not larger than 6 centimeters, or has spread to more than one lymph node anywhere in the neck with none larger than 6 centimeters. Cancer may have spread to tissues beyond the larynx, such as the neck, trachea, thyroid, or esophagus. The vocal cords may not move normally. - In stage IVB: - cancer has spread to the space in front of the spinal column, surrounds the carotid artery, or has spread to parts of the chest. Cancer may have spread to one or more lymph nodes anywhere in the neck and the lymph nodes may be any size; or - cancer has spread to a lymph node that is larger than 6 centimeters and may have spread as far as the space in front of the spinal column, around the carotid artery, or to parts of the chest. The vocal cords may not move normally. - In stage IVC, cancer has spread to other parts of the body, such as the lungs, liver, or bone.",CancerGov,Laryngeal Cancer +What are the treatments for Laryngeal Cancer ?,"Key Points + - There are different types of treatment for patients with laryngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. - Chemoprevention - Radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with laryngeal cancer. + Different types of treatment are available for patients with laryngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells. There are two types of radiation therapy. External radiation therapy uses a machine outside the body to send radiation toward the cancer. Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. Radiation therapy may work better in patients who have stopped smoking before beginning treatment. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. The doctor may test the thyroid gland before and after therapy to make sure it is working properly. Hyperfractionated radiation therapy and new types of radiation therapy are being studied in the treatment of laryngeal cancer. Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of laryngeal cancer. The following surgical procedures may be used: - Cordectomy: Surgery to remove the vocal cords only. - Supraglottic laryngectomy: Surgery to remove the supraglottis only. - Hemilaryngectomy: Surgery to remove half of the larynx (voice box). A hemilaryngectomy saves the voice. - Partial laryngectomy: Surgery to remove part of the larynx (voice box). A partial laryngectomy helps keep the patient's ability to talk. - Total laryngectomy: Surgery to remove the whole larynx. During this operation, a hole is made in the front of the neck to allow the patient to breathe. This is called a tracheostomy. - Thyroidectomy: The removal of all or part of the thyroid gland. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Head and Neck Cancer for more information. (Laryngeal cancer is a type of head and neck cancer.) + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of developing cancer or to reduce the risk cancer will recur (come back). The drug isotretinoin is being studied to prevent the development of a second cancer in patients who have had cancer of the head or neck. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Laryngeal Cancer + Treatment of stage I laryngeal cancer depends on where cancer is found in the larynx. If cancer is in the supraglottis, treatment may include the following: - Radiation therapy. - Supraglottic laryngectomy. If cancer is in the glottis, treatment may include the following: - Radiation therapy. - Cordectomy. - Partial laryngectomy, hemilaryngectomy, or total laryngectomy. - Laser surgery. If cancer is in the subglottis, treatment may include the following: - Radiation therapy with or without surgery. - Surgery alone. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I laryngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Laryngeal Cancer + Treatment of stage II laryngeal cancer depends on where cancer is found in the larynx. If cancer is in the supraglottis, treatment may include the following: - Radiation therapy - Supraglottic laryngectomy or total laryngectomy with or without radiation therapy. - A clinical trial of radiation therapy. - A clinical trial of chemoprevention. If cancer is in the glottis, treatment may include the following: - Radiation therapy. - Partial laryngectomy, hemilaryngectomy, or total laryngectomy. - Laser surgery. - A clinical trial of radiation therapy. - A clinical trial of chemoprevention. If cancer is in the subglottis, treatment may include the following: - Radiation therapy with or without surgery. - Surgery alone. - A clinical trial of radiation therapy. - A clinical trial of chemoprevention. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II laryngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Laryngeal Cancer + Treatment of stage III laryngeal cancer depends on where cancer is found in the larynx. If cancer is in the supraglottis or glottis, treatment may include the following: - Chemotherapy and radiation therapy given together. - Chemotherapy followed by chemotherapy and radiation therapy given together. Laryngectomy may be done if cancer remains. - Radiation therapy for patients who cannot be treated with chemotherapy and surgery.For tumors that do not respond to radiation, total laryngectomy may be done. - Surgery, which may be followed by radiation therapy. - A clinical trial of radiation therapy. - A clinical trial of chemotherapy, radiosensitizers, or radiation therapy. - A clinical trial of chemoprevention. If cancer is in the subglottis, treatment may include the following: - Laryngectomy plus total thyroidectomy and removal of lymph nodes in the throat, usually followed by radiation therapy. - Radiation therapy with or without surgery. - A clinical trial of chemotherapy, radiosensitizers, or radiation therapy. - A clinical trial of chemoprevention. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III laryngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Laryngeal Cancer + Treatment of stage IV laryngeal cancer depends on where cancer is found in the larynx. If cancer is in the supraglottis or glottis, treatment may include the following: - Chemotherapy and radiation therapy given together. - Chemotherapy followed by chemotherapy and radiation therapy given together. Laryngectomy may be done if cancer remains. - Radiation therapy for patients who cannot be treated with chemotherapy and surgery. For tumors that do not respond to radiation, total laryngectomy may be done. - Surgery followed by radiation therapy. Chemotherapy may be given with the radiation therapy. - A clinical trial of radiation therapy. - A clinical trial of chemotherapy, radiosensitizers, or radiation therapy. - A clinical trial of chemoprevention. If cancer is in the subglottis, treatment may include the following: - Laryngectomy plus total thyroidectomy and removal of lymph nodes in the throat, usually with radiation therapy. - Radiation therapy. - A clinical trial of radiation therapy. - A clinical trial of chemotherapy, radiosensitizers, or radiation therapy. - A clinical trial of chemoprevention. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV laryngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Laryngeal Cancer +what research (or clinical trials) is being done for Laryngeal Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of developing cancer or to reduce the risk cancer will recur (come back). The drug isotretinoin is being studied to prevent the development of a second cancer in patients who have had cancer of the head or neck. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Laryngeal Cancer +What is (are) Colorectal Cancer ?,"Key Points + - Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. - Colorectal cancer is the second leading cause of death from cancer in the United States. + + + Colorectal cancer is a disease in which malignant (cancer) cells form in the tissues of the colon or the rectum. + The colon is part of the body's digestive system. The digestive system removes and processes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from foods and helps pass waste material out of the body. The digestive system is made up of the mouth, throat, esophagus, stomach, and the small and large intestines. The colon (large bowel) is the first part of the large intestine and is about 5 feet long. Together, the rectum and anal canal make up the last part of the large intestine and are 6 to 8 inches long. The anal canal ends at the anus (the opening of the large intestine to the outside of the body). Cancer that begins in the colon is called colon cancer, and cancer that begins in the rectum is called rectal cancer. Cancer that affects either of these organs may also be called colorectal cancer. See the following PDQ summaries for more information about colorectal cancer: - Colorectal Cancer Screening - Colon Cancer Treatment - Rectal Cancer Treatment - Genetics of Colorectal Cancer + + + Colorectal cancer is the second leading cause of death from cancer in the United States. + The number of new colorectal cancer cases and the number of deaths from colorectal cancer are both decreasing a little bit each year. However, in adults younger than 50 years, the number of new colorectal cancer cases has slowly increased since 1998. The number of new colorectal cancers and deaths from colorectal cancer are higher in African Americans than in other races. Finding and treating colorectal cancer early may prevent death from colorectal cancer. Screening tests may be used to help find colorectal cancer.",CancerGov,Colorectal Cancer +How to prevent Colorectal Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of colorectal cancer: - Age - Family history of colorectal cancer - Personal history - Inherited risk - Alcohol - Cigarette smoking - Obesity - The following protective factors decrease the risk of colorectal cancer: - Physical activity - Aspirin - Combination hormone replacement therapy - Polyp removal - It is not clear if the following affect the risk of colorectal cancer: - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin - Calcium - Diet - The following factors do not affect the risk of colorectal cancer: - Hormone replacement therapy with estrogen only - Statins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent colorectal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors increase the risk of colorectal cancer: + Age The risk of colorectal cancer increases after age 50. Most cases of colorectal cancer are diagnosed after age 50. Family history of colorectal cancer Having a parent, brother, sister, or child with colorectal cancer doubles a person's risk of colorectal cancer. Personal history Having a personal history of the following conditions increases the risk of colorectal cancer: - Previous colorectal cancer. - High-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Ovarian cancer. - Inflammatory bowel disease (such as ulcerative colitis or Crohn disease). Inherited risk The risk of colorectal cancer is increased when certain gene changes linked to familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC or Lynch Syndrome) are inherited. Alcohol Drinking 3 or more alcoholic beverages per day increases the risk of colorectal cancer. Drinking alcohol is also linked to the risk of forming large colorectal adenomas (benign tumors). Cigarette smoking Cigarette smoking is linked to an increased risk of colorectal cancer and death from colorectal cancer. Smoking cigarettes is also linked to an increased risk of forming colorectal adenomas. Cigarette smokers who have had surgery to remove colorectal adenomas are at an increased risk for the adenomas to recur (come back). Obesity Obesity is linked to an increased risk of colorectal cancer and death from colorectal cancer. + + + The following protective factors decrease the risk of colorectal cancer: + Physical activity A lifestyle that includes regular physical activity is linked to a decreased risk of colorectal cancer. Aspirin Studies have shown that taking aspirin lowers the risk of colorectal cancer and the risk of death from colorectal cancer. The decrease in risk begins 10 to 20 years after patients start taking aspirin. The possible harms of aspirin use (100 mg or less) daily or every other day include an increased risk of stroke and bleeding in the stomach and intestines. These risks may be greater among the elderly, men, and those with conditions linked to a higher than normal risk of bleeding. Combination hormone replacement therapy Studies have shown that combination hormone replacement therapy (HRT) that includes both estrogen and progestin lowers the risk of invasive colorectal cancer in postmenopausal women. However, in women who take combination HRT and do develop colorectal cancer, the cancer is more likely to be advanced when it is diagnosed and the risk of dying from colorectal cancer is not decreased. The possible harms of combination HRT include an increased risk of having: - Breast cancer. - Heart disease. - Blood clots. Polyp removal Most colorectal polyps are adenomas, which may develop into cancer. Removing colorectal polyps that are larger than 1 centimeter (pea-sized) may lower the risk of colorectal cancer. It is not known if removing smaller polyps lowers the risk of colorectal cancer. The possible harms of polyp removal during colonoscopy or sigmoidoscopy include a tear in the wall of the colon and bleeding. + + + It is not clear if the following affect the risk of colorectal cancer: + Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin It is not known if the use of nonsteroidal anti-inflammatory drugs or NSAIDs (such as sulindac, celecoxib, naproxen, and ibuprofen) lowers the risk of colorectal cancer. Studies have shown that taking the nonsteroidal anti-inflammatory drug celecoxib reduces the risk of colorectal adenomas (benign tumors) coming back after they have been removed. It is not clear if this results in a lower risk of colorectal cancer. Taking sulindac or celecoxib has been shown to reduce the number and size of polyps that form in the colon and rectum of people with familial adenomatous polyposis (FAP). It is not clear if this results in a lower risk of colorectal cancer. The possible harms of NSAIDs include: - Kidney problems. - Bleeding in the stomach, intestines, or brain. - Heart problems such as heart attack and congestive heart failure. Calcium It is not known if taking calcium supplements lowers the risk of colorectal cancer. Diet It is not known if a diet low in fat and meat and high in fiber, fruits, and vegetables lowers the risk of colorectal cancer. Some studies have shown that a diet high in fat, proteins, calories, and meat increases the risk of colorectal cancer, but other studies have not. + + + The following factors do not affect the risk of colorectal cancer: + Hormone replacement therapy with estrogen only Hormone replacement therapy with estrogen only does not lower the risk of having invasive colorectal cancer or the risk of dying from colorectal cancer. Statins Studies have shown that taking statins (drugs that lower cholesterol) does not increase or decrease the risk of colorectal cancer. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent colorectal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.",CancerGov,Colorectal Cancer +Who is at risk for Colorectal Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of colorectal cancer: - Age - Family history of colorectal cancer - Personal history - Inherited risk - Alcohol - Cigarette smoking - Obesity - The following protective factors decrease the risk of colorectal cancer: - Physical activity - Aspirin - Combination hormone replacement therapy - Polyp removal - It is not clear if the following affect the risk of colorectal cancer: - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin - Calcium - Diet - The following factors do not affect the risk of colorectal cancer: - Hormone replacement therapy with estrogen only - Statins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent colorectal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors increase the risk of colorectal cancer: + Age The risk of colorectal cancer increases after age 50. Most cases of colorectal cancer are diagnosed after age 50. Family history of colorectal cancer Having a parent, brother, sister, or child with colorectal cancer doubles a person's risk of colorectal cancer. Personal history Having a personal history of the following conditions increases the risk of colorectal cancer: - Previous colorectal cancer. - High-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Ovarian cancer. - Inflammatory bowel disease (such as ulcerative colitis or Crohn disease). Inherited risk The risk of colorectal cancer is increased when certain gene changes linked to familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC or Lynch Syndrome) are inherited. Alcohol Drinking 3 or more alcoholic beverages per day increases the risk of colorectal cancer. Drinking alcohol is also linked to the risk of forming large colorectal adenomas (benign tumors). Cigarette smoking Cigarette smoking is linked to an increased risk of colorectal cancer and death from colorectal cancer. Smoking cigarettes is also linked to an increased risk of forming colorectal adenomas. Cigarette smokers who have had surgery to remove colorectal adenomas are at an increased risk for the adenomas to recur (come back). Obesity Obesity is linked to an increased risk of colorectal cancer and death from colorectal cancer. + + + It is not clear if the following affect the risk of colorectal cancer: + Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin It is not known if the use of nonsteroidal anti-inflammatory drugs or NSAIDs (such as sulindac, celecoxib, naproxen, and ibuprofen) lowers the risk of colorectal cancer. Studies have shown that taking the nonsteroidal anti-inflammatory drug celecoxib reduces the risk of colorectal adenomas (benign tumors) coming back after they have been removed. It is not clear if this results in a lower risk of colorectal cancer. Taking sulindac or celecoxib has been shown to reduce the number and size of polyps that form in the colon and rectum of people with familial adenomatous polyposis (FAP). It is not clear if this results in a lower risk of colorectal cancer. The possible harms of NSAIDs include: - Kidney problems. - Bleeding in the stomach, intestines, or brain. - Heart problems such as heart attack and congestive heart failure. Calcium It is not known if taking calcium supplements lowers the risk of colorectal cancer. Diet It is not known if a diet low in fat and meat and high in fiber, fruits, and vegetables lowers the risk of colorectal cancer. Some studies have shown that a diet high in fat, proteins, calories, and meat increases the risk of colorectal cancer, but other studies have not. + + + The following factors do not affect the risk of colorectal cancer: + Hormone replacement therapy with estrogen only Hormone replacement therapy with estrogen only does not lower the risk of having invasive colorectal cancer or the risk of dying from colorectal cancer. Statins Studies have shown that taking statins (drugs that lower cholesterol) does not increase or decrease the risk of colorectal cancer.",CancerGov,Colorectal Cancer +what research (or clinical trials) is being done for Colorectal Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent colorectal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.",CancerGov,Colorectal Cancer +What is (are) Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"Key Points + - Plasma cell neoplasms are diseases in which the body makes too many plasma cells. - Plasma cell neoplasms can be benign (not cancer) or malignant (cancer). - There are several types of plasma cell neoplasms. - Monoclonal gammopathy of undetermined significance (MGUS) - Plasmacytoma - Multiple myeloma - Multiple myeloma and other plasma cell neoplasms may cause a condition called amyloidosis. - Age can affect the risk of plasma cell neoplasms. - Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Plasma cell neoplasms are diseases in which the body makes too many plasma cells. + Plasma cells develop from B lymphocytes (B cells), a type of white blood cell that is made in the bone marrow. Normally, when bacteria or viruses enter the body, some of the B cells will change into plasma cells. The plasma cells make antibodies to fight bacteria and viruses, to stop infection and disease. Plasma cell neoplasms are diseases in which abnormal plasma cells or myeloma cells form tumors in the bones or soft tissues of the body. The plasma cells also make an antibody protein, called M protein, that is not needed by the body and does not help fight infection. These antibody proteins build up in the bone marrow and can cause the blood to thicken or can damage the kidneys. + + + Plasma cell neoplasms can be benign (not cancer) or malignant (cancer). + Monoclonal gammopathy of undetermined significance (MGUS) is not cancer but can become cancer. The following types of plasma cell neoplasms are cancer: - Lymphoplasmacytic lymphoma. (See Adult Non-Hodgkin Lymphoma Treatment for more information.) - Plasmacytoma. - Multiple myeloma. + + + There are several types of plasma cell neoplasms. + Plasma cell neoplasms include the following: Monoclonal gammopathy of undetermined significance (MGUS) In this type of plasma cell neoplasm, less than 10% of the bone marrow is made up of abnormal plasma cells and there is no cancer. The abnormal plasma cells make M protein, which is sometimes found during a routine blood or urine test. In most patients, the amount of M protein stays the same and there are no signs, symptoms, or health problems. In some patients, MGUS may later become a more serious condition, such as amyloidosis, or cause problems with the kidneys, heart, or nerves. MGUS can also become cancer, such as multiple myeloma, lymphoplasmacytic lymphoma, or chronic lymphocytic leukemia. Plasmacytoma In this type of plasma cell neoplasm, the abnormal plasma cells (myeloma cells) are in one place and form one tumor, called a plasmacytoma. Sometimes plasmacytoma can be cured. There are two types of plasmacytoma. - In isolated plasmacytoma of bone, one plasma cell tumor is found in the bone, less than 10% of the bone marrow is made up of plasma cells, and there are no other signs of cancer. Plasmacytoma of the bone often becomes multiple myeloma. - In extramedullary plasmacytoma, one plasma cell tumor is found in soft tissue but not in the bone or the bone marrow. Extramedullary plasmacytomas commonly form in tissues of the throat, tonsil, and paranasal sinuses. Signs and symptoms depend on where the tumor is. - In bone, the plasmacytoma may cause pain or broken bones. - In soft tissue, the tumor may press on nearby areas and cause pain or other problems. For example, a plasmacytoma in the throat can make it hard to swallow. Multiple myeloma In multiple myeloma, abnormal plasma cells (myeloma cells) build up in the bone marrow and form tumors in many bones of the body. These tumors may keep the bone marrow from making enough healthy blood cells. Normally, the bone marrow makes stem cells (immature cells) that become three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to help prevent bleeding. As the number of myeloma cells increases, fewer red blood cells, white blood cells, and platelets are made. The myeloma cells also damage and weaken the bone. Sometimes multiple myeloma does not cause any signs or symptoms. This is called smoldering multiple myeloma. It may be found when a blood or urine test is done for another condition. Signs and symptoms may be caused by multiple myeloma or other conditions. Check with your doctor if you have any of the following: - Bone pain, especially in the back or ribs. - Bones that break easily. - Fever for no known reason or frequent infections. - Easy bruising or bleeding. - Trouble breathing. - Weakness of the arms or legs. - Feeling very tired. A tumor can damage the bone and cause hypercalcemia (too much calcium in the blood). This can affect many organs in the body, including the kidneys, nerves, heart, muscles, and digestive tract, and cause serious health problems. Hypercalcemia may cause the following signs and symptoms: - Loss of appetite. - Nausea or vomiting. - Feeling thirsty. - Frequent urination. - Constipation. - Feeling very tired. - Muscle weakness. - Restlessness. - Confusion or trouble thinking. + + + Multiple myeloma and other plasma cell neoplasms may cause a condition called amyloidosis. + In rare cases, multiple myeloma can cause peripheral nerves (nerves that are not in the brain or spinal cord) and organs to fail. This may be caused by a condition called amyloidosis. Antibody proteins build up and stick together in peripheral nerves and organs, such as the kidney and heart. This can cause the nerves and organs to become stiff and unable to work the way they should. Amyloidosis may cause the following signs and symptoms: - Feeling very tired. - Purple spots on the skin. - Enlarged tongue. - Diarrhea. - Swelling caused by fluid in your body's tissues. - Tingling or numbness in your legs and feet.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +Who is at risk for Plasma Cell Neoplasms (Including Multiple Myeloma)? ?,"Age can affect the risk of plasma cell neoplasms. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Plasma cell neoplasms are most common in people who are middle aged or older. For multiple myeloma and plasmacytoma, other risk factors include the following: - Being black. - Being male. - Having a personal history of MGUS or plasmacytoma. - Being exposed to radiation or certain chemicals.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +How to diagnose Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood and urine immunoglobulin studies: A procedure in which a blood or urine sample is checked to measure the amounts of certain antibodies (immunoglobulins). For multiple myeloma, beta-2-microglobulin, M protein, free light chains, and other proteins made by the myeloma cells are measured. A higher-than-normal amount of these substances can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following test may be done on the sample of tissue removed during the bone marrow aspiration and biopsy: - Cytogenetic analysis : A test in which cells in a sample of bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH) and flow cytometry, may also be done to look for certain changes in the chromosomes. - Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as calcium or albumin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of protein may be a sign of multiple myeloma. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the spine and pelvis may be used to find areas where the bone is damaged. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the spine, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body, such as the spine, than either scan gives by itself.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +What is the outlook for Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The type of plasma cell neoplasm. - The stage of the disease. - Whether a certain immunoglobulin (antibody) is present. - Whether there are certain genetic changes. - Whether the kidney is damaged. - Whether the cancer responds to initial treatment or recurs (comes back). Treatment options depend on the following: - The type of plasma cell neoplasm. - The age and general health of the patient. - Whether there are signs, symptoms, or health problems, such as kidney failure or infection, related to the disease. - Whether the cancer responds to initial treatment or recurs (comes back).",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +What are the stages of Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"Key Points + - There are no standard staging systems for monoclonal gammopathy of undetermined significance (MGUS), macroglobulinemia, and plasmacytoma. - After multiple myeloma has been diagnosed, tests are done to find out the amount of cancer in the body. - The stage of multiple myeloma is based on the levels of beta-2-microglobulin and albumin in the blood. - The following stages are used for multiple myeloma: - Stage I multiple myeloma - Stage II multiple myeloma - Stage III multiple myeloma + + + There are no standard staging systems for monoclonal gammopathy of undetermined significance (MGUS), macroglobulinemia, and plasmacytoma. + + + + After multiple myeloma has been diagnosed, tests are done to find out the amount of cancer in the body. + The process used to find out the amount of cancer in the body is called staging. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the bone marrow. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone densitometry: A procedure that uses a special type of x-ray to measure bone density. + + + The stage of multiple myeloma is based on the levels of beta-2-microglobulin and albumin in the blood. + Beta-2-microglobulin and albumin are found in the blood. Beta-2-microglobulin is a protein found on plasma cells. Albumin makes up the biggest part of the blood plasma. It keeps fluid from leaking out of blood vessels. It also brings nutrients to tissues, and carries hormones, vitamins, drugs, and other substances, such as calcium, all through the body. In the blood of patients with multiple myeloma, the amount of beta-2-microglobulin is increased and the amount of albumin is decreased. + + + The following stages are used for multiple myeloma: + Stage I multiple myeloma In stage I multiple myeloma, the blood levels are as follows: - beta-2-microglobulin level is lower than 3.5 mg/L; and - albumin level is 3.5 g/dL or higher. Stage II multiple myeloma In stage II multiple myeloma, the blood levels are in between the levels for stage I and stage III. Stage III multiple myeloma In stage III multiple myeloma, the blood level of beta-2-microglobulin is 5.5 mg/L or higher and the patient also has one of the following: - high levels of lactate dehydrogenase (LDH); or - certain changes in the chromosomes.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +What are the treatments for Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"Key Points + - There are different types of treatment for patients with plasma cell neoplasms. - Eight types of treatment are used: - Chemotherapy - Other drug therapy - Targeted therapy - High-dose chemotherapy with stem cell transplant - Biologic therapy - Radiation therapy - Surgery - Watchful waiting - New types of treatment are being tested in clinical trials. - New combinations of therapies - Supportive care is given to lessen the problems caused by the disease or its treatment. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with plasma cell neoplasms. + Different types of treatments are available for patients with plasma cell neoplasms. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Eight types of treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. Other drug therapy Corticosteroids are steroids that have antitumor effects in multiple myeloma. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Several types of targeted therapy may be used to treat multiple myeloma and other plasma cell neoplasms. Proteasome inhibitor therapy is a type of targeted therapy that blocks the action of proteasomes in cancer cells and may prevent the growth of tumors. Bortezomib, carfilzomib, ixazomib, daratumumab, and elotuzumab are proteasome inhibitors used in the treatment of multiple myeloma and other plasma cell neoplasms. Histone deacetylase (HDAC) inhibitor therapy is a type of targeted therapy that blocks enzymes needed for cell division and may stop the growth of cancer cells. Panobinostat is an HDAC inhibitor used in the treatment of multiple myeloma and other plasma cell neoplasms. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. High-dose chemotherapy with stem cell transplant This treatment is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient (autologous transplant) or a donor (allogeneic transplant) and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Immunomodulators are a type of biologic therapy. Thalidomide, lenalidomide, and pomalidomide are immunomodulators used to treat multiple myeloma and other plasma cell neoplasms. Interferon is a type of biologic therapy. It affects the division of cancer cells and can slow tumor growth. See Drugs Approved for Multiple Myeloma and Other Plasma Cell Neoplasms for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat plasma cell neoplasms. Surgery Surgery to remove the tumor may be done and is usually followed by radiation therapy. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. New combinations of therapies Clinical trials are studying different combinations of biologic therapy, chemotherapy, steroid therapy, and drugs. New treatment regimens using thalidomide or lenalidomide are also being studied. + + + Supportive care is given to lessen the problems caused by the disease or its treatment. + This therapy controls problems or side effects caused by the disease or its treatment, and improves quality of life. Supportive care is given to treat problems caused by multiple myeloma and other plasma cell neoplasms. Supportive care may include the following: - Plasmapheresis: If the blood becomes thick with extra antibody proteins and interferes with circulation, plasmapheresis is done to remove extra plasma and antibody proteins from the blood. In this procedure blood is removed from the patient and sent through a machine that separates the plasma (the liquid part of the blood) from the blood cells. The patient's plasma contains the unneeded antibodies and is not returned to the patient. The normal blood cells are returned to the bloodstream along with donated plasma or a plasma replacement. Plasmapheresis does not keep new antibodies from forming. - High-dose chemotherapy with stem cell transplant: If amyloidosis occurs, treatment may include high-dose chemotherapy followed by stem cell transplant using the patient's own stem cells. - Biologic therapy: Biologic therapy with thalidomide, lenalidomide, or pomalidomide is given to treat amyloidosis. - Targeted therapy: Targeted therapy with proteasome inhibitors is given to treat amyloidosis. - Radiation therapy: Radiation therapy is given for bone lesions of the spine. - Chemotherapy: Chemotherapy is given to reduce back pain from osteoporosis or compression fractures of the spine. - Bisphosphonate therapy: Bisphosphonate therapy is given to slow bone loss and reduce bone pain. See the following PDQ summaries for more information on bisphosphonates and problems related to their use: - Cancer Pain - Oral Complications of Chemotherapy and Head/Neck Radiation + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Plasma Cell Neoplasms + + + Monoclonal Gammopathy of Undetermined Significance + Treatment of monoclonal gammopathy of undetermined significance (MGUS) is usually watchful waiting. Regular blood tests to check the level of M protein in the blood and physical exams to check for signs or symptoms of cancer will be done. Check the list of NCI-supported cancer clinical trials that are now accepting patients with monoclonal gammopathy of undetermined significance. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Isolated Plasmacytoma of Bone + Treatment of isolated plasmacytoma of bone is usually radiation therapy to the bone lesion. Check the list of NCI-supported cancer clinical trials that are now accepting patients with isolated plasmacytoma of bone. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Extramedullary Plasmacytoma + Treatment of extramedullary plasmacytoma may include the following: - Radiation therapy to the tumor and nearby lymph nodes. - Surgery, usually followed by radiation therapy. - Watchful waiting after initial treatment, followed by radiation therapy, surgery, or chemotherapy if the tumor grows or causes signs or symptoms. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extramedullary plasmacytoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Multiple Myeloma + Patients without signs or symptoms may not need treatment. When signs or symptoms appear, the treatment of multiple myeloma may be done in phases: - Induction therapy : This is the first phase of treatment. Its goal is to reduce the amount of disease, and may include one or more of the following: - Corticosteroid therapy. - Biologic therapy with lenalidomide, pomalidomide, or thalidomide therapy. - Targeted therapy with proteasome inhibitors (bortezomib, carfilzomib, ixazomib, daratumumab, and elotuzumab). - Chemotherapy. - Histone deacetylase inhibitor therapy with panobinostat. - A clinical trial of different combinations of treatment. - Consolidation chemotherapy : This is the second phase of treatment. Treatment in the consolidation phase is to kill any remaining cancer cells. High-dose chemotherapy is followed by either: - one autologous stem cell transplant, in which the patient's stem cells from the blood or bone marrow are used; or - two autologous stem cell transplants followed by an autologous or allogeneic stem cell transplant, in which the patient receives stem cells from the blood or bone marrow of a donor; or - one allogeneic stem cell transplant. - Maintenance therapy : After the initial treatment, maintenance therapy is often given to help keep the disease in remission for a longer time. Several types of treatment are being studied for this use, including the following: - Chemotherapy. - Biologic therapy with interferon. - Corticosteroid therapy. - Lenalidomide therapy. - Targeted therapy with a proteasome inhibitor (bortezomib). Check the list of NCI-supported cancer clinical trials that are now accepting patients with multiple myeloma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Refractory Multiple Myeloma + Treatment of refractory multiple myeloma may include the following: - Watchful waiting for patients whose disease is stable. - A different treatment than treatment already given, for patients whose tumor kept growing during treatment. (See Multiple Myeloma treatment options.) - A clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with refractory multiple myeloma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +what research (or clinical trials) is being done for Plasma Cell Neoplasms (Including Multiple Myeloma) ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. New combinations of therapies Clinical trials are studying different combinations of biologic therapy, chemotherapy, steroid therapy, and drugs. New treatment regimens using thalidomide or lenalidomide are also being studied. + + + Supportive care is given to lessen the problems caused by the disease or its treatment. + This therapy controls problems or side effects caused by the disease or its treatment, and improves quality of life. Supportive care is given to treat problems caused by multiple myeloma and other plasma cell neoplasms. Supportive care may include the following: - Plasmapheresis: If the blood becomes thick with extra antibody proteins and interferes with circulation, plasmapheresis is done to remove extra plasma and antibody proteins from the blood. In this procedure blood is removed from the patient and sent through a machine that separates the plasma (the liquid part of the blood) from the blood cells. The patient's plasma contains the unneeded antibodies and is not returned to the patient. The normal blood cells are returned to the bloodstream along with donated plasma or a plasma replacement. Plasmapheresis does not keep new antibodies from forming. - High-dose chemotherapy with stem cell transplant: If amyloidosis occurs, treatment may include high-dose chemotherapy followed by stem cell transplant using the patient's own stem cells. - Biologic therapy: Biologic therapy with thalidomide, lenalidomide, or pomalidomide is given to treat amyloidosis. - Targeted therapy: Targeted therapy with proteasome inhibitors is given to treat amyloidosis. - Radiation therapy: Radiation therapy is given for bone lesions of the spine. - Chemotherapy: Chemotherapy is given to reduce back pain from osteoporosis or compression fractures of the spine. - Bisphosphonate therapy: Bisphosphonate therapy is given to slow bone loss and reduce bone pain. See the following PDQ summaries for more information on bisphosphonates and problems related to their use: - Cancer Pain - Oral Complications of Chemotherapy and Head/Neck Radiation + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Plasma Cell Neoplasms (Including Multiple Myeloma) +What is (are) Salivary Gland Cancer ?,"Key Points + - Salivary gland cancer is a rare disease in which malignant (cancer) cells form in the tissues of the salivary glands. - Being exposed to certain types of radiation may increase the risk of salivary cancer. - Signs of salivary gland cancer include a lump or trouble swallowing. - Tests that examine the head, neck, and the inside of the mouth are used to detect (find) and diagnose salivary gland cancer. - Certain factors affect treatment options and prognosis (chance of recovery). + + + Salivary gland cancer is a rare disease in which malignant (cancer) cells form in the tissues of the salivary glands. + The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: - Parotid glands: These are the largest salivary glands and are found in front of and just below each ear. Most major salivary gland tumors begin in this gland. - Sublingual glands: These glands are found under the tongue in the floor of the mouth. - Submandibular glands: These glands are found below the jawbone. There are also hundreds of small (minor) salivary glands lining parts of the mouth, nose, and larynx that can be seen only with a microscope. Most small salivary gland tumors begin in the palate (roof of the mouth). More than half of all salivary gland tumors are benign (not cancerous) and do not spread to other tissues. Salivary gland cancer is a type of head and neck cancer.",CancerGov,Salivary Gland Cancer +Who is at risk for Salivary Gland Cancer? ?,"Being exposed to certain types of radiation may increase the risk of salivary cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Although the cause of most salivary gland cancers is not known, risk factors include the following: - Older age. - Treatment with radiation therapy to the head and neck. - Being exposed to certain substances at work.",CancerGov,Salivary Gland Cancer +What are the symptoms of Salivary Gland Cancer ?,"Signs of salivary gland cancer include a lump or trouble swallowing. Salivary gland cancer may not cause any symptoms. It may be found during a regular dental check-up or physical exam. Signs and symptoms may be caused by salivary gland cancer or by other conditions. Check with your doctor if you have any of the following: - A lump (usually painless) in the area of the ear, cheek, jaw, lip, or inside the mouth. - Fluid draining from the ear. - Trouble swallowing or opening the mouth widely. - Numbness or weakness in the face. - Pain in the face that does not go away.",CancerGov,Salivary Gland Cancer +How to diagnose Salivary Gland Cancer ?,"Tests that examine the head, neck, and the inside of the mouth are used to detect (find) and diagnose salivary gland cancer. The following procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. The head, neck, mouth, and throat will be checked for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. For salivary gland cancer, an endoscope is inserted into the mouth to look at the mouth, throat, and larynx. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. - Fine needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. An FNA is the most common type of biopsy used for salivary gland cancer. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesnt look normal. - Surgery : If cancer cannot be diagnosed from the sample of tissue removed during an FNA biopsy or an incisional biopsy, the mass may be removed and checked for signs of cancer. Because salivary gland cancer can be hard to diagnose, patients should ask to have the tissue samples checked by a pathologist who has experience in diagnosing salivary gland cancer.",CancerGov,Salivary Gland Cancer +What is the outlook for Salivary Gland Cancer ?,Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The stage of the cancer (especially the size of the tumor). - The type of salivary gland the cancer is in. - The type of cancer cells (how they look under a microscope). - The patient's age and general health.,CancerGov,Salivary Gland Cancer +What are the stages of Salivary Gland Cancer ?,"Key Points + - After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for major salivary gland cancers: - Stage I - Stage II - Stage III - Stage IV + + + After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body. + The process used to find out if cancer has spread within the salivary glands or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if salivary gland cancer spreads to the lung, the cancer cells in the lung are actually salivary gland cancer cells. The disease is metastatic salivary gland cancer, not lung cancer. + + + The following stages are used for major salivary gland cancers: + Stage I In stage I, the tumor is in the salivary gland only and is 2 centimeters or smaller. Stage II In stage II, the tumor is in the salivary gland only and is larger than 2 centimeters but not larger than 4 centimeters. Stage III In stage III, one of the following is true: - The tumor is not larger than 4 centimeters and has spread to a single lymph node on the same side as the tumor and the lymph node is 3 centimeters or smaller. - The tumor is larger than 4 centimeters and/or has spread to soft tissue around the affected gland. Cancer may have spread to a single lymph node on the same side as the tumor and the lymph node is 3 centimeters or smaller. Stage IV Stage IV is divided into stages IVA, IVB, and IVC as follows: - Stage IVA: - The tumor may be any size and may have spread to soft tissue around the affected gland. Cancer has spread to a single lymph node on the same side as the tumor and the lymph node is larger than 3 centimeters but not larger than 6 centimeters, or has spread to more than one lymph node on either or both sides of the body and the lymph nodes are not larger than 6 centimeters; or - Cancer has spread to the skin, jawbone, ear canal, and/or facial nerve, and may have spread to one or more lymph nodes on either or both sides of the body. The lymph nodes are not larger than 6 centimeters. - Stage IVB: - The tumor may be any size and may have spread to soft tissue around the affected gland. Cancer has spread to a lymph node larger than 6 centimeters; or - Cancer has spread to the base of the skull and/or the carotid artery, and may have spread to one or more lymph nodes of any size on either or both sides of the body. - Stage IVC: - The tumor may be any size and may have spread to soft tissue around the affected gland, to the skin, jawbone, ear canal, facial nerve, base of the skull, or carotid artery, or to one or more lymph nodes on either or both sides of the body. Cancer has spread to distant parts of the body. Salivary gland cancers are also grouped by grade. The grade of a tumor tells how fast the cancer cells are growing, based on how the cells look under a microscope. Low-grade cancers grow more slowly than high-grade cancers. Minor salivary gland cancers are staged according to where they were first found in the body.",CancerGov,Salivary Gland Cancer +What are the treatments for Salivary Gland Cancer ?,"Key Points + - There are different types of treatment for patients with salivary gland cancer. - Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with salivary gland cancer. + Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer. + Your treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. Because the salivary glands help in eating and digesting food, patients may need special help adjusting to the side effects of the cancer and its treatment. The medical oncologist may refer you to other doctors who have experience and expertise in treating patients with head and neck cancer and who specialize in certain areas of medicine. These include the following: - Head and neck surgeon. - Radiation oncologist. - Dentist. - Speech therapist. - Dietitian. - Psychologist. - Rehabilitation specialist. - Plastic surgeon. + + + Three types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is a common treatment for salivary gland cancer. A doctor may remove the cancer and some of the healthy tissue around the cancer. In some cases, a lymphadenectomy (surgery in which lymph nodes are removed) will also be done. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Special types of external radiation may be used to treat some salivary gland tumors. These include: - Fast neutron radiation therapy: Fast neutron radiation therapy is a type of high-energy external radiation therapy. A radiation therapy machine aims neutrons (tiny, invisible particles) at the cancer cells to kill them. Fast neutron radiation therapy uses a higher-energy radiation than the x-ray type of radiation therapy. This allows the radiation therapy to be given in fewer treatments. - Photon-beam radiation therapy: Photon-beam radiation therapy is a type of external radiation therapy that reaches deep tumors with high-energy x-rays made by a machine called a linear accelerator. This can be delivered as hyperfractionated radiation therapy, in which the total dose of radiation is divided into small doses and the treatments are given more than once a day. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat salivary gland cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Head and Neck Cancer for more information. (Salivary gland cancer is a type of head and neck cancer.) + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Salivary Gland Cancer + Treatment for stage I salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without radiation therapy. - Fast neutron radiation therapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without radiation therapy. - A clinical trial of chemotherapy. - A clinical trial of a new local therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Salivary Gland Cancer + Treatment for stage II salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without radiation therapy. - Radiation therapy. - Chemotherapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without radiation therapy. - Fast neutron or photon-beam radiation therapy. - A clinical trial of radiation therapy and/or radiosensitizers. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Salivary Gland Cancer + Treatment for stage III salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing). If the cancer is low-grade, treatment may include the following: - Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery. - Radiation therapy. - Fast neutron radiation therapy to lymph nodes with cancer. - Chemotherapy. - A clinical trial of fast neutron radiation therapy to the tumor. - A clinical trial of chemotherapy. If the cancer is high-grade, treatment may include the following: - Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery. - Fast neutron radiation therapy. - Radiation therapy as palliative therapy to relieve symptoms and improve quality of life. - A clinical trial of radiation therapy and/or radiosensitizers. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Salivary Gland Cancer + Treatment of stage IV salivary gland cancer may include the following: - Fast neutron or photon-beam radiation therapy. - A clinical trial of chemotherapy with or without radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV salivary gland cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Salivary Gland Cancer +what research (or clinical trials) is being done for Salivary Gland Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Salivary Gland Cancer +What is (are) Childhood Non-Hodgkin Lymphoma ?,"Key Points + - Childhood non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The main types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - There are three major types of childhood non-Hodgkin lymphoma. - Mature B-cell non-Hodgkin lymphoma - Lymphoblastic lymphoma - Anaplastic large cell lymphoma - Some types of non-Hodgkin lymphoma are rare in children. - Past treatment for cancer and having a weakened immune system affect the risk of having childhood non-Hodgkin lymphoma. - Signs of childhood non-Hodgkin lymphoma include breathing problems and swollen lymph nodes. - Tests that examine the body and lymph system are used to detect (find) and diagnose childhood non-Hodgkin lymphoma. - A biopsy is done to diagnose childhood non-Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. + Childhood non-Hodgkin lymphoma is a type of cancer that forms in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. There are three types of lymphocytes: - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Non-Hodgkin lymphoma can begin in B lymphocytes, T lymphocytes, or natural killer cells. Lymphocytes can also be found in the blood and collect in the lymph nodes, spleen, and thymus. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Non-Hodgkin lymphoma can occur in both adults and children. Treatment for children is different than treatment for adults. See the following PDQ summaries for information about treatment of non-Hodgkin lymphoma in adults: - Adult Non-Hodgkin Lymphoma - Primary CNS Lymphoma Treatment - Mycosis Fungoides and the Sezary Syndrome Treatment + + + The main types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. + Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of childhood non-Hodgkin lymphoma. See the PDQ summary on Childhood Hodgkin Lymphoma Treatment for information about childhood Hodgkin lymphoma. + + + There are three major types of childhood non-Hodgkin lymphoma. + The type of lymphoma is determined by how the cells look under a microscope. The three major types of childhood non-Hodgkin lymphoma are: Mature B-cell non-Hodgkin lymphoma Mature B-cell non-Hodgkin lymphomas include: - Burkitt and Burkitt-like lymphoma/leukemia: Burkitt lymphoma and Burkitt leukemia are different forms of the same disease. Burkitt lymphoma/leukemia is an aggressive (fast-growing) disorder of B lymphocytes that is most common in children and young adults. It may form in the abdomen, Waldeyer's ring, testicles, bone, bone marrow, skin, or central nervous system (CNS). Burkitt leukemia may start in the lymph nodes as Burkitt lymphoma and then spread to the blood and bone marrow, or it may start in the blood and bone marrow without forming in the lymph nodes first. Both Burkitt leukemia and Burkitt lymphoma have been linked to infection with the Epstein-Barr virus (EBV), although EBV infection is more likely to occur in patients in Africa than in the United States. Burkitt and Burkitt-like lymphoma/leukemia are diagnosed when a sample of tissue is checked and a certain change to the c-myc gene is found. - Diffuse large B-cell lymphoma: Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma. It is a type of B-cell non-Hodgkin lymphoma that grows quickly in the lymph nodes. The spleen, liver, bone marrow, or other organs are also often affected. Diffuse large B-cell lymphoma occurs more often in adolescents than in children. - Primary mediastinal B-cell lymphoma: A type of lymphoma that develops from B cells in the mediastinum (the area behind the breastbone). It may spread to nearby organs including the lungs and the sac around the heart. It may also spread to lymph nodes and distant organs including the kidneys. In children and adolescents, primary mediastinal B-cell lymphoma occurs more often in older adolescents. Lymphoblastic lymphoma Lymphoblastic lymphoma is a type of lymphoma that mainly affects T-cell lymphocytes. It usually forms in the mediastinum (the area behind the breastbone). This causes trouble breathing, wheezing, trouble swallowing, or swelling of the head and neck. It may spread to lymph nodes, bone, bone marrow, skin, the CNS, abdominal organs, and other areas. Lymphoblastic lymphoma is a lot like acute lymphoblastic leukemia (ALL). Anaplastic large cell lymphoma Anaplastic large cell lymphoma is a type of lymphoma that mainly affects T-cell lymphocytes. It usually forms in the lymph nodes, skin, or bone, and sometimes forms in the gastrointestinal tract, lung, tissue that covers the lungs, and muscle. Patients with anaplastic large cell lymphoma have a receptor, called CD30, on the surface of their T cells. In many children, anaplastic large cell lymphoma is marked by changes in the ALK gene that makes a protein called anaplastic lymphoma kinase. A pathologist checks for these cell and gene changes to help diagnose anaplastic large cell lymphoma. + + + Some types of non-Hodgkin lymphoma are rare in children. + Some types of childhood non-Hodgkin lymphoma are less common. These include: - Pediatric-type follicular lymphoma : In children, follicular lymphoma occurs mainly in males. It is more likely to be found in one area and does not spread to other places in the body. It usually forms in the tonsils and lymph nodes in the neck, but may also form in the testicles, kidney, gastrointestinal tract, and salivary gland. - Marginal zone lymphoma : Marginal zone lymphoma is a type of lymphoma that tends to grow and spread slowly and is usually found at an early stage. It may be found in the lymph nodes or in areas outside the lymph nodes. Marginal zone lymphoma found outside the lymph nodes in children is called mucosa-associated lymphoid tissue (MALT) lymphoma and may be linked to Helicobacter pylori infection of the gastrointestinal tract and Chlamydophila psittaci infection of the conjunctival membrane which lines the eye. - Primary central nervous system (CNS) lymphoma : Primary CNS lymphoma is extremely rare in children. - Peripheral T-cell lymphoma : Peripheral T-cell lymphoma is an aggressive (fast-growing) non-Hodgkin lymphoma that begins in mature T lymphocytes. The T lymphocytes mature in the thymus gland and travel to other parts of the lymph system, such as the lymph nodes, bone marrow, and spleen. - Cutaneous T-cell lymphoma : Cutaneous T-cell lymphoma begins in the skin and can cause the skin to thicken or form a tumor. It is very rare in children, but is more common in adolescents and young adults. There are different types of cutaneous T-cell lymphoma, such as cutaneous anaplastic large cell lymphoma, subcutaneous panniculitis-like T-cell lymphoma, gamma-delta T-cell lymphoma, and mycosis fungoides. Mycosis fungoides rarely occurs in children and adolescents. + + + Past treatment for cancer and having a weakened immune system affect the risk of having childhood non-Hodgkin lymphoma. + Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Possible risk factors for childhood non-Hodgkin lymphoma include the following: - Past treatment for cancer. - Being infected with the Epstein-Barr virus or human immunodeficiency virus (HIV). - Having a weakened immune system after a transplant or from medicines given after a transplant. - Having certain inherited diseases of the immune system. If lymphoma or lymphoproliferative disease is linked to a weakened immune system from certain inherited diseases, HIV infection, a transplant or medicines given after a transplant, the condition is called lymphoproliferative disease associated with immunodeficiency. The different types of lymphoproliferative disease associated with immunodeficiency include: - Lymphoproliferative disease associated with primary immunodeficiency. - HIV-associated non-Hodgkin lymphoma. - Post-transplant lymphoproliferative disease.",CancerGov,Childhood Non-Hodgkin Lymphoma +What are the symptoms of Childhood Non-Hodgkin Lymphoma ?,"Signs of childhood non-Hodgkin lymphoma include breathing problems and swollen lymph nodes. These and other signs may be caused by childhood non-Hodgkin lymphoma or by other conditions. Check with a doctor if your child has any of the following: - Trouble breathing. - Wheezing. - Coughing. - High-pitched breathing sounds. - Swelling of the head, neck, upper body, or arms. - Trouble swallowing. - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin. - Painless lump or swelling in a testicle. - Fever for no known reason. - Weight loss for no known reason. - Night sweats.",CancerGov,Childhood Non-Hodgkin Lymphoma +How to diagnose Childhood Non-Hodgkin Lymphoma ?,"Tests that examine the body and lymph system are used to detect (find) and diagnose childhood non-Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body, including electrolytes, uric acid, blood urea nitrogen (BUN), creatinine, and liver function values. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of cancer. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. + - A biopsy is done to diagnose childhood non-Hodgkin lymphoma: Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Because treatment depends on the type of non-Hodgkin lymphoma, biopsy samples should be checked by a pathologist who has experience in diagnosing childhood non-Hodgkin lymphoma. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node or lump of tissue. - Incisional biopsy : The removal of part of a lump, lymph node, or sample of tissue. - Core biopsy : The removal of tissue or part of a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or part of a lymph node using a thin needle. The procedure used to remove the sample of tissue depends on where the tumor is in the body: - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Anterior mediastinotomy : A surgical procedure to look at the organs and tissues between the lungs and between the breastbone and heart for abnormal areas. An incision (cut) is made next to the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. This is also called the Chamberlain procedure. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. If cancer is found, the following tests may be done to study the cancer cells: - Immunohistochemistry : A laboratory test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to find certain gene changes. - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose specific types of lymphoma by comparing the cancer cells to normal cells of the immune system.",CancerGov,Childhood Non-Hodgkin Lymphoma +What is the outlook for Childhood Non-Hodgkin Lymphoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of lymphoma. - Where the tumor is in the body when the tumor is diagnosed. - The stage of the cancer. - Whether there are certain changes in the chromosomes. - The type of initial treatment. - Whether the lymphoma responded to initial treatment. - The patients age and general health.,CancerGov,Childhood Non-Hodgkin Lymphoma +what research (or clinical trials) is being done for Childhood Non-Hodgkin Lymphoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Non-Hodgkin Lymphoma +What are the stages of Childhood Non-Hodgkin Lymphoma ?,"Key Points + - After childhood non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - The following stages are used for childhood non-Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV + + + After childhood non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. + The process used to find out if cancer has spread within the lymph system or to other parts of the body is called staging. The results of tests and procedures used to diagnose non-Hodgkin lymphoma may also be used for staging. See the General Information section for a description of these tests and procedures. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedure also may be used to determine the stage: - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + The following stages are used for childhood non-Hodgkin lymphoma: + Stage I In stage I childhood non-Hodgkin lymphoma, cancer is found: - in one group of lymph nodes; or - in one area outside the lymph nodes. No cancer is found in the abdomen or mediastinum (area between the lungs). Stage II In stage II childhood non-Hodgkin lymphoma, cancer is found: - in one area outside the lymph nodes and in nearby lymph nodes; or - in two or more areas either above or below the diaphragm, and may have spread to nearby lymph nodes; or - to have started in the stomach or intestines and can be completely removed by surgery. Cancer may have spread to certain nearby lymph nodes. Stage III In stage III childhood non-Hodgkin lymphoma, cancer is found: - in at least one area above the diaphragm and in at least one area below the diaphragm; or - to have started in the chest; or - to have started in the abdomen and spread throughout the abdomen; or - in the area around the spine. Stage IV In stage IV childhood non-Hodgkin lymphoma, cancer is found in the bone marrow, brain, or cerebrospinal fluid. Cancer may also be found in other parts of the body.",CancerGov,Childhood Non-Hodgkin Lymphoma +What are the treatments for Childhood Non-Hodgkin Lymphoma ?,"Key Points + - There are different types of treatment for children with non-Hodgkin lymphoma. - Children with non-Hodgkin lymphoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of standard treatment are used: - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell transplant - Targeted therapy - Other drug therapy - Phototherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with non-Hodgkin lymphoma. + Different types of treatment are available for children with non-Hodgkin lymphoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Taking part in a clinical trial should be considered for all children with non-Hodgkin lymphoma. Some clinical trials are open only to patients who have not started treatment. + + + Children with non-Hodgkin lymphoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with non-Hodgkin lymphoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Radiation oncologist. - Pediatric hematologist. - Pediatric surgeon. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) + + + Six types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas. Combination chemotherapy is treatment using two or more anticancer drugs. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Intrathecal chemotherapy may be used to treat childhood non-Hodgkin lymphoma that has spread, or may spread, to the brain. When used to lessen the chance cancer will spread to the brain, it is called CNS prophylaxis. Intrathecal chemotherapy is given in addition to chemotherapy by mouth or vein. Higher than usual doses of chemotherapy may also be used as CNS prophylaxis. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of non-Hodgkin lymphoma being treated. External radiation therapy may be used to treat childhood non-Hodgkin lymphoma that has spread, or may spread, to the brain and spinal cord. Internal radiation therapy is not used to treat non-Hodgkin lymphoma. High-dose chemotherapy with stem cell transplant This treatment is a way of giving high doses of chemotherapy and then replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the bone marrow or blood of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibodies, tyrosine kinase inhibitors, and immunotoxins are three types of targeted therapy being used or studied in the treatment of childhood non-Hodgkin lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. - Rituximab is used to treat several types of childhood non-Hodgkin lymphoma. - Brentuximab vedotin is a monoclonal antibody combined with an anticancer drug that is used to treat anaplastic large cell lymphoma. A bispecific monoclonal antibody is made up of two different monoclonal antibodies that bind to two different substances and kills cancer cells. Bispecific monoclonal antibody therapy is used in the treatment of Burkitt and Burkitt-like lymphoma /leukemia and diffuse large B-cell lymphoma. Tyrosine kinase inhibitors (TKIs) block signals that tumors need to grow. Some TKIs also keep tumors from growing by preventing the growth of new blood vessels to the tumors. Other types of kinase inhibitors, such as crizotinib, are being studied for childhood non-Hodgkin lymphoma. Immunotoxins can bind to cancer cells and kill them. Denileukin diftitox is an immunotoxin used to treat cutaneous T-cell lymphoma. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Other drug therapy Retinoids are drugs related to vitamin A. Retinoid therapy with bexarotene is used to treat several types of cutaneous T-cell lymphoma. Steroids are hormones made naturally in the body. They can also be made in a laboratory and used as drugs. Steroid therapy is used to treat cutaneous T-cell lymphoma. Phototherapy Phototherapy is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. For skin cancer in the skin, laser light is shined onto the skin and the drug becomes active and kills the cancer cells. Phototherapy is used in the treatment of cutaneous T-cell lymphoma. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Non-Hodgkin Lymphoma + + + Burkitt and Burkitt-like lymphoma/leukemia + Treatment options for newly diagnosed Burkitt and Burkitt-like lymphoma/leukemia Treatment options for newly diagnosed Burkitt and Burkitt-like lymphoma /leukemia may include: - Surgery to remove as much of the tumor as possible, followed by combination chemotherapy. - Combination chemotherapy. - Combination chemotherapy and targeted therapy (rituximab). Treatment options for recurrent Burkitt and Burkitt-like lymphoma/leukemia Treatment options for recurrent Burkitt and Burkitt-like non-Hodgkin lymphoma /leukemia may include: - Combination chemotherapy and targeted therapy (rituximab). - High-dose chemotherapy with stem cell transplant with the patient's own cells or cells from a donor. - Targeted therapy with a bispecific antibody. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood Burkitt lymphoma, stage I childhood small noncleaved cell lymphoma, stage II childhood small noncleaved cell lymphoma, stage III childhood small noncleaved cell lymphoma, stage IV childhood small noncleaved cell lymphoma and recurrent childhood small noncleaved cell lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Diffuse large B-cell lymphoma + Treatment options for newly diagnosed diffuse large B-cell lymphoma Treatment options for newly diagnosed diffuse large B-cell lymphoma may include: - Surgery to remove as much of the tumor as possible, followed by combination chemotherapy. - Combination chemotherapy. - Combination chemotherapy and targeted therapy (rituximab). Treatment options for recurrent diffuse large B-cell lymphoma Treatment options for recurrent diffuse large B-cell lymphoma may include: - Combination chemotherapy and targeted therapy (rituximab). - High-dose chemotherapy with stem cell transplant with the patient's own cells or cells from a donor. - Targeted therapy with a bispecific antibody. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood diffuse large cell lymphoma, stage I childhood large cell lymphoma, stage II childhood large cell lymphoma, stage III childhood large cell lymphoma, stage IV childhood large cell lymphoma and recurrent childhood large cell lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Primary Mediastinal B-cell Lymphoma + Treatment options for primary mediastinal B-cell lymphoma Treatment options for primary mediastinal B-cell lymphoma may include: - Combination chemotherapy and targeted therapy (rituximab). + + + Lymphoblastic Lymphoma + Treatment options for newly diagnosed lymphoblastic lymphoma Lymphoblastic lymphoma may be classified as the same disease as acute lymphoblastic leukemia (ALL). Treatment options for lymphoblastic lymphoma may include: - Combination chemotherapy. CNS prophylaxis with radiation therapy or chemotherapy is also given if cancer has spread to the brain and spinal cord. - A clinical trial of chemotherapy with different regimens for CNS prophylaxis. - A clinical trial of combination chemotherapy with or without targeted therapy (bortezomib). Treatment options for recurrent lymphoblastic lymphoma Treatment options for recurrent lymphoblastic lymphoma may include: - Combination chemotherapy. - High-dose chemotherapy with stem cell transplant with cells from a donor. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I childhood lymphoblastic lymphoma, stage II childhood lymphoblastic lymphoma, stage III childhood lymphoblastic lymphoma, stage IV childhood lymphoblastic lymphoma and recurrent childhood lymphoblastic lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Anaplastic Large Cell Lymphoma + Treatment options for newly diagnosed anaplastic large cell lymphoma Treatment options for anaplastic large cell lymphoma may include: - Surgery followed by combination chemotherapy. - Combination chemotherapy. - Intrathecal and systemic chemotherapy, for patients with cancer in the brain or spinal cord. - A clinical trial of targeted therapy (crizotinib or brentuximab) and combination chemotherapy. Treatment options for recurrent anaplastic large cell lymphoma Treatment options for recurrent anaplastic large cell lymphoma may include: - Chemotherapy with one or more drugs. - Stem cell transplant with the patient's own cells or cells from a donor. - A clinical trial of targeted therapy (crizotinib) in children with recurrent anaplastic large cell lymphoma and changes in the ALK gene. - A clinical trial of targeted therapy (crizotinib) and combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I childhood anaplastic large cell lymphoma, stage II childhood anaplastic large cell lymphoma, stage III childhood anaplastic large cell lymphoma, stage IV childhood anaplastic large cell lymphoma and recurrent childhood anaplastic large cell lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Lymphoproliferative Disease Associated With Immunodeficiency in Children + Treatment options for lymphoproliferative disease associated with primary immunodeficiency Treatment options for lymphoproliferative disease in children and adolescents with weakened immune systems may include: - Chemotherapy. - Stem cell transplant with cells from a donor. Treatment options for HIV-associated non-Hodgkin lymphoma Treatment with highly active antiretroviral therapy or HAART (a combination of antiretroviral drugs) lowers the risk of non-Hodgkin lymphoma in patients infected with the human immunodeficiency virus (HIV). Treatment options for HIV-related non-Hodgkin lymphoma (NHL) in children may include: - Chemotherapy. For treatment of recurrent disease, treatment options depend on the type of non-Hodgkin lymphoma. Treatment options for post-transplant lymphoproliferative disease Treatment options for post-transplant lymphoproliferative disease may include: - Surgery to remove the tumor. If possible, lower doses of immunosuppressive drugs after a stem cell or organ transplant may be given. - Targeted therapy (rituximab). - Chemotherapy with or without targeted therapy (rituximab). - A clinical trial of immunotherapy using donor lymphocytes or the patient's own T cells to target Epstein-Barr infection. + + + Rare NHL Occurring in Children + Treatment options for pediatric-type follicular lymphoma Treatment options for follicular lymphoma in children may include: - Surgery. - Combination chemotherapy. For children whose cancer has certain changes in the genes, treatment is similar to that given to adults with follicular lymphoma. See the Follicular Lymphoma section in the PDQ summary on Adult Non-Hodgkin Lymphoma for information. Treatment options for marginal zone lymphoma Treatment options for marginal zone lymphoma in children may include: - Surgery. - Radiation therapy. - Antibiotic therapy, for mucosa-associated lymphoid tissue (MALT) lymphoma. Treatment options for primary CNS lymphoma Treatment options for primary CNS lymphoma in children may include: - Chemotherapy. Treatment options for peripheral T-cell lymphoma Treatment options for peripheral T-cell lymphoma in children may include: - Chemotherapy. - Radiation therapy. - Stem cell transplant with the patient's own cells or cells from a donor. Treatment options for cutaneous T-cell lymphoma Treatment options for subcutaneous panniculitis-like cutaneous T-cell lymphoma in children may include: - Watchful waiting. - High-dose steroids. - Targeted therapy (denileukin diftitox). - Combination chemotherapy. - Retinoid therapy. - Stem cell transplant. Treatment options for cutaneous anaplastic large cell lymphoma may include: - Surgery, radiation therapy, or both. In children, treatment options for mycosis fungoides may include: - Steroids applied to the skin. - Retinoid therapy. - Radiation therapy. - Phototherapy (light therapy using ultraviolet B radiation).",CancerGov,Childhood Non-Hodgkin Lymphoma +What is (are) Gastrointestinal Carcinoid Tumors ?,"Key Points + - A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. - Health history can affect the risk of gastrointestinal carcinoid tumors. - Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages. - Carcinoid syndrome may occur if the tumor spreads to the liver or other parts of the body. - Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + A gastrointestinal carcinoid tumor is cancer that forms in the lining of the gastrointestinal tract. + The gastrointestinal (GI) tract is part of the body's digestive system. It helps to digest food, takes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from food to be used by the body and helps pass waste material out of the body. The GI tract is made up of these and other organs: - Stomach. - Small intestine (duodenum, jejunum, and ileum). - Colon. - Rectum. Gastrointestinal carcinoid tumors form from a certain type of neuroendocrine cell (a type of cell that is like a nerve cell and a hormone -making cell). These cells are scattered throughout the chest and abdomen but most are found in the GI tract. Neuroendocrine cells make hormones that help control digestive juices and the muscles used in moving food through the stomach and intestines. A GI carcinoid tumor may also make hormones and release them into the body. GI carcinoid tumors are rare and most grow very slowly. Most of them occur in the small intestine, rectum, and appendix. Sometimes more than one tumor will form. See the following PDQ summaries for more information related to GI and other types of carcinoid tumors: - Non-Small Cell Lung Cancer Treatment. - Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment. - Rectal Cancer Treatment. - Small Intestine Cancer Treatment. - Unusual Cancers of Childhood Treatment + + + Carcinoid syndrome may occur if the tumor spreads to the liver or other parts of the body. + The hormones made by gastrointestinal carcinoid tumors are usually destroyed by liver enzymes in the blood. If the tumor has spread to the liver and the liver enzymes cannot destroy the extra hormones made by the tumor, high amounts of these hormones may remain in the body and cause carcinoid syndrome. This can also happen if tumor cells enter the blood. Signs and symptoms of carcinoid syndrome include the following: - Redness or a feeling of warmth in the face and neck. - Abdominal pain. - Feeling bloated. - Diarrhea. - Wheezing or other trouble breathing. - Fast heartbeat. These signs and symptoms may be caused by gastrointestinal carcinoid tumors or by other conditions. Talk to your doctor if you have any of these signs or symptoms.",CancerGov,Gastrointestinal Carcinoid Tumors +Who is at risk for Gastrointestinal Carcinoid Tumors? ?,"Health history can affect the risk of gastrointestinal carcinoid tumors. Anything that increases a person's chance of developing a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GI carcinoid tumors include the following: - Having a family history of multiple endocrine neoplasia type 1 (MEN1) syndrome or neurofibromatosis type 1 (NF1) syndrome. - Having certain conditions that affect the stomach's ability to make stomach acid, such as atrophic gastritis, pernicious anemia, or Zollinger-Ellison syndrome.",CancerGov,Gastrointestinal Carcinoid Tumors +What are the symptoms of Gastrointestinal Carcinoid Tumors ?,"Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages.Signs and symptoms may be caused by the growth of the tumor and/or the hormones the tumor makes. Some tumors, especially tumors of the stomach or appendix, may not cause signs or symptoms. Carcinoid tumors are often found during tests or treatments for other conditions. Carcinoid tumors in the small intestine (duodenum, jejunum, and ileum), colon, and rectum sometimes cause signs or symptoms as they grow or because of the hormones they make. Other conditions may cause the same signs or symptoms. Check with your doctor if you have any of the following: - Duodenum Signs and symptoms of GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach) may include the following: - Abdominal pain. - Constipation. - Diarrhea. - Change in stool color. - Nausea. - Vomiting. - Jaundice (yellowing of the skin and whites of the eyes). - Heartburn. - Jejunum and ileum Signs and symptoms of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following: - Abdominal pain. - Weight loss for no known reason. - Feeling very tired. - Feeling bloated - Diarrhea. - Nausea. - Vomiting. - Colon Signs and symptoms of GI carcinoid tumors in the colon may include the following: - Abdominal pain. - Weight loss for no known reason. - Rectum Signs and symptoms of GI carcinoid tumors in the rectum may include the following: - Blood in the stool. - Pain in the rectum. - Constipation.",CancerGov,Gastrointestinal Carcinoid Tumors +How to diagnose Gastrointestinal Carcinoid Tumors ?,"Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as hormones, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. The blood sample is checked to see if it contains a hormone produced by carcinoid tumors. This test is used to help diagnose carcinoid syndrome. - Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances, such as chromogranin A, made by organs, tissues, or tumor cells in the body. Chromogranin A is a tumor marker. It has been linked to neuroendocrine tumors when found in increased levels in the body. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances, such as 5-HIAA or serotonin (hormone). An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. This test is used to help diagnose carcinoid syndrome. - MIBG scan : A procedure used to find neuroendocrine tumors, such as carcinoid tumors. A very small amount of radioactive material called MIBG (metaiodobenzylguanidine) is injected into a vein and travels through the bloodstream. Carcinoid tumors take up the radioactive material and are detected by a device that measures radiation. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs, such as the stomach, small intestine, colon, or rectum, and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. - Upper endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through the mouth and passed through the esophagus into the stomach. Sometimes the endoscope also is passed from the stomach into the small intestine. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Colonoscopy : A procedure to look inside the rectum and colon for polyps, abnormal areas, or cancer. A colonoscope is inserted through the rectum into the colon. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer. - Capsule endoscopy : A procedure used to see all of the small intestine. The patient swallows a capsule that contains a tiny camera. As the capsule moves through the gastrointestinal tract, the camera takes pictures and sends them to a receiver worn on the outside of the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. Tissue samples may be taken during endoscopy and colonoscopy.",CancerGov,Gastrointestinal Carcinoid Tumors +What is the outlook for Gastrointestinal Carcinoid Tumors ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the gastrointestinal tract. - The size of the tumor. - Whether the cancer has spread from the stomach and intestines to other parts of the body, such as the liver or lymph nodes. - Whether the patient has carcinoid syndrome or has carcinoid heart syndrome. - Whether the cancer can be completely removed by surgery. - Whether the cancer is newly diagnosed or has recurred.",CancerGov,Gastrointestinal Carcinoid Tumors +What are the stages of Gastrointestinal Carcinoid Tumors ?,"Key Points + - After a gastrointestinal carcinoid tumor has been diagnosed, tests are done to find out if cancer cells have spread within the stomach and intestines or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The plan for cancer treatment depends on where the carcinoid tumor is found and whether it can be removed by surgery. + + + After a gastrointestinal carcinoid tumor has been diagnosed, tests are done to find out if cancer cells have spread within the stomach and intestines or to other parts of the body. + Staging is the process used to find out how far the cancer has spread. The information gathered from the staging process determines the stage of the disease. The results of tests and procedures used to diagnose gastrointestinal (GI) carcinoid tumors may also be used for staging. See the General Information section for a description of these tests and procedures. A bone scan may be done to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if a gastrointestinal (GI) carcinoid tumor spreads to the liver, the tumor cells in the liver are actually GI carcinoid tumor cells. The disease is metastatic GI carcinoid tumor, not liver cancer. + + + The plan for cancer treatment depends on where the carcinoid tumor is found and whether it can be removed by surgery. + For many cancers it is important to know the stage of the cancer in order to plan treatment. However, the treatment of gastrointestinal carcinoid tumors is not based on the stage of the cancer. Treatment depends mainly on whether the tumor can be removed by surgery and if the tumor has spread. Treatment is based on whether the tumor: - Can be completely removed by surgery. - Has spread to other parts of the body. - Has come back after treatment. The tumor may come back in the stomach or intestines or in other parts of the body. - Has not gotten better with treatment.",CancerGov,Gastrointestinal Carcinoid Tumors +What are the treatments for Gastrointestinal Carcinoid Tumors ?,"Key Points + - There are different types of treatment for patients with gastrointestinal carcinoid tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Treatment for carcinoid syndrome may also be needed. - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with gastrointestinal carcinoid tumors. + Different types of treatment are available for patients with gastrointestinal carcinoid tumor. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Treatment of GI carcinoid tumors usually includes surgery. One of the following surgical procedures may be used: - Endoscopic resection: Surgery to remove a small tumor that is on the inside lining of the GI tract. An endoscope is inserted through the mouth and passed through the esophagus to the stomach and sometimes, the duodenum. An endoscope is a thin, tube-like instrument with a light, a lens for viewing, and a tool for removing tumor tissue. - Local excision: Surgery to remove the tumor and a small amount of normal tissue around it. - Resection: Surgery to remove part or all of the organ that contains cancer. Nearby lymph nodes may also be removed. - Cryosurgery: A treatment that uses an instrument to freeze and destroy carcinoid tumor tissue. This type of treatment is also called cryotherapy. The doctor may use ultrasound to guide the instrument. - Radiofrequency ablation: The use of a special probe with tiny electrodes that release high-energy radio waves (similar to microwaves) that kill cancer cells. The probe may be inserted through the skin or through an incision (cut) in the abdomen. - Liver transplant: Surgery to remove the whole liver and replace it with a healthy donated liver. - Hepatic artery embolization: A procedure to embolize (block) the hepatic artery, which is the main blood vessel that brings blood into the liver. Blocking the flow of blood to the liver helps kill cancer cells growing there. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Radiopharmaceutical therapy is a type of internal radiation therapy. Radiation is given to the tumor using a drug that has a radioactive substance, such as iodine I 131, attached to it. The radioactive substance kills the tumor cells. External and internal radiation therapy are used to treat gastrointestinal carcinoid tumors that have spread to other parts of the body. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemoembolization of the hepatic artery is a type of regional chemotherapy that may be used to treat a gastrointestinal carcinoid tumor that has spread to the liver. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with a substance that embolizes (blocks) the artery, and cuts off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hormone therapy Hormone therapy with a somatostatin analogue is a treatment that stops extra hormones from being made. GI carcinoid tumors are treated with octreotide or lanreotide which are injected under the skin or into the muscle. Octreotide and lanreotide may also have a small effect on stopping tumor growth. + + + Treatment for carcinoid syndrome may also be needed. + Treatment of carcinoid syndrome may include the following: - Hormone therapy with a somatostatin analogue stops extra hormones from being made. Carcinoid syndrome is treated with octreotide or lanreotide to lessen flushing and diarrhea. Octreotide and lanreotide may also help slow tumor growth. - Interferon therapy stimulates the bodys immune system to work better and lessens flushing and diarrhea. Interferon may also help slow tumor growth. - Taking medicine for diarrhea. - Taking medicine for skin rashes. - Taking medicine to breathe easier. - Taking medicine before having anesthesia for a medical procedure. Other ways to help treat carcinoid syndrome include avoiding things that cause flushing or difficulty breathing such as alcohol, nuts, certain cheeses and foods with capsaicin, such as chili peppers. Avoiding stressful situations and certain types of physical activity can also help treat carcinoid syndrome. For some patients with carcinoid heart syndrome, a heart valve replacement may be done. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Several types of targeted therapy are being studied in the treatment of GI carcinoid tumors. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + Treatment Options for Gastrointestinal Carcinoid Tumors + + + Carcinoid Tumors in the Stomach + Treatment of gastrointestinal (GI) carcinoid tumors in the stomach may include the following: - Endoscopic surgery (resection) for small tumors. - Surgery (resection) to remove part or all of the stomach. Nearby lymph nodes for larger tumors, tumors that grow deep into the stomach wall, or tumors that are growing and spreading quickly may also be removed. For patients with GI carcinoid tumors in the stomach and MEN1 syndrome, treatment may also include: - Surgery (resection) to remove tumors in the duodenum (first part of the small intestine, that connects to the stomach). - Hormone therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Carcinoid Tumors in the Small Intestine + It is not clear what the best treatment is for GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach). Treatment may include the following: - Endoscopic surgery (resection) for small tumors. - Surgery (local excision) to remove slightly larger tumors. - Surgery (resection) to remove the tumor and nearby lymph nodes. Treatment of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following: - Surgery (resection) to remove the tumor and the membrane that connects the intestines to the back of the abdominal wall. Nearby lymph nodes are also removed. - A second surgery to remove the membrane that connects the intestines to the back of the abdominal wall, if any tumor remains or the tumor continues to grow. - Hormone therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Carcinoid Tumors in the Appendix + Treatment of GI carcinoid tumors in the appendix may include the following: - Surgery (resection) to remove the appendix. - Surgery (resection) to remove the right side of the colon including the appendix. Nearby lymph nodes are also removed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Carcinoid Tumors in the Colon + Treatment of GI carcinoid tumors in the colon may include the following: - Surgery (resection) to remove part of the colon and nearby lymph nodes, in order to remove as much of the cancer as possible. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Carcinoid Tumors in the Rectum + Treatment of GI carcinoid tumors in the rectum may include the following: - Endoscopic surgery (resection) for tumors that are smaller than 1 centimeter. - Surgery (resection) for tumors that are larger than 2 centimeters or that have spread to the muscle layer of the rectal wall. This may be either: - surgery to remove part of the rectum; or - surgery to remove the anus, the rectum, and part of the colon through an incision made in the abdomen. It is not clear what the best treatment is for tumors that are 1 to 2 centimeters. Treatment may include the following: - Endoscopic surgery (resection). - Surgery (resection) to remove part of the rectum. - Surgery (resection) to remove the anus, the rectum, and part of the colon through an incision made in the abdomen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gastrointestinal carcinoid tumor and regional gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Metastatic Gastrointestinal Carcinoid Tumors + Distant metastases Treatment of distant metastases of GI carcinoid tumors is usually palliative therapy to relieve symptoms and improve quality of life. Treatment may include the following: - Surgery (resection) to remove as much of the tumor as possible. - Hormone therapy. - Radiopharmaceutical therapy. - External radiation therapy for cancer that has spread to the bone, brain, or spinal cord. - A clinical trial of a new treatment. Liver metastases Treatment of cancer that has spread to the liver may include the following: - Surgery (local excision) to remove the tumor from the liver. - Hepatic artery embolization. - Cryosurgery. - Radiofrequency ablation. - Liver transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Gastrointestinal Carcinoid Tumors + Treatment of recurrent GI carcinoid tumors may include the following: - Surgery (local excision) to remove part or all of the tumor. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent gastrointestinal carcinoid tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Gastrointestinal Carcinoid Tumors +what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Several types of targeted therapy are being studied in the treatment of GI carcinoid tumors. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Gastrointestinal Carcinoid Tumors +What is (are) Adult Soft Tissue Sarcoma ?,"Key Points + - Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. - Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. - A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. - Adult soft tissue sarcoma is diagnosed with a biopsy. - Certain factors affect treatment options and prognosis (chance of recovery). + + + Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. + The soft tissues of the body include the muscles, tendons (bands of fiber that connect muscles to bones), fat, blood vessels, lymph vessels, nerves, and tissues around joints. Adult soft tissue sarcomas can form almost anywhere in the body, but are most common in the head, neck, arms, legs, trunk, and abdomen. There are many types of soft tissue sarcoma. The cells of each type of sarcoma look different under a microscope, based on the type of soft tissue in which the cancer began. See the following PDQ summaries for more information on soft tissue sarcomas: - Childhood Soft Tissue Sarcoma Treatment - Ewing Sarcoma Family of Tumors Treatment - Gastrointestinal Stromal Tumors Treatment - Kaposi Sarcoma Treatment - Uterine Sarcoma Treatment",CancerGov,Adult Soft Tissue Sarcoma +Who is at risk for Adult Soft Tissue Sarcoma? ?,"Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for soft tissue sarcoma include the following inherited disorders: - Retinoblastoma. - Neurofibromatosis type 1 (NF1; von Recklinghausen disease). - Tuberous sclerosis (Bourneville disease). - Familial adenomatous polyposis (FAP; Gardner syndrome). - Li-Fraumeni syndrome. - Werner syndrome (adult progeria). - Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors for soft tissue sarcoma include the following: - Past treatment with radiation therapy for certain cancers. - Being exposed to certain chemicals, such as Thorotrast (thorium dioxide), vinyl chloride, or arsenic. - Having swelling (lymphedema) in the arms or legs for a long time.",CancerGov,Adult Soft Tissue Sarcoma +What are the symptoms of Adult Soft Tissue Sarcoma ?,"A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. A sarcoma may appear as a painless lump under the skin, often on an arm or a leg. Sarcomas that begin in the abdomen may not cause signs or symptoms until they get very big. As the sarcoma grows bigger and presses on nearby organs, nerves, muscles, or blood vessels, signs and symptoms may include: - Pain. - Trouble breathing. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of these problems.",CancerGov,Adult Soft Tissue Sarcoma +How to diagnose Adult Soft Tissue Sarcoma ?,"Adult soft tissue sarcoma is diagnosed with a biopsy. If your doctor thinks you may have a soft tissue sarcoma, a biopsy will be done. The type of biopsy will be based on the size of the tumor and where it is in the body. There are three types of biopsy that may be used: - Incisional biopsy : The removal of part of a lump or a sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal. Samples will be taken from the primary tumor, lymph nodes, and other suspicious areas. A pathologist views the tissue under a microscope to look for cancer cells and to find out the grade of the tumor. The grade of a tumor depends on how abnormal the cancer cells look under a microscope and how quickly the cells are dividing. High-grade tumors usually grow and spread more quickly than low-grade tumors. Because soft tissue sarcoma can be hard to diagnose, patients should ask to have tissue samples checked by a pathologist who has experience in diagnosing soft tissue sarcoma. The following tests may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.",CancerGov,Adult Soft Tissue Sarcoma +What is the outlook for Adult Soft Tissue Sarcoma ?,"Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The type of soft tissue sarcoma. - The size, grade, and stage of the tumor. - How fast the cancer cells are growing and dividing. - Where the tumor is in the body. - Whether all of the tumor is removed by surgery. - The patient's age and general health. - Whether the cancer has recurred (come back).",CancerGov,Adult Soft Tissue Sarcoma +What are the stages of Adult Soft Tissue Sarcoma ?,"Key Points + - After adult soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the soft tissue or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for adult soft tissue sarcoma: - Stage I - Stage II - Stage III - Stage IV + + + After adult soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread within the soft tissue or to other parts of the body. + The process used to find out if cancer has spread within the soft tissue or to other parts of the body is called staging. Staging of soft tissue sarcoma is also based on the grade and size of the tumor, whether it is superficial (close to the skin's surface) or deep, and whether it has spread to the lymph nodes or other parts of the body. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside of the body, such as the lung and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. The results of these tests are viewed together with the results of the tumor biopsy to find out the stage of the soft tissue sarcoma before treatment is given. Sometimes chemotherapy or radiation therapy is given as the initial treatment and afterwards the soft tissue sarcoma is staged again. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if soft tissue sarcoma spreads to the lung, the cancer cells in the lung are actually soft tissue sarcoma cells. The disease is metastatic soft tissue sarcoma, not lung cancer. + + + The following stages are used for adult soft tissue sarcoma: + Stage I Stage I is divided into stages IA and IB: - In stage IA, the tumor is low-grade (likely to grow and spread slowly) and 5 centimeters or smaller. It may be either superficial (in subcutaneous tissue with no spread into connective tissue or muscle below) or deep (in the muscle and may be in connective or subcutaneous tissue). - In stage IB, the tumor is low-grade (likely to grow and spread slowly) and larger than 5 centimeters. It may be either superficial (in subcutaneous tissue with no spread into connective tissue or muscle below) or deep (in the muscle and may be in connective or subcutaneous tissue). Stage II Stage II is divided into stages IIA and IIB: - In stage IIA, the tumor is mid-grade (somewhat likely to grow and spread quickly) or high-grade (likely to grow and spread quickly) and 5 centimeters or smaller. It may be either superficial (in subcutaneous tissue with no spread into connective tissue or muscle below) or deep (in the muscle and may be in connective or subcutaneous tissue). - In stage IIB, the tumor is mid-grade (somewhat likely to grow and spread quickly) and larger than 5 centimeters. It may be either superficial (in subcutaneous tissue with no spread into connective tissue or muscle below) or deep (in the muscle and may be in connective or subcutaneous tissue). Stage III In stage III, the tumor is either: - high-grade (likely to grow and spread quickly), larger than 5 centimeters, and either superficial (in subcutaneous tissue with no spread into connective tissue or muscle below) or deep (in the muscle and may be in connective or subcutaneous tissue); or - any grade, any size, and has spread to nearby lymph nodes. Stage III cancer that has spread to the lymph nodes is advanced stage III. Stage IV In stage IV, the tumor is any grade, any size, and may have spread to nearby lymph nodes. Cancer has spread to distant parts of the body, such as the lungs.",CancerGov,Adult Soft Tissue Sarcoma +what research (or clinical trials) is being done for Adult Soft Tissue Sarcoma ?,"Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Soft Tissue Sarcoma +What are the treatments for Adult Soft Tissue Sarcoma ?,"Key Points + - There are different types of treatment for patients with adult soft tissue sarcoma. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Regional chemotherapy - Treatment for adult soft tissue sarcoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult soft tissue sarcoma. + Different types of treatments are available for patients with adult soft tissue sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Surgery Surgery is the most common treatment for adult soft tissue sarcoma. For some soft-tissue sarcomas, removal of the tumor in surgery may be the only treatment needed. The following surgical procedures may be used: - Mohs microsurgery: A procedure in which the tumor is cut from the skin in thin layers. During surgery, the edges of the tumor and each layer of tumor removed are viewed through a microscope to check for cancer cells. Layers continue to be removed until no more cancer cells are seen. This type of surgery removes as little normal tissue as possible and is often used where appearance is important, such as on the skin. - Wide local excision: Removal of the tumor along with some normal tissue around it. For tumors of the head, neck, abdomen, and trunk, as little normal tissue as possible is removed. - Limb-sparing surgery: Removal of the tumor in an arm or leg without amputation, so the use and appearance of the limb is saved. Radiation therapy or chemotherapy may be given first to shrink the tumor. The tumor is then removed in a wide local excision. Tissue and bone that are removed may be replaced with a graft using tissue and bone taken from another part of the patient's body, or with an implant such as artificial bone. - Amputation: Surgery to remove part or all of a limb or appendage, such as an arm or leg. Amputation is rarely used to treat soft tissue sarcoma of the arm or leg. - Lymphadenectomy: A surgical procedure in which lymph nodes are removed and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called a lymph node dissection. Radiation therapy or chemotherapy may be given before or after surgery to remove the tumor. When given before surgery, radiation therapy or chemotherapy will make the tumor smaller and reduce the amount of tissue that needs to be removed during surgery. Treatment given before surgery is called neoadjuvant therapy. When given after surgery, radiation therapy or chemotherapy will kill any remaining cancer cells. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Intensity-modulated radiation therapy (IMRT) is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. This type of external radiation therapy causes less damage to nearby healthy tissue and is less likely to cause dry mouth, trouble swallowing, and damage to the skin. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy and internal radiation therapy may be used to treat adult soft tissue sarcoma. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Soft Tissue Sarcoma for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Regional chemotherapy Clinical trials are studying ways to improve the effect of chemotherapy on tumor cells, including the following: - Regional hyperthermia therapy: A treatment in which tissue around the tumor is exposed to high temperatures to damage and kill cancer cells or to make cancer cells more sensitive to chemotherapy. - Isolated limb perfusion: A procedure that sends chemotherapy directly to an arm or leg in which the cancer has formed. The flow of blood to and from the limb is temporarily stopped with a tourniquet, and anticancer drugs are put directly into the blood of the limb. This sends a high dose of drugs to the tumor. + + + Treatment for adult soft tissue sarcoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Adult Soft Tissue Sarcoma + + + Stage I Adult Soft Tissue Sarcoma + Treatment of stage I soft tissue sarcoma may include the following: - Surgery to remove the tumor, such as Mohs microsurgery for small sarcomas of the skin, wide local excision, or limb-sparing surgery. - Radiation therapy before and/or after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I adult soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Adult Soft Tissue Sarcoma and Stage III Adult Soft Tissue Sarcoma That Has Not Spread to Lymph Nodes + Treatment of stage II adult soft tissue sarcoma and stage III adult soft tissue sarcoma that has not spread to lymph nodes may include the following: - Surgery to remove the tumor, such as wide local excision or limb-sparing surgery. - Radiation therapy before or after surgery. - Radiation therapy or chemotherapy before limb-sparing surgery. Radiation therapy may also be given after surgery. - High-dose radiation therapy for tumors that cannot be removed by surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II adult soft tissue sarcoma and stage III adult soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Adult Soft Tissue Sarcoma That Has Spread to Lymph Nodes (Advanced) + Treatment of stage III adult soft tissue sarcoma that has spread to lymph nodes (advanced) may include the following: - Surgery (wide local excision) with lymphadenectomy. Radiation therapy may also be given after surgery. - A clinical trial of surgery followed by chemotherapy. - A clinical trial of regional hyperthermia therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III adult soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Adult Soft Tissue Sarcoma + Treatment of stage IV adult soft tissue sarcoma may include the following: - Chemotherapy. - Surgery to remove cancer that has spread to the lungs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV adult soft tissue sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Adult Soft Tissue Sarcoma +What is (are) Primary CNS Lymphoma ?,"Key Points + - Primary central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord. - Having a weakened immune system may increase the risk of developing primary CNS lymphoma. - Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Primary central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord. + Lymphoma is a disease in which malignant (cancer) cells form in the lymph system. The lymph system is part of the immune system and is made up of the lymph, lymph vessels, lymph nodes, spleen, thymus, tonsils, and bone marrow. Lymphocytes (carried in the lymph) travel in and out of the central nervous system (CNS). It is thought that some of these lymphocytes become malignant and cause lymphoma to form in the CNS. Primary CNS lymphoma can start in the brain, spinal cord, or meninges (the layers that form the outer covering of the brain). Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma).",CancerGov,Primary CNS Lymphoma +Who is at risk for Primary CNS Lymphoma? ?,"Having a weakened immune system may increase the risk of developing primary CNS lymphoma. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Primary CNS lymphoma may occur in patients who have acquired immunodeficiency syndrome (AIDS) or other disorders of the immune system or who have had a kidney transplant. For more information about lymphoma in patients with AIDS, see the PDQ summary on AIDS-Related Lymphoma Treatment.",CancerGov,Primary CNS Lymphoma +How to diagnose Primary CNS Lymphoma ?,"Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Slit-lamp eye exam : An exam that uses a special microscope with a bright, narrow slit of light to check the outside and inside of the eye. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - Stereotactic biopsy : A biopsy procedure that uses a computer and a 3-dimensional (3-D) scanning device to find a tumor site and guide the removal of tissue so it can be viewed under a microscope to check for signs of cancer. The following tests may be done on the samples of tissue that are removed: - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Cytogenetic analysis: A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH), may also be done to look for certain changes in the chromosomes. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.",CancerGov,Primary CNS Lymphoma +What is the outlook for Primary CNS Lymphoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The patient's age and general health. - The level of certain substances in the blood and cerebrospinal fluid (CSF). - Where the tumor is in the central nervous system, eye, or both. - Whether the patient has AIDS. Treatment options depend on the following: - The stage of the cancer. - Where the tumor is in the central nervous system. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment of primary CNS lymphoma works best when the tumor has not spread outside the cerebrum (the largest part of the brain) and the patient is younger than 60 years, able to carry out most daily activities, and does not have AIDS or other diseases that weaken the immune system.",CancerGov,Primary CNS Lymphoma +what research (or clinical trials) is being done for Primary CNS Lymphoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of primary CNS lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Rituximab is a type of monoclonal antibody used to treat newly diagnosed primary CNS lymphoma in patients who do not have AIDS. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Primary CNS Lymphoma +What are the treatments for Primary CNS Lymphoma ?,"Key Points + - There are different types of treatment for patients with primary CNS lymphoma. - Three standard treatments are used: - Radiation therapy - Chemotherapy - Steroid therapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with primary CNS lymphoma. + Different types of treatment are available for patients with primary central nervous system (CNS) lymphoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Surgery is not used to treat primary CNS lymphoma. + + + Three standard treatments are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Because primary CNS lymphoma spreads throughout the brain, external radiation therapy is given to the whole brain. This is called whole brain radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on whether the patient has primary CNS lymphoma and AIDS. External radiation therapy is used to treat primary CNS lymphoma. High-dose radiation therapy to the brain can damage healthy tissue and cause disorders that can affect thinking, learning, problem solving, speech, reading, writing, and memory. Clinical trials have tested the use of chemotherapy alone or before radiation therapy to reduce the damage to healthy brain tissue that occurs with the use of radiation therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on where the tumor is in the CNS or eye. Primary CNS lymphoma may be treated with systemic chemotherapy, intrathecal chemotherapy and/or intraventricular chemotherapy, in which anticancer drugs are placed into the ventricles (fluid -filled cavities) of the brain. If primary CNS lymphoma is found in the eye, anticancer drugs are injected directly into the vitreous humor (jelly-like substance) inside the eye. A network of blood vessels and tissue, called the blood-brain barrier, protects the brain from harmful substances. This barrier can also keep anticancer drugs from reaching the brain. In order to treat CNS lymphoma, certain drugs may be used to make openings between cells in the blood-brain barrier. This is called blood-brain barrier disruption. Anticancer drugs infused into the bloodstream may then reach the brain. Steroid therapy Steroids are hormones made naturally in the body. They can also be made in a laboratory and used as drugs. Glucocorticoids are steroid drugs that have an anticancer effect in lymphomas. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of primary CNS lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Rituximab is a type of monoclonal antibody used to treat newly diagnosed primary CNS lymphoma in patients who do not have AIDS. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Primary CNS Lymphoma + + + Primary CNS Lymphoma Not Related to AIDS + Treatment of primary central nervous system (CNS) lymphoma in patients who do not have AIDS may include the following: - Whole brain radiation therapy. - Chemotherapy. - Chemotherapy followed by radiation therapy. - Chemotherapy and targeted therapy (rituximab) followed by high-dose chemotherapy and stem cell transplant. - A clinical trial of high-dose chemotherapy with stem cell transplant. - A clinical trial of high-dose chemotherapy and targeted therapy (rituximab), with or without stem cell transplant or whole brain radiation therapy. + + + Primary CNS Lymphoma Related to AIDS + Treatment of primary central nervous system (CNS) lymphoma in patients who do have AIDS may include the following: - Whole brain radiation therapy. - Chemotherapy followed by radiation therapy. Treatment of primary CNS lymphoma is different in patients with AIDS because the treatment side effects may be more severe. (See the PDQ summary on AIDS-Related Lymphoma Treatment for more information). + + + Primary Intraocular Lymphoma + Treatment of primary intraocular lymphoma may include the following: - Chemotherapy (intraocular or systemic). - Whole brain radiation therapy. + + + Recurrent Primary CNS Lymphoma + Treatment of recurrent primary central nervous system (CNS) lymphoma may include the following: - Chemotherapy. - Radiation therapy (if not received in earlier treatment). - A clinical trial of a new drug or treatment schedule.",CancerGov,Primary CNS Lymphoma +What is (are) Neuroblastoma ?,"Key Points + - Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue. - Most cases of neuroblastoma are diagnosed before 1 year of age. - The risk factors for neuroblastoma are not known. + + + Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue. + Neuroblastoma often begins in the nerve tissue of the adrenal glands. There are two adrenal glands, one on top of each kidney, in the back of the upper abdomen. The adrenal glands make important hormones that help control heart rate, blood pressure, blood sugar, and the way the body reacts to stress. Neuroblastoma may also begin in the abdomen, chest, spinal cord, or in nerve tissue near the spine in the neck. Neuroblastoma most often begins during early childhood, usually in children younger than 5 years of age. See the PDQ summary on Neuroblastoma Treatment for more information about neuroblastoma. + + + Most cases of neuroblastoma are diagnosed before 1 year of age. + Neuroblastoma is the most common type of cancer in infants. The number of new cases of neuroblastoma is greatest among children under 1 year of age. As children get older, the number of new cases decreases. Neuroblastoma is slightly more common in males than females. Neuroblastoma sometimes forms before birth but is usually found later, when the tumor begins to grow and cause symptoms. In rare cases, neuroblastoma may be found before birth, by fetal ultrasound.",CancerGov,Neuroblastoma +Who is at risk for Neuroblastoma? ?,The risk factors for neuroblastoma are not known.,CancerGov,Neuroblastoma +Who is at risk for Neuroblastoma? ?,"Key Points + - Screening tests have risks. - The risks of neuroblastoma screening include the following: - Neuroblastoma may be overdiagnosed. - False-negative test results can occur. - False-positive test results can occur. + + + Screening tests have risks. + Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to discuss the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer. + + + The risks of neuroblastoma screening include the following: + Neuroblastoma may be overdiagnosed. When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. For example, when a urine test result shows a higher than normal amount of homovanillic acid (HMA) or vanillyl mandelic acid (VMA), tests and treatments for neuroblastoma are likely to be done, but may not be needed. At this time, it is not possible to know which neuroblastomas found by a screening test will cause symptoms and which neuroblastomas will not. Diagnostic tests (such as biopsies) and cancer treatments (such as surgery, radiation therapy, and chemotherapy) can have serious risks, including physical and emotional problems. False-negative test results can occur. Screening test results may appear to be normal even though neuroblastoma is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests and procedures, which also have risks.",CancerGov,Neuroblastoma +What is (are) Breast Cancer ?,"Key Points + - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - A family history of breast cancer and other factors increase the risk of breast cancer. - Breast cancer is sometimes caused by inherited gene mutations (changes). - The use of certain medicines and other factors decrease the risk of breast cancer. - Signs of breast cancer include a lump or change in the breast. - Tests that examine the breasts are used to detect (find) and diagnose breast cancer. - If cancer is found, tests are done to study the cancer cells. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. + The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes. Each lobe has many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels carry lymph between lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter substances in lymph and help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. The most common type of breast cancer is ductal carcinoma, which begins in the cells of the ducts. Cancer that begins in the lobes or lobules is called lobular carcinoma and is more often found in both breasts than are other types of breast cancer. Inflammatory breast cancer is an uncommon type of breast cancer in which the breast is warm, red, and swollen. See the following PDQ summaries for more information about breast cancer: - Breast Cancer Prevention - Breast Cancer Screening - Breast Cancer Treatment and Pregnancy - Male Breast Cancer Treatment - Unusual Cancers of Childhood Treatment (for information about breast cancer in childhood)",CancerGov,Breast Cancer +Who is at risk for Breast Cancer? ?,"A family history of breast cancer and other factors increase the risk of breast cancer. + Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for breast cancer. Risk factors for breast cancer include the following: - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS). - A personal history of benign (noncancer) breast disease. - A family history of breast cancer in a first-degree relative (mother, daughter, or sister). - Inherited changes in the BRCA1 or BRCA2 genes or in other genes that increase the risk of breast cancer. - Breast tissue that is dense on a mammogram. - Exposure of breast tissue to estrogen made by the body. This may be caused by: - Menstruating at an early age. - Older age at first birth or never having given birth. - Starting menopause at a later age. - Taking hormones such as estrogen combined with progestin for symptoms of menopause. - Treatment with radiation therapy to the breast/chest. - Drinking alcohol. - Obesity. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER.",CancerGov,Breast Cancer +How to prevent Breast Cancer ?,The use of certain medicines and other factors decrease the risk of breast cancer. Anything that decreases your chance of getting a disease is called a protective factor. Protective factors for breast cancer include the following: - Taking any of the following: - Estrogen-only hormone therapy after a hysterectomy. - Selective estrogen receptor modulators (SERMs). - Aromatase inhibitors. - Less exposure of breast tissue to estrogen made by the body. This can be a result of: - Early pregnancy. - Breastfeeding. - Getting enough exercise. - Having any of the following procedures: - Mastectomy to reduce the risk of cancer. - Oophorectomy to reduce the risk of cancer. - Ovarian ablation.,CancerGov,Breast Cancer +Is Breast Cancer inherited ?,"Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. Women who have certain gene mutations, such as a BRCA1 or BRCA2 mutation, have an increased risk of breast cancer. These women also have an increased risk of ovarian cancer, and may have an increased risk of other cancers. Men who have a mutated gene related to breast cancer also have an increased risk of breast cancer. For more information, see the PDQ summary on Male Breast Cancer Treatment. There are tests that can detect (find) mutated genes. These genetic tests are sometimes done for members of families with a high risk of cancer. See the PDQ summary on Genetics of Breast and Gynecologic Cancers for more information.",CancerGov,Breast Cancer +What are the symptoms of Breast Cancer ?,"Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the size or shape of the breast. - A dimple or puckering in the skin of the breast. - A nipple turned inward into the breast. - Fluid, other than breast milk, from the nipple, especially if it's bloody. - Scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple). - Dimples in the breast that look like the skin of an orange, called peau dorange.",CancerGov,Breast Cancer +How to diagnose Breast Cancer ?,"Tests that examine the breasts are used to detect (find) and diagnose breast cancer. + Check with your doctor if you notice any changes in your breasts. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Clinical breast exam (CBE): An exam of the breast by a doctor or other health professional. The doctor will carefully feel the breasts and under the arms for lumps or anything else that seems unusual. - Mammogram: An x-ray of the breast. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of both breasts. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If a lump in the breast is found, a biopsy may be done. There are four types of biopsy used to check for breast cancer: - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or a sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid, using a thin needle. + + + If cancer is found, tests are done to study the cancer cells. + Decisions about the best treatment are based on the results of these tests. The tests give information about: - how quickly the cancer may grow. - how likely it is that the cancer will spread through the body. - how well certain treatments might work. - how likely the cancer is to recur (come back). Tests include the following: - Estrogen and progesterone receptor test : A test to measure the amount of estrogen and progesterone (hormones) receptors in cancer tissue. If there are more estrogen and progesterone receptors than normal, the cancer is called estrogen and/or progesterone receptor positive. This type of breast cancer may grow more quickly. The test results show whether treatment to block estrogen and progesterone may stop the cancer from growing. - Human epidermal growth factor type 2 receptor (HER2/neu) test : A laboratory test to measure how many HER2/neu genes there are and how much HER2/neu protein is made in a sample of tissue. If there are more HER2/neu genes or higher levels of HER2/neu protein than normal, the cancer is called HER2/neu positive. This type of breast cancer may grow more quickly and is more likely to spread to other parts of the body. The cancer may be treated with drugs that target the HER2/neu protein, such as trastuzumab and pertuzumab. - Multigene tests: Tests in which samples of tissue are studied to look at the activity of many genes at the same time. These tests may help predict whether cancer will spread to other parts of the body or recur (come back). There are many types of multigene tests. The following multigene tests have been studied in clinical trials: - Oncotype DX : This test helps predict whether stage I or stage II breast cancer that is estrogen receptor positive and node negative will spread to other parts of the body. If the risk that the cancer will spread is high, chemotherapy may be given to lower the risk. - MammaPrint : This test helps predict whether stage I or stage II breast cancer that is node negative will spread to other parts of the body. If the risk that the cancer will spread is high, chemotherapy may be given to lower the risk. Based on these tests, breast cancer is described as one of the following types: - Hormone receptor positive (estrogen and/or progesterone receptor positive) or hormone receptor negative (estrogen and/or progesterone receptor negative). - HER2/neu positive or HER2/neu negative. - Triple negative (estrogen receptor, progesterone receptor, and HER2/neu negative). This information helps the doctor decide which treatments will work best for your cancer.",CancerGov,Breast Cancer +What is the outlook for Breast Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to lymph nodes or other places in the body). - The type of breast cancer. - Estrogen receptor and progesterone receptor levels in the tumor tissue. - Human epidermal growth factor type 2 receptor (HER2/neu) levels in the tumor tissue. - Whether the tumor tissue is triple negative (cells that do not have estrogen receptors, progesterone receptors, or high levels of HER2/neu). - How fast the tumor is growing. - How likely the tumor is to recur (come back). - A womans age, general health, and menopausal status (whether a woman is still having menstrual periods). - Whether the cancer has just been diagnosed or has recurred (come back).",CancerGov,Breast Cancer +What are the stages of Breast Cancer ?,"Key Points + - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV - The treatment of breast cancer depends partly on the stage of the disease. + + + After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. + The process used to find out whether the cancer has spread within the breast or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of some of the tests used to diagnose breast cancer are also used to stage the disease. (See the General Information section.) The following tests and procedures also may be used in the staging process: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer. + + + The following stages are used for breast cancer: + This section describes the stages of breast cancer. The breast cancer stage is based on the results of tests that are done on the tumor and lymph nodes removed during surgery and on other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition seldom becomes invasive cancer. Information about LCIS is not included in this summary. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA: - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to: - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain. + + + The treatment of breast cancer depends partly on the stage of the disease. + For ductal carcinoma in situ (DCIS) treatment options, see Ductal Carcinoma in Situ. For treatment options for stage I, stage II, stage IIIA, and operable stage IIIC breast cancer, see Early, Localized, or Operable Breast Cancer. For treatment options for stage IIIB, inoperable stage IIIC, and inflammatory breast cancer, see Locally Advanced or Inflammatory Breast Cancer. For treatment options for cancer that has recurred near the area where it first formed, see Locoregional Recurrent Breast Cancer. For treatment options for stage IV breast cancer or breast cancer that has recurred in other parts of the body, see Metastatic Breast Cancer.",CancerGov,Breast Cancer +What are the treatments for Breast Cancer ?,"Key Points + - There are different types of treatment for patients with breast cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Treatment for breast cancer may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with breast cancer. + Different types of treatment are available for patients with breast cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Most patients with breast cancer have surgery to remove the cancer. Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node where the cancer is likely to spread. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. After the sentinel lymph node biopsy, the surgeon removes the tumor using breast-conserving surgery or mastectomy. If cancer cells were not found in the sentinel lymph node, it may not be necessary to remove more lymph nodes. If cancer cells were found, more lymph nodes will be removed through a separate incision. This is called a lymph node dissection. Types of surgery include the following: - Breast-conserving surgery is an operation to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery. - Total mastectomy: Surgery to remove the whole breast that has cancer. This procedure is also called a simple mastectomy. Some of the lymph nodes under the arm may be removed and checked for cancer. This may be done at the same time as the breast surgery or after. This is done through a separate incision. - Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. Chemotherapy may be given before surgery to remove the tumor. When given before surgery, chemotherapy will shrink the tumor and reduce the amount of tissue that needs to be removed during surgery. Treatment given before surgery is called preoperative therapy or neoadjuvant therapy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy, chemotherapy, or hormone therapy after surgery, to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called postoperative therapy or adjuvant therapy. If a patient is going to have a mastectomy, breast reconstruction (surgery to rebuild a breasts shape after a mastectomy) may be considered. Breast reconstruction may be done at the time of the mastectomy or at some time after. The reconstructed breast may be made with the patients own (nonbreast) tissue or by using implants filled with saline or silicone gel. Before the decision to get an implant is made, patients can call the Food and Drug Administration's (FDA) Center for Devices and Radiologic Health at 1-888-INFO-FDA (1-888-463-6332) or visit the FDA website for more information on breast implants. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat breast cancer. Internal radiation therapy with strontium-89 (a radionuclide) is used to relieve bone pain caused by breast cancer that has spread to the bones. Strontium-89 is injected into a vein and travels to the surface of the bones. Radiation is released and kills cancer cells in the bones. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Systemic chemotherapy is used in the treatment of breast cancer. See Drugs Approved for Breast Cancer for more information. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. The hormone estrogen, which makes some breast cancers grow, is made mainly by the ovaries. Treatment to stop the ovaries from making estrogen is called ovarian ablation. Hormone therapy with tamoxifen is often given to patients with early localized breast cancer that can be removed by surgery and those with metastatic breast cancer (cancer that has spread to other parts of the body). Hormone therapy with tamoxifen or estrogens can act on cells all over the body and may increase the chance of developing endometrial cancer. Women taking tamoxifen should have a pelvic exam every year to look for any signs of cancer. Any vaginal bleeding, other than menstrual bleeding, should be reported to a doctor as soon as possible. Hormone therapy with a luteinizing hormone-releasing hormone (LHRH) agonist is given to some premenopausal women who have just been diagnosed with hormone receptor positive breast cancer. LHRH agonists decrease the body's estrogen and progesterone. Hormone therapy with an aromatase inhibitor is given to some postmenopausal women who have hormone receptor positive breast cancer. Aromatase inhibitors decrease the body's estrogen by blocking an enzyme called aromatase from turning androgen into estrogen. Anastrozole, letrozole, and exemestane are types of aromatase inhibitors. For the treatment of early localized breast cancer that can be removed by surgery, certain aromatase inhibitors may be used as adjuvant therapy instead of tamoxifen or after 2 to 3 years of tamoxifen use. For the treatment of metastatic breast cancer, aromatase inhibitors are being tested in clinical trials to compare them to hormone therapy with tamoxifen. Other types of hormone therapy include megestrol acetate or anti-estrogen therapy such as fulvestrant. See Drugs Approved for Breast Cancer for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibodies, tyrosine kinase inhibitors, cyclin-dependent kinase inhibitors, mammalian target of rapamycin (mTOR) inhibitors, and PARP inhibitors are types of targeted therapies used in the treatment of breast cancer. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Monoclonal antibodies may be used in combination with chemotherapy as adjuvant therapy. Types of monoclonal antibody therapy include the following: - Trastuzumab is a monoclonal antibody that blocks the effects of the growth factor protein HER2, which sends growth signals to breast cancer cells. It may be used with other therapies to treat HER2 positive breast cancer. - Pertuzumab is a monoclonal antibody that may be combined with trastuzumab and chemotherapy to treat breast cancer. It may be used to treat certain patients with HER2 positive breast cancer that has metastasized (spread to other parts of the body). It may also be used as neoadjuvant therapy in certain patients with early stage HER2 positive breast cancer. - Ado-trastuzumab emtansine is a monoclonal antibody linked to an anticancer drug. This is called an antibody-drug conjugate. It is used to treat HER2 positive breast cancer that has spread to other parts of the body or recurred (come back). Tyrosine kinase inhibitors are targeted therapy drugs that block signals needed for tumors to grow. Tyrosine kinase inhibitors may be used with other anticancer drugs as adjuvant therapy. Tyrosine kinase inhibitors include the following: - Lapatinib is a tyrosine kinase inhibitor that blocks the effects of the HER2 protein and other proteins inside tumor cells. It may be used with other drugs to treat patients with HER2 positive breast cancer that has progressed after treatment with trastuzumab. Cyclin-dependent kinase inhibitors are targeted therapy drugs that block proteins called cyclin-dependent kinases, which cause the growth of cancer cells. Cyclin-dependent kinase inhibitors include the following: - Palbociclib is a cyclin-dependent kinase inhibitor used with the drug letrozole to treat breast cancer that is estrogen receptor positive and HER2 negative and has spread to other parts of the body. It is used in postmenopausal women whose cancer has not been treated with hormone therapy. Palbociclib may also be used with fulvestrant in women whose disease has gotten worse after treatment with hormone therapy. - Ribociclib is a cyclin-dependent kinase inhibitor used with letrozole to treat breast cancer that is hormone receptor positive and HER2 negative and has come back or spread to other parts of the body. It is used in postmenopausal women whose cancer has not been treated with hormone therapy. Mammalian target of rapamycin (mTOR) inhibitors block a protein called mTOR, which may keep cancer cells from growing and prevent the growth of new blood vessels that tumors need to grow. mTOR inhibitors include the following: - Everolimus is an mTOR inhibitor used in postmenopausal women with advanced hormone receptor positive breast cancer that is also HER2 negative and has not gotten better with other treatment. PARP inhibitors are a type of targeted therapy that block DNA repair and may cause cancer cells to die. PARP inhibitor therapy is being studied for the treatment of patients with triple negative breast cancer or tumors with BRCA1 or BRCA2 mutations. See Drugs Approved for Breast Cancer for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Studies have shown that high-dose chemotherapy followed by stem cell transplant does not work better than standard chemotherapy in the treatment of breast cancer. Doctors have decided that, for now, high-dose chemotherapy should be tested only in clinical trials. Before taking part in such a trial, women should talk with their doctors about the serious side effects, including death, that may be caused by high-dose chemotherapy. + + + Treatment for breast cancer may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Some treatments for breast cancer may cause side effects that continue or appear months or years after treatment has ended. These are called late effects. Late effects of radiation therapy are not common, but may include: - Inflammation of the lung after radiation therapy to the breast, especially when chemotherapy is given at the same time. - Arm lymphedema, especially when radiation therapy is given after lymph node dissection. - In women younger than 45 years who receive radiation therapy to the chest wall after mastectomy, there may be a higher risk of developing breast cancer in the other breast. Late effects of chemotherapy depend on the drugs used, but may include: - Heart failure. - Blood clots. - Premature menopause. - Second cancer, such as leukemia. Late effects of targeted therapy with trastuzumab, lapatinib, or pertuzumab may include: - Heart problems such as heart failure. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Breast Cancer + + + Early, Localized, or Operable Breast Cancer + Treatment of early, localized, or operable breast cancer may include the following: Surgery - Breast-conserving surgery and sentinel lymph node biopsy. If cancer is found in the lymph nodes, a lymph node dissection may be done. - Modified radical mastectomy. Breast reconstruction surgery may also be done. Postoperative radiation therapy For women who had breast-conserving surgery, radiation therapy is given to the whole breast to lessen the chance the cancer will come back. Radiation therapy may also be given to lymph nodes in the area. For women who had a modified radical mastectomy, radiation therapy may be given to lessen the chance the cancer will come back if any of the following are true: - Cancer was found in 4 or more lymph nodes. - Cancer had spread to tissue around the lymph nodes. - The tumor was large. - There is tumor close to or remaining in the tissue near the edges of where the tumor was removed. Postoperative systemic therapy Systemic therapy is the use of drugs that can enter the bloodstream and reach cancer cells throughout the body. Postoperative systemic therapy is given to lessen the chance the cancer will come back after surgery to remove the tumor. Postoperative systemic therapy is given depending on whether: - The tumor is hormone receptor negative or positive. - The tumor is HER2/neu negative or positive. - The tumor is hormone receptor negative and HER2/neu negative (triple negative). - The size of the tumor. In premenopausal women with hormone receptor positive tumors, no more treatment may be needed or postoperative therapy may include: - Tamoxifen therapy with or without chemotherapy. - Tamoxifen therapy and treatment to stop or lessen how much estrogen is made by the ovaries. Drug therapy, surgery to remove the ovaries, or radiation therapy to the ovaries may be used. - Aromatase inhibitor therapy and treatment to stop or lessen how much estrogen is made by the ovaries. Drug therapy, surgery to remove the ovaries, or radiation therapy to the ovaries may be used. In postmenopausal women with hormone receptor positive tumors, no more treatment may be needed or postoperative therapy may include: - Aromatase inhibitor therapy with or without chemotherapy. - Tamoxifen followed by aromatase inhibitor therapy, with or without chemotherapy. In women with hormone receptor negative tumors, no more treatment may be needed or postoperative therapy may include: - Chemotherapy. In women with HER2/neu negative tumors, postoperative therapy may include: - Chemotherapy. In women with small, HER2/neu positive tumors, and no cancer in the lymph nodes, no more treatment may be needed. If there is cancer in the lymph nodes, or the tumor is large, postoperative therapy may include: - Chemotherapy and targeted therapy (trastuzumab). - Hormone therapy, such as tamoxifen or aromatase inhibitor therapy, for tumors that are also hormone receptor positive. In women with small, hormone receptor negative and HER2/neu negative tumors (triple negative) and no cancer in the lymph nodes, no more treatment may be needed. If there is cancer in the lymph nodes or the tumor is large, postoperative therapy may include: - Chemotherapy. - Radiation therapy. - A clinical trial of a new chemotherapy regimen. - A clinical trial of PARP inhibitor therapy. Preoperative systemic therapy Systemic therapy is the use of drugs that can enter the bloodstream and reach cancer cells throughout the body. Preoperative systemic therapy is given to shrink the tumor before surgery. In postmenopausal women with hormone receptor positive tumors, preoperative therapy may include: - Chemotherapy. - Hormone therapy, such as tamoxifen or aromatase inhibitor therapy, for women who cannot have chemotherapy. In premenopausal women with hormone receptor positive tumors, preoperative therapy may include: - A clinical trial of hormone therapy, such as tamoxifen or aromatase inhibitor therapy. In women with HER2/neu positive tumors, preoperative therapy may include: - Chemotherapy and targeted therapy (trastuzumab). - Targeted therapy (pertuzumab). In women with HER2/neu negative tumors or triple negative tumors, preoperative therapy may include: - Chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I breast cancer, stage II breast cancer, stage IIIA breast cancer and stage IIIC breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Locally Advanced or Inflammatory Breast Cancer + Treatment of locally advanced or inflammatory breast cancer is a combination of therapies that may include the following: - Surgery (breast-conserving surgery or total mastectomy) with lymph node dissection. - Chemotherapy before and/or after surgery. - Radiation therapy after surgery. - Hormone therapy after surgery for tumors that are estrogen receptor positive or estrogen receptor unknown. - Clinical trials testing new anticancer drugs, new drug combinations, and new ways of giving treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIB breast cancer, stage IIIC breast cancer, stage IV breast cancer and inflammatory breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Locoregional Recurrent Breast Cancer + Treatment of locoregional recurrent breast cancer (cancer that has come back after treatment in the breast, in the chest wall, or in nearby lymph nodes), may include the following: - Chemotherapy. - Hormone therapy for tumors that are hormone receptor positive. - Radiation therapy. - Surgery. - Targeted therapy (trastuzumab). - A clinical trial of a new treatment. See the Metastatic Breast Cancer section for information about treatment options for breast cancer that has spread to parts of the body outside the breast, chest wall, or nearby lymph nodes. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent breast cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Metastatic Breast Cancer + Treatment options for metastatic breast cancer (cancer that has spread to distant parts of the body) may include the following: Hormone therapy In postmenopausal women who have just been diagnosed with metastatic breast cancer that is hormone receptor positive or if the hormone receptor status is not known, treatment may include: - Tamoxifen therapy. - Aromatase inhibitor therapy (anastrozole, letrozole, or exemestane). Sometimes cyclin-dependent kinase inhibitor therapy (palbociclib) is also given. In premenopausal women who have just been diagnosed with metastatic breast cancer that is hormone receptor positive, treatment may include: - Tamoxifen, an LHRH agonist, or both. In women whose tumors are hormone receptor positive or hormone receptor unknown, with spread to the bone or soft tissue only, and who have been treated with tamoxifen, treatment may include: - Aromatase inhibitor therapy. - Other hormone therapy such as megestrol acetate, estrogen or androgen therapy, or anti-estrogen therapy such as fulvestrant. Targeted therapy In women with metastatic breast cancer that is hormone receptor positive and has not responded to other treatments, options may include targeted therapy such as: - Trastuzumab, lapatinib, pertuzumab, or mTOR inhibitors. - Antibody-drug conjugate therapy with ado-trastuzumab emtansine. - Cyclin-dependent kinase inhibitor therapy (palbociclib) combined with letrozole. In women with metastatic breast cancer that is HER2/neu positive, treatment may include: - Targeted therapy such as trastuzumab, pertuzumab, ado-trastuzumab emtansine, or lapatinib. Chemotherapy In women with metastatic breast cancer that is hormone receptor negative, has not responded to hormone therapy, has spread to other organs or has caused symptoms, treatment may include: - Chemotherapy with one or more drugs. Surgery - Total mastectomy for women with open or painful breast lesions. Radiation therapy may be given after surgery. - Surgery to remove cancer that has spread to the brain or spine. Radiation therapy may be given after surgery. - Surgery to remove cancer that has spread to the lung. - Surgery to repair or help support weak or broken bones. Radiation therapy may be given after surgery. - Surgery to remove fluid that has collected around the lungs or heart. Radiation therapy - Radiation therapy to the bones, brain, spinal cord, breast, or chest wall to relieve symptoms and improve quality of life. - Strontium-89 (a radionuclide) to relieve pain from cancer that has spread to bones throughout the body. Other treatment options Other treatment options for metastatic breast cancer include: - Drug therapy with bisphosphonates or denosumab to reduce bone disease and pain when cancer has spread to the bone. (See the PDQ summary on Cancer Pain for more information about bisphosphonates.) - A clinical trial of high-dose chemotherapy with stem cell transplant. - Clinical trials testing new anticancer drugs, new drug combinations, and new ways of giving treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Breast Cancer +what research (or clinical trials) is being done for Breast Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Studies have shown that high-dose chemotherapy followed by stem cell transplant does not work better than standard chemotherapy in the treatment of breast cancer. Doctors have decided that, for now, high-dose chemotherapy should be tested only in clinical trials. Before taking part in such a trial, women should talk with their doctors about the serious side effects, including death, that may be caused by high-dose chemotherapy. + + + Treatment for breast cancer may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Some treatments for breast cancer may cause side effects that continue or appear months or years after treatment has ended. These are called late effects. Late effects of radiation therapy are not common, but may include: - Inflammation of the lung after radiation therapy to the breast, especially when chemotherapy is given at the same time. - Arm lymphedema, especially when radiation therapy is given after lymph node dissection. - In women younger than 45 years who receive radiation therapy to the chest wall after mastectomy, there may be a higher risk of developing breast cancer in the other breast. Late effects of chemotherapy depend on the drugs used, but may include: - Heart failure. - Blood clots. - Premature menopause. - Second cancer, such as leukemia. Late effects of targeted therapy with trastuzumab, lapatinib, or pertuzumab may include: - Heart problems such as heart failure. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Breast Cancer +What is (are) Prostate Cancer ?,"Key Points + - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Signs of prostate cancer include a weak flow of urine or frequent urination. - Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. + The prostate is a gland in the male reproductive system. It lies just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland makes fluid that is part of the semen. Prostate cancer is most common in older men. In the U.S., about 1 out of 5 men will be diagnosed with prostate cancer.",CancerGov,Prostate Cancer +What are the symptoms of Prostate Cancer ?,"Signs of prostate cancer include a weak flow of urine or frequent urination. These and other signs and symptoms may be caused by prostate cancer or by other conditions. Check with your doctor if you have any of the following: - Weak or interrupted (""stop-and-go"") flow of urine. - Sudden urge to urinate. - Frequent urination (especially at night). - Trouble starting the flow of urine. - Trouble emptying the bladder completely. - Pain or burning while urinating. - Blood in the urine or semen. - A pain in the back, hips, or pelvis that doesn't go away. - Shortness of breath, feeling very tired, fast heartbeat, dizziness, or pale skin caused by anemia. Other conditions may cause the same symptoms. As men age, the prostate may get bigger and block the urethra or bladder. This may cause trouble urinating or sexual problems. The condition is called benign prostatic hyperplasia (BPH), and although it is not cancer, surgery may be needed. The symptoms of benign prostatic hyperplasia or of other problems in the prostate may be like symptoms of prostate cancer.",CancerGov,Prostate Cancer +How to diagnose Prostate Cancer ?,"Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Digital rectal exam (DRE): An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum and feels the prostate through the rectal wall for lumps or abnormal areas. - Prostate-specific antigen (PSA) test : A test that measures the level of PSA in the blood. PSA is a substance made by the prostate that may be found in an increased amount in the blood of men who have prostate cancer. PSA levels may also be high in men who have an infection or inflammation of the prostate or BPH (an enlarged, but noncancerous, prostate). - Transrectal ultrasound : A procedure in which a probe that is about the size of a finger is inserted into the rectum to check the prostate. The probe is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. Transrectal ultrasound may be used during a biopsy procedure. - Transrectal magnetic resonance imaging (MRI): A procedure that uses a strong magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A probe that gives off radio waves is inserted into the rectum near the prostate. This helps the MRI machine make clearer pictures of the prostate and nearby tissue. A transrectal MRI is done to find out if the cancer has spread outside the prostate into nearby tissues. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist. The pathologist will check the tissue sample to see if there are cancer cells and find out the Gleason score. The Gleason score ranges from 2-10 and describes how likely it is that a tumor will spread. The lower the number, the less likely the tumor is to spread. A transrectal biopsy is used to diagnose prostate cancer. A transrectal biopsy is the removal of tissue from the prostate by inserting a thin needle through the rectum and into the prostate. This procedure is usually done using transrectal ultrasound to help guide where samples of tissue are taken from. A pathologist views the tissue under a microscope to look for cancer cells.",CancerGov,Prostate Cancer +What is the outlook for Prostate Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (level of PSA, Gleason score, grade of the tumor, how much of the prostate is affected by the cancer, and whether the cancer has spread to other places in the body). - The patients age. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment options also may depend on the following: - Whether the patient has other health problems. - The expected side effects of treatment. - Past treatment for prostate cancer. - The wishes of the patient. Most men diagnosed with prostate cancer do not die of it.",CancerGov,Prostate Cancer +What are the stages of Prostate Cancer ?,"Key Points + - After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for prostate cancer: - Stage I - Stage II - Stage III - Stage IV + + + After prostate cancer has been diagnosed, tests are done to find out if cancer cells have spread within the prostate or to other parts of the body. + The process used to find out if cancer has spread within the prostate or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose prostate cancer are often also used to stage the disease. (See the General Information section.) In prostate cancer, staging tests may not be done unless the patient has symptoms or signs that the cancer has spread, such as bone pain, a high PSA level, or a high Gleason score. The following tests and procedures also may be used in the staging process: - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Pelvic lymphadenectomy : A surgical procedure to remove the lymph nodes in the pelvis. A pathologist views the tissue under a microscope to look for cancer cells. - Seminal vesicle biopsy : The removal of fluid from the seminal vesicles (glands that make semen) using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - ProstaScint scan : A procedure to check for cancer that has spread from the prostate to other parts of the body, such as the lymph nodes. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material attaches to prostate cancer cells and is detected by a scanner. The radioactive material shows up as a bright spot on the picture in areas where there are a lot of prostate cancer cells. The stage of the cancer is based on the results of the staging and diagnostic tests, including the prostate-specific antigen (PSA) test and the Gleason score. The tissue samples removed during the biopsy are used to find out the Gleason score. The Gleason score ranges from 2-10 and describes how different the cancer cells look from normal cells and how likely it is that the tumor will spread. The lower the number, the less likely the tumor is to spread. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if prostate cancer spreads to the bone, the cancer cells in the bone are actually prostate cancer cells. The disease is metastatic prostate cancer, not bone cancer. Denosumab, a monoclonal antibody, may be used to prevent bone metastases. + + + The following stages are used for prostate cancer: + Stage I In stage I, cancer is found in the prostate only. The cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 10 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 10 and the Gleason score is 6 or lower; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. Cancer is found in one-half or less of one lobe of the prostate. The PSA level and the Gleason score are not known. Stage II In stage II, cancer is more advanced than in stage I, but has not spread outside the prostate. Stage II is divided into stages IIA and IIB. In stage IIA, cancer: - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is lower than 20 and the Gleason score is 7; or - is found by needle biopsy (done for a high PSA level) or in a small amount of tissue during surgery for other reasons (such as benign prostatic hyperplasia). The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is at least 10 but lower than 20 and the Gleason score is 6 or lower; or - is found in one-half or less of one lobe of the prostate. The PSA level is lower than 20 and the Gleason score is 7; or - is found in more than one-half of one lobe of the prostate. In stage IIB, cancer: - is found in opposite sides of the prostate. The PSA can be any level and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA level is 20 or higher and the Gleason score can range from 2 to 10; or - cannot be felt during a digital rectal exam and cannot be seen in imaging tests. The PSA can be any level and the Gleason score is 8 or higher. Stage III In stage III, cancer has spread beyond the outer layer of the prostate and may have spread to the seminal vesicles. The PSA can be any level and the Gleason score can range from 2 to 10. Stage IV In stage IV, the PSA can be any level and the Gleason score can range from 2 to 10. Also, cancer: - has spread beyond the seminal vesicles to nearby tissue or organs, such as the rectum, bladder, or pelvic wall; or - may have spread to the seminal vesicles or to nearby tissue or organs, such as the rectum, bladder, or pelvic wall. Cancer has spread to nearby lymph nodes; or - has spread to distant parts of the body, which may include lymph nodes or bones. Prostate cancer often spreads to the bones.",CancerGov,Prostate Cancer +What are the treatments for Prostate Cancer ?,"Key Points + - There are different types of treatment for patients with prostate cancer. - Seven types of standard treatment are used: - Watchful waiting or active surveillance - Surgery - Radiation therapy and radiopharmaceutical therapy - Hormone therapy - Chemotherapy - Biologic therapy - Bisphosphonate therapy - There are treatments for bone pain caused by bone metastases or hormone therapy. - New types of treatment are being tested in clinical trials. - Cryosurgery - High-intensityfocused ultrasound therapy - Proton beam radiation therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with prostate cancer. + Different types of treatment are available for patients with prostate cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Seven types of standard treatment are used: + Watchful waiting or active surveillance Watchful waiting and active surveillance are treatments used for older men who do not have signs or symptoms or have other medical conditions and for men whose prostate cancer is found during a screening test. Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Treatment is given to relieve symptoms and improve quality of life. Active surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the condition is getting worse. In active surveillance, patients are given certain exams and tests, including digital rectal exam, PSA test, transrectal ultrasound, and transrectal needle biopsy, to check if the cancer is growing. When the cancer begins to grow, treatment is given to cure the cancer. Other terms that are used to describe not giving treatment to cure prostate cancer right after diagnosis are observation, watch and wait, and expectant management. Surgery Patients in good health whose tumor is in the prostate gland only may be treated with surgery to remove the tumor. The following types of surgery are used: - Radical prostatectomy: A surgical procedure to remove the prostate, surrounding tissue, and seminal vesicles. There are two types of radical prostatectomy: - Retropubic prostatectomy: A surgical procedure to remove the prostate through an incision (cut) in the abdominal wall. Removal of nearby lymph nodes may be done at the same time. - Perineal prostatectomy: A surgical procedure to remove the prostate through an incision (cut) made in the perineum (area between the scrotum and anus). Nearby lymph nodes may also be removed through a separate incision in the abdomen. - Pelvic lymphadenectomy: A surgical procedure to remove the lymph nodes in the pelvis. A pathologist views the tissue under a microscope to look for cancer cells. If the lymph nodes contain cancer, the doctor will not remove the prostate and may recommend other treatment. - Transurethral resection of the prostate (TURP): A surgical procedure to remove tissue from the prostate using a resectoscope (a thin, lighted tube with a cutting tool) inserted through the urethra. This procedure is done to treat benign prostatic hypertrophy and it is sometimes done to relieve symptoms caused by a tumor before other cancer treatment is given. TURP may also be done in men whose tumor is in the prostate only and who cannot have a radical prostatectomy. In some cases, nerve-sparing surgery can be done. This type of surgery may save the nerves that control erection. However, men with large tumors or tumors that are very close to the nerves may not be able to have this surgery. Possible problems after prostate cancer surgery include the following: - Impotence. - Leakage of urine from the bladder or stool from the rectum. - Shortening of the penis (1 to 2 centimeters). The exact reason for this is not known. - Inguinal hernia (bulging of fat or part of the small intestine through weak muscles into the groin). Inguinal hernia may occur more often in men treated with radical prostatectomy than in men who have some other types of prostate surgery, radiation therapy, or prostate biopsy alone. It is most likely to occur within the first 2 years after radical prostatectomy. Radiation therapy and radiopharmaceutical therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are different types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Conformal radiation is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. Hypofractionated radiation therapy may be given because it has a more convenient treatment schedule. Hypofractionated radiation therapy is radiation treatment in which a larger than usual total dose of radiation is given once a day over a shorter period of time (fewer days) compared to standard radiation therapy. Hypofractionated radiation therapy may have worse side effects than standard radiation therapy, depending on the schedules used. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. In early-stage prostate cancer, the radioactive seeds are placed in the prostate using needles that are inserted through the skin between the scrotum and rectum. The placement of the radioactive seeds in the prostate is guided by images from transrectal ultrasound or computed tomography (CT). The needles are removed after the radioactive seeds are placed in the prostate. - Radiopharmaceutical therapy uses a radioactive substance to treat cancer. Radiopharmaceutical therapy includes the following: - Alpha emitter radiation therapy uses a radioactive substance to treat prostate cancer that has spread to the bone. A radioactive substance called radium-223 is injected into a vein and travels through the bloodstream. The radium-223 collects in areas of bone with cancer and kills the cancer cells. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy, internal radiation therapy, and radiopharmaceutical therapy are used to treat prostate cancer. Men treated with radiation therapy for prostate cancer have an increased risk of having bladder and/or gastrointestinal cancer. Radiation therapy can cause impotence and urinary problems. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. In prostate cancer, male sex hormones can cause prostate cancer to grow. Drugs, surgery, or other hormones are used to reduce the amount of male hormones or block them from working. Hormone therapy for prostate cancer may include the following: - Luteinizing hormone-releasing hormone agonists can stop the testicles from making testosterone. Examples are leuprolide, goserelin, and buserelin. - Antiandrogens can block the action of androgens (hormones that promote male sex characteristics), such as testosterone. Examples are flutamide, bicalutamide, enzalutamide, and nilutamide. - Drugs that can prevent the adrenal glands from making androgens include ketoconazole and aminoglutethimide. - Orchiectomy is a surgical procedure to remove one or both testicles, the main source of male hormones, such as testosterone, to decrease the amount of hormone being made. - Estrogens (hormones that promote female sex characteristics) can prevent the testicles from making testosterone. However, estrogens are seldom used today in the treatment of prostate cancer because of the risk of serious side effects. Hot flashes, impaired sexual function, loss of desire for sex, and weakened bones may occur in men treated with hormone therapy. Other side effects include diarrhea, nausea, and itching. See Drugs Approved for Prostate Cancer for more information. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Prostate Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. Sipuleucel-T is a type of biologic therapy used to treat prostate cancer that has metastasized (spread to other parts of the body). See Drugs Approved for Prostate Cancer for more information. Bisphosphonate therapy Bisphosphonate drugs, such as clodronate or zoledronate, reduce bone disease when cancer has spread to the bone. Men who are treated with antiandrogen therapy or orchiectomy are at an increased risk of bone loss. In these men, bisphosphonate drugs lessen the risk of bone fracture (breaks). The use of bisphosphonate drugs to prevent or slow the growth of bone metastases is being studied in clinical trials. + + + There are treatments for bone pain caused by bone metastases or hormone therapy. + Prostate cancer that has spread to the bone and certain types of hormone therapy can weaken bones and lead to bone pain. Treatments for bone pain include the following: - Pain medicine. - External radiation therapy. - Strontium-89 (a radioisotope). - Targeted therapy with a monoclonal antibody, such as denosumab. - Bisphosphonate therapy. - Corticosteroids. See the PDQ summary on Pain for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy prostate cancer cells. Ultrasound is used to find the area that will be treated. This type of treatment is also called cryotherapy. Cryosurgery can cause impotence and leakage of urine from the bladder or stool from the rectum. High-intensityfocused ultrasound therapy High-intensityfocused ultrasound therapy is a treatment that uses ultrasound (high-energy sound waves) to destroy cancer cells. To treat prostate cancer, an endorectal probe is used to make the sound waves. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that targets tumors with streams of protons (small, positively charged particles). This type of radiation therapy is being studied in the treatment of prostate cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Prostate Cancer + Standard treatment of stage I prostate cancer may include the following: - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - Radical prostatectomy, usually with pelvic lymphadenectomy. Radiation therapy may be given after surgery. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Internal radiation therapy with radioactive seeds. - A clinical trial of high-intensityfocused ultrasound therapy. - A clinical trial of cryosurgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I prostate cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Prostate Cancer + Standard treatment of stage II prostate cancer may include the following: - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - Radical prostatectomy, usually with pelvic lymphadenectomy. Radiation therapy may be given after surgery. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Internal radiation therapy with radioactive seeds. - A clinical trial of cryosurgery. - A clinical trial of high-intensityfocused ultrasound therapy. - A clinical trial of proton beam radiation therapy. - Clinical trials of new types of treatment, such as hormone therapy followed by radical prostatectomy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II prostate cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Prostate Cancer + Standard treatment of stage III prostate cancer may include the following: - External radiation therapy. Hormone therapy may be given after radiation therapy. - Hormone therapy. - Radical prostatectomy. Radiation therapy may be given after surgery. - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. Treatment to control cancer that is in the prostate and lessen urinary symptoms may include the following: - External radiation therapy. - Internal radiation therapy with radioactive seeds. - Hormone therapy. - Transurethral resection of the prostate (TURP). - A clinical trial of new types of radiation therapy. - A clinical trial of cryosurgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III prostate cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Prostate Cancer + Standard treatment of stage IV prostate cancer may include the following: - Hormone therapy. - Hormone therapy combined with chemotherapy. - Bisphosphonate therapy. - External radiation therapy. Hormone therapy may be given after radiation therapy. - Alpha emitter radiation therapy. - Watchful waiting. - Active surveillance. If the cancer begins to grow, hormone therapy may be given. - A clinical trial of radical prostatectomy with orchiectomy. Treatment to control cancer that is in the prostate and lessen urinary symptoms may include the following: - Transurethral resection of the prostate (TURP). - Radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV prostate cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Prostate Cancer +what research (or clinical trials) is being done for Prostate Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Cryosurgery Cryosurgery is a treatment that uses an instrument to freeze and destroy prostate cancer cells. Ultrasound is used to find the area that will be treated. This type of treatment is also called cryotherapy. Cryosurgery can cause impotence and leakage of urine from the bladder or stool from the rectum. High-intensityfocused ultrasound therapy High-intensityfocused ultrasound therapy is a treatment that uses ultrasound (high-energy sound waves) to destroy cancer cells. To treat prostate cancer, an endorectal probe is used to make the sound waves. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that targets tumors with streams of protons (small, positively charged particles). This type of radiation therapy is being studied in the treatment of prostate cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Prostate Cancer +What is (are) Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Key Points + - Osteosarcoma and malignant fibrous histiocytoma (MFH) of the bone are diseases in which malignant (cancer) cells form in bone. - Having past treatment with radiation can increase the risk of osteosarcoma. - Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. - Imaging tests are used to detect (find) osteosarcoma and MFH. - A biopsy is done to diagnose osteosarcoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Osteosarcoma and malignant fibrous histiocytoma (MFH) of the bone are diseases in which malignant (cancer) cells form in bone. + Osteosarcoma usually starts in osteoblasts, which are a type of bone cell that becomes new bone tissue. Osteosarcoma is most common in adolescents. It commonly forms in the ends of the long bones of the body, which include bones of the arms and legs. In children and adolescents, it often forms in the bones near the knee. Rarely, osteosarcoma may be found in soft tissue or organs in the chest or abdomen. Osteosarcoma is the most common type of bone cancer. Malignant fibrous histiocytoma (MFH) of bone is a rare tumor of the bone. It is treated like osteosarcoma. Ewing sarcoma is another kind of bone cancer, but it is not covered in this summary. See the PDQ summary about Ewing Sarcoma Treatment for more information.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +Who is at risk for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone? ?,"Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Risk factors for osteosarcoma include the following: - Past treatment with radiation therapy. - Past treatment with anticancer drugs called alkylating agents. - Having a certain change in the retinoblastoma gene. - Having certain conditions, such as the following: - Bloom syndrome. - Diamond-Blackfan anemia. - Li-Fraumeni syndrome. - Paget disease. - Hereditary retinoblastoma. - Rothmund-Thomson syndrome. - Werner syndrome.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +What are the symptoms of Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,Signs and symptoms of osteosarcoma and MFH include swelling over a bone or a bony part of the body and joint pain. These and other signs and symptoms may be caused by osteosarcoma or MFH or by other conditions. Check with a doctor if your child has any of the following: - Swelling over a bone or bony part of the body. - Pain in a bone or joint. - A bone that breaks for no known reason.,CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +How to diagnose Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Imaging tests are used to detect (find) osteosarcoma and MFH. + Imaging tests are done before the biopsy. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). + + + A biopsy is done to diagnose osteosarcoma. + Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. It is important that the biopsy be done by a surgeon who is an expert in treating cancer of the bone. It is best if that surgeon is also the one who removes the tumor. The biopsy and the surgery to remove the tumor are planned together. The way the biopsy is done affects which type of surgery can be done later. The type of biopsy that is done will be based on the size of the tumor and where it is in the body. There are two types of biopsy that may be used: - Core biopsy : The removal of tissue using a wide needle. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal. The following test may be done on the tissue that is removed: - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +What is the outlook for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) is affected by certain factors before and after treatment. The prognosis of untreated osteosarcoma and MFH depends on the following: - Where the tumor is in the body and whether tumors formed in more than one bone. - The size of the tumor. - Whether the cancer has spread to other parts of the body and where it has spread. - The type of tumor (based on how the cancer cells look under a microscope). - The patient's age and weight at diagnosis. - Whether the tumor has caused a break in the bone. - Whether the patient has certain genetic diseases. After osteosarcoma or MFH is treated, prognosis also depends on the following: - How much of the cancer was killed by chemotherapy. - How much of the tumor was taken out by surgery. - Whether chemotherapy is delayed for more than 3 weeks after surgery takes place. - Whether the cancer has recurred (come back) within 2 years of diagnosis. Treatment options for osteosarcoma and MFH depend on the following: - Where the tumor is in the body. - The size of the tumor. - The stage of the cancer. - Whether the bones are still growing. - The patient's age and general health. - The desire of the patient and family for the patient to be able to participate in activities such as sports or have a certain appearance. - Whether the cancer is newly diagnosed or has recurred after treatment.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +What are the stages of Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Key Points + - After osteosarcoma or malignant fibrous histiocytoma (MFH) has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Osteosarcoma and MFH are described as either localized or metastatic. + + + After osteosarcoma or malignant fibrous histiocytoma (MFH) has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread to other parts of the body is called staging. For osteosarcoma and malignant fibrous histiocytoma (MFH), most patients are grouped according to whether cancer is found in only one part of the body or has spread. The following tests and procedures may be used: - X-ray : An x-ray of the organs, such as the chest, and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. X-rays will be taken of the chest and the area where the tumor formed. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Pictures will be taken of the chest and the area where the tumor formed. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if osteosarcoma spreads to the lung, the cancer cells in the lung are actually osteosarcoma cells. The disease is metastatic osteosarcoma, not lung cancer. + + + Osteosarcoma and MFH are described as either localized or metastatic. + - Localized osteosarcoma or MFH has not spread out of the bone where the cancer started. There may be one or more areas of cancer in the bone that can be removed during surgery. - Metastatic osteosarcoma or MFH has spread from the bone in which the cancer began to other parts of the body. The cancer most often spreads to the lungs. It may also spread to other bones.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +What are the treatments for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Key Points + - There are different types of treatment for patients with osteosarcoma or malignant fibrous histiocytoma (MFH) of bone. - Children with osteosarcoma or MFH should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for osteosarcoma or malignant fibrous histiocytoma may cause side effects. - Four types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Samarium - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with osteosarcoma or malignant fibrous histiocytoma (MFH) of bone. + Different types of treatment are available for children with osteosarcoma or malignant fibrous histiocytoma (MFH) of bone. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with osteosarcoma or MFH should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating osteosarcoma and MFH and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Orthopedic surgeon. - Radiation oncologist. - Rehabilitation specialist. - Pediatric nurse specialist. - Social worker. - Psychologist. + + + Treatment for osteosarcoma or malignant fibrous histiocytoma may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Four types of standard treatment are used: + Surgery Surgery to remove the entire tumor will be done when possible. Chemotherapy may be given before surgery to make the tumor smaller. This is called neoadjuvant chemotherapy. Chemotherapy is given so less bone tissue needs to be removed and there are fewer problems after surgery. The following types of surgery may be done: - Wide local excision: Surgery to remove the cancer and some healthy tissue around it. - Limb-sparing surgery: Removal of the tumor in a limb (arm or leg) without amputation, so the use and appearance of the limb is saved. Most patients with osteosarcoma in a limb can be treated with limb-sparing surgery. The tumor is removed by wide local excision. Tissue and bone that are removed may be replaced with a graft using tissue and bone taken from another part of the patient's body, or with an implant such as artificial bone. If a fracture is found at diagnosis or during chemotherapy before surgery, limb-sparing surgery may still be possible in some cases. If the surgeon is not able to remove all of the tumor and enough healthy tissue around it, an amputation may be done. - Amputation: Surgery to remove part or all of an arm or leg. This may be done when it is not possible to remove all of the tumor in limb-sparing surgery. The patient may be fitted with a prosthesis (artificial limb) after amputation. - Rotationplasty: Surgery to remove the tumor and the knee joint. The part of the leg that remains below the knee is then attached to the part of the leg that remains above the knee, with the foot facing backward and the ankle acting as a knee. A prosthesis may then be attached to the foot. Studies have shown that survival is the same whether the first surgery done is a limb-sparing surgery or an amputation. Even if the doctor removes all the cancer that can be seen at the time of the surgery, patients are also given chemotherapy after surgery to kill any cancer cells that are left in the area where the tumor was removed or that have spread to other parts of the body. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. In the treatment of osteosarcoma and malignant fibrous histiocytosis of bone, chemotherapy is usually given before and after surgery to remove the primary tumor. See Drugs Approved for Bone Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. Osteosarcoma and MFH cells are not killed easily by external radiation therapy. It may be used when a small amount of cancer is left after surgery or used together with other treatments. Samarium Samarium is a radioactive drug that targets areas where bone cells are growing, such as tumor cells in bone. It helps relieve pain caused by cancer in the bone and it also kills blood cells in the bone marrow. It also is used to treat osteosarcoma that has come back after treatment in a different bone. Treatment with samarium may be followed by stem cell transplant. Before treatment with samarium, stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After treatment with samarium is complete, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to find and attack specific cancer cells without harming normal cells. Kinase inhibitor therapy and monoclonal antibody therapy are types of targeted therapy being studied in clinical trials for osteosarcoma. Kinase inhibitor therapy blocks a protein needed for cancer cells to divide. Sorafenib is a type of kinase inhibitor therapy being studied for the treatment of recurrent osteosarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Denosumab, dinutuximab, and glembatumumab are monoclonal antibodies being studied for the treatment of recurrent osteosarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone + + + Localized Osteosarcoma and Malignant Fibrous Histiocytoma of Bone + Treatment may include the following: - Surgery. Combination chemotherapy is usually given before and after surgery. - Surgery followed by radiation therapy when the tumor cannot be completely removed by surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized osteosarcoma and localized childhood malignant fibrous histiocytoma of bone. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Metastatic Osteosarcoma and Malignant Fibrous Histiocytoma of Bone + Lung Metastasis When osteosarcoma or malignant fibrous histiocytoma (MFH) spreads, it usually spreads to the lung. Treatment of osteosarcoma and MFH with lung metastasis may include the following: - Combination chemotherapy followed by surgery to remove the primary cancer and the cancer that has spread to the lung. Bone Metastasis or Bone with Lung Metastasis Osteosarcoma and malignant fibrous histiocytoma may spread to a distant bone and/or the lung. Treatment may include the following: - Combination chemotherapy followed by surgery to remove the primary tumor and the cancer that has spread to other parts of the body. More chemotherapy is given after surgery. - Surgery to remove the primary tumor followed by chemotherapy and surgery to remove cancer that has spread to other parts of the body. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic osteosarcoma and metastatic childhood malignant fibrous histiocytoma of bone. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Osteosarcoma and Malignant Fibrous Histiocytoma of Bone + Treatment of recurrent osteosarcoma and malignant fibrous histiocytoma of bone may include the following: - Surgery to remove the tumor with or without chemotherapy. - Samarium with or without stem cell transplant using the patient's own stem cells, as palliative treatment to relieve pain and improve the quality of life. - A clinical trial of new types of treatment for patients whose cancer cannot be removed by surgery. These may include targeted therapy such as kinase inhibitor therapy or monoclonal antibody therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent osteosarcoma and recurrent childhood malignant fibrous histiocytoma of bone. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +what research (or clinical trials) is being done for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to find and attack specific cancer cells without harming normal cells. Kinase inhibitor therapy and monoclonal antibody therapy are types of targeted therapy being studied in clinical trials for osteosarcoma. Kinase inhibitor therapy blocks a protein needed for cancer cells to divide. Sorafenib is a type of kinase inhibitor therapy being studied for the treatment of recurrent osteosarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Denosumab, dinutuximab, and glembatumumab are monoclonal antibodies being studied for the treatment of recurrent osteosarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",CancerGov,Osteosarcoma and Malignant Fibrous Histiocytoma of Bone +What is (are) Oral Cavity and Oropharyngeal Cancer ?,"Key Points + - Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat. - The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. - Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. + + + Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat. + Oral cavity cancer forms in any of these tissues of the oral cavity: - The front two thirds of the tongue. - The gingiva (gums). - The buccal mucosa (the lining of the inside of the cheeks). - The floor (bottom) of the mouth under the tongue. - The hard palate (the front of the roof of the mouth). - The retromolar trigone (the small area behind the wisdom teeth). Oropharyngeal cancer forms in any of these tissues of the oropharynx: - The middle part of the pharynx (throat) behind the mouth. - The back one third of the tongue. - The soft palate (the back of the roof of the mouth). - The side and back walls of the throat. - The tonsils. Most oral cavity and oropharyngeal cancers start in squamous cells, the thin, flat cells that line the lips, oral cavity, and oropharynx. Cancer that forms in squamous cells is called squamous cell carcinoma. See the following PDQ summaries for more information about the screening, diagnosis, and treatment of oral cavity and oropharyngeal cancer: - Oral Cavity and Oropharyngeal Cancer Prevention - Lip and Oral Cavity Cancer Treatment - Oropharyngeal Cancer Treatment + + + The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. + Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women. Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years. France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries. The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity.",CancerGov,Oral Cavity and Oropharyngeal Cancer +Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?,"The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women. Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years. France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries. The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity.",CancerGov,Oral Cavity and Oropharyngeal Cancer +Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?,"Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for oral cavity and oropharyngeal cancer, see the PDQ summary on Oral Cavity and Oropharyngeal Cancer Prevention.",CancerGov,Oral Cavity and Oropharyngeal Cancer +What is (are) Adult Non-Hodgkin Lymphoma ?,"Key Points + - Adult non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - The major types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. - Non-Hodgkin lymphoma can be indolent or aggressive. - Age, gender, and a weakened immune system can affect the risk of adult non-Hodgkin lymphoma. - Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. - Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Adult non-Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. + Non-Hodgkin lymphoma is a type of cancer that forms in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infection and the growth of tumors. There are three types of lymphocytes: - B lymphocytes that make antibodies to help fight infection. Also called B cells. Most types of non-Hodgkin lymphoma begin in B lymphocytes. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. Also called T cells. - Natural killer cells that attack cancer cells and viruses. Also called NK cells. Non-Hodgkin lymphoma can begin in B lymphocytes, T lymphocytes, or natural killer cells. Lymphocytes can also be found in the blood and also collect in the lymph nodes, spleen, and thymus. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Cancer can spread to the liver and lungs. Non-Hodgkin lymphoma during pregnancy is rare. Non-Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information on the treatment of non-Hodgkin lymphoma during pregnancy (see the Treatment Options for Non-Hodgkin Lymphoma During Pregnancy section for more information). Non-Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) + + + The major types of lymphoma are Hodgkin lymphoma and non-Hodgkin lymphoma. + Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult non-Hodgkin lymphoma. For information about certain types of lymphoma, see the following PDQ summaries: - Adult Acute Lymphoblastic Leukemia Treatment (lymphoblastic lymphoma) - Adult Hodgkin Lymphoma Treatment - AIDS-Related Lymphoma Treatment - Chronic Lymphocytic Leukemia Treatment (small lymphocytic lymphoma) - Mycosis Fungoides and the Szary Syndrome Treatment (cutaneous T-cell lymphoma) - Primary CNS Lymphoma Treatment + + + Non-Hodgkin lymphoma can be indolent or aggressive. + Non-Hodgkin lymphoma grows and spreads at different rates and can be indolent or aggressive. Indolent lymphoma tends to grow and spread slowly, and has few signs and symptoms. Aggressive lymphoma grows and spreads quickly, and has signs and symptoms that can be severe. The treatments for indolent and aggressive lymphoma are different. This summary is about the following types of non-Hodgkin lymphoma: Indolent non-Hodgkin lymphomas - Follicular lymphoma. Follicular lymphoma is the most common type of indolent non-Hodgkin lymphoma. It is a very slow-growing type of non-Hodgkin lymphoma that begins in B lymphocytes. It affects the lymph nodes and may spread to the bone marrow or spleen. Most patients with follicular lymphoma are age 50 years and older when they are diagnosed. Follicular lymphoma may go away without treatment. The patient is closely watched for signs or symptoms that the disease has come back. Treatment is needed if signs or symptoms occur after the cancer disappeared or after initial cancer treatment. Sometimes follicular lymphoma can become a more aggressive type of lymphoma, such as diffuse large B-cell lymphoma. - Lymphoplasmacytic lymphoma. In most cases of lymphoplasmacytic lymphoma, B lymphocytes that are turning into plasma cells make large amounts of a protein called monoclonal immunoglobulin M (IgM) antibody. High levels of IgM antibody in the blood cause the blood plasma to thicken. This may cause signs or symptoms such as trouble seeing or hearing, heart problems, shortness of breath, headache, dizziness, and numbness or tingling of the hands and feet. Sometimes there are no signs or symptoms of lymphoplasmacytic lymphoma. It may be found when a blood test is done for another reason. Lymphoplasmacytic lymphoma often spreads to the bone marrow, lymph nodes, and spleen. It is also called Waldenstrm macroglobulinemia. - Marginal zone lymphoma. This type of non-Hodgkin lymphoma begins in B lymphocytes in a part of lymph tissue called the marginal zone. There are five different types of marginal zone lymphoma. They are grouped by the type of tissue where the lymphoma formed: - Nodal marginal zone lymphoma. Nodal marginal zone lymphoma forms in lymph nodes. This type of non-Hodgkin lymphoma is rare. It is also called monocytoid B-cell lymphoma. - Gastric mucosa-associated lymphoid tissue (MALT) lymphoma. Gastric MALT lymphoma usually begins in the stomach. This type of marginal zone lymphoma forms in cells in the mucosa that help make antibodies. Patients with gastric MALT lymphoma may also have Helicobacter gastritis or an autoimmune disease, such as Hashimoto thyroiditis or Sjgren syndrome. - Extragastric MALT lymphoma. Extragastric MALT lymphoma begins outside of the stomach in almost every part of the body including other parts of the gastrointestinal tract, salivary glands, thyroid, lung, skin, and around the eye. This type of marginal zone lymphoma forms in cells in the mucosa that help make antibodies. Extragastric MALT lymphoma may come back many years after treatment. - Mediterranean abdominal lymphoma. This is a type of MALT lymphoma that occurs in young adults in eastern Mediterranean countries. It often forms in the abdomen and patients may also be infected with bacteria called Campylobacter jejuni. This type of lymphoma is also called immunoproliferative small intestinal disease. - Splenic marginal zone lymphoma. This type of marginal zone lymphoma begins in the spleen and may spread to the peripheral blood and bone marrow. The most common sign of this type of splenic marginal zone lymphoma is a spleen that is larger than normal. - Primary cutaneous anaplastic large cell lymphoma. This type of non-Hodgkin lymphoma is in the skin only. It can be a benign (not cancer) nodule that may go away on its own or it can spread to many places on the skin and need treatment. Aggressive non-Hodgkin lymphomas - Diffuse large B-cell lymphoma. Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma. It grows quickly in the lymph nodes and often the spleen, liver, bone marrow, or other organs are also affected. Signs and symptoms of diffuse large B-cell lymphoma may include fever, recurring night sweats, and weight loss. These are also called B symptoms. Primary mediastinal large B-cell lymphoma is a type of diffuse large B-cell lymphoma. - Primary mediastinal large B-cell lymphoma. This type of non-Hodgkin lymphoma is marked by the overgrowth of fibrous (scar-like) lymph tissue. A tumor most often forms behind the breastbone. It may press on the airways and cause coughing and trouble breathing. Most patients with primary mediastinal large B-cell lymphoma are women who are age 30 to 40 years. - Follicular large cell lymphoma, stage III. Follicular large cell lymphoma, stage III, is a very rare type of non-Hodgkin lymphoma. It is more like diffuse large B-cell lymphoma than other types of follicular lymphoma. - Anaplastic large cell lymphoma. Anaplastic large cell lymphoma is a type of non-Hodgkin lymphoma that usually begins in T lymphocytes. The cancer cells also have a marker called CD30 on the surface of the cell. There are two types of anaplastic large cell lymphoma: - Cutaneous anaplastic large cell lymphoma. This type of anaplastic large cell lymphoma mostly affects the skin, but other parts of the body may also be affected. Signs of cutaneous anaplastic large cell lymphoma include one or more bumps or ulcers on the skin. - Systemic anaplastic large cell lymphoma. This type of anaplastic large cell lymphoma begins in the lymph nodes and may affect other parts of the body. Patients may have a lot of anaplastic lymphoma kinase (ALK) protein inside the lymphoma cells. These patients have a better prognosis than patients who do not have extra ALK protein. Systemic anaplastic large cell lymphoma is more common in children than adults. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) - Extranodal NK -/T-cell lymphoma. Extranodal NK-/T-cell lymphoma usually begins in the area around the nose. It may also affect the paranasal sinus (hollow spaces in the bones around the nose), roof of the mouth, trachea, skin, stomach, and intestines. Most cases of extranodal NK-/T-cell lymphoma have Epstein-Barr virus in the tumor cells. Sometimes hemophagocytic syndrome occurs (a serious condition in which there are too many active histiocytes and T cells that cause severe inflammation in the body). Treatment to suppress the immune system is needed. This type of non-Hodgkin lymphoma is not common in the United States. - Lymphomatoid granulomatosis. Lymphomatoid granulomatosis mostly affects the lungs. It may also affect the paranasal sinuses (hollow spaces in the bones around the nose), skin, kidneys, and central nervous system. In lymphomatoid granulomatosis, cancer invades the blood vessels and kills tissue. Because the cancer may spread to the brain, intrathecal chemotherapy or radiation therapy to the brain is given. - Angioimmunoblastic T-cell lymphoma. This type of non-Hodgkin lymphoma begins in T cells. Swollen lymph nodes are a common sign. Other signs may include a skin rash, fever, weight loss, or night sweats. There may also be high levels of gamma globulin (antibodies) in the blood. Patients may also have opportunistic infections because their immune systems are weakened. - Peripheral T-cell lymphoma. Peripheral T-cell lymphoma begins in mature T lymphocytes. This type of T lymphocyte matures in the thymus gland and travels to other lymphatic sites in the body such as the lymph nodes, bone marrow, and spleen. There are three subtypes of peripheral T-cell lymphoma: - Hepatosplenic T-cell lymphoma. This is an uncommon type of peripheral T-cell lymphoma that occurs mostly in young men. It begins in the liver and spleen and the cancer cells also have a T-cell receptor called gamma/delta on the surface of the cell. - Subcutaneous panniculitis-like T-cell lymphoma. Subcutaneous panniculitis-like T-cell lymphoma begins in the skin or mucosa. It may occur with hemophagocytic syndrome (a serious condition in which there are too many active histiocytes and T cells that cause severe inflammation in the body). Treatment to suppress the immune system is needed. - Enteropathy-type intestinal T-cell lymphoma. This type of peripheral T-cell lymphoma occurs in the small bowel of patients with untreated celiac disease (an immune response to gluten that causes malnutrition). Patients who are diagnosed with celiac disease in childhood and stay on a gluten-free diet rarely develop enteropathy-type intestinal T-cell lymphoma. - Intravascular large B-cell lymphoma. This type of non-Hodgkin lymphoma affects blood vessels, especially the small blood vessels in the brain, kidney, lung, and skin. Signs and symptoms of intravascular large B-cell lymphoma are caused by blocked blood vessels. It is also called intravascular lymphomatosis. - Burkitt lymphoma. Burkitt lymphoma is a type of B-cell non-Hodgkin lymphoma that grows and spreads very quickly. It may affect the jaw, bones of the face, bowel, kidneys, ovaries, or other organs. There are three main types of Burkitt lymphoma (endemic, sporadic, and immunodeficiency related). Endemic Burkitt lymphoma commonly occurs in Africa and is linked to the Epstein-Barr virus, and sporadic Burkitt lymphoma occurs throughout the world. Immunodeficiency-related Burkitt lymphoma is most often seen in patients who have AIDS. Burkitt lymphoma may spread to the brain and spinal cord and treatment to prevent its spread may be given. Burkitt lymphoma occurs most often in children and young adults (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Burkitt lymphoma is also called diffuse small noncleaved-cell lymphoma. - Lymphoblastic lymphoma. Lymphoblastic lymphoma may begin in T cells or B cells, but it usually begins in T cells. In this type of non-Hodgkin lymphoma, there are too many lymphoblasts (immature white blood cells) in the lymph nodes and the thymus gland. These lymphoblasts may spread to other places in the body, such as the bone marrow, brain, and spinal cord. Lymphoblastic lymphoma is most common in teenagers and young adults. It is a lot like acute lymphoblastic leukemia (lymphoblasts are mostly found in the bone marrow and blood). (See the PDQ summary on Adult Acute Lymphoblastic Leukemia Treatment for more information.) - Adult T-cell leukemia/lymphoma. Adult T-cell leukemia/lymphoma is caused by the human T-cell leukemia virus type 1 (HTLV-1). Signs include bone and skin lesions, high blood calcium levels, and lymph nodes, spleen, and liver that are larger than normal. - Mantle cell lymphoma. Mantle cell lymphoma is a type of B-cell non-Hodgkin lymphoma that usually occurs in middle-aged or older adults. It begins in the lymph nodes and spreads to the spleen, bone marrow, blood, and sometimes the esophagus, stomach, and intestines. Patients with mantle cell lymphoma have too much of a protein called cyclin-D1 or a certain gene change in the lymphoma cells. In some patients who do not have signs or symptoms of lymphoma delaying the start of treatment does not affect the prognosis. - Posttransplantation lymphoproliferative disorder. This disease occurs in patients who have had a heart, lung, liver, kidney, or pancreas transplant and need lifelong immunosuppressive therapy. Most posttransplant lymphoproliferative disorders affect the B cells and have Epstein-Barr virus in the cells. Lymphoproliferative disorders are often treated like cancer. - True histiocytic lymphoma. This is a rare, very aggressive type of lymphoma. It is not known whether it begins in B cells or T cells. It does not respond well to treatment with standard chemotherapy. - Primary effusion lymphoma. Primary effusion lymphoma begins in B cells that are found in an area where there is a large build-up of fluid, such as the areas between the lining of the lung and chest wall (pleural effusion), the sac around the heart and the heart (pericardial effusion), or in the abdominal cavity. There is usually no tumor that can be seen. This type of lymphoma often occurs in patients who have AIDS. - Plasmablastic lymphoma. Plasmablastic lymphoma is a type of large B-cell non-Hodgkin lymphoma that is very aggressive. It is most often seen in patients with HIV infection.",CancerGov,Adult Non-Hodgkin Lymphoma +what research (or clinical trials) is being done for Adult Non-Hodgkin Lymphoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Vaccine therapy Vaccine therapy is a type of biologic therapy. Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Vaccine therapy can also be a type of targeted therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Non-Hodgkin Lymphoma +Who is at risk for Adult Non-Hodgkin Lymphoma? ?,"Age, gender, and a weakened immune system can affect the risk of adult non-Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. These and other risk factors may increase the risk of certain types of adult non-Hodgkin lymphoma: - Being older, male, or white. - Having one of the following medical conditions: - An inherited immune disorder (such as hypogammaglobulinemia or Wiskott-Aldrich syndrome). - An autoimmune disease (such as rheumatoid arthritis, psoriasis, or Sjgren syndrome). - HIV/AIDS. - Human T-lymphotrophic virus type I or Epstein-Barr virus infection. - Helicobacter pylori infection. - Taking immunosuppressant drugs after an organ transplant.",CancerGov,Adult Non-Hodgkin Lymphoma +What are the symptoms of Adult Non-Hodgkin Lymphoma ?,"Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. These signs and symptoms may be caused by adult non-Hodgkin lymphoma or by other conditions. Check with your doctor if you have any of the following: - Swelling in the lymph nodes in the neck, underarm, groin, or stomach. - Fever for no known reason. - Recurring night sweats. - Feeling very tired. - Weight loss for no known reason. - Skin rash or itchy skin. - Pain in the chest, abdomen, or bones for no known reason. When fever, night sweats, and weight loss occur together, this group of symptoms is called B symptoms. Other signs and symptoms of adult non-Hodgkin lymphoma may occur and depend on the following: - Where the cancer forms in the body. - The size of the tumor. - How fast the tumor grows.",CancerGov,Adult Non-Hodgkin Lymphoma +How to diagnose Adult Non-Hodgkin Lymphoma ?,"Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. This test is used to diagnose lymphoplasmacytic lymphoma. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Lymph node biopsy: The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of part of a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy: The removal of tissue or fluid using a thin needle. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to take tissue samples to be checked under a microscope for signs of disease. - Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. Tissue samples are taken and checked under a microscope for signs of disease. If cancer is found, the following tests may be done to study the cancer cells: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to look for certain genetic markers. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system. Other tests and procedures may be done depending on the signs and symptoms seen and where the cancer forms in the body.",CancerGov,Adult Non-Hodgkin Lymphoma +What is the outlook for Adult Non-Hodgkin Lymphoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of non-Hodgkin lymphoma. - The amount of lactate dehydrogenase (LDH) in the blood. - Whether there are certain changes in the genes. - The patients age and general health. - Whether the lymphoma has just been diagnosed or has recurred (come back). For non-Hodgkin lymphoma during pregnancy, the treatment options also depend on: - The wishes of the patient. - Which trimester of pregnancy the patient is in. - Whether the baby can be delivered early. Some types of non-Hodgkin lymphoma spread more quickly than others do. Most non-Hodgkin lymphomas that occur during pregnancy are aggressive. Delaying treatment of aggressive lymphoma until after the baby is born may lessen the mother's chance of survival. Immediate treatment is often recommended, even during pregnancy.",CancerGov,Adult Non-Hodgkin Lymphoma +What are the stages of Adult Non-Hodgkin Lymphoma ?,"Key Points + - After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult non-Hodgkin lymphoma may include E and S. - The following stages are used for adult non-Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV - Adult non-Hodgkin lymphomas may be grouped for treatment according to whether the cancer is indolent or aggressive and whether affected lymph nodes are next to each other in the body. + + + After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. + The process used to find out the type of cancer and if cancer cells have spread within the lymph system or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of the tests and procedures done to diagnose non-Hodgkin lymphoma are used to help make decisions about treatment. The following tests and procedures may also be used in the staging process: - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, lymph nodes, and liver, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. For pregnant women with non-Hodgkin lymphoma, staging tests and procedures that protect the baby from the harms of radiation are used. These tests and procedures include MRI, bone marrow aspiration and biopsy, lumbar puncture, and ultrasound. An ultrasound exam is a procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Stages of adult non-Hodgkin lymphoma may include E and S. + Adult non-Hodgkin lymphoma may be described as follows: - E: ""E"" stands for extranodal and means the cancer is found in an area or organ other than the lymph nodes or has spread to tissues beyond, but near, the major lymphatic areas. - S: ""S"" stands for spleen and means the cancer is found in the spleen. + + + The following stages are used for adult non-Hodgkin lymphoma: + Stage I Stage I adult non-Hodgkin lymphoma is divided into stage I and stage IE. - Stage I: Cancer is found in one lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen). - Stage IE: Cancer is found in one organ or area outside the lymph nodes. Stage II Stage II adult non-Hodgkin lymphoma is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm. Cancer is also found outside the lymph nodes in one organ or area on the same side of the diaphragm as the affected lymph nodes. Stage III Stage III adult non-Hodgkin lymphoma is divided into stage III, stage IIIE, stage IIIS, and stage IIIE+S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE+S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV adult non-Hodgkin lymphoma, the cancer: - is found throughout one or more organs that are not part of a lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen), and may be in lymph nodes near those organs; or - is found in one organ that is not part of a lymphatic area and has spread to organs or lymph nodes far away from that organ; or - is found in the liver, bone marrow, cerebrospinal fluid (CSF), or lungs (other than cancer that has spread to the lungs from nearby areas). + + + Adult non-Hodgkin lymphomas may be grouped for treatment according to whether the cancer is indolent or aggressive and whether affected lymph nodes are next to each other in the body. + See the General Information section for more information on the types of indolent (slow-growing) and aggressive (fast-growing) non-Hodgkin lymphoma. Non-Hodgkin lymphoma can also be described as contiguous or noncontiguous: - Contiguous lymphomas: Lymphomas in which the lymph nodes with cancer are next to each other. - Noncontiguous lymphomas: Lymphomas in which the lymph nodes with cancer are not next to each other, but are on the same side of the diaphragm.",CancerGov,Adult Non-Hodgkin Lymphoma +What are the treatments for Adult Non-Hodgkin Lymphoma ?,"Key Points + - There are different types of treatment for patients with non-Hodgkin lymphoma. - Patients with non-Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating lymphomas. - Patients may develop late effects that appear months or years after their treatment for non-Hodgkin lymphoma. - Nine types of standard treatment are used: - Radiation therapy - Chemotherapy - Immunotherapy - Targeted therapy - Plasmapheresis - Watchful waiting - Antibiotic therapy - Surgery - Stem cell transplant - New types of treatment are being tested in clinical trials. - Vaccine therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with non-Hodgkin lymphoma. + Different types of treatment are available for patients with non-Hodgkin lymphoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. For pregnant women with non-Hodgkin lymphoma, treatment is carefully chosen to protect the baby. Treatment decisions are based on the mothers wishes, the stage of the non-Hodgkin lymphoma, and the age of the baby. The treatment plan may change as the signs and symptoms, cancer, and pregnancy change. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Patients with non-Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating lymphomas. + Treatment will be overseen by a medical oncologist, a doctor who specializes in treating cancer, or a hematologist, a doctor who specializes in treating blood cancers. The medical oncologist may refer you to other health care providers who have experience and are experts in treating adult non-Hodgkin lymphoma and who specialize in certain areas of medicine. These may include the following specialists: - Neurosurgeon. - Neurologist. - Radiation oncologist. - Endocrinologist. - Rehabilitation specialist. - Other oncology specialists. + + + Patients may develop late effects that appear months or years after their treatment for non-Hodgkin lymphoma. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Treatment with chemotherapy, radiation therapy, or stem cell transplant for non-Hodgkin lymphoma may increase the risk of late effects. Late effects of cancer treatment may include the following: - Heart problems. - Infertility (inability to have children). - Loss of bone density. - Neuropathy (nerve damage that causes numbness or trouble walking). - A second cancer, such as: - Lung cancer. - Brain cancer. - Kidney cancer. - Bladder cancer. - Melanoma. - Hodgkin lymphoma. - Myelodysplastic syndrome. - Acute myeloid leukemia. Some late effects may be treated or controlled. It is important to talk with your doctor about the effects cancer treatment can have on you. Regular follow-up to check for late effects is important. + + + Nine types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Total-body irradiation is a type of external radiation therapy that is given to the entire body. It may be given before a stem cell transplant. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat adult non-Hodgkin lymphoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life. For pregnant women with non-Hodgkin lymphoma, radiation therapy should be given after delivery, if possible, to avoid any risk to the baby. If treatment is needed right away, pregnant women may decide to continue the pregnancy and receive radiation therapy. However, lead used to shield the baby may not protect it from scattered radiation that could possibly cause cancer in the future. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using two or more anticancer drugs. Steroid drugs may be added, to lessen inflammation and lower the body's immune response. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Intrathecal chemotherapy may also be used in the treatment of lymphoma that first forms in the testicles or sinuses (hollow areas) around the nose, diffuse large B-cell lymphoma, Burkitt lymphoma, lymphoblastic lymphoma, and some aggressive T-cell lymphomas. It is given to lessen the chance that lymphoma cells will spread to the brain and spinal cord. This is called CNS prophylaxis. In pregnant women, the baby is exposed to chemotherapy when the mother is treated, and some anticancer drugs cause birth defects. Because anticancer drugs are passed to the baby through the mother, both must be watched closely when chemotherapy is given. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. Immunomodulators are a type of immunotherapy. Lenalidomide is an immunomodulator used to treat adult non-Hodgkin lymphoma. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy, proteasome inhibitor therapy, and kinase inhibitor therapy are types of targeted therapy used to treat adult non-Hodgkin lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Rituximab is a monoclonal antibody used to treat many types of non-Hodgkin lymphoma. Monoclonal antibodies that have been joined to radioactive material are called radiolabeled monoclonal antibodies. Yttrium Y 90-ibritumomab tiuxetan is an example of a radiolabeled monoclonal antibody. Monoclonal antibodies are given by infusion. Proteasome inhibitor therapy blocks the action of proteasomes in cancer cells and may prevent the growth of tumors. Kinase inhibitor therapy, such as idelalisib, blocks certain proteins, which may help keep lymphoma cells from growing and may kill them. It is used to treat indolent lymphoma. Ibrutinib, a type of Bruton's tyrosine kinase inhibitor therapy, is used to treat lymphoplasmacytic lymphoma and mantle cell lymphoma. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Plasmapheresis If the blood becomes thick with extra antibody proteins and affects circulation, plasmapheresis is done to remove extra plasma and antibody proteins from the blood. In this procedure, blood is removed from the patient and sent through a machine that separates the plasma (the liquid part of the blood) from the blood cells. The patient's plasma contains the unneeded antibodies and is not returned to the patient. The normal blood cells are returned to the bloodstream along with donated plasma or a plasma replacement. Plasmapheresis does not keep new antibodies from forming. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Antibiotic therapy Antibiotic therapy is a treatment that uses drugs to treat infections and cancer caused by bacteria and other microorganisms. See Drugs Approved for Non-Hodgkin Lymphoma for more information. Surgery Surgery may be used to remove the lymphoma in certain patients with indolent or aggressive non-Hodgkin lymphoma. The type of surgery used depends on where the lymphoma formed in the body: - Local excision for certain patients with mucosa-associated lymphoid tissue (MALT) lymphoma, PTLD, and small bowel T-cell lymphoma. - Splenectomy for patients with marginal zone lymphoma of the spleen. Patients who have a heart, lung, liver, kidney, or pancreas transplant usually need to take drugs to suppress their immune system for the rest of their lives. Long-term immunosuppression after an organ transplant can cause a certain type of non-Hodgkin lymphoma called post-transplant lymphoproliferative disorder (PLTD). Small bowel surgery is often needed to diagnose celiac disease in adults who develop a type of T-cell lymphoma. Stem cell transplant Stem cell transplant is a method of giving high doses of chemotherapy and/or total-body irradiation and then replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient (autologous transplant) or a donor (allogeneic transplant) and are frozen and stored. After the chemotherapy and/or radiation therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Vaccine therapy Vaccine therapy is a type of biologic therapy. Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Vaccine therapy can also be a type of targeted therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Non-Hodgkin Lymphoma During Pregnancy + + + Indolent Non-Hodgkin Lymphoma During Pregnancy + Women who have indolent (slow-growing) non-Hodgkin lymphoma during pregnancy may be treated with watchful waiting until after they give birth. (See the Treatment Options for Indolent Non-Hodgkin Lymphoma section for more information.) + + + Aggressive Non-Hodgkin Lymphoma During Pregnancy + Treatment of aggressive non-Hodgkin lymphoma during pregnancy may include the following: - Treatment given right away based on the type of non-Hodgkin lymphoma to increase the mother's chance of survival. Treatment may include combination chemotherapy and rituximab. - Early delivery of the baby followed by treatment based on the type of non-Hodgkin lymphoma. - If in the first trimester of pregnancy, medical oncologists may advise ending the pregnancy so that treatment may begin. Treatment depends on the type of non-Hodgkin lymphoma.",CancerGov,Adult Non-Hodgkin Lymphoma +What is (are) Kaposi Sarcoma ?,"Key Points + - Kaposi sarcoma is a disease in which malignant tumors (cancer) can form in the skin, mucous membranes, lymph nodes, and other organs. - Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. - After Kaposi sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Kaposi sarcoma is a disease in which malignant tumors (cancer) can form in the skin, mucous membranes, lymph nodes, and other organs. + Kaposi sarcoma is a cancer that causes lesions (abnormal tissue) to grow in the skin; the mucous membranes lining the mouth, nose, and throat; lymph nodes; or other organs. The lesions are usually purple and are made of cancer cells, new blood vessels, red blood cells, and white blood cells. Kaposi sarcoma is different from other cancers in that lesions may begin in more than one place in the body at the same time. Human herpesvirus-8 (HHV-8) is found in the lesions of all patients with Kaposi sarcoma. This virus is also called Kaposi sarcoma herpesvirus (KSHV). Most people infected with HHV-8 do not get Kaposi sarcoma. Those infected with HHV-8 who are most likely to develop Kaposi sarcoma have immune systems weakened by disease or by drugs given after an organ transplant. There are several types of Kaposi sarcoma, including: - Classic Kaposi sarcoma. - African Kaposi sarcoma. - Immunosuppressive therapyrelated Kaposi sarcoma. - Epidemic Kaposi sarcoma. - Nonepidemic Kaposi sarcoma. + + + Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking skin and lymph nodes for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. This is used to find Kaposi sarcoma in the lungs. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. One of the following types of biopsies may be done to check for Kaposi sarcoma lesions in the skin: - Excisional biopsy : A scalpel is used to remove the entire skin growth. - Incisional biopsy : A scalpel is used to remove part of a skin growth. - Core biopsy : A wide needle is used to remove part of a skin growth. - Fine-needle aspiration (FNA) biopsy : A thin needle is used to remove part of a skin growth. An endoscopy or bronchoscopy may be done to check for Kaposi sarcoma lesions in the gastrointestinal tract or lungs. - Endoscopy for biopsy: A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the gastrointestinal tract. - Bronchoscopy for biopsy: A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the lungs. + + + After Kaposi sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The following tests and procedures may be used to find out if cancer has spread to other parts of the body: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, liver, and spleen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. This imaging test checks for signs of cancer in the lung, liver, and spleen. - CD34 lymphocyte count: A procedure in which a blood sample is checked to measure the amount of CD34 cells (a type of white blood cell). A lower than normal amount of CD34 cells can be a sign the immune system is not working well. + + + Certain factors affect prognosis (chance of recovery) and treatment options. + The prognosis (chance of recovery) and treatment options depend on the following: - The type of Kaposi sarcoma. - The general health of the patient, especially the patient's immune system. - Whether the cancer has just been diagnosed or has recurred (come back). + + + Classic Kaposi Sarcoma + + + Key Points + - Classic Kaposi sarcoma is found most often in older men of Italian or Eastern European Jewish origin. - Signs of classic Kaposi sarcoma may include slow-growing lesions on the legs and feet. - Another cancer may develop. + + + Classic Kaposi sarcoma is found most often in older men of Italian or Eastern European Jewish origin. + Classic Kaposi sarcoma is a rare disease that gets worse slowly over many years. + + + Signs of classic Kaposi sarcoma may include slow-growing lesions on the legs and feet. + Patients may have one or more red, purple, or brown skin lesions on the legs and feet, most often on the ankles or soles of the feet. Over time, lesions may form in other parts of the body, such as the stomach, intestines, or lymph nodes. The lesions usually don't cause any symptoms, but may grow in size and number over a period of 10 years or more. Pressure from the lesions may block the flow of lymph and blood in the legs and cause painful swelling. Lesions in the digestive tract may cause gastrointestinal bleeding. + + + Another cancer may develop. + Some patients with classic Kaposi sarcoma may develop another type of cancer before the Kaposi sarcoma lesions appear or later in life. Most often, this second cancer is non-Hodgkin lymphoma. Frequent follow-up is needed to watch for these second cancers. + + + + + Epidemic Kaposi Sarcoma + + + Key Points + - Epidemic Kaposi sarcoma is found in patients who have acquired immunodeficiency syndrome (AIDS). - Signs of epidemic Kaposi sarcoma can include lesions that form in many parts of the body. - The use of drug therapy called cART reduces the risk of epidemic Kaposi sarcoma in patients infected with HIV. + + + Epidemic Kaposi sarcoma is found in patients who have acquired immunodeficiency syndrome (AIDS). + Epidemic Kaposi sarcoma occurs in patients who have acquired immunodeficiency syndrome (AIDS). AIDS is caused by the human immunodeficiency virus (HIV), which attacks and weakens the immune system. When the body's immune system is weakened by HIV, infections and cancers such as Kaposi sarcoma can develop. Most cases of epidemic Kaposi sarcoma in the United States have been diagnosed in homosexual or bisexual men infected with HIV. + + + Signs of epidemic Kaposi sarcoma can include lesions that form in many parts of the body. + The signs of epidemic Kaposi sarcoma can include lesions in different parts of the body, including any of the following: - Skin. - Lining of the mouth. - Lymph nodes. - Stomach and intestines. - Lungs and lining of the chest. - Liver. - Spleen. Kaposi sarcoma is sometimes found in the lining of the mouth during a regular dental check-up. In most patients with epidemic Kaposi sarcoma, the disease will spread to other parts of the body over time. Fever, weight loss, or diarrhea can occur. In the later stages of epidemic Kaposi sarcoma, life-threatening infections are common. + + + The use of drug therapy called cART reduces the risk of epidemic Kaposi sarcoma in patients infected with HIV. + Combined antiretroviral therapy (cART) is a combination of several drugs that block HIV and slow down the development of AIDS and AIDS-related Kaposi sarcoma. For information about AIDS and its treatment, see the AIDSinfo website. + + + + + Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking skin and lymph nodes for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. This is used to find Kaposi sarcoma in the lungs. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. One of the following types of biopsies may be done to check for Kaposi sarcoma lesions in the skin: - Excisional biopsy : A scalpel is used to remove the entire skin growth. - Incisional biopsy : A scalpel is used to remove part of a skin growth. - Core biopsy : A wide needle is used to remove part of a skin growth. - Fine-needle aspiration (FNA) biopsy : A thin needle is used to remove part of a skin growth. An endoscopy or bronchoscopy may be done to check for Kaposi sarcoma lesions in the gastrointestinal tract or lungs. - Endoscopy for biopsy: A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the gastrointestinal tract. - Bronchoscopy for biopsy: A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the lungs. + + + After Kaposi sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The following tests and procedures may be used to find out if cancer has spread to other parts of the body: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, liver, and spleen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. This imaging test checks for signs of cancer in the lung, liver, and spleen. - CD34 lymphocyte count: A procedure in which a blood sample is checked to measure the amount of CD34 cells (a type of white blood cell). A lower than normal amount of CD34 cells can be a sign the immune system is not working well. + + + Certain factors affect prognosis (chance of recovery) and treatment options. + The prognosis (chance of recovery) and treatment options depend on the following: - The type of Kaposi sarcoma. - The general health of the patient, especially the patient's immune system. - Whether the cancer has just been diagnosed or has recurred (come back).",CancerGov,Kaposi Sarcoma +How to diagnose Kaposi Sarcoma ?,"Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking skin and lymph nodes for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. This is used to find Kaposi sarcoma in the lungs. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. One of the following types of biopsies may be done to check for Kaposi sarcoma lesions in the skin: - Excisional biopsy : A scalpel is used to remove the entire skin growth. - Incisional biopsy : A scalpel is used to remove part of a skin growth. - Core biopsy : A wide needle is used to remove part of a skin growth. - Fine-needle aspiration (FNA) biopsy : A thin needle is used to remove part of a skin growth. An endoscopy or bronchoscopy may be done to check for Kaposi sarcoma lesions in the gastrointestinal tract or lungs. - Endoscopy for biopsy: A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the gastrointestinal tract. - Bronchoscopy for biopsy: A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the lungs. + - After Kaposi sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. The following tests and procedures may be used to find out if cancer has spread to other parts of the body: - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, liver, and spleen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. This imaging test checks for signs of cancer in the lung, liver, and spleen. - CD34 lymphocyte count: A procedure in which a blood sample is checked to measure the amount of CD34 cells (a type of white blood cell). A lower than normal amount of CD34 cells can be a sign the immune system is not working well.",CancerGov,Kaposi Sarcoma +what research (or clinical trials) is being done for Kaposi Sarcoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy and tyrosine kinase inhibitors (TKIs) are types of targeted therapy being studied in the treatment of Kaposi sarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. These may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is a monoclonal antibody that is being studied in the treatment of Kaposi sarcoma. TKIs are targeted therapy drugs that block signals needed for tumors to grow. Imatinib mesylate is a TKI being studied in the treatment of Kaposi sarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Kaposi Sarcoma +What are the treatments for Kaposi Sarcoma ?,"Key Points + - There are different types of treatment for patients with Kaposi sarcoma. - Treatment of epidemic Kaposi sarcoma combines treatment for Kaposi sarcoma with treatment for AIDS. - Four types of standard treatment are used to treat Kaposi sarcoma: - Radiation therapy - Surgery - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Targeted therapy - Treatment for Kaposi sarcoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with Kaposi sarcoma. + Different types of treatments are available for patients with Kaposi sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Treatment of epidemic Kaposi sarcoma combines treatment for Kaposi sarcoma with treatment for AIDS. + For the treatment of epidemic Kaposi sarcoma, combined antiretroviral therapy (cART) is used to slow the progression of AIDS. cART may be combined with anticancer drugs and medicines that prevent and treat infections. + + + Four types of standard treatment are used to treat Kaposi sarcoma: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. Certain types of external radiation therapy are used to treat Kaposi sarcoma lesions. Photon radiation therapy treats lesions with high-energy light. Electron beam radiation therapy uses tiny negatively charged particles called electrons. Surgery The following surgical procedures may be used for Kaposi sarcoma to treat small, surface lesions: - Local excision: The cancer is cut from the skin along with a small amount of normal tissue around it. - Electrodesiccation and curettage: The tumor is cut from the skin with a curette (a sharp, spoon-shaped tool). A needle-shaped electrode is then used to treat the area with an electric current that stops the bleeding and destroys cancer cells that remain around the edge of the wound. The process may be repeated one to three times during the surgery to remove all of the cancer. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, tissue, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). In electrochemotherapy, intravenous chemotherapy is given and a probe is used to send electric pulses to the tumor. The pulses make an opening in the membrane around the tumor cell and allow the chemotherapy to get inside. Electrochemotherapy is being studied in the treatment of Kaposi sarcoma. The way the chemotherapy is given depends on where the Kaposi sarcoma lesions occur in the body. In Kaposi sarcoma, chemotherapy may be given in the following ways: - For local Kaposi sarcoma lesions, such as in the mouth, anticancer drugs may be injected directly into the lesion (intralesional chemotherapy). - For local lesions on the skin, a topical agent may be applied to the skin as a gel. Electrochemotherapy may also be used. - For widespread lesions on the skin, intravenous chemotherapy may be given. Liposomal chemotherapy uses liposomes (very tiny fat particles) to carry anticancer drugs. Liposomal doxorubicin is used to treat Kaposi sarcoma. The liposomes build up in Kaposi sarcoma tissue more than in healthy tissue, and the doxorubicin is released slowly. This increases the effect of the doxorubicin and causes less damage to healthy tissue. See Drugs Approved for Kaposi Sarcoma for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon alfa is a biologic agent used to treat Kaposi sarcoma. See Drugs Approved for Kaposi Sarcoma for more information. + + + Treatment for Kaposi sarcoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy and tyrosine kinase inhibitors (TKIs) are types of targeted therapy being studied in the treatment of Kaposi sarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. These may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is a monoclonal antibody that is being studied in the treatment of Kaposi sarcoma. TKIs are targeted therapy drugs that block signals needed for tumors to grow. Imatinib mesylate is a TKI being studied in the treatment of Kaposi sarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Kaposi Sarcoma + + + Classic Kaposi Sarcoma + Treatment for single lesions may include the following: - Radiation therapy. - Surgery. Treatment for lesions all over the body may include the following: - Radiation therapy. - Chemotherapy. - A clinical trial of electrochemotherapy. Treatment for Kaposi sarcoma that affects lymph nodes or the gastrointestinal tract usually includes chemotherapy with or without radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with classic Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Immunosuppressive Therapyrelated Kaposi Sarcoma + Treatment for immunosuppressive therapyrelated Kaposi sarcoma may include the following: - Stopping or reducing immunosuppressive drug therapy. - Radiation therapy. - Chemotherapy using one or more anticancer drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with immunosuppressive treatment related Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Epidemic Kaposi Sarcoma + Treatment for epidemic Kaposi sarcoma may include the following: - Surgery, including local excision or electrodesiccation and curettage. - Cryosurgery. - Radiation therapy. - Chemotherapy using one or more anticancer drugs. - Biologic therapy. - A clinical trial of new drug therapy, biologic therapy, or targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with AIDS-related Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Kaposi Sarcoma + Treatment for recurrent Kaposi sarcoma depends on which type of Kaposi sarcoma the patient has. Treatment may include a clinical trial of a new therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent Kaposi sarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Kaposi Sarcoma +What is (are) Liver (Hepatocellular) Cancer ?,"Key Points + - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is not common in the United States. - Being infected with certain types of the hepatitis virus can cause hepatitis and increase the risk of liver cancer. - Hepatitis A - Hepatitis B - Hepatitis C - Hepatitis D - Hepatitis E - Hepatitis G + + + Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. + The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fats from food. - To store glycogen (sugar), which the body uses for energy. See the following PDQ summaries for more information about liver (hepatocellular) cancer: - Liver (Hepatocellular) Cancer Screening - Adult Primary Liver Cancer Treatment - Childhood Liver Cancer Treatment + + + Liver cancer is not common in the United States. + Liver cancer is the fourth most common cancer and the third leading cause of cancer death in the world. In the United States, men, especially Asian/Pacific Islander men, have an increased risk of liver cancer. The number of new cases of liver cancer and the number of deaths from liver cancer continue to increase, especially among middle-aged black, Hispanic, and white men. People are usually older than 40 years when they develop this cancer. Finding and treating liver cancer early may prevent death from liver cancer.",CancerGov,Liver (Hepatocellular) Cancer +Who is at risk for Liver (Hepatocellular) Cancer? ?,"Being infected with certain types of the hepatitis virus can cause hepatitis and increase the risk of liver cancer. + Hepatitis is most commonly caused by the hepatitis virus. Hepatitis is a disease that causes inflammation (swelling) of the liver. Damage to the liver from hepatitis that lasts a long time can increase the risk of liver cancer. There are six types of the hepatitis virus. Hepatitis A (HAV), hepatitis B (HBV), and hepatitis C (HCV) are the three most common types. These three viruses cause similar symptoms, but the ways they spread and affect the liver are different. The Hepatitis A vaccine and the hepatitis B vaccine prevent infection with hepatitis A and hepatitis B. There is no vaccine to prevent infection with hepatitis C. If a person has had one type of hepatitis in the past, it is still possible to get the other types. Hepatitis viruses include: Hepatitis A Hepatitis A is caused by eating food or drinking water infected with hepatitis A virus. It does not lead to chronic disease. People with hepatitis A usually get better without treatment. Hepatitis B Hepatitis B is caused by contact with the blood, semen, or other body fluid of a person infected with hepatitis B virus. It is a serious infection that may become chronic and cause scarring of the liver (cirrhosis). This may lead to liver cancer. Blood banks test all donated blood for hepatitis B, which greatly lowers the risk of getting the virus from blood transfusions. Hepatitis C Hepatitis C is caused by contact with the blood of a person infected with hepatitis C virus. Hepatitis C may range from a mild illness that lasts a few weeks to a serious, lifelong illness. Most people who have hepatitis C develop a chronic infection that may cause scarring of the liver (cirrhosis). This may lead to liver cancer. Blood banks test all donated blood for hepatitis C, which greatly lowers the risk of getting the virus from blood transfusions. Hepatitis D Hepatitis D develops in people already infected with hepatitis B. It is caused by hepatitis D virus (HDV) and is spread through contact with infected blood or dirty needles, or by having unprotected sex with a person infected with HDV. Hepatitis D causes acute hepatitis. Hepatitis E Hepatitis E is caused by hepatitis E virus (HEV). Hepatitis E can be spread through oral- anal contact or by drinking infected water. Hepatitis E is rare in the United States. Hepatitis G Being infected with hepatitis G virus (HGV) has not been shown to cause liver cancer. + + + Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors may increase the risk of liver cancer: - Hepatitis B and C - Cirrhosis - Aflatoxin - The following protective factor may decrease the risk of liver cancer: - Hepatitis B vaccine - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent liver cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors may increase the risk of liver cancer: + Hepatitis B and C Having chronic hepatitis B or chronic hepatitis C increases the risk of developing liver cancer. The risk is even greater for people with both hepatitis B and C. Also, the longer the hepatitis infection lasts (especially hepatitis C), the greater the risk. In a study of patients with chronic hepatitis C, those who were treated to lower their iron levels by having blood drawn and eating a low-iron diet were less likely to develop liver cancer than those who did not have this treatment. Cirrhosis The risk of developing liver cancer is increased for people who have cirrhosis, a disease in which healthy liver tissue is replaced by scar tissue. The scar tissue blocks the flow of blood through the liver and keeps it from working as it should. Chronic alcoholism and chronic hepatitis C are the most common causes of cirrhosis. Aflatoxin The risk of developing liver cancer may be increased by eating foods that contain aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).",CancerGov,Liver (Hepatocellular) Cancer +How to prevent Liver (Hepatocellular) Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors may increase the risk of liver cancer: - Hepatitis B and C - Cirrhosis - Aflatoxin - The following protective factor may decrease the risk of liver cancer: - Hepatitis B vaccine - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent liver cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors may increase the risk of liver cancer: + Hepatitis B and C Having chronic hepatitis B or chronic hepatitis C increases the risk of developing liver cancer. The risk is even greater for people with both hepatitis B and C. Also, the longer the hepatitis infection lasts (especially hepatitis C), the greater the risk. In a study of patients with chronic hepatitis C, those who were treated to lower their iron levels by having blood drawn and eating a low-iron diet were less likely to develop liver cancer than those who did not have this treatment. Cirrhosis The risk of developing liver cancer is increased for people who have cirrhosis, a disease in which healthy liver tissue is replaced by scar tissue. The scar tissue blocks the flow of blood through the liver and keeps it from working as it should. Chronic alcoholism and chronic hepatitis C are the most common causes of cirrhosis. Aflatoxin The risk of developing liver cancer may be increased by eating foods that contain aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly). + + + The following protective factor may decrease the risk of liver cancer: + Hepatitis B vaccine Preventing hepatitis B infection (by being vaccinated for hepatitis B) has been shown to lower the risk of liver cancer in children. It is not yet known if it lowers the risk in adults. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent liver cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for liver cancer prevention trials that are now accepting patients.",CancerGov,Liver (Hepatocellular) Cancer +what research (or clinical trials) is being done for Liver (Hepatocellular) Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent liver cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for liver cancer prevention trials that are now accepting patients.",CancerGov,Liver (Hepatocellular) Cancer +What is (are) Chronic Lymphocytic Leukemia ?,"Key Points + - Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Older age can affect the risk of developing chronic lymphocytic leukemia. - Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness. - Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia. - Certain factors affect treatment options and prognosis (chance of recovery). + + + Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). + Chronic lymphocytic leukemia (also called CLL) is a blood and bone marrow disease that usually gets worse slowly. CLL is one of the most common types of leukemia in adults. It often occurs during or after middle age; it rarely occurs in children. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + Normally, the body makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make antibodies to fight infection. - Natural killer cells that attack cancer cells and viruses. In CLL, too many blood stem cells become abnormal lymphocytes and do not become healthy white blood cells. The abnormal lymphocytes may also be called leukemia cells. The lymphocytes are not able to fight infection very well. Also, as the number of lymphocytes increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. This summary is about chronic lymphocytic leukemia. See the following PDQ summaries for more information about leukemia: - Adult Acute Lymphoblastic Leukemia Treatment. - Childhood Acute Lymphoblastic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Myelogenous Leukemia Treatment. - Hairy Cell Leukemia Treatment.",CancerGov,Chronic Lymphocytic Leukemia +Who is at risk for Chronic Lymphocytic Leukemia? ?,"Older age can affect the risk of developing chronic lymphocytic leukemia. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for CLL include the following: - Being middle-aged or older, male, or white. - A family history of CLL or cancer of the lymph system. - Having relatives who are Russian Jews or Eastern European Jews.",CancerGov,Chronic Lymphocytic Leukemia +What are the symptoms of Chronic Lymphocytic Leukemia ?,"Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness. Usually CLL does not cause any signs or symptoms and is found during a routine blood test. Signs and symptoms may be caused by CLL or by other conditions. Check with your doctor if you have any of the following: - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin. - Feeling very tired. - Pain or fullness below the ribs. - Fever and infection. - Weight loss for no known reason.",CancerGov,Chronic Lymphocytic Leukemia +How to diagnose Chronic Lymphocytic Leukemia ?,"Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer), they are checked to see if they are B lymphocytes or T lymphocytes. - FISH (fluorescence in situ hybridization): A laboratory technique used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA bind to specific genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - IgVH gene mutation test: A laboratory test done on a bone marrow or blood sample to check for an IgVH gene mutation. Patients with an IgVH gene mutation have a better prognosis. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells.",CancerGov,Chronic Lymphocytic Leukemia +What is the outlook for Chronic Lymphocytic Leukemia ?,"Certain factors affect treatment options and prognosis (chance of recovery). Treatment options depend on: - The stage of the disease. - Red blood cell, white blood cell, and platelet blood counts. - Whether there are signs or symptoms, such as fever, chills, or weight loss. - Whether the liver, spleen, or lymph nodes are larger than normal. - The response to initial treatment. - Whether the CLL has recurred (come back). The prognosis (chance of recovery) depends on: - Whether there is a change in the DNA and the type of change, if there is one. - Whether lymphocytes are spread throughout the bone marrow. - The stage of the disease. - Whether the CLL gets better with treatment or has recurred (come back). - Whether the CLL progresses to lymphoma or prolymphocytic leukemia. - The patient's general health.",CancerGov,Chronic Lymphocytic Leukemia +what research (or clinical trials) is being done for Chronic Lymphocytic Leukemia ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy with stem cell transplant Chemotherapy with stem cell transplant is a method of giving chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of chronic lymphocytic leukemia. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Chronic Lymphocytic Leukemia +What are the treatments for Chronic Lymphocytic Leukemia ?,"Key Points + - There are different types of treatment for patients with chronic lymphocytic leukemia. - Five types of standard treatment are used: - Watchful waiting - Radiation therapy - Chemotherapy - Surgery - Targeted therapy - New types of treatment are being tested in clinical trials. - Chemotherapy with stem cell transplant - Biologic therapy - Chimeric antigen receptor (CAR) T-cell therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with chronic lymphocytic leukemia. + Different types of treatment are available for patients with chronic lymphocytic leukemia. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. This is also called observation. During this time, problems caused by the disease, such as infection, are treated. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat chronic lymphocytic leukemia. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, or the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Chronic Lymphocytic Leukemia for more information. Surgery Splenectomy is surgery to remove the spleen. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy, tyrosine kinase inhibitor therapy, and BCL2 inhibitor therapy are types of targeted therapy used in the treatment of chronic lymphocytic leukemia. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances in the body that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Tyrosine kinase inhibitor therapy is a cancer treatment that blocks signals needed for tumors to grow. BCL2 inhibitor therapy is a cancer treatment that blocks a protein called BCL2. BCL2 inhibitor therapy may kill cancer cells and may make them more sensitive to other anticancer drugs. See Drugs Approved for Chronic Lymphocytic Leukemia for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy with stem cell transplant Chemotherapy with stem cell transplant is a method of giving chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of chronic lymphocytic leukemia. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + Stage 0 Chronic Lymphocytic Leukemia + Treatment of stage 0 chronic lymphocytic leukemia is usually watchful waiting. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 chronic lymphocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + Stage I, Stage II, Stage III, and Stage IV Chronic Lymphocytic Leukemia + Treatment of stage I, stage II, stage III, and stage IV chronic lymphocytic leukemia may include the following: - Watchful waiting when there are few or no signs or symptoms. - Targeted therapy with a monoclonal antibody, a tyrosine kinase inhibitor, or a BCL2 inhibitor. - Chemotherapy with 1 or more drugs, with or without steroids or monoclonal antibody therapy. - Low-dose external radiation therapy to areas of the body where cancer is found, such as the spleen or lymph nodes. - A clinical trial of chemotherapy and biologic therapy with stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I chronic lymphocytic leukemia, stage II chronic lymphocytic leukemia, stage III chronic lymphocytic leukemia and stage IV chronic lymphocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Lymphocytic Leukemia +What is (are) Adult Central Nervous System Tumors ?,"Key Points + - An adult central nervous system tumor is a disease in which abnormal cells form in the tissues of the brain and/or spinal cord. - A tumor that starts in another part of the body and spreads to the brain is called a metastatic brain tumor. - The brain controls many important body functions. - The spinal cord connects the brain to nerves in most parts of the body. - There are different types of brain and spinal cord tumors. - Astrocytic Tumors - Oligodendroglial Tumors - Mixed Gliomas - Ependymal Tumors - Medulloblastomas - Pineal Parenchymal Tumors - Meningeal Tumors - Germ Cell Tumors - Craniopharyngioma (Grade I) - Having certain genetic syndromes may increase the risk of a central nervous system tumor. - The cause of most adult brain and spinal cord tumors is not known. - The signs and symptoms of adult brain and spinal cord tumors are not the same in every person. - Tests that examine the brain and spinal cord are used to diagnose adult brain and spinal cord tumors. - A biopsy is also used to diagnose a brain tumor. - Sometimes a biopsy or surgery cannot be done. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + An adult central nervous system tumor is a disease in which abnormal cells form in the tissues of the brain and/or spinal cord. + There are many types of brain and spinal cord tumors. The tumors are formed by the abnormal growth of cells and may begin in different parts of the brain or spinal cord. Together, the brain and spinal cord make up the central nervous system (CNS). The tumors may be either benign (not cancer) or malignant (cancer): - Benign brain and spinal cord tumors grow and press on nearby areas of the brain. They rarely spread into other tissues and may recur (come back). - Malignant brain and spinal cord tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors cause signs and symptoms and need treatment. Brain and spinal cord tumors can occur in both adults and children. However, treatment for children may be different than treatment for adults. (See the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview for more information on the treatment of children.) For information about lymphoma that begins in the brain, see the PDQ summary on Primary CNS Lymphoma Treatment. + + + A tumor that starts in another part of the body and spreads to the brain is called a metastatic brain tumor. + Tumors that start in the brain are called primary brain tumors. Primary brain tumors may spread to other parts of the brain or to the spine. They rarely spread to other parts of the body. Often, tumors found in the brain have started somewhere else in the body and spread to one or more parts of the brain. These are called metastatic brain tumors (or brain metastases). Metastatic brain tumors are more common than primary brain tumors. Up to half of metastatic brain tumors are from lung cancer. Other types of cancer that commonly spread to the brain include: - Melanoma. - Breast cancer. - Colon cancer. - Kidney cancer. - Nasopharyngeal cancer. - Cancer of unknown primary site. Cancer may spread to the leptomeninges (the two innermost membranes covering the brain and spinal cord). This is called leptomeningeal carcinomatosis. The most common cancers that spread to the leptomeninges include: - Breast cancer. - Lung cancer. - Leukemia. - Lymphoma. See the following for more information from PDQ about cancers that commonly spread to the brain or spinal cord: - Adult Hodgkin Lymphoma Treatment - Adult Non-Hodgkin Lymphoma Treatment - Breast Cancer Treatment - Carcinoma of Unknown Primary Treatment - Colon Cancer Treatment - Leukemia Home Page - Melanoma Treatment - Nasopharyngeal Cancer Treatment - Non-Small Cell Lung Cancer Treatment - Renal Cell Cancer Treatment - Small Cell Lung Cancer Treatment + + + The brain controls many important body functions. + The brain has three major parts: - The cerebrum is the largest part of the brain. It is at the top of the head. The cerebrum controls thinking, learning, problem solving, emotions, speech, reading, writing, and voluntary movement. - The cerebellum is in the lower back of the brain (near the middle of the back of the head). It controls movement, balance, and posture. - The brain stem connects the brain to the spinal cord. It is in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used to see, hear, walk, talk, and eat. + + + The spinal cord connects the brain to nerves in most parts of the body. + The spinal cord is a column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. These membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch. + + + There are different types of brain and spinal cord tumors. + Brain and spinal cord tumors are named based on the type of cell they formed in and where the tumor first formed in the CNS. The grade of a tumor may be used to tell the difference between slow-growing and fast-growing types of the tumor. The World Health Organization (WHO) tumor grades are based on how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. WHO Tumor Grading System - Grade I (low-grade) The tumor cells look more like normal cells under a microscope and grow and spread more slowly than grade II, III, and IV tumor cells. They rarely spread into nearby tissues. Grade I brain tumors may be cured if they are completely removed by surgery. - Grade II The tumor cells grow and spread more slowly than grade III and IV tumor cells. They may spread into nearby tissue and may recur (come back). Some tumors may become a higher-grade tumor. - Grade III The tumor cells look very different from normal cells under a microscope and grow more quickly than grade I and II tumor cells. They are likely to spread into nearby tissue. - Grade IV (high-grade) The tumor cells do not look like normal cells under a microscope and grow and spread very quickly. There may be areas of dead cells in the tumor. Grade IV tumors usually cannot be cured. The following types of primary tumors can form in the brain or spinal cord: Astrocytic Tumors An astrocytic tumor begins in star-shaped brain cells called astrocytes, which help keep nerve cells healthy. An astrocyte is a type of glial cell. Glial cells sometimes form tumors called gliomas. Astrocytic tumors include the following: - Brain stem glioma (usually high grade): A brain stem glioma forms in the brain stem, which is the part of the brain connected to the spinal cord. It is often a high-grade tumor, which spreads widely through the brain stem and is hard to cure. Brain stem gliomas are rare in adults. (See the PDQ summary on Childhood Brain Stem Glioma Treatment for more information.) - Pineal astrocytic tumor (any grade): A pineal astrocytic tumor forms in tissue around the pineal gland and may be any grade. The pineal gland is a tiny organ in the brain that makes melatonin, a hormone that helps control the sleeping and waking cycle. - Pilocytic astrocytoma (grade I): A pilocytic astrocytoma grows slowly in the brain or spinal cord. It may be in the form of a cyst and rarely spreads into nearby tissues. Pilocytic astrocytomas can often be cured. - Diffuse astrocytoma (grade II): A diffuse astrocytoma grows slowly, but often spreads into nearby tissues. The tumor cells look something like normal cells. In some cases, a diffuse astrocytoma can be cured. It is also called a low-grade diffuse astrocytoma. - Anaplastic astrocytoma (grade III): An anaplastic astrocytoma grows quickly and spreads into nearby tissues. The tumor cells look different from normal cells. This type of tumor usually cannot be cured. An anaplastic astrocytoma is also called a malignant astrocytoma or high-grade astrocytoma. - Glioblastoma (grade IV): A glioblastoma grows and spreads very quickly. The tumor cells look very different from normal cells. This type of tumor usually cannot be cured. It is also called glioblastoma multiforme. See the PDQ summary on Childhood Astrocytomas Treatment for more information about astrocytomas in children. Oligodendroglial Tumors An oligodendroglial tumor begins in brain cells called oligodendrocytes, which help keep nerve cells healthy. An oligodendrocyte is a type of glial cell. Oligodendrocytes sometimes form tumors called oligodendrogliomas. Grades of oligodendroglial tumors include the following: - Oligodendroglioma (grade II): An oligodendroglioma grows slowly, but often spreads into nearby tissues. The tumor cells look something like normal cells. In some cases, an oligodendroglioma can be cured. - Anaplastic oligodendroglioma (grade III): An anaplastic oligodendroglioma grows quickly and spreads into nearby tissues. The tumor cells look different from normal cells. This type of tumor usually cannot be cured. See the PDQ summary on Childhood Astrocytomas Treatment for more information about oligodendroglial tumors in children. Mixed Gliomas A mixed glioma is a brain tumor that has two types of tumor cells in it oligodendrocytes and astrocytes. This type of mixed tumor is called an oligoastrocytoma. - Oligoastrocytoma (grade II): An oligoastrocytoma is a slow-growing tumor. The tumor cells look something like normal cells. In some cases, an oligoastrocytoma can be cured. - Anaplastic oligoastrocytoma (grade III): An anaplastic oligoastrocytoma grows quickly and spreads into nearby tissues. The tumor cells look different from normal cells. This type of tumor has a worse prognosis than oligoastrocytoma (grade II). See the PDQ summary on Childhood Astrocytomas Treatment for more information about mixed gliomas in children. Ependymal Tumors An ependymal tumor usually begins in cells that line the fluid -filled spaces in the brain and around the spinal cord. An ependymal tumor may also be called an ependymoma. Grades of ependymomas include the following: - Ependymoma (grade I or II): A grade I or II ependymoma grows slowly and has cells that look something like normal cells. There are two types of grade I ependymoma myxopapillary ependymoma and subependymoma. A grade II ependymoma grows in a ventricle (fluid-filled space in the brain) and its connecting paths or in the spinal cord. In some cases, a grade I or II ependymoma can be cured. - Anaplastic ependymoma (grade III): An anaplastic ependymoma grows quickly and spreads into nearby tissues. The tumor cells look different from normal cells. This type of tumor usually has a worse prognosis than a grade I or II ependymoma. See the PDQ summary on Childhood Ependymoma Treatment for more information about ependymoma in children. Medulloblastomas A medulloblastoma is a type of embryonal tumor. Medulloblastomas are most common in children or young adults. See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information about medulloblastomas in children. Pineal Parenchymal Tumors A pineal parenchymal tumor forms in parenchymal cells or pineocytes, which are the cells that make up most of the pineal gland. These tumors are different from pineal astrocytic tumors. Grades of pineal parenchymal tumors include the following: - Pineocytoma (grade II): A pineocytoma is a slow-growing pineal tumor. - Pineoblastoma (grade IV): A pineoblastoma is a rare tumor that is very likely to spread. See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information about pineal parenchymal tumors in children. Meningeal Tumors A meningeal tumor, also called a meningioma, forms in the meninges (thin layers of tissue that cover the brain and spinal cord). It can form from different types of brain or spinal cord cells. Meningiomas are most common in adults. Types of meningeal tumors include the following: - Meningioma (grade I): A grade I meningioma is the most common type of meningeal tumor. A grade I meningioma is a slow-growing tumor. It forms most often in the dura mater. A grade I meningioma can be cured if it is completely removed by surgery. - Meningioma (grade II and III): This is a rare meningeal tumor. It grows quickly and is likely to spread within the brain and spinal cord. The prognosis is worse than a grade I meningioma because the tumor usually cannot be completely removed by surgery. A hemangiopericytoma is not a meningeal tumor but is treated like a grade II or III meningioma. A hemangiopericytoma usually forms in the dura mater. The prognosis is worse than a grade I meningioma because the tumor usually cannot be completely removed by surgery. Germ Cell Tumors A germ cell tumor forms in germ cells, which are the cells that develop into sperm in men or ova (eggs) in women. There are different types of germ cell tumors. These include germinomas, teratomas, embryonal yolk sac carcinomas, and choriocarcinomas. Germ cell tumors can be either benign or malignant. See the PDQ summary on Childhood Central Nervous System Germ Cell Tumors Treatment for more information about childhood germ cell tumors in the brain. Craniopharyngioma (Grade I) A craniopharyngioma is a rare tumor that usually forms in the center of the brain just above the pituitary gland (a pea-sized organ at the bottom of the brain that controls other glands). Craniopharyngiomas can form from different types of brain or spinal cord cells. See the PDQ summary on Childhood Craniopharyngioma Treatment for more information about craniopharyngioma in children.",CancerGov,Adult Central Nervous System Tumors +Who is at risk for Adult Central Nervous System Tumors? ?,"Having certain genetic syndromes may increase the risk of a central nervous system tumor. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. There are few known risk factors for brain tumors. The following conditions may increase the risk of certain types of brain tumors: - Being exposed to vinyl chloride may increase the risk of glioma. - Infection with the Epstein-Barr virus, having AIDS (acquired immunodeficiency syndrome), or receiving an organ transplant may increase the risk of primary CNS lymphoma. (See the PDQ summary on Primary CNS Lymphoma for more information.) - Having certain genetic syndromes may increase the risk brain tumors: - Neurofibromatosis type 1 (NF1) or 2 (NF2). - von Hippel-Lindau disease. - Tuberous sclerosis. - Li-Fraumeni syndrome. - Turcot syndrome type 1 or 2. - Nevoid basal cell carcinoma syndrome.",CancerGov,Adult Central Nervous System Tumors +What causes Adult Central Nervous System Tumors ?,The cause of most adult brain and spinal cord tumors is not known.,CancerGov,Adult Central Nervous System Tumors +What are the symptoms of Adult Central Nervous System Tumors ?,"The signs and symptoms of adult brain and spinal cord tumors are not the same in every person. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - What the affected part of the brain controls. - The size of the tumor. Signs and symptoms may be caused by CNS tumors or by other conditions, including cancer that has spread to the brain. Check with your doctor if you have any of the following: Brain Tumor Symptoms - Morning headache or headache that goes away after vomiting. - Seizures. - Vision, hearing, and speech problems. - Loss of appetite. - Frequent nausea and vomiting. - Changes in personality, mood, ability to focus, or behavior. - Loss of balance and trouble walking. - Weakness. - Unusual sleepiness or change in activity level. Spinal Cord Tumor Symptoms - Back pain or pain that spreads from the back towards the arms or legs. - A change in bowel habits or trouble urinating. - Weakness or numbness in the arms or legs. - Trouble walking.",CancerGov,Adult Central Nervous System Tumors +How to diagnose Adult Central Nervous System Tumors ?,"Tests that examine the brain and spinal cord are used to diagnose adult brain and spinal cord tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). Any loss of vision may be a sign of a tumor that has damaged or pressed on the parts of the brain that affect eyesight. - Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. This test may be done to diagnose a germ cell tumor. - Gene testing : A laboratory test in which a sample of blood or tissue is tested for changes in a chromosome that has been linked with a certain type of brain tumor. This test may be done to diagnose an inherited syndrome. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). MRI is often used to diagnose tumors in the spinal cord. Sometimes a procedure called magnetic resonance spectroscopy (MRS) is done during the MRI scan. An MRS is used to diagnose tumors, based on their chemical make-up. - SPECT scan (single photon emission computed tomography scan): A procedure that uses a special camera linked to a computer to make a 3-dimensional (3-D) picture of the brain. A very small amount of a radioactive substance is injected into a vein or inhaled through the nose. As the substance travels through the blood, the camera rotates around the head and takes pictures of the brain. Blood flow and metabolism are higher than normal in areas where cancer cells are growing. These areas will show up brighter in the picture. This procedure may be done just before or after a CT scan. SPECT is used to tell the difference between a primary tumor and a tumor that has spread to the brain from somewhere else in the body. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the brain. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. PET is used to tell the difference between a primary tumor and a tumor that has spread to the brain from somewhere else in the body. + A biopsy is also used to diagnose a brain tumor. If imaging tests show there may be a brain tumor, a biopsy is usually done. One of the following types of biopsies may be used: - Stereotactic biopsy : When imaging tests show there may be a tumor deep in the brain in a hard to reach place, a stereotactic brain biopsy may be done. This kind of biopsy uses a computer and a 3-dimensional (3-D) scanning device to find the tumor and guide the needle used to remove the tissue. A small incision is made in the scalp and a small hole is drilled through the skull. A biopsy needle is inserted through the hole to remove cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. - Open biopsy : When imaging tests show that there may be a tumor that can be removed by surgery, an open biopsy may be done. A part of the skull is removed in an operation called a craniotomy. A sample of brain tissue is removed and viewed under a microscope by a pathologist. If cancer cells are found, some or all of the tumor may be removed during the same surgery. Tests are done before surgery to find the areas around the tumor that are important for normal brain function. There are also ways to test brain function during surgery. The doctor will use the results of these tests to remove as much of the tumor as possible with the least damage to normal tissue in the brain. The pathologist checks the biopsy sample to find out the type and grade of brain tumor. The grade of the tumor is based on how the tumor cells look under a microscope and how quickly the tumor is likely to grow and spread. The following tests may be done on the tumor tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. Sometimes a biopsy or surgery cannot be done. For some tumors, a biopsy or surgery cannot be done safely because of where the tumor formed in the brain or spinal cord. These tumors are diagnosed and treated based on the results of imaging tests and other procedures. Sometimes the results of imaging tests and other procedures show that the tumor is very likely to be benign and a biopsy is not done.",CancerGov,Adult Central Nervous System Tumors +What is the outlook for Adult Central Nervous System Tumors ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for primary brain and spinal cord tumors depend on the following: - The type and grade of the tumor. - Where the tumor is in the brain or spinal cord. - Whether the tumor can be removed by surgery. - Whether cancer cells remain after surgery. - Whether there are certain changes in the chromosomes. - Whether the cancer has just been diagnosed or has recurred (come back). - The patient's general health. The prognosis and treatment options for metastatic brain and spinal cord tumors depend on the following: - Whether there are more than two tumors in the brain or spinal cord. - Where the tumor is in the brain or spinal cord. - How well the tumor responds to treatment. - Whether the primary tumor continues to grow or spread.,CancerGov,Adult Central Nervous System Tumors +What are the stages of Adult Central Nervous System Tumors ?,"Key Points + - There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment. + + + There is no standard staging system for adult brain and spinal cord tumors. + The extent or spread of cancer is usually described as stages. There is no standard staging system for brain and spinal cord tumors. Brain tumors that begin in the brain may spread to other parts of the brain and spinal cord, but they rarely spread to other parts of the body. Treatment of primary brain and spinal cord tumors is based on the following: - The type of cell in which the tumor began. - Where the tumor formed in the brain or spinal cord. - The amount of cancer left after surgery. - The grade of the tumor. Treatment of tumors that have spread to the brain from other parts of the body is based on the number of tumors in the brain. + + + Imaging tests may be repeated after surgery to help plan more treatment. + Some of the tests and procedures used to diagnose a brain or spinal cord tumor may be repeated after treatment to find out how much tumor is left.",CancerGov,Adult Central Nervous System Tumors +what research (or clinical trials) is being done for Adult Central Nervous System Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section refers to new treatments being studied in clinical trials, but it may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged pieces of matter) to make radiation. This type of radiation kills tumor cells with little damage to nearby tissues. It is used to treat cancers of the head, neck, and spine and organs such as the brain, eye, lung, and prostate. Proton beam radiation is different from x-ray radiation. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Biologic therapy is being studied for the treatment of some types of brain tumors. Treatments may include the following: - Dendritic cell vaccine therapy. - Gene therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Central Nervous System Tumors +What are the treatments for Adult Central Nervous System Tumors ?,"Key Points + - There are different types of treatment for patients with adult brain and spinal cord tumors. - Five types of standard treatment are used: - Active surveillance - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Supportive care is given to lessen the problems caused by the disease or its treatment. - New types of treatment are being tested in clinical trials. - Proton beam radiation therapy - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult brain and spinal cord tumors. + Different types of treatment are available for patients with adult brain and spinal cord tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Active surveillance Active surveillance is closely watching a patients condition but not giving any treatment unless there are changes in test results that show the condition is getting worse. Active surveillance may be used to avoid or delay the need for treatments such as radiation therapy or surgery, which can cause side effects or other problems. During active surveillance, certain exams and tests are done on a regular schedule. Active surveillance may be used for very slow-growing tumors that do not cause symptoms. Surgery Surgery may be used to diagnose and treat adult brain and spinal cord tumors. Removing tumor tissue helps decrease pressure of the tumor on nearby parts of the brain. See the General Information section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) external radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Stereotactic radiosurgery: Stereotactic radiosurgery is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and grade of tumor and where it is in the brain or spinal cord. External radiation therapy is used to treat adult central nervous system tumors. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. To treat brain tumors, a wafer that dissolves may be used to deliver an anticancer drug directly to the brain tumor site after the tumor has been removed by surgery. The way the chemotherapy is given depends on the type and grade of tumor and where it is in the brain. Anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells there. This is called intrathecal chemotherapy. See Drugs Approved for Brain Tumors for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is a monoclonal antibody that binds to a protein called vascular endothelial growth factor (VEGF) and may prevent the growth of new blood vessels that tumors need to grow. Bevacizumab is used in the treatment of recurrent glioblastoma. Other types of targeted therapies are being studied for adult brain tumors, including tyrosine kinase inhibitors and new VEGF inhibitors. See Drugs Approved for Brain Tumors for more information. + + + Supportive care is given to lessen the problems caused by the disease or its treatment. + This therapy controls problems or side effects caused by the disease or its treatment and improves quality of life. For brain tumors, supportive care includes drugs to control seizures and fluid buildup or swelling in the brain. + + + New types of treatment are being tested in clinical trials. + This summary section refers to new treatments being studied in clinical trials, but it may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Proton beam radiation therapy Proton beam radiation therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged pieces of matter) to make radiation. This type of radiation kills tumor cells with little damage to nearby tissues. It is used to treat cancers of the head, neck, and spine and organs such as the brain, eye, lung, and prostate. Proton beam radiation is different from x-ray radiation. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Biologic therapy is being studied for the treatment of some types of brain tumors. Treatments may include the following: - Dendritic cell vaccine therapy. - Gene therapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. The following tests and procedures may be used to check whether a brain tumor has come back after treatment: - SPECT scan (single photon emission computed tomography scan): A procedure that uses a special camera linked to a computer to make a 3-dimensional (3-D) picture of the brain. A very small amount of a radioactive substance is injected into a vein or inhaled through the nose. As the substance travels through the blood, the camera rotates around the head and takes pictures of the brain. Blood flow and metabolism are higher than normal in areas where cancer cells are growing. These areas will show up brighter in the picture. This procedure may be done just before or after a CT scan. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the brain. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + Treatment Options by Type of Primary Adult Brain Tumor + + + Astrocytic Tumors + Brain Stem Gliomas Treatment of brain stem gliomas may include the following: - Radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult brain stem glioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Pineal Astrocytic Tumors Treatment of pineal astrocytic tumors may include the following: - Surgery and radiation therapy. For high-grade tumors, chemotherapy may also be given. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult pineal gland astrocytoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Pilocytic Astrocytomas Treatment of pilocytic astrocytomas may include the following: - Surgery to remove the tumor. Radiation therapy may also be given if tumor remains after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult pilocytic astrocytoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Diffuse Astrocytomas Treatment of diffuse astrocytomas may include the following: - Surgery with or without radiation therapy. - Surgery followed by radiation therapy and chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult diffuse astrocytoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Anaplastic Astrocytomas Treatment of anaplastic astrocytomas may include the following: - Surgery and radiation therapy. Chemotherapy may also be given. - Surgery and chemotherapy. - A clinical trial of chemotherapy placed into the brain during surgery. - A clinical trial of a new treatment added to standard treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult anaplastic astrocytoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Glioblastomas Treatment of glioblastomas may include the following: - Surgery followed by radiation therapy and chemotherapy given at the same time, followed by chemotherapy alone. - Surgery followed by radiation therapy. - Chemotherapy placed into the brain during surgery. - Radiation therapy and chemotherapy given at the same time. - A clinical trial of a new treatment added to standard treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult glioblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Oligodendroglial Tumors + Treatment of oligodendrogliomas may include the following: - Surgery with or without radiation therapy. Chemotherapy may be given after radiation therapy. Treatment of anaplastic oligodendroglioma may include the following: - Surgery followed by radiation therapy with or without chemotherapy. - A clinical trial of a new treatment added to standard treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult oligodendroglial tumors. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Mixed Gliomas + Treatment of mixed gliomas may include the following: - Surgery and radiation therapy. Sometimes chemotherapy is also given. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult mixed glioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Ependymal Tumors + Treatment of grade I and grade II ependymomas may include the following: - Surgery to remove the tumor. Radiation therapy may also be given if tumor remains after surgery. Treatment of grade III anaplastic ependymoma may include the following: - Surgery and radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult ependymal tumors. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Medulloblastomas + Treatment of medulloblastomas may include the following: - Surgery and radiation therapy to the brain and spine. - A clinical trial of chemotherapy added to surgery and radiation therapy to the brain and spine Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult medulloblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Pineal Parenchymal Tumors + Treatment of pineal parenchymal tumors may include the following: - For pineocytomas, surgery and radiation therapy. - For pineoblastomas, surgery, radiation therapy, and chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult pineal parenchymal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Meningeal Tumors + Treatment of grade I meningiomas may include the following: - Active surveillance for tumors with no signs or symptoms. - Surgery to remove the tumor. Radiation therapy may also be given if tumor remains after surgery. - Stereotactic radiosurgery for tumors smaller than 3 centimeters. - Radiation therapy for tumors that cannot be removed by surgery. Treatment of grade II and III meningiomas and hemangiopericytoma s may include the following: - Surgery and radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult meningeal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Germ Cell Tumors + There is no standard treatment for germ cell tumors (germinoma, embryonal carcinoma, choriocarcinoma, and teratoma). Treatment depends on what the tumor cells look like under a microscope, the tumor markers, where the tumor is in the brain, and whether it can be removed by surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult central nervous system germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Craniopharyngiomas + Treatment of craniopharyngiomas may include the following: - Surgery to completely remove the tumor. - Surgery to remove as much of the tumor as possible, followed by radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Adult Central Nervous System Tumors +What is (are) Essential Thrombocythemia ?,"Key Points + - Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. - Patients with essential thrombocythemia may have no signs or symptoms. - Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. + + + Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow. + Essential thrombocythemia causes an abnormal increase in the number of platelets made in the blood and bone marrow.",CancerGov,Essential Thrombocythemia +What are the symptoms of Essential Thrombocythemia ?,"Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the following: - Headache. - Burning or tingling in the hands or feet. - Redness and warmth of the hands or feet. - Vision or hearing problems. Platelets are sticky. When there are too many platelets, they may clump together and make it hard for the blood to flow. Clots may form in blood vessels and there may also be increased bleeding. These can cause serious health problems such as stroke or heart attack.",CancerGov,Essential Thrombocythemia +What is the outlook for Essential Thrombocythemia ?,Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia. Prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the patient has signs or symptoms or other problems related to essential thrombocythemia.,CancerGov,Essential Thrombocythemia +What are the treatments for Essential Thrombocythemia ?,"Treatment of essential thrombocythemia in patients younger than 60 years who have no signs or symptoms and an acceptable platelet count is usually watchful waiting. Treatment of other patients may include the following: - Chemotherapy. - Anagrelide therapy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Platelet apheresis. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with essential thrombocythemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Essential Thrombocythemia +Who is at risk for Childhood Rhabdomyosarcoma? ?,"Certain genetic conditions increase the risk of childhood rhabdomyosarcoma. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for rhabdomyosarcoma include having the following inherited diseases: - Li-Fraumeni syndrome. - Pleuropulmonary blastoma. - Neurofibromatosis type 1 (NF1). - Costello syndrome. - Beckwith-Wiedemann syndrome. - Noonan syndrome. Children who had a high birth weight or were larger than expected at birth may have an increased risk of embryonal rhabdomyosarcoma. In most cases, the cause of rhabdomyosarcoma is not known.",CancerGov,Childhood Rhabdomyosarcoma +What are the symptoms of Childhood Rhabdomyosarcoma ?,"A sign of childhood rhabdomyosarcoma is a lump or swelling that keeps getting bigger. Signs and symptoms may be caused by childhood rhabdomyosarcoma or by other conditions. The signs and symptoms that occur depend on where the cancer forms. Check with your child's doctor if your child has any of the following: - A lump or swelling that keeps getting bigger or does not go away. It may be painful. - Bulging of the eye. - Headache. - Trouble urinating or having bowel movements. - Blood in the urine. - Bleeding in the nose, throat, vagina, or rectum.",CancerGov,Childhood Rhabdomyosarcoma +How to diagnose Childhood Rhabdomyosarcoma ?,"Diagnostic tests and a biopsy are used to detect (find) and diagnose childhood rhabdomyosarcoma. The diagnostic tests that are done depend in part on where the cancer forms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - X-ray : An x-ray of the organs and bones inside the body, such as the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, pelvis, or lymph nodes, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas of the body, such as the skull, brain, and lymph nodes. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone. Samples are removed from both hipbones. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of cancer cells. This procedure is also called an LP or spinal tap. If these tests show there may be a rhabdomyosarcoma, a biopsy is done. A biopsy is the removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Because treatment depends on the type of rhabdomyosarcoma, biopsy samples should be checked by a pathologist who has experience in diagnosing rhabdomyosarcoma. One of the following types of biopsies may be used: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Core needle biopsy : The removal of tissue using a wide needle. This procedure may be guided using ultrasound, CT scan, or MRI. - Open biopsy : The removal of tissue through an incision (cut) made in the skin. - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. The following tests may be done on the sample of tissue that is removed: - Light microscopy: A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to find certain gene changes. - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes.",CancerGov,Childhood Rhabdomyosarcoma +What is the outlook for Childhood Rhabdomyosarcoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's age. - Where in the body the tumor started. - The size of the tumor at the time of diagnosis. - Whether the tumor has been completely removed by surgery. - The type of rhabdomyosarcoma (embryonal, alveolar, or anaplastic). - Whether there are certain changes in the genes. - Whether the tumor had spread to other parts of the body at the time of diagnosis. - Whether the tumor was in the lymph nodes at the time of diagnosis. - Whether the tumor responds to chemotherapy and/or radiation therapy. For patients with recurrent cancer, prognosis and treatment also depend on the following: - Where in the body the tumor recurred (came back). - How much time passed between the end of cancer treatment and when the cancer recurred. - Whether the tumor was treated with radiation therapy.",CancerGov,Childhood Rhabdomyosarcoma +What are the stages of Childhood Rhabdomyosarcoma ?,"Key Points + - After childhood rhabdomyosarcoma has been diagnosed, treatment is based in part on the stage of the cancer and sometimes it is based on whether all the cancer was removed by surgery. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Staging of childhood rhabdomyosarcoma is done in three parts. - The staging system is based on the size of the tumor, where it is in the body, and whether it has spread to other parts of the body: - Stage 1 - Stage 2 - Stage 3 - Stage 4 - The grouping system is based on whether the cancer has spread and whether all the cancer was removed by surgery: - Group I - Group II - Group III - Group IV - The risk group is based on the staging system and the grouping system. - Low-risk childhood rhabdomyosarcoma - Intermediate-risk childhood rhabdomyosarcoma - High-risk childhood rhabdomyosarcoma + + + After childhood rhabdomyosarcoma has been diagnosed, treatment is based in part on the stage of the cancer and sometimes it is based on whether all the cancer was removed by surgery. + The process used to find out if cancer has spread within the tissue or to other parts of the body is called staging. It is important to know the stage in order to plan treatment. The doctor will use results of the diagnostic tests to help find out the stage of the disease. Treatment for childhood rhabdomyosarcoma is based in part on the stage and sometimes on the amount of cancer that remains after surgery to remove the tumor. The pathologist will use a microscope to check the tissues removed during surgery, including tissue samples from the edges of the areas where the cancer was removed and the lymph nodes. This is done to see if all the cancer cells were taken out during the surgery. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if rhabdomyosarcoma spreads to the lung, the cancer cells in the lung are actually rhabdomyosarcoma cells. The disease is metastatic rhabdomyosarcoma, not lung cancer. + + + Staging of childhood rhabdomyosarcoma is done in three parts. + Childhood rhabdomyosarcoma is staged by using three different ways to describe the cancer: - A staging system. - A grouping system. - A risk group. + + + The staging system is based on the size of the tumor, where it is in the body, and whether it has spread to other parts of the body: + Stage 1 In stage 1, the tumor is any size, may have spread to lymph nodes, and is found in only one of the following ""favorable"" sites: - Eye or area around the eye. - Head and neck (but not in the tissue next to the brain and spinal cord). - Gallbladder and bile ducts. - Ureters or urethra. - Testes, ovary, vagina, or uterus. Rhabdomyosarcoma that forms in a ""favorable"" site has a better prognosis. If the site where cancer occurs is not one of the favorable sites listed above, it is said to be an ""unfavorable"" site. Stage 2 In stage 2, cancer is found in an ""unfavorable"" site (any one area not described as ""favorable"" in stage 1). The tumor is no larger than 5 centimeters and has not spread to lymph nodes. Stage 3 In stage 3, cancer is found in an ""unfavorable"" site (any one area not described as ""favorable"" in stage 1) and one of the following is true: - The tumor is no larger than 5 centimeters and cancer has spread to nearby lymph nodes. - The tumor is larger than 5 centimeters and cancer may have spread to nearby lymph nodes. Stage 4 In stage 4, the tumor may be any size and cancer may have spread to nearby lymph nodes. Cancer has spread to distant parts of the body, such as the lung, bone marrow, or bone. + + + The grouping system is based on whether the cancer has spread and whether all the cancer was removed by surgery: + Group I Cancer was found only in the place where it started and it was completely removed by surgery. Tissue was taken from the edges of where the tumor was removed. The tissue was checked under a microscope by a pathologist and no cancer cells were found. Group II Group II is divided into groups IIA, IIB, and IIC. - IIA: Cancer was removed by surgery but cancer cells were seen when the tissue, taken from the edges of where the tumor was removed, was viewed under a microscope by a pathologist. - IIB: Cancer had spread to nearby lymph nodes and the cancer and lymph nodes were removed by surgery. - IIC: Cancer had spread to nearby lymph nodes, the cancer and lymph nodes were removed by surgery, and at least one of the following is true: - Tissue taken from the edges of where the tumor was removed was checked under a microscope by a pathologist and cancer cells were seen. - The furthest lymph node from the tumor that was removed was checked under a microscope by a pathologist and cancer cells were seen. Group III Cancer was partly removed by biopsy or surgery but there is tumor remaining that can be seen with the eye. Group IV Cancer had spread to distant parts of the body when the cancer was diagnosed. - Cancer cells are found by an imaging test; or - There are cancer cells in the fluid around the brain, spinal cord, or lungs, or in fluid in the abdomen; or tumors are found in those areas. + + + The risk group is based on the staging system and the grouping system. + The risk group describes the chance that rhabdomyosarcoma will recur (come back). Every child treated for rhabdomyosarcoma should receive chemotherapy to decrease the chance cancer will recur. The type of anticancer drug, dose, and the number of treatments given depends on whether the child has low-risk, intermediate-risk, or high-risk rhabdomyosarcoma. The following risk groups are used: Low-risk childhood rhabdomyosarcoma Low-risk childhood rhabdomyosarcoma is one of the following: - An embryonal tumor of any size that is found in a ""favorable"" site. There may be tumor remaining after surgery that can be seen with or without a microscope. The cancer may have spread to nearby lymph nodes. The following areas are ""favorable"" sites: - Eye or area around the eye. - Head or neck (but not in the tissue near the ear, nose, sinuses, or base of the skull). - Gallbladder and bile ducts. - Ureter or urethra. - Testes, ovary, vagina, or uterus. - An embryonal tumor of any size that is not found in a ""favorable"" site. There may be tumor remaining after surgery that can be seen only with a microscope. The cancer may have spread to nearby lymph nodes. Intermediate-risk childhood rhabdomyosarcoma Intermediate-risk childhood rhabdomyosarcoma is one of the following: - An embryonal tumor of any size that is not found in one of the ""favorable"" sites listed above. There is tumor remaining after surgery, that can be seen with or without a microscope. The cancer may have spread to nearby lymph nodes. - An alveolar tumor of any size in a ""favorable"" or ""unfavorable"" site. There may be tumor remaining after surgery that can be seen with or without a microscope. The cancer may have spread to nearby lymph nodes. High-risk childhood rhabdomyosarcoma High-risk childhood rhabdomyosarcoma may be the embryonal type or the alveolar type. It may have spread to nearby lymph nodes and has spread to one or more of the following: - Other parts of the body that are not near where the tumor first formed. - Fluid around the brain or spinal cord. - Fluid in the lung or abdomen.",CancerGov,Childhood Rhabdomyosarcoma +what research (or clinical trials) is being done for Childhood Rhabdomyosarcoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biologic therapy or biotherapy. There are different types of immunotherapy: - Immune checkpoint inhibitor therapy uses the body's immune system to kill cancer cells. Two types of immune checkpoint inhibitors are being studied in the treatment of childhood rhabdomyosarcoma that has come back after treatment: - CTLA-4 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When CTLA-4 attaches to another protein called B7 on a cancer cell, it stops the T cell from killing the cancer cell. CTLA-4 inhibitors attach to CTLA-4 and allow the T cells to kill cancer cells. Ipilimumab is a type of CTLA-4 inhibitor. - PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Nivolumab and pembrolizumab are PD-1 inhibitors. - Vaccine therapy is a type of immunotherapy being studied to treat metastatic rhabdomyosarcoma. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. There are different types of targeted therapy: - mTOR inhibitors stop the protein that helps cells divide and survive. Sirolimus is a type of mTOR inhibitor therapy being studied in the treatment of recurrent rhabdomyosarcoma. - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. MK-1775 is a tyrosine kinase inhibitor being studied in the treatment of recurrent rhabdomyosarcoma. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied in the treatment of recurrent rhabdomyosarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Rhabdomyosarcoma +What are the treatments for Childhood Rhabdomyosarcoma ?,"Key Points + - There are different types of treatment for patients with childhood rhabdomyosarcoma. - Children with rhabdomyosarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for childhood rhabdomyosarcoma may cause side effects. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Immunotherapy - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with childhood rhabdomyosarcoma. + Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with rhabdomyosarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Because rhabdomyosarcoma can form in many different parts of the body, many different kinds of treatments are used. Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with rhabdomyosarcoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric surgeon. - Radiation oncologist. - Pediatric hematologist. - Pediatric radiologist. - Pediatric nurse specialist. - Geneticist or cancer genetics risk counselor. - Social worker. - Rehabilitation specialist. + + + Treatment for childhood rhabdomyosarcoma may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment for rhabdomyosarcoma may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) + + + Three types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is used to treat childhood rhabdomyosarcoma. A type of surgery called wide local excision is often done. A wide local excision is the removal of tumor and some of the tissue around it, including the lymph nodes. A second surgery may be needed to remove all the cancer. Whether surgery is done and the type of surgery done depends on the following: - Where in the body the tumor started. - The effect the surgery will have on the way the child will look. - The effect the surgery will have on the child's important body functions. - How the tumor responded to chemotherapy or radiation therapy that may have been given first. In most children with rhabdomyosarcoma, it is not possible to remove all of the tumor by surgery. Rhabdomyosarcoma can form in many different places in the body and the surgery will be different for each site. Surgery to treat rhabdomyosarcoma of the eye or genital areas is usually a biopsy. Chemotherapy, and sometimes radiation therapy, may be given before surgery to shrink large tumors. Even if the doctor removes all the cancer that can be seen at the time of the surgery, patients will be given chemotherapy after surgery to kill any cancer cells that are left. Radiation therapy may also be given. Treatment given after the surgery to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or stop them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of external radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Volumetrical modulated arc therapy (VMAT): VMAT is type of 3-D radiation therapy that uses a computer to make pictures of the size and shape of the tumor. The radiation machine moves in a circle around the patient once during treatment and sends thin beams of radiation of different intensities (strengths) at the tumor. Treatment with VMAT is delivered faster than treatment with IMRT. - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Proton beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. This type of treatment causes less damage to nearby healthy tissue. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. It is used to treat cancer in areas such as the vagina, vulva, uterus, bladder, prostate, head, or neck. Internal radiation therapy is also called brachytherapy, internal radiation, implant radiation, or interstitial radiation therapy. The type and amount of radiation therapy and when it is given depends on the age of the child, the type of rhabdomyosarcoma, where in the body the tumor started, how much tumor remained after surgery, and whether there is tumor in the nearby lymph nodes. External radiation therapy is usually used to treat childhood rhabdomyosarcoma but in certain cases internal radiation therapy is used. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemotherapy may also be given to shrink the tumor before surgery in order to save as much healthy tissue as possible. This is called neoadjuvant chemotherapy. Every child treated for rhabdomyosarcoma should receive systemic chemotherapy to decrease the chance the cancer will recur. The type of anticancer drug, dose, and the number of treatments given depends on whether the child has low-risk, intermediate-risk, or high-risk rhabdomyosarcoma. See Drugs Approved for Rhabdomyosarcoma for more information. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Rhabdomyosarcoma + + + Previously Untreated Childhood Rhabdomyosarcoma + The treatment of childhood rhabdomyosarcoma often includes surgery, radiation therapy, and chemotherapy. The order that these treatments are given depends on where in the body the tumor started, the size of the tumor, the type of tumor, and whether the tumor has spread to lymph nodes or other parts of the body. See the Treatment Option Overview section of this summary for more information about surgery, radiation therapy, and chemotherapy used to treat children with rhabdomyosarcoma. Rhabdomyosarcoma of the brain and head and neck - For tumors of the brain: Treatment may include surgery to remove the tumor, radiation therapy, and chemotherapy. - For tumors of the head and neck that are in or near the eye: Treatment may include chemotherapy and radiation therapy. If the tumor remains or comes back after treatment with chemotherapy and radiation therapy, surgery to remove the eye and some tissues around the eye may be needed. - For tumors of the head and neck that are near the ear, nose, sinuses, or base of the skull but not in or near the eye: Treatment may include radiation therapy and chemotherapy. - For tumors of the head and neck that are not in or near the eye and not near the ear, nose, sinuses, or base of the skull: Treatment may include chemotherapy, radiation therapy, and surgery to remove the tumor. - For tumors of the head and neck that cannot be removed by surgery: Treatment may include chemotherapy and radiation therapy including stereotactic body radiation therapy. - For tumors of the larynx (voice box): Treatment may include chemotherapy and radiation therapy. Surgery to remove the larynx is usually not done, so that the voice is not harmed. Rhabdomyosarcoma of the arms or legs - Chemotherapy followed by surgery to remove the tumor. If the tumor was not completely removed, a second surgery to remove the tumor may be done. Radiation therapy may also be given. - For tumors of the hand or foot, radiation therapy and chemotherapy may be given. The tumor may not be removed because it would affect the function of the hand or foot. - Lymph node dissection (one or more lymph nodes are removed and a sample of tissue is checked under a microscope for signs of cancer). - For tumors in the arms, lymph nodes near the tumor and in the armpit area are removed. - For tumors in the legs, lymph nodes near the tumor and in the groin area are removed. Rhabdomyosarcoma of the chest, abdomen, or pelvis - For tumors in the chest or abdomen (including the chest wall or abdominal wall): Surgery (wide local excision) may be done. If the tumor is large, chemotherapy and radiation therapy are given to shrink the tumor before surgery. - For tumors of the pelvis: Surgery (wide local excision) may be done. If the tumor is large, chemotherapy is given to shrink the tumor before surgery. Radiation therapy may be given after surgery. - For tumors of the diaphragm: A biopsy of the tumor is followed by chemotherapy and radiation therapy to shrink the tumor. Surgery may be done later to remove any remaining cancer cells. - For tumors of the gallbladder or bile ducts: A biopsy of the tumor is followed by chemotherapy and radiation therapy. - For tumors of the muscles or tissues around the anus or between the vulva and the anus or the scrotum and the anus: Surgery is done to remove as much of the tumor as possible and some nearby lymph nodes, followed by chemotherapy and radiation therapy. Rhabdomyosarcoma of the kidney - For tumors of the kidney: Surgery to remove as much of the tumor as possible. Chemotherapy and radiation therapy may also be given. Rhabdomyosarcoma of the bladder and prostate - For tumors that are only at the top of the bladder: Surgery (wide local excision) is done. - For tumors of the prostate or bladder (other than the top of the bladder): - Chemotherapy and radiation therapy are given first to shrink the tumor. If cancer cells remain after chemotherapy and radiation therapy, the tumor is removed by surgery. Surgery may include removal of the prostate, part of the bladder, or pelvic exenteration without removal of the rectum. (This may include removal of the lower colon and bladder. In girls, the cervix, vagina, ovaries, and nearby lymph nodes may be removed). - Chemotherapy is given first to shrink the tumor. Surgery to remove the tumor, but not the bladder or prostate, is done. Internal or external radiation therapy may be given after surgery. Rhabdomyosarcoma of the area near the testicles - Surgery to remove the testicle and spermatic cord. The lymph nodes in the back of the abdomen may be checked for cancer, especially if the lymph nodes are large or the child is 10 years or older. - Radiation therapy may be given if the tumor cannot be completely removed by surgery. Rhabdomyosarcoma of the vulva, vagina, uterus, cervix, or ovary - For tumors of the vulva and vagina: Treatment may include chemotherapy followed by surgery to remove the tumor. Internal or external radiation therapy may be given after surgery. - For tumors of the uterus: Treatment may include chemotherapy with or without radiation therapy. Sometimes surgery may be needed to remove any remaining cancer cells. - For tumors of the cervix: Treatment may include chemotherapy followed by surgery to remove any remaining tumor. - For tumors of the ovary: Treatment may include chemotherapy followed by surgery to remove any remaining tumor. Metastatic rhabdomyosarcoma Treatment, such as chemotherapy, radiation therapy, or surgery to remove the tumor, is given to the site where the tumor first formed. If the cancer has spread to the brain, spinal cord, or lungs, radiation therapy may also be given to the sites where the cancer has spread. The following treatment is being studied for metastatic rhabdomyosarcoma: - A clinical trial of immunotherapy (vaccine therapy). Check the list of NCI-supported cancer clinical trials that are now accepting patients with previously untreated childhood rhabdomyosarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Rhabdomyosarcoma + Treatment options for recurrent childhood rhabdomyosarcoma are based on many factors, including where in the body the cancer has come back, what type of treatment the child had before, and the needs of the child. Treatment of recurrent rhabdomyosarcoma may include one or more of the following: - Surgery. - Radiation therapy. - Chemotherapy. - A clinical trial of high-dose chemotherapy followed by stem cell transplant using the patient's own stem cells. - A clinical trial of targeted therapy or immunotherapy (sirolimus, lorvotuzumab, ipilimumab, nivolumab, or pembrolizumab). - A clinical trial of targeted therapy with a tyrosine kinase inhibitor (MK-1775) and chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood rhabdomyosarcoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biologic therapy or biotherapy. There are different types of immunotherapy: - Immune checkpoint inhibitor therapy uses the body's immune system to kill cancer cells. Two types of immune checkpoint inhibitors are being studied in the treatment of childhood rhabdomyosarcoma that has come back after treatment: - CTLA-4 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When CTLA-4 attaches to another protein called B7 on a cancer cell, it stops the T cell from killing the cancer cell. CTLA-4 inhibitors attach to CTLA-4 and allow the T cells to kill cancer cells. Ipilimumab is a type of CTLA-4 inhibitor. - PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Nivolumab and pembrolizumab are PD-1 inhibitors. - Vaccine therapy is a type of immunotherapy being studied to treat metastatic rhabdomyosarcoma. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. There are different types of targeted therapy: - mTOR inhibitors stop the protein that helps cells divide and survive. Sirolimus is a type of mTOR inhibitor therapy being studied in the treatment of recurrent rhabdomyosarcoma. - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. MK-1775 is a tyrosine kinase inhibitor being studied in the treatment of recurrent rhabdomyosarcoma. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied in the treatment of recurrent rhabdomyosarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Rhabdomyosarcoma +What is (are) Pituitary Tumors ?,"Key Points + - A pituitary tumor is a growth of abnormal cells in the tissues of the pituitary gland. - The pituitary gland hormones control many other glands in the body. - Having certain genetic conditions increases the risk of developing a pituitary tumor. - Signs of a pituitary tumor include problems with vision and certain physical changes. - Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose a pituitary tumor. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + A pituitary tumor is a growth of abnormal cells in the tissues of the pituitary gland. + Pituitary tumors form in the pituitary gland, a pea-sized organ in the center of the brain, just above the back of the nose. The pituitary gland is sometimes called the ""master endocrine gland"" because it makes hormones that affect the way many parts of the body work. It also controls hormones made by many other glands in the body. Pituitary tumors are divided into three groups: - Benign pituitary adenomas: Tumors that are not cancer. These tumors grow very slowly and do not spread from the pituitary gland to other parts of the body. - Invasive pituitary adenomas: Benign tumors that may spread to bones of the skull or the sinus cavity below the pituitary gland. - Pituitary carcinomas: Tumors that are malignant (cancer). These pituitary tumors spread into other areas of the central nervous system (brain and spinal cord) or outside of the central nervous system. Very few pituitary tumors are malignant. Pituitary tumors may be either non-functioning or functioning. - Non-functioning pituitary tumors do not make extra amounts of hormones. - Functioning pituitary tumors make more than the normal amount of one or more hormones. Most pituitary tumors are functioning tumors. The extra hormones made by pituitary tumors may cause certain signs or symptoms of disease. + + + The pituitary gland hormones control many other glands in the body. + Hormones made by the pituitary gland include: - Prolactin: A hormone that causes a womans breasts to make milk during and after pregnancy. - Adrenocorticotropic hormone (ACTH): A hormone that causes the adrenal glands to make a hormone called cortisol. Cortisol helps control the use of sugar, protein, and fats in the body and helps the body deal with stress. - Growth hormone: A hormone that helps control body growth and the use of sugar and fat in the body. Growth hormone is also called somatotropin. - Thyroid-stimulating hormone: A hormone that causes the thyroid gland to make other hormones that control growth, body temperature, and heart rate. Thyroid-stimulating hormone is also called thyrotropin. - Luteinizing hormone (LH) and follicle-stimulating hormone (FSH): Hormones that control the menstrual cycle in women and the making of sperm in men.",CancerGov,Pituitary Tumors +Who is at risk for Pituitary Tumors? ?,Having certain genetic conditions increases the risk of developing a pituitary tumor.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for pituitary tumors include having the following hereditary diseases: - Multiple endocrine neoplasia type 1 (MEN1) syndrome. - Carney complex. - Isolated familial acromegaly.,CancerGov,Pituitary Tumors +What are the symptoms of Pituitary Tumors ?,"Signs of a pituitary tumor include problems with vision and certain physical changes. Signs and symptoms can be caused by the growth of the tumor and/or by hormones the tumor makes or by other conditions. Some tumors may not cause signs or symptoms. Check with your doctor if you have any of these problems. Signs and symptoms of a non-functioning pituitary tumor Sometimes, a pituitary tumor may press on or damage parts of the pituitary gland, causing it to stop making one or more hormones. Too little of a certain hormone will affect the work of the gland or organ that the hormone controls. The following signs and symptoms may occur: - Headache. - Some loss of vision. - Loss of body hair. - In women, less frequent or no menstrual periods or no milk from the breasts. - In men, loss of facial hair, growth of breast tissue, and impotence. - In women and men, lower sex drive. - In children, slowed growth and sexual development. Most of the tumors that make LH and FSH do not make enough extra hormone to cause signs and symptoms. These tumors are considered to be non-functioning tumors. Signs and symptoms of a functioning pituitary tumor When a functioning pituitary tumor makes extra hormones, the signs and symptoms will depend on the type of hormone being made. Too much prolactin may cause: - Headache. - Some loss of vision. - Less frequent or no menstrual periods or menstrual periods with a very light flow. - Trouble becoming pregnant or an inability to become pregnant. - Impotence in men. - Lower sex drive. - Flow of breast milk in a woman who is not pregnant or breast-feeding. Too much ACTH may cause: - Headache. - Some loss of vision. - Weight gain in the face, neck, and trunk of the body, and thin arms and legs. - A lump of fat on the back of the neck. - Thin skin that may have purple or pink stretch marks on the chest or abdomen. - Easy bruising. - Growth of fine hair on the face, upper back, or arms. - Bones that break easily. - Anxiety, irritability, and depression. Too much growth hormone may cause: - Headache. - Some loss of vision. - In adults, acromegaly (growth of the bones in the face, hands, and feet). In children, the whole body may grow much taller and larger than normal. - Tingling or numbness in the hands and fingers. - Snoring or pauses in breathing during sleep. - Joint pain. - Sweating more than usual. - Dysmorphophobia (extreme dislike of or concern about one or more parts of the body). Too much thyroid-stimulating hormone may cause: - Irregular heartbeat. - Shakiness. - Weight loss. - Trouble sleeping. - Frequent bowel movements. - Sweating. Other general signs and symptoms of pituitary tumors: - Nausea and vomiting. - Confusion. - Dizziness. - Seizures. - Runny or ""drippy"" nose (cerebrospinal fluid that surrounds the brain and spinal cord leaks into the nose).",CancerGov,Pituitary Tumors +How to diagnose Pituitary Tumors ?,"Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose a pituitary tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Eye exam: An exam to check vision and the general health of the eyes. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry study : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as glucose (sugar), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Blood tests: Tests to measure the levels of testosterone or estrogen in the blood. A higher or lower than normal amount of these hormones may be a sign of pituitary tumor. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of the hormone cortisol may be a sign of a pituitary tumor and Cushing syndrome. - High-dose dexamethasone suppression test: A test in which one or more high doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol or if the pituitary gland is telling the adrenal glands to make too much cortisol. - Low-dose dexamethasone suppression test: A test in which one or more small doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol. - Venous sampling for pituitary tumors: A procedure in which a sample of blood is taken from veins coming from the pituitary gland. The sample is checked to measure the amount of ACTH released into the blood by the gland. Venous sampling may be done if blood tests show there is a tumor making ACTH, but the pituitary gland looks normal in the imaging tests. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The following tests may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Immunocytochemistry : A test that uses antibodies to check for certain antigens in a sample of cells. The antibody is usually linked to a radioactive substance or a dye that causes the cells to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.",CancerGov,Pituitary Tumors +What is the outlook for Pituitary Tumors ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the type of tumor and whether the tumor has spread into other areas of the central nervous system (brain and spinal cord) or outside of the central nervous system to other parts of the body. Treatment options depend on the following: - The type and size of the tumor. - Whether the tumor is making hormones. - Whether the tumor is causing problems with vision or other signs or symptoms. - Whether the tumor has spread into the brain around the pituitary gland or to other parts of the body. - Whether the tumor has just been diagnosed or has recurred (come back).,CancerGov,Pituitary Tumors +What are the stages of Pituitary Tumors ?,"Key Points + - Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body. - Pituitary tumors are described in several ways. + + + Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body. + The extent or spread of cancer is usually described as stages. There is no standard staging system for pituitary tumors. Once a pituitary tumor is found, tests are done to find out if the tumor has spread into the brain or to other parts of the body. The following test may be used: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). + + + Pituitary tumors are described in several ways. + Pituitary tumors are described by their size and grade, whether or not they make extra hormones, and whether the tumor has spread to other parts of the body. The following sizes are used: - Microadenoma: The tumor is smaller than 1 centimeter. - Macroadenoma: The tumor is 1 centimeter or larger. Most pituitary adenomas are microadenomas. The grade of a pituitary tumor is based on how far it has grown into the surrounding area of the brain, including the sella (the bone at the base of the skull, where the pituitary gland sits).",CancerGov,Pituitary Tumors +What are the treatments for Pituitary Tumors ?,"Key Points + - There are different types of treatment for patients with pituitary tumors. - Four types of standard treatment are used: - Surgery - Radiation therapy - Drug therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with pituitary tumors. + Different types of treatments are available for patients with pituitary tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Many pituitary tumors can be removed by surgery using one of the following operations: - Transsphenoidal surgery: A type of surgery in which the instruments are inserted into part of the brain by going through an incision (cut) made under the upper lip or at the bottom of the nose between the nostrils and then through the sphenoid bone (a butterfly-shaped bone at the base of the skull) to reach the pituitary gland. The pituitary gland lies just above the sphenoid bone. - Endoscopic transsphenoidal surgery: A type of surgery in which an endoscope is inserted through an incision (cut) made at the back of the inside of the nose and then through the sphenoid bone to reach the pituitary gland. An endoscope is a thin, tube-like instrument with a light, a lens for viewing, and a tool for removing tumor tissue. - Craniotomy: Surgery to remove the tumor through an opening made in the skull. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Stereotactic radiosurgery: A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated. External radiation therapy is used to treat pituitary tumors. Drug therapy Drugs may be given to stop a functioning pituitary tumor from making too many hormones. Chemotherapy Chemotherapy may be used as palliative treatment for pituitary carcinomas, to relieve symptoms and improve the patient's quality of life. Chemotherapy uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of the cancer being treated. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Pituitary Tumors + + + Non-functioning Pituitary Tumors + Treatment may include the following: - Surgery (transsphenoidal surgery, if possible) to remove the tumor, followed by watchful waiting (closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change). Radiation therapy is given if the tumor comes back. - Radiation therapy alone. Treatment for luteinizing hormone -producing and follicle-stimulating hormone -producing tumors is usually transsphenoidal surgery to remove the tumor. + + + Prolactin-Producing Pituitary Tumors + Treatment may include the following: - Drug therapy to stop the tumor from making prolactin and to stop the tumor from growing. - Surgery to remove the tumor (transsphenoidal surgery or craniotomy) when the tumor does not respond to drug therapy or when the patient cannot take the drug. - Radiation therapy. - Surgery followed by radiation therapy. + + + ACTH-Producing Pituitary Tumors + Treatment may include the following: - Surgery (usually transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Radiation therapy alone. - Drug therapy to stop the tumor from making ACTH. - A clinical trial of stereotactic radiation surgery. + + + Growth HormoneProducing Pituitary Tumors + Treatment may include the following: - Surgery (usually transsphenoidal or endoscopic transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Drug therapy to stop the tumor from making growth hormone. + + + Thyroid-Stimulating HormoneProducing Tumors + Treatment may include the following: - Surgery (usually transsphenoidal surgery) to remove the tumor, with or without radiation therapy. - Drug therapy to stop the tumor from making hormones. + + + Pituitary Carcinomas + Treatment of pituitary carcinomas is palliative, to relieve symptoms and improve the quality of life. Treatment may include the following: - Surgery (transsphenoidal surgery or craniotomy) to remove the cancer, with or without radiation therapy. - Drug therapy to stop the tumor from making hormones. - Chemotherapy. + + + Recurrent Pituitary Tumors + Treatment may include the following: - Radiation therapy. - A clinical trial of stereotactic radiation surgery.",CancerGov,Pituitary Tumors +what research (or clinical trials) is being done for Pituitary Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Pituitary Tumors +What is (are) Chronic Myelomonocytic Leukemia ?,"Key Points + - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Older age and being male increase the risk of chronic myelomonocytic leukemia. - Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. + In chronic myelomonocytic leukemia (CMML), the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.",CancerGov,Chronic Myelomonocytic Leukemia +Who is at risk for Chronic Myelomonocytic Leukemia? ?,Older age and being male increase the risk of chronic myelomonocytic leukemia. Anything that increases your chance of getting a disease is called a risk factor. Possible risk factors for CMML include the following: - Older age. - Being male. - Being exposed to certain substances at work or in the environment. - Being exposed to radiation. - Past treatment with certain anticancer drugs.,CancerGov,Chronic Myelomonocytic Leukemia +What are the symptoms of Chronic Myelomonocytic Leukemia ?,"Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by CMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Infection. - Feeling very tired. - Weight loss for no known reason. - Easy bruising or bleeding. - Pain or a feeling of fullness below the ribs.",CancerGov,Chronic Myelomonocytic Leukemia +What is the outlook for Chronic Myelomonocytic Leukemia ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for CMML depend on the following: - The number of white blood cells or platelets in the blood or bone marrow. - Whether the patient is anemic. - The amount of blasts in the blood or bone marrow. - The amount of hemoglobin in red blood cells. - Whether there are certain changes in the chromosomes.,CancerGov,Chronic Myelomonocytic Leukemia +What are the treatments for Chronic Myelomonocytic Leukemia ?,"Treatment of chronic myelomonocytic leukemia (CMML) may include the following: - Chemotherapy with one or more agents. - Stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Myelomonocytic Leukemia +What is (are) Nasopharyngeal Cancer ?,"Key Points + - Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. - Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. - Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. + The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. The nostrils lead into the nasopharynx. An opening on each side of the nasopharynx leads into an ear. Nasopharyngeal cancer most commonly starts in the squamous cells that line the nasopharynx. Nasopharyngeal cancer is a type of head and neck cancer.",CancerGov,Nasopharyngeal Cancer +Who is at risk for Nasopharyngeal Cancer? ?,"Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for nasopharyngeal cancer include the following: - Having Chinese or Asian ancestry. - Being exposed to the Epstein-Barr virus: The Epstein-Barr virus has been associated with certain cancers, including nasopharyngeal cancer and some lymphomas. - Drinking large amounts of alcohol.",CancerGov,Nasopharyngeal Cancer +What are the symptoms of Nasopharyngeal Cancer ?,"Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. These and other signs and symptoms may be caused by nasopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A lump in the nose or neck. - A sore throat. - Trouble breathing or speaking. - Nosebleeds. - Trouble hearing. - Pain or ringing in the ear. - Headaches.",CancerGov,Nasopharyngeal Cancer +How to diagnose Nasopharyngeal Cancer ?,"Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Nasoscopy : A procedure to look inside the nose for abnormal areas. A nasoscope is inserted through the nose. A nasoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Upper endoscopy : A procedure to look at the inside of the nose, throat, esophagus, stomach, and duodenum (first part of the small intestine, near the stomach). An endoscope is inserted through the mouth and into the esophagus, stomach, and duodenum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples. The tissue samples are checked under a microscope for signs of cancer. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. PET scans may be used to find nasopharyngeal cancers that have spread to the bone. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the Epstein-Barr virus and DNA markers of the Epstein-Barr virus. These are found in the blood of patients who have been infected with EBV. - Hearing test: A procedure to check whether soft and loud sounds and low- and high-pitched sounds can be heard. Each ear is checked separately.",CancerGov,Nasopharyngeal Cancer +What is the outlook for Nasopharyngeal Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). - The type of nasopharyngeal cancer. - The size of the tumor. - The patients age and general health.",CancerGov,Nasopharyngeal Cancer +What are the stages of Nasopharyngeal Cancer ?,"Key Points + - After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for nasopharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. + The process used to find out whether cancer has spread within the nasopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose nasopharyngeal cancer are often also used to stage the disease. (See the General Information section.) + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if nasopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually nasopharyngeal cancer cells. The disease is metastatic nasopharyngeal cancer, not lung cancer. + + + The following stages are used for nasopharyngeal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the nasopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the cancer: - is found in the nasopharynx only; or - has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. Stage II In stage II nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer may have spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage III In stage III nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - has spread to nearby bones or sinuses. Cancer may have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage IV Stage IV nasopharyngeal cancer is divided into stages IVA, IVB, and IVC. - Stage IVA: Cancer has spread beyond the nasopharynx and may have spread to the cranial nerves, the hypopharynx (bottom part of the throat), areas in and around the side of the skull or jawbone, and/or the bone around the eye. Cancer may also have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. - Stage IVB: Cancer has spread to lymph nodes between the collarbone and the top of the shoulder and/or the affected lymph nodes are larger than 6 centimeters. - Stage IVC: Cancer has spread beyond nearby lymph nodes to other parts of the body.",CancerGov,Nasopharyngeal Cancer +What are the treatments for Nasopharyngeal Cancer ?,"Key Points + - There are different types of treatment for patients with nasopharyngeal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with nasopharyngeal cancer. + Different types of treatment are available for patients with nasopharyngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. Compared to standard radiation therapy, intensity-modulated radiation therapy may be less likely to cause dry mouth. - Stereotactic radiation therapy: A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims radiation directly at the tumor. The total dose of radiation is divided into several smaller doses given over several days. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat nasopharyngeal cancer. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. A blood test to check the thyroid hormone level in the blood is done before and after therapy to make sure the thyroid gland is working properly. It is also important that a dentist check the patients teeth, gums, and mouth, and fix any existing problems before radiation therapy begins. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy may be given after radiation therapy to kill any cancer cells that are left. Treatment given after radiation therapy, to lower the risk that the cancer will come back, is called adjuvant therapy. See Drugs Approved for Head and Neck Cancer for more information. (Nasopharyngeal cancer is a type of head and neck cancer.) Surgery Surgery is a procedure to find out whether cancer is present, to remove cancer from the body, or to repair a body part. Also called an operation. Surgery is sometimes used for nasopharyngeal cancer that does not respond to radiation therapy. If cancer has spread to the lymph nodes, the doctor may remove lymph nodes and other tissues in the neck. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Nasopharyngeal Cancer + Treatment of stage I nasopharyngeal cancer is usually radiation therapy to the tumor and lymph nodes in the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Nasopharyngeal Cancer + Treatment of stage II nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, followed by more chemotherapy. - Radiation therapy to the tumor and lymph nodes in the neck. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Nasopharyngeal Cancer + Treatment of stage III nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, which may be followed by more chemotherapy. - Radiation therapy. - Radiation therapy followed by surgery to remove cancer -containing lymph nodes in the neck that remain or come back after radiation therapy. - A clinical trial of chemotherapy given before, with, or after radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Nasopharyngeal Cancer + Treatment of stage IV nasopharyngeal cancer may include the following: - Chemotherapy given with radiation therapy, followed by more chemotherapy. - Radiation therapy. - Radiation therapy followed by surgery to remove cancer -containing lymph nodes in the neck that remain or come back after radiation therapy. - Chemotherapy for cancer that has metastasized (spread) to other parts of the body. - A clinical trial of chemotherapy given before, with, or after radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV nasopharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Nasopharyngeal Cancer +what research (or clinical trials) is being done for Nasopharyngeal Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Nasopharyngeal Cancer +What is (are) Gastrointestinal Stromal Tumors ?,"Key Points + - Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract. - Genetic factors can increase the risk of having a gastrointestinal stromal tumor. - Signs of gastrointestinal stromal tumors include blood in the stool or vomit. - Tests that examine the GI tract are used to detect (find) and diagnose gastrointestinal stromal tumors. - Very small GISTs are common. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract. + The gastrointestinal (GI) tract is part of the bodys digestive system. It helps to digest food and takes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from food so they can be used by the body. The GI tract is made up of the following organs: - Stomach. - Small intestine. - Large intestine (colon). Gastrointestinal stromal tumors (GISTs) may be malignant (cancer) or benign (not cancer). They are most common in the stomach and small intestine but may be found anywhere in or near the GI tract. Some scientists believe that GISTs begin in cells called interstitial cells of Cajal (ICC), in the wall of the GI tract. See the PDQ summary about Unusual Cancers of Childhood Treatment for information on the treatment of GIST in children. + + + Very small GISTs are common. + Sometimes GISTs are smaller than the eraser on top of a pencil. Tumors may be found during a procedure that is done for another reason, such as an x-ray or surgery. Some of these small tumors will not grow and cause signs or symptoms or spread to the abdomen or other parts of the body. Doctors do not agree on whether these small tumors should be removed or whether they should be watched to see if they begin to grow.",CancerGov,Gastrointestinal Stromal Tumors +Who is at risk for Gastrointestinal Stromal Tumors? ?,"Genetic factors can increase the risk of having a gastrointestinal stromal tumor. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The genes in cells carry the hereditary information received from a persons parents. The risk of GIST is increased in people who have inherited a mutation (change) in a certain gene. In rare cases, GISTs can be found in several members of the same family. GIST may be part of a genetic syndrome, but this is rare. A genetic syndrome is a set of symptoms or conditions that occur together and is usually caused by abnormal genes. The following genetic syndromes have been linked to GIST: - Neurofibromatosis type 1 (NF1). - Carney triad.",CancerGov,Gastrointestinal Stromal Tumors +What are the symptoms of Gastrointestinal Stromal Tumors ?,"Signs of gastrointestinal stromal tumors include blood in the stool or vomit. These and other signs and symptoms may be caused by a GIST or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool or vomit. - Pain in the abdomen, which may be severe. - Feeling very tired. - Trouble or pain when swallowing. - Feeling full after only a little food is eaten.",CancerGov,Gastrointestinal Stromal Tumors +What are the stages of Gastrointestinal Stromal Tumors ?,"Key Points + - After a gastrointestinal stromal tumor has been diagnosed, tests are done to find out if cancer cells have spread within the gastrointestinal tract or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The results of diagnostic and staging tests are used to plan treatment. + + + After a gastrointestinal stromal tumor has been diagnosed, tests are done to find out if cancer cells have spread within the gastrointestinal tract or to other parts of the body. + The process used to find out if cancer has spread within the gastrointestinal (GI) tract or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. The following tests and procedures may be used in the staging process: - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if a gastrointestinal stromal tumor (GIST) spreads to the liver, the tumor cells in the liver are actually GIST cells. The disease is metastatic GIST, not liver cancer. + + + The results of diagnostic and staging tests are used to plan treatment. + For many cancers it is important to know the stage of the cancer in order to plan treatment. However, the treatment of GIST is not based on the stage of the cancer. Treatment is based on whether the tumor can be removed by surgery and if the tumor has spread to other parts of the abdomen or to distant parts of the body. Treatment is based on whether the tumor is: - Resectable: These tumors can be removed by surgery . - Unresectable: These tumors cannot be completely removed by surgery. - Metastatic and recurrent: Metastatic tumors have spread to other parts of the body. Recurrent tumors have recurred (come back) after treatment. Recurrent GISTs may come back in the gastrointestinal tract or in other parts of the body. They are usually found in the abdomen, peritoneum, and/or liver. - Refractory: These tumors have not gotten better with treatment.",CancerGov,Gastrointestinal Stromal Tumors +what research (or clinical trials) is being done for Gastrointestinal Stromal Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Gastrointestinal Stromal Tumors +What are the treatments for Gastrointestinal Stromal Tumors ?,"Key Points + - There are different types of treatment for patients with gastrointestinal stromal tumors. - Four types of standard treatment are used: - Surgery - Targeted therapy - Watchful waiting - Supportive care - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with gastrointestinal stromal tumors. + Different types of treatments are available for patients with gastrointestinal stromal tumors (GISTs). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery If the GIST has not spread and is in a place where surgery can be safely done, the tumor and some of the tissue around it may be removed. Sometimes surgery is done using a laparoscope (a thin, lighted tube) to see inside the body. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope is inserted into one of the incisions. Instruments may be inserted through the same incision or through other incisions to remove organs or tissues. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Tyrosine kinase inhibitors (TKIs) are targeted therapy drugs that block signals needed for tumors to grow. TKIs may be used to treat GISTs that cannot be removed by surgery or to shrink GISTs so they become small enough to be removed by surgery. Imatinib mesylate and sunitinib are two TKIs used to treat GISTs. TKIs are sometimes given for as long as the tumor does not grow and serious side effects do not occur. See Drugs Approved for Gastrointestinal Stromal Tumors for more information. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Supportive care If a GIST gets worse during treatment or there are side effects, supportive care is usually given. The goal of supportive care is to prevent or treat the symptoms of a disease, side effects caused by treatment, and psychological, social, and spiritual problems related to a disease or its treatment. Supportive care helps improve the quality of life of patients who have a serious or life-threatening disease. Radiation therapy is sometimes given as supportive care to relieve pain in patients with large tumors that have spread. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Follow-up for GISTs that were removed by surgery may include CT scan of the liver and pelvis or watchful waiting. For GISTs that are treated with tyrosine kinase inhibitors, follow-up tests, such as CT, MRI, or PET scans, may be done to check how well the targeted therapy is working. + + + Treatment Options for Gastrointestinal Stromal Tumors + + + Resectable Gastrointestinal Stromal Tumors + Resectable gastrointestinal stromal tumors (GISTs) can be completely or almost completely removed by surgery. Treatment may include the following: - Surgery to remove tumors that are 2 centimeters or larger. Laparoscopic surgery may be done if the tumor is 5 cm or smaller. If there are cancer cells remaining at the edges of the area where the tumor was removed, watchful waiting or targeted therapy with imatinib mesylate may follow. - A clinical trial of targeted therapy with imatinib mesylate following surgery, to decrease the chance the tumor will recur (come back). + + + Unresectable Gastrointestinal Stromal Tumors + Unresectable GISTs cannot be completely removed by surgery because they are too large or in a place where there would be too much damage to nearby organs if the tumor is removed. Treatment is usually a clinical trial of targeted therapy with imatinib mesylate to shrink the tumor, followed by surgery to remove as much of the tumor as possible. + + + Metastatic and Recurrent Gastrointestinal Stromal Tumors + Treatment of GISTs that are metastatic (spread to other parts of the body) or recurrent (came back after treatment) may include the following: - Targeted therapy with imatinib mesylate. - Targeted therapy with sunitinib, if the tumor begins to grow during imatinib mesylate therapy or if the side effects are too bad. - Surgery to remove tumors that have been treated with targeted therapy and are shrinking, stable (not changing), or that have slightly increased in size. Targeted therapy may continue after surgery. - Surgery to remove tumors when there are serious complications, such as bleeding, a hole in the gastrointestinal (GI) tract, a blocked GI tract, or infection. - A clinical trial of a new treatment. + + + Refractory Gastrointestinal Stromal Tumors + Many GISTs treated with a tyrosine kinase inhibitor (TKI) become refractory (stop responding) to the drug after a while. Treatment is usually a clinical trial with a different TKI or a clinical trial of a new drug. + + + Treatment Options in Clinical Trials + Check the list of NCI-supported cancer clinical trials that are now accepting patients with gastrointestinal stromal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Gastrointestinal Stromal Tumors +What is (are) Adult Primary Liver Cancer ?,"Key Points + - Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are two types of adult primary liver cancer. - Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. - Signs and symptoms of adult primary liver cancer include a lump or pain on the right side. - Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. + The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fat that comes from food. - To store glycogen (sugar), which the body uses for energy. + + + There are two types of adult primary liver cancer. + The two types of adult primary liver cancer are: - Hepatocellular carcinoma. - Cholangiocarcinoma (bile duct cancer). (See the PDQ summary on Bile Duct Cancer Treatment for more information.) The most common type of adult primary liver cancer is hepatocellular carcinoma. This type of liver cancer is the third leading cause of cancer-related deaths worldwide. This summary is about the treatment of primary liver cancer (cancer that begins in the liver). Treatment of cancer that begins in other parts of the body and spreads to the liver is not covered in this summary. Primary liver cancer can occur in both adults and children. However, treatment for children is different than treatment for adults. (See the PDQ summary on Childhood Liver Cancer Treatment for more information.)",CancerGov,Adult Primary Liver Cancer +Who is at risk for Adult Primary Liver Cancer? ?,"Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The following are risk factors for adult primary liver cancer: - Having hepatitis B or hepatitis C. Having both hepatitis B and hepatitis C increases the risk even more. - Having cirrhosis, which can be caused by: - hepatitis (especially hepatitis C); or - drinking large amounts of alcohol for many years or being an alcoholic. - Having metabolic syndrome, a set of conditions that occur together, including extra fat around the abdomen, high blood sugar, high blood pressure, high levels of triglycerides and low levels of high-density lipoproteins in the blood. - Having liver injury that is long-lasting, especially if it leads to cirrhosis. - Having hemochromatosis, a condition in which the body takes up and stores more iron than it needs. The extra iron is stored in the liver, heart, and pancreas - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).",CancerGov,Adult Primary Liver Cancer +What are the symptoms of Adult Primary Liver Cancer ?,"Signs and symptoms of adult primary liver cancer include a lump or pain on the right side. These and other signs and symptoms may be caused by adult primary liver cancer or by other conditions. Check with your doctor if you have any of the following: - A hard lump on the right side just below the rib cage. - Discomfort in the upper abdomen on the right side. - A swollen abdomen. - Pain near the right shoulder blade or in the back. - Jaundice (yellowing of the skin and whites of the eyes). - Easy bruising or bleeding. - Unusual tiredness or weakness. - Nausea and vomiting. - Loss of appetite or feelings of fullness after eating a small meal. - Weight loss for no known reason. - Pale, chalky bowel movements and dark urine. - Fever.",CancerGov,Adult Primary Liver Cancer +How to diagnose Adult Primary Liver Cancer ?,"Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. An increased level of alpha-fetoprotein (AFP) in the blood may be a sign of liver cancer. Other cancers and certain noncancerous conditions, including cirrhosis and hepatitis, may also increase AFP levels. Sometimes the AFP level is normal even when there is liver cancer. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver cancer. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase CT. A spiral or helical CT scan makes a series of very detailed pictures of areas inside the body using an x-ray machine that scans the body in a spiral path. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the liver. This procedure is also called nuclear magnetic resonance imaging (NMRI). To create detailed pictures of blood vessels in and near the liver, dye is injected into a vein. This procedure is called MRA (magnetic resonance angiography). Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase MRI. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Procedures used to collect the sample of cells or tissues include the following: - Fine-needle aspiration biopsy : The removal of cells, tissue or fluid using a thin needle. - Core needle biopsy : The removal of cells or tissue using a slightly wider needle. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Another instrument is inserted through the same or another incision to remove the tissue samples. A biopsy is not always needed to diagnose adult primary liver cancer.",CancerGov,Adult Primary Liver Cancer +What is the outlook for Adult Primary Liver Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor, whether it affects part or all of the liver, or has spread to other places in the body). - How well the liver is working. - The patients general health, including whether there is cirrhosis of the liver.",CancerGov,Adult Primary Liver Cancer +What are the stages of Adult Primary Liver Cancer ?,"Key Points + - After adult primary liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The Barcelona Clinic Liver Cancer Staging System may be used to stage adult primary liver cancer. - The following groups are used to plan treatment. - BCLC stages 0, A, and B - BCLC stages C and D + + + After adult primary liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. + The process used to find out if cancer has spread within the liver or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if primary liver cancer spreads to the lung, the cancer cells in the lung are actually liver cancer cells. The disease is metastatic liver cancer, not lung cancer. + + + The Barcelona Clinic Liver Cancer Staging System may be used to stage adult primary liver cancer. + There are several staging systems for liver cancer. The Barcelona Clinic Liver Cancer (BCLC) Staging System is widely used and is described below. This system is used to predict the patient's chance of recovery and to plan treatment, based on the following: - Whether the cancer has spread within the liver or to other parts of the body. - How well the liver is working. - The general health and wellness of the patient. - The symptoms caused by the cancer. The BCLC staging system has five stages: - Stage 0: Very early - Stage A: Early - Stage B: Intermediate - Stage C: Advanced - Stage D: End-stage + + + The following groups are used to plan treatment. + BCLC stages 0, A, and B Treatment to cure the cancer is given for BCLC stages 0, A, and B. BCLC stages C and D Treatment to relieve the symptoms caused by liver cancer and improve the patient's quality of life is given for BCLC stages C and D. Treatments are not likely to cure the cancer.",CancerGov,Adult Primary Liver Cancer +what research (or clinical trials) is being done for Adult Primary Liver Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Primary Liver Cancer +What are the treatments for Adult Primary Liver Cancer ?,"Key Points + - There are different types of treatment for patients with adult primary liver cancer. - Patients with liver cancer are treated by a team of specialists who are experts in treating liver cancer. - Seven types of standard treatment are used: - Surveillance - Surgery - Liver transplant - Ablation therapy - Embolization therapy - Targeted therapy - Radiation therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult primary liver cancer. + Different types of treatments are available for patients with adult primary liver cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Patients with liver cancer are treated by a team of specialists who are experts in treating liver cancer. + The patient's treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. The medical oncologist may refer the patient to other health professionals who have special training in treating patients with liver cancer. These may include the following specialists: - Hepatologist (specialist in liver disease). - Surgical oncologist. - Transplant surgeon. - Radiation oncologist. - Interventional radiologist (a specialist who diagnoses and treats diseases using imaging and the smallest incisions possible). - Pathologist. + + + Seven types of standard treatment are used: + Surveillance Surveillance for lesions smaller than 1 centimeter found during screening. Follow-up every three months is common. Surgery A partial hepatectomy (surgery to remove the part of the liver where cancer is found) may be done. A wedge of tissue, an entire lobe, or a larger part of the liver, along with some of the healthy tissue around it is removed. The remaining liver tissue takes over the functions of the liver and may regrow. Liver transplant In a liver transplant, the entire liver is removed and replaced with a healthy donated liver. A liver transplant may be done when the disease is in the liver only and a donated liver can be found. If the patient has to wait for a donated liver, other treatment is given as needed. Ablation therapy Ablation therapy removes or destroys tissue. Different types of ablation therapy are used for liver cancer: - Radiofrequency ablation: The use of special needles that are inserted directly through the skin or through an incision in the abdomen to reach the tumor. High-energy radio waves heat the needles and tumor which kills cancer cells. - Microwave therapy: A type of treatment in which the tumor is exposed to high temperatures created by microwaves. This can damage and kill cancer cells or make them more sensitive to the effects of radiation and certain anticancer drugs. - Percutaneous ethanol injection: A cancer treatment in which a small needle is used to inject ethanol (pure alcohol) directly into a tumor to kill cancer cells. Several treatments may be needed. Usually local anesthesia is used, but if the patient has many tumors in the liver, general anesthesia may be used. - Cryoablation: A treatment that uses an instrument to freeze and destroy cancer cells. This type of treatment is also called cryotherapy and cryosurgery. The doctor may use ultrasound to guide the instrument. - Electroporation therapy: A treatment that sends electrical pulses through an electrode placed in a tumor to kill cancer cells. Electroporation therapy is being studied in clinical trials. Embolization therapy Embolization therapy is the use of substances to block or decrease the flow of blood through the hepatic artery to the tumor. When the tumor does not get the oxygen and nutrients it needs, it will not continue to grow. Embolization therapy is used for patients who cannot have surgery to remove the tumor or ablation therapy and whose tumor has not spread outside the liver. The liver receives blood from the hepatic portal vein and the hepatic artery. Blood that comes into the liver from the hepatic portal vein usually goes to the healthy liver tissue. Blood that comes from the hepatic artery usually goes to the tumor. When the hepatic artery is blocked during embolization therapy, the healthy liver tissue continues to receive blood from the hepatic portal vein. There are two main types of embolization therapy: - Transarterial embolization (TAE): A small incision (cut) is made in the inner thigh and a catheter (thin, flexible tube) is inserted and threaded up into the hepatic artery. Once the catheter is in place, a substance that blocks the hepatic artery and stops blood flow to the tumor is injected. - Transarterial chemoembolization (TACE): This procedure is like TAE except an anticancer drug is also given. The procedure can be done by attaching the anticancer drug to small beads that are injected into the hepatic artery or by injecting the anticancer drug through the catheter into the hepatic artery and then injecting the substance to block the hepatic artery. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. This type of treatment is also called chemoembolization. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Adult liver cancer may be treated with a targeted therapy drug that stops cells from dividing and prevents the growth of new blood vessels that tumors need to grow. See Drugs Approved for Liver Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of external radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Proton beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. This type of treatment causes less damage to nearby healthy tissue. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat adult primary liver cancer. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Adult Primary Liver Cancer + + + Stages 0, A, and B Adult Primary Liver Cancer + Treatment of stages 0, A, and B adult primary liver cancer may include the following: - Surveillance for lesions smaller than 1 centimeter. - Partial hepatectomy. - Total hepatectomy and liver transplant. - Ablation of the tumor using one of the following methods: - Radiofrequency ablation. - Microwave therapy. - Percutaneous ethanol injection. - Cryoablation. - A clinical trial of electroporation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 adult primary liver cancer (BCLC), stage A adult primary liver cancer (BCLC) and stage B adult primary liver cancer (BCLC). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stages C and D Adult Primary Liver Cancer + Treatment of stages C and D adult primary liver cancer may include the following: - Embolization therapy using one of the following methods: - Transarterial embolization (TAE). - Transarterial chemoembolization (TACE). - Targeted therapy. - Radiation therapy. - A clinical trial of targeted therapy after chemoembolization or combined with chemotherapy. - A clinical trial of new targeted therapy drugs. - A clinical trial of targeted therapy with or without stereotactic body radiation therapy. - A clinical trial of stereotactic body radiation therapy or proton-beam radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage C adult primary liver cancer (BCLC) and stage D adult primary liver cancer (BCLC). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Adult Primary Liver Cancer +What is (are) Prostate Cancer ?,"Key Points + - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the most common nonskin cancer among men in the United States. - Different factors increase or decrease the risk of developing prostate cancer. + + + Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. + The prostate is a gland in the male reproductive system located just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH), and although it is not cancer, surgery may be needed to correct it. The symptoms of benign prostatic hyperplasia or of other problems in the prostate may be similar to symptoms of prostate cancer. See the following PDQ summaries for more information about prostate cancer: - Prostate Cancer Prevention - Prostate Cancer Treatment",CancerGov,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Prostate cancer is the most common nonskin cancer among men in the United States. Prostate cancer is found mainly in older men. Although the number of men with prostate cancer is large, most men diagnosed with this disease do not die from it. Prostate cancer causes more deaths in men than any other cancer except lung cancer and colorectal cancer. Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer.",CancerGov,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Different factors increase or decrease the risk of developing prostate cancer. Anything that increases a person's chance of developing a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for prostate cancer, see the PDQ summary on Prostate Cancer Prevention.",CancerGov,Prostate Cancer +What is (are) Childhood Central Nervous System Embryonal Tumors ?,"Key Points + - Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. - There are different types of CNS embryonal tumors. - Pineoblastomas form in cells of the pineal gland. - Certain genetic conditions increase the risk of childhood CNS embryonal tumors. - Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. - Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. - A biopsy may be done to be sure of the diagnosis of CNS embryonal tumor or pineoblastoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. + Central nervous system (CNS) embryonal tumors form in embryonic cells that remain in the brain after birth. CNS embryonal tumors tend to spread through the cerebrospinal fluid (CSF) to other parts of the brain and spinal cord. The tumors may be malignant (cancer) or benign (not cancer). Most CNS embryonal tumors in children are malignant. Malignant brain tumors are likely to grow quickly and spread into other parts of the brain. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Benign brain tumors grow and press on nearby areas of the brain. They rarely spread to other parts of the brain. Both benign and malignant brain tumors can cause signs or symptoms and need treatment. Although cancer is rare in children, brain tumors are the third most common type of childhood cancer, after leukemia and lymphoma. This summary is about the treatment of primary brain tumors (tumors that begin in the brain). The treatment of metastatic brain tumors, which begin in other parts of the body and spread to the brain, is not discussed in this summary. For information about the different types of brain and spinal cord tumors, see the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview. Brain tumors occur in both children and adults. Treatment for adults may be different from treatment for children. See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information on the treatment of adults. + + + There are different types of CNS embryonal tumors. + The different types of CNS embryonal tumors include: - Medulloblastomas Most CNS embryonal tumors are medulloblastomas. Medulloblastomas are fast-growing tumors that form in brain cells in the cerebellum. The cerebellum is at the lower back part of the brain between the cerebrum and the brain stem. The cerebellum controls movement, balance, and posture. Medulloblastomas sometimes spread to the bone, bone marrow, lung, or other parts of the body, but this is rare. - Nonmedulloblastoma embryonal tumors Nonmedulloblastoma embryonal tumors are fast-growing tumors that usually form in brain cells in the cerebrum. The cerebrum is at the top of the head and is the largest part of the brain. The cerebrum controls thinking, learning, problem-solving, emotions, speech, reading, writing, and voluntary movement. Nonmedulloblastoma embryonal tumors may also form in the brain stem or spinal cord. There are four types of nonmedulloblastoma embryonal tumors: - Embryonal tumors with multilayered rosettes Embryonal tumors with multilayered rosettes (ETMR) are rare tumors that form in the brain and spinal cord. ETMR most commonly occur in young children and are fast-growing tumors. - Medulloepitheliomas Medulloepitheliomas are fast-growing tumors that usually form in the brain, spinal cord or nerves just outside the spinal column. They occur most often in infants and young children. - CNS neuroblastomas CNS neuroblastomas are a very rare type of neuroblastoma that form in the nerve tissue of the cerebrum or the layers of tissue that cover the brain and spinal cord. CNS neuroblastomas may be large and spread to other parts of the brain or spinal cord. - CNS ganglioneuroblastomas CNS ganglioneuroblastomas are rare tumors that form in nerve tissue of the brain and spinal cord. They may form in one area and be fast growing or form in more than one area and be slow growing. Childhood CNS atypical teratoid/rhabdoid tumor is also a type of embryonal tumor, but it is treated differently than other childhood CNS embryonal tumors. See the PDQ summary on Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment for more information. + + + Pineoblastomas form in cells of the pineal gland. + The pineal gland is a tiny organ in the center of the brain. The gland makes melatonin, a substance that helps control our sleep cycle. Pineoblastomas form in cells of the pineal gland and are usually malignant. Pineoblastomas are fast-growing tumors with cells that look very different from normal pineal gland cells. Pineoblastomas are not a type of CNS embryonal tumor but treatment for them is a lot like treatment for CNS embryonal tumors. Pineoblastoma is linked with inherited changes in the retinoblastoma (RB1) gene. A child with the inherited form of retinoblastoma (cancer than forms in the tissues of the retina) has an increased risk of pineoblastoma. When retinoblastoma forms at the same time as a tumor in or near the pineal gland, it is called trilateral retinoblastoma. MRI (magnetic resonance imaging) testing in children with retinoblastoma may detect pineoblastoma at an early stage when it can be treated successfully.",CancerGov,Childhood Central Nervous System Embryonal Tumors +Who is at risk for Childhood Central Nervous System Embryonal Tumors? ?,"Certain genetic conditions increase the risk of childhood CNS embryonal tumors. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for CNS embryonal tumors include having the following inherited diseases: - Turcot syndrome. - Rubinstein-Taybi syndrome. - Nevoid basal cell carcinoma (Gorlin) syndrome. - Li-Fraumeni syndrome. - Fanconi anemia. In most cases, the cause of CNS embryonal tumors is not known.",CancerGov,Childhood Central Nervous System Embryonal Tumors +What are the symptoms of Childhood Central Nervous System Embryonal Tumors ?,"Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. These and other signs and symptoms may be caused by childhood CNS embryonal tumors, pineoblastomas, or other conditions. Check with your child's doctor if your child has any of the following: - Loss of balance, trouble walking, worsening handwriting, or slow speech. - Lack of coordination. - Headache, especially in the morning, or headache that goes away after vomiting. - Double vision or other eye problems. - Nausea and vomiting. - General weakness or weakness on one side of the face. - Unusual sleepiness or change in energy level. - Seizures. Infants and young children with these tumors may be irritable or grow slowly. Also they may not eat well or meet developmental milestones such as sitting, walking, and talking in sentences.",CancerGov,Childhood Central Nervous System Embryonal Tumors +How to diagnose Childhood Central Nervous System Embryonal Tumors ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a patient's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) of the brain and spinal cord with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the MRI scan to look at the chemicals in brain tissue. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. + A biopsy may be done to be sure of the diagnosis of CNS embryonal tumor or pineoblastoma. If doctors think your child may have a CNS embryonal tumor or pineoblastoma, a biopsy may be done. For brain tumors, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. Sometimes, a computer-guided needle is used to remove the tissue sample. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The piece of skull is usually put back in place after the procedure. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of brain tumors.",CancerGov,Childhood Central Nervous System Embryonal Tumors +What is the outlook for Childhood Central Nervous System Embryonal Tumors ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of tumor and where it is in the brain. - Whether the cancer has spread within the brain and spinal cord when the tumor is found. - The age of the child when the tumor is found. - How much of the tumor remains after surgery. - Whether there are certain changes in the chromosomes, genes, or brain cells. - Whether the tumor has just been diagnosed or has recurred (come back).",CancerGov,Childhood Central Nervous System Embryonal Tumors +what research (or clinical trials) is being done for Childhood Central Nervous System Embryonal Tumors ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Central Nervous System Embryonal Tumors +What are the treatments for Childhood Central Nervous System Embryonal Tumors ?,"Key Points + - There are different types of treatment for children who have central nervous system (CNS) embryonal tumors. - Children who have CNS embryonal tumors should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Five types of treatment are used: - Surgery - Radiation therapy - Chemotherapy - High-dose chemotherapy with stem cell rescue - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children who have central nervous system (CNS) embryonal tumors. + Different types of treatment are available for children with central nervous system (CNS) embryonal tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children who have CNS embryonal tumors should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Neurologist. - Neuropathologist. - Neuroradiologist. - Rehabilitation specialist. - Radiation oncologist. - Psychologist. + + + Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Signs or symptoms caused by the tumor may begin before the cancer is diagnosed and continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Children diagnosed with medulloblastoma may have certain problems after surgery or radiation therapy such as changes in the ability to think, learn, and pay attention. Also, cerebellar mutism syndrome may occur after surgery. Signs of this syndrome include the following: - Delayed ability to speak. - Trouble swallowing and eating. - Loss of balance, trouble walking, and worsening handwriting. - Loss of muscle tone. - Mood swings and changes in personality. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Five types of treatment are used: + Surgery Surgery is used to diagnose and treat a childhood CNS embryonal tumor as described in the General Information section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy and/or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. - Stereotactic radiation therapy: Stereotactic radiation therapy is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims radiation directly at the tumor, causing less damage to nearby healthy tissue. The total dose of radiation is divided into several smaller doses given over several days. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Radiation therapy to the brain can affect growth and development in young children. For this reason, clinical trials are studying new ways of giving radiation that may have fewer side effects than standard methods. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood CNS embryonal tumors. Because radiation therapy can affect growth and brain development in young children, especially children who are three years old or younger, chemotherapy may be given to delay or reduce the need for radiation therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type of cancer being treated. Regular dose anticancer drugs given by mouth or vein to treat central nervous system tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells that may have spread there. This is called intrathecal or intraventricular chemotherapy. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Signal transduction inhibitors are a type of targeted therapy used to treat recurrent medulloblastoma. Signal transduction inhibitors block signals that are passed from one molecule to another inside a cell. Blocking these signals may kill cancer cells. Vismodegib is a type of signal transduction inhibitor. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. (See the General Information section for a list of tests.) Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. This is sometimes called re-staging. Some of the imaging tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the brain tumor has recurred (come back). If the imaging tests show abnormal tissue in the brain, a biopsy may also be done to find out if the tissue is made up of dead tumor cells or if new cancer cells are growing. These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Central Nervous System Embryonal Tumors and Childhood Pineoblastoma + + + Newly Diagnosed Childhood Medulloblastoma + In newly diagnosed childhood medulloblastoma, the tumor itself has not been treated. The child may have received drugs or treatment to relieve signs or symptoms caused by the tumor. Children older than 3 years with average-risk medulloblastoma Standard treatment of average-risk medulloblastoma in children older than 3 years includes the following: - Surgery to remove as much of the tumor as possible. This is followed by radiation therapy to the brain and spinal cord. Chemotherapy is also given during and after radiation therapy. - Surgery to remove the tumor, radiation therapy, and high-dose chemotherapy with stem cell rescue. Children older than 3 years with high-risk medulloblastoma Standard treatment of high-risk medulloblastoma in children older than 3 years includes the following: - Surgery to remove as much of the tumor as possible. This is followed by a larger dose of radiation therapy to the brain and spinal cord than the dose given for average-risk medulloblastoma. Chemotherapy is also given during and after radiation therapy. - Surgery to remove the tumor, radiation therapy, and high-dose chemotherapy with stem cell rescue. - A clinical trial of new combinations of radiation therapy and chemotherapy. Children aged 3 years and younger Standard treatment of medulloblastoma in children aged 3 years and younger is: - Surgery to remove as much of the tumor as possible, followed by chemotherapy. Other treatments that may be given after surgery include the following: - Chemotherapy with or without radiation therapy to the area where the tumor was removed. - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood medulloblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Nonmedulloblastoma Embryonal Tumors + In newly diagnosed childhood nonmedulloblastoma embryonal tumors, the tumor itself has not been treated. The child may have received drugs or treatment to relieve symptoms caused by the tumor. Children older than 3 years Standard treatment of nonmedulloblastoma embryonal tumors in children older than 3 years is: - Surgery to remove as much of the tumor as possible. This is followed by radiation therapy to the brain and spinal cord. Chemotherapy is also given during and after radiation therapy. Children aged 3 years and younger Standard treatment of nonmedulloblastoma embryonal tumors in children aged 3 years and younger is: - Surgery to remove as much of the tumor as possible, followed by chemotherapy. Other treatments that may be given after surgery include the following: - Chemotherapy and radiation therapy to the area where the tumor was removed. - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood nonmedulloblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Medulloepithelioma + In newly diagnosed childhood medulloepithelioma, the tumor itself has not been treated. The child may have received drugs or treatment to relieve symptoms caused by the tumor. Children older than 3 years Standard treatment of medulloepithelioma in children older than 3 years includes the following: - Surgery to remove as much of the tumor as possible. This is followed by radiation therapy to the brain and spinal cord. Chemotherapy is also given during and after radiation therapy. - Surgery to remove the tumor, radiation therapy, and high-dose chemotherapy with stem cell rescue. - A clinical trial of new combinations of radiation therapy and chemotherapy. Children aged 3 years and younger Standard treatment of medulloepithelioma in children aged 3 years and younger includes the following: - Surgery to remove as much of the tumor as possible, followed by chemotherapy. - High-dose chemotherapy with stem cell rescue. - Radiation therapy, when the child is older. - A clinical trial of new combinations and schedules of chemotherapy or new combinations of chemotherapy with stem cell rescue. Treatment of medulloepithelioma in children aged 3 years and younger is often within a clinical trial. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood medulloepithelioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Pineoblastoma + In newly diagnosed childhood pineoblastoma, the tumor itself has not been treated. The child may have received drugs or treatment to relieve symptoms caused by the tumor. Children older than 3 years Standard treatment of pineoblastoma in children older than 3 years includes the following: - Surgery to remove the tumor. The tumor usually cannot be completely removed because of where it is in the brain. Surgery is often followed by radiation therapy to the brain and spinal cord and chemotherapy. - A clinical trial of high-dose chemotherapy after radiation therapy and stem cell rescue. - A clinical trial of chemotherapy during radiation therapy. Children aged 3 years and younger Standard treatment of pineoblastoma in children aged 3 years and younger includes the following: - Biopsy to diagnose pineoblastoma followed by chemotherapy. - If the tumor responds to chemotherapy, radiation therapy is given when the child is older. - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood pineoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Central Nervous System Embryonal Tumors and Pineoblastomas + The treatment of central nervous system (CNS) embryonal tumors and pineoblastoma that recur (come back) depends on: - The type of tumor. - Whether the tumor recurred where it first formed or has spread to other parts of the brain, spinal cord, or body. - The type of treatment given in the past. - How much time has passed since the initial treatment ended. - Whether the patient has signs or symptoms. Treatment for recurrent childhood CNS embryonal tumors and pineoblastomas may include the following: - For children who previously received radiation therapy and chemotherapy, treatment may include repeat radiation at the site where the cancer started and where the tumor has spread. Stereotactic radiation therapy and/or chemotherapy may also be used. - For infants and young children who previously received chemotherapy only and have a local recurrence, treatment may be chemotherapy with radiation therapy to the tumor and the area close to it. Surgery to remove the tumor may also be done. - For patients who previously received radiation therapy, high-dose chemotherapy and stem cell rescue may be used. It is not known whether this treatment improves survival. - Targeted therapy with a signal transduction inhibitor for patients whose cancer has certain changes in the genes. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood central nervous system embryonal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Central Nervous System Embryonal Tumors +What is (are) Adult Hodgkin Lymphoma ?,"Key Points + - Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. - Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. + Adult Hodgkin lymphoma is a type of cancer that develops in the lymph system, part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Cancer can spread to the liver and lungs. Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult Hodgkin lymphoma. (See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. Hodgkin lymphoma may also occur in patients who have acquired immunodeficiency syndrome (AIDS); these patients require special treatment. See the following PDQ summaries for more information: - Childhood Hodgkin Lymphoma Treatment - AIDS-Related Lymphoma Treatment Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information about treating Hodgkin lymphoma during pregnancy. + + + There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. + Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four subtypes: - Nodular sclerosing Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte depletion Hodgkin lymphoma. - Lymphocyte-rich classical Hodgkin lymphoma.",CancerGov,Adult Hodgkin Lymphoma +Who is at risk for Adult Hodgkin Lymphoma? ?,"Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for adult Hodgkin lymphoma include the following: - Being in young or late adulthood. - Being male. - Being infected with the Epstein-Barr virus. - Having a first-degree relative (parent, brother, or sister) with Hodgkin lymphoma. Pregnancy is not a risk factor for Hodgkin lymphoma.",CancerGov,Adult Hodgkin Lymphoma +What are the symptoms of Adult Hodgkin Lymphoma ?,"Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by adult Hodgkin lymphoma or by other conditions. Check with your doctor if any of the following do not go away: - Painless, swollen lymph nodes in the neck, underarm, or groin. - Fever for no known reason. - Drenching night sweats. - Weight loss for no known reason. - Itchy skin. - Feeling very tired.",CancerGov,Adult Hodgkin Lymphoma +How to diagnose Adult Hodgkin Lymphoma ?,"Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Sedimentation rate : A procedure in which a sample of blood is drawn and checked for the rate at which the red blood cells settle to the bottom of the test tube. The sedimentation rate is a measure of how much inflammation is in the body. A higher than normal sedimentation rate may be a sign of lymphoma or another condition. Also called erythrocyte sedimentation rate, sed rate, or ESR. - Lymph node biopsy : The removal of all or part of a lymph node. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of part of a lymph node using a wide needle. A pathologist views the tissue under a microscope to look for cancer cells, especially Reed-Sternberg cells. Reed-Sternberg cells are common in classical Hodgkin lymphoma. The following test may be done on tissue that was removed: - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose the specific type of lymphoma by comparing the cancer cells to normal cells of the immune system.",CancerGov,Adult Hodgkin Lymphoma +What is the outlook for Adult Hodgkin Lymphoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's signs and symptoms. - The stage of the cancer. - The type of Hodgkin lymphoma. - Blood test results. - The patient's age, gender, and general health. - Whether the cancer is recurrent or progressive. For Hodgkin lymphoma during pregnancy, treatment options also depend on: - The wishes of the patient. - The age of the fetus. Adult Hodgkin lymphoma can usually be cured if found and treated early.",CancerGov,Adult Hodgkin Lymphoma +what research (or clinical trials) is being done for Adult Hodgkin Lymphoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy and radiation therapy with stem cell transplant High-dose chemotherapy and radiation therapy with stem cell transplant is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. The use of lower-dose chemotherapy and radiation therapy with stem cell transplant is also being studied. Monoclonal antibody therapy Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Adult Hodgkin Lymphoma +What are the stages of Adult Hodgkin Lymphoma ?,"Key Points + - After adult Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult Hodgkin lymphoma may include A, B, E, and S. - The following stages are used for adult Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV - Adult Hodgkin lymphoma may be grouped for treatment as follows: - Early Favorable - Early Unfavorable - Advanced + + + After adult Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. + The process used to find out if cancer has spread within the lymph system or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For adult Hodgkin lymphoma, CT scans of the neck, chest, abdomen, and pelvis are taken. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. For pregnant women with Hodgkin lymphoma, staging tests that protect the fetus from the harms of radiation are used. These include: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Stages of adult Hodgkin lymphoma may include A, B, E, and S. + Adult Hodgkin lymphoma may be described as follows: - A: The patient does not have B symptoms (fever, weight loss, or night sweats). - B: The patient has B symptoms. - E: Cancer is found in an organ or tissue that is not part of the lymph system but which may be next to an involved area of the lymph system. - S: Cancer is found in the spleen. + + + The following stages are used for adult Hodgkin lymphoma: + Stage I Stage I is divided into stage I and stage IE. - Stage I: Cancer is found in one of the following places in the lymph system: - One or more lymph nodes in one lymph node group. - Waldeyer's ring. - Thymus. - Spleen. - Stage IE: Cancer is found outside the lymph system in one organ or area. Stage II Stage II is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm and outside the lymph nodes in a nearby organ or area. Stage III Stage III is divided into stage III, stage IIIE, stage IIIS, and stage IIIE,S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE,S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV, the cancer: - is found outside the lymph nodes throughout one or more organs, and may be in lymph nodes near those organs; or - is found outside the lymph nodes in one organ and has spread to areas far away from that organ; or - is found in the lung, liver, bone marrow, or cerebrospinal fluid (CSF). The cancer has not spread to the lung, liver, bone marrow, or CSF from nearby areas. + + + Adult Hodgkin lymphoma may be grouped for treatment as follows: + Early Favorable Early favorable adult Hodgkin lymphoma is stage I or stage II, without risk factors. Early Unfavorable Early unfavorable adult Hodgkin lymphoma is stage I or stage II with one or more of the following risk factors: - A tumor in the chest that is larger than 1/3 of the width of the chest or at least 10 centimeters. - Cancer in an organ other than the lymph nodes. - A high sedimentation rate (in a sample of blood, the red blood cells settle to the bottom of the test tube more quickly than normal). - Three or more lymph nodes with cancer. - Symptoms such as fever, weight loss, or night sweats. Advanced Advanced Hodgkin lymphoma includes some or all of the following risk factors: - Being male. - Being aged 45 years or older. - Having stage IV disease. - Having a low blood albumin (protein) level (below 4). - Having a low hemoglobin level (below 10.5). - Having a high white blood cell count (15,000 or higher). - Having a low lymphocyte count (below 600 or less than 8% of the white blood cell count).",CancerGov,Adult Hodgkin Lymphoma +What are the treatments for Adult Hodgkin Lymphoma ?,"Key Points + - There are different types of treatment for patients with adult Hodgkin lymphoma. - Patients with Hodgkin lymphoma should have their treatment planned by a team of health care providers with expertise in treating lymphomas. - Patients may develop late effects that appear months or years after their treatment for Hodgkin lymphoma. - Three types of standard treatment are used: - Chemotherapy - Radiation therapy - Surgery - For pregnant patients with Hodgkin lymphoma, treatment options also include: - Watchful waiting - Steroid therapy - New types of treatment are being tested in clinical trials. - Chemotherapy and radiation therapy with stem cell transplant - Monoclonal antibody therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult Hodgkin lymphoma. + Different types of treatment are available for patients with adult Hodgkin lymphoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. For pregnant women with Hodgkin lymphoma, treatment is carefully chosen to protect the fetus. Treatment decisions are based on the mothers wishes, the stage of the Hodgkin lymphoma, and the age of the fetus. The treatment plan may change as the signs and symptoms, cancer, and pregnancy change. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Patients with Hodgkin lymphoma should have their treatment planned by a team of health care providers with expertise in treating lymphomas. + Treatment will be overseen by a medical oncologist, a doctor who specializes in treating cancer. The medical oncologist may refer you to other health care providers who have experience and expertise in treating adult Hodgkin lymphoma and who specialize in certain areas of medicine. These may include the following specialists: - Neurosurgeon. - Neurologist. - Rehabilitation specialist. - Radiation oncologist. - Endocrinologist. - Hematologist. - Other oncology specialists. + + + Patients may develop late effects that appear months or years after their treatment for Hodgkin lymphoma. + Treatment with chemotherapy and/or radiation therapy for Hodgkin lymphoma may increase the risk of second cancers and other health problems for many months or years after treatment. These late effects depend on the type of treatment and the patient's age when treated, and may include: - Acute myelogenous leukemia. - Cancer of the breast, bone, cervix, gastrointestinal tract, head and neck, lung, soft tissue, and thyroid. - Heart, lung, and thyroid disease. - Avascular necrosis of bone (death of bone cells caused by lack of blood flow). - Herpes zoster (shingles) or severe infection. - Depression and fatigue. - Infertility. - Hypogonadism (low levels of testosterone and estrogen). Regular follow-up by doctors who are expert in finding and treating late effects is important for the long-term health of patients treated for Hodgkin lymphoma. + + + Three types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Combination chemotherapy is treatment with more than one anticancer drug. When a pregnant woman is treated with chemotherapy for Hodgkin lymphoma, it isn't possible to protect the fetus from being exposed to the chemotherapy. Some chemotherapy regimens may cause birth defects if given in the first trimester. Vinblastine is an anticancer drug that has not been linked with birth defects when given in the second half of pregnancy. See Drugs Approved for Hodgkin Lymphoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat adult Hodgkin lymphoma. For a pregnant woman with Hodgkin lymphoma, radiation therapy should be postponed until after delivery, if possible, to avoid any risk to the fetus. If immediate treatment is needed, the woman may decide to continue the pregnancy and receive radiation therapy. However, lead used to shield the fetus may not protect it from scattered radiation that could possibly cause cancer in the future. Surgery Laparotomy is a procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. The size of the incision depends on the reason the laparotomy is being done. Sometimes organs are removed or tissue samples are taken and checked under a microscope for signs of disease. If cancer is found, the tissue or organ is removed during the laparotomy. + + + For pregnant patients with Hodgkin lymphoma, treatment options also include: + Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment unless signs or symptoms appear or change. Delivery may be induced when the fetus is 32 to 36 weeks old, so that the mother can begin treatment. Steroid therapy Steroids are hormones made naturally in the body by the adrenal glands and by reproductive organs. Some types of steroids are made in a laboratory. Certain steroid drugs have been found to help chemotherapy work better and help stop the growth of cancer cells. Steroids can also help the lungs of the fetus develop faster than normal. This is important when delivery is induced early. See Drugs Approved for Hodgkin Lymphoma for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy and radiation therapy with stem cell transplant High-dose chemotherapy and radiation therapy with stem cell transplant is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. The use of lower-dose chemotherapy and radiation therapy with stem cell transplant is also being studied. Monoclonal antibody therapy Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Adult Hodgkin Lymphoma + + + Early Favorable Hodgkin Lymphoma + Treatment of early favorable Hodgkin lymphoma may include the following: - Combination chemotherapy. - Combination chemotherapy with radiation therapy to parts of the body with cancer. - Radiation therapy alone to areas of the body with cancer or to the mantle field (neck, chest, armpits). Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I adult Hodgkin lymphoma and stage II adult Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Early Unfavorable Hodgkin Lymphoma + Treatment of early unfavorable Hodgkin lymphoma may include the following: - Combination chemotherapy. - Combination chemotherapy with radiation therapy to parts of the body with cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I adult Hodgkin lymphoma and stage II adult Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Advanced Hodgkin Lymphoma + Treatment of advanced Hodgkin lymphoma may include the following: - Combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III adult Hodgkin lymphoma and stage IV adult Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Adult Hodgkin Lymphoma + Treatment of recurrent Hodgkin lymphoma may include the following: - Combination chemotherapy. - Combination chemotherapy followed by high-dose chemotherapy and stem cell transplant with or without radiation therapy. - Combination chemotherapy with radiation therapy to parts of the body with cancer in patients older than 60 years. - Radiation therapy with or without chemotherapy. - Chemotherapy as palliative therapy to relieve symptoms and improve quality of life. - A clinical trial of high-dose chemotherapy and stem cell transplant. - A clinical trial of lower-dose chemotherapy and radiation therapy followed by stem cell transplant. - A clinical trial of a monoclonal antibody. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent adult Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Treatment Options for Hodgkin Lymphoma During Pregnancy + + + Hodgkin Lymphoma During the First Trimester of Pregnancy + When Hodgkin lymphoma is diagnosed in the first trimester of pregnancy, it does not necessarily mean that the woman will be advised to end the pregnancy. Each woman's treatment will depend on the stage of the lymphoma, how fast it is growing, and her wishes. For women who choose to continue the pregnancy, treatment of Hodgkin lymphoma during the first trimester of pregnancy may include the following: - Watchful waiting when the cancer is above the diaphragm and is slow-growing. Delivery may be induced when the fetus is 32 to 36 weeks old so the mother can begin treatment. - Radiation therapy above the diaphragm. (A lead shield is used to protect the fetus from the radiation as much as possible.) - Systemic chemotherapy using one or more drugs. + + + Hodgkin Lymphoma During the Second Half of Pregnancy + When Hodgkin lymphoma is diagnosed in the second half of pregnancy, most women can delay treatment until after the baby is born. Treatment of Hodgkin lymphoma during the second half of pregnancy may include the following: - Watchful waiting, with plans to induce delivery when the fetus is 32 to 36 weeks old. - Systemic chemotherapy using one or more drugs. - Steroid therapy. - Radiation therapy to relieve breathing problems caused by a large tumor in the chest.",CancerGov,Adult Hodgkin Lymphoma +What is (are) Adult Acute Lymphoblastic Leukemia ?,"Key Points + - Adult acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. - Signs and symptoms of adult ALL include fever, feeling tired, and easy bruising or bleeding. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Adult acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). + Adult acute lymphoblastic leukemia (ALL; also called acute lymphocytic leukemia) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - Granulocytes (white blood cells) that fight infection and disease. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In ALL, too many stem cells become lymphoblasts, B lymphocytes, or T lymphocytes. These cells are also called leukemia cells. These leukemia cells are not able to fight infection very well. Also, as the number of leukemia cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. The cancer can also spread to the central nervous system (brain and spinal cord). This summary is about adult acute lymphoblastic leukemia. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Lymphoblastic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Lymphocytic Leukemia Treatment. - Chronic Myelogenous Leukemia Treatment. - Hairy Cell Leukemia Treatment.",CancerGov,Adult Acute Lymphoblastic Leukemia +What are the symptoms of Adult Acute Lymphoblastic Leukemia ?,"Signs and symptoms of adult ALL include fever, feeling tired, and easy bruising or bleeding. The early signs and symptoms of ALL may be like the flu or other common diseases. Check with your doctor if you have any of the following: - Weakness or feeling tired. - Fever or night sweats. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin, caused by bleeding). - Shortness of breath. - Weight loss or loss of appetite. - Pain in the bones or stomach. - Pain or feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, or groin. - Having many infections. These and other signs and symptoms may be caused by adult acute lymphoblastic leukemia or by other conditions.",CancerGov,Adult Acute Lymphoblastic Leukemia +How to diagnose Adult Acute Lymphoblastic Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as infection or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following tests may be done on the samples of blood or bone marrow tissue that are removed: - Cytogenetic analysis: A laboratory test in which the cells in a sample of blood or bone marrow are looked at under a microscope to find out if there are certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose the subtype of ALL by comparing the cancer cells to normal cells of the immune system. For example, a cytochemistry study may test the cells in a sample of tissue using chemicals (dyes) to look for certain changes in the sample. A chemical may cause a color change in one type of leukemia cell but not in another type of leukemia cell.",CancerGov,Adult Acute Lymphoblastic Leukemia +What is the outlook for Adult Acute Lymphoblastic Leukemia ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the cancer has spread to the brain or spinal cord. - Whether there are certain changes in the genes, including the Philadelphia chromosome. - Whether the cancer has been treated before or has recurred (come back).",CancerGov,Adult Acute Lymphoblastic Leukemia +Who is at risk for Adult Acute Lymphoblastic Leukemia? ?,"Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Possible risk factors for ALL include the following: - Being male. - Being white. - Being older than 70. - Past treatment with chemotherapy or radiation therapy. - Being exposed to high levels of radiation in the environment (such as nuclear radiation). - Having certain genetic disorders, such as Down syndrome.",CancerGov,Adult Acute Lymphoblastic Leukemia +What are the stages of Adult Acute Lymphoblastic Leukemia ?,"Key Points + - Once adult ALL has been diagnosed, tests are done to find out if the cancer has spread to the central nervous system (brain and spinal cord) or to other parts of the body. - There is no standard staging system for adult ALL. + + + Once adult ALL has been diagnosed, tests are done to find out if the cancer has spread to the central nervous system (brain and spinal cord) or to other parts of the body. + The extent or spread of cancer is usually described as stages. It is important to know whether the leukemia has spread outside the blood and bone marrow in order to plan treatment. The following tests and procedures may be used to determine if the leukemia has spread: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). + + + There is no standard staging system for adult ALL. + The disease is described as untreated, in remission, or recurrent. Untreated adult ALL The ALL is newly diagnosed and has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain. - The complete blood count is abnormal. - More than 5% of the cells in the bone marrow are blasts (leukemia cells). - There are signs and symptoms of leukemia. Adult ALL in remission The ALL has been treated. - The complete blood count is normal. - 5% or fewer of the cells in the bone marrow are blasts (leukemia cells). - There are no signs or symptoms of leukemia other than in the bone marrow.",CancerGov,Adult Acute Lymphoblastic Leukemia +What are the treatments for Adult Acute Lymphoblastic Leukemia ?,"Key Points + - There are different types of treatment for patients with adult ALL. - The treatment of adult ALL usually has two phases. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - Chemotherapy with stem cell transplant - Targeted therapy - New types of treatment are being tested in clinical trials. - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Patients with ALL may have late effects after treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with adult ALL. + Different types of treatment are available for patients with adult acute lymphoblastic leukemia (ALL). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + The treatment of adult ALL usually has two phases. + The treatment of adult ALL is done in phases: - Remission induction therapy: This is the first phase of treatment. The goal is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. - Post-remission therapy: This is the second phase of treatment. It begins once the leukemia is in remission. The goal of post-remission therapy is to kill any remaining leukemia cells that may not be active but could begin to regrow and cause a relapse. This phase is also called remission continuation therapy. Treatment called central nervous system (CNS) sanctuary therapy is usually given during each phase of therapy. Because standard doses of chemotherapy may not reach leukemia cells in the CNS (brain and spinal cord), the cells are able to ""find sanctuary"" (hide) in the CNS. Systemic chemotherapy given in high doses, intrathecal chemotherapy, and radiation therapy to the brain are able to reach leukemia cells in the CNS. They are given to kill the leukemia cells and lessen the chance the leukemia will recur (come back). CNS sanctuary therapy is also called CNS prophylaxis. + + + Four types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. Intrathecal chemotherapy may be used to treat adult ALL that has spread, or may spread, to the brain and spinal cord. When used to lessen the chance leukemia cells will spread to the brain and spinal cord, it is called central nervous system (CNS) sanctuary therapy or CNS prophylaxis. See Drugs Approved for Acute Lymphoblastic Leukemia for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer. External radiation therapy may be used to treat adult ALL that has spread, or may spread, to the brain and spinal cord. When used this way, it is called central nervous system (CNS) sanctuary therapy or CNS prophylaxis. External radiation therapy may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy with stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. See Drugs Approved for Acute Lymphoblastic Leukemia for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy drugs called tyrosine kinase inhibitors are used to treat some types of adult ALL. These drugs block the enzyme, tyrosine kinase, that causes stem cells to develop into more white blood cells (blasts) than the body needs. Three of the drugs used are imatinib mesylate (Gleevec), dasatinib, and nilotinib. See Drugs Approved for Acute Lymphoblastic Leukemia for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Patients with ALL may have late effects after treatment. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of treatment for ALL may include the risk of second cancers (new types of cancer). Regular follow-up exams are very important for long-term survivors. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Adult Acute Lymphoblastic Leukemia + + + Untreated Adult Acute Lymphoblastic Leukemia + Standard treatment of adult acute lymphoblastic leukemia (ALL) during the remission induction phase includes the following: - Combination chemotherapy. - Tyrosine kinase inhibitor therapy with imatinib mesylate, in certain patients. Some of these patients will also have combination chemotherapy. - Supportive care including antibiotics and red blood cell and platelet transfusions. - CNS prophylaxis therapy including chemotherapy (intrathecal and/or systemic) with or without radiation therapy to the brain. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated adult acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Adult Acute Lymphoblastic Leukemia in Remission + Standard treatment of adult ALL during the post-remission phase includes the following: - Chemotherapy. - Tyrosine kinase inhibitor therapy. - Chemotherapy with stem cell transplant. - CNS prophylaxis therapy including chemotherapy (intrathecal and/or systemic) with or without radiation therapy to the brain. Check the list of NCI-supported cancer clinical trials that are now accepting patients with adult acute lymphoblastic leukemia in remission. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Adult Acute Lymphoblastic Leukemia + Standard treatment of recurrent adult ALL may include the following: - Combination chemotherapy followed by stem cell transplant. - Low-dose radiation therapy as palliative care to relieve symptoms and improve the quality of life. - Tyrosine kinase inhibitor therapy with dasatinib for certain patients. Some of the treatments being studied in clinical trials for recurrent adult ALL include the following: - A clinical trial of stem cell transplant using the patient's stem cells. - A clinical trial of biologic therapy. - A clinical trial of new anticancer drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent adult acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Adult Acute Lymphoblastic Leukemia +What is (are) Chronic Myeloproliferative Neoplasms ?,"Key Points + - Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. - There are 6 types of chronic myeloproliferative neoplasms. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myeloproliferative neoplasms. + + + Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In myeloproliferative neoplasms, too many blood stem cells become one or more types of blood cells. The neoplasms usually get worse slowly as the number of extra blood cells increases. + + + There are 6 types of chronic myeloproliferative neoplasms. + The type of myeloproliferative neoplasm is based on whether too many red blood cells, white blood cells, or platelets are being made. Sometimes the body will make too many of more than one type of blood cell, but usually one type of blood cell is affected more than the others are. Chronic myeloproliferative neoplasms include the following 6 types: - Chronic myelogenous leukemia. - Polycythemia vera. - Primary myelofibrosis (also called chronic idiopathic myelofibrosis). - Essential thrombocythemia. - Chronic neutrophilic leukemia. - Chronic eosinophilic leukemia. These types are described below. Chronic myeloproliferative neoplasms sometimes become acute leukemia, in which too many abnormal white blood cells are made.",CancerGov,Chronic Myeloproliferative Neoplasms +How to diagnose Chronic Myeloproliferative Neoplasms ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myeloproliferative neoplasms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for the following: - Whether there are red blood cells shaped like teardrops. - The number and kinds of white blood cells. - The number of platelets. - Whether there are blast cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. - Cytogenetic analysis : A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Certain diseases or disorders may be diagnosed or ruled out based on the chromosomal changes. - Gene mutation test: A laboratory test done on a bone marrow or blood sample to check for mutations in JAK2 , MPL , or CALR genes. A JAK2 gene mutation is often found in patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis. MPL or CALR gene mutations are found in patients with essential thrombocythemia or primary myelofibrosis.",CancerGov,Chronic Myeloproliferative Neoplasms +What are the stages of Chronic Myeloproliferative Neoplasms ?,"Key Points + - There is no standard staging system for chronic myeloproliferative neoplasms. + + + There is no standard staging system for chronic myeloproliferative neoplasms. + Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myeloproliferative neoplasms. Treatment is based on the type of myeloproliferative neoplasm the patient has. It is important to know the type in order to plan treatment.",CancerGov,Chronic Myeloproliferative Neoplasms +What are the treatments for Chronic Myeloproliferative Neoplasms ?,"Key Points + - There are different types of treatment for patients with chronic myeloproliferative neoplasms. - Eleven types of standard treatment are used: - Watchful waiting - Phlebotomy - Platelet apheresis - Transfusion therapy - Chemotherapy - Radiation therapy - Other drug therapy - Surgery - Biologic therapy - Targeted therapy - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with chronic myeloproliferative neoplasms. + Different types of treatments are available for patients with chronic myeloproliferative neoplasms. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Eleven types of standard treatment are used: + Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Phlebotomy Phlebotomy is a procedure in which blood is taken from a vein. A sample of blood may be taken for tests such as a CBC or blood chemistry. Sometimes phlebotomy is used as a treatment and blood is taken from the body to remove extra red blood cells. Phlebotomy is used in this way to treat some chronic myeloproliferative neoplasms. Platelet apheresis Platelet apheresis is a treatment that uses a special machine to remove platelets from the blood. Blood is taken from the patient and put through a blood cell separator where the platelets are removed. The rest of the blood is then returned to the patients bloodstream. Transfusion therapy Transfusion therapy (blood transfusion) is a method of giving red blood cells, white blood cells, or platelets to replace blood cells destroyed by disease or cancer treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Myeloproliferative Neoplasms for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat chronic myeloproliferative neoplasms, and is usually directed at the spleen. Other drug therapy Prednisone and danazol are drugs that may be used to treat anemia in patients with primary myelofibrosis. Anagrelide therapy is used to reduce the risk of blood clots in patients who have too many platelets in their blood. Low-dose aspirin may also be used to reduce the risk of blood clots. Thalidomide, lenalidomide, and pomalidomide are drugs that prevent blood vessels from growing into areas of tumor cells. See Drugs Approved for Myeloproliferative Neoplasms for more information. Surgery Splenectomy (surgery to remove the spleen) may be done if the spleen is enlarged. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer or other diseases. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against disease. This type of treatment is also called biotherapy or immunotherapy. Interferon alfa and pegylated interferon alpha are biologic agents commonly used to treat some chronic myeloproliferative neoplasms. Erythropoietic growth factors are also biologic agents. They are used to stimulate the bone marrow to make red blood cells. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Tyrosine kinase inhibitors are targeted therapy drugs that block signals needed for tumors to grow. Ruxolitinib is a tyrosine kinase inhibitor used to treat certain types of myelofibrosis. See Drugs Approved for Myeloproliferative Neoplasms for more information. Other types of targeted therapies are being studied in clinical trials. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Chronic Myeloproliferative Neoplasms + + + Chronic Myelogenous Leukemia + See the PDQ summary about Chronic Myelogenous Leukemia Treatment for information. + + + Polycythemia Vera + The purpose of treatment for polycythemia vera is to reduce the number of extra blood cells. Treatment of polycythemia vera may include the following: - Phlebotomy. - Chemotherapy with or without phlebotomy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Low-dose aspirin. Check the list of NCI-supported cancer clinical trials that are now accepting patients with polycythemia vera. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Primary Myelofibrosis + Treatment of primary myelofibrosis in patients without signs or symptoms is usually watchful waiting. Patients with primary myelofibrosis may have signs or symptoms of anemia. Anemia is usually treated with transfusion of red blood cells to relieve symptoms and improve quality of life. In addition, anemia may be treated with: - Erythropoietic growth factors. - Prednisone. - Danazol. - Thalidomide, lenalidomide, or pomalidomide, with or without prednisone. Treatment of primary myelofibrosis in patients with other signs or symptoms may include the following: - Targeted therapy with ruxolitinib. - Chemotherapy. - Donor stem cell transplant. - Thalidomide, lenalidomide, or pomalidomide. - Splenectomy. - Radiation therapy to the spleen, lymph nodes, or other areas outside the bone marrow where blood cells are forming. - Biologic therapy using interferon alfa or erythropoietic growth factors. - A clinical trial of other targeted therapy drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with primary myelofibrosis. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Essential Thrombocythemia + Treatment of essential thrombocythemia in patients younger than 60 years who have no signs or symptoms and an acceptable platelet count is usually watchful waiting. Treatment of other patients may include the following: - Chemotherapy. - Anagrelide therapy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Platelet apheresis. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with essential thrombocythemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Chronic Neutrophilic Leukemia + Treatment of chronic neutrophilic leukemia may include the following: - Donor bone marrow transplant. - Chemotherapy. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic neutrophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Chronic Eosinophilic Leukemia + Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Chronic Myeloproliferative Neoplasms +What is (are) Parathyroid Cancer ?,"Key Points + - Parathyroid cancer is a rare disease in which malignant (cancer) cells form in the tissues of a parathyroid gland. - Having certain inherited disorders can increase the risk of developing parathyroid cancer. - Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. - Tests that examine the neck and blood are used to detect (find) and diagnose parathyroid cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Parathyroid cancer is a rare disease in which malignant (cancer) cells form in the tissues of a parathyroid gland. + The parathyroid glands are four pea-sized organs found in the neck near the thyroid gland. The parathyroid glands make parathyroid hormone (PTH or parathormone). PTH helps the body use and store calcium to keep the calcium in the blood at normal levels. A parathyroid gland may become overactive and make too much PTH, a condition called hyperparathyroidism. Hyperparathyroidism can occur when a benign tumor (noncancer), called an adenoma, forms on one of the parathyroid glands, and causes it to grow and become overactive. Sometimes hyperparathyroidism can be caused by parathyroid cancer, but this is very rare. The extra PTH causes: - The calcium stored in the bones to move into the blood. - The intestines to absorb more calcium from the food we eat. This condition is called hypercalcemia (too much calcium in the blood). The hypercalcemia caused by hyperparathyroidism is more serious and life-threatening than parathyroid cancer itself and treating hypercalcemia is as important as treating the cancer.",CancerGov,Parathyroid Cancer +Who is at risk for Parathyroid Cancer? ?,Having certain inherited disorders can increase the risk of developing parathyroid cancer. Anything that increases the chance of getting a disease is called a risk factor. Risk factors for parathyroid cancer include the following rare disorders that are inherited (passed down from parent to child): - Familial isolated hyperparathyroidism (FIHP). - Multiple endocrine neoplasia type 1 (MEN1) syndrome. Treatment with radiation therapy may increase the risk of developing a parathyroid adenoma.,CancerGov,Parathyroid Cancer +What are the symptoms of Parathyroid Cancer ?,"Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. Most parathyroid cancer signs and symptoms are caused by the hypercalcemia that develops. Signs and symptoms of hypercalcemia include the following: - Weakness. - Feeling very tired. - Nausea and vomiting. - Loss of appetite. - Weight loss for no known reason. - Being much more thirsty than usual. - Urinating much more than usual. - Constipation. - Trouble thinking clearly. Other signs and symptoms of parathyroid cancer include the following: - Pain in the abdomen, side, or back that doesn't go away. - Pain in the bones. - A broken bone. - A lump in the neck. - Change in voice such as hoarseness. - Trouble swallowing. Other conditions may cause the same signs and symptoms as parathyroid cancer. Check with your doctor if you have any of these problems.",CancerGov,Parathyroid Cancer +How to diagnose Parathyroid Cancer ?,"Tests that examine the neck and blood are used to detect (find) and diagnose parathyroid cancer. Once blood tests are done and hyperparathyroidism is diagnosed, imaging tests may be done to help find which of the parathyroid glands is overactive. Sometimes the parathyroid glands are hard to find and imaging tests are done to find exactly where they are. Parathyroid cancer may be hard to diagnose because the cells of a benign parathyroid adenoma and a malignant parathyroid cancer look alike. The patient's symptoms, blood levels of calcium and parathyroid hormone, and characteristics of the tumor are also used to make a diagnosis. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. To diagnose parathyroid cancer, the sample of blood is checked for its calcium level. - Parathyroid hormone test: A procedure in which a blood sample is checked to measure the amount of parathyroid hormone released into the blood by the parathyroid glands. A higher than normal amount of parathyroid hormone can be a sign of disease. - Sestamibi scan : A type of radionuclide scan used to find an overactive parathyroid gland. A very small amount of a radioactive substance called technetium 99 is injected into a vein and travels through the bloodstream to the parathyroid gland. The radioactive substance will collect in the overactive gland and show up brightly on a special camera that detects radioactivity. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - SPECT scan (single photon emission computed tomography scan): A procedure that uses a special camera linked to a computer to make a 3-dimensional (3-D) picture. A very small amount of a radioactive substance is injected into a vein. As the substance travels through the blood, the camera rotates around the neck and takes pictures. Blood flow and metabolism are higher than normal in areas where cancer cells are growing. These areas will show up brighter in the picture. This procedure may be done just before or after a CT scan. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. - Angiogram : A procedure to look at blood vessels and the flow of blood. A contrast dye is injected into the blood vessel. As the contrast dye moves through the blood vessel, x-rays are taken to see if there are any blockages. - Venous sampling : A procedure in which a sample of blood is taken from specific veins and checked to measure the amounts of certain substances released into the blood by nearby organs and tissues. If imaging tests do not show which parathyroid gland is overactive, blood samples may be taken from veins near each parathyroid gland to find which one is making too much PTH.",CancerGov,Parathyroid Cancer +What is the outlook for Parathyroid Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the calcium level in the blood can be controlled. - The stage of the cancer. - Whether the tumor and the capsule around the tumor can be completely removed by surgery. - The patient's general health.,CancerGov,Parathyroid Cancer +What are the stages of Parathyroid Cancer ?,"Key Points + - After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no standard staging process for parathyroid cancer. + + + After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. + The process used to find out if cancer has spread to other parts of the body is called staging. The following imaging tests may be used to determine if cancer has spread to other parts of the body such as the lungs, liver, bone, heart, pancreas, or lymph nodes: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if parathyroid cancer spreads to the lung, the cancer cells in the lung are actually parathyroid cancer cells. The disease is metastatic parathyroid cancer, not lung cancer. + + + There is no standard staging process for parathyroid cancer. + Parathyroid cancer is described as either localized or metastatic: - Localized parathyroid cancer is found in a parathyroid gland and may have spread to nearby tissues. - Metastatic parathyroid cancer has spread to other parts of the body, such as the lungs, liver, bone, sac around the heart, pancreas, or lymph nodes.",CancerGov,Parathyroid Cancer +What are the treatments for Parathyroid Cancer ?,"Key Points + - There are different types of treatment for patients with parathyroid cancer. - Treatment includes control of hypercalcemia (too much calcium in the blood) in patients who have an overactive parathyroid gland. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Supportive care - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with parathyroid cancer. + Different types of treatment are available for patients with parathyroid cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Treatment includes control of hypercalcemia (too much calcium in the blood) in patients who have an overactive parathyroid gland. + In order to reduce the amount of parathyroid hormone that is being made and control the level of calcium in the blood, as much of the tumor as possible is removed in surgery. For patients who cannot have surgery, medication may be used. + + + Four types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is the most common treatment for parathyroid cancer that is in the parathyroid glands or has spread to other parts of the body. Because parathyroid cancer grows very slowly, cancer that has spread to other parts of the body may be removed by surgery in order to cure the patient or control the effects of the disease for a long time. Before surgery, treatment is given to control hypercalcemia. The following surgical procedures may be used: - En bloc resection: Surgery to remove the entire parathyroid gland and the capsule around it. Sometimes lymph nodes, half of the thyroid gland on the same side of the body as the cancer, and muscles, tissues, and a nerve in the neck are also removed. - Tumor debulking: A surgical procedure in which as much of the tumor as possible is removed. Some tumors cannot be completely removed. - Metastasectomy: Surgery to remove any cancer that has spread to distant organs such as the lung. Surgery for parathyroid cancer sometimes damages nerves of the vocal cords. There are treatments to help with speech problems caused by this nerve damage. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat parathyroid cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care for hypercalcemia caused by parathyroid cancer may include the following: - Intravenous (IV) fluids. - Drugs that increase how much urine the body makes. - Drugs that stop the body from absorbing calcium from the food we eat. - Drugs that stop the parathyroid gland from making parathyroid hormone. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Parathyroid cancer often recurs. Patients should have regular check-ups for the rest of their lives, to find and treat recurrences early. + + + Treatment Options for Parathyroid Cancer + + + Localized Parathyroid Cancer + Treatment of localized parathyroid cancer may include the following: - Surgery (en bloc resection). - Surgery followed by radiation therapy. - Radiation therapy. - Supportive care to treat hypercalcemia (too much calcium in the blood). Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized parathyroid cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Metastatic Parathyroid Cancer + Treatment of metastatic parathyroid cancer may include the following: - Surgery (metastasectomy) to remove cancer from the places where it has spread. - Surgery followed by radiation therapy. - Radiation therapy. - Chemotherapy. - Supportive care to treat hypercalcemia (too much calcium in the blood). Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic parathyroid cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Parathyroid Cancer + Treatment of recurrent parathyroid cancer may include the following: - Surgery (metastasectomy) to remove cancer from the places where it has recurred. - Surgery (tumor debulking). - Surgery followed by radiation therapy. - Radiation therapy. - Chemotherapy. - Supportive care to treat hypercalcemia (too much calcium in the blood). Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent parathyroid cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Parathyroid Cancer +what research (or clinical trials) is being done for Parathyroid Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Parathyroid Cancer +What is (are) Lip and Oral Cavity Cancer ?,"Key Points + - Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth. - Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. - Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. - Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth. + The oral cavity includes the following: - The front two thirds of the tongue. - The gingiva (gums). - The buccal mucosa (the lining of the inside of the cheeks). - The floor (bottom) of the mouth under the tongue. - The hard palate (the roof of the mouth). - The retromolar trigone (the small area behind the wisdom teeth). Most lip and oral cavity cancers start in squamous cells, the thin, flat cells that line the lips and oral cavity. These are called squamous cell carcinomas. Cancer cells may spread into deeper tissue as the cancer grows. Squamous cell carcinoma usually develops in areas of leukoplakia (white patches of cells that do not rub off). Lip and oral cavity cancer is a type of head and neck cancer.",CancerGov,Lip and Oral Cavity Cancer +Who is at risk for Lip and Oral Cavity Cancer? ?,Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for lip and oral cavity cancer include the following: - Using tobacco products. - Heavy alcohol use. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Being male.,CancerGov,Lip and Oral Cavity Cancer +What are the symptoms of Lip and Oral Cavity Cancer ?,"Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following: - A sore on the lip or in the mouth that does not heal. - A lump or thickening on the lips or gums or in the mouth. - A white or red patch on the gums, tongue, or lining of the mouth. - Bleeding, pain, or numbness in the lip or mouth. - Change in voice. - Loose teeth or dentures that no longer fit well. - Trouble chewing or swallowing or moving the tongue or jaw. - Swelling of jaw. - Sore throat or feeling that something is caught in the throat. Lip and oral cavity cancer may not have any symptoms and is sometimes found during a regular dental exam.",CancerGov,Lip and Oral Cavity Cancer +How to diagnose Lip and Oral Cavity Cancer ?,"Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer. The following tests and procedures may be used: - Physical exam of the lips and oral cavity: An exam to check the lips and oral cavity for abnormal areas. The medical doctor or dentist will feel the entire inside of the mouth with a gloved finger and examine the oral cavity with a small long-handled mirror and lights. This will include checking the insides of the cheeks and lips; the gums; the roof and floor of the mouth; and the top, bottom, and sides of the tongue. The neck will be felt for swollen lymph nodes. A history of the patients health habits and past illnesses and medical and dental treatments will also be taken. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist. If leukoplakia is found, cells taken from the patches are also checked under the microscope for signs of cancer. - Exfoliative cytology : A procedure to collect cells from the lip or oral cavity. A piece of cotton, a brush, or a small wooden stick is used to gently scrape cells from the lips, tongue, mouth, or throat. The cells are viewed under a microscope to find out if they are abnormal. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Barium swallow : A series of x-rays of the esophagus and stomach. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and x-rays are taken. This procedure is also called an upper GI series. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner.",CancerGov,Lip and Oral Cavity Cancer +What is the outlook for Lip and Oral Cavity Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer. - Where the tumor is in the lip or oral cavity. - Whether the cancer has spread to blood vessels. For patients who smoke, the chance of recovery is better if they stop smoking before beginning radiation therapy. Treatment options depend on the following: - The stage of the cancer. - The size of the tumor and where it is in the lip or oral cavity. - Whether the patient's appearance and ability to talk and eat can stay the same. - The patient's age and general health. Patients who have had lip and oral cavity cancer have an increased risk of developing a second cancer in the head or neck. Frequent and careful follow-up is important. Clinical trials are studying the use of retinoid drugs to reduce the risk of a second head and neck cancer. Information about ongoing clinical trials is available from the NCI website.",CancerGov,Lip and Oral Cavity Cancer +What are the stages of Lip and Oral Cavity Cancer ?,"Key Points + - After lip and oral cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lip and oral cavity or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for lip and oral cavity cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After lip and oral cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lip and oral cavity or to other parts of the body. + The process used to find out if cancer has spread within the lip and oral cavity or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose lip and oral cavity cancer are also used to stage the disease. (See the General Information section.) + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if lip cancer spreads to the lung, the cancer cells in the lung are actually lip cancer cells. The disease is metastatic lip cancer, not lung cancer. + + + The following stages are used for lip and oral cavity cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the lips and oral cavity. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the tumor is 2 centimeters or smaller. Cancer has not spread to the lymph nodes. Stage II In stage II, the tumor is larger than 2 centimeters but not larger than 4 centimeters, and cancer has not spread to the lymph nodes. Stage III In stage III, the tumor: - may be any size and has spread to one lymph node that is 3 centimeters or smaller, on the same side of the neck as the tumor; or - is larger than 4 centimeters. Stage IV Stage IV is divided into stages IVA, IVB, and IVC. - In stage IVA, the tumor: - has spread through tissue in the lip or oral cavity into nearby tissue and/or bone (jaw, tongue, floor of mouth, maxillary sinus, or skin on the chin or nose); cancer may have spread to one lymph node that is 3 centimeters or smaller, on the same side of the neck as the tumor; or - is any size or has spread through tissue in the lip or oral cavity into nearby tissue and/or bone (jaw, tongue, floor of mouth, maxillary sinus, or skin on the chin or nose), and cancer has spread: - to one lymph node on the same side of the neck as the tumor and the lymph node is larger than 3 centimeters but not larger than 6 centimeters; or - to more than one lymph node on the same side of the neck as the tumor and the lymph nodes are not larger than 6 centimeters; or - to lymph nodes on the opposite side of the neck as the tumor or on both sides of the neck, and the lymph nodes are not larger than 6 centimeters. - In stage IVB, the tumor: - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters; or - has spread further into the muscles or bones in the oral cavity, or to the base of the skull and/or the carotid artery. Cancer may have spread to one or more lymph nodes anywhere in the neck. - In stage IVC, the tumor has spread beyond the lip or oral cavity to distant parts of the body, such as the lungs. The tumor may be any size and may have spread to the lymph nodes.",CancerGov,Lip and Oral Cavity Cancer +What are the treatments for Lip and Oral Cavity Cancer ?,"Key Points + - There are different types of treatment for patients with lip and oral cavity cancer. - Patients with lip and oral cavity cancer should have their treatment planned by a team of doctors who are expert in treating head and neck cancer. - Two types of standard treatment are used: - Surgery - Radiation therapy - New types of treatment are being tested in clinical trials. - Chemotherapy - Hyperfractionated radiation therapy - Hyperthermia therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with lip and oral cavity cancer. + Different types of treatment are available for patients with lip and oral cavity cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Patients with lip and oral cavity cancer should have their treatment planned by a team of doctors who are expert in treating head and neck cancer. + Treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. Because the lips and oral cavity are important for breathing, eating, and talking, patients may need special help adjusting to the side effects of the cancer and its treatment. The medical oncologist may refer the patient to other health professionals with special training in the treatment of patients with head and neck cancer. These include the following: - Head and neck surgeon. - Radiation oncologist. - Dentist. - Speech therapist. - Dietitian. - Psychologist. - Rehabilitation specialist. - Plastic surgeon. + + + Two types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of lip and oral cavity cancer. Surgery may include the following: - Wide local excision: Removal of the cancer and some of the healthy tissue around it. If cancer has spread into bone, surgery may include removal of the involved bone tissue. - Neck dissection: Removal of lymph nodes and other tissues in the neck. This is done when cancer may have spread from the lip and oral cavity. - Plastic surgery: An operation that restores or improves the appearance of parts of the body. Dental implants, a skin graft, or other plastic surgery may be needed to repair parts of the mouth, throat, or neck after removal of large tumors. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat lip and oral cavity cancer. Radiation therapy may work better in patients who have stopped smoking before beginning treatment. It is also important for patients to have a dental exam before radiation therapy begins, so that existing problems can be treated. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hyperfractionated radiation therapy Hyperfractionated radiation therapy is radiation treatment in which the total dose of radiation is divided into small doses and the treatments are given more than once a day. Hyperthermia therapy Hyperthermia therapy is a treatment in which body tissue is heated above normal temperature to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation and certain anticancer drugs. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Lip and Oral Cavity Cancer + Treatment of stage I lip and oral cavity cancer depends on where cancer is found in the lip and oral cavity. Lip If cancer is in the lip, treatment may include the following: - Surgery (wide local excision). - Internal radiation therapy with or without external radiation therapy. Front of the tongue If cancer is in the front of the tongue, treatment may include the following: - Surgery (wide local excision). - Internal radiation therapy with or without external radiation therapy. - Radiation therapy to lymph nodes in the neck. Buccal mucosa If cancer is in the buccal mucosa (the lining of the inside of the cheeks), treatment may include the following: - Surgery (wide local excision) for tumors smaller than 1 centimeter, with or without internal and/or external radiation therapy. - Surgery (wide local excision with skin graft) or radiation therapy for larger tumors. Floor of the mouth If cancer is in the floor (bottom) of the mouth, treatment may include the following: - Surgery (wide local excision) for tumors smaller than centimeter. - Surgery (wide local excision) or radiation therapy for larger tumors. Lower gingiva If cancer is in the lower gingiva (gums), treatment may include the following: - Surgery (wide local excision, which may include removing part of the jawbone, and skin graft). - Radiation therapy with or without surgery. Retromolar trigone If cancer is in the retromolar trigone (the small area behind the wisdom teeth), treatment may include the following: - Surgery (wide local excision, which may include removing part of the jawbone.) - Radiation therapy with or without surgery. Upper gingiva or hard palate If cancer is in the upper gingiva (gums) or the hard palate (the roof of the mouth), treatment is usually surgery (wide local excision) with or without radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I lip and oral cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Lip and Oral Cavity Cancer + Treatment of stage II lip and oral cavity cancer depends on where cancer is found in the lip and oral cavity. Lip If cancer is in the lip, treatment may include the following: - Surgery (wide local excision). - External radiation therapy and/or internal radiation therapy. Front of the tongue If cancer is in the front of the tongue, treatment may include the following: - Radiation therapy and/or surgery (wide local excision). - Internal radiation therapy with surgery (neck dissection). Buccal mucosa If cancer is in the buccal mucosa (the lining of the inside of the cheeks), treatment may include the following: - Radiation therapy for tumors that are 3 centimeters or smaller. - Surgery (wide local excision) and/or radiation therapy for larger tumors. Floor of the mouth If cancer is in the floor (bottom) of the mouth, treatment may include the following: - Surgery (wide local excision). - Radiation therapy. - Surgery (wide local excision) followed by external radiation therapy, with or without internal radiation therapy, for large tumors. Lower gingiva If cancer is in the lower gingiva (gums), treatment may include the following: - Surgery (wide local excision, which may include removing part of the jawbone, and a skin graft). - Radiation therapy alone or after surgery. Retromolar trigone If cancer is in the retromolar trigone (the small area behind the wisdom teeth), treatment may include the following: - Surgery (wide local excision, which includes removing part of the jawbone). - Radiation therapy with or without surgery. Upper gingiva or hard palate If cancer is in the upper gingiva (gums) or the hard palate (the roof of the mouth), treatment may include the following: - Surgery (wide local excision) with or without radiation therapy. - Radiation therapy alone. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II lip and oral cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Lip and Oral Cavity Cancer + Treatment of stage III lip and oral cavity cancer depends on where cancer is found in the lip and oral cavity. Lip If cancer is in the lip, treatment may include the following: - Surgery and external radiation therapy with or without internal radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Front of the tongue If cancer is in the front of the tongue, treatment may include the following: - External radiation therapy with or without internal radiation therapy. - Surgery (wide local excision) followed by radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Buccal mucosa If cancer is in the buccal mucosa (the lining of the inside of the cheeks), treatment may include the following: - Surgery (wide local excision) with or without radiation therapy. - Radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Floor of the mouth If cancer is in the floor (bottom) of the mouth, treatment may include the following: - Surgery (wide local excision, which may include removing part of the jawbone, with or without neck dissection). - External radiation therapy with or without internal radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Lower gingiva If cancer is in the lower gingiva (gums), treatment may include the following: - Surgery (wide local excision) with or without radiation therapy. Radiation may be given before or after surgery. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Retromolar trigone If cancer is in the retromolar trigone (the small area behind the wisdom teeth), treatment may include the following: - Surgery to remove the tumor, lymph nodes, and part of the jawbone, with or without radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Upper gingiva If cancer is in the upper gingiva (gums), treatment may include the following: - Radiation therapy. - Surgery (wide local excision) and radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Hard palate If cancer is in the hard palate (the roof of the mouth), treatment may include the following: - Radiation therapy. - Surgery (wide local excision) with or without radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Lymph nodes For cancer that may have spread to lymph nodes, treatment may include the following: - Radiation therapy and/or surgery (neck dissection). - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of hyperfractionated radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III lip and oral cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Lip and Oral Cavity Cancer + Treatment of stage IV lip and oral cavity cancer depends on where cancer is found in the lip and oral cavity. Lip If cancer is in the lip, treatment may include the following: - Surgery and external radiation therapy with or without internal radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Front of the tongue If cancer is in the front of the tongue, treatment may include the following: - Surgery to remove the tongue and sometimes the larynx (voice box) with or without radiation therapy. - Radiation therapy as palliative therapy to relieve symptoms and improve quality of life. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Buccal mucosa If cancer is in the buccal mucosa (the lining of the inside of the cheeks), treatment may include the following: - Surgery (wide local excision) and/or radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Floor of the mouth If cancer is in the floor (bottom) of the mouth, treatment may include the following: - Surgery before or after radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Lower gingiva If cancer is in the lower gingiva (gums), treatment may include the following: - Surgery and/or radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Retromolar trigone If cancer is in the retromolar trigone (the small area behind the wisdom teeth), treatment may include the following: - Surgery to remove the tumor, lymph nodes, and part of the jawbone, followed by radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Upper gingiva or hard palate If cancer is in the upper gingiva (gums) or hard palate (the roof of the mouth), treatment may include the following: - Surgery with radiation therapy. - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Lymph nodes For cancer that may have spread to lymph nodes, treatment may include the following: - Radiation therapy and/or surgery (neck dissection). - A clinical trial of chemotherapy and radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of hyperfractionated radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV lip and oral cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Lip and Oral Cavity Cancer +what research (or clinical trials) is being done for Lip and Oral Cavity Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hyperfractionated radiation therapy Hyperfractionated radiation therapy is radiation treatment in which the total dose of radiation is divided into small doses and the treatments are given more than once a day. Hyperthermia therapy Hyperthermia therapy is a treatment in which body tissue is heated above normal temperature to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation and certain anticancer drugs. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Lip and Oral Cavity Cancer +What is (are) Prostate Cancer ?,"Key Points + - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the second most common cancer among men in the United States. + + + Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. + The prostate is a gland in the male reproductive system. The prostate is just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of the semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH). BPH is not cancer, but surgery may be needed to correct it. The symptoms of BPH or of other problems in the prostate may be like symptoms of prostate cancer.",CancerGov,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Prostate cancer is most common in older men. In the U.S., about one out of five men will be diagnosed with prostate cancer. Most men diagnosed with prostate cancer do not die of it. See the following PDQ summaries for more information about prostate cancer: - Prostate Cancer Screening - Prostate Cancer Treatment",CancerGov,Prostate Cancer +How to prevent Prostate Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors may increase the risk of prostate cancer: - Age - Family history of prostate cancer - Race - Hormones - Vitamin E - Folic acid - Dairy and calcium - The following protective factors may decrease the risk of prostate cancer: - Folate - Finasteride and Dutasteride - The following have been proven not to affect the risk of prostate cancer, or their effects on prostate cancer risk are not known: - Selenium and vitamin E - Diet - Multivitamins - Lycopene - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent prostate cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors may increase the risk of prostate cancer: + Age Prostate cancer is rare in men younger than 50 years of age. The chance of developing prostate cancer increases as men get older. Family history of prostate cancer A man whose father, brother, or son has had prostate cancer has a higher-than-average risk of prostate cancer. Race Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer. Hormones The prostate needs male hormones to work the way it should. The main male sex hormone is testosterone. Testosterone helps the body develop and maintain male sex characteristics. Testosterone is changed into dihydrotestosterone (DHT) by an enzyme in the body. DHT is important for normal prostate growth but can also cause the prostate to get bigger and may play a part in the development of prostate cancer. Vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) found that vitamin E taken alone increased the risk of prostate cancer. The risk continued even after the men stopped taking vitamin E. Folic acid Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. However, the risk of prostate cancer was lower in men who had enough folate in their diets. Dairy and calcium A diet high in dairy foods and calcium may cause a small increase in the risk of prostate cancer. + + + The following protective factors may decrease the risk of prostate cancer: + Folate Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was lower in men who had enough folate in their diets. However, the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. Finasteride and Dutasteride Finasteride and dutasteride are drugs used to lower the amount of male sex hormones made by the body. These drugs block the enzyme that changes testosterone into dihydrotestosterone (DHT). Higher than normal levels of DHT may play a part in developing prostate cancer. Taking finasteride or dutasteride has been shown to lower the risk for prostate cancer, but it is not known if these drugs lower the risk of death from prostate cancer. The Prostate Cancer Prevention Trial (PCPT) studied whether the drug finasteride can prevent prostate cancer in healthy men 55 years of age and older. This prevention study showed there were fewer prostate cancers in the group of men that took finasteride compared with the group of men that did not. Also, the men who took finasteride who did have prostate cancer had more aggressive tumors. The number of deaths from prostate cancer was the same in both groups. Men who took finasteride reported more side effects compared with the group of men that did not, including erectile dysfunction, loss of desire for sex, and enlarged breasts. The Reduction by Dutasteride of Prostate Cancer Events Trial (REDUCE) studied whether the drug dutasteride can prevent prostate cancer in men aged 50 to 75 years at higher risk for the disease. This prevention study showed there were fewer prostate cancers in the group of men who took dutasteride compared with the group of men that did not. The number of less aggressive prostate cancers was lower, but the number of more aggressive prostate cancers was not. Men who took dutasteride reported more side effects than men who did not, including erectile dysfunction, loss of desire for sex, less semen, and gynecomastia (enlarged breasts). + + + The following have been proven not to affect the risk of prostate cancer, or their effects on prostate cancer risk are not known: + Selenium and vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) studied whether taking vitamin E and selenium (a mineral) will prevent prostate cancer. The selenium and vitamin E were taken separately or together by healthy men 55 years of age and older (50 years of age and older for African-American men). The study showed that taking selenium alone or selenium and vitamin E together did not decrease the risk of prostate cancer. Diet It is not known if decreasing fat or increasing fruits and vegetables in the diet helps decrease the risk of prostate cancer or death from prostate cancer. In the PCPT trial, certain fatty acids increased the risk of high-grade prostate cancer while others decreased the risk of high-grade prostate cancer. Multivitamins Regular use of multivitamins has not been proven to increase the risk of early or localized prostate cancer. However, a large study showed an increased risk of advanced prostate cancer among men who took multivitamins more than seven times a week. Lycopene Some studies have shown that a diet high in lycopene may be linked to a decreased risk of prostate cancer, but other studies have not. It has not been proven that taking lycopene supplements decreases the risk of prostate cancer. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent prostate cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for prostate cancer prevention trials that are accepting patients.",CancerGov,Prostate Cancer +Who is at risk for Prostate Cancer? ?,"Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following risk factors may increase the risk of prostate cancer: + Age Prostate cancer is rare in men younger than 50 years of age. The chance of developing prostate cancer increases as men get older. Family history of prostate cancer A man whose father, brother, or son has had prostate cancer has a higher-than-average risk of prostate cancer. Race Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer. Hormones The prostate needs male hormones to work the way it should. The main male sex hormone is testosterone. Testosterone helps the body develop and maintain male sex characteristics. Testosterone is changed into dihydrotestosterone (DHT) by an enzyme in the body. DHT is important for normal prostate growth but can also cause the prostate to get bigger and may play a part in the development of prostate cancer. Vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) found that vitamin E taken alone increased the risk of prostate cancer. The risk continued even after the men stopped taking vitamin E. Folic acid Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. However, the risk of prostate cancer was lower in men who had enough folate in their diets. Dairy and calcium A diet high in dairy foods and calcium may cause a small increase in the risk of prostate cancer. + + + The following protective factors may decrease the risk of prostate cancer: + Folate Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was lower in men who had enough folate in their diets. However, the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. Finasteride and Dutasteride Finasteride and dutasteride are drugs used to lower the amount of male sex hormones made by the body. These drugs block the enzyme that changes testosterone into dihydrotestosterone (DHT). Higher than normal levels of DHT may play a part in developing prostate cancer. Taking finasteride or dutasteride has been shown to lower the risk for prostate cancer, but it is not known if these drugs lower the risk of death from prostate cancer. The Prostate Cancer Prevention Trial (PCPT) studied whether the drug finasteride can prevent prostate cancer in healthy men 55 years of age and older. This prevention study showed there were fewer prostate cancers in the group of men that took finasteride compared with the group of men that did not. Also, the men who took finasteride who did have prostate cancer had more aggressive tumors. The number of deaths from prostate cancer was the same in both groups. Men who took finasteride reported more side effects compared with the group of men that did not, including erectile dysfunction, loss of desire for sex, and enlarged breasts. The Reduction by Dutasteride of Prostate Cancer Events Trial (REDUCE) studied whether the drug dutasteride can prevent prostate cancer in men aged 50 to 75 years at higher risk for the disease. This prevention study showed there were fewer prostate cancers in the group of men who took dutasteride compared with the group of men that did not. The number of less aggressive prostate cancers was lower, but the number of more aggressive prostate cancers was not. Men who took dutasteride reported more side effects than men who did not, including erectile dysfunction, loss of desire for sex, less semen, and gynecomastia (enlarged breasts). + + + The following have been proven not to affect the risk of prostate cancer, or their effects on prostate cancer risk are not known: + Selenium and vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) studied whether taking vitamin E and selenium (a mineral) will prevent prostate cancer. The selenium and vitamin E were taken separately or together by healthy men 55 years of age and older (50 years of age and older for African-American men). The study showed that taking selenium alone or selenium and vitamin E together did not decrease the risk of prostate cancer. Diet It is not known if decreasing fat or increasing fruits and vegetables in the diet helps decrease the risk of prostate cancer or death from prostate cancer. In the PCPT trial, certain fatty acids increased the risk of high-grade prostate cancer while others decreased the risk of high-grade prostate cancer. Multivitamins Regular use of multivitamins has not been proven to increase the risk of early or localized prostate cancer. However, a large study showed an increased risk of advanced prostate cancer among men who took multivitamins more than seven times a week. Lycopene Some studies have shown that a diet high in lycopene may be linked to a decreased risk of prostate cancer, but other studies have not. It has not been proven that taking lycopene supplements decreases the risk of prostate cancer.",CancerGov,Prostate Cancer +what research (or clinical trials) is being done for Prostate Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent prostate cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for prostate cancer prevention trials that are accepting patients.",CancerGov,Prostate Cancer +What is (are) Childhood Craniopharyngioma ?,"Key Points + - Childhood craniopharyngiomas are benign brain tumors found near the pituitary gland. - There are no known risk factors for childhood craniopharyngioma. - Signs of childhood craniopharyngioma include vision changes and slow growth. - Tests that examine the brain, vision, and hormone levels are used to detect (find) childhood craniopharyngiomas. - Childhood craniopharyngiomas are diagnosed and may be removed in the same surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood craniopharyngiomas are benign brain tumors found near the pituitary gland. + Childhood craniopharyngiomas are rare tumors usually found near the pituitary gland (a pea-sized organ at the bottom of the brain that controls other glands) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). Craniopharyngiomas are usually part solid mass and part fluid -filled cyst. They are benign (not cancer) and do not spread to other parts of the brain or to other parts of the body. However, they may grow and press on nearby parts of the brain or other areas, including the pituitary gland, the optic chiasm, optic nerves, and fluid-filled spaces in the brain. Craniopharyngiomas may affect many functions of the brain. They may affect hormone making, growth, and vision. Benign brain tumors need treatment. This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment for metastatic brain tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain, is not covered in this summary. See the PDQ treatment summary on Childhood Brain and Spinal Cord Tumors Treatment Overview for information about the different types of childhood brain and spinal cord tumors. Brain tumors can occur in both children and adults; however, treatment for children may be different than treatment for adults. (See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information.)",CancerGov,Childhood Craniopharyngioma +Who is at risk for Childhood Craniopharyngioma? ?,There are no known risk factors for childhood craniopharyngioma. Craniopharyngiomas are rare in children younger than 2 years of age and are most often diagnosed in children aged 5 to 14 years. It is not known what causes these tumors.,CancerGov,Childhood Craniopharyngioma +What are the symptoms of Childhood Craniopharyngioma ?,"Signs of childhood craniopharyngioma include vision changes and slow growth. These and other signs and symptoms may be caused by craniopharyngiomas or by other conditions. Check with your childs doctor if your child has any of the following: - Headaches, including morning headache or headache that goes away after vomiting. - Vision changes. - Nausea and vomiting. - Loss of balance or trouble walking. - Increase in thirst or urination. - Unusual sleepiness or change in energy level. - Changes in personality or behavior. - Short stature or slow growth. - Hearing loss. - Weight gain.",CancerGov,Childhood Craniopharyngioma +How to diagnose Childhood Craniopharyngioma ?,"Tests that examine the brain, vision, and hormone levels are used to detect (find) childhood craniopharyngiomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). Any loss of vision may be a sign of a tumor that has damaged or pressed on the parts of the brain that affect eyesight. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) of the brain and spinal cord with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the tumor cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Blood hormone studies: A procedure in which a blood sample is checked to measure the amounts of certain hormones released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. For example, the blood may be checked for unusual levels of thyroid-stimulating hormone (TSH) or adrenocorticotropic hormone (ACTH). TSH and ACTH are made by the pituitary gland in the brain. + Childhood craniopharyngiomas are diagnosed and may be removed in the same surgery. Doctors may think a mass is a craniopharyngioma based on where it is in the brain and how it looks on a CT scan or MRI. In order to be sure, a sample of tissue is needed. One of the following types of biopsy procedures may be used to take the sample of tissue: - Open biopsy: A hollow needle is inserted through a hole in the skull into the brain. - Computer-guided needle biopsy: A hollow needle guided by a computer is inserted through a small hole in the skull into the brain. - Transsphenoidal biopsy: Instruments are inserted through the nose and sphenoid bone (a butterfly-shaped bone at the base of the skull) and into the brain. A pathologist views the tissue under a microscope to look for tumor cells. If tumor cells are found, as much tumor as safely possible may be removed during the same surgery. The following laboratory test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.",CancerGov,Childhood Craniopharyngioma +What is the outlook for Childhood Craniopharyngioma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side effects that may occur months or years after treatment. - Whether the tumor has just been diagnosed or has recurred (come back).,CancerGov,Childhood Craniopharyngioma +What are the stages of Childhood Craniopharyngioma ?,The process used to find out if cancer has spread within the brain or to other parts of the body is called staging. There is no standard system for staging childhood craniopharyngioma. Craniopharyngioma is described as newly diagnosed disease or recurrent disease. The results of the tests and procedures done to diagnose craniopharyngioma are used to help make decisions about treatment.,CancerGov,Childhood Craniopharyngioma +what research (or clinical trials) is being done for Childhood Craniopharyngioma ?,"Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients who have not improved. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database.",CancerGov,Childhood Craniopharyngioma +What are the treatments for Childhood Craniopharyngioma ?,"Key Points + - There are different types of treatment for children with craniopharyngioma. - Children with craniopharyngioma should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some treatments for tumors cause side effects months or years after treatment has ended. - Five types of treatment are used: - Surgery (resection) - Surgery and radiation therapy - Surgery with cyst drainage - Chemotherapy - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with craniopharyngioma. + Different types of treatments are available for children with craniopharyngioma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with tumors. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because tumors in children are rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate treatment is a decision that ideally involves the patient, family, and health care team. + + + Children with craniopharyngioma should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with tumors. The pediatric oncologist works with other pediatric healthcare providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Radiation oncologist. - Neurologist. - Endocrinologist. - Ophthalmologist. - Rehabilitation specialist. - Psychologist. - Social worker. - Nurse specialist. + + + Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Signs or symptoms caused by the tumor may begin before diagnosis and continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. + + + Some treatments for tumors cause side effects months or years after treatment has ended. + Side effects from tumor treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of tumor treatment may include the following: - Physical problems such as seizures. - Behavior problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). The following serious physical problems may occur if the pituitary gland, hypothalamus, optic nerves, or carotid artery are affected during surgery or radiation therapy: - Obesity. - Metabolic syndrome, including fatty liver disease not caused by drinking alcohol. - Vision problems, including blindness. - Blood vessel problems or stroke. - Loss of the ability to make certain hormones. Some late effects may be treated or controlled. Life-long hormone replacement therapy with several medicines may be needed. It is important to talk with your child's doctors about the effects tumor treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Five types of treatment are used: + Surgery (resection) The way the surgery is done depends on the size of the tumor and where it is in the brain. It also depends on whether the tumor has grown into nearby tissue in a finger-like way and expected late effects after surgery. The types of surgery that may be used to remove all of the tumor that can be seen with the eye include the following: - Transsphenoidal surgery: A type of surgery in which the instruments are inserted into part of the brain by going through an incision (cut) made under the upper lip or at the bottom of the nose between the nostrils and then through the sphenoid bone (a butterfly-shaped bone at the base of the skull). - Craniotomy: Surgery to remove the tumor through an opening made in the skull. Sometimes all of the tumor that can be seen is removed in surgery and no further treatment is needed. At other times, it is hard to remove the tumor because it is growing into or pressing on nearby organs. If there is tumor remaining after the surgery, radiation therapy is usually given to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Surgery and radiation therapy Partial resection is used to treat some craniopharyngiomas. It is used to diagnose the tumor, remove fluid from a cyst, and relieve pressure on the optic nerves. If the tumor is near the pituitary gland or hypothalamus, it is not removed. This reduces the number of serious side effects after surgery. Partial resection is followed by radiation therapy. Radiation therapy is a tumor treatment that uses high-energy x-rays or other types of radiation to kill tumor cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the tumor. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the tumor. The way the radiation therapy is given depends on the type of tumor, whether the tumor is newly diagnosed or has come back, and where the tumor formed in the brain. External and internal radiation therapy are used to treat childhood craniopharyngioma. Because radiation therapy to the brain can affect growth and development in young children, ways of giving radiation therapy that have fewer side effects are being used. These include: - Stereotactic radiosurgery: For very small craniopharyngiomas at the base of the brain, stereotactic radiosurgery may be used. Stereotactic radiosurgery is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Intracavitary radiation therapy: Intracavitary radiation therapy is a type of internal radiation therapy that may be used in tumors that are part solid mass and part fluid-filled cyst. Radioactive material is placed inside the tumor. This type of radiation therapy causes less damage to the nearby hypothalamus and optic nerves. - Intensity-modulated proton therapy: A type of radiation therapy that uses streams of protons (tiny particles with a positive charge) to kill tumor cells. A computer is used to target the exact shape and location of the tumor with proton therapy. This type of 3-dimensional radiation therapy may cause less damage to healthy tissue in the brain and other parts of the body. Proton radiation is different from x-ray radiation. Surgery with cyst drainage Surgery may be done to drain tumors that are mostly fluid-filled cysts. This lowers pressure in the brain and relieves symptoms. A catheter (thin tube) is inserted into the cyst and a small container is placed under the skin. The fluid drains into the container and is later removed. Sometimes, after the cyst is drained, a drug is put through the catheter into the cyst. This causes the inside wall of the cyst to scar and stops the cyst from making fluid or increases the amount of the time it takes for the fluid to build up again. Surgery to remove the tumor may be done after the cyst is drained. Chemotherapy Chemotherapy is a treatment that uses anticancer drugs to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach tumor cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid or an organ, the drugs mainly affect tumor cells in those areas (regional chemotherapy). Intracavitary chemotherapy is a type of regional chemotherapy that places drugs directly into a cavity, such as a cyst. It is used for craniopharyngioma that has come back after treatment. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. For craniopharyngioma that has come back after treatment, the biologic therapy drug is placed inside the tumor using a catheter (intracavitary) or in a vein (intravenous). + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients who have not improved. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the disease or decide how to treat it may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed. These tests are sometimes called follow-up tests or check-ups. After treatment, follow-up testing with MRI will be done for several years to check if the tumor has come back. + + + Treatment Options for Childhood Craniopharyngioma + + + Newly Diagnosed Childhood Craniopharyngioma + Treatment of newly diagnosed childhood craniopharyngioma may include the following: - Surgery (resection) with or without radiation therapy. - Partial resection followed by radiation therapy. - Cyst drainage with or without radiation therapy or surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Craniopharyngioma + Craniopharyngioma may recur (come back) no matter how it was treated the first time. Treatment options for recurrent childhood craniopharyngioma depend on the type of treatment that was given when the tumor was first diagnosed and the needs of the child. Treatment may include the following: - Surgery (resection). - External-beam radiation therapy. - Stereotactic radiosurgery. - Intracavitary radiation therapy. - Intracavitary chemotherapy or intracavitary biologic therapy. - Intravenous biologic therapy. - Cyst drainage. - A clinical trial of biologic therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Craniopharyngioma +What is (are) Childhood Ependymoma ?,"Key Points + - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. - There are different types of ependymomas. - The part of the brain that is affected depends on where the ependymoma forms. - The cause of most childhood brain tumors is unknown. - The signs and symptoms of childhood ependymoma are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. - Childhood ependymoma is diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. + The brain controls vital functions such as memory and learning, emotion, and the senses (hearing, sight, smell, taste, and touch). The spinal cord is made up of bundles of nerve fibers that connect the brain with nerves in most parts of the body. Ependymomas form from ependymal cells that line the ventricles and passageways in the brain and the spinal cord. Ependymal cells make cerebrospinal fluid (CSF). This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment of metastatic brain tumors, which are tumors that begin in other parts of the body and spread to the brain, is not discussed in this summary. There are many different types of brain tumors. Brain tumors can occur in both children and adults. However, treatment for children is different than treatment for adults. See the following PDQ summaries for more information: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment + + + There are different types of ependymomas. + The World Health Organization (WHO) groups ependymal tumors into five main subtypes: - Subependymoma (WHO Grade I). - Myxopapillary ependymoma (WHO Grade I). - Ependymoma (WHO Grade II). - RELA fusionpositive ependymoma (WHO Grade II or Grade III with change in the RELA gene). - Anaplastic ependymoma (WHO Grade III). The grade of a tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Low-grade (Grade I) cancer cells look more like normal cells than high-grade cancer cells (Grade II and III). They also tend to grow and spread more slowly than Grade II and III cancer cells. + + + The part of the brain that is affected depends on where the ependymoma forms. + Ependymomas can form anywhere in the fluid -filled ventricles and passageways in the brain and spinal cord. Most ependymomas form in the fourth ventricle and affect the cerebellum and the brain stem. Once an ependymoma forms, areas of the brain that may be affected include: - Cerebrum: The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement. - Cerebellum: The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture. - Brain stem: The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. - Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.",CancerGov,Childhood Ependymoma +What causes Childhood Ependymoma ?,The cause of most childhood brain tumors is unknown.,CancerGov,Childhood Ependymoma +What are the symptoms of Childhood Ependymoma ?,The signs and symptoms of childhood ependymoma are not the same in every child. Signs and symptoms depend on the following: - The child's age. - Where the tumor has formed. Signs and symptoms may be caused by childhood ependymoma or by other conditions. Check with your child's doctor if your child has any of the following: - Frequent headaches. - Seizures. - Nausea and vomiting. - Pain or stiffness in the neck. - Loss of balance or trouble walking. - Weakness in the legs. - Blurry vision. - Back pain. - A change in bowel function. - Trouble urinating. - Confusion or irritability.,CancerGov,Childhood Ependymoma +How to diagnose Childhood Ependymoma ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein and travels through the bloodstream. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. + Childhood ependymoma is diagnosed and removed in surgery. If the diagnostic tests show there may be a brain tumor, a biopsy is done by removing part of the skull and using a needle to remove a sample of the brain tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor will remove as much tumor as safely possible during the same surgery. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between brain stem glioma and other brain tumors. An MRI is often done after the tumor is removed to find out whether any tumor remains.",CancerGov,Childhood Ependymoma +What is the outlook for Childhood Ependymoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - Where the tumor has formed in the central nervous system (CNS). - Whether there are certain changes in the genes or chromosomes. - Whether any cancer cells remain after surgery to remove the tumor. - The type of ependymoma. - The age of the child when the tumor is diagnosed. - Whether the cancer has spread to other parts of the brain or spinal cord. - Whether the tumor has just been diagnosed or has recurred (come back). Prognosis also depends on the type and dose of radiation therapy that is given.,CancerGov,Childhood Ependymoma +what research (or clinical trials) is being done for Childhood Ependymoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Ependymoma +What are the stages of Childhood Ependymoma ?,"Key Points + - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. + + + The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment. + Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood ependymoma. Treatment is based on where the cancer is in the body and the age of the child. + + + The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment. + Some of the tests used to detect childhood ependymoma are repeated after the tumor is removed by surgery. (See the General Information section.) This is to find out how much tumor remains after surgery.",CancerGov,Childhood Ependymoma +What are the treatments for Childhood Ependymoma ?,"Key Points + - There are different types of treatment for children with ependymoma. - Children with ependymoma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Observation - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with ependymoma. + Different types of treatment are available for children with ependymoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with ependymoma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatric neurosurgeon. - Neurologist. - Neuropathologist. - Neuroradiologist. - Pediatrician. - Rehabilitation specialist. - Radiation oncologist. - Medical oncologist. - Endocrinologist. - Psychologist. + + + Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Childhood brain and spinal cord tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + These are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Four types of standard treatment are used: + Surgery If the results of diagnostic tests show there may be a brain tumor, a biopsy is done by removing part of the skull and using a needle to remove a sample of the brain tissue. A pathologist views the tissue under a microscope to check for cancer cells. If cancer cells are found, the doctor will remove as much tumor as safely possible during the same surgery. An MRI is often done after the tumor is removed to find out whether any tumor remains. If tumor remains, a second surgery to remove as much of the remaining tumor as possible may be done. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment to lower the risk that the cancer will come back after surgery is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Proton-beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. - Stereotactic radiosurgery: Stereotactic radiosurgery is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood ependymoma. Children younger than 3 years who receive radiation therapy to the brain have a higher risk of problems with growth and development than older children. 3-D conformal radiation therapy and proton-beam therapy are being studied in children younger than 3 years to see if the effects of radiation on growth and development are lessened. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of cancer being treated. Observation Observation is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. Observation may be used to treat a child with a subependymoma who has no symptoms and whose tumor is found while treating another condition. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Follow-up tests for childhood ependymoma include an MRI (magnetic resonance imaging) of the brain and spinal cord every 3 months for the first 1 or 2 years after treatment. After 2 years, MRIs may be done every 6 months for the next 3 years. + + + Treatment Options for Childhood Ependymoma + + + Newly Diagnosed Childhood Ependymoma + A child with a newly diagnosed ependymoma has not had treatment for the tumor. The child may have had treatment to relieve signs or symptoms caused by the tumor. Subependymoma Treatment of newly diagnosed subependymoma (WHO Grade I) is: - Surgery. - Observation (rarely). Myxopapillary ependymoma Treatment of newly diagnosed myxopapillary ependymoma (WHO Grade I) is: - Surgery with or without radiation therapy. Childhood ependymoma, anaplastic ependymoma, or RELA fusionpositive ependymoma Treatment of newly diagnosed childhood ependymoma (WHO Grade II), anaplastic ependymoma (WHO Grade III), or RELA fusionpositive ependymoma (WHO Grade II or Grade III) is: - Surgery. After surgery, the plan for further treatment depends on the following: - Whether any cancer cells remain after surgery. - Whether the cancer has spread to other parts of the brain or spinal cord. - The age of the child. When the tumor is completely removed and cancer cells have not spread, treatment may include the following: - Radiation therapy. - A clinical trial of radiation therapy followed by chemotherapy. - A clinical trial of observation for patients whose tumor is completely removed or who have no sign of cancer after chemotherapy. When part of the tumor remains after surgery, but cancer cells have not spread, treatment may include the following: - A second surgery to remove as much of the remaining tumor as possible. - Radiation therapy. - Chemotherapy followed by radiation therapy. - A clinical trial of chemotherapy given before and after radiation therapy. When cancer cells have spread within the brain and spinal cord, treatment may include the following: - Radiation therapy to the brain and spinal cord. Treatment for children younger than 3 years of age may include the following: - Chemotherapy. - Radiation therapy. - A clinical trial of 3-dimensional (3-D) conformal radiation therapy or proton-beam radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with newly diagnosed childhood ependymoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Childhood Ependymoma + Treatment of recurrent childhood ependymoma may include the following: - Surgery. - Radiation therapy, which may include stereotactic radiosurgery, intensity-modulated radiation therapy, or proton-beam radiation therapy. - Chemotherapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood ependymoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Ependymoma +What is (are) Childhood Central Nervous System Germ Cell Tumors ?,"Key Points + - Childhood central nervous system (CNS) germ cell tumors form from germ cells. - There are different types of childhood CNS germ cell tumors. - Germinomas - Nongerminomas - The cause of most childhood CNS germ cell tumors is not known. - Signs and symptoms of childhood CNS germ cell tumors include unusual thirst, frequent urination, early puberty, or vision changes. - Imaging studies and tests are used to detect (find) and diagnose childhood CNS germ cell tumors. - A biopsy may be done to be sure of the diagnosis of CNS germ cell tumor. - Certain factors affect prognosis (chance of recovery). + + + Childhood central nervous system (CNS) germ cell tumors form from germ cells. + Germ cells are a type of cell that form as a fetus (unborn baby) develops. These cells later become sperm in the testicles or eggs in the ovaries. Sometimes while the fetus is forming, germ cells travel to other parts of the body and grow into germ cell tumors. Germ cells tumors that form in the brain or spinal cord are called CNS germ cell tumors. The most common places for one or more central nervous system (CNS) germ cell tumors to form is near the pineal gland and in an area of the brain that includes the pituitary gland and the tissue just above it. Sometimes germ cell tumors may form in other areas of the brain. This summary is about germ cell tumors that start in the central nervous system (brain and spinal cord). Germ cell tumors may also form in other parts of the body. See the PDQ summary on Childhood Extracranial Germ Cell Tumors Treatment for information on germ cell tumors that are extracranial (outside the brain). CNS germ cell tumors usually occur in children, but may occur in adults. Treatment for children may be different than treatment for adults. See the following PDQ summaries for information about treatment for adults: - Adult Central Nervous System Tumors Treatment - Extragonadal Germ Cell Tumors Treatment For information about other types of childhood brain and spinal cord tumors, see the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview. + + + There are different types of childhood CNS germ cell tumors. + There are different types of CNS germ cell tumors. The type of CNS germ cell tumor depends on what the cells look like under a microscope. This summary is about the treatment of the following types of CNS germ cell tumors: Germinomas Germinomas are the most common type of CNS germ cell tumor and have a good prognosis. Nongerminomas Some nongerminomas make hormones. CNS teratomas are a type of nongerminoma that does not make hormones. They may have different kinds of tissue in them, such as hair, muscle, and bone. Teratomas are described as mature or immature, based on how normal the cells look under a microscope. Sometimes teratomas are a mix of mature and immature cells. Other types of nongerminomas include the following: - Choriocarcinomas make the hormone beta-human chorionic gonadotropin (-hCG). - Embryonal carcinomas do not make hormones. - Yolk sac tumors make the hormone alpha-fetoprotein (AFP). - Mixed germ cell tumors are made of more than one kind of germ cell.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +What are the stages of Childhood Central Nervous System Germ Cell Tumors ?,"Key Points + - Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. + + + Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord. + Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood central nervous system (CNS) germ cell tumors. The treatment plan depends on the following: - The type of germ cell tumor. - Whether the tumor has spread within the CNS or to other parts of the body. - The results of tests and procedures done to diagnose childhood CNS germ cell tumors. - Whether the tumor is newly diagnosed or has recurred (come back) after treatment.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +What causes Childhood Central Nervous System Germ Cell Tumors ?,The cause of most childhood CNS germ cell tumors is not known.,CancerGov,Childhood Central Nervous System Germ Cell Tumors +What are the symptoms of Childhood Central Nervous System Germ Cell Tumors ?,"Signs and symptoms of childhood CNS germ cell tumors include unusual thirst, frequent urination, early puberty, or vision changes. Signs and symptoms depend on the following: - Where the tumor has formed. - The size of the tumor. - Whether the tumor makes hormones. Signs and symptoms may be caused by childhood CNS germ cell tumors or by other conditions. Check with your childs doctor if your child has any of the following: - Being very thirsty. - Making large amounts of urine that is clear or almost clear. - Frequent urination. - Bed wetting or getting up at night to urinate. - Trouble moving the eyes or trouble seeing clearly. - Loss of appetite. - Weight loss for no known reason. - Early or late puberty. - Short stature (being shorter than normal). - Headaches. - Nausea and vomiting. - Feeling very tired. - Having problems with school work.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +How to diagnose Childhood Central Nervous System Germ Cell Tumors ?,"Imaging studies and tests are used to detect (find) and diagnose childhood CNS germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - Tumor marker tests : A procedure in which a sample of blood or cerebrospinal fluid (CSF) is checked to measure the amounts of certain substances released into the blood and CSF by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following tumor markers are used to diagnose some CNS germ cell tumors: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher- or lower-than-normal) amount of a substance can be a sign of disease. - Blood hormone studies: A procedure in which a blood sample is checked to measure the amounts of certain hormones released into the blood by organs and tissues in the body. An unusual (higher- or lower-than-normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. The blood will be checked for the levels of hormones made by the pituitary gland and other glands. + A biopsy may be done to be sure of the diagnosis of CNS germ cell tumor. If doctors think your child may have a CNS germ cell tumor, a biopsy may be done. For brain tumors, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. Sometimes, a needle guided by a computer is used to remove the tissue sample. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The piece of skull is usually put back in place after the procedure. Sometimes the diagnosis can be made based on the results of imaging and tumor marker tests and a biopsy is not needed. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of brain tumors.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +What is the outlook for Childhood Central Nervous System Germ Cell Tumors ?,Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - The type of germ cell tumor. - The type and level of any tumor markers. - Where the tumor is in the brain or in the spinal cord. - Whether the cancer has spread within the brain and spinal cord or to other parts of the body. - Whether the tumor is newly diagnosed or has recurred (come back) after treatment.,CancerGov,Childhood Central Nervous System Germ Cell Tumors +what research (or clinical trials) is being done for Childhood Central Nervous System Germ Cell Tumors ?,"Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood central nervous system germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Current Clinical Trials section that follows for links to current treatment clinical trials. These have been retrieved from the NCI's listing of clinical trials.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +What are the treatments for Childhood Central Nervous System Germ Cell Tumors ?,"Key Points + - There are different types of treatment for patients with childhood central nervous system (CNS) germ cell tumors. - Children with childhood CNS germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Childhood CNS germ cell tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Four types of treatment are used: - Radiation therapy - Chemotherapy - Surgery - High-dose chemotherapy with stem cell rescue - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with childhood central nervous system (CNS) germ cell tumors. + Different types of treatment are available for children with childhood central nervous system (CNS) germ cell tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with childhood CNS germ cell tumors should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist and/or a radiation oncologist,. A pediatric oncologist is a doctor who specializes in treating children with cancer. A radiation oncologist specializes in treating cancer with radiation therapy. These doctors work with other pediatric health care providers who are experts in treating children with childhood CNS germ cell tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric neurosurgeon. - Neurologist. - Endocrinologist. - Ophthalmologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. + + + Childhood CNS germ cell tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Childhood CNS germ cell tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before the cancer is diagnosed. Signs or symptoms caused by treatment may begin during or right after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Some cancer treatments cause side effects that continue or appear months or years after cancer treatment has ended. These are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the possible late effects caused by some treatments. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Four types of treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of radiation therapy may include the following: - Stereotactic radiosurgery: Stereotactic radiosurgery is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood CNS germ cell tumors. Radiation therapy to the brain can affect growth and development in young children. Certain ways of giving radiation therapy can lessen the damage to healthy brain tissue. For children younger than 3 years, chemotherapy may be given instead. This can delay or reduce the need for radiation therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of cancer being treated. Surgery Whether surgery to remove the tumor can be done depends on where the tumor is in the brain. Surgery to remove the tumor may cause severe, long-term side effects. Surgery may be done to remove teratomas and may be used for germ cell tumors that come back. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Current Clinical Trials section that follows for links to current treatment clinical trials. These have been retrieved from the NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Children whose cancer affected their pituitary gland when the cancer was diagnosed will usually need to have their blood hormone levels checked. If the blood hormone level is low, replacement hormone medicine is given. Children who had a high tumor marker level (alpha-fetoprotein or beta-human chorionic gonadotropin) when the cancer was diagnosed usually need to have their blood tumor marker level checked. If the tumor marker level increases after initial treatment, the tumor may have recurred. + + + Treatment Options for Childhood CNS Germ Cell Tumors + + + Newly Diagnosed CNS Germinomas + Treatment of newly diagnosed central nervous system (CNS) germinomas may include the following: - Radiation therapy to the tumor and ventricles (fluid -filled spaces) of the brain. A higher dose of radiation is given to the tumor than the area around the tumor. - Chemotherapy followed by radiation therapy, for younger children. - A clinical trial of chemotherapy followed by radiation therapy given in lower doses depending on how the tumor responds to treatment. + + + Newly Diagnosed CNS Teratomas + Treatment of newly diagnosed mature and immature central nervous system (CNS) teratomas may include the following: - Surgery to remove as much of the tumor as possible. Radiation therapy and/or chemotherapy may be given if any tumor remains after surgery. + + + Newly Diagnosed CNS Nongerminomas + It is not clear what treatment is best for newly diagnosed central nervous system (CNS) nongerminomas is. Treatment of choriocarcinoma, embryonal carcinoma, yolk sac tumor, or mixed germ cell tumor may include the following: - Chemotherapy followed by radiation therapy. If a mass remains after chemotherapy, surgery may be needed to check if the mass is a mature teratoma, fibrosis, or a growing tumor. - If the mass is a mature teratoma or fibrosis, radiation therapy is given. - If the mass is a growing tumor, other treatments may be given. - Surgery to remove as much of the mass as possible and check for tumor cells, if tumor marker levels are normal and the mass continues to grow (called growing teratoma syndrome). - A clinical trial of chemotherapy followed by radiation therapy given in lower doses depending on how the tumor responds to treatment. + + + Recurrent Childhood CNS Germ Cell Tumors + Treatment of recurrent childhood central nervous system (CNS) germ cell tumors may include the following: - Chemotherapy followed by radiation therapy. - High-dose chemotherapy with stem cell rescue using the patient's stem cells. - A clinical trial of a new treatment.",CancerGov,Childhood Central Nervous System Germ Cell Tumors +What is (are) Skin Cancer ?,"Key Points + - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - Nonmelanoma skin cancer is the most common cancer in the United States. - Being exposed to ultraviolet radiation may increase the risk of skin cancer. + + + Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. + The skin is the body's largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (top or outer layer) and the dermis (lower or inner layer). Skin cancer begins in the epidermis, which is made up of three kinds of cells: - Squamous cells: Thin, flat cells that form the top layer of the epidermis. Cancer that forms in squamous cells is called squamous cell carcinoma. - Basal cells: Round cells under the squamous cells. Cancer that forms in basal cells is called basal cell carcinoma. - Melanocytes: Found in the lower part of the epidermis, these cells make melanin, the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment and cause the skin to tan, or darken. Cancer that forms in melanocytes is called melanoma. + + + Nonmelanoma skin cancer is the most common cancer in the United States. + Basal cell carcinoma and squamous cell carcinoma are also called nonmelanoma skin cancer and are the most common forms of skin cancer. Most basal cell and squamous cell skin cancers can be cured. Melanoma is more likely to spread to nearby tissues and other parts of the body and can be harder to cure. Melanoma is easier to cure if the tumor is found before it spreads to the dermis (inner layer of skin). Melanoma is less likely to cause death when it is found and treated early. In the United States, the number of cases of nonmelanoma skin cancer seems to have increased in recent years. The number of cases of melanoma has increased over the last 30 years. Part of the reason for these increases may be that people are more aware of skin cancer. They are more likely to have skin exams and biopsies and to be diagnosed with skin cancer. Over the past 20 years, the number of deaths from melanoma has decreased slightly among white men and women younger than 50 years. During that time, the number of deaths from melanoma has increased slightly among white men older than 50 years and stayed about the same among white women older than 50 years. The number of cases of childhood melanoma diagnosed in the United States is low, but increasing over time. The number of childhood deaths from melanoma has stayed about the same. See the following PDQ summaries for more information about skin cancer: - Skin Cancer Prevention - Skin Cancer Treatment - Melanoma Treatment - Genetics of Skin Cancer",CancerGov,Skin Cancer +Who is at risk for Skin Cancer? ?,"Being exposed to ultraviolet radiation may increase the risk of skin cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Being exposed to ultraviolet (UV) radiation and having skin that is sensitive to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Nonmelanoma skin cancer risk factors include: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Melanoma skin cancer risk factors include: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white.",CancerGov,Skin Cancer +What is (are) Ovarian Germ Cell Tumors ?,"Key Points + - Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary. - Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. - Tests that examine the ovaries, pelvic area, blood, and ovarian tissue are used to detect (find) and diagnose ovarian germ cell tumor. - Certain factors affect prognosis (chance of recovery and treatment options). + + + Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary. + Germ cell tumors begin in the reproductive cells (egg or sperm) of the body. Ovarian germ cell tumors usually occur in teenage girls or young women and most often affect just one ovary. The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones. Ovarian germ cell tumor is a general name that is used to describe several different types of cancer. The most common ovarian germ cell tumor is called dysgerminoma. See the following PDQ summaries for information about other types of ovarian tumors: - Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment - Ovarian Low Malignant Potential Tumors Treatment",CancerGov,Ovarian Germ Cell Tumors +What are the symptoms of Ovarian Germ Cell Tumors ?,"Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. Ovarian germ cell tumors can be hard to diagnose (find) early. Often there are no symptoms in the early stages, but tumors may be found during regular gynecologic exams (checkups). Check with your doctor if you have either of the following: - Swollen abdomen without weight gain in other parts of the body. - Bleeding from the vagina after menopause (when you are no longer having menstrual periods).",CancerGov,Ovarian Germ Cell Tumors +How to diagnose Ovarian Germ Cell Tumors ?,"Tests that examine the ovaries, pelvic area, blood, and ovarian tissue are used to detect (find) and diagnose ovarian germ cell tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. The size of the incision depends on the reason the laparotomy is being done. Sometimes organs are removed or tissue samples are taken and checked under a microscope for signs of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Serum tumor marker test : A procedure in which a sample of blood is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. An increased level of alpha fetoprotein (AFP) or human chorionic gonadotropin (HCG) in the blood may be a sign of ovarian germ cell tumor.",CancerGov,Ovarian Germ Cell Tumors +What is the outlook for Ovarian Germ Cell Tumors ?,"Certain factors affect prognosis (chance of recovery and treatment options). The prognosis (chance of recovery) and treatment options depend on the following: - The type of cancer. - The size of the tumor. - The stage of cancer (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). - The way the cancer cells look under a microscope. - The patients general health. Ovarian germ cell tumors are usually cured if found and treated early.",CancerGov,Ovarian Germ Cell Tumors +What are the stages of Ovarian Germ Cell Tumors ?,"Key Points + - After ovarian germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread within the ovary or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for ovarian germ cell tumors: - Stage I - Stage II - Stage III - Stage IV + + + After ovarian germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread within the ovary or to other parts of the body. + The process used to find out whether cancer has spread within the ovary or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. Unless a doctor is sure the cancer has spread from the ovaries to other parts of the body, an operation called a laparotomy is done to see if the cancer has spread. The doctor must cut into the abdomen and carefully look at all the organs to see if they have cancer in them. The doctor will cut out small pieces of tissue so they can be checked under a microscope for signs of cancer. The doctor may also wash the abdominal cavity with fluid, which is also checked under a microscope to see if it has cancer cells in it. Usually the doctor will remove the cancer and other organs that have cancer in them during the laparotomy. It is important to know the stage in order to plan treatment. Many of the tests used to diagnose ovarian germ cell tumor are also used for staging. The following tests and procedures may also be used for staging: - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if an ovarian germ cell tumor spreads to the liver, the tumor cells in the liver are actually cancerous ovarian germ cells. The disease is metastatic ovarian germ cell tumor, not liver cancer. + + + The following stages are used for ovarian germ cell tumors: + Stage I In stage I, cancer is found in one or both ovaries. Stage I is divided into stage IA, stage IB, and stage IC. - Stage IA: Cancer is found inside a single ovary. - Stage IB: Cancer is found inside both ovaries. - Stage IC: Cancer is found inside one or both ovaries and one of the following is true: - cancer is also found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the ovary has ruptured (broken open); or - cancer cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage II In stage II, cancer is found in one or both ovaries and has spread into other areas of the pelvis. Stage II is divided into stage IIA, stage IIB, and stage IIC. - Stage IIA: Cancer has spread to the uterus and/or fallopian tubes (the long slender tubes through which eggs pass from the ovaries to the uterus). - Stage IIB: Cancer has spread to other tissue within the pelvis. - Stage IIC: Cancer is found inside one or both ovaries and has spread to the uterus and/or fallopian tubes, or to other tissue within the pelvis. Also, one of the following is true: - cancer is found on the outside surface of one or both ovaries; or - the capsule (outer covering) of the ovary has ruptured (broken open); or - cancer cells are found in the fluid of the peritoneal cavity (the body cavity that contains most of the organs in the abdomen) or in washings of the peritoneum (tissue lining the peritoneal cavity). Stage III In stage III, cancer is found in one or both ovaries and has spread outside the pelvis to other parts of the abdomen and/or nearby lymph nodes. Stage III is divided into stage IIIA, stage IIIB, and stage IIIC. - Stage IIIA: The tumor is found in the pelvis only, but cancer cells that can be seen only with a microscope have spread to the surface of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen), the small intestines, or the tissue that connects the small intestines to the wall of the abdomen. - Stage IIIB: Cancer has spread to the peritoneum and the cancer in the peritoneum is 2 centimeters or smaller. - Stage IIIC: Cancer has spread to the peritoneum and the cancer in the peritoneum is larger than 2 centimeters and/or cancer has spread to lymph nodes in the abdomen. Cancer that has spread to the surface of the liver is also considered stage III ovarian cancer. Stage IV In stage IV, cancer has spread beyond the abdomen to other parts of the body, such as the lungs or tissue inside the liver. Cancer cells in the fluid around the lungs is also considered stage IV ovarian cancer.",CancerGov,Ovarian Germ Cell Tumors +What are the treatments for Ovarian Germ Cell Tumors ?,"Key Points + - There are different types of treatment for patients with ovarian germ cell tumors. - Four types of standard treatment are used: - Surgery - Observation - Chemotherapy - Radiation therapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with bone marrow transplant - New treatment options - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with ovarian germ cell tumors. + Different types of treatment are available for patients with ovarian germ cell tumor. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery is the most common treatment of ovarian germ cell tumor. A doctor may take out the cancer using one of the following types of surgery. - Unilateral salpingo-oophorectomy: A surgical procedure to remove one ovary and one fallopian tube. - Total hysterectomy: A surgical procedure to remove the uterus, including the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. - Bilateral salpingo-oophorectomy: A surgical procedure to remove both ovaries and both fallopian tubes. - Tumor debulking: A surgical procedure in which as much of the tumor as possible is removed. Some tumors cannot be completely removed. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be offered chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. After chemotherapy for an ovarian germ cell tumor, a second-look laparotomy may be done. This is similar to the laparotomy that is done to find out the stage of the cancer. Second-look laparotomy is a surgical procedure to find out if tumor cells are left after primary treatment. During this procedure, the doctor will take samples of lymph nodes and other tissues in the abdomen to see if any cancer is left. This procedure is not done for dysgerminomas. Observation Observation is closely watching a patients condition without giving any treatment unless signs or symptoms appear or change. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Ovarian, Fallopian Tube, or Primary Peritoneal Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat ovarian germ cell tumors. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with bone marrow transplant High-dose chemotherapy with bone marrow transplant is a method of giving very high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. New treatment options Combination chemotherapy (the use of more than one anticancer drug) is being tested in clinical trials. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options By Stage + + + Stage I Ovarian Germ Cell Tumors + Treatment depends on whether the tumor is a dysgerminoma or another type of ovarian germ cell tumor. Treatment of dysgerminoma may include the following: - Unilateral salpingo-oophorectomy with or without lymphangiography or CT scan. - Unilateral salpingo-oophorectomy followed by observation. - Unilateral salpingo-oophorectomy followed by radiation therapy. - Unilateral salpingo-oophorectomy followed by chemotherapy. Treatment of other ovarian germ cell tumors may be either: - unilateral salpingo-oophorectomy followed by careful observation; or - unilateral salpingo-oophorectomy, sometimes followed by combination chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I ovarian germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Ovarian Germ Cell Tumors + Treatment depends on whether the tumor is a dysgerminoma or another type of ovarian germ cell tumor. Treatment of dysgerminoma may be either: - total abdominal hysterectomy and bilateral salpingo-oophorectomy followed by radiation therapy or combination chemotherapy; or - unilateral salpingo-oophorectomy followed by chemotherapy. Treatment of other ovarian germ cell tumors may include the following: - Unilateral salpingo-oophorectomy followed by combination chemotherapy. - Second-look laparotomy (surgery done after primary treatment to see if tumor cells remain). - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II ovarian germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Ovarian Germ Cell Tumors + Treatment depends on whether the tumor is a dysgerminoma or another type of ovarian germ cell tumor. Treatment of dysgerminoma may include the following: - Total abdominal hysterectomy and bilateral salpingo-oophorectomy, with removal of as much of the cancer in the pelvis and abdomen as possible. - Unilateral salpingo-oophorectomy followed by chemotherapy. Treatment of other ovarian germ cell tumors may include the following: - Total abdominal hysterectomy and bilateral salpingo-oophorectomy, with removal of as much of the cancer in the pelvis and abdomen as possible. Chemotherapy will be given before and/or after surgery. - Unilateral salpingo-oophorectomy followed by chemotherapy. - Second-look laparotomy (surgery done after primary treatment to see if tumor cells remain). - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III ovarian germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Ovarian Germ Cell Tumors + Treatment depends on whether the tumor is a dysgerminoma or another type of ovarian germ cell tumor. Treatment of dysgerminoma may include the following: - Total abdominal hysterectomy and bilateral salpingo-oophorectomy followed by chemotherapy, with removal of as much of the cancer in the pelvis and abdomen as possible. - Unilateral salpingo-oophorectomy followed by chemotherapy. Treatment of other ovarian germ cell tumors may include the following: - Total abdominal hysterectomy and bilateral salpingo-oophorectomy, with removal of as much of the cancer in the pelvis and abdomen as possible. Chemotherapy will be given before and/or after surgery. - Unilateral salpingo-oophorectomy followed by chemotherapy. - Second-look laparotomy (surgery done after primary treatment to see if tumor cells remain). - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV ovarian germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Ovarian Germ Cell Tumors +what research (or clinical trials) is being done for Ovarian Germ Cell Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with bone marrow transplant High-dose chemotherapy with bone marrow transplant is a method of giving very high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. New treatment options Combination chemotherapy (the use of more than one anticancer drug) is being tested in clinical trials. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Ovarian Germ Cell Tumors +What is (are) Neuroblastoma ?,"Key Points + - Neuroblastoma is a disease in which malignant (cancer) cells form in neuroblasts (immature nerve tissue) in the adrenal gland, neck, chest, or spinal cord. - Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. - Signs and symptoms of neuroblastoma include bone pain and a lump in the abdomen, neck, or chest. - Tests that examine many different body tissues and fluids are used to detect (find) and diagnose neuroblastoma. - A biopsy is done to diagnose neuroblastoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Neuroblastoma is a disease in which malignant (cancer) cells form in neuroblasts (immature nerve tissue) in the adrenal gland, neck, chest, or spinal cord. + Neuroblastoma often begins in the nerve tissue of the adrenal glands. There are two adrenal glands, one on top of each kidney in the back of the upper abdomen. The adrenal glands make important hormones that help control heart rate, blood pressure, blood sugar, and the way the body reacts to stress. Neuroblastoma may also begin in nerve tissue in the neck, chest, abdomen or pelvis. Neuroblastoma most often begins in infancy and may be diagnosed in the first month of life. It is found when the tumor begins to grow and cause signs or symptoms. Sometimes it forms before birth and is found during a fetal ultrasound. By the time neuroblastoma is diagnosed, the cancer has usually metastasized (spread). Neuroblastoma spreads most often to the lymph nodes, bones, bone marrow, and liver. In infants, it also spreads to the skin.",CancerGov,Neuroblastoma +Is Neuroblastoma inherited ?,"Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. Gene mutations that increase the risk of neuroblastoma are sometimes inherited (passed from the parent to the child). In children with a gene mutation, neuroblastoma usually occurs at a younger age and more than one tumor may form in the adrenal glands.",CancerGov,Neuroblastoma +What are the symptoms of Neuroblastoma ?,"Signs and symptoms of neuroblastoma include bone pain and a lump in the abdomen, neck, or chest.The most common signs and symptoms of neuroblastoma are caused by the tumor pressing on nearby tissues as it grows or by cancer spreading to the bone. These and other signs and symptoms may be caused by neuroblastoma or by other conditions. Check with your childs doctor if your child has any of the following: - Lump in the abdomen, neck, or chest. - Bulging eyes. - Dark circles around the eyes (""black eyes""). - Bone pain. - Swollen stomach and trouble breathing (in infants). - Painless, bluish lumps under the skin (in infants). - Weakness or paralysis (loss of ability to move a body part). Less common signs and symptoms of neuroblastoma include the following: - Fever. - Shortness of breath. - Feeling tired. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - High blood pressure. - Severe watery diarrhea. - Horner syndrome (droopy eyelid, smaller pupil, and less sweating on one side of the face). - Jerky muscle movements. - Uncontrolled eye movements.",CancerGov,Neuroblastoma +How to diagnose Neuroblastoma ?,"Tests that examine many different body tissues and fluids are used to detect (find) and diagnose neuroblastoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Urine catecholamine studies: A procedure in which a urine sample is checked to measure the amount of certain substances, vanillylmandelic acid (VMA) and homovanillic acid (HVA), that are made when catecholamines break down and are released into the urine. A higher than normal amount of VMA or HVA can be a sign of neuroblastoma. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - X-ray : An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - mIBG (metaiodobenzylguanidine) scan : A procedure used to find neuroendocrine tumors, such as neuroblastoma. A very small amount of a substance called radioactive mIBG is injected into a vein and travels through the bloodstream. Neuroendocrine tumor cells take up the radioactive mIBG and are detected by a scanner. Scans may be taken over 1-3 days. An iodine solution may be given before or during the test to keep the thyroid gland from absorbing too much of the mIBG. This test is also used to find out how well the tumor is responding to treatment. mIBG is used in high doses to treat neuroblastoma. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. An ultrasound exam is not done if a CT/MRI has been done.",CancerGov,Neuroblastoma +What is the outlook for Neuroblastoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Age of the child at the time of diagnosis. - The child's risk group. - Whether there are certain changes in the genes. - Where in the body the tumor started. - Tumor histology (the shape, function, and structure of the tumor cells). - Whether there is cancer in the lymph nodes on the same side of the body as the primary cancer or whether there is cancer in the lymph nodes on the opposite side of the body. - How the tumor responds to treatment. - How much time passed between diagnosis and when the cancer recurred (for recurrent cancer). Prognosis and treatment options for neuroblastoma are also affected by tumor biology, which includes: - The patterns of the tumor cells. - How different the tumor cells are from normal cells. - How fast the tumor cells are growing. - Whether the tumor shows MYCN amplification. - Whether the tumor has changes in the ALK gene. The tumor biology is said to be favorable or unfavorable, depending on these factors. A favorable tumor biology means there is a better chance of recovery. In some children up to 6 months old, neuroblastoma may disappear without treatment. This is called spontaneous regression. The child is closely watched for signs or symptoms of neuroblastoma. If signs or symptoms occur, treatment may be needed.",CancerGov,Neuroblastoma +What are the stages of Neuroblastoma ?,"Key Points + - After neuroblastoma has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for neuroblastoma: - Stage 1 - Stage 2 - Stage 3 - Stage 4 - Treatment of neuroblastoma is based on risk groups. + + + After neuroblastoma has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. + The process used to find out the extent or spread of cancer is called staging. The information gathered from the staging process helps determine the stage of the disease. For neuroblastoma, the stage of disease affects whether the cancer is low risk, intermediate risk, or high risk. It also affects the treatment plan. The results of some tests and procedures used to diagnose neuroblastoma may be used for staging. See the General Information section for a description of these tests and procedures. The following tests and procedures also may be used to determine the stage: - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid from a lymph node using a thin needle. - X-ray of the bone: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if neuroblastoma spreads to the liver, the cancer cells in the liver are actually neuroblastoma cells. The disease is metastatic neuroblastoma, not liver cancer. + + + The following stages are used for neuroblastoma: + Stage 1 In stage 1, the tumor is in only one area and all of the tumor that can be seen is completely removed during surgery. Stage 2 Stage 2 is divided into stages 2A and 2B. - Stage 2A: The tumor is in only one area and all of the tumor that can be seen cannot be completely removed during surgery. - Stage 2B: The tumor is in only one area and all of the tumor that can be seen may be completely removed during surgery. Cancer cells are found in the lymph nodes near the tumor. Stage 3 In stage 3, one of the following is true: - the tumor cannot be completely removed during surgery and has spread from one side of the body to the other side and may also have spread to nearby lymph nodes; or - the tumor is in only one area, on one side of the body, but has spread to lymph nodes on the other side of the body; or - the tumor is in the middle of the body and has spread to tissues or lymph nodes on both sides of the body, and the tumor cannot be removed by surgery. Stage 4 Stage 4 is divided into stages 4 and 4S. - In stage 4, the tumor has spread to distant lymph nodes or other parts of the body. - In stage 4S: - the child is younger than 12 months; and - the cancer has spread to the skin, liver, and/or bone marrow; and - the tumor is in only one area and all of the tumor that can be seen may be completely removed during surgery; and/or - cancer cells may be found in the lymph nodes near the tumor. + + + Treatment of neuroblastoma is based on risk groups. + For many types of cancer, stages are used to plan treatment. For neuroblastoma, treatment depends on risk groups. The stage of neuroblastoma is one factor used to determine risk group. Other factors are the age of the child, tumor histology, and tumor biology. There are three risk groups: low risk, intermediate risk, and high risk. - Low-risk and intermediate-risk neuroblastoma have a good chance of being cured. - High-risk neuroblastoma may be hard to cure.",CancerGov,Neuroblastoma +What are the treatments for Neuroblastoma ?,"Key Points + - There are different types of treatment for patients with neuroblastoma. - Children with neuroblastoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer, especially neuroblastoma. - Children who are treated for neuroblastoma may have late effects, including an increased risk of second cancers. - Seven types of standard treatment are used: - Observation - Surgery - Radiation therapy - Iodine 131-mIBG therapy - Chemotherapy - High-dose chemotherapy and radiation therapy with stem cell rescue - Targeted therapy - New types of treatment are being tested in clinical trials. - Immunotherapy - Other drug therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with neuroblastoma. + Different types of treatment are available for patients with neuroblastoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with neuroblastoma should have their treatment planned by a team of doctors who are experts in treating childhood cancer, especially neuroblastoma. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with neuroblastoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatric surgeon. - Pediatric radiation oncologist.. - Endocrinologist. - Neurologist. - Pediatric neuropathologist.. - Neuroradiologist. - Pediatrician. - Pediatric nurse specialist. - Social worker. - Child life professional. - Psychologist. + + + Children who are treated for neuroblastoma may have late effects, including an increased risk of second cancers. + Some cancer treatments cause side effects that continue or appear years after cancer treatment has ended. These are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important that parents of children who are treated for neuroblastoma talk with their doctors about the possible late effects caused by some treatments. See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information. + + + Seven types of standard treatment are used: + Observation Observation is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change. Surgery Surgery is used to treat neuroblastoma unless it has spread to other parts of the body. Depending on where the tumor is, as much of the tumor as is safely possible will be removed. If the tumor cannot be removed, a biopsy may be done instead. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated and the child's risk group. External radiation therapy is used to treat neuroblastoma. Iodine 131-mIBG therapy Iodine 131-mIBG therapy is a treatment with radioactive iodine. The radioactive iodine is given through an intravenous (IV) line and enters the bloodstream which carries radiation directly to tumor cells. Radioactive iodine collects in neuroblastoma cells and kills them with the radiation that is given off. Iodine 131-mIBG therapy is sometimes used to treat high-risk neuroblastoma that comes back after initial treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of cancer being treated and the child's risk group. The use of two or more anticancer drugs is called combination chemotherapy. See Drugs Approved for Neuroblastoma for more information. High-dose chemotherapy and radiation therapy with stem cell rescue High-dose chemotherapy and radiation therapy with stem cell rescue is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by cancer treatment for high-risk neuroblastoma. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After chemotherapy and radiation therapy are completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Maintenance therapy is given after high-dose chemotherapy and radiation therapy with stem cell rescue to kill any cancer cells that may regrow and cause the disease to come back. Maintenance therapy is given for 6 months and includes the following treatments: - Isotretinoin: A vitamin -like drug that slows the cancer's ability to make more cancer cells and changes how these cells look and act. This drug is taken by mouth. - Dinutuximab: A type of monoclonal antibody therapy that uses an antibody made in the laboratory from a single type of immune system cell. Dinutuximab identifies and attaches to a substance, called GD2, on the surface of neuroblastoma cells. Once dinutuximab attaches to the GD2, a signal is sent to the immune system that a foreign substance has been found and needs to be killed. Then the body's immune system kills the neuroblastoma cell. Dinutuximab is given by infusion. It is a type of targeted therapy. - Granulocyte-macrophage colony-stimulating factor (GM-CSF): A cytokine that helps make more immune system cells, especially granulocytes and macrophages (white blood cells), which can attack and kill cancer cells. - Interleukin-2 (IL-2): A type of immunotherapy that boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. See Drugs Approved for Neuroblastoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack cancer cells with less harm to normal cells. There are different types of targeted therapy: - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. Crizotinib is used to treat neuroblastoma that has come back after treatment. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied to treat neuroblastoma that has come back after treatment. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or biological therapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat neuroblastoma that has come back after treatment. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Neuroblastoma + + + Low-Risk Neuroblastoma + Treatment of low-risk neuroblastoma may include the following: - Surgery followed by observation. - Chemotherapy with or without surgery, for children with symptoms, children whose tumor has continued to grow and cannot be removed by surgery, or children with unfavorable tumor biology. - Observation alone for infants younger than 6 months who have small adrenal tumors. - Observation alone for infants who do not have signs or symptoms of neuroblastoma. - Radiation therapy to treat tumors that are causing serious problems and do not respond quickly to chemotherapy or surgery. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. + + + Intermediate-Risk Neuroblastoma + Treatment of intermediate-risk neuroblastoma may include the following: - Chemotherapy for children with symptoms or to shrink a tumor that cannot be removed by surgery. Surgery may be done after chemotherapy. - Surgery alone for infants. - Observation alone for certain infants. - Radiation therapy to treat tumors that are causing serious problems and do not respond quickly to chemotherapy or surgery. - Radiation therapy for tumors that do not respond to other treatment. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. + + + High-Risk Neuroblastoma + Treatment of high-risk neuroblastoma may include the following: - A regimen of combination chemotherapy, surgery, stem cell rescue, radiation therapy, and monoclonal antibody therapy (dinutuximab) with interleukin-2 (IL-2), granulocyte-macrophage colony-stimulating factor (GM-CSF), and isotretinoin. + + + Stage 4S Neuroblastoma + There is no standard treatment for stage 4S neuroblastoma but treatment options include the following: - Observation with supportive care for certain children who have favorable tumor biology and do not have signs or symptoms. - Chemotherapy, for children who have signs or symptoms of neuroblastoma or unfavorable tumor biology, or for very young infants. - A clinical trial of treatment based on the tumor's response to treatment and tumor biology. + + + Recurrent Neuroblastoma + Patients First Treated for Low-Risk Neuroblastoma Treatment for recurrent neuroblastoma that is found only in the area where the cancer first formed may include the following: - Surgery followed by observation or chemotherapy. - Chemotherapy that may be followed by surgery. Treatment for recurrent neuroblastoma that has spread to other parts of the body may include the following: - Observation. - Chemotherapy. - Surgery followed by chemotherapy. - Treatment as for newly diagnosed high-risk neuroblastoma for children older than 1 year. Patients First Treated for Intermediate-Risk Neuroblastoma Treatment for recurrent neuroblastoma that is found only in the area where the cancer first formed may include the following: - Surgery that may be followed by chemotherapy. - Treatment as for newly diagnosed high-risk neuroblastoma for neuroblastoma that has spread to other parts of the body. Recurrent neuroblastoma that has spread to other parts of the body is treated the same way as newly diagnosed high-risk neuroblastoma. Patients First Treated for High-Risk Neuroblastoma Treatment for recurrent neuroblastoma may include the following: - Combination chemotherapy. - Iodine 131-mIBG therapy to relieve symptoms and improve quality of life. It may be given alone or in combination with other therapy, or before stem cell rescue. - A second course of high-dose chemotherapy and stem cell rescue. - Tyrosine kinase inhibitor therapy (crizotinib) for patients with changes in the ALK gene. Because there is no standard treatment for recurrent neuroblastoma in patients first treated for high-risk neuroblastoma, patients may want to consider a clinical trial. For information about clinical trials, please see the NCI website. Patients with Recurrent CNS Neuroblastoma Treatment for neuroblastoma that recurs (comes back) in the central nervous system (CNS; brain and spinal cord) may include the following: - Surgery to remove the tumor in the CNS followed by radiation therapy. - A clinical trial of a new therapy. Treatments Being Studied for Progressive/Recurrent Neuroblastoma Some of the treatments being studied in clinical trials for neuroblastoma that recurs (comes back) or progresses (grows, spreads, or does not respond to treatment) include the following: - Combination chemotherapy and monoclonal antibody therapy (dinutuximab). - Lenalidomide and monoclonal antibody therapy (dinutuximab) with or without isotretinoin. - Iodine 131-mIBG given alone or with other anticancer drugs. - Immunotherapy (vaccine therapy). - Tyrosine kinase inhibitor (crizotinib) and combination chemotherapy. - Targeted therapy with an antibody-drug conjugate (lorvotuzumab mertansine).",CancerGov,Neuroblastoma +what research (or clinical trials) is being done for Neuroblastoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or biological therapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat neuroblastoma that has come back after treatment. Other drug therapy Lenalidomide is a type of angiogenesis inhibitor. It prevents the growth of new blood vessels that are needed by a tumor to grow. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Neuroblastoma +What is (are) Childhood Hodgkin Lymphoma ?,"Key Points + - Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two types of childhood Hodgkin lymphoma. - Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. - Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. + Childhood Hodgkin lymphoma is a type of cancer that develops in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. There are two general types of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma often occurs in adolescents 15 to 19 years of age. The treatment for children and adolescents is different than treatment for adults. (See the PDQ summary on Adult Hodgkin Lymphoma Treatment for more information.) + + + There are two types of childhood Hodgkin lymphoma. + The two types of childhood Hodgkin lymphoma are: - Classical Hodgkin lymphoma. - Nodular lymphocyte-predominant Hodgkin lymphoma. Classical Hodgkin lymphoma is divided into four subtypes, based on how the cancer cells look under a microscope: - Lymphocyte-rich classical Hodgkin lymphoma. - Nodular sclerosis Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte-depleted Hodgkin lymphoma.",CancerGov,Childhood Hodgkin Lymphoma +Who is at risk for Childhood Hodgkin Lymphoma? ?,"Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for childhood Hodgkin lymphoma include the following: - Being infected with the Epstein-Barr virus. - Being infected with the human immunodeficiency virus (HIV). - Having certain diseases of the immune system. - Having a personal history of mononucleosis (""mono""). - Having a parent or sibling with a personal history of Hodgkin lymphoma. Being exposed to common infections in early childhood may decrease the risk of Hodgkin lymphoma in children because of the effect it has on the immune system.",CancerGov,Childhood Hodgkin Lymphoma +What are the symptoms of Childhood Hodgkin Lymphoma ?,"Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by childhood Hodgkin lymphoma or by other conditions. Check with your child's doctor if your child has any of the following: - Painless, swollen lymph nodes near the collarbone or in the neck, chest, underarm, or groin. - Fever for no known reason. - Weight loss for no known reason. - Night sweats. - Fatigue. - Anorexia. - Itchy skin. - Pain in the lymph nodes after drinking alcohol. Fever, weight loss, and night sweats are called B symptoms.",CancerGov,Childhood Hodgkin Lymphoma +How to diagnose Childhood Hodgkin Lymphoma ?,"Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the neck, chest, abdomen, or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Sedimentation rate : A procedure in which a sample of blood is drawn and checked for the rate at which the red blood cells settle to the bottom of the test tube. The sedimentation rate is a measure of how much inflammation is in the body. A higher than normal sedimentation rate may be a sign of lymphoma. Also called erythrocyte sedimentation rate, sed rate, or ESR. - Lymph node biopsy : The removal of all or part of a lymph node. The lymph node may be removed during an image-guided CT scan or a thoracoscopy, mediastinoscopy, or laparoscopy. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle. A pathologist views the tissue under a microscope to look for cancer cells, especially Reed-Sternberg cells. Reed-Sternberg cells are common in classical Hodgkin lymphoma. The following test may be done on tissue that was removed: - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose the specific type of lymphoma by comparing the cancer cells to normal cells of the immune system.",CancerGov,Childhood Hodgkin Lymphoma +What is the outlook for Childhood Hodgkin Lymphoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The size of the tumor. - Whether there are B symptoms at diagnosis. - The type of Hodgkin lymphoma. - Certain features of the cancer cells. - Whether there are too many white blood cells or too few red blood cells at the time of diagnosis. - How well the tumor responds to initial treatment with chemotherapy. - Whether the cancer is newly diagnosed or has recurred (come back). The treatment options also depend on: - The child's age and gender. - The risk of long-term side effects. Most children and adolescents with newly diagnosed Hodgkin lymphoma can be cured.,CancerGov,Childhood Hodgkin Lymphoma +What are the stages of Childhood Hodgkin Lymphoma ?,"Key Points + - After childhood Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of childhood Hodgkin lymphoma may include A, B, E, and S. - The following stages are used for childhood Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV - Untreated Hodgkin lymphoma is divided into risk groups. + + + After childhood Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. + The process used to find out if cancer has spread within the lymph system or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. Treatment is based on the stage and other factors that affect prognosis. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the neck, chest, abdomen, or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the abdomen and pelvis may be done. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for abnormal cells. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Stages of childhood Hodgkin lymphoma may include A, B, E, and S. + Childhood Hodgkin lymphoma may be described as follows: - A: The patient does not have B symptoms (fever, weight loss, or night sweats). - B: The patient has B symptoms. - E: Cancer is found in an organ or tissue that is not part of the lymph system but which may be next to an area of the lymph system affected by the cancer. - S: Cancer is found in the spleen. + + + The following stages are used for childhood Hodgkin lymphoma: + Stage I Stage I is divided into stage I and stage IE. - Stage I: Cancer is found in one of the following places in the lymph system: - One or more lymph nodes in one lymph node group. - Waldeyer's ring. - Thymus. - Spleen. - Stage IE: Cancer is found outside the lymph system in one organ or area. Stage II Stage II is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm and outside the lymph nodes in a nearby organ or area. Stage III Stage III is divided into stage III, stage IIIE, stage IIIS, and stage IIIE,S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE,S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV, the cancer: - is found outside the lymph nodes throughout one or more organs, and may be in lymph nodes near those organs; or - is found outside the lymph nodes in one organ and has spread to areas far away from that organ; or - is found in the lung, liver, bone marrow, or cerebrospinal fluid (CSF). The cancer has not spread to the lung, liver, bone marrow, or CSF from nearby areas. + + + Untreated Hodgkin lymphoma is divided into risk groups. + Untreated childhood Hodgkin lymphoma is divided into risk groups based on the stage, size of the tumor, and whether the patient has B symptoms (fever, weight loss, or night sweats). The risk group is used to plan treatment. - Low-risk childhood Hodgkin lymphoma. - Intermediate-risk childhood Hodgkin lymphoma. - High-risk childhood Hodgkin lymphoma.",CancerGov,Childhood Hodgkin Lymphoma +what research (or clinical trials) is being done for Childhood Hodgkin Lymphoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Proton beam radiation therapy Proton-beam therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged particles of matter) to make radiation. This type of radiation therapy may help lessen the damage to healthy tissue near the tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Hodgkin Lymphoma +What are the treatments for Childhood Hodgkin Lymphoma ?,"Key Points + - There are different types of treatment for children with Hodgkin lymphoma. - Children with Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. - Children and adolescents may have treatment-related side effects that appear months or years after treatment for Hodgkin lymphoma. - Five types of standard treatment are used: - Chemotherapy - Radiation therapy - Targeted therapy - Surgery - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Proton beam radiation therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with Hodgkin lymphoma. + Different types of treatment are available for children with Hodgkin lymphoma. Some treatments are standard and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with Hodgkin lymphoma should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with Hodgkin lymphoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Medical oncologist /hematologist. - Pediatric surgeon. - Radiation oncologist. - Endocrinologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. - Child-life specialist. The treatment of Hodgkin lymphoma in adolescents and young adults may be different than the treatment for children. Some adolescents and young adults are treated with an adult treatment regimen. + + + Children and adolescents may have treatment-related side effects that appear months or years after treatment for Hodgkin lymphoma. + Some cancer treatments cause side effects that continue or appear months or years after cancer treatment has ended. These are called late effects. Because late effects affect health and development, regular follow-up exams are important. Late effects of cancer treatment may include: - Physical problems that affect the following: - Development of sex and reproductive organs. - Fertility (ability to have children). - Bone and muscle growth and development. - Thyroid, heart, or lung function. - Teeth, gums, and salivary gland function. - Spleen function (increased risk of infection). - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). For female survivors of Hodgkin lymphoma, there is an increased risk of breast cancer. This risk depends on the amount of radiation therapy they received to the breast during treatment and the chemotherapy regimen used. The risk of breast cancer is decreased if these female survivors also received radiation therapy to the ovaries. It is suggested that female survivors who received radiation therapy to the breast have a mammogram once a year starting 8 years after treatment or at age 25 years, whichever is later. Female survivors of childhood Hodgkin lymphoma who have breast cancer have an increased risk of dying from the disease compared to patients with no history of Hodgkin lymphoma who have breast cancer. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the possible late effects caused by some treatments. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Five types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the risk group. For example, children with low-risk Hodgkin lymphoma receive fewer cycles of treatment, fewer anticancer drugs, and lower doses of anticancer drugs than children with high-risk lymphoma. See Drugs Approved for Hodgkin Lymphoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of external radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Radiation therapy may be given, based on the childs risk group and chemotherapy regimen. External radiation therapy is used to treat childhood Hodgkin lymphoma. The radiation is given only to the lymph nodes or other areas with cancer. Internal radiation therapy is not used to treat Hodgkin lymphoma. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy and proteasome inhibitor therapy are being used in the treatment of childhood Hodgkin lymphoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. In children, rituximab may be used to treat refractory or recurrent Hodgkin lymphoma. Brentuximab, nivolumab, pembrolizumab, and atezolizumab are monoclonal antibodies being studied to treat children. Proteasome inhibitor therapy is a type of targeted therapy that blocks the action of proteasomes (proteins that remove other proteins the body no longer needs) in cancer cells and may prevent the growth of tumors. Bortezomib is a proteasome inhibitor used to treat refractory or recurrent childhood Hodgkin lymphoma. Surgery Surgery may be done to remove as much of the tumor as possible for localized nodular lymphocyte -predominant childhood Hodgkin lymphoma. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. See Drugs Approved for Hodgkin Lymphoma for more information. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Proton beam radiation therapy Proton-beam therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged particles of matter) to make radiation. This type of radiation therapy may help lessen the damage to healthy tissue near the tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. For patients who receive chemotherapy alone, a PET scan may be done 3 weeks or more after treatment ends. For patients who receive radiation therapy last, a PET scan should not be done until 8 to 12 weeks after treatment. + + + Treatment Options for Children and Adolescents with Hodgkin Lymphoma + + + Low-Risk Classical Childhood Hodgkin Lymphoma + Treatment of low-risk classical childhood Hodgkin lymphoma may include the following: - Combination chemotherapy. - Radiation therapy may also be given to the areas with cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I childhood Hodgkin lymphoma and stage II childhood Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Intermediate-Risk Classical Childhood Hodgkin Lymphoma + Treatment of intermediate-risk classical childhood Hodgkin lymphoma may include the following: - Combination chemotherapy. - Radiation therapy may also be given to the areas with cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I childhood Hodgkin lymphoma, stage II childhood Hodgkin lymphoma, stage III childhood Hodgkin lymphoma and stage IV childhood Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + High-Risk Classical Childhood Hodgkin Lymphoma + Treatment of high-risk classical childhood Hodgkin lymphoma may include the following: - Higher dose combination chemotherapy. - Radiation therapy may also be given to the areas with cancer. - A clinical trial of targeted therapy and combination chemotherapy. Radiation therapy may also be given to the areas with cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III childhood Hodgkin lymphoma and stage IV childhood Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Nodular Lymphocyte-Predominant Childhood Hodgkin Lymphoma + Treatment of nodular lymphocyte-predominant childhood Hodgkin lymphoma may include the following: - Surgery, if the tumor can be completely removed. - Chemotherapy with or without low-dose external radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood nodular lymphocyte predominant Hodgkin lymphoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Hodgkin Lymphoma +What is (are) Penile Cancer ?,"Key Points + - Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. - Human papillomavirus infection may increase the risk of developing penile cancer. - Signs of penile cancer include sores, discharge, and bleeding. - Tests that examine the penis are used to detect (find) and diagnose penile cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. + The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy tissue with blood vessels that fill with blood to make an erection): - Corpora cavernosa: The two columns of erectile tissue that form most of the penis. - Corpus spongiosum: The single column of erectile tissue that forms a small portion of the penis. The corpus spongiosum surrounds the urethra (the tube through which urine and sperm pass from the body). The erectile tissue is wrapped in connective tissue and covered with skin. The glans (head of the penis) is covered with loose skin called the foreskin.",CancerGov,Penile Cancer +Who is at risk for Penile Cancer? ?,Human papillomavirus infection may increase the risk of developing penile cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for penile cancer include the following: Circumcision may help prevent infection with the human papillomavirus (HPV). A circumcision is an operation in which the doctor removes part or all of the foreskin from the penis. Many boys are circumcised shortly after birth. Men who were not circumcised at birth may have a higher risk of developing penile cancer. Other risk factors for penile cancer include the following: - Being age 60 or older. - Having phimosis (a condition in which the foreskin of the penis cannot be pulled back over the glans). - Having poor personal hygiene. - Having many sexual partners. - Using tobacco products.,CancerGov,Penile Cancer +What are the symptoms of Penile Cancer ?,"Signs of penile cancer include sores, discharge, and bleeding. These and other signs may be caused by penile cancer or by other conditions. Check with your doctor if you have any of the following: - Redness, irritation, or a sore on the penis. - A lump on the penis.",CancerGov,Penile Cancer +How to diagnose Penile Cancer ?,"Tests that examine the penis are used to detect (find) and diagnose penile cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the penis for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal.",CancerGov,Penile Cancer +What is the outlook for Penile Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The location and size of the tumor. - Whether the cancer has just been diagnosed or has recurred (come back).,CancerGov,Penile Cancer +What are the stages of Penile Cancer ?,"Key Points + - After penile cancer has been diagnosed, tests are done to find out if cancer cells have spread within the penis or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for penile cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After penile cancer has been diagnosed, tests are done to find out if cancer cells have spread within the penis or to other parts of the body. + The process used to find out if cancer has spread within the penis or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue sample is removed during one of the following procedures: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - Lymph node dissection : A procedure to remove one or more lymph nodes during surgery. A sample of tissue is checked under a microscope for signs of cancer. This procedure is also called a lymphadenectomy. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if penile cancer spreads to the lung, the cancer cells in the lung are actually penile cancer cells. The disease is metastatic penile cancer, not lung cancer. + + + The following stages are used for penile cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells or growths that look like warts are found on the surface of the skin of the penis. These abnormal cells or growths may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and spread to connective tissue just under the skin of the penis. Cancer has not spread to lymph vessels or blood vessels. The tumor cells look a lot like normal cells under a microscope. Stage II In stage II, cancer has spread: - to connective tissue just under the skin of the penis. Also, cancer has spread to lymph vessels or blood vessels or the tumor cells may look very different from normal cells under a microscope; or - through connective tissue to erectile tissue (spongy tissue that fills with blood to make an erection); or - beyond erectile tissue to the urethra. Stage III Stage III is divided into stage IIIa and stage IIIb. In stage IIIa, cancer has spread to one lymph node in the groin. Cancer has also spread: - to connective tissue just under the skin of the penis. Also, cancer may have spread to lymph vessels or blood vessels or the tumor cells may look very different from normal cells under a microscope; or - through connective tissue to erectile tissue (spongy tissue that fills with blood to make an erection); or - beyond erectile tissue to the urethra. In stage IIIb, cancer has spread to more than one lymph node on one side of the groin or to lymph nodes on both sides of the groin. Cancer has also spread: - to connective tissue just under the skin of the penis. Also, cancer may have spread to lymph vessels or blood vessels or the tumor cells may look very different from normal cells under a microscope; or - through connective tissue to erectile tissue (spongy tissue that fills with blood to make an erection); or - beyond erectile tissue to the urethra. Stage IV In stage IV, cancer has spread: - to tissues near the penis such as the prostate, and may have spread to lymph nodes in the groin or pelvis; or - to one or more lymph nodes in the pelvis, or cancer has spread from the lymph nodes to the tissues around the lymph nodes; or - to distant parts of the body.",CancerGov,Penile Cancer +What are the treatments for Penile Cancer ?,"Key Points + - There are different types of treatment for patients with penile cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Radiosensitizers - Sentinel lymph node biopsy followed by surgery - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with penile cancer. + Different types of treatments are available for patients with penile cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery is the most common treatment for all stages of penile cancer. A doctor may remove the cancer using one of the following operations: - Mohs microsurgery: A procedure in which the tumor is cut from the skin in thin layers. During the surgery, the edges of the tumor and each layer of tumor removed are viewed through a microscope to check for cancer cells. Layers continue to be removed until no more cancer cells are seen. This type of surgery removes as little normal tissue as possible and is often used to remove cancer on the skin. It is also called Mohs surgery. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryotherapy. - Circumcision: Surgery to remove part or all of the foreskin of the penis. - Wide local excision: Surgery to remove only the cancer and some normal tissue around it. - Amputation of the penis: Surgery to remove part or all of the penis. If part of the penis is removed, it is a partial penectomy. If all of the penis is removed, it is a total penectomy. Lymph nodes in the groin may be taken out during surgery. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat penile cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly onto the skin (topical chemotherapy) or into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Topical chemotherapy may be used to treat stage 0 penile cancer. See Drugs Approved for Penile Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Topical biologic therapy with imiquimod may be used to treat stage 0 penile cancer. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers helps kill more tumor cells. Sentinel lymph node biopsy followed by surgery Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. After the sentinel lymph node biopsy, the surgeon removes the cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 may be one of the following: - Mohs microsurgery. - Topical chemotherapy. - Topical biologic therapy with imiquimod. - Laser surgery. - Cryosurgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 penile cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Penile Cancer + If the cancer is only in the foreskin, wide local excision and circumcision may be the only treatment needed. Treatment of stage I penile cancer may include the following: - Surgery (partial or total penectomy with or without removal of lymph nodes in the groin. - External or internal radiation therapy. - Mohs microsurgery. - A clinical trial of laser therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I penile cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Penile Cancer + Treatment of stage II penile cancer may include the following: - Surgery (partial or total penectomy, with or without removal of lymph nodes in the groin). - External or internal radiation therapy followed by surgery. - A clinical trial of sentinel lymph node biopsy followed by surgery. - A clinical trial of laser surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II penile cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Penile Cancer + Treatment of stage III penile cancer may include the following: - Surgery (penectomy and removal of lymph nodes in the groin) with or without radiation therapy. - Radiation therapy. - A clinical trial of sentinel lymph node biopsy followed by surgery. - A clinical trial of radiosensitizers. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of new drugs, biologic therapy, or new kinds of surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III penile cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Penile Cancer + Treatment of stage IV penile cancer is usually palliative (to relieve symptoms and improve the quality of life). Treatment may include the following: - Surgery (wide local excision and removal of lymph nodes in the groin). - Radiation therapy. - A clinical trial of chemotherapy before or after surgery. - A clinical trial of new drugs, biologic therapy, or new kinds of surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV penile cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Penile Cancer +what research (or clinical trials) is being done for Penile Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers helps kill more tumor cells. Sentinel lymph node biopsy followed by surgery Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. After the sentinel lymph node biopsy, the surgeon removes the cancer. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Penile Cancer +What is (are) Oropharyngeal Cancer ?,"Key Points + - Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. - Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. - Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. - Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx. + The oropharynx is the middle part of the pharynx (throat), behind the mouth. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends where the trachea (windpipe) and esophagus (tube from the throat to the stomach) begin. Air and food pass through the pharynx on the way to the trachea or the esophagus. The oropharynx includes the following: - Soft palate. - Side and back walls of the throat. - Tonsils. - Back one-third of the tongue. Oropharyngeal cancer is a type of head and neck cancer. Sometimes more than one cancer can occur in the oropharynx and in other parts of the oral cavity, nose, pharynx, larynx (voice box), trachea, or esophagus at the same time. Most oropharyngeal cancers are squamous cell carcinomas. Squamous cells are the thin, flat cells that line the inside of the oropharynx. See the following PDQ summaries for more information about other types of head and neck cancers: - Hypopharyngeal Cancer Treatment - Lip and Oral Cavity Cancer Treatment - Oral Cavity and Oropharyngeal Cancer Prevention - Oral Cavity and Oropharyngeal Cancer Screening",CancerGov,Oropharyngeal Cancer +Who is at risk for Oropharyngeal Cancer? ?,"Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The most common risk factors for oropharyngeal cancer include the following: - A history of smoking cigarettes for more than 10 pack years and other tobacco use. - Personal history of head and neck cancer. - Heavy alcohol use. - Being infected with human papillomavirus (HPV), especially HPV type 16. The number of cases of oropharyngeal cancers linked to HPV infection is increasing. - Chewing betel quid, a stimulant commonly used in parts of Asia.",CancerGov,Oropharyngeal Cancer +What are the symptoms of Oropharyngeal Cancer ?,"Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat. These and other signs and symptoms may be caused by oropharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Trouble swallowing. - Trouble opening the mouth fully. - Trouble moving the tongue. - Weight loss for no known reason. - Ear pain. - A lump in the back of the mouth, throat, or neck. - A white patch on the tongue or lining of the mouth that does not go away. - Coughing up blood. Sometimes oropharyngeal cancer does not cause early signs or symptoms.",CancerGov,Oropharyngeal Cancer +How to diagnose Oropharyngeal Cancer ?,"Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as swollen lymph nodes in the neck or anything else that seems unusual. The medical doctor or dentist does a complete exam of the mouth and neck and looks under the tongue and down the throat with a small, long-handled mirror to check for abnormal areas. An exam of the eyes may be done to check for vision problems that are caused by nerves in the head and neck. A history of the patients health habits and past illnesses and treatments will also be taken. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time with the same machine. The combined scans give more detailed pictures of areas inside the body than either scan gives by itself. A PET-CT scan may be used to help diagnose disease, such as cancer, plan treatment, or find out how well treatment is working. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the head and neck, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye is injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. A fine-needle biopsy is usually done to remove a sample of tissue using a thin needle. The following procedures may be used to remove samples of cells or tissue: - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth or nose. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. The nose, throat, back of the tongue, esophagus, stomach, larynx, windpipe, and large airways will be checked. The type of endoscopy is named for the part of the body that is being examined. For example, pharyngoscopy is an exam to check the pharynx. - Laryngoscopy : A procedure in which the doctor checks the larynx with a mirror or with a laryngoscope. A laryngoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. If cancer is found, the following test may be done to study the cancer cells: - HPV test (human papillomavirus test): A laboratory test used to check the sample of tissue for certain types of HPV infection. This test is done because oropharyngeal cancer can be caused by HPV.",CancerGov,Oropharyngeal Cancer +What is the outlook for Oropharyngeal Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - Whether the patient has HPV infection of the oropharynx. - Whether the patient has a history of smoking cigarettes for ten or more pack years. - The stage of the cancer. - The number and size of lymph nodes with cancer. Oropharyngeal tumors related to HPV infection have a better prognosis and are less likely to recur than tumors not linked to HPV infection. Treatment options depend on the following: - The stage of the cancer. - Keeping the patient's ability to speak and swallow as normal as possible. - The patient's general health. Patients with oropharyngeal cancer have an increased risk of another cancer in the head or neck. This risk is increased in patients who continue to smoke or drink alcohol after treatment. See the PDQ summary Cigarette Smoking: Health Risks and How to Quit for more information.,CancerGov,Oropharyngeal Cancer +What are the stages of Oropharyngeal Cancer ?,"Key Points + - After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for oropharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx or to other parts of the body. + The process used to find out if cancer has spread within the oropharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of some of the tests used to diagnose oropharyngeal cancer are often used to stage the disease. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if oropharyngeal cancer spreads to the lung, the cancer cells in the lung are actually oropharyngeal cancer cells. The disease is metastatic oropharyngeal cancer, not lung cancer. + + + The following stages are used for oropharyngeal cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the oropharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and is 2 centimeters or smaller and is found in the oropharynx only. Stage II In stage II, the cancer is larger than 2 centimeters but not larger than 4 centimeters and is found in the oropharynx only. Stage III In stage III, the cancer is either: - 4 centimeters or smaller; cancer has spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - larger than 4 centimeters or has spread to the epiglottis (the flap that covers the trachea during swallowing). Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller. Stage IV Stage IV is divided into stage IVA, IVB, and IVC: - In stage IVA, cancer: - has spread to the larynx, front part of the roof of the mouth, lower jaw, or muscles that move the tongue or are used for chewing. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor (the lymph node is larger than 3 centimeters but not larger than 6 centimeters) or to more than one lymph node anywhere in the neck (the lymph nodes are 6 centimeters or smaller), and one of the following is true: - tumor in the oropharynx is any size and may have spread to the epiglottis (the flap that covers the trachea during swallowing); or - tumor has spread to the larynx, front part of the roof of the mouth, lower jaw, or muscles that move the tongue or are used for chewing. - In stage IVB, the tumor: - surrounds the carotid artery or has spread to the muscle that opens the jaw, the bone attached to the muscles that move the jaw, nasopharynx, or base of the skull. Cancer may have spread to one or more lymph nodes which can be any size; or - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters. - In stage IVC, the tumor may be any size and has spread beyond the oropharynx to other parts of the body, such as the lung, bone, or liver.",CancerGov,Oropharyngeal Cancer +What are the treatments for Oropharyngeal Cancer ?,"Key Points + - There are different types of treatment for patients with oropharyngeal cancer. - Patients with oropharyngeal cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with oropharyngeal cancer. + Different types of treatment are available for patients with oropharyngeal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Patients with oropharyngeal cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. + The patient's treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. Because the oropharynx helps in breathing, eating, and talking, patients may need special help adjusting to the side effects of the cancer and its treatment. The medical oncologist may refer the patient to other health professionals with special training in the treatment of patients with head and neck cancer. These may include the following specialists: - Head and neck surgeon. - Radiation oncologist. - Plastic surgeon. - Dentist. - Dietitian. - Psychologist. - Rehabilitation specialist. - Speech therapist. + + + Four types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is a common treatment of all stages of oropharyngeal cancer. A surgeon may remove the cancer and some of the healthy tissue around the cancer. Even if the surgeon removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. New types of surgery, including transoral robotic surgery, are being studied for the treatment of oropharyngeal cancer. Transoral robotic surgery may be used to remove cancer from hard-to-reach areas of the mouth and throat. Cameras attached to a robot give a 3-dimensional (3D) image that a surgeon can see. Using a computer, the surgeon guides very small tools at the ends of the robot arms to remove the cancer. This procedure may also be done using an endoscope. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. In advanced oropharyngeal cancer, dividing the daily dose of radiation into smaller-dose treatments improves the way the tumor responds to treatment. This is called hyperfractionated radiation therapy. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat oropharyngeal cancer. Radiation therapy may work better in patients who have stopped smoking before beginning treatment. If the thyroid or pituitary gland are part of the radiation treatment area, the patient has an increased risk of hypothyroidism (too little thyroid hormone). A blood test to check the thyroid hormone level in the body should be done before and after treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Systemic chemotherapy is used to treat oropharyngeal cancer. See Drugs Approved for Head and Neck Cancer for more information. (Oropharyngeal cancer is a type of head and neck cancer.) Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Monoclonal antibodies are a type of targeted therapy being used in the treatment of oropharyngeal cancer. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances in the blood or tissues that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Cetuximab is a type of monoclonal antibody that works by binding to a protein on the surface of the cancer cells and stops the cells from growing and dividing. It is used in the treatment of recurrent oropharyngeal cancer. Other types of monoclonal antibody therapy are being studied in the treatment of oropharyngeal cancer. Nivolumab is being studied in the treatment of stage III and IV oropharyngeal cancer. See Drugs Approved for Head and Neck Cancer for more information. (Oropharyngeal cancer is a type of head and neck cancer.) + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Following treatment, it is important to have careful head and neck exams to look for signs that the cancer has come back. Check-ups will be done every 6 to 12 weeks in the first year, every 3 months in the second year, every 3 to 4 months in the third year, and every 6 months thereafter. + + + Treatment Options by Stage + + + Stage I and Stage II Oropharyngeal Cancer + Treatment of stage I and stage II oropharyngeal cancer may include the following: - Radiation therapy. - Surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I oropharyngeal cancer and stage II oropharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III and Stage IV Oropharyngeal Cancer + Treatment of stage III oropharyngeal cancer and stage IV oropharyngeal cancer may include the following: - For patients with locally advanced cancer, surgery followed by radiation therapy. Chemotherapy also may be given at the same time as radiation therapy. - Radiation therapy alone for patients who cannot have chemotherapy. - Chemotherapy given at the same time as radiation therapy. - Chemotherapy followed by radiation therapy given at the same time as more chemotherapy. - A clinical trial of chemotherapy followed by surgery or radiation therapy. - A clinical trial of targeted therapy (nivolumab) with chemotherapy given at the same time as radiation therapy in patients with advanced HPV -positive oropharyngeal cancer. - A clinical trial of radiation therapy with or without chemotherapy. - A clinical trial of transoral surgery followed by standard - or low-dose radiation therapy with or without chemotherapy in patients with HPV-positive oropharyngeal cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III oropharyngeal cancer and stage IV oropharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Recurrent Oropharyngeal Cancer + Treatment of recurrent oropharyngeal cancer may include the following: - Surgery, if the tumor does not respond to radiation therapy. - Radiation therapy, if the tumor was not completely removed by surgery and previous radiation has not been given. - Second surgery, if the tumor was not completely removed by the first surgery. - Chemotherapy for patients with recurrent cancer that cannot be removed by surgery. - Radiation therapy given at the same time as chemotherapy. - Stereotactic body radiation therapy given at the same time as targeted therapy (cetuximab). - Clinical trials of targeted therapy, stereotactic body radiation therapy, or hyperfractionated radiation therapy given at the same time as chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent oropharyngeal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Oropharyngeal Cancer +what research (or clinical trials) is being done for Oropharyngeal Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Oropharyngeal Cancer +What is (are) Male Breast Cancer ?,"Key Points + - Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. - Male breast cancer is sometimes caused by inherited gene mutations (changes). - Men with breast cancer usually have lumps that can be felt. - Tests that examine the breasts are used to detect (find) and diagnose breast cancer in men. - If cancer is found, tests are done to study the cancer cells. - Survival for men with breast cancer is similar to survival for women with breast cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. + Breast cancer may occur in men. Men at any age may develop breast cancer, but it is usually detected (found) in men between 60 and 70 years of age. Male breast cancer makes up less than 1% of all cases of breast cancer. The following types of breast cancer are found in men: - Infiltrating ductal carcinoma: Cancer that has spread beyond the cells lining ducts in the breast. Most men with breast cancer have this type of cancer. - Ductal carcinoma in situ: Abnormal cells that are found in the lining of a duct; also called intraductal carcinoma. - Inflammatory breast cancer: A type of cancer in which the breast looks red and swollen and feels warm. - Paget disease of the nipple: A tumor that has grown from ducts beneath the nipple onto the surface of the nipple. Lobular carcinoma in situ (abnormal cells found in one of the lobes or sections of the breast), which sometimes occurs in women, has not been seen in men. + + + Men with breast cancer usually have lumps that can be felt. + Lumps and other signs may be caused by male breast cancer or by other conditions. Check with your doctor if you notice a change in your breasts.",CancerGov,Male Breast Cancer +Who is at risk for Male Breast Cancer? ?,"Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for breast cancer in men may include the following: - Being exposed to radiation. - Having a disease linked to high levels of estrogen in the body, such as cirrhosis (liver disease) or Klinefelter syndrome (a genetic disorder.) - Having several female relatives who have had breast cancer, especially relatives who have an alteration of the BRCA2 gene.",CancerGov,Male Breast Cancer +Is Male Breast Cancer inherited ?,Male breast cancer is sometimes caused by inherited gene mutations (changes).The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. Men who have a mutated gene related to breast cancer have an increased risk of this disease. There are tests that can detect (find) mutated genes. These genetic tests are sometimes done for members of families with a high risk of cancer. See the following PDQ summaries for more information: - Genetics of Breast and Gynecologic Cancers - Breast Cancer Prevention - Breast Cancer Screening,CancerGov,Male Breast Cancer +What are the symptoms of Male Breast Cancer ?,Men with breast cancer usually have lumps that can be felt.Lumps and other signs may be caused by male breast cancer or by other conditions. Check with your doctor if you notice a change in your breasts.,CancerGov,Male Breast Cancer +How to diagnose Male Breast Cancer ?,"Tests that examine the breasts are used to detect (find) and diagnose breast cancer in men. + The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Clinical breast exam (CBE): An exam of the breast by a doctor or other health professional. The doctor will carefully feel the breasts and under the arms for lumps or anything else that seems unusual. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The following are different types of biopsies: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Core biopsy : The removal of tissue using a wide needle. - Excisional biopsy : The removal of an entire lump of tissue. + + + If cancer is found, tests are done to study the cancer cells. + Decisions about the best treatment are based on the results of these tests. The tests give information about: - How quickly the cancer may grow. - How likely it is that the cancer will spread through the body. - How well certain treatments might work. - How likely the cancer is to recur (come back). Tests include the following: - Estrogen and progesterone receptor test : A test to measure the amount of estrogen and progesterone (hormones) receptors in cancer tissue. If cancer is found in the breast, tissue from the tumor is checked in the laboratory to find out whether estrogen and progesterone could affect the way cancer grows. The test results show whether hormone therapy may stop the cancer from growing. - HER2 test: A test to measure the amount of HER2 in cancer tissue. HER2 is a growth factor protein that sends growth signals to cells. When cancer forms, the cells may make too much of the protein, causing more cancer cells to grow. If cancer is found in the breast, tissue from the tumor is checked in the laboratory to find out if there is too much HER2 in the cells. The test results show whether monoclonal antibody therapy may stop the cancer from growing.",CancerGov,Male Breast Cancer +What is the outlook for Male Breast Cancer ?,"Survival for men with breast cancer is similar to survival for women with breast cancer. + Survival for men with breast cancer is similar to that for women with breast cancer when their stage at diagnosis is the same. Breast cancer in men, however, is often diagnosed at a later stage. Cancer found at a later stage may be less likely to be cured. + + + Certain factors affect prognosis (chance of recovery) and treatment options. + The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the breast only or has spread to other places in the body). - The type of breast cancer. - Estrogen-receptor and progesterone-receptor levels in the tumor tissue. - Whether the cancer is also found in the other breast. - The patients age and general health.",CancerGov,Male Breast Cancer +What are the stages of Male Breast Cancer ?,"Key Points + - After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for male breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV + + + After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. + After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. This process is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Breast cancer in men is staged the same as it is in women. The spread of cancer from the breast to lymph nodes and other parts of the body appears to be similar in men and women. The following tests and procedures may be used in the staging process: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer. + + + The following stages are used for male breast cancer: + This section describes the stages of breast cancer. The breast cancer stage is based on the results of testing that is done on the tumor and lymph nodes removed during surgery and other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition has not been seen in men. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to : - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Male Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Male Breast Cancer for more information. For treatment, stage IIIC breast cancer is divided into operable and inoperable stage IIIC. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain.",CancerGov,Male Breast Cancer +What are the treatments for Male Breast Cancer ?,"Key Points + - There are different types of treatment for men with breast cancer. - Five types of standard treatment are used to treat men with breast cancer: - Surgery - Chemotherapy - Hormone therapy - Radiation therapy - Targeted therapy - Treatment for male breast cancer may cause side effects. + + + There are different types of treatment for men with breast cancer. + Different types of treatment are available for men with breast cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. For some patients, taking part in a clinical trial may be the best treatment choice. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Five types of standard treatment are used to treat men with breast cancer: + Surgery Surgery for men with breast cancer is usually a modified radical mastectomy (removal of the breast, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes part of the chest wall muscles). Breast-conserving surgery, an operation to remove the cancer but not the breast itself, is also used for some men with breast cancer. A lumpectomy is done to remove the tumor (lump) and a small amount of normal tissue around it. Radiation therapy is given after surgery to kill any cancer cells that are left. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Breast Cancer for more information. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. See Drugs Approved for Breast Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat male breast cancer. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used to treat men with breast cancer. Monoclonal antibody therapy uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Monoclonal antibodies are also used with chemotherapy as adjuvant therapy (treatment given after surgery to lower the risk that the cancer will come back). Trastuzumab is a monoclonal antibody that blocks the effects of the growth factor protein HER2. See Drugs Approved for Breast Cancer for more information. + + + Treatment for male breast cancer may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Treatment Options for Male Breast Cancer + + + Initial Surgery + Treatment for men diagnosed with breast cancer is usually modified radical mastectomy. Breast-conserving surgery with lumpectomy may be used for some men. + + + Adjuvant Therapy + Therapy given after an operation when cancer cells can no longer be seen is called adjuvant therapy. Even if the doctor removes all the cancer that can be seen at the time of the operation, the patient may be given radiation therapy, chemotherapy, hormone therapy, and/or targeted therapy after surgery, to try to kill any cancer cells that may be left. - Node-negative: For men whose cancer is node-negative (cancer has not spread to the lymph nodes), adjuvant therapy should be considered on the same basis as for a woman with breast cancer because there is no evidence that response to therapy is different for men and women. - Node-positive: For men whose cancer is node-positive (cancer has spread to the lymph nodes), adjuvant therapy may include the following: - Chemotherapy plus tamoxifen (to block the effect of estrogen). - Other hormone therapy. - Targeted therapy with a monoclonal antibody (trastuzumab). These treatments appear to increase survival in men as they do in women. The patients response to hormone therapy depends on whether there are hormone receptors (proteins) in the tumor. Most breast cancers in men have these receptors. Hormone therapy is usually recommended for male breast cancer patients, but it can have many side effects, including hot flashes and impotence (the inability to have an erection adequate for sexual intercourse). + + + Distant Metastases + Treatment for men with distant metastases (cancer that has spread to other parts of the body) may be hormone therapy, chemotherapy, or both. Hormone therapy may include the following: - Orchiectomy (the removal of the testicles to decrease the amount of hormone made). - Luteinizing hormone-releasing hormone agonist with or without total androgen blockade (to decrease the the amount of sex hormones made). - Tamoxifen for cancer that is estrogen-receptor positive. - Progestin (a female hormone made in a laboratory). - Aromatase inhibitors (to decrease the amount of estrogen made). Hormone therapies may be used in sequence (one after the other). Standard chemotherapy regimens may be used if hormone therapy does not work. Men usually respond to therapy in the same way as women who have breast cancer.",CancerGov,Male Breast Cancer +What is (are) Primary Myelofibrosis ?,"Key Points + - Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. - Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. + + + Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. + The bone marrow is made of tissues that make blood cells (red blood cells, white blood cells, and platelets) and a web of fibers that support the blood-forming tissues. In primary myelofibrosis (also called chronic idiopathic myelofibrosis), large numbers of blood stem cells become blood cells that do not mature properly (blasts). The web of fibers inside the bone marrow also becomes very thick (like scar tissue) and slows the blood-forming tissues ability to make blood cells. This causes the blood-forming tissues to make fewer and fewer blood cells. In order to make up for the low number of blood cells made in the bone marrow, the liver and spleen begin to make the blood cells.",CancerGov,Primary Myelofibrosis +What are the symptoms of Primary Myelofibrosis ?,"Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. Check with your doctor if you have any of the following: - Feeling pain or fullness below the ribs on the left side. - Feeling full sooner than normal when eating. - Feeling very tired. - Shortness of breath. - Easy bruising or bleeding. - Petechiae (flat, red, pinpoint spots under the skin that are caused by bleeding). - Fever. - Night sweats. - Weight loss.",CancerGov,Primary Myelofibrosis +What is the outlook for Primary Myelofibrosis ?,"Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Prognosis (chance of recovery) depends on the following: - The age of the patient. - The number of abnormal red blood cells and white blood cells. - The number of blasts in the blood. - Whether there are certain changes in the chromosomes. - Whether the patient has signs such as fever, night sweats, or weight loss.",CancerGov,Primary Myelofibrosis +What are the treatments for Primary Myelofibrosis ?,"Treatment of primary myelofibrosis in patients without signs or symptoms is usually watchful waiting. Patients with primary myelofibrosis may have signs or symptoms of anemia. Anemia is usually treated with transfusion of red blood cells to relieve symptoms and improve quality of life. In addition, anemia may be treated with: - Erythropoietic growth factors. - Prednisone. - Danazol. - Thalidomide, lenalidomide, or pomalidomide, with or without prednisone. Treatment of primary myelofibrosis in patients with other signs or symptoms may include the following: - Targeted therapy with ruxolitinib. - Chemotherapy. - Donor stem cell transplant. - Thalidomide, lenalidomide, or pomalidomide. - Splenectomy. - Radiation therapy to the spleen, lymph nodes, or other areas outside the bone marrow where blood cells are forming. - Biologic therapy using interferon alfa or erythropoietic growth factors. - A clinical trial of other targeted therapy drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with primary myelofibrosis. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Primary Myelofibrosis +What is (are) Urethral Cancer ?,"Key Points + - Urethral cancer is a disease in which malignant (cancer) cells form in the tissues of the urethra. - There are different types of urethral cancer that begin in cells that line the urethra. - A history of bladder cancer can affect the risk of urethral cancer. - Signs of urethral cancer include bleeding or trouble with urination. - Tests that examine the urethra and bladder are used to detect (find) and diagnose urethral cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Urethral cancer is a disease in which malignant (cancer) cells form in the tissues of the urethra. + The urethra is the tube that carries urine from the bladder to outside the body. In women, the urethra is about 1 inches long and is just above the vagina. In men, the urethra is about 8 inches long, and goes through the prostate gland and the penis to the outside of the body. In men, the urethra also carries semen. Urethral cancer is a rare cancer that occurs more often in men than in women. + + + There are different types of urethral cancer that begin in cells that line the urethra. + These cancers are named for the types of cells that become malignant (cancer): - Squamous cell carcinoma is the most common type of urethral cancer. It forms in cells in the part of the urethra near the bladder in women, and in the lining of the urethra in the penis in men. - Transitional cell carcinoma forms in the area near the urethral opening in women, and in the part of the urethra that goes through the prostate gland in men. - Adenocarcinoma forms in the glands that are around the urethra in both men and women. Urethral cancer can metastasize (spread) quickly to tissues around the urethra and is often found in nearby lymph nodes by the time it is diagnosed. + + + A history of bladder cancer can affect the risk of urethral cancer. + Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for urethral cancer include the following: - Having a history of bladder cancer. - Having conditions that cause chronic inflammation in the urethra, including: - Sexually transmitted diseases (STDs), including human papillomavirus (HPV), especially HPV type 16. - Frequent urinary tract infections (UTIs).",CancerGov,Urethral Cancer +What are the symptoms of Urethral Cancer ?,"Signs of urethral cancer include bleeding or trouble with urination. These and other signs and symptoms may be caused by urethral cancer or by other conditions. There may be no signs or symptoms in the early stages. Check with your doctor if you have any of the following: - Trouble starting the flow of urine. - Weak or interrupted (""stop-and-go"") flow of urine. - Frequent urination, especially at night. - Incontinence. - Discharge from the urethra. - Bleeding from the urethra or blood in the urine. - A lump or thickness in the perineum or penis. - A painless lump or swelling in the groin.",CancerGov,Urethral Cancer +How to diagnose Urethral Cancer ?,"Tests that examine the urethra and bladder are used to detect (find) and diagnose urethral cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Digital rectal exam : An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. - Urine cytology : A laboratory test in which a sample of urine is checked under a microscope for abnormal cells. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, and white blood cells. If white blood cells (a sign of infection) are found, a urine culture is usually done to find out what type of infection it is. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the pelvis and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. - Biopsy: The removal of cell or tissue samples from the urethra, bladder, and, sometimes, the prostate gland. The samples are viewed under a microscope by a pathologist to check for signs of cancer.",CancerGov,Urethral Cancer +What is the outlook for Urethral Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the cancer formed in the urethra. - Whether the cancer has spread through the mucosa lining the urethra to nearby tissue, to lymph nodes, or to other parts of the body. - Whether the patient is a male or female. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).",CancerGov,Urethral Cancer +What are the stages of Urethral Cancer ?,"Key Points + - After urethral cancer has been diagnosed, tests are done to find out if cancer cells have spread within the urethra or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Urethral cancer is staged and treated based on the part of the urethra that is affected. - Distal urethral cancer - Proximal urethral cancer - Bladder and/or prostate cancer may occur at the same time as urethral cancer. + + + After urethral cancer has been diagnosed, tests are done to find out if cancer cells have spread within the urethra or to other parts of the body. + The process used to find out if cancer has spread within the urethra or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan) of the pelvis and abdomen : A procedure that makes a series of detailed pictures of the pelvis and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the urethra, nearby lymph nodes, and other soft tissue and bones in the pelvis. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Urethrography: A series of x-rays of the urethra. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. A dye is injected through the urethra into the bladder. The dye coats the bladder and urethra and x-rays are taken to see if the urethra is blocked and if cancer has spread to nearby tissue. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if urethral cancer spreads to the lung, the cancer cells in the lung are actually urethral cancer cells. The disease is metastatic urethral cancer, not lung cancer. + + + Urethral cancer is staged and treated based on the part of the urethra that is affected. + Urethral cancer is staged and treated based on the part of the urethra that is affected and how deeply the tumor has spread into tissue around the urethra. Urethral cancer can be described as distal or proximal. Distal urethral cancer In distal urethral cancer, the cancer usually has not spread deeply into the tissue. In women, the part of the urethra that is closest to the outside of the body (about inch) is affected. In men, the part of the urethra that is in the penis is affected. Proximal urethral cancer Proximal urethral cancer affects the part of the urethra that is not the distal urethra. In women and men, proximal urethral cancer usually has spread deeply into tissue. + + + Bladder and/or prostate cancer may occur at the same time as urethral cancer. + In men, cancer that forms in the proximal urethra (the part of the urethra that passes through the prostate to the bladder) may occur at the same time as cancer of the bladder and/or prostate. Sometimes this occurs at diagnosis and sometimes it occurs later.",CancerGov,Urethral Cancer +What are the treatments for Urethral Cancer ?,"Key Points + - There are different types of treatment for patients with urethral cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Active surveillance - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with urethral cancer. + Different types of treatments are available for patients with urethral cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Four types of standard treatment are used: + Surgery Surgery to remove the cancer is the most common treatment for cancer of the urethra. One of the following types of surgery may be done: - Open excision: Removal of the cancer by surgery. - Transurethral resection (TUR): Surgery to remove the cancer using a special tool inserted into the urethra. - Electroresection with fulguration: Surgery to remove the cancer by electric current. A lighted tool with a small wire loop on the end is used to remove the cancer or to burn the tumor away with high-energy electricity. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove or destroy tissue. - Lymph node dissection: Lymph nodes in the pelvis and groin may be removed. - Cystourethrectomy: Surgery to remove the bladder and the urethra. - Cystoprostatectomy: Surgery to remove the bladder and the prostate. - Anterior exenteration: Surgery to remove the urethra, the bladder, and the vagina. Plastic surgery may be done to rebuild the vagina. - Partial penectomy: Surgery to remove the part of the penis surrounding the urethra where cancer has spread. Plastic surgery may be done to rebuild the penis. - Radical penectomy: Surgery to remove the entire penis. Plastic surgery may be done to rebuild the penis. If the urethra is removed, the surgeon will make a new way for the urine to pass from the body. This is called urinary diversion. If the bladder is removed, the surgeon will make a new way for urine to be stored and passed from the body. The surgeon may use part of the small intestine to make a tube that passes urine through an opening (stoma). This is called an ostomy or urostomy. If a patient has an ostomy, a disposable bag to collect urine is worn under clothing. The surgeon may also use part of the small intestine to make a new storage pouch (continent reservoir) inside the body where the urine can collect. A tube (catheter) is then used to drain the urine through a stoma. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer and where the cancer formed in the urethra. External and internal radiation therapy are used to treat urethral cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type of cancer and where the cancer formed in the urethra. Active surveillance Active surveillance is following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the condition is getting worse. In active surveillance, patients are given certain exams and tests, including biopsies, on a regular schedule. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Urethral Cancer + + + Distal Urethral Cancer + Treatment of abnormal cells in the mucosa (inside lining of the urethra that have not become cancer, may include surgery to remove the tumor (open excision or transurethral resection), electroresection with fulguration, or laser surgery. Treatment of distal urethral cancer is different for men and women. For women, treatment may include the following: - Surgery to remove the tumor (transurethral resection), electroresection and fulguration, or laser surgery for tumors that have not spread deeply into tissue. - Brachytherapy and/or external radiation therapy for tumors that have not spread deeply into tissue. - Surgery to remove the tumor (anterior exenteration) for tumors that have spread deeply into tissue. Sometimes nearby lymph nodes are also removed (lymph node dissection). Radiation therapy may be given before surgery. For men, treatment may include the following: - Surgery to remove the tumor (transurethral resection), electroresection and fulguration, or laser surgery for tumors that have not spread deeply into tissue. - Surgery to remove part of the penis (partial penectomy) for tumors that are near the tip of the penis. Sometimes nearby lymph nodes are also removed (lymph node dissection). - Surgery to remove part of the urethra for tumors that are in the distal urethra but not at the tip of the penis and have not spread deeply into tissue. Sometimes nearby lymph nodes are also removed (lymph node dissection). - Surgery to remove the penis (radical penectomy) for tumors that have spread deeply into tissue. Sometimes nearby lymph nodes are also removed (lymph node dissection). - Radiation therapy with or without chemotherapy. - Chemotherapy given together with radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with distal urethral cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Proximal Urethral Cancer + Treatment of proximal urethral cancer or urethral cancer that affects the entire urethra is different for men and women. For women, treatment may include the following: - Radiation therapy and/or surgery (open excision, transurethral resection) for tumors that are of an inch or smaller. - Radiation therapy followed by surgery (anterior exenteration with lymph node dissection and urinary diversion). For men, treatment may include the following: - Radiation therapy or radiation therapy and chemotherapy, followed by surgery (cystoprostatectomy, penectomy, lymph node dissection, and urinary diversion). Check the list of NCI-supported cancer clinical trials that are now accepting patients with proximal urethral cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Urethral Cancer that Forms with Invasive Bladder Cancer + Treatment of urethral cancer that forms at the same time as invasive bladder cancer may include the following: - Surgery (cystourethrectomy in women, or urethrectomy and cystoprostatectomy in men). If the urethra is not removed during surgery to remove the bladder, treatment may include the following: - Active surveillance. Samples of cells are taken from inside the urethra and checked under a microscope for signs of cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with urethral cancer associated with invasive bladder cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Metastatic or Recurrent Urethral Cancer + Treatment of urethral cancer that has metastasized (spread to other parts of the body) is usually chemotherapy. Treatment of recurrent urethral cancer may include one or more of the following: - Surgery to remove the tumor. Sometimes nearby lymph nodes are also removed (lymph node dissection). - Radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent urethral cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Urethral Cancer +what research (or clinical trials) is being done for Urethral Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Urethral Cancer +What is (are) Melanoma ?,"Key Points + - Melanoma is a disease in which malignant (cancer) cells form in melanocytes (cells that color the skin). - There are different types of cancer that start in the skin. - Melanoma can occur anywhere on the skin. - Unusual moles, exposure to sunlight, and health history can affect the risk of melanoma. - Signs of melanoma include a change in the way a mole or pigmented area looks. - Tests that examine the skin are used to detect (find) and diagnose melanoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Melanoma is a disease in which malignant (cancer) cells form in melanocytes (cells that color the skin). + The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). Skin cancer begins in the epidermis, which is made up of three kinds of cells: - Squamous cells: Thin, flat cells that form the top layer of the epidermis. - Basal cells: Round cells under the squamous cells. - Melanocytes: Cells that make melanin and are found in the lower part of the epidermis. Melanin is the pigment that gives skin its natural color. When skin is exposed to the sun or artificial light, melanocytes make more pigment and cause the skin to darken. The number of new cases of melanoma has been increasing over the last 40 years. Melanoma is most common in adults, but it is sometimes found in children and adolescents. (See the PDQ summary on Unusual Cancers of Childhood Treatment for more information on melanoma in children and adolescents.) + + + There are different types of cancer that start in the skin. + There are two forms of skin cancer: melanoma and nonmelanoma. Melanoma is a rare form of skin cancer. It is more likely to invade nearby tissues and spread to other parts of the body than other types of skin cancer. When melanoma starts in the skin, it is called cutaneous melanoma. Melanoma may also occur in mucous membranes (thin, moist layers of tissue that cover surfaces such as the lips). This PDQ summary is about cutaneous (skin) melanoma and melanoma that affects the mucous membranes. The most common types of skin cancer are basal cell carcinoma and squamous cell carcinoma. They are nonmelanoma skin cancers. Nonmelanoma skin cancers rarely spread to other parts of the body. (See the PDQ summary on Skin Cancer Treatment for more information on basal cell and squamous cell skin cancer.) + + + Melanoma can occur anywhere on the skin. + In men, melanoma is often found on the trunk (the area from the shoulders to the hips) or the head and neck. In women, melanoma forms most often on the arms and legs. When melanoma occurs in the eye, it is called intraocular or ocular melanoma. (See the PDQ summary on Intraocular (Uveal) Melanoma Treatment for more information.)",CancerGov,Melanoma +Who is at risk for Melanoma? ?,"Unusual moles, exposure to sunlight, and health history can affect the risk of melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for melanoma include the following: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Being exposed to certain factors in the environment (in the air, your home or workplace, and your food and water). Some of the environmental risk factors for melanoma are radiation, solvents, vinyl chloride, and PCBs. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white. - Having a weakened immune system. - Having certain changes in the genes that are linked to melanoma. Being white or having a fair complexion increases the risk of melanoma, but anyone can have melanoma, including people with dark skin. See the following PDQ summaries for more information on risk factors for melanoma: - Genetics of Skin Cancer - Skin Cancer Prevention",CancerGov,Melanoma +What are the symptoms of Melanoma ?,"Signs of melanoma include a change in the way a mole or pigmented area looks. These and other signs and symptoms may be caused by melanoma or by other conditions. Check with your doctor if you have any of the following: - A mole that: - changes in size, shape, or color. - has irregular edges or borders. - is more than one color. - is asymmetrical (if the mole is divided in half, the 2 halves are different in size or shape). - itches. - oozes, bleeds, or is ulcerated (a hole forms in the skin when the top layer of cells breaks down and the tissue below shows through). - A change in pigmented (colored) skin. - Satellite moles (new moles that grow near an existing mole). For pictures and descriptions of common moles and melanoma, see Common Moles, Dysplastic Nevi, and Risk of Melanoma.",CancerGov,Melanoma +How to diagnose Melanoma ?,"Tests that examine the skin are used to detect (find) and diagnose melanoma. If a mole or pigmented area of the skin changes or looks abnormal, the following tests and procedures can help find and diagnose melanoma: - Skin exam: A doctor or nurse checks the skin for moles, birthmarks, or other pigmented areas that look abnormal in color, size, shape, or texture. - Biopsy : A procedure to remove the abnormal tissue and a small amount of normal tissue around it. A pathologist looks at the tissue under a microscope to check for cancer cells. It can be hard to tell the difference between a colored mole and an early melanoma lesion. Patients may want to have the sample of tissue checked by a second pathologist. If the abnormal mole or lesion is cancer, the sample of tissue may also be tested for certain gene changes. It is important that abnormal areas of the skin not be shaved off or cauterized (destroyed with a hot instrument, an electric current, or a caustic substance) because cancer cells that remain may grow and spread. See the PDQ summary on Skin Cancer Screening for more information.",CancerGov,Melanoma +What is the outlook for Melanoma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The thickness of the tumor and where it is in the body. - How quickly the cancer cells are dividing. - Whether there was bleeding or ulceration of the tumor. - How much cancer is in the lymph nodes. - The number of places cancer has spread to in the body. - The level of lactate dehydrogenase (LDH) in the blood. - Whether the cancer has certain mutations (changes) in a gene called BRAF. - The patients age and general health.,CancerGov,Melanoma +What are the stages of Melanoma ?,"Key Points + - After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body. - The following stages are used for melanoma: - Stage 0 (Melanoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. + The process used to find out whether cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Lymph node mapping and sentinel lymph node biopsy : Procedures in which a radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through lymph ducts to the sentinel node or nodes (the first lymph node or nodes where cancer cells are likely to spread). The surgeon removes only the nodes with the radioactive substance or dye. A pathologist views a sample of tissue under a microscope to check for cancer cells. If no cancer cells are found, it may not be necessary to remove more nodes. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. For melanoma, pictures may be taken of the chest, abdomen, and pelvis. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. For melanoma, the blood is checked for an enzyme called lactate dehydrogenase (LDH). LDH levels that are higher than normal may be a sign of melanoma. The results of these tests are viewed together with the results of the tumor biopsy to find out the stage of the melanoma. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if melanoma spreads to the lung, the cancer cells in the lung are actually melanoma cells. The disease is metastatic melanoma, not lung cancer. + + + The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body. + The staging of melanoma depends on the following: - The thickness of the tumor. The thickness is described using the Breslow scale. - Whether the tumor is ulcerated (has broken through the skin). - Whether the tumor has spread to the lymph nodes and if the lymph nodes are joined together (matted). - Whether the tumor has spread to other parts of the body. + + + The following stages are used for melanoma: + Stage 0 (Melanoma in Situ) In stage 0, abnormal melanocytes are found in the epidermis. These abnormal melanocytes may become cancer and spread into nearby normal tissue. Stage 0 is also called melanoma in situ. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - Stage IA: In stage IA, the tumor is not more than 1 millimeter thick, with no ulceration. - Stage IB: In stage IB, the tumor is either: - not more than 1 millimeter thick and it has ulceration; or - more than 1 but not more than 2 millimeters thick, with no ulceration. Stage II Stage II is divided into stages IIA, IIB, and IIC. - Stage IIA: In stage IIA, the tumor is either: - more than 1 but not more than 2 millimeters thick, with ulceration; or - more than 2 but not more than 4 millimeters thick, with no ulceration. - Stage IIB: In stage IIB, the tumor is either: - more than 2 but not more than 4 millimeters thick, with ulceration; or - more than 4 millimeters thick, with no ulceration. - Stage IIC: In stage IIC, the tumor is more than 4 millimeters thick, with ulceration. Stage III In stage III, the tumor may be any thickness, with or without ulceration. One or more of the following is true: - Cancer has spread to one or more lymph nodes. - Lymph nodes are joined together (matted). - Cancer is in a lymph vessel between the primary tumor and nearby lymph nodes. The cancer is more than 2 centimeters away from the primary tumor. - Very small tumors are found on or under the skin, not more than 2 centimeters away from the primary tumor. Stage IV In stage IV, the cancer has spread to other places in the body, such as the lung, liver, brain, bone, soft tissue, or gastrointestinal (GI) tract. Cancer may have spread to places in the skin far away from where it first started.",CancerGov,Melanoma +What are the treatments for Melanoma ?,"Key Points + - There are different types of treatment for patients with melanoma. - Five types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Immunotherapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Treatment for melanoma may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with melanoma. + Different types of treatment are available for patients with melanoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery to remove the tumor is the primary treatment of all stages of melanoma. A wide local excision is used to remove the melanoma and some of the normal tissue around it. Skin grafting (taking skin from another part of the body to replace the skin that is removed) may be done to cover the wound caused by surgery. It is important to know whether cancer has spread to the lymph nodes. Lymph node mapping and sentinel lymph node biopsy are done to check for cancer in the sentinel lymph node (the first lymph node the cancer is likely to spread to from the tumor) during surgery. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, more lymph nodes will be removed and tissue samples will be checked for signs of cancer. This is called a lymphadenectomy. Even if the doctor removes all the melanoma that can be seen at the time of surgery, some patients may be given chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Surgery to remove cancer that has spread to the lymph nodes, lung, gastrointestinal (GI) tract, bone, or brain may be done to improve the patients quality of life by controlling symptoms. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). One type of regional chemotherapy is hyperthermic isolated limb perfusion. With this method, anticancer drugs go directly to the arm or leg the cancer is in. The flow of blood to and from the limb is temporarily stopped with a tourniquet. A warm solution with the anticancer drug is put directly into the blood of the limb. This gives a high dose of drugs to the area where the cancer is. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Melanoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat melanoma, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or biologic therapy. The following types of immunotherapy are being used in the treatment of melanoma: - Immune checkpoint inhibitor therapy: Some types of immune cells, such as T cells, and some cancer cells have certain proteins, called checkpoint proteins, on their surface that keep immune responses in check. When cancer cells have large amounts of these proteins, they will not be attacked and killed by T cells. Immune checkpoint inhibitors block these proteins and the ability of T cells to kill cancer cells is increased. They are used to treat some patients with advanced melanoma or tumors that cannot be removed by surgery. There are two types of immune checkpoint inhibitor therapy: - CTLA-4 inhibitor: CTL4-A is a protein on the surface of T cells that helps keep the bodys immune responses in check. When CTLA-4 attaches to another protein called B7 on a cancer cell, it stops the T cell from killing the cancer cell. CTLA-4 inhibitors attach to CTLA-4 and allow the T cells to kill cancer cells. Ipilimumab is a type of CTLA-4 inhibitor. - PD-1 inhibitor: PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Pembrolizumab and nivolumab are types of PD-1 inhibitors. - Interferon: Interferon affects the division of cancer cells and can slow tumor growth. - Interleukin-2 (IL-2): IL-2 boosts the growth and activity of many immune cells, especially lymphocytes (a type of white blood cell). Lymphocytes can attack and kill cancer cells. - Tumor necrosis factor (TNF) therapy: TNF is a protein made by white blood cells in response to an antigen or infection. TNF is made in the laboratory and used as a treatment to kill cancer cells. It is being studied in the treatment of melanoma. See Drugs Approved for Melanoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. The following types of targeted therapy are used or being studied in the treatment of melanoma: - Signal transduction inhibitor therapy: Signal transduction inhibitors block signals that are passed from one molecule to another inside a cell. Blocking these signals may kill cancer cells. - Vemurafenib, dabrafenib, trametinib, and cobimetinib are signal transduction inhibitors used to treat some patients with advanced melanoma or tumors that cannot be removed by surgery. Vemurafenib and dabrafenib block the activity of proteins made by mutant BRAF genes. Trametinib and cobimetinib affect the growth and survival of cancer cells. - Oncolytic virus therapy: A type of targeted therapy that is used in the treatment of melanoma. Oncolytic virus therapy uses a virus that infects and breaks down cancer cells but not normal cells. Radiation therapy or chemotherapy may be given after oncolytic virus therapy to kill more cancer cells. - Angiogenesis inhibitors: A type of targeted therapy that is being studied in the treatment of melanoma. Angiogenesis inhibitors block the growth of new blood vessels. In cancer treatment, they may be given to prevent the growth of new blood vessels that tumors need to grow. New targeted therapies and combinations of therapies are being studied in the treatment of melanoma. See Drugs Approved for Melanoma for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website + + + Treatment for melanoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage 0 (Melanoma in Situ) + Treatment of stage 0 is usually surgery to remove the area of abnormal cells and a small amount of normal tissue around it. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Melanoma + Treatment of stage I melanoma may include the following: - Surgery to remove the tumor and some of the normal tissue around it. Sometimes lymph node mapping and removal of lymph nodes is also done. - A clinical trial of new ways to find cancer cells in the lymph nodes. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Melanoma + Treatment of stage II melanoma may include the following: - Surgery to remove the tumor and some of the normal tissue around it. Sometimes lymph node mapping and sentinel lymph node biopsy are done to check for cancer in the lymph nodes at the same time as the surgery to remove the tumor. If cancer is found in the sentinel lymph node, more lymph nodes may be removed. - Surgery followed by immunotherapy with interferon if there is a high risk that the cancer will come back. - A clinical trial of new types of treatment to be used after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Melanoma That Can Be Removed By Surgery + Treatment of stage III melanoma that can be removed by surgery may include the following: - Surgery to remove the tumor and some of the normal tissue around it. Skin grafting may be done to cover the wound caused by surgery. Sometimes lymph node mapping and sentinel lymph node biopsy are done to check for cancer in the lymph nodes at the same time as the surgery to remove the tumor. If cancer is found in the sentinel lymph node, more lymph nodes may be removed. - Surgery followed by immunotherapy with ipilimumab or interferon if there is a high risk that the cancer will come back. - A clinical trial of immunotherapy or targeted therapy to be used after surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Melanoma That Cannot Be Removed By Surgery, Stage IV Melanoma, and Recurrent Melanoma + Treatment of stage III melanoma that cannot be removed by surgery, stage IV melanoma, and recurrent melanoma may include the following: - Immunotherapy with ipilimumab, pembrolizumab, nivolumab, or interleukin-2 (IL-2). Sometimes ipilimumab and nivolumab are given together. - Targeted therapy with vemurafenib, dabrafenib, trametinib, or cobimetinib. Sometimes vemurafenib and cobimetinib or dabrafenib and trametinib are given together. - Injections into the tumor, such as oncolytic virus therapy. - Chemotherapy. - Palliative therapy to relieve symptoms and improve the quality of life. This may include: - Surgery to remove lymph nodes or tumors in the lung, gastrointestinal (GI) tract, bone, or brain. - Radiation therapy to the brain, spinal cord, or bone. Treatments that are being studied in clinical trials for stage III melanoma that cannot be removed by surgery, stage IV melanoma, and recurrent melanoma include the following: - Immunotherapy alone or in combination with other therapies such as targeted therapy. - Targeted therapy, such as signal transduction inhibitors, angiogenesis inhibitors, oncolytic virus therapy, or drugs that target certain gene mutations. These may be given alone or in combination. - Surgery to remove all known cancer. - Regional chemotherapy (hyperthermic isolated limb perfusion). Some patients may also have immunotherapy with tumor necrosis factor. - Systemic chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV melanoma and recurrent melanoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Melanoma +what research (or clinical trials) is being done for Melanoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website + + + Treatment for melanoma may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",CancerGov,Melanoma +What is (are) Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"Key Points + - Central nervous system atypical teratoid/rhabdoid tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. - Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. - The signs and symptoms of atypical teratoid/rhabdoid tumor are not the same in every patient. - Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. - Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Central nervous system atypical teratoid/rhabdoid tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. + Central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT) is a very rare, fast-growing tumor of the brain and spinal cord. It usually occurs in children aged three years and younger, although it can occur in older children and adults. About half of these tumors form in the cerebellum or brain stem. The cerebellum is the part of the brain that controls movement, balance, and posture. The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. AT/RT may also be found in other parts of the central nervous system (brain and spinal cord). This summary describes the treatment of primary brain tumors (tumors that begin in the brain). Treatment for metastatic brain tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain, is not covered in this summary. For more information, see the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview about the different types of childhood brain and spinal cord tumors. Brain tumors can occur in both children and adults; however, treatment for children may be different than treatment for adults. See the PDQ treatment summary on Adult Central Nervous System Tumors Treatment for more information.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +Who is at risk for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor? ?,"Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Atypical teratoid/rhabdoid tumor may be linked to changes in the tumor suppressor genes SMARCB1 or SMARCA4. Genes of this type make a protein that helps control cell growth. Changes in the DNA of tumor suppressor genes like SMARCB1 or SMARCA4 may lead to cancer. Changes in the SMARCB1 or SMARCA4 genes may be inherited (passed on from parents to offspring). When this gene change is inherited, tumors may form in two parts of the body at the same time (for example, in the brain and the kidney). For patients with AT/RT, genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be recommended.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +What are the symptoms of Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"The signs and symptoms of atypical teratoid/rhabdoid tumor are not the same in every patient. Signs and symptoms depend on the following: - The child's age. - Where the tumor has formed. Because atypical teratoid/rhabdoid tumor is fast growing, signs and symptoms may develop quickly and get worse over a period of days or weeks. Signs and symptoms may be caused by AT/RT or by other conditions. Check with your child's doctor if your child has any of the following: - Morning headache or headache that goes away after vomiting. - Nausea and vomiting. - Unusual sleepiness or change in activity level. - Loss of balance, lack of coordination, or trouble walking. - Increase in head size (in infants).",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +How to diagnose Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - SMARCB1 and SMARCA4 gene testing: A laboratory test in which a sample of blood or tissue is tested for the SMARCB1 and SMARCA4 genes. + Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery. If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type of brain tumor. It is often difficult to completely remove AT/RT because of where the tumor is in the brain and because it may already have spread at the time of diagnosis. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This test is used to tell the difference between AT/RT and other brain tumors.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +What is the outlook for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are certain inherited gene changes. - The age of the child. - The amount of tumor remaining after surgery. - Whether the cancer has spread to other parts of the central nervous system (brain and spinal cord) or to the kidney at the time of diagnosis.,CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +What are the stages of Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"Key Points + - There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. + + + There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. + The extent or spread of cancer is usually described as stages. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor. For treatment, this tumor is grouped as newly diagnosed or recurrent. Treatment depends on the following: - The age of the child. - How much cancer remains after surgery to remove the tumor. Results from the following procedure are also used to plan treatment: - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the kidney, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. This procedure is done to check for tumors that may also have formed in the kidney.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +what research (or clinical trials) is being done for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied in the treatment of recurrent childhood central nervous system atypical teratoid/rhabdoid tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +What are the treatments for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"Key Points + - There are different types of treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. - Children with atypical teratoid/rhabdoid tumor should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Four types of treatment are used: - Surgery - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. + Different types of treatment are available for patients with central nervous system atypical teratoid/rhabdoid tumor (AT/RT). Treatment for AT/RT is usually within a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Children with atypical teratoid/rhabdoid tumor should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with central nervous system cancer and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric neurosurgeon. - Radiation oncologist. - Neurologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. - Geneticist or genetic counselor. + + + Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Signs or symptoms caused by the tumor may begin before diagnosis. These signs or symptoms may continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Four types of treatment are used: + Surgery Surgery is used to diagnose and treat CNS atypical teratoid/rhabdoid tumor. See the General Information section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, most patients will be given chemotherapy and possibly radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. - When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect tumor cells in those areas (regional chemotherapy). Regular doses of anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and reach the tumor. Anticancer drugs injected into the cerebrospinal fluid are able to reach the tumor. This is called intrathecal chemotherapy. - When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach tumor cells throughout the body (systemic chemotherapy). High doses of some anticancer drugs given into a vein can cross the blood-brain barrier and reach the tumor. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of tumor being treated and whether it has spread. External radiation therapy may be given to the brain and spinal cord. Because radiation therapy can affect growth and brain development in young children, especially children who are three years old or younger, the dose of radiation therapy may be lower than in older children. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied in the treatment of recurrent childhood central nervous system atypical teratoid/rhabdoid tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Newly Diagnosed Childhood CNS Atypical Teratoid/Rhabdoid Tumor + + + Key Points + - There is no standard treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. - Combinations of treatments are used for patients with atypical teratoid/rhabdoid tumor. + + + There is no standard treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. + + + + Combinations of treatments are used for patients with atypical teratoid/rhabdoid tumor. + Because atypical teratoid/rhabdoid tumor (AT/RT) is fast-growing, a combination of treatments is usually given. After surgery to remove the tumor, treatments for AT/RT may include combinations of the following: - Chemotherapy. - Radiation therapy. - High-dose chemotherapy with stem cell transplant. Clinical trials of new treatments should be considered for patients with newly diagnosed atypical teratoid/rhabdoid tumor.",CancerGov,Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor +What is (are) Retinoblastoma ?,"Key Points + - Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. - Retinoblastoma occurs in heritable and nonheritable forms. - Treatment for both forms of retinoblastoma should include genetic counseling. - Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma. - A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. - Signs and symptoms of retinoblastoma include ""white pupil"" and eye pain or redness. - Tests that examine the retina are used to detect (find) and diagnose retinoblastoma. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. + The retina is the nerve tissue that lines the inside of the back of the eye. The retina senses light and sends images to the brain by way of the optic nerve. Although retinoblastoma may occur at any age, it occurs most often in children younger than 2 years. The cancer may be in one eye (unilateral) or in both eyes (bilateral). Retinoblastoma rarely spreads from the eye to nearby tissue or other parts of the body. Cavitary retinoblastoma is a rare type of retinoblastoma in which cavities (hollow spaces) form within the tumor. + + + Treatment for both forms of retinoblastoma should include genetic counseling. + Parents should receive genetic counseling (a discussion with a trained professional about the risk of genetic diseases) to discuss genetic testing to check for a mutation (change) in the RB1 gene. Genetic counseling also includes a discussion of the risk of retinoblastoma for the child and the child's brothers or sisters.",CancerGov,Retinoblastoma +Is Retinoblastoma inherited ?,"Retinoblastoma occurs in heritable and nonheritable forms. + A child is thought to have the heritable form of retinoblastoma when one of the following is true: - There is a family history of retinoblastoma. - There is a certain mutation (change) in the RB1 gene. The mutation in the RB1 gene may be passed from the parent to the child or it may occur in the egg or sperm before conception or soon after conception. - There is more than one tumor in the eye or there is a tumor in both eyes. - There is a tumor in one eye and the child is younger than 1 year. After heritable retinoblastoma has been diagnosed and treated, new tumors may continue to form for a few years. Regular eye exams to check for new tumors are usually done every 2 to 4 months for at least 28 months. Nonheritable retinoblastoma is retinoblastoma that is not the heritable form. Most cases of retinoblastoma are the nonheritable form. + + + Treatment for both forms of retinoblastoma should include genetic counseling. + Parents should receive genetic counseling (a discussion with a trained professional about the risk of genetic diseases) to discuss genetic testing to check for a mutation (change) in the RB1 gene. Genetic counseling also includes a discussion of the risk of retinoblastoma for the child and the child's brothers or sisters. + + + Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma. + A child with a family history of retinoblastoma should have regular eye exams beginning early in life to check for retinoblastoma, unless it is known that the child does not have the RB1 gene change. Early diagnosis of retinoblastoma may mean the child will need less intense treatment. Brothers or sisters of a child with retinoblastoma should have regular eye exams by an ophthalmologist until age 3 to 5 years, unless it is known that the brother or sister does not have the RB1 gene change. + + + A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. + A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. The brain tumor is usually diagnosed between 20 and 36 months of age. Regular screening using MRI (magnetic resonance imaging) may be done for a child thought to have heritable retinoblastoma or for a child with retinoblastoma in one eye and a family history of the disease. CT (computerized tomography) scans are usually not used for routine screening in order to avoid exposing the child to ionizing radiation. Heritable retinoblastoma also increases the child's risk of other types of cancer such as lung cancer, bladder cancer, or melanoma in later years. Regular follow-up exams are important.",CancerGov,Retinoblastoma +Who is at risk for Retinoblastoma? ?,"A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. The brain tumor is usually diagnosed between 20 and 36 months of age. Regular screening using MRI (magnetic resonance imaging) may be done for a child thought to have heritable retinoblastoma or for a child with retinoblastoma in one eye and a family history of the disease. CT (computerized tomography) scans are usually not used for routine screening in order to avoid exposing the child to ionizing radiation. Heritable retinoblastoma also increases the child's risk of other types of cancer such as lung cancer, bladder cancer, or melanoma in later years. Regular follow-up exams are important.",CancerGov,Retinoblastoma +What are the symptoms of Retinoblastoma ?,These and other signs and symptoms may be caused by retinoblastoma or by other conditions. Check with a doctor if your child has any of the following: - Pupil of the eye appears white instead of red when light shines into it. This may be seen in flash photographs of the child. - Eyes appear to be looking in different directions (lazy eye). - Pain or redness in the eye. - Infection around the eye. - Eyeball is larger than normal. - Colored part of the eye and pupil look cloudy.,CancerGov,Retinoblastoma +How to diagnose Retinoblastoma ?,"The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. The doctor will ask if there is a family history of retinoblastoma. - Eye exam with dilated pupil: An exam of the eye in which the pupil is dilated (opened wider) with medicated eye drops to allow the doctor to look through the lens and pupil to the retina. The inside of the eye, including the retina and the optic nerve, is examined with a light. Depending on the age of the child, this exam may be done under anesthesia. There are several types of eye exams that are done with the pupil dilated: - Ophthalmoscopy : An exam of the inside of the back of the eye to check the retina and optic nerve using a small magnifying lens and a light. - Slit-lamp biomicroscopy : An exam of the inside of the eye to check the retina, optic nerve, and other parts of the eye using a strong beam of light and a microscope. - Fluorescein angiography : A procedure to look at blood vessels and the flow of blood inside the eye. An orange fluorescent dye called fluorescein is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any blood vessels that are blocked or leaking. - RB1 gene test: A laboratory test in which a sample of blood or tissue is tested for a change in the RB1 gene. - Ultrasound exam of the eye: A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a picture of the inside of the eye and the distance from the cornea to the retina is measured. The picture, called a sonogram, shows on the screen of the ultrasound monitor. The picture can be printed to be looked at later. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the eye. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the eye, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Retinoblastoma can usually be diagnosed without a biopsy. When retinoblastoma is in one eye, it sometimes forms in the other eye. Exams of the unaffected eye are done until it is known if the retinoblastoma is the heritable form.",CancerGov,Retinoblastoma +What is the outlook for Retinoblastoma ?,"The prognosis (chance of recovery) and treatment options depend on the following: - Whether the cancer is in one or both eyes. - The size and number of tumors. - Whether the tumor has spread to the area around the eye, to the brain, or to other parts of the body. - Whether there are symptoms at the time of diagnosis, for trilateral retinoblastoma. - The age of the child. - How likely it is that vision can be saved in one or both eyes. - Whether a second type of cancer has formed.",CancerGov,Retinoblastoma +What are the stages of Retinoblastoma ?,"Key Points + - After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body. - The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma. - Stage 0 - Stage I - Stage II - Stage III - Stage IV - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye). - Intraocular retinoblastoma - Extraocular retinoblastoma (metastatic) + + + After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body. + The process used to find out if cancer has spread within the eye or to other parts of the body is called staging. The information gathered from the staging process determines whether retinoblastoma is only in the eye (intraocular) or has spread outside the eye (extraocular). It is important to know the stage in order to plan treatment. The results of the tests used to diagnose cancer are often also used to stage the disease. (See the General Information section.) The following tests and procedures may be used in the staging process: - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner that also takes a picture of the body. Areas of bone with cancer show up brighter in the picture because they take up more radioactive material than normal bone cells do. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow under a microscope to look for signs of cancer. A bone marrow aspiration and biopsy is done if the doctor thinks the cancer has spread outside of the eye. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. + + + The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma. + There are several staging systems for retinoblastoma. The IRSS stages are based on how much cancer remains after surgery to remove the tumor and whether the cancer has spread. Stage 0 The tumor is in the eye only. The eye has not been removed and the tumor was treated without surgery. Stage I The tumor is in the eye only. The eye has been removed and no cancer cells remain. Stage II The tumor is in the eye only. The eye has been removed and there are cancer cells left that can be seen only with a microscope. Stage III Stage III is divided into stages IIIa and IIIb: - In stage IIIa, cancer has spread from the eye to tissues around the eye socket. - In stage IIIb, cancer has spread from the eye to lymph nodes near the ear or in the neck. Stage IV Stage IV is divided into stages IVa and IVb: - In stage IVa, cancer has spread to the blood but not to the brain or spinal cord. One or more tumors may have spread to other parts of the body such as the bone or liver. - In stage IVb, cancer has spread to the brain or spinal cord. It also may have spread to other parts of the body. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if retinoblastoma spreads to the bone, the cancer cells in the bone are actually retinoblastoma cells. The disease is metastatic retinoblastoma, not bone cancer. + + + Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye). + Intraocular retinoblastoma In intraocular retinoblastoma, cancer is found in one or both eyes and may be in the retina only or may also be in other parts of the eye such as the choroid, ciliary body, or part of the optic nerve. Cancer has not spread to tissues around the outside of the eye or to other parts of the body. Extraocular retinoblastoma (metastatic) In extraocular retinoblastoma, cancer has spread beyond the eye. It may be found in tissues around the eye (orbital retinoblastoma) or it may have spread to the central nervous system (brain and spinal cord) or to other parts of the body such as the liver, bones, bone marrow, or lymph nodes.",CancerGov,Retinoblastoma +What are the treatments for Retinoblastoma ?,"Key Points + - There are different types of treatment for patients with retinoblastoma. - Children with retinoblastoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for retinoblastoma may cause side effects. - Six types of standard treatment are used: - Cryotherapy - Thermotherapy - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell rescue - Surgery (enucleation) - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with retinoblastoma. + Different types of treatment are available for patients with retinoblastoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with retinoblastoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + The goals of treatment are to save the child's life, to save vision and the eye, and to prevent serious side effects. Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with eye cancer and who specialize in certain areas of medicine. These may include a pediatric ophthalmologist (children's eye doctor) who has a lot of experience in treating retinoblastoma and the following specialists: - Pediatric surgeon. - Radiation oncologist. - Pediatrician. - Pediatric nurse specialist. - Rehabilitation specialist. - Social worker. - Geneticist or genetic counselor. + + + Treatment for retinoblastoma may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of treatment for retinoblastoma may include the following: - Physical problems such as seeing or hearing problems or, if the eye is removed, a change in the shape and size of the bone around the eye. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer), such as lung and bladder cancers, osteosarcoma, soft tissue sarcoma, or melanoma. The following risk factors may increase the risk of having another cancer: - Having the heritable form of retinoblastoma. - Past treatment with radiation therapy, especially before age 1 year. - Having already had a previous second cancer. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. Regular follow-up by health professionals who are experts in diagnosing and treating late effects is important. See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information. + + + Six types of standard treatment are used: + Cryotherapy Cryotherapy is a treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryosurgery. Thermotherapy Thermotherapy is the use of heat to destroy cancer cells. Thermotherapy may be given using a laser beam aimed through the dilated pupil or onto the outside of the eyeball. Thermotherapy may be used alone for small tumors or combined with chemotherapy for larger tumors. This treatment is a type of laser therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. The way the chemotherapy is given depends on the stage of the cancer and where the cancer is in the body. There are different types of chemotherapy: - Systemic chemotherapy: When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body. Systemic chemotherapy is given to shrink the tumor (chemoreduction) and avoid surgery to remove the eye. After chemoreduction, other treatments may include radiation therapy, cryotherapy, laser therapy, or regional chemotherapy. Systemic chemotherapy may also be given to kill any cancer cells that are left after the initial treatment or to patients with retinoblastoma that occurs outside the eye. Treatment given after the initial treatment, to lower the risk that the cancer will come back, is called adjuvant therapy. - Regional chemotherapy: When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal chemotherapy), an organ (such as the eye), or a body cavity, the drugs mainly affect cancer cells in those areas. Several types of regional chemotherapy are used to treat retinoblastoma. - Ophthalmic artery infusion chemotherapy: Ophthalmic artery infusion chemotherapy carries anticancer drugs directly to the eye. A catheter is put into an artery that leads to the eye and the anticancer drug is given through the catheter. After the drug is given, a small balloon may be inserted into the artery to block it and keep most of the anticancer drug trapped near the tumor. This type of chemotherapy may be given as the initial treatment when the tumor is in the eye only or when the tumor has not responded to other types of treatment. Ophthalmic artery infusion chemotherapy is given at special retinoblastoma treatment centers. - Intravitreal chemotherapy: Intravitreal chemotherapy is the injection of anticancer drugs directly into the vitreous humor (jelly-like substance) inside in the eye. It is used to treat cancer that has spread to the vitreous humor and has not responded to treatment or has come back after treatment. See Drugs Approved for Retinoblastoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External-beam radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of radiation therapy include the following: - Intensity-modulated radiation therapy (IMRT): IMRT is a type of 3-dimensional (3-D) external radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. - Proton-beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. This type of internal radiation therapy may include the following: - Plaque radiotherapy: Radioactive seeds are attached to one side of a disk, called a plaque, and placed directly on the outside wall of the eye near the tumor. The side of the plaque with the seeds on it faces the eyeball, aiming radiation at the tumor. The plaque helps protect other nearby tissue from the radiation. The way the radiation therapy is given depends on the type and stage of the cancer being treated and how the cancer responded to other treatments. External and internal radiation therapy are used to treat retinoblastoma. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. See Drugs Approved for Retinoblastoma for more information. Surgery (enucleation) Enucleation is surgery to remove the eye and part of the optic nerve. A sample of the eye tissue that is removed will be checked under a microscope to see if there are any signs that the cancer is likely to spread to other parts of the body. This should be done by an experienced pathologist, who is familiar with retinoblastoma and other diseases of the eye. Enucleation is done if there is little or no chance that vision can be saved and when the tumor is large, did not respond to treatment, or comes back after treatment. The patient will be fitted for an artificial eye. Close follow-up is needed for 2 years or more to check for signs of recurrence in the area around the affected eye and to check the other eye. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Retinoblastoma + + + Treatment of Unilateral, Bilateral, and Cavitary Retinoblastoma + If it is likely that the eye can be saved, treatment may include the following: - Systemic chemotherapy or ophthalmic artery infusion chemotherapy, with or without intravitreal chemotherapy, to shrink the tumor. This may be followed by one or more of the following: - Cryotherapy. - Thermotherapy. - Plaque radiotherapy. - External-beam radiation therapy for bilateral intraocular retinoblastoma that does not respond to other treatments. - A clinical trial of ophthalmic artery infusion for unilateral retinoblastoma that has spread to the vitreous humor. If the tumor is large and it is not likely that the eye can be saved, treatment may include the following: - Surgery (enucleation). After surgery, systemic chemotherapy may be given to lower the risk that the cancer will spread to other parts of the body. When retinoblastoma is in both eyes, the treatment for each eye may be different, depending on the size of the tumor and whether it is likely that the eye can be saved. The dose of systemic chemotherapy is usually based on the eye that has more cancer. Treatment for cavitary retinoblastoma, a type of intraocular retinoblastoma, may include the following: - Systemic chemotherapy or ophthalmic artery infusion chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with intraocular retinoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Treatment of Extraocular Retinoblastoma + Treatment for extraocular retinoblastoma that has spread to the area around the eye may include the following: - Systemic chemotherapy and external-beam radiation therapy. - Systemic chemotherapy followed by surgery (enucleation). External-beam radiation therapy and more chemotherapy may be given after surgery. Treatment for extraocular retinoblastoma that has spread to the brain may include the following: - Systemic or intrathecal chemotherapy. - External-beam radiation therapy to the brain and spinal cord. - Chemotherapy followed by high-dose chemotherapy with stem cell rescue. It is not clear whether treatment with chemotherapy, radiation therapy, or high-dose chemotherapy with stem cell rescue helps patients with extraocular retinoblastoma live longer. For trilateral retinoblastoma, treatment may include the following: - Systemic chemotherapy followed by high-dose chemotherapy with stem cell rescue. - Systemic chemotherapy followed by surgery and external-beam radiation therapy. For retinoblastoma that has spread to other parts of the body, but not the brain, treatment may include the following: - Chemotherapy followed by high-dose chemotherapy with stem cell rescue and external-beam radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extraocular retinoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Treatment of Progressive or Recurrent Retinoblastoma + Treatment of progressive or recurrent intraocular retinoblastoma may include the following: - External-beam radiation therapy or plaque radiotherapy. - Cryotherapy. - Thermotherapy. - Systemic chemotherapy or ophthalmic artery infusion chemotherapy. - Intravitreal chemotherapy. - Surgery (enucleation). Treatment of progressive or recurrent extraocular retinoblastoma may include the following: - Systemic chemotherapy and external-beam radiation therapy for retinoblastoma that comes back after surgery to remove the eye. - Systemic chemotherapy followed by high-dose chemotherapy with stem cell rescue and external-beam radiation therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent retinoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Retinoblastoma +what research (or clinical trials) is being done for Retinoblastoma ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Retinoblastoma +What is (are) Childhood Acute Lymphoblastic Leukemia ?,"Key Points + - Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Past treatment for cancer and certain genetic conditions affect the risk of having childhood ALL. - Signs of childhood ALL include fever and bruising. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). + Childhood acute lymphoblastic leukemia (also called ALL or acute lymphocytic leukemia) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. ALL is the most common type of cancer in children. + + + Leukemia may affect red blood cells, white blood cells, and platelets. + In a healthy child, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - White blood cells that fight infection and disease. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In a child with ALL, too many stem cells become lymphoblasts, B lymphocytes, or T lymphocytes. The cells do not work like normal lymphocytes and are not able to fight infection very well. These cells are cancer (leukemia) cells. Also, as the number of leukemia cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may lead to infection, anemia, and easy bleeding. This summary is about acute lymphoblastic leukemia in children, adolescents, and young adults. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Adult Acute Myeloid Leukemia Treatment - Chronic Myelogenous Leukemia Treatment - Hairy Cell Leukemia Treatment",CancerGov,Childhood Acute Lymphoblastic Leukemia +What are the symptoms of Childhood Acute Lymphoblastic Leukemia ?,"Signs of childhood ALL include fever and bruising. These and other signs and symptoms may be caused by childhood ALL or by other conditions. Check with your child's doctor if your child has any of the following: - Fever. - Easy bruising or bleeding. - Petechiae (flat, pinpoint, dark-red spots under the skin caused by bleeding). - Bone or joint pain. - Painless lumps in the neck, underarm, stomach, or groin. - Pain or feeling of fullness below the ribs. - Weakness, feeling tired, or looking pale. - Loss of appetite.",CancerGov,Childhood Acute Lymphoblastic Leukemia +How to diagnose Childhood Acute Lymphoblastic Leukemia ?,"Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. The following tests and procedures may be used to diagnose childhood ALL and find out if leukemia cells have spread to other parts of the body such as the brain or testicles: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. The following tests are done on blood or the bone marrow tissue that is removed: - Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer) they are checked to see if they are B lymphocytes or T lymphocytes. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. This procedure is done after leukemia is diagnosed to find out if leukemia cells have spread to the brain and spinal cord. Intrathecal chemotherapy is given after the sample of fluid is removed to treat any leukemia cells that may have spread to the brain and spinal cord. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. The chest x-ray is done to see if leukemia cells have formed a mass in the middle of the chest.",CancerGov,Childhood Acute Lymphoblastic Leukemia +What is the outlook for Childhood Acute Lymphoblastic Leukemia ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on: - How quickly and how low the leukemia cell count drops after the first month of treatment. - Age at the time of diagnosis, gender, race, and ethnic background. - The number of white blood cells in the blood at the time of diagnosis. - Whether the leukemia cells began from B lymphocytes or T lymphocytes. - Whether there are certain changes in the chromosomes or genes of the lymphocytes with cancer. - Whether the child has Down syndrome. - Whether leukemia cells are found in the cerebrospinal fluid. - The child's weight at the time of diagnosis and during treatment. Treatment options depend on: - Whether the leukemia cells began from B lymphocytes or T lymphocytes. - Whether the child has standard-risk, high-risk, or very highrisk ALL. - The age of the child at the time of diagnosis. - Whether there are certain changes in the chromosomes of lymphocytes, such as the Philadelphia chromosome. - Whether the child was treated with steroids before the start of induction therapy. - How quickly and how low the leukemia cell count drops during treatment. For leukemia that relapses (comes back) after treatment, the prognosis and treatment options depend partly on the following: - How long it is between the time of diagnosis and when the leukemia comes back. - Whether the leukemia comes back in the bone marrow or in other parts of the body.",CancerGov,Childhood Acute Lymphoblastic Leukemia +what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of childhood ALL that has relapsed (come back) a second time. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Childhood Acute Lymphoblastic Leukemia +Who is at risk for Childhood Acute Lymphoblastic Leukemia? ?,"Key Points + Past treatment for cancer and certain genetic conditions affect the risk of having childhood ALL. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Possible risk factors for ALL include the following: - Being exposed to x-rays before birth. - Being exposed to radiation. - Past treatment with chemotherapy. - Having certain genetic conditions, such as: - Down syndrome. - Neurofibromatosis type 1. - Bloom syndrome. - Fanconi anemia. - Ataxia-telangiectasia. - Li-Fraumeni syndrome. - Constitutional mismatch repair deficiency (mutations in certain genes that stop DNA from repairing itself, which leads to the growth of cancers at an early age). - Having certain changes in the chromosomes or genes. + + + Risk Groups + - In childhood ALL, risk groups are used to plan treatment. - Relapsed childhood ALL is cancer that has come back after it has been treated. + + + + In childhood ALL, risk groups are used to plan treatment. + There are three risk groups in childhood ALL. They are described as: - Standard (low) risk: Includes children aged 1 to younger than 10 years who have a white blood cell count of less than 50,000/L at the time of diagnosis. - High risk: Includes children 10 years and older and/or children who have a white blood cell count of 50,000/L or more at the time of diagnosis. - Very high risk: Includes children younger than age 1, children with certain changes in the genes, children who have a slow response to initial treatment, and children who have signs of leukemia after the first 4 weeks of treatment. Other factors that affect the risk group include the following: - Whether the leukemia cells began from B lymphocytes or T lymphocytes. - Whether there are certain changes in the chromosomes or genes of the lymphocytes. - How quickly and how low the leukemia cell count drops after initial treatment. - Whether leukemia cells are found in the cerebrospinal fluid at the time of diagnosis. It is important to know the risk group in order to plan treatment. Children with high-risk or very highrisk ALL usually receive more anticancer drugs and/or higher doses of anticancer drugs than children with standard-risk ALL. + + + + Relapsed childhood ALL is cancer that has come back after it has been treated. + The leukemia may come back in the blood and bone marrow, brain, spinal cord, testicles, or other parts of the body. Refractory childhood ALL is cancer that does not respond to treatment.",CancerGov,Childhood Acute Lymphoblastic Leukemia +What are the treatments for Childhood Acute Lymphoblastic Leukemia ?,"Key Points + - There are different types of treatment for childhood acute lymphoblastic leukemia (ALL). - Children with ALL should have their treatment planned by a team of doctors who are experts in treating childhood leukemia. - Children and adolescents may have treatment-related side effects that appear months or years after treatment for acute lymphoblastic leukemia. - The treatment of childhood ALL usually has three phases. - Four types of standard treatment are used: - Chemotherapy - Radiation therapy - Chemotherapy with stem cell transplant - Targeted therapy - Treatment is given to kill leukemia cells that have spread or may spread to the brain, spinal cord, or testicles. - New types of treatment are being tested in clinical trials. - Chimeric antigen receptor (CAR) T-cell therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for childhood acute lymphoblastic leukemia (ALL). + Different types of treatment are available for children with acute lymphoblastic leukemia (ALL). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with ALL should have their treatment planned by a team of doctors who are experts in treating childhood leukemia. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health professionals who are experts in treating children with leukemia and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Hematologist. - Medical oncologist. - Pediatric surgeon. - Radiation oncologist. - Neurologist. - Pathologist. - Radiologist. - Pediatric nurse specialist. - Social worker. - Rehabilitation specialist. - Psychologist. - Child-life specialist. + + + Children and adolescents may have treatment-related side effects that appear months or years after treatment for acute lymphoblastic leukemia. + Regular follow-up exams are very important. Treatment can cause side effects long after it has ended. These are called late effects. Late effects of cancer treatment may include: - Physical problems, including problems with the heart, blood vessels, liver, or bones, and fertility. When dexrazoxane is given with chemotherapy drugs called anthracyclines, the risk of late heart effects is lessened. - Changes in mood, feelings, thinking, learning, or memory. Children younger than 4 years who have received radiation therapy to the brain have a higher risk of these effects. - Second cancers (new types of cancer) or other conditions, such as brain tumors, thyroid cancer, acute myeloid leukemia, and myelodysplastic syndrome. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the possible late effects caused by some treatments. See the PDQ summary on Late Effects of Treatment for Childhood Cancer. + + + The treatment of childhood ALL usually has three phases. + The treatment of childhood ALL is done in phases: - Remission induction: This is the first phase of treatment. The goal is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. - Consolidation /intensification: This is the second phase of treatment. It begins once the leukemia is in remission. The goal of consolidation/intensification therapy is to kill any leukemia cells that remain in the body and may cause a relapse. - Maintenance: This is the third phase of treatment. The goal is to kill any remaining leukemia cells that may regrow and cause a relapse. Often the cancer treatments are given in lower doses than those used during the remission induction and consolidation/intensification phases. Not taking medication as ordered by the doctor during maintenance therapy increases the chance the cancer will come back. This is also called the continuation therapy phase. + + + Four types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid (intrathecal), an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the child's risk group. Children with high-risk ALL receive more anticancer drugs and higher doses of anticancer drugs than children with standard-risk ALL. Intrathecal chemotherapy may be used to treat childhood ALL that has spread, or may spread, to the brain and spinal cord. See Drugs Approved for Acute Lymphoblastic Leukemia for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy may be used to treat childhood ALL that has spread, or may spread, to the brain, spinal cord, or testicles. It may also be used to prepare the bone marrow for a stem cell transplant. Chemotherapy with stem cell transplant Stem cell transplant is a method of giving high doses of chemotherapy and sometimes total-body irradiation, and then replacing the blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of a donor. After the patient receives treatment, the donor's stem cells are given to the patient through an infusion. These reinfused stem cells grow into (and restore) the patient's blood cells. The stem cell donor doesn't have to be related to the patient. Stem cell transplant is rarely used as initial treatment for children and adolescents with ALL. It is used more often as part of treatment for ALL that relapses (comes back after treatment). See Drugs Approved for Acute Lymphoblastic Leukemia for more information. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Tyrosine kinase inhibitors (TKIs) are targeted therapy drugs that block the enzyme, tyrosine kinase, which causes stem cells to become more white blood cells or blasts than the body needs. Imatinib mesylate is a TKI used in the treatment of children with Philadelphia chromosome positive ALL. Dasatinib and ruxolitinib are TKIs that are being studied in the treatment of newly diagnosed high-risk ALL. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Blinatumomab and inotuzumab are monoclonal antibodies being studied in the treatment of refractory childhood ALL. New kinds of targeted therapies are also being studied in the treatment of childhood ALL. See Drugs Approved for Acute Lymphoblastic Leukemia for more information. + + + Treatment is given to kill leukemia cells that have spread or may spread to the brain, spinal cord, or testicles. + Treatment to kill leukemia cells or prevent the spread of leukemia cells to the brain and spinal cord (central nervous system; CNS) is called CNS-directed therapy. Chemotherapy may be used to treat leukemia cells that have spread, or may spread, to the brain and spinal cord. Because standard doses of chemotherapy may not reach leukemia cells in the CNS, the cells are able to hide in the CNS. Systemic chemotherapy given in high doses or intrathecal chemotherapy (into the cerebrospinal fluid) is able to reach leukemia cells in the CNS. Sometimes external radiation therapy to the brain is also given. These treatments are given in addition to treatment that is used to kill leukemia cells in the rest of the body. All children with ALL receive CNS-directed therapy as part of induction therapy and consolidation/intensification therapy and sometimes during maintenance therapy. If the leukemia cells spread to the testicles, treatment includes high doses of systemic chemotherapy and sometimes radiation therapy. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of childhood ALL that has relapsed (come back) a second time. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Bone marrow aspiration and biopsy is done during all phases of treatment to see how well the treatment is working. + + + Treatment Options for Childhood Acute Lymphoblastic Leukemia + + + Newly Diagnosed Childhood Acute Lymphoblastic Leukemia (Standard Risk) + The treatment of standard-risk childhood acute lymphoblastic leukemia (ALL) during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. When children are in remission after remission induction therapy, a stem cell transplant using stem cells from a donor may be done. When children are not in remission after remission induction therapy, further treatment is usually the same treatment given to children with high-risk ALL. Intrathecal chemotherapy is given to prevent the spread of leukemia cells to the brain and spinal cord. Treatments being studied in clinical trials for standard-risk ALL include new chemotherapy regimens. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Acute Lymphoblastic Leukemia (High Risk) + The treatment of high-risk childhood acute lymphoblastic leukemia (ALL) during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. Children in the high-risk ALL group are given more anticancer drugs and higher doses of anticancer drugs, especially during the consolidation/intensification phase, than children in the standard-risk group. Intrathecal and systemic chemotherapy are given to prevent or treat the spread of leukemia cells to the brain and spinal cord. Sometimes radiation therapy to the brain is also given. Treatments being studied in clinical trials for high-risk ALL include new chemotherapy regimens with or without targeted therapy or stem cell transplant. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Acute Lymphoblastic Leukemia (Very High Risk) + The treatment of very highrisk childhood acute lymphoblastic leukemia (ALL) during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. Children in the very highrisk ALL group are given more anticancer drugs than children in the high-risk group. It is not clear whether a stem cell transplant during first remission will help the child live longer. Intrathecal and systemic chemotherapy are given to prevent or treat the spread of leukemia cells to the brain and spinal cord. Sometimes radiation therapy to the brain is also given. Treatments being studied in clinical trials for very highrisk ALL include new chemotherapy regimens with or without targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with untreated childhood acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Newly Diagnosed Childhood Acute Lymphoblastic Leukemia (Special Groups) + T-cell childhood acute lymphoblastic leukemia The treatment of T-cell childhood acute lymphoblastic leukemia (ALL) during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. Children with T-cell ALL are given more anticancer drugs and higher doses of anticancer drugs than children in the newly diagnosed standard-risk group. Intrathecal and systemic chemotherapy are given to prevent the spread of leukemia cells to the brain and spinal cord. Sometimes radiation therapy to the brain is also given. Treatments being studied in clinical trials for T-cell ALL include new anticancer agents and chemotherapy regimens with or without targeted therapy. Infants with ALL The treatment of infants with ALL during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. Infants with ALL are given different anticancer drugs and higher doses of anticancer drugs than children 1 year and older in the standard-risk group. It is not clear whether a stem cell transplant during first remission will help the child live longer. Intrathecal and systemic chemotherapy are given to prevent the spread of leukemia cells to the brain and spinal cord. Treatments being studied in clinical trials for infants with ALL include the following: - A clinical trial of chemotherapy followed by a donor stem cell transplant for infants with certain gene changes. Children 10 years and older and adolescents with ALL The treatment of ALL in children and adolescents (10 years and older) during the remission induction, consolidation /intensification, and maintenance phases always includes combination chemotherapy. Children 10 years and older and adolescents with ALL are given more anticancer drugs and higher doses of anticancer drugs than children in the standard-risk group. Intrathecal and systemic chemotherapy are given to prevent the spread of leukemia cells to the brain and spinal cord. Sometimes radiation therapy to the brain is also given. Treatments being studied in clinical trials for children 10 years and older and adolescents with ALL include new anticancer agents and chemotherapy regimens with or without targeted therapy. Philadelphia chromosomepositive ALL The treatment of Philadelphia chromosome positive childhood ALL during the remission induction, consolidation /intensification, and maintenance phases may include the following: - Combination chemotherapy and targeted therapy with a tyrosine kinase inhibitor (imatinib mesylate) with or without a stem cell transplant using stem cells from a donor. Check the list of NCI-supported cancer clinical trials that are now accepting patients with T-cell childhood acute lymphoblastic leukemia and Philadelphia chromosome positive childhood precursor acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Refractory Childhood Acute Lymphoblastic Leukemia + There is no standard treatment for the treatment of refractory childhood acute lymphoblastic leukemia (ALL). Some of the treatments being studied in clinical trials for refractory childhood ALL include: - Targeted therapy (blinatumomab or inotuzumab). - Chimeric antigen receptor (CAR) T-cell therapy. + + + Relapsed Childhood Acute Lymphoblastic Leukemia + Standard treatment of relapsed childhood acute lymphoblastic leukemia (ALL) that comes back in the bone marrow may include the following: - Combination chemotherapy. - Chemotherapy with or without total-body irradiation followed by a stem cell transplant, using stem cells from a donor. Standard treatment of relapsed childhood acute lymphoblastic leukemia (ALL) that comes back outside the bone marrow may include the following: - Systemic chemotherapy and intrathecal chemotherapy with radiation therapy to the brain and/or spinal cord for cancer that comes back in the brain and spinal cord only. - Combination chemotherapy and radiation therapy for cancer that comes back in the testicles only. - Stem cell transplant for cancer that has recurred in the brain and/or spinal cord. Some of the treatments being studied in clinical trials for relapsed childhood ALL include: - New anticancer drugs and new combination chemotherapy treatments. - Combination chemotherapy and new kinds of targeted therapies (blinatumomab or inotuzumab). - Chimeric antigen receptor (CAR) T-cell therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent childhood acute lymphoblastic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Acute Lymphoblastic Leukemia +What is (are) Childhood Liver Cancer ?,"Key Points + - Childhood liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - There are different types of childhood liver cancer. - Certain diseases and disorders can increase the risk of childhood liver cancer. - Signs and symptoms of childhood liver cancer include a lump or pain in the abdomen. - Tests that examine the liver and the blood are used to detect (find) and diagnose childhood liver cancer and find out whether the cancer has spread. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Childhood liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. + The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fats from food. - To store glycogen (sugar), which the body uses for energy. Liver cancer is rare in children and adolescents. + + + There are different types of childhood liver cancer. + There are two main types of childhood liver cancer: - Hepatoblastoma: Hepatoblastoma is the most common type of childhood liver cancer. It usually affects children younger than 3 years of age. In hepatoblastoma, the histology (how the cancer cells look under a microscope) affects the way the cancer is treated. The histology for hepatoblastoma may be one of the following: - Pure fetal histology. - Small cell undifferentiated histology. - Non-pure fetal histology, non-small cell undifferentiated histology. - Hepatocellular carcinoma: Hepatocellular carcinoma usually affects older children and adolescents. It is more common in areas of Asia that have high rates of hepatitis infection than in the U.S. The treatment of two less common types of childhood liver cancer is also discussed in this summary: - Undifferentiated embryonal sarcoma of the liver: This type of liver cancer usually occurs in children between 5 and 10 years of age. It often spreads all through the liver and/or to the lungs. - Infantile choriocarcinoma of the liver is a very rare tumor that starts in the placenta and spreads to the fetus. The tumor is usually found during the first few months of life. Also, the mother of the child may be diagnosed with choriocarcinoma. Choriocarcinoma is a type of gestational trophoblastic disease and needs treatment. See the Gestational Trophoblastic Disease Treatment summary for information on the treatment of choriocarcinoma. This summary is about the treatment of primary liver cancer (cancer that begins in the liver). Treatment of metastatic liver cancer, which is cancer that begins in other parts of the body and spreads to the liver, is not discussed in this summary. Primary liver cancer can occur in both adults and children. However, treatment for children is different than treatment for adults. See the PDQ summary on Adult Primary Liver Cancer Treatment for more information on the treatment of adults.",CancerGov,Childhood Liver Cancer +Who is at risk for Childhood Liver Cancer? ?,"Certain diseases and disorders can increase the risk of childhood liver cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for hepatoblastoma include the following syndromes or conditions: - Aicardi syndrome. - Beckwith-Wiedemann syndrome. - Familial adenomatous polyposis (FAP). - Glycogen storage disease. - A very low weight at birth. - Simpson-Golabi-Behmel syndrome. - Certain genetic changes, such as Trisomy 18. Risk factors for hepatocellular carcinoma include the following syndromes or conditions: - Alagille syndrome. - Glycogen storage disease. - Hepatitis B virus infection that was passed from mother to child at birth. - Progressive familial intrahepatic disease. - Tyrosinemia. Some patients with tyrosinemia or progressive familial intrahepatic disease will have a liver transplant before there are signs or symptoms of cancer.",CancerGov,Childhood Liver Cancer +What are the symptoms of Childhood Liver Cancer ?,Signs and symptoms of childhood liver cancer include a lump or pain in the abdomen. Signs and symptoms are more common after the tumor gets big. Other conditions can cause the same signs and symptoms. Check with your childs doctor if your child has any of the following: - A lump in the abdomen that may be painful. - Swelling in the abdomen. - Weight loss for no known reason. - Loss of appetite. - Nausea and vomiting.,CancerGov,Childhood Liver Cancer +How to diagnose Childhood Liver Cancer ?,"Tests that examine the liver and the blood are used to detect (find) and diagnose childhood liver cancer and find out whether the cancer has spread. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The blood of children who have liver cancer may have increased amounts of a hormone called beta-human chorionic gonadotropin (-hCG) or a protein called alpha-fetoprotein (AFP). Other cancers and certain noncancer conditions, including cirrhosis and hepatitis, can also increase AFP levels. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver damage or cancer. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as bilirubin or lactate dehydrogenase (LDH), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the EBV and DNA markers of the EBV. These are found in the blood of patients who have been infected with EBV. - Hepatitis assay : A procedure in which a blood sample is checked for pieces of the hepatitis virus. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the liver. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. In childhood liver cancer, an ultrasound exam of the abdomen to check the large blood vessels is usually done. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. In childhood liver cancer, a CT scan of the chest and abdomen is usually done. - Abdominal x-ray : An x-ray of the organs in the abdomen. An x-ray is a type of energy beam that can go through the body onto film, making a picture of areas inside the body. - Biopsy : The removal of a sample of cells or tissues so it can be viewed under a microscope to check for signs of cancer. The sample may be taken during surgery to remove or view the tumor. A pathologist looks at the sample under a microscope to find out the type of liver cancer. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test is used to check for a certain gene mutation and to tell the difference between different types of cancer.",CancerGov,Childhood Liver Cancer +What is the outlook for Childhood Liver Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for hepatoblastoma depend on the following: - The PRETEXT or POSTTEXT group. - Whether the cancer has spread to other places in the body, such as the lungs or certain large blood vessels. - Whether the cancer can be removed completely by surgery. - How the cancer responds to chemotherapy. - How the cancer cells look under a microscope. - Whether the AFP blood levels go down after treatment. - Whether the cancer has just been diagnosed or has recurred. - Age of the child. The prognosis (chance of recovery) and treatment options for hepatocellular carcinoma depend on the following: - The PRETEXT or POSTTEXT group. - Whether the cancer has spread to other places in the body, such as the lungs. - Whether the cancer can be removed completely by surgery. - How the cancer responds to chemotherapy. - How the cancer cells look under a microscope. - Whether the child has hepatitis B infection. - Whether the cancer has just been diagnosed or has recurred. For childhood liver cancer that recurs (comes back) after initial treatment, the prognosis and treatment options depend on: - Where in the body the tumor recurred. - The type of treatment used to treat the initial cancer. Childhood liver cancer may be cured if the tumor is small and can be completely removed by surgery. Complete removal is possible more often for hepatoblastoma than for hepatocellular carcinoma.",CancerGov,Childhood Liver Cancer +What are the stages of Childhood Liver Cancer ?,"Key Points + - After childhood liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. - There are two grouping systems for childhood liver cancer. - There are four PRETEXT and POSTTEXT groups: - PRETEXT and POSTTEXT Group I - PRETEXT and POSTTEXT Group II - PRETEXT and POSTTEXT Group III - PRETEXT and POSTTEXT Group IV - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. + + + After childhood liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. + The process used to find out if cancer has spread within the liver, to nearby tissues or organs, or to other parts of the body is called staging. In childhood liver cancer, the PRETEXT and POSTTEXT groups are used instead of stage to plan treatment. The results of the tests and procedures done to detect, diagnose, and find out whether the cancer has spread are used to determine the PRETEXT and POSTTEXT groups. + + + There are two grouping systems for childhood liver cancer. + Two grouping systems are used for childhood liver cancer: - The PRETEXT group describes the tumor before the patient has treatment. - The POSTTEXT group describes the tumor after the patient has treatment. + + + There are four PRETEXT and POSTTEXT groups: + The liver is divided into 4 sections. The PRETEXT and POSTTEXT groups depend on which sections of the liver have cancer. PRETEXT and POSTTEXT Group I In group I, the cancer is found in one section of the liver. Three sections of the liver that are next to each other do not have cancer in them. PRETEXT and POSTTEXT Group II In group II, cancer is found in one or two sections of the liver. Two sections of the liver that are next to each other do not have cancer in them. PRETEXT and POSTTEXT Group III In group III, one of the following is true: - Cancer is found in three sections of the liver and one section does not have cancer. - Cancer is found in two sections of the liver and two sections that are not next to each other do not have cancer in them. PRETEXT and POSTTEXT Group IV In group IV, cancer is found in all four sections of the liver. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if childhood liver cancer spreads to the lung, the cancer cells in the lung are actually liver cancer cells. The disease is metastatic liver cancer, not lung cancer.",CancerGov,Childhood Liver Cancer +What are the treatments for Childhood Liver Cancer ?,"Key Points + - There are different types of treatment for patients with childhood liver cancer. - Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of standard treatment are used: - Surgery - Watchful waiting - Chemotherapy - Radiation therapy - Ablation therapy - Antiviral treatment - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with childhood liver cancer. + Different types of treatments are available for children with liver cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Taking part in a clinical trial should be considered for all children with liver cancer. Some clinical trials are open only to patients who have not started treatment. + + + Children with liver cancer should have their treatment planned by a team of healthcare providers who are experts in treating this rare childhood cancer. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other healthcare providers who are experts in treating children with liver cancer and who specialize in certain areas of medicine. It is especially important to have a pediatric surgeon with experience in liver surgery who can send patients to a liver transplant program if needed. Other specialists may include the following: - Pediatrician. - Radiation oncologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Six types of standard treatment are used: + Surgery When possible, the cancer is removed by surgery. - Partial hepatectomy: Removal of the part of the liver where cancer is found. The part removed may be a wedge of tissue, an entire lobe, or a larger part of the liver, along with a small amount of normal tissue around it. - Total hepatectomy and liver transplant: Removal of the entire liver followed by a transplant of a healthy liver from a donor. A liver transplant may be possible when cancer has not spread beyond the liver and a donated liver can be found. If the patient has to wait for a donated liver, other treatment is given as needed. - Resection of metastases: Surgery to remove cancer that has spread outside of the liver, such as to nearby tissues, the lungs, or the brain. Factors that affect the type of surgery used include the following: - The PRETEXT group and POSTTEXT group. - The size of the primary tumor. - Whether there is more than one tumor in the liver. - Whether the cancer has spread to nearby large blood vessels. - The level of alpha-fetoprotein (AFP) in the blood. - Whether the tumor can be shrunk by chemotherapy so that it can be removed by surgery. - Whether a liver transplant is needed. Chemotherapy is sometimes given before surgery, to shrink the tumor and make it easier to remove. This is called neoadjuvant therapy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Watchful waiting Watchful waiting is closely monitoring a patients condition without giving any treatment until signs or symptoms appear or change. In hepatoblastoma, this treatment is only used for small tumors that have been completely removed by surgery. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Treatment using more than one anticancer drug is called combination chemotherapy. Chemoembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of regional chemotherapy used to treat childhood liver cancer. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. The blockage may be temporary or permanent, depending on the substance used to block the artery. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine. This procedure is also called transarterial chemoembolization or TACE. The way the chemotherapy is given depends on the type of the cancer being treated and the PRETEXT or POSTTEXT group. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of the cancer being treated and the PRETEXT or POSTTEXT group. Radioembolization of the hepatic artery (the main artery that supplies blood to the liver) is a type of internal radiation therapy used to treat hepatocellular carcinoma. A very small amount of a radioactive substance is attached to tiny beads that are injected into the hepatic artery through a catheter (thin tube). The beads are mixed with a substance that blocks the artery, cutting off blood flow to the tumor. Most of the radiation is trapped near the tumor to kill the cancer cells. This is done to relieve symptoms and improve quality of life for children with hepatocellular carcinoma. External radiation therapy is used to treat hepatoblastoma that cannot be removed by surgery or has spread to other parts of the body. Ablation therapy Ablation therapy removes or destroys tissue. Different types of ablation therapy are used for liver cancer: - Radiofrequency ablation: The use of special needles that are inserted directly through the skin or through an incision in the abdomen to reach the tumor. High-energy radio waves heat the needles and tumor which kills cancer cells. Radiofrequency ablation is being used to treat recurrent hepatoblastoma. - Percutaneous ethanol injection: A small needle is used to inject ethanol (pure alcohol) directly into a tumor to kill cancer cells. Several treatments may be needed. Percutaneous ethanol injection is being used to treat recurrent hepatoblastoma. Antiviral treatment Hepatocellular carcinoma that is linked to the hepatitis B virus may be treated with antiviral drugs. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied for the treatment of undifferentiated embryonal sarcoma of the liver and liver cancer that has come back. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the treatment group may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Childhood Liver Cancer + + + Hepatoblastoma + Treatment options for hepatoblastoma that can be removed by surgery at the time of diagnosis may include the following: - Surgery to remove the tumor, followed by watchful waiting or chemotherapy, for hepatoblastoma with pure fetal histology. - Surgery to remove the tumor, with combination chemotherapy given either before surgery, after surgery, or both, for hepatoblastoma that is not pure fetal histology. For hepatoblastoma with small cell undifferentiated histology, aggressive chemotherapy is given. Treatment options for hepatoblastoma that cannot be removed by surgery or is not removed at the time of diagnosis may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor. - Combination chemotherapy followed by a liver transplant. - Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove the tumor. For hepatoblastoma that has spread to other parts of the body at the time of diagnosis, combination chemotherapy is given to shrink the cancer in the liver and cancer that has spread to other parts of the body. After chemotherapy, imaging tests are done to check whether the cancer can be removed by surgery. Treatment options may include the following: - If the cancer in the liver and other parts of the body can be removed, surgery will be done to remove the tumors followed by chemotherapy to kill any cancer cells that may remain. - If the cancer in the liver cannot be removed by surgery but there are no signs of cancer in other parts of the body, the treatment may be a liver transplant. - If the cancer in other parts of the body cannot be removed or a liver transplant is not possible, chemotherapy, chemoembolization of the hepatic artery, or radiation therapy may be given. Treatment options in clinical trials for newly diagnosed hepatoblastoma include: - A clinical trial of new treatment regimens based on how likely it is the cancer will recur after initial treatment. + + + Hepatocellular Carcinoma + Treatment options for hepatocellular carcinoma that can be removed by surgery at the time of diagnosis may include the following: - Surgery alone to remove the tumor. - Surgery to remove the tumor, followed by chemotherapy. - Combination chemotherapy followed by surgery to remove the tumor. Treatment options for hepatocellular carcinoma that cannot be removed by surgery at the time of diagnosis may include the following: - Chemotherapy to shrink the tumor, followed by surgery to completely remove the tumor. - Chemotherapy to shrink the tumor. If surgery to completely remove the tumor is not possible, further treatment may include the following: - Liver transplant. - Chemoembolization of the hepatic artery to shrink the tumor, followed by surgery to remove as much of the tumor as possible or liver transplant. - Chemoembolization of the hepatic artery alone. - Radioembolization of the hepatic artery as palliative therapy to relieve symptoms and improve the quality of life. Treatment for hepatocellular carcinoma that has spread to other parts of the body at the time of diagnosis may include: - Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible from the liver and other places where cancer has spread. Studies have not shown that this treatment works well but some patients may have some benefit. Treatment options for hepatocellular carcinoma related to hepatitis B virus (HBV) infection include: - Surgery to remove the tumor. - Antiviral drugs that treat infection caused by the hepatitis B virus. + + + Undifferentiated Embryonal Sarcoma of the Liver + Treatment options for undifferentiated embryonal sarcoma of the liver (UESL) may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove as much of the tumor as possible. Chemotherapy may also be given after surgery to remove the tumor. - Surgery to remove the tumor followed by chemotherapy. A second surgery may be done to remove tumor that remains, followed by more chemotherapy. - Liver transplant if surgery to remove the tumor is not possible. - A clinical trial of a combination of targeted therapy, chemotherapy and/or radiation therapy before surgery. + + + Infantile Choriocarcinoma of the Liver + Treatment options for choriocarcinoma of the liver in infants may include the following: - Combination chemotherapy to shrink the tumor, followed by surgery to remove the tumor. - Surgery to remove the tumor. + + + Recurrent Childhood Liver Cancer + Treatment of recurrent hepatoblastoma may include the following: - Surgery to remove isolated (single and separate) metastatic tumors with or without chemotherapy. - Combination chemotherapy. - Liver transplant. - Ablation therapy (radiofrequency ablation or percutaneous ethanol injection). - A clinical trial of a new treatment. Treatment of progressive or recurrent hepatocellular carcinoma may include the following: - Chemoembolization of the hepatic artery to shrink the tumor before liver transplant. - Liver transplant. - A clinical trial of a new treatment. + + + Treatment Options in Clinical Trials + Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood liver cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Liver Cancer +what research (or clinical trials) is being done for Childhood Liver Cancer ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied for the treatment of undifferentiated embryonal sarcoma of the liver and liver cancer that has come back. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Treatment Options in Clinical Trials + Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood liver cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Childhood Liver Cancer +What is (are) Skin Cancer ?,"Key Points + - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are different types of cancer that start in the skin. - Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. - Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. - Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. + The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). Skin cancer begins in the epidermis, which is made up of three kinds of cells: - Squamous cells: Thin, flat cells that form the top layer of the epidermis. - Basal cells: Round cells under the squamous cells. - Melanocytes: Cells that make melanin and are found in the lower part of the epidermis. Melanin is the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment and cause the skin to darken. Skin cancer can occur anywhere on the body, but it is most common in skin that is often exposed to sunlight, such as the face, neck, hands, and arms. + + + There are different types of cancer that start in the skin. + The most common types are basal cell carcinoma and squamous cell carcinoma, which are nonmelanoma skin cancers. Nonmelanoma skin cancers rarely spread to other parts of the body. Melanoma is a much rarer type of skin cancer. It is more likely to invade nearby tissues and spread to other parts of the body. Actinic keratosis is a skin condition that sometimes becomes squamous cell carcinoma. This summary is about nonmelanoma skin cancer and actinic keratosis. See the following PDQ summaries for information on melanoma and other kinds of cancer that affect the skin: - Melanoma Treatment - Mycosis Fungoides and the Szary Syndrome Treatment - Kaposi Sarcoma Treatment - Merkel Cell Carcinoma Treatment - Unusual Cancers of Childhood Treatment - Genetics of Skin Cancer + + + Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. + Not all changes in the skin are a sign of nonmelanoma skin cancer or actinic keratosis. Check with your doctor if you notice any changes in your skin. Signs of nonmelanoma skin cancer include the following: - A sore that does not heal. - Areas of the skin that are: - Raised, smooth, shiny, and look pearly. - Firm and look like a scar, and may be white, yellow, or waxy. - Raised, and red or reddish-brown. - Scaly, bleeding or crusty.",CancerGov,Skin Cancer +Who is at risk for Skin Cancer? ?,"Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for basal cell carcinoma and squamous cell carcinoma include the following: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Having certain changes in the genes that are linked to skin cancer. - Being exposed to arsenic.",CancerGov,Skin Cancer +How to diagnose Skin Cancer ?,"Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. - Skin biopsy : All or part of the abnormal-looking growth is cut from the skin and viewed under a microscope by a pathologist to check for signs of cancer. There are four main types of skin biopsies: - Shave biopsy : A sterile razor blade is used to shave-off the abnormal-looking growth. - Punch biopsy : A special instrument called a punch or a trephine is used to remove a circle of tissue from the abnormal-looking growth. - Incisional biopsy : A scalpel is used to remove part of a growth. - Excisional biopsy : A scalpel is used to remove the entire growth.",CancerGov,Skin Cancer +What is the outlook for Skin Cancer ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends mostly on the stage of the cancer and the type of treatment used to remove the cancer. Treatment options depend on the following: - The stage of the cancer (whether it has spread deeper into the skin or to other places in the body). - The type of cancer. - The size of the tumor and what part of the body it affects. - The patients general health.,CancerGov,Skin Cancer +What are the stages of Skin Cancer ?,"Key Points + - After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Staging of nonmelanoma skin cancer depends on whether the tumor has certain ""high-risk"" features and if the tumor is on the eyelid. - The following stages are used for nonmelanoma skin cancer that is not on the eyelid: - Stage 0 (Carcinoma in Situ) - Stage I Stage I nonmelanoma skin cancer. The tumor is no more than 2 centimeters. - Stage II Stage II nonmelanoma skin cancer. The tumor is more than 2 centimeters wide. - Stage III - Stage IV - The following stages are used for nonmelanoma skin cancer on the eyelid: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed: - Basal cell carcinoma - Squamous cell carcinoma - Actinic keratosis + + + After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body. + The process used to find out if cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lymph node biopsy : For squamous cell carcinoma, the lymph nodes may be removed and checked to see if cancer has spread to them. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if skin cancer spreads to the lung, the cancer cells in the lung are actually skin cancer cells. The disease is metastatic skin cancer, not lung cancer. + + + Staging of nonmelanoma skin cancer depends on whether the tumor has certain ""high-risk"" features and if the tumor is on the eyelid. + Staging for nonmelanoma skin cancer that is on the eyelid is different from staging for nonmelanoma skin cancer that affects other parts of the body. The following are high-risk features for nonmelanoma skin cancer that is not on the eyelid: - The tumor is thicker than 2 millimeters. - The tumor is described as Clark level IV (has spread into the lower layer of the dermis) or Clark level V (has spread into the layer of fat below the skin). - The tumor has grown and spread along nerve pathways. - The tumor began on an ear or on a lip that has hair on it. - The tumor has cells that look very different from normal cells under a microscope. + + + The following stages are used for nonmelanoma skin cancer that is not on the eyelid: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the squamous cell or basal cell layer of the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed. The tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature. Stage II In stage II, the tumor is either: - larger than 2 centimeters at its widest point; or - any size and has two or more high-risk features. Stage III In stage III: - The tumor has spread to the jaw, eye socket, or side of the skull. Cancer may have spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters. or - Cancer has spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters and one of the following is true: - the tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature; or - the tumor is larger than 2 centimeters at its widest point; or - the tumor is any size and has two or more high-risk features. Stage IV In stage IV, one of the following is true: - The tumor is any size and may have spread to the jaw, eye socket, or side of the skull. Cancer has spread to one lymph node on the same side of the body as the tumor and the affected node is larger than 3 centimeters but not larger than 6 centimeters, or cancer has spread to more than one lymph node on one or both sides of the body and the affected nodes are not larger than 6 centimeters; or - The tumor is any size and may have spread to the jaw, eye socket, skull, spine, or ribs. Cancer has spread to one lymph node that is larger than 6 centimeters; or - The tumor is any size and has spread to the base of the skull, spine, or ribs. Cancer may have spread to the lymph nodes; or - Cancer has spread to other parts of the body, such as the lung. + + + The following stages are used for nonmelanoma skin cancer on the eyelid: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I Stage I is divided into stages IA, IB, and IC. - Stage IA: The tumor is 5 millimeters or smaller and has not spread to the connective tissue of the eyelid or to the edge of the eyelid where the lashes are. - Stage IB: The tumor is larger than 5 millimeters but not larger than 10 millimeters or has spread to the connective tissue of the eyelid, or to the edge of the eyelid where the lashes are. - Stage IC: The tumor is larger than 10 millimeters but not larger than 20 millimeters or has spread through the full thickness of the eyelid. Stage II In stage II, one of the following is true: - The tumor is larger than 20 millimeters. - The tumor has spread to nearby parts of the eye or eye socket. - The tumor has spread to spaces around the nerves in the eyelid. Stage III Stage III is divided into stages IIIA, IIIB, and IIIC. - Stage IIIA: To remove all of the tumor, the whole eye and part of the optic nerve must be removed. The bone, muscles, fat, and connective tissue around the eye may also be removed. - Stage IIIB: The tumor may be anywhere in or near the eye and has spread to nearby lymph nodes. - Stage IIIC: The tumor has spread to structures around the eye or in the face, or to the brain, and cannot be removed in surgery. Stage IV The tumor has spread to distant parts of the body. + + + Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed: + Basal cell carcinoma Basal cell carcinoma is the most common type of skin cancer. It usually occurs on areas of the skin that have been in the sun, most often the nose. Often this cancer appears as a raised bump that looks smooth and pearly. Another type looks like a scar and is flat and firm and may be white, yellow, or waxy. Basal cell carcinoma may spread to tissues around the cancer, but it usually does not spread to other parts of the body. Squamous cell carcinoma Squamous cell carcinoma occurs on areas of the skin that have been in the sun, such as the ears, lower lip, and the back of the hands. Squamous cell carcinoma may also appear on areas of the skin that have been burned or exposed to chemicals or radiation. Often this cancer appears as a firm red bump. The tumor may feel scaly, bleed, or form a crust. Squamous cell tumors may spread to nearby lymph nodes. Squamous cell carcinoma that has not spread can usually be cured. Actinic keratosis Actinic keratosis is a skin condition that is not cancer, but sometimes changes into squamous cell carcinoma. It usually occurs in areas that have been exposed to the sun, such as the face, the back of the hands, and the lower lip. It looks like rough, red, pink, or brown scaly patches on the skin that may be flat or raised, or the lower lip cracks and peels and is not helped by lip balm or petroleum jelly.",CancerGov,Skin Cancer +What are the treatments for Skin Cancer ?,"Key Points + - There are different types of treatment for patients with nonmelanoma skin cancer and actinic keratosis. - Six types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Photodynamic therapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Treatment for skin cancer may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with nonmelanoma skin cancer and actinic keratosis. + Different types of treatment are available for patients with nonmelanoma skin cancer and actinic keratosis. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Six types of standard treatment are used: + Surgery One or more of the following surgical procedures may be used to treat nonmelanoma skin cancer or actinic keratosis: - Mohs micrographic surgery: The tumor is cut from the skin in thin layers. During surgery, the edges of the tumor and each layer of tumor removed are viewed through a microscope to check for cancer cells. Layers continue to be removed until no more cancer cells are seen. This type of surgery removes as little normal tissue as possible and is often used to remove skin cancer on the face. - Simple excision: The tumor is cut from the skin along with some of the normal skin around it. - Shave excision: The abnormal area is shaved off the surface of the skin with a small blade. - Electrodesiccation and curettage: The tumor is cut from the skin with a curette (a sharp, spoon-shaped tool). A needle-shaped electrode is then used to treat the area with an electric current that stops the bleeding and destroys cancer cells that remain around the edge of the wound. The process may be repeated one to three times during the surgery to remove all of the cancer. - Cryosurgery: A treatment that uses an instrument to freeze and destroy abnormal tissue, such as carcinoma in situ. This type of treatment is also called cryotherapy. - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor. - Dermabrasion: Removal of the top layer of skin using a rotating wheel or small particles to rub away skin cells. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat skin cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemotherapy for nonmelanoma skin cancer and actinic keratosis is usually topical (applied to the skin in a cream or lotion). The way the chemotherapy is given depends on the condition being treated. Retinoids (drugs related to vitamin A) are sometimes used to treat squamous cell carcinoma of the skin. See Drugs Approved for Basal Cell Carcinoma for more information. Photodynamic therapy Photodynamic therapy (PDT) is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. For skin cancer, laser light is shined onto the skin and the drug becomes active and kills the cancer cells. Photodynamic therapy causes little damage to healthy tissue. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon and imiquimod are biologic agents used to treat skin cancer. Interferon (by injection) may be used to treat squamous cell carcinoma of the skin. Topical imiquimod therapy (a cream applied to the skin) may be used to treat some small basal cell carcinomas. See Drugs Approved for Basal Cell Carcinoma for more information. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy with a signal transduction inhibitor is used to treat basal cell carcinoma. Signal transduction inhibitors block signals that are passed from one molecule to another inside a cell. Blocking these signals may kill cancer cells. Vismodegib and sonidegib are signal transduction inhibitors used to treat basal cell carcinoma. See Drugs Approved for Basal Cell Carcinoma for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Treatment for skin cancer may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Basal cell carcinoma and squamous cell carcinoma are likely to recur (come back), usually within 5 years, or new tumors may form. Talk to your doctor about how often you should have your skin checked for signs of cancer. + + + Treatment Options for Nonmelanoma Skin Cancer + + + Basal Cell Carcinoma + Treatment of basal cell carcinoma may include the following: - Simple excision. - Mohs micrographic surgery. - Radiation therapy. - Electrodesiccation and curettage. - Cryosurgery. - Photodynamic therapy. - Topical chemotherapy. - Topical biologic therapy with imiquimod. - Laser surgery. Treatment of recurrent basal cell carcinoma is usually Mohs micrographic surgery. Treatment of basal cell carcinoma that is metastatic or cannot be treated with local therapy may include the following: - Targeted therapy with a signal transduction inhibitor. - Chemotherapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with basal cell carcinoma of the skin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Squamous Cell Carcinoma + Treatment of squamous cell carcinoma may include the following: - Simple excision. - Mohs micrographic surgery. - Radiation therapy. - Electrodesiccation and curettage. - Cryosurgery. Treatment of recurrent squamous cell carcinoma may include the following: - Simple excision. - Mohs micrographic surgery. - Radiation therapy. Treatment of squamous cell carcinoma that is metastatic or cannot be treated with local therapy may include the following: - Chemotherapy. - Retinoid therapy and biologic therapy with interferon. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with squamous cell carcinoma of the skin. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Skin Cancer +what research (or clinical trials) is being done for Skin Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Treatment for skin cancer may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Skin Cancer +What is (are) Endometrial Cancer ?,"Key Points + - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Obesity and having metabolic syndrome may increase the risk of endometrial cancer. - Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. - Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. - Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. + The endometrium is the lining of the uterus, a hollow, muscular organ in a womans pelvis. The uterus is where a fetus grows. In most nonpregnant women, the uterus is about 3 inches long. The lower, narrow end of the uterus is the cervix, which leads to the vagina. Cancer of the endometrium is different from cancer of the muscle of the uterus, which is called sarcoma of the uterus. See the PDQ summary on Uterine Sarcoma Treatment for more information about uterine sarcoma. + + + Obesity and having metabolic syndrome may increase the risk of endometrial cancer. + Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for endometrial cancer include the following: - Having endometrial hyperplasia. - Being obese. - Having metabolic syndrome, a set of conditions that occur together, including extra fat around the abdomen, high blood sugar, high blood pressure, high levels of triglycerides and low levels of high-density lipoproteins in the blood. - Never giving birth. - Beginning menstruation at an early age. - Reaching menopause at an older age. - Having polycystic ovarian syndrome (PCOS). - Having a mother, sister, or daughter with uterine cancer. - Having a certain gene change that is linked to Lynch syndrome (hereditary non-polyposis colon cancer). - Having hyperinsulinemia (high levels of insulin in the blood). + + + Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. + Endometrial cancer may develop in breast cancer patients who have been treated with tamoxifen. A patient who takes this drug and has abnormal vaginal bleeding should have a follow-up exam and a biopsy of the endometrial lining if needed. Women taking estrogen (a hormone that can affect the growth of some cancers) alone also have an increased risk of endometrial cancer. Taking estrogen combined with progesterone (another hormone) does not increase a womans risk of endometrial cancer.",CancerGov,Endometrial Cancer +Who is at risk for Endometrial Cancer? ?,"Obesity and having metabolic syndrome may increase the risk of endometrial cancer. + Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for endometrial cancer include the following: - Having endometrial hyperplasia. - Being obese. - Having metabolic syndrome, a set of conditions that occur together, including extra fat around the abdomen, high blood sugar, high blood pressure, high levels of triglycerides and low levels of high-density lipoproteins in the blood. - Never giving birth. - Beginning menstruation at an early age. - Reaching menopause at an older age. - Having polycystic ovarian syndrome (PCOS). - Having a mother, sister, or daughter with uterine cancer. - Having a certain gene change that is linked to Lynch syndrome (hereditary non-polyposis colon cancer). - Having hyperinsulinemia (high levels of insulin in the blood). + + + Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. + Endometrial cancer may develop in breast cancer patients who have been treated with tamoxifen. A patient who takes this drug and has abnormal vaginal bleeding should have a follow-up exam and a biopsy of the endometrial lining if needed. Women taking estrogen (a hormone that can affect the growth of some cancers) alone also have an increased risk of endometrial cancer. Taking estrogen combined with progesterone (another hormone) does not increase a womans risk of endometrial cancer.",CancerGov,Endometrial Cancer +What are the symptoms of Endometrial Cancer ?,Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. These and other signs and symptoms may be caused by endometrial cancer or by other conditions. Check with your doctor if you have any of the following: - Vaginal bleeding or discharge not related to menstruation (periods). - Vaginal bleeding after menopause. - Difficult or painful urination. - Pain during sexual intercourse. - Pain in the pelvic area.,CancerGov,Endometrial Cancer +How to diagnose Endometrial Cancer ?,"Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. Because endometrial cancer begins inside the uterus, it does not usually show up in the results of a Pap test. For this reason, a sample of endometrial tissue must be removed and checked under a microscope to look for cancer cells. One of the following procedures may be used: - Endometrial biopsy : The removal of tissue from the endometrium (inner lining of the uterus) by inserting a thin, flexible tube through the cervix and into the uterus. The tube is used to gently scrape a small amount of tissue from the endometrium and then remove the tissue samples. A pathologist views the tissue under a microscope to look for cancer cells. - Dilatation and curettage : A procedure to remove samples of tissue from the inner lining of the uterus. The cervix is dilated and a curette (spoon-shaped instrument) is inserted into the uterus to remove tissue. The tissue samples are checked under a microscope for signs of disease. This procedure is also called a D&C. - Hysteroscopy: A procedure to look inside the uterus for abnormal areas. A hysteroscope is inserted through the vagina and cervix into the uterus. A hysteroscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. Other tests and procedures used to diagnose endometrial cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram.",CancerGov,Endometrial Cancer +What is the outlook for Endometrial Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the cancer cells look under a microscope. - Whether the cancer cells are affected by progesterone. Endometrial cancer can usually be cured because it is usually diagnosed early.",CancerGov,Endometrial Cancer +What are the stages of Endometrial Cancer ?,"Key Points + - After endometrial cancer has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for endometrial cancer: - Stage I - Stage II - Stage III - Stage IV - Endometrial cancer may be grouped for treatment as follows: - Low-risk endometrial cancer - High-risk endometrial cancer + + + After endometrial cancer has been diagnosed, tests are done to find out if cancer cells have spread within the uterus or to other parts of the body. + The process used to find out whether the cancer has spread within the uterus or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Certain tests and procedures are used in the staging process. A hysterectomy (an operation in which the uterus is removed) will usually be done to treat endometrial cancer. Tissue samples are taken from the area around the uterus and checked under a microscope for signs of cancer to help find out whether the cancer has spread. The following procedures may be used in the staging process: - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Lymph node dissection : A surgical procedure in which the lymph nodes are removed from the pelvic area and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called lymphadenectomy. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if endometrial cancer spreads to the lung, the cancer cells in the lung are actually endometrial cancer cells. The disease is metastatic endometrial cancer, not lung cancer. + + + The following stages are used for endometrial cancer: + Stage I In stage I, cancer is found in the uterus only. Stage I is divided into stages IA and IB, based on how far the cancer has spread. - Stage IA: Cancer is in the endometrium only or less than halfway through the myometrium (muscle layer of the uterus). - Stage IB: Cancer has spread halfway or more into the myometrium. Stage II In stage II, cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. Stage III In stage III, cancer has spread beyond the uterus and cervix, but has not spread beyond the pelvis. Stage III is divided into stages IIIA, IIIB, and IIIC, based on how far the cancer has spread within the pelvis. - Stage IIIA: Cancer has spread to the outer layer of the uterus and/or to the fallopian tubes, ovaries, and ligaments of the uterus. - Stage IIIB: Cancer has spread to the vagina and/or to the parametrium (connective tissue and fat around the uterus). - Stage IIIC: Cancer has spread to lymph nodes in the pelvis and/or around the aorta (largest artery in the body, which carries blood away from the heart). Stage IV In stage IV, cancer has spread beyond the pelvis. Stage IV is divided into stages IVA and IVB, based on how far the cancer has spread. - Stage IVA: Cancer has spread to the bladder and/or bowel wall. - Stage IVB: Cancer has spread to other parts of the body beyond the pelvis, including the abdomen and/or lymph nodes in the groin. + + + Endometrial cancer may be grouped for treatment as follows: + Low-risk endometrial cancer Grades 1 and 2 tumors are usually considered low-risk. They usually do not spread to other parts of the body. High-risk endometrial cancer Grade 3 tumors are considered high-risk. They often spread to other parts of the body. Uterine papillary serous, clear cell, and carcinosarcoma are three subtypes of endometrial cancer that are considered grade 3.",CancerGov,Endometrial Cancer +What are the treatments for Endometrial Cancer ?,"Key Points + - There are different types of treatment for patients with endometrial cancer. - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Hormone therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with endometrial cancer. + Different types of treatment are available for patients with endometrial cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is the most common treatment for endometrial cancer. The following surgical procedures may be used: - Total hysterectomy: Surgery to remove the uterus, including the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy. - Bilateral salpingo-oophorectomy: Surgery to remove both ovaries and both fallopian tubes. - Radical hysterectomy: Surgery to remove the uterus, cervix, and part of the vagina. The ovaries, fallopian tubes, or nearby lymph nodes may also be removed. - Lymph node dissection: A surgical procedure in which the lymph nodes are removed from the pelvic area and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called lymphadenectomy. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy or hormone treatment after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat endometrial cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Hormone therapy Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working. + + + Targeted therapy + Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibodies, mTOR inhibitors, and signal transduction inhibitors are three types of targeted therapy used to treat endometrial cancer. - Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Bevacizumab is used to treat stage III, stage IV, and recurrent endometrial cancer. - mTOR inhibitors block a protein called mTOR, which helps control cell division. mTOR inhibitors may keep cancer cells from growing and prevent the growth of new blood vessels that tumors need to grow. Everolimus and ridaforalimus are used to treat stage III, stage IV, and recurrent endometrial cancer. - Signal transduction inhibitors block signals that are passed from one molecule to another inside a cell. Blocking these signals may kill cancer cells. Metformin is being studied to treat stage III, stage IV, and recurrent endometrial cancer. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I and Stage II Endometrial Cancer + Low-risk endometrial cancer (grade 1 or grade 2) Treatment of low-risk stage I endometrial cancer and stage II endometrial cancer may include the following: - Surgery (total hysterectomy and bilateral salpingo-oophorectomy). Lymph nodes in the pelvis and abdomen may also be removed and viewed under a microscope to check for cancer cells. - Surgery (total hysterectomy and bilateral salpingo-oophorectomy, with or without removal of lymph nodes in the pelvis and abdomen) followed by internal radiation therapy. In certain cases, external radiation therapy to the pelvis may be used in place of internal radiation therapy. - Radiation therapy alone for patients who cannot have surgery. - A clinical trial of a new chemotherapy regimen. If cancer has spread to the cervix, a radical hysterectomy with bilateral salpingo-oophorectomy may be done. High-risk endometrial cancer (grade 3) Treatment of high-risk stage I endometrial cancer and stage II endometrial cancer may include the following: - Surgery (radical hysterectomy and bilateral salpingo-oophorectomy). Lymph nodes in the pelvis and abdomen may also be removed and viewed under a microscope to check for cancer cells. - Surgery (radical hysterectomy and bilateral salpingo-oophorectomy) followed by chemotherapy and sometimes radiation therapy. - A clinical trial of a new chemotherapy regimen. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I endometrial carcinoma and stage II endometrial carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III, Stage IV, and Recurrent Endometrial Cancer + Treatment of stage III endometrial cancer, stage IV endometrial cancer, and recurrent endometrial cancer may include the following: - Surgery (radical hysterectomy and removal of lymph nodes in the pelvis so they can be viewed under a microscope to check for cancer cells) followed by adjuvant chemotherapy and/or radiation therapy. - Chemotherapy and internal and external radiation therapy for patients who cannot have surgery. - Hormone therapy for patients who cannot have surgery or radiation therapy. - Targeted therapy with mTOR inhibitors (everolimus or ridaforolimus) or a monoclonal antibody (bevacizumab). - A clinical trial of a new treatment regimen that may include combination chemotherapy, targeted therapy, such as an mTOR inhibitor (everolimus) or signal transduction inhibitor (metformin), and/or hormone therapy, for patients with advanced or recurrent endometrial cancer. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III endometrial carcinoma, stage IV endometrial carcinoma and recurrent endometrial carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Endometrial Cancer +what research (or clinical trials) is being done for Endometrial Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Endometrial Cancer +What is (are) Endometrial Cancer ?,"Key Points + - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - In the United States, endometrial cancer is the most common invasive cancer of the female reproductive system. - Health history and certain medicines can affect the risk of developing endometrial cancer. + + + Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. + The endometrium is the innermost lining of the uterus. The uterus is a hollow, muscular organ in a woman's pelvis. The uterus is where a fetus grows. In most nonpregnant women, the uterus is about 3 inches long. Cancer of the endometrium is different from cancer of the muscle of the uterus, which is called uterine sarcoma. See the PDQ summary on Uterine Sarcoma Treatment for more information. See the following PDQ summaries for more information about endometrial cancer: - Endometrial Cancer Treatment - Endometrial Cancer Prevention + + + In the United States, endometrial cancer is the most common invasive cancer of the female reproductive system. + Endometrial cancer is diagnosed most often in postmenopausal women at an average age of 60 years. From 2004 to 2013, the number of new cases of endometrial cancer increased slightly in white and black women. From 2005 to 2014, the number of deaths from endometrial cancer increased slightly in white and black women. When endometrial cancer is diagnosed in black women, it is usually more advanced and less likely to be cured.",CancerGov,Endometrial Cancer +Who is at risk for Endometrial Cancer? ?,Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for endometrial cancer include the following: - Taking tamoxifen for treatment or prevention of breast cancer. - Taking estrogen alone. (Taking estrogen in combination with progestin does not appear to increase the risk of endometrial cancer.) - Being overweight. - Eating a high-fat diet. - Never giving birth. - Beginning menstruation at an early age. - Reaching menopause at an older age. - Having the gene for hereditary non-polyposis colon cancer (HNPCC). - Being white.,CancerGov,Endometrial Cancer +What is (are) Mycosis Fungoides and the Szary Syndrome ?,"Key Points + - Mycosis fungoides and the Szary syndrome are diseases in which lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. - Mycosis fungoides and the Szary syndrome are types of cutaneous T-cell lymphoma. - A sign of mycosis fungoides is a red rash on the skin. - In the Szary syndrome, cancerous T-cells are found in the blood. - Tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Szary syndrome. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Mycosis fungoides and the Szary syndrome are diseases in which lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood stem cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes a red blood cell, white blood cell, or platelet. A lymphoid stem cell becomes a lymphoblast and then one of three types of lymphocytes (white blood cells): - B-cell lymphocytes that make antibodies to help fight infection. - T-cell lymphocytes that help B-lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In mycosis fungoides, T-cell lymphocytes become cancerous and affect the skin. In the Szary syndrome, cancerous T-cell lymphocytes affect the skin and are in the blood. + + + Mycosis fungoides and the Szary syndrome are types of cutaneous T-cell lymphoma. + Mycosis fungoides and the Szary syndrome are the two most common types of cutaneous T-cell lymphoma (a type of non-Hodgkin lymphoma). For information about other types of skin cancer or non-Hodgkin lymphoma, see the following PDQ summaries: - Adult Non-Hodgkin Lymphoma Treatment - Skin Cancer Treatment - Melanoma Treatment - Kaposi Sarcoma Treatment + + + + In the Szary syndrome, cancerous T-cells are found in the blood. + Also, skin all over the body is reddened, itchy, peeling, and painful. There may also be patches, plaques, or tumors on the skin. It is not known if the Szary syndrome is an advanced form of mycosis fungoides or a separate disease.",CancerGov,Mycosis Fungoides and the Szary Syndrome +What are the symptoms of Mycosis Fungoides and the Szary Syndrome ?,"A sign of mycosis fungoides is a red rash on the skin. Mycosis fungoides may go through the following phases: - Premycotic phase: A scaly, red rash in areas of the body that usually are not exposed to the sun. This rash does not cause symptoms and may last for months or years. It is hard to diagnose the rash as mycosis fungoides during this phase. - Patch phase: Thin, reddened, eczema -like rash. - Plaque phase: Small raised bumps (papules) or hardened lesions on the skin, which may be reddened. - Tumor phase: Tumors form on the skin. These tumors may develop ulcers and the skin may get infected. Check with your doctor if you have any of these signs.",CancerGov,Mycosis Fungoides and the Szary Syndrome +How to diagnose Mycosis Fungoides and the Szary Syndrome ?,"Tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Szary syndrome. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps, the number and type of skin lesions, or anything else that seems unusual. Pictures of the skin and a history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is viewed under a microscope to count different circulating blood cells (red blood cells, white blood cells, platelets, etc.) and see whether the cells look normal. - Skin biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. The doctor may remove a growth from the skin, which will be examined by a pathologist. More than one skin biopsy may be needed to diagnose mycosis fungoides. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process may include special staining of the blood cells. It is used to diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system. - T-cell receptor (TCR) gene rearrangement test: A laboratory test in which cells in a sample of tissue are checked to see if there is a certain change in the genes. This gene change can lead to too many of one kind of T-cells (white blood cells that fight infection) to be made. - Flow cytometry : A laboratory test that measures the number of cells in a sample of blood, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.",CancerGov,Mycosis Fungoides and the Szary Syndrome +What is the outlook for Mycosis Fungoides and the Szary Syndrome ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of lesion (patches, plaques, or tumors). Mycosis fungoides and the Szary syndrome are hard to cure. Treatment is usually palliative, to relieve symptoms and improve the quality of life. Patients with early stage disease may live many years.",CancerGov,Mycosis Fungoides and the Szary Syndrome +what research (or clinical trials) is being done for Mycosis Fungoides and the Szary Syndrome ?,"Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Mycosis Fungoides and the Szary Syndrome +What are the stages of Mycosis Fungoides and the Szary Syndrome ?,"Key Points + - After mycosis fungoides and the Szary syndrome have been diagnosed, tests are done to find out if cancer cells have spread from the skin to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for mycosis fungoides and the Szary syndrome: - Stage I Mycosis Fungoides - Stage II Mycosis Fungoides - Stage III Mycosis Fungoides - Stage IV Mycosis Fungoides - Stage IV Szary Syndrome + + + After mycosis fungoides and the Szary syndrome have been diagnosed, tests are done to find out if cancer cells have spread from the skin to other parts of the body. + The process used to find out if cancer has spread from the skin to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lymph nodes, chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if mycosis fungoides spreads to the liver, the cancer cells in the liver are actually mycosis fungoides cells. The disease is metastatic mycosis fungoides, not liver cancer. + + + The following stages are used for mycosis fungoides and the Szary syndrome: + Stage I Mycosis Fungoides Stage I is divided into stage IA and stage IB as follows: - Stage IA: Less than 10% of the skin surface is covered with patches, papules, and/or plaques. - Stage IB: Ten percent or more of the skin surface is covered with patches, papules, and/or plaques. There may be abnormal lymphocytes in the blood but they are not cancerous. Stage II Mycosis Fungoides Stage II is divided into stage IIA and stage IIB as follows: - Stage IIA: Any amount of the skin surface is covered with patches, papules, and/or plaques. Lymph nodes are enlarged but cancer has not spread to them. - Stage IIB: One or more tumors that are 1 centimeter or larger are found on the skin. Lymph nodes may be enlarged but cancer has not spread to them. There may be abnormal lymphocytes in the blood but they are not cancerous. Stage III Mycosis Fungoides In stage III, nearly all of the skin is reddened and may have patches, papules, plaques, or tumors. Lymph nodes may be enlarged but cancer has not spread to them. There may be abnormal lymphocytes in the blood but they are not cancerous. Stage IV Mycosis Fungoides Stage IV is divided into stage IVA and stage IVB as follows: - Stage IVA: Most of the skin is reddened and any amount of the skin surface is covered with patches, papules, plaques, or tumors, and either: - cancer has spread to lymph nodes and there may be cancerous lymphocytes in the blood; or - there are cancerous lymphocytes in the blood and lymph nodes may be enlarged, but cancer has not spread to them. - Stage IVB: Most of the skin is reddened and any amount of the skin surface is covered with patches, papules, plaques, or tumors. Cancer has spread to other organs in the body. Lymph nodes may be enlarged and cancer may have spread to them. There may be cancerous lymphocytes in the blood. Stage IV Szary Syndrome In stage IV: - Most of the skin is reddened and covered with patches, papules, plaques, or tumors; and - There is a high level of cancerous lymphocytes in the blood; and - Lymph nodes may be enlarged and cancer may have spread to them.",CancerGov,Mycosis Fungoides and the Szary Syndrome +What are the treatments for Mycosis Fungoides and the Szary Syndrome ?,"Key Points + - There are different types of treatment for patients with mycosis fungoides and the Szary syndrome cancer. - Six types of standard treatment are used: - Photodynamic therapy - Radiation therapy - Chemotherapy - Other drug therapy - Biologic therapy - Targeted therapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy and radiation therapy with stem cell transplant - Treatment for mycosis fungoides and the Szary syndrome may cause side effects. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with mycosis fungoides and the Szary syndrome cancer. + Different types of treatment are available for patients with mycosis fungoides and the Szary syndrome. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Six types of standard treatment are used: + Photodynamic therapy Photodynamic therapy is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. For skin cancer, laser light is shined onto the skin and the drug becomes active and kills the cancer cells. Photodynamic therapy causes little damage to healthy tissue. Patients undergoing photodynamic therapy will need to limit the amount of time spent in sunlight. In one type of photodynamic therapy, called psoralen and ultraviolet A (PUVA) therapy, the patient receives a drug called psoralen and then ultraviolet radiation is directed to the skin. In another type of photodynamic therapy, called extracorporeal photochemotherapy, the patient is given drugs and then some blood cells are taken from the body, put under a special ultraviolet A light, and put back into the body. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat mycosis fungoides and the Szary syndrome, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Sometimes, total skin electron beam (TSEB) radiation therapy is used to treat mycosis fungoides and the Szary syndrome. This is a type of external radiation treatment in which a radiation therapy machine aims electrons (tiny, invisible particles) at the skin covering the whole body. Ultraviolet B (UVB) radiation therapy uses a special lamp or laser that directs UVB radiation at the skin. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Sometimes the chemotherapy is topical (put on the skin in a cream, lotion, or ointment). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Non-Hodgkin Lymphoma for more information. (Mycosis fungoides and the Szary syndrome are types of non-Hodgkin lymphoma.) Other drug therapy Topical corticosteroids are used to relieve red, swollen, and inflamed skin. They are a type of steroid. Topical corticosteroids may be in a cream, lotion, or ointment. Retinoids, such as bexarotene, are drugs related to vitamin A that can slow the growth of certain types of cancer cells. The retinoids may be taken by mouth or put on the skin. See Drugs Approved for Non-Hodgkin Lymphoma for more information. (Mycosis fungoides and the Szary syndrome are types of non-Hodgkin lymphoma.) Biologic therapy Biologic therapy is a treatment that uses the patient's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon is a type of biologic therapy used to treat mycosis fungoides and the Szary syndrome. It interferes with the division of cancer cells and can slow tumor growth. See Drugs Approved for Non-Hodgkin Lymphoma for more information. (Mycosis fungoides and the Szary syndrome are types of non-Hodgkin lymphoma.) Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy and other types of targeted therapies are used to treat mycosis fungoides and the Szary syndrome. Alemtuzumab is a monoclonal antibody used to treat mycosis fungoides and the Szary syndrome. Monoclonal antibody therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Other types of monoclonal antibody therapy are being studied in clinical trials to treat mycosis fungoides and the Szary syndrome. Vorinostat and romidepsin are two of the histone deacetylase (HDAC) inhibitors used to treat mycosis fungoides and the Szary syndrome. HDAC inhibitors cause a chemical change that stops tumor cells from dividing. Pralatrexate is a dihydrofolate reductase (DHFR) inhibitor used to treat mycosis fungoides and the Szary syndrome. It builds up in cancer cells and stops them from using folate, a nutrient needed for cells to divide. Pralatrexate may slow the growth of tumors and kill cancer cells. See Drugs Approved for Non-Hodgkin Lymphoma for more information. (Mycosis fungoides and the Szary syndrome are types of non-Hodgkin lymphoma.) + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy and radiation therapy with stem cell transplant This treatment is a method of giving high doses of chemotherapy and radiation therapy and replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the bone marrow or blood of the patient or a donor and are frozen and stored. After therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. + + + Treatment for mycosis fungoides and the Szary syndrome may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Mycosis Fungoides + Treatment of stage I mycosis fungoides may include the following: - PUVA therapy. Biologic therapy may also be given. - Radiation therapy. In some cases, radiation therapy is given to skin lesions, as palliative therapy to reduce tumor size or relieve symptoms and improve quality of life. - Topical corticosteroid therapy. - Retinoid therapy. - Topical or systemic chemotherapy. - Biologic therapy. Topical chemotherapy may also be given. - Targeted therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I mycosis fungoides/Sezary syndrome. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Mycosis Fungoides + Treatment of stage II mycosis fungoides is palliative (to relieve symptoms and improve the quality of life) and may include the following: - PUVA therapy. Biologic therapy may also be given. - Radiation therapy. - Topical corticosteroid therapy. - Retinoid therapy. - Topical or systemic chemotherapy. - Biologic therapy. Topical chemotherapy may also be given. - Targeted therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II mycosis fungoides/Sezary syndrome. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Mycosis Fungoides + Treatment of stage III mycosis fungoides is palliative (to relieve symptoms and improve the quality of life) and may include the following: - PUVA therapy. Systemic chemotherapy or biologic therapy may also be given. - Extracorporeal photochemotherapy. - Radiation therapy. - Topical corticosteroid therapy. - Retinoid therapy. - Systemic chemotherapy with one or more drugs. Topical chemotherapy or radiation therapy may also be given. - Topical chemotherapy. - Biologic therapy. Topical chemotherapy may also be given. - Targeted therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III mycosis fungoides/Sezary syndrome. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Mycosis Fungoides and the Szary Syndrome + Treatment of stage IV mycosis fungoides and stage IV Szary syndrome is palliative (to relieve symptoms and improve the quality of life) and may include the following: - PUVA therapy. Systemic chemotherapy or biologic therapy may also be given. - Extracorporeal photochemotherapy. Radiation therapy may also be given. - Radiation therapy. - Topical corticosteroid therapy. - Retinoid therapy. - Systemic chemotherapy with one or more drugs, or topical chemotherapy. - Biologic therapy. Topical chemotherapy may also be given. - Targeted therapy. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV mycosis fungoides/Sezary syndrome. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Mycosis Fungoides and the Szary Syndrome +What is (are) Lung Cancer ?,"Key Points + - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in both men and women. + + + Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. + The lungs are a pair of cone-shaped breathing organs in the chest. The lungs bring oxygen into the body as you breathe in. They release carbon dioxide, a waste product of the body's cells, as you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung is slightly larger, and has three lobes. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also involved in lung cancer. Tiny air sacs called alveoli and small tubes called bronchioles make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Lung Cancer Screening - Non-Small Cell Lung Cancer Treatment - Small Cell Lung Cancer Treatment + + + Lung cancer is the leading cause of cancer death in both men and women. + More people die from lung cancer than from any other type of cancer. Lung cancer is the second most common cancer in the United States, after skin cancer. The number of new cases and deaths from lung cancer is highest in black men.",CancerGov,Lung Cancer +How to prevent Lung Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent lung cancer. - The following are risk factors for lung cancer: - Cigarette, cigar, and pipe smoking - Secondhand smoke - Family history - HIV infection - Environmental risk factors - Beta carotene supplements in heavy smokers - The following are protective factors for lung cancer: - Not smoking - Quitting smoking - Lower exposure to workplace risk factors - Lower exposure to radon - It is not clear if the following decrease the risk of lung cancer: - Diet - Physical activity - The following do not decrease the risk of lung cancer: - Beta carotene supplements in nonsmokers - Vitamin E supplements - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent lung cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent lung cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following are risk factors for lung cancer: + Cigarette, cigar, and pipe smoking Tobacco smoking is the most important risk factor for lung cancer. Cigarette, cigar, and pipe smoking all increase the risk of lung cancer. Tobacco smoking causes about 9 out of 10 cases of lung cancer in men and about 8 out of 10 cases of lung cancer in women. Studies have shown that smoking low tar or low nicotine cigarettes does not lower the risk of lung cancer. Studies also show that the risk of lung cancer from smoking cigarettes increases with the number of cigarettes smoked per day and the number of years smoked. People who smoke have about 20 times the risk of lung cancer compared to those who do not smoke. Secondhand smoke Being exposed to secondhand tobacco smoke is also a risk factor for lung cancer. Secondhand smoke is the smoke that comes from a burning cigarette or other tobacco product, or that is exhaled by smokers. People who inhale secondhand smoke are exposed to the same cancer -causing agents as smokers, although in smaller amounts. Inhaling secondhand smoke is called involuntary or passive smoking. Family history Having a family history of lung cancer is a risk factor for lung cancer. People with a relative who has had lung cancer may be twice as likely to have lung cancer as people who do not have a relative who has had lung cancer. Because cigarette smoking tends to run in families and family members are exposed to secondhand smoke, it is hard to know whether the increased risk of lung cancer is from the family history of lung cancer or from being exposed to cigarette smoke. HIV infection Being infected with the human immunodeficiency virus (HIV), the cause of acquired immunodeficiency syndrome (AIDS), is linked with a higher risk of lung cancer. People infected with HIV may have more than twice the risk of lung cancer than those who are not infected. Since smoking rates are higher in those infected with HIV than in those not infected, it is not clear whether the increased risk of lung cancer is from HIV infection or from being exposed to cigarette smoke. Environmental risk factors - Radiation exposure: Being exposed to radiation is a risk factor for lung cancer. Atomic bomb radiation, radiation therapy, imaging tests, and radon are sources of radiation exposure: - Atomic bomb radiation: Being exposed to radiation after an atomic bomb explosion increases the risk of lung cancer. - Radiation therapy: Radiation therapy to the chest may be used to treat certain cancers, including breast cancer and Hodgkin lymphoma. Radiation therapy uses x-rays, gamma rays, or other types of radiation that may increase the risk of lung cancer. The higher the dose of radiation received, the higher the risk. The risk of lung cancer following radiation therapy is higher in patients who smoke than in nonsmokers. - Imaging tests: Imaging tests, such as CT scans, expose patients to radiation. Low-dose spiral CT scans expose patients to less radiation than higher dose CT scans. In lung cancer screening, the use of low-dose spiral CT scans can lessen the harmful effects of radiation. - Radon: Radon is a radioactive gas that comes from the breakdown of uranium in rocks and soil. It seeps up through the ground, and leaks into the air or water supply. Radon can enter homes through cracks in floors, walls, or the foundation, and levels of radon can build up over time. Studies show that high levels of radon gas inside the home or workplace increase the number of new cases of lung cancer and the number of deaths caused by lung cancer. The risk of lung cancer is higher in smokers exposed to radon than in nonsmokers who are exposed to it. In people who have never smoked, about 30% of deaths caused by lung cancer have been linked to being exposed to radon. - Workplace exposure: Studies show that being exposed to the following substances increases the risk of lung cancer: - Asbestos. - Arsenic. - Chromium. - Nickel. - Beryllium. - Cadmium. - Tar and soot. These substances can cause lung cancer in people who are exposed to them in the workplace and have never smoked. As the level of exposure to these substances increases, the risk of lung cancer also increases. The risk of lung cancer is even higher in people who are exposed and also smoke. - Air pollution: Studies show that living in areas with higher levels of air pollution increases the risk of lung cancer. Beta carotene supplements in heavy smokers Taking beta carotene supplements (pills) increases the risk of lung cancer, especially in smokers who smoke one or more packs a day. The risk is higher in smokers who have at least one alcoholic drink every day. + + + The following are protective factors for lung cancer: + Not smoking The best way to prevent lung cancer is to not smoke. Quitting smoking Smokers can decrease their risk of lung cancer by quitting. In smokers who have been treated for lung cancer, quitting smoking lowers the risk of new lung cancers. Counseling, the use of nicotine replacement products, and antidepressant therapy have helped smokers quit for good. In a person who has quit smoking, the chance of preventing lung cancer depends on how many years and how much the person smoked and the length of time since quitting. After a person has quit smoking for 10 years, the risk of lung cancer decreases 30% to 50%. See the following for more information on quitting smoking: - Tobacco (includes help with quitting) - Cigarette Smoking: Health Risks and How to Quit Lower exposure to workplace risk factors Laws that protect workers from being exposed to cancer-causing substances, such as asbestos, arsenic, nickel, and chromium, may help lower their risk of developing lung cancer. Laws that prevent smoking in the workplace help lower the risk of lung cancer caused by secondhand smoke. Lower exposure to radon Lowering radon levels may lower the risk of lung cancer, especially among cigarette smokers. High levels of radon in homes may be reduced by taking steps to prevent radon leakage, such as sealing basements. + + + It is not clear if the following decrease the risk of lung cancer: + Diet Some studies show that people who eat high amounts of fruits or vegetables have a lower risk of lung cancer than those who eat low amounts. However, since smokers tend to have less healthy diets than nonsmokers, it is hard to know whether the decreased risk is from having a healthy diet or from not smoking. Physical activity Some studies show that people who are physically active have a lower risk of lung cancer than people who are not. However, since smokers tend to have different levels of physical activity than nonsmokers, it is hard to know if physical activity affects the risk of lung cancer. + + + The following do not decrease the risk of lung cancer: + Beta carotene supplements in nonsmokers Studies of nonsmokers show that taking beta carotene supplements does not lower their risk of lung cancer. Vitamin E supplements Studies show that taking vitamin E supplements does not affect the risk of lung cancer. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent lung cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check the list of NCI-supported cancer clinical trials for prevention trials for non-small cell lung cancer and small cell lung cancer that are now accepting patients. These include trials for quitting smoking.",CancerGov,Lung Cancer +Who is at risk for Lung Cancer? ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent lung cancer. - The following are risk factors for lung cancer: - Cigarette, cigar, and pipe smoking - Secondhand smoke - Family history - HIV infection - Environmental risk factors - Beta carotene supplements in heavy smokers - The following are protective factors for lung cancer: - Not smoking - Quitting smoking - Lower exposure to workplace risk factors - Lower exposure to radon - It is not clear if the following decrease the risk of lung cancer: - Diet - Physical activity - The following do not decrease the risk of lung cancer: - Beta carotene supplements in nonsmokers - Vitamin E supplements - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent lung cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent lung cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following are risk factors for lung cancer: + Cigarette, cigar, and pipe smoking Tobacco smoking is the most important risk factor for lung cancer. Cigarette, cigar, and pipe smoking all increase the risk of lung cancer. Tobacco smoking causes about 9 out of 10 cases of lung cancer in men and about 8 out of 10 cases of lung cancer in women. Studies have shown that smoking low tar or low nicotine cigarettes does not lower the risk of lung cancer. Studies also show that the risk of lung cancer from smoking cigarettes increases with the number of cigarettes smoked per day and the number of years smoked. People who smoke have about 20 times the risk of lung cancer compared to those who do not smoke. Secondhand smoke Being exposed to secondhand tobacco smoke is also a risk factor for lung cancer. Secondhand smoke is the smoke that comes from a burning cigarette or other tobacco product, or that is exhaled by smokers. People who inhale secondhand smoke are exposed to the same cancer -causing agents as smokers, although in smaller amounts. Inhaling secondhand smoke is called involuntary or passive smoking. Family history Having a family history of lung cancer is a risk factor for lung cancer. People with a relative who has had lung cancer may be twice as likely to have lung cancer as people who do not have a relative who has had lung cancer. Because cigarette smoking tends to run in families and family members are exposed to secondhand smoke, it is hard to know whether the increased risk of lung cancer is from the family history of lung cancer or from being exposed to cigarette smoke. HIV infection Being infected with the human immunodeficiency virus (HIV), the cause of acquired immunodeficiency syndrome (AIDS), is linked with a higher risk of lung cancer. People infected with HIV may have more than twice the risk of lung cancer than those who are not infected. Since smoking rates are higher in those infected with HIV than in those not infected, it is not clear whether the increased risk of lung cancer is from HIV infection or from being exposed to cigarette smoke. Environmental risk factors - Radiation exposure: Being exposed to radiation is a risk factor for lung cancer. Atomic bomb radiation, radiation therapy, imaging tests, and radon are sources of radiation exposure: - Atomic bomb radiation: Being exposed to radiation after an atomic bomb explosion increases the risk of lung cancer. - Radiation therapy: Radiation therapy to the chest may be used to treat certain cancers, including breast cancer and Hodgkin lymphoma. Radiation therapy uses x-rays, gamma rays, or other types of radiation that may increase the risk of lung cancer. The higher the dose of radiation received, the higher the risk. The risk of lung cancer following radiation therapy is higher in patients who smoke than in nonsmokers. - Imaging tests: Imaging tests, such as CT scans, expose patients to radiation. Low-dose spiral CT scans expose patients to less radiation than higher dose CT scans. In lung cancer screening, the use of low-dose spiral CT scans can lessen the harmful effects of radiation. - Radon: Radon is a radioactive gas that comes from the breakdown of uranium in rocks and soil. It seeps up through the ground, and leaks into the air or water supply. Radon can enter homes through cracks in floors, walls, or the foundation, and levels of radon can build up over time. Studies show that high levels of radon gas inside the home or workplace increase the number of new cases of lung cancer and the number of deaths caused by lung cancer. The risk of lung cancer is higher in smokers exposed to radon than in nonsmokers who are exposed to it. In people who have never smoked, about 30% of deaths caused by lung cancer have been linked to being exposed to radon. - Workplace exposure: Studies show that being exposed to the following substances increases the risk of lung cancer: - Asbestos. - Arsenic. - Chromium. - Nickel. - Beryllium. - Cadmium. - Tar and soot. These substances can cause lung cancer in people who are exposed to them in the workplace and have never smoked. As the level of exposure to these substances increases, the risk of lung cancer also increases. The risk of lung cancer is even higher in people who are exposed and also smoke. - Air pollution: Studies show that living in areas with higher levels of air pollution increases the risk of lung cancer. Beta carotene supplements in heavy smokers Taking beta carotene supplements (pills) increases the risk of lung cancer, especially in smokers who smoke one or more packs a day. The risk is higher in smokers who have at least one alcoholic drink every day. + + + The following are protective factors for lung cancer: + Not smoking The best way to prevent lung cancer is to not smoke. Quitting smoking Smokers can decrease their risk of lung cancer by quitting. In smokers who have been treated for lung cancer, quitting smoking lowers the risk of new lung cancers. Counseling, the use of nicotine replacement products, and antidepressant therapy have helped smokers quit for good. In a person who has quit smoking, the chance of preventing lung cancer depends on how many years and how much the person smoked and the length of time since quitting. After a person has quit smoking for 10 years, the risk of lung cancer decreases 30% to 50%. See the following for more information on quitting smoking: - Tobacco (includes help with quitting) - Cigarette Smoking: Health Risks and How to Quit Lower exposure to workplace risk factors Laws that protect workers from being exposed to cancer-causing substances, such as asbestos, arsenic, nickel, and chromium, may help lower their risk of developing lung cancer. Laws that prevent smoking in the workplace help lower the risk of lung cancer caused by secondhand smoke. Lower exposure to radon Lowering radon levels may lower the risk of lung cancer, especially among cigarette smokers. High levels of radon in homes may be reduced by taking steps to prevent radon leakage, such as sealing basements. + + + It is not clear if the following decrease the risk of lung cancer: + Diet Some studies show that people who eat high amounts of fruits or vegetables have a lower risk of lung cancer than those who eat low amounts. However, since smokers tend to have less healthy diets than nonsmokers, it is hard to know whether the decreased risk is from having a healthy diet or from not smoking. Physical activity Some studies show that people who are physically active have a lower risk of lung cancer than people who are not. However, since smokers tend to have different levels of physical activity than nonsmokers, it is hard to know if physical activity affects the risk of lung cancer. + + + The following do not decrease the risk of lung cancer: + Beta carotene supplements in nonsmokers Studies of nonsmokers show that taking beta carotene supplements does not lower their risk of lung cancer. Vitamin E supplements Studies show that taking vitamin E supplements does not affect the risk of lung cancer. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent lung cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check the list of NCI-supported cancer clinical trials for prevention trials for non-small cell lung cancer and small cell lung cancer that are now accepting patients. These include trials for quitting smoking.",CancerGov,Lung Cancer +What is (are) Ewing Sarcoma ?,"Key Points + - Ewing sarcoma is a type of tumor that forms in bone or soft tissue. - Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. - Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. - A biopsy is done to diagnose Ewing sarcoma. - Certain factors affect prognosis (chance of recovery). + + + Ewing sarcoma is a type of tumor that forms in bone or soft tissue. + Ewing sarcoma is a type of tumor that forms from a certain kind of cell in bone or soft tissue. Ewing sarcoma may be found in the bones of the legs, arms, feet, hands, chest, pelvis, spine, or skull. Ewing sarcoma also may be found in the soft tissue of the trunk, arms, legs, head and neck, abdominal cavity, or other areas. Ewing sarcoma is most common in adolescents and young adults. Ewing sarcoma has also been called peripheral primitive neuroectodermal tumor, Askin tumor (Ewing sarcoma of the chest wall), extraosseous Ewing sarcoma (Ewing sarcoma in tissue other than bone), and Ewing sarcoma family of tumors.",CancerGov,Ewing Sarcoma +How to diagnose Ewing Sarcoma ?,"Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. + Procedures that make pictures of the bones and soft tissues and nearby areas help diagnose Ewing sarcoma and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bones and soft tissues is called staging. In order to plan treatment, it is important to know if the cancer is in the area where it first formed or if it has spread to other parts of the body. Tests and procedures to detect, diagnose, and stage Ewing sarcoma are usually done at the same time. The following tests and procedures may be used to diagnose or stage Ewing sarcoma: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the area where the tumor formed. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the area where the tumor formed or the chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and a CT scan are often done at the same time. If there is any cancer, this increases the chance that it will be found. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. Samples are removed from both hipbones. A pathologist views the bone marrow and bone under a microscope to see if the cancer has spread. - X-ray: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body, such as the chest or the area where the tumor formed. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as lactate dehydrogenase (LDH), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. + + + A biopsy is done to diagnose Ewing sarcoma. + Tissue samples are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. It is helpful if the biopsy is done at the same center where treatment will be given. - Needle biopsy : For a needle biopsy, tissue is removed using a needle. This type of needle biopsy may be done if its possible to remove tissue samples large enough to be used for testing. - Incisional biopsy : For an incisional biopsy, a sample of tissue is removed through an incision in the skin. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal. The specialists (pathologist, radiation oncologist, and surgeon) who will treat the patient usually work together to decide where the needle should be placed or the biopsy incision should be made. This is done so that the biopsy doesn't affect later treatment such as surgery to remove the tumor or radiation therapy. If there is a chance that the cancer has spread to nearby lymph nodes, one or more lymph nodes may be removed and checked for signs of cancer. The following tests may be done on the tissue that is removed: - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.",CancerGov,Ewing Sarcoma +What are the symptoms of Ewing Sarcoma ?,"Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. These and other signs and symptoms may be caused by Ewing sarcoma or by other conditions. Check with your childs doctor if your child has any of the following: - Pain and/or swelling, usually in the arms, legs, chest, back, or pelvis. - A lump (which may feel soft and warm) in the arms, legs, chest, or pelvis. - Fever for no known reason. - A bone that breaks for no known reason.",CancerGov,Ewing Sarcoma +What is the outlook for Ewing Sarcoma ?,"Certain factors affect prognosis (chance of recovery). The factors that affect prognosis (chance of recovery) are different before and after treatment. Before treatment, prognosis depends on: - Whether the tumor has spread to lymph nodes or distant parts of the body. - Where in the body the tumor started. - Whether the tumor formed in the bone or in soft tissue. - How large the tumor is at when the tumor is diagnosed. - Whether the LDH level in the blood is higher than normal. - Whether the tumor has certain gene changes. - Whether the child is younger than 15 years. - The patient's gender. - Whether the child has had treatment for a different cancer before Ewing sarcoma. - Whether the tumor has just been diagnosed or has recurred (come back). After treatment, prognosis is affected by: - Whether the tumor was completely removed by surgery. - Whether the tumor responds to chemotherapy or radiation therapy. If the cancer recurs after initial treatment, prognosis depends on: - Whether the cancer came back more than two years after the initial treatment. - Where in the body the tumor came back. - The type of initial treatment given.",CancerGov,Ewing Sarcoma +What are the stages of Ewing Sarcoma ?,"Key Points + - The results of diagnostic and staging tests are used to find out if cancer cells have spread. - Ewing sarcoma is described based on whether the cancer has spread from the bone or soft tissue in which the cancer began. - Localized Ewing sarcoma - Metastatic Ewing sarcoma - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. + + + The results of diagnostic and staging tests are used to find out if cancer cells have spread. + The process used to find out if cancer has spread from where it began to other parts of the body is called staging. There is no standard staging system for Ewing sarcoma. The results of the tests and procedures done to diagnose and stage Ewing sarcoma are used to group the tumors into localized or metastatic. + + + Ewing sarcoma is described based on whether the cancer has spread from the bone or soft tissue in which the cancer began. + Ewing sarcoma is described as either localized or metastatic. Localized Ewing sarcoma The cancer is found in the bone or soft tissue in which it began and may have spread to nearby tissue, including nearby lymph nodes. Metastatic Ewing sarcoma The cancer has spread from the bone or soft tissue in which it began to other parts of the body. In Ewing tumor of bone, the cancer most often spreads to the lung, other bones, and bone marrow. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if Ewing sarcoma spreads to the lung, the cancer cells in the lung are actually Ewing sarcoma cells. The disease is metastatic Ewing sarcoma, not lung cancer.",CancerGov,Ewing Sarcoma +What are the treatments for Ewing Sarcoma ?,"Key Points + - There are different types of treatment for children with Ewing sarcoma. - Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for Ewing sarcoma may cause side effects. - Five types of standard treatment are used: - Chemotherapy - Radiation therapy - Surgery - Targeted therapy - High-dose chemotherapy with stem cell rescue - New types of treatment are being tested in clinical trials. - Chimeric antigen receptor (CAR) T-cell therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with Ewing sarcoma. + Different types of treatments are available for children with Ewing sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment. + + + Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with Ewing sarcoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Surgical oncologist or orthopedic oncologist. - Radiation oncologist. - Pediatric nurse specialist. - Social worker. - Rehabilitation specialist. - Psychologist. + + + Treatment for Ewing sarcoma may cause side effects. + For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Patients treated for Ewing sarcoma have an increased risk of acute myeloid leukemia and myelodysplastic syndrome. There is also an increased risk of sarcoma in the area treated with radiation therapy. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) + + + Five types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. Systemic chemotherapy is part of the treatment for all patients with Ewing tumors. It is often the first treatment given and lasts for about 6 to 12 months. Chemotherapy is often given to shrink the tumor before surgery or radiation therapy and to kill any tumor cells that may have spread to other parts of the body. See Drugs Approved for Soft Tissue Sarcoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. External radiation therapy is used to treat Ewing sarcoma. Radiation therapy is used when the tumor cannot be removed by surgery or when surgery to remove the tumor will affect important body functions or the way the child will look. It may be used to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. It may also be used to treat any tumor that remains after surgery and tumors that have spread to other parts of the body. Surgery Surgery is usually done to remove cancer that is left after chemotherapy or radiation therapy. When possible, the whole tumor is removed by surgery. Tissue and bone that are removed may be replaced with a graft, which uses tissue and bone taken from another part of the patient's body or a donor. Sometimes an implant, such as artificial bone, is used. Even if the doctor removes all of the cancer that can be seen at the time of the operation, chemotherapy or radiation therapy may be given after surgery to kill any cancer cells that are left. Chemotherapy or radiation therapy given after surgery to lower the risk that the cancer will come back is called adjuvant therapy. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used in the treatment of recurrent Ewing sarcoma. It is being studied for the treatment of metastatic Ewing sarcoma. Monoclonal antibodies are made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. New types of targeted therapy are being studied. - Kinase inhibitor therapy is another type of targeted therapy. Kinase inhibitors are drugs that block a protein needed for cancer cells to divide. They are being studied in the treatment of recurrent Ewing sarcoma. - PARP inhibitor therapy is another type of targeted therapy. PARP inhibitors are drugs that block DNA repair and may cause cancer cells to die. They are being studied in the treatment of recurrent Ewing sarcoma. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy to treat Ewing sarcoma and then replacing blood -forming cells destroyed by cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Chemotherapy with stem cell rescue is used to treat recurrent Ewing sarcoma. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of Ewing sarcoma that has recurred. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + + Treatment Options for Ewing Sarcoma + + + Localized Ewing Sarcoma + Standard treatments for localized Ewing sarcoma include: - Chemotherapy. - Surgery and/or radiation therapy. These treatments and the order they are given depend on the following: - Where in the body the tumor started. - How large the tumor is when the cancer is diagnosed. - Whether the tumor was completely removed by surgery. - The child's age and general health. - Whether the treatment will affect important body functions or the way the child will look. Treatments being studied for localized Ewing sarcoma include: - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Metastatic Ewing Sarcoma + Standard treatments for metastatic Ewing sarcoma include: - Chemotherapy. - Surgery. - Radiation therapy. These treatments and the order they are given depend on the following: - Where in the body the tumor started. - Where the tumor has spread. - How large the tumor is. - Whether the treatment will affect important body functions or the way the child will look. - The child's age and general health. Treatments being studied for metastatic Ewing sarcoma include the following: - Combination chemotherapy with or without targeted therapy. Radiation therapy is given to areas of bone where cancer has spread. - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. + + + Recurrent Ewing Sarcoma + There is no standard treatment for recurrent Ewing sarcoma but treatment options may include the following: - Combination chemotherapy. - Radiation therapy to bone tumors, as palliative therapy to relieve symptoms and improve the quality of life. - Radiation therapy that may be followed by surgery to remove tumors that have spread to the lungs. - High-dose chemotherapy with stem cell rescue. - Targeted therapy with a monoclonal antibody. These treatments and the order they are given depend on the following: - Where in the body the tumor came back. - The initial treatment given. Treatment options being studied for recurrent Ewing sarcoma include the following: - Targeted therapy with a monoclonal antibody. - Chimeric antigen receptor (CAR) T-cell therapy. - Targeted therapy with a PARP inhibitor and chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Ewing Sarcoma +what research (or clinical trials) is being done for Ewing Sarcoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of Ewing sarcoma that has recurred. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Ewing Sarcoma +What is (are) Childhood Brain and Spinal Cord Tumors ?,"Key Points + - A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. - The brain controls many important body functions. - The spinal cord connects the brain with nerves in most parts of the body. - Brain and spinal cord tumors are a common type of childhood cancer. - The cause of most childhood brain and spinal cord tumors is unknown. - The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors. - Most childhood brain tumors are diagnosed and removed in surgery. - Some childhood brain and spinal cord tumors are diagnosed by imaging tests. - Certain factors affect prognosis (chance of recovery). + + + A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. + There are many types of childhood brain and spinal cord tumors. The tumors are formed by the abnormal growth of cells and may begin in different areas of the brain or spinal cord. The tumors may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs or symptoms and need treatment. Together, the brain and spinal cord make up the central nervous system (CNS). + + + The brain controls many important body functions. + The brain has three major parts: - The cerebrum is the largest part of the brain. It is at the top of the head. The cerebrum controls thinking, learning, problem solving, emotions, speech, reading, writing, and voluntary movement. - The cerebellum is in the lower back of the brain (near the middle of the back of the head). It controls movement, balance, and posture. - The brain stem connects the brain to the spinal cord. It is in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. + + + The spinal cord connects the brain with nerves in most parts of the body. + The spinal cord is a column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. These membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch. + + + Brain and spinal cord tumors are a common type of childhood cancer. + Although cancer is rare in children, brain and spinal cord tumors are the third most common type of childhood cancer, after leukemia and lymphoma. Brain tumors can occur in both children and adults. Treatment for children is usually different than treatment for adults. (See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information about the treatment of adults.) This summary describes the treatment of primary brain and spinal cord tumors (tumors that begin in the brain and spinal cord). Treatment of metastatic brain and spinal cord tumors is not covered in this summary. Metastatic tumors are formed by cancer cells that begin in other parts of the body and spread to the brain or spinal cord.",CancerGov,Childhood Brain and Spinal Cord Tumors +What causes Childhood Brain and Spinal Cord Tumors ?,The cause of most childhood brain and spinal cord tumors is unknown.,CancerGov,Childhood Brain and Spinal Cord Tumors +What are the symptoms of Childhood Brain and Spinal Cord Tumors ?,"The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. - The child's age and development. Signs and symptoms may be caused by childhood brain and spinal cord tumors or by other conditions, including cancer that has spread to the brain. Check with your child's doctor if your child has any of the following: Brain Tumor Signs and Symptoms - Morning headache or headache that goes away after vomiting. - Frequent nausea and vomiting. - Vision, hearing, and speech problems. - Loss of balance and trouble walking. - Unusual sleepiness or change in activity level. - Unusual changes in personality or behavior. - Seizures. - Increase in the head size (in infants). Spinal Cord Tumor Signs and Symptoms - Back pain or pain that spreads from the back towards the arms or legs. - A change in bowel habits or trouble urinating. - Weakness in the legs. - Trouble walking. In addition to these signs and symptoms of brain and spinal cord tumors, some children are unable to reach certain growth and development milestones such as sitting up, walking, and talking in sentences.",CancerGov,Childhood Brain and Spinal Cord Tumors +How to diagnose Childhood Brain and Spinal Cord Tumors ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. + Most childhood brain tumors are diagnosed and removed in surgery. If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type and grade of brain tumor. The grade of the tumor is based on how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. + Some childhood brain and spinal cord tumors are diagnosed by imaging tests. Sometimes a biopsy or surgery cannot be done safely because of where the tumor formed in the brain or spinal cord. These tumors are diagnosed based on the results of imaging tests and other procedures.",CancerGov,Childhood Brain and Spinal Cord Tumors +What is the outlook for Childhood Brain and Spinal Cord Tumors ?,Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - Whether there are any cancer cells left after surgery. - The type of tumor. - Where the tumor is in the body. - The child's age. - Whether the tumor has just been diagnosed or has recurred (come back).,CancerGov,Childhood Brain and Spinal Cord Tumors +what research (or clinical trials) is being done for Childhood Brain and Spinal Cord Tumors ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website.",CancerGov,Childhood Brain and Spinal Cord Tumors +What are the treatments for Childhood Brain and Spinal Cord Tumors ?,"Key Points + - There are different types of treatment for children with brain and spinal cord tumors. - Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors. - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - High-dose chemotherapy with stem cell transplant - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for children with brain and spinal cord tumors. + Different types of treatment are available for children with brain and spinal cord tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Some clinical trials are open only to patients who have not started treatment. + + + Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Neurologist. - Neuro-oncologist. - Neuropathologist. - Neuroradiologist. - Radiation oncologist. - Endocrinologist. - Psychologist. - Ophthalmologist. - Rehabilitation specialist. - Social worker. - Nurse specialist. + + + Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Childhood brain and spinal cord tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + These are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Three types of standard treatment are used: + Surgery Surgery may be used to diagnose and treat childhood brain and spinal cord tumors. See the General Information section of this summary. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood brain and spinal cord tumors. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells there. This is called intrathecal chemotherapy. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. Information about clinical trials is available from the NCI website. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",CancerGov,Childhood Brain and Spinal Cord Tumors +Who is at risk for Testicular Cancer? ?,"Health history can affect the risk of testicular cancer. + Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for testicular cancer include: - Having had an undescended testicle. - Having had abnormal development of the testicles. - Having a personal history of testicular cancer. - Having a family history of testicular cancer (especially in a father or brother). - Being white. + + + Treatment for testicular cancer can cause infertility. + Certain treatments for testicular cancer can cause infertility that may be permanent. Patients who may wish to have children should consider sperm banking before having treatment. Sperm banking is the process of freezing sperm and storing it for later use.",CancerGov,Testicular Cancer +What are the stages of Testicular Cancer ?,"Key Points + - After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for testicular cancer: - Stage 0 (Testicular Intraepithelial Neoplasia) - Stage I - Stage II - Stage III + + + After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. + The process used to find out if cancer has spread within the testicles or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Abdominal lymph node dissection : A surgical procedure in which lymph nodes in the abdomen are removed and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called lymphadenectomy. For patients with nonseminoma, removing the lymph nodes may help stop the spread of disease. Cancer cells in the lymph nodes of seminoma patients can be treated with radiation therapy. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following 3 tumor markers are used in staging testicular cancer: - Alpha-fetoprotein (AFP) - Beta-human chorionic gonadotropin (-hCG). - Lactate dehydrogenase (LDH). Tumor marker levels are measured again, after inguinal orchiectomy and biopsy, in order to determine the stage of the cancer. This helps to show if all of the cancer has been removed or if more treatment is needed. Tumor marker levels are also measured during follow-up as a way of checking if the cancer has come back. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if testicular cancer spreads to the lung, the cancer cells in the lung are actually testicular cancer cells. The disease is metastatic testicular cancer, not lung cancer. + + + The following stages are used for testicular cancer: + Stage 0 (Testicular Intraepithelial Neoplasia) In stage 0, abnormal cells are found in the tiny tubules where the sperm cells begin to develop. These abnormal cells may become cancer and spread into nearby normal tissue. All tumor marker levels are normal. Stage 0 is also called testicular intraepithelial neoplasia and testicular intratubular germ cell neoplasia. Stage I In stage I, cancer has formed. Stage I is divided into stage IA, stage IB, and stage IS and is determined after an inguinal orchiectomy is done. - In stage IA, cancer is in the testicle and epididymis and may have spread to the inner layer of the membrane surrounding the testicle. All tumor marker levels are normal. - In stage IB, cancer: - is in the testicle and the epididymis and has spread to the blood vessels or lymph vessels in the testicle; or - has spread to the outer layer of the membrane surrounding the testicle; or - is in the spermatic cord or the scrotum and may be in the blood vessels or lymph vessels of the testicle. All tumor marker levels are normal. - In stage IS, cancer is found anywhere within the testicle, spermatic cord, or the scrotum and either: - all tumor marker levels are slightly above normal; or - one or more tumor marker levels are moderately above normal or high. Stage II Stage II is divided into stage IIA, stage IIB, and stage IIC and is determined after an inguinal orchiectomy is done. - In stage IIA, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - has spread to up to 5 lymph nodes in the abdomen, none larger than 2 centimeters. All tumor marker levels are normal or slightly above normal. - In stage IIB, cancer is anywhere within the testicle, spermatic cord, or scrotum; and either: - has spread to up to 5 lymph nodes in the abdomen; at least one of the lymph nodes is larger than 2 centimeters, but none are larger than 5 centimeters; or - has spread to more than 5 lymph nodes; the lymph nodes are not larger than 5 centimeters. All tumor marker levels are normal or slightly above normal. - In stage IIC, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - has spread to a lymph node in the abdomen that is larger than 5 centimeters. All tumor marker levels are normal or slightly above normal. Stage III Stage III is divided into stage IIIA, stage IIIB, and stage IIIC and is determined after an inguinal orchiectomy is done. - In stage IIIA, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen; and - has spread to distant lymph nodes or to the lungs. Tumor marker levels may range from normal to slightly above normal. - In stage IIIB, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen, to distant lymph nodes, or to the lungs. The level of one or more tumor markers is moderately above normal. - In stage IIIC, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen, to distant lymph nodes, or to the lungs. The level of one or more tumor markers is high. or Cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen; and - has not spread to distant lymph nodes or the lung but has spread to other parts of the body. Tumor marker levels may range from normal to high.",CancerGov,Testicular Cancer +What are the treatments for Testicular Cancer ?,"Key Points + - There are different types of treatment for patients with testicular cancer. - Testicular tumors are divided into 3 groups, based on how well the tumors are expected to respond to treatment. - Good Prognosis - Intermediate Prognosis - Poor Prognosis - Five types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Surveillance - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with testicular cancer. + Different types of treatments are available for patients with testicular cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Testicular tumors are divided into 3 groups, based on how well the tumors are expected to respond to treatment. + Good Prognosis For nonseminoma, all of the following must be true: - The tumor is found only in the testicle or in the retroperitoneum (area outside or behind the abdominal wall); and - The tumor has not spread to organs other than the lungs; and - The levels of all the tumor markers are slightly above normal. For seminoma, all of the following must be true: - The tumor has not spread to organs other than the lungs; and - The level of alpha-fetoprotein (AFP) is normal. Beta-human chorionic gonadotropin (-hCG) and lactate dehydrogenase (LDH) may be at any level. Intermediate Prognosis For nonseminoma, all of the following must be true: - The tumor is found in one testicle only or in the retroperitoneum (area outside or behind the abdominal wall); and - The tumor has not spread to organs other than the lungs; and - The level of any one of the tumor markers is more than slightly above normal. For seminoma, all of the following must be true: - The tumor has spread to organs other than the lungs; and - The level of AFP is normal. -hCG and LDH may be at any level. Poor Prognosis For nonseminoma, at least one of the following must be true: - The tumor is in the center of the chest between the lungs; or - The tumor has spread to organs other than the lungs; or - The level of any one of the tumor markers is high. There is no poor prognosis grouping for seminoma testicular tumors. + + + Five types of standard treatment are used: + Surgery Surgery to remove the testicle (inguinal orchiectomy) and some of the lymph nodes may be done at diagnosis and staging. (See the General Information and Stages sections of this summary.) Tumors that have spread to other places in the body may be partly or entirely removed by surgery. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat testicular cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Testicular Cancer for more information. Surveillance Surveillance is closely following a patient's condition without giving any treatment unless there are changes in test results. It is used to find early signs that the cancer has recurred (come back). In surveillance, patients are given certain exams and tests on a regular schedule. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. See Drugs Approved for Testicular Cancer for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Men who have had testicular cancer have an increased risk of developing cancer in the other testicle. A patient is advised to regularly check the other testicle and report any unusual symptoms to a doctor right away. Long-term clinical exams are very important. The patient will probably have check-ups frequently during the first year after surgery and less often after that. + + + Treatment Options by Stage + + + Stage 0 (Testicular Intraepithelial Neoplasia) + Treatment of stage 0 may include the following: - Radiation therapy. - Surveillance. - Surgery to remove the testicle. Check the list of NCI-supported cancer clinical trials that are now accepting patients with testicular cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Testicular Cancer + Treatment of stage I testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - Surgery to remove the testicle, followed by surveillance. - For patients who want active treatment rather than surveillance, treatment may include: - - Surgery to remove the testicle, followed by chemotherapy. Treatment of nonseminoma may include the following: - Surgery to remove the testicle, with long-term follow-up. - Surgery to remove the testicle and lymph nodes in the abdomen, with long-term follow-up. - Surgery followed by chemotherapy for patients at high risk of recurrence, with long-term follow-up. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I testicular cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Testicular Cancer + Treatment of stage II testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - When the tumor is 5 centimeters or smaller: - Surgery to remove the testicle, followed by radiation therapy to lymph nodes in the abdomen and pelvis. - Combination chemotherapy. - Surgery to remove the testicle and lymph nodes in the abdomen. - When the tumor is larger than 5 centimeters: - Surgery to remove the testicle, followed by combination chemotherapy or radiation therapy to lymph nodes in the abdomen and pelvis, with long-term follow-up. Treatment of nonseminoma may include the following: - Surgery to remove the testicle and lymph nodes, with long-term follow-up. - Surgery to remove the testicle and lymph nodes, followed by combination chemotherapy and long-term follow-up. - Surgery to remove the testicle, followed by combination chemotherapy and a second surgery if cancer remains, with long-term follow-up. - Combination chemotherapy before surgery to remove the testicle, for cancer that has spread and is thought to be life-threatening. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II testicular cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Testicular Cancer + Treatment of stage III testicular cancer depends on whether the cancer is a seminoma or a nonseminoma. Treatment of seminoma may include the following: - Surgery to remove the testicle, followed by combination chemotherapy. If there are tumors remaining after chemotherapy, treatment may be one of the following: - Surveillance with no treatment unless tumors grow. - Surveillance for tumors smaller than 3 centimeters and surgery to remove tumors larger than 3 centimeters. - A PET scan two months after chemotherapy and surgery to remove tumors that show up with cancer on the scan. - A clinical trial of chemotherapy. Treatment of nonseminoma may include the following: - Surgery to remove the testicle, followed by combination chemotherapy. - Combination chemotherapy followed by surgery to remove the testicle and all remaining tumors. Additional chemotherapy may be given if the tumor tissue removed contains cancer cells that are growing or if follow-up tests show that cancer is progressing. - Combination chemotherapy before surgery to remove the testicle, for cancer that has spread and is thought to be life-threatening. - A clinical trial of chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III testicular cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Testicular Cancer +what research (or clinical trials) is being done for Testicular Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Testicular Cancer +How to prevent Anal Cancer ?,"Key Points + - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for anal cancer: - Anal HPV infection - Certain medical conditions - History of cervical, vaginal, or vulvar cancer - HIV infection/AIDS - Immunosuppression - Certain sexual practices - Cigarette smoking - The following protective factor decreases the risk of anal cancer: - HPV vaccine - It is not clear if the following protective factor decreases the risk of anal cancer: - Condom use - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent anal cancer are being studied in clinical trials. + + + Avoiding risk factors and increasing protective factors may help prevent cancer. + Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. + + + The following are risk factors for anal cancer: + Anal HPV infection Being infected with human papillomavirus (HPV) is the main risk factor for anal cancer. Being infected with HPV can lead to squamous cell carcinoma of the anus, the most common type of anal cancer. About nine out of every ten cases of anal cancer are found in patients with anal HPV infection. Patients with healthy immune systems are usually able to fight HPV infections. Patients with weakened immune systems who are infected with HPV have a higher risk of anal cancer. Certain medical conditions History of cervical, vaginal, or vulvar cancer Cervical cancer, vaginal cancer, and vulvar cancer are related to HPV infection. Women who have had cervical, vaginal, or vulvar cancer have a higher risk of anal cancer. HIV infection/AIDS Being infected with human immunodeficiency virus (HIV) is a strong risk factor for anal cancer. HIV is the cause of acquired immunodeficiency syndrome (AIDS). HIV weakens the body's immune system and its ability to fight infection. HPV infection of the anus is common among patients who are HIV-positive. The risk of anal cancer is higher in men who are HIV-positive and have sex with men compared with men who are HIV-negative and have sex with men. Women who are HIV-positive also have an increased risk of anal cancer compared with women who are HIV-negative. Studies show that intravenous drug use or cigarette smoking may further increase the risk of anal cancer in patients who are HIV-positive. Immunosuppression Immunosuppression is a condition that weakens the body's immune system and its ability to fight infections and other diseases. Chronic (long-term) immunosuppression may increase the risk of anal cancer because it lowers the body's ability to fight HPV infection. Patients who have an organ transplant and receive immunosuppressive medicine to prevent organ rejection have an increased risk of anal cancer. Having an autoimmune disorder such as Crohn disease or psoriasis may increase the risk of anal cancer. It is not clear if the increased risk is due to the autoimmune condition, the treatment for the condition, or a combination of both. Certain sexual practices The following sexual practices increase the risk of anal cancer because they increase the chance of being infected with HPV: - Having receptive anal intercourse (anal sex). - Having many sexual partners. - Sex between men. Men and women who have a history of anal warts or other sexually transmitted diseases also have an increased risk of anal cancer. Cigarette smoking Studies show that cigarette smoking increases the risk of anal cancer. Studies also show that current smokers have a higher risk of anal cancer than smokers who have quit or people who have never smoked. + + + The following protective factor decreases the risk of anal cancer: + HPV vaccine The human papillomavirus (HPV) vaccine is used to prevent anal cancer, cervical cancer, vulvar cancer, and vaginal cancer caused by HPV. It is also used to prevent lesions caused by HPV that may become cancer in the future. Studies show that being vaccinated against HPV lowers the risk of anal cancer. The vaccine may work best when it is given before a person is exposed to HPV. + + + It is not clear if the following protective factor decreases the risk of anal cancer: + Condom use It is not known if the use of condoms protects against anal HPV infection. This is because not enough studies have been done to prove this. + + + Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent anal cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials for anal cancer prevention can be found in the Clinical Trials section of the NCI Web site.",CancerGov,Anal Cancer +What is (are) Langerhans Cell Histiocytosis ?,"Key Points + - Langerhans cell histiocytosis is a type of cancer that can damage tissue or cause lesions to form in one or more places in the body. - Family history or having a parent who was exposed to certain chemicals may increase the risk of LCH. - The signs and symptoms of LCH depend on where it is in the body. - Skin and nails - Mouth - Bone - Lymph nodes and thymus - Endocrine system - Central nervous system (CNS) - Liver and spleen - Lung - Bone marrow - Tests that examine the organs and body systems where LCH may occur are used to detect (find) and diagnose LCH. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Langerhans cell histiocytosis is a type of cancer that can damage tissue or cause lesions to form in one or more places in the body. + Langerhans cell histiocytosis (LCH) is a rare cancer that begins in LCH cells (a type of dendritic cell which fights infection). Sometimes there are mutations (changes) in LCH cells as they form. These include mutations of the BRAF gene. These changes may make the LCH cells grow and multiply quickly. This causes LCH cells to build up in certain parts of the body, where they can damage tissue or form lesions. LCH is not a disease of the Langerhans cells that normally occur in the skin. LCH may occur at any age, but is most common in young children. Treatment of LCH in children is different from treatment of LCH in adults. The treatments for LCH in children and adults are described in separate sections of this summary. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood Langerhans cell histiocytosis. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.",CancerGov,Langerhans Cell Histiocytosis +Who is at risk for Langerhans Cell Histiocytosis? ?,"Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for LCH include the following: - Having a parent who was exposed to certain chemicals such as benzene. - Having a parent who was exposed to metal, granite, or wood dust in the workplace. - A family history of cancer, including LCH. - Having infections as a newborn. - Having a personal history or family history of thyroid disease. - Smoking, especially in young adults. - Being Hispanic.",CancerGov,Langerhans Cell Histiocytosis +What are the symptoms of Langerhans Cell Histiocytosis ?,"These and other signs and symptoms may be caused by LCH or by other conditions. Check with your doctor if you or your child have any of the following: Skin and nails LCH in infants may affect the skin only. In some cases, skin-only LCH may get worse over weeks or months and become a form called high-risk multisystem LCH. In infants, signs or symptoms of LCH that affects the skin may include: - Flaking of the scalp that may look like cradle cap. - Raised, brown or purple skin rash anywhere on the body. In children and adults, signs or symptoms of LCH that affects the skin and nails may include: - Flaking of the scalp that may look like dandruff. - Raised, red or brown, crusted rash in the groin area, abdomen, back, or chest, that may be itchy. - Bumps or ulcers on the scalp. - Ulcers behind the ears, under the breasts, or in the groin area. - Fingernails that fall off or have discolored grooves that run the length of the nail. Mouth Signs or symptoms of LCH that affects the mouth may include: - Swollen gums. - Sores on the roof of the mouth, inside the cheeks, or on the tongue or lips. - Teeth that become uneven. - Tooth loss. Bone Signs or symptoms of LCH that affects the bone may include: - Swelling or a lump over a bone, such as the skull, ribs, spine, thigh bone, upper arm bone, elbow, eye socket, or bones around the ear. - Pain where there is swelling or a lump over a bone. Children with LCH lesions in bones around the ears or eyes have a high risk for diabetes insipidus and other central nervous system disease. Lymph nodes and thymus Signs or symptoms of LCH that affects the lymph nodes or thymus may include: - Swollen lymph nodes. - Trouble breathing. - Superior vena cava syndrome. This can cause coughing, trouble breathing, and swelling of the face, neck, and upper arms. Endocrine system Signs or symptoms of LCH that affects the pituitary gland may include: - Diabetes insipidus. This can cause a strong thirst and frequent urination. - Slow growth. - Early or late puberty. - Being very overweight. Signs or symptoms of LCH that affects the thyroid may include: - Swollen thyroid gland. - Hypothyroidism. This can cause tiredness, lack of energy, being sensitive to cold, constipation, dry skin, thinning hair, memory problems, trouble concentrating, and depression. In infants, this can also cause a loss of appetite and choking on food. In children and adolescents, this can also cause behavior problems, weight gain, slow growth, and late puberty. - Trouble breathing. Central nervous system (CNS) Signs or symptoms of LCH that affects the CNS (brain and spinal cord) may include: - Loss of balance, uncoordinated body movements, and trouble walking. - Trouble speaking. - Trouble seeing. - Headaches. - Changes in behavior or personality. - Memory problems. These signs and symptoms may be caused by lesions in the CNS or by CNS neurodegenerative syndrome. Liver and spleen Signs or symptoms of LCH that affects the liver or spleen may include: - Swelling in the abdomen caused by a buildup of extra fluid. - Trouble breathing. - Yellowing of the skin and whites of the eyes. - Itching. - Easy bruising or bleeding. - Feeling very tired. Lung Signs or symptoms of LCH that affects the lung may include: - Collapsed lung. This condition can cause chest pain or tightness, trouble breathing, feeling tired, and a bluish color to the skin. - Trouble breathing, especially in adults who smoke. - Dry cough. - Chest pain. Bone marrow Signs or symptoms of LCH that affects the bone marrow may include: - Easy bruising or bleeding. - Fever. - Frequent infections.",CancerGov,Langerhans Cell Histiocytosis +How to diagnose Langerhans Cell Histiocytosis ?,"The following tests and procedures may be used to detect (find) and diagnose LCH or conditions caused by LCH: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - The number and type of white blood cells. - The number of red blood cells and platelets. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the body by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function test : A blood test to measure the blood levels of certain substances released by the liver. A high or low level of these substances can be a sign of disease in the liver. - BRAF gene testing : A laboratory test in which a sample of blood or tissue is tested for mutations of the BRAF gene. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, red blood cells, and white blood cells. - Water deprivation test : A test to check how much urine is made and whether it becomes concentrated when little or no water is given. This test is used to diagnose diabetes insipidus, which may be caused by LCH. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. A pathologist views the bone marrow and bone under a microscope to look for signs of LCH. The following tests may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, how many cells are live, and the size of the cells. It also shows the shapes of the cells and whether there are tumor markers on the surface of the cells. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Bone scan : A procedure to check if there are rapidly dividing cells in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. Sometimes a skeletal survey is done. This is a procedure to x-ray all of the bones in the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium may be injected into a vein. The gadolinium collects around the LCH cells so that they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas in the gastrointestinal tract or lungs. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for LCH cells. To diagnose LCH, a biopsy of bone lesions, skin, lymph nodes, or the liver may be done.",CancerGov,Langerhans Cell Histiocytosis +What is the outlook for Langerhans Cell Histiocytosis ?,"LCH in organs such as the skin, bones, lymph nodes, or pituitary gland usually gets better with treatment and is called ""low- risk"". LCH in the spleen, liver, or bone marrow is harder to treat and is called ""high-risk"". The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are mutations of the BRAF gene. - How old the patient is when diagnosed with LCH. - How many organs or body systems the cancer affects. - Whether the cancer is found in the liver, spleen, bone marrow, or certain bones in the skull. - How quickly the cancer responds to initial treatment. - Whether the cancer has just been diagnosed or has come back (recurred). In infants up to one year of age, LCH may go away without treatment.",CancerGov,Langerhans Cell Histiocytosis +What are the stages of Langerhans Cell Histiocytosis ?,"Key Points + - There is no staging system for Langerhans cell histiocytosis (LCH). - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. + + + There is no staging system for Langerhans cell histiocytosis (LCH). + The extent or spread of cancer is usually described as stages. There is no staging system for LCH. + + + Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. + LCH is described as single-system disease or multisystem disease, depending on how many body systems are affected: - Single-system LCH: LCH is found in one part of an organ or body system (unifocal) or in more than one part of that organ or body system (multifocal). Bone is the most common single place for LCH to be found. - Multisystem LCH: LCH occurs in two or more organs or body systems or may be spread throughout the body. Multisystem LCH is less common than single-system LCH. LCH may affect low-risk organs or high-risk organs: - Low-risk organs include the skin, bone, lungs, lymph nodes, gastrointestinal tract, pituitary gland, and central nervous system (CNS). - High-risk organs include the liver, spleen, and bone marrow.",CancerGov,Langerhans Cell Histiocytosis +What are the treatments for Langerhans Cell Histiocytosis ?,"Key Points + - There are different types of treatment for patients with Langerhans cell histiocytosis (LCH). - Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. - Some cancer treatments cause side effects months or years after treatment for childhood cancer has ended. - Nine types of standard treatment are used: - Chemotherapy - Surgery - Radiation therapy - Photodynamic therapy - Biologic therapy - Targeted therapy - Other drug therapy - Stem cell transplant - Observation - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - When treatment of LCH stops, new lesions may appear or old lesions may come back. - Follow-up tests may be needed. + + + There are different types of treatment for patients with Langerhans cell histiocytosis (LCH). + Different types of treatments are available for patients with LCH. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Whenever possible, patients should take part in a clinical trial in order to receive new types of treatment for LCH. Some clinical trials are open only to patients who have not started treatment. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate treatment is a decision that ideally involves the patient, family, and health care team. + + + Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric healthcare providers who are experts in treating children with LCH and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Primary care physician. - Pediatric surgeon. - Pediatric hematologist. - Radiation oncologist. - Neurologist. - Endocrinologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. + + + Some cancer treatments cause side effects months or years after treatment for childhood cancer has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Slow growth and development. - Hearing loss. - Bone, tooth, liver, and lung problems. - Changes in mood, feeling, learning, thinking, or memory. - Second cancers, such as leukemia, retinoblastoma, Ewing sarcoma, brain or liver cancer. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.) Many patients with multisystem LCH have late effects caused by treatment or by the disease itself. These patients often have long-term health problems that affect their quality of life. + + + Nine types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly onto the skin or into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Chemotherapy agents given by injection or by mouth are used to treat LCH. Chemotherapy agents include vinblastine, cytarabine, cladribine, and methotrexate. Nitrogen mustard is a drug that is put directly on the skin to treat small LCH lesions. Surgery Surgery may be used to remove LCH lesions and a small amount of nearby healthy tissue. Curettage is a type of surgery that uses a curette (a sharp, spoon-shaped tool) to scrape LCH cells from bone. When there is severe liver or lung damage, the entire organ may be removed and replaced with a healthy liver or lung from a donor. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. External radiation therapy uses a machine outside the body to send radiation toward the cancer. In LCH, a special lamp may be used to send ultraviolet B (UVB) radiation toward LCH skin lesions. Photodynamic therapy Photodynamic therapy is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. For LCH, laser light is aimed at the skin and the drug becomes active and kills the cancer cells. Photodynamic therapy causes little damage to healthy tissue. Patients who have photodynamic therapy should not spend too much time in the sun. In one type of photodynamic therapy, called psoralen and ultraviolet A (PUVA) therapy, the patient receives a drug called psoralen and then ultraviolet A radiation is directed to the skin. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon is a type of biologic therapy used to treat LCH of the skin. Immunomodulators are also a type of biologic therapy. Thalidomide is an immunomodulator used to treat LCH. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to find and attack LCH cells without harming normal cells. Imatinib mesylate is a type of targeted therapy called a tyrosine kinase inhibitor. It stops blood stem cells from turning into dendritic cells that may become cancer cells. Other types of kinase inhibitors that affect cells with mutations (changes) in the BRAF gene, such as dabrafenib and vemurafenib, are being studied in clinical trials for LCH. A family of genes, called ras genes, may cause cancer when they are mutated. Ras genes make proteins that are involved in cell signaling pathways, cell growth, and cell death. Ras pathway inhibitors are a type of targeted therapy being studied in clinical trials. They block the actions of a mutated ras gene or its protein and may stop the growth of cancer. Other drug therapy Other drugs used to treat LCH include the following: - Steroid therapy, such as prednisone, is used to treat LCH lesions. - Bisphosphonate therapy (such as pamidronate, zoledronate, or alendronate) is used to treat LCH lesions of the bone and to lessen bone pain. - Nonsteroidal anti-inflammatory drugs (NSAIDs) are drugs (such as aspirin and ibuprofen) that are commonly used to decrease fever, swelling, pain, and redness. Sometimes an NSAID called indomethacin is used to treat LCH. - Retinoids, such as isotretinoin, are drugs related to vitamin A that can slow the growth of LCH cells in the skin. The retinoids are taken by mouth. Stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the LCH treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Observation Observation is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options for Childhood LCH and the Treatment Options for Adult LCH sections for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database. + + + When treatment of LCH stops, new lesions may appear or old lesions may come back. + Many patients with LCH get better with treatment. However, when treatment stops, new lesions may appear or old lesions may come back. This is called reactivation (recurrence) and may occur within one year after stopping treatment. Patients with multisystem disease are more likely to have a reactivation. More common sites of reactivation are bone, ears, or skin. Diabetes insipidus also may develop. Less common sites of reactivation include lymph nodes, bone marrow, spleen, liver, or lung. Some patients may have more than one reactivation over a number of years. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose LCH may be repeated. This is to see how well the treatment is working and if there are any new lesions. These tests may include: - Physical exam. - Neurological exam. - Ultrasound exam. - MRI. - CT scan. - PET scan. Other tests that may be needed include: - Brain stem auditory evoked response (BAER) test: A test that measures the brain's response to clicking sounds or certain tones. - Pulmonary function test (PFT): A test to see how well the lungs are working. It measures how much air the lungs can hold and how quickly air moves into and out of the lungs. It also measures how much oxygen is used and how much carbon dioxide is given off during breathing. This is also called a lung function test. - Chest x-ray: An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for LCH in Children + + + Treatment of Low-Risk Disease in Children + Skin Lesions Treatment of childhood Langerhans cell histiocytosis (LCH) skin lesions may include the following: - Observation. When severe rashes, pain, ulceration, or bleeding occur, treatment may include the following: - Steroid therapy. - Chemotherapy, given by mouth. - Nitrogen mustard applied to the skin. - Photodynamic therapy with psoralen and ultraviolet A (PUVA) therapy. - UVB radiation therapy. Lesions in Bones or Other Low-Risk Organs Treatment of childhood LCH bone lesions in the front, sides, or back of the skull, or in any other single bone may include the following: - Surgery (curettage) with or without steroid therapy. - Low-dose radiation therapy for lesions that affect nearby organs. Treatment of childhood LCH lesions in bones around the ears or eyes is done to lower the risk of diabetes insipidus and other long-term problems. Treatment may include: - Chemotherapy and steroid therapy. - Surgery (curettage). Treatment of childhood LCH lesions of the spine or thigh bone lesions may include: - Observation. - Low-dose radiation therapy. - Chemotherapy, for lesions that spread from the spine into nearby tissue. - Surgery to strengthen the weakened bone by bracing or fusing the bones together. Treatment of two or more bone lesions may include: - Chemotherapy and steroid therapy. Treatment of two or more bone lesions combined with childhood LCH skin lesions, lymph node lesions, or diabetes insipidus may include: - Chemotherapy with or without steroid therapy. - Bisphosphonate therapy. + + + Treatment of High-Risk Disease in Children + Treatment of childhood LCH multisystem disease lesions in the spleen, liver, or bone marrow (with or without skin, bone, lymph node, lung, or pituitary gland lesions) may include: - Chemotherapy and steroid therapy. Higher doses of combination chemotherapy and steroid therapy may be given to patients whose tumors do not respond to initial chemotherapy. - A liver transplant for patients with severe liver damage. Treatment of childhood LCH central nervous system (CNS) lesions may include: - Chemotherapy with or without steroid therapy. - Steroid therapy. Treatment of LCH CNS neurodegenerative syndrome may include: - Retinoid therapy. - Chemotherapy. + + + Treatment Options for Recurrent, Refractory, and Progressive Childhood LCH in Children + Recurrent LCH is cancer that cannot be detected for some time after treatment and then comes back. Treatment of recurrent childhood LCH in the skin, bone, lymph nodes, gastrointestinal tract, pituitary gland, or central nervous system (low-risk organs) may include: - Chemotherapy with or without steroid therapy. - Bisphosphonate therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy with indomethacin. - A clinical trial of a targeted therapy. Refractory LCH is cancer that does not get better with treatment. Treatment of refractory childhood LCH in high-risk organs and in multisystem low-risk organs may include high-dose chemotherapy. Treatment of childhood LCH in multisystem high-risk organs that did not respond to chemotherapy may include stem cell transplant. Progressive LCH is cancer that continues to grow during treatment. Treatment of progressive childhood LCH in patients with multisystem disease may include anticancer drugs that have not been given to the patient before. + + + + + Treatment Options for LCH in Adults + + + Treatment Options for LCH of the Lung in Adults + Treatment for LCH of the lung in adults may include: - Quitting smoking for all patients who smoke. Lung damage will get worse over time in patients who do not quit smoking. In patients who quit smoking, lung damage may get better or it may get worse over time. - Chemotherapy. - Lung transplant for patients with severe lung damage. Sometimes LCH of the lung will go away or not get worse even if it's not treated. + + + Treatment Options for LCH of the Bone in Adults + Treatment for LCH that affects only the bone in adults may include: - Surgery with or without steroid therapy. - Chemotherapy with or without low-dose radiation therapy. - Radiation therapy. - Bisphosphonate therapy, for severe bone pain. + + + Treatment Options for LCH of the Skin in Adults + Treatment for LCH that affects only the skin in adults may include: - Surgery. - Steroid or other drug therapy applied or injected into the skin. - Photodynamic therapy with psoralen and ultraviolet A (PUVA) radiation. - UVB radiation therapy. - Chemotherapy or biologic therapy given by mouth, such as methotrexate, thalidomide, or interferon. - Retinoid therapy may be used if the skin lesions do not get better with other treatment. Treatment for LCH that affects the skin and other body systems in adults may include: - Chemotherapy. + + + Treatment Options for Single-System and Multisystem LCH in Adults + Treatment of single-system and multisystem disease in adults may include: - Chemotherapy with or without a drug given to weaken the immune system. - Bisphosphonate therapy, for severe bone pain. - A clinical trial of a targeted therapy.",CancerGov,Langerhans Cell Histiocytosis +what research (or clinical trials) is being done for Langerhans Cell Histiocytosis ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options for Childhood LCH and the Treatment Options for Adult LCH sections for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database.",CancerGov,Langerhans Cell Histiocytosis +What is (are) Paranasal Sinus and Nasal Cavity Cancer ?,"Key Points + - Paranasal sinus and nasal cavity cancer is a disease in which malignant (cancer) cells form in the tissues of the paranasal sinuses and nasal cavity. - Different types of cells in the paranasal sinus and nasal cavity may become malignant. - Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. - Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. - Tests that examine the sinuses and nasal cavity are used to detect (find) and diagnose paranasal sinus and nasal cavity cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Paranasal sinus and nasal cavity cancer is a disease in which malignant (cancer) cells form in the tissues of the paranasal sinuses and nasal cavity. + Paranasal sinuses ""Paranasal"" means near the nose. The paranasal sinuses are hollow, air-filled spaces in the bones around the nose. The sinuses are lined with cells that make mucus, which keeps the inside of the nose from drying out during breathing. There are several paranasal sinuses named after the bones that surround them: - The frontal sinuses are in the lower forehead above the nose. - The maxillary sinuses are in the cheekbones on either side of the nose. - The ethmoid sinuses are beside the upper nose, between the eyes. - The sphenoid sinuses are behind the nose, in the center of the skull. Nasal cavity The nose opens into the nasal cavity, which is divided into two nasal passages. Air moves through these passages during breathing. The nasal cavity lies above the bone that forms the roof of the mouth and curves down at the back to join the throat. The area just inside the nostrils is called the nasal vestibule. A small area of special cells in the roof of each nasal passage sends signals to the brain to give the sense of smell. Together the paranasal sinuses and the nasal cavity filter and warm the air, and make it moist before it goes into the lungs. The movement of air through the sinuses and other parts of the respiratory system help make sounds for talking. Paranasal sinus and nasal cavity cancer is a type of head and neck cancer. + + + Different types of cells in the paranasal sinus and nasal cavity may become malignant. + The most common type of paranasal sinus and nasal cavity cancer is squamous cell carcinoma. This type of cancer forms in the squamous cells (thin, flat cells) lining the inside of the paranasal sinuses and the nasal cavity. Other types of paranasal sinus and nasal cavity cancer include the following: - Melanoma: Cancer that starts in cells called melanocytes, the cells that give skin its natural color. - Sarcoma: Cancer that starts in muscle or connective tissue. - Inverting papilloma: Benign tumors that form inside the nose. A small number of these change into cancer. - Midline granulomas: Cancer of tissues in the middle part of the face.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +Who is at risk for Paranasal Sinus and Nasal Cavity Cancer? ?,"Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for paranasal sinus and nasal cavity cancer include the following: - Being exposed to certain workplace chemicals or dust, such as those found in the following jobs: - Furniture-making. - Sawmill work. - Woodworking (carpentry). - Shoemaking. - Metal-plating. - Flour mill or bakery work. - Being infected with human papillomavirus (HPV). - Being male and older than 40 years. - Smoking.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +What are the symptoms of Paranasal Sinus and Nasal Cavity Cancer ?,"Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. These and other signs and symptoms may be caused by paranasal sinus and nasal cavity cancer or by other conditions. There may be no signs or symptoms in the early stages. Signs and symptoms may appear as the tumor grows. Check with your doctor if you have any of the following: - Blocked sinuses that do not clear, or sinus pressure. - Headaches or pain in the sinus areas. - A runny nose. - Nosebleeds. - A lump or sore inside the nose that does not heal. - A lump on the face or roof of the mouth. - Numbness or tingling in the face. - Swelling or other trouble with the eyes, such as double vision or the eyes pointing in different directions. - Pain in the upper teeth, loose teeth, or dentures that no longer fit well. - Pain or pressure in the ear.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +How to diagnose Paranasal Sinus and Nasal Cavity Cancer ?,"Tests that examine the sinuses and nasal cavity are used to detect (find) and diagnose paranasal sinus and nasal cavity cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Physical exam of the nose, face, and neck: An exam in which the doctor looks into the nose with a small, long-handled mirror to check for abnormal areas and checks the face and neck for lumps or swollen lymph nodes. - X-rays of the head and neck: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. There are three types of biopsy: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Incisional biopsy : The removal of part of an area of tissue that doesnt look normal. - Excisional biopsy : The removal of an entire area of tissue that doesnt look normal. - Nasoscopy : A procedure to look inside the nose for abnormal areas. A nasoscope is inserted into the nose. A nasoscope is a thin, tube-like instrument with a light and a lens for viewing. A special tool on the nasoscope may be used to remove samples of tissue. The tissues samples are viewed under a microscope by a pathologist to check for signs of cancer. - Laryngoscopy : A procedure to look at the larynx (voice box) for abnormal areas. A mirror or a laryngoscope (a thin, tube-like instrument with a light and a lens for viewing) is inserted through the mouth to see the larynx. A special tool on the laryngoscope may be used to remove samples of tissue. The tissue samples are viewed under a microscope by a pathologist to check for signs of cancer.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +What is the outlook for Paranasal Sinus and Nasal Cavity Cancer ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the tumor is in the paranasal sinus or nasal cavity and whether it has spread. - The size of the tumor. - The type of cancer. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). Paranasal sinus and nasal cavity cancers often have spread by the time they are diagnosed and are hard to cure. After treatment, a lifetime of frequent and careful follow-up is important because there is an increased risk of developing a second kind of cancer in the head or neck.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +What are the stages of Paranasal Sinus and Nasal Cavity Cancer ?,"Key Points + - After paranasal sinus and nasal cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the paranasal sinuses and nasal cavity or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no standard staging system for cancer of the sphenoid and frontal sinuses. - The following stages are used for maxillary sinus cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - The following stages are used for nasal cavity and ethmoid sinus cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV + + + After paranasal sinus and nasal cavity cancer has been diagnosed, tests are done to find out if cancer cells have spread within the paranasal sinuses and nasal cavity or to other parts of the body. + The process used to find out if cancer has spread within the paranasal sinuses and nasal cavity or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an opening in the body, such as the nose or mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. Sometimes a substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if nasal cavity cancer spreads to the lung, the cancer cells in the lung are actually nasal cavity cancer cells. The disease is metastatic nasal cavity cancer, not lung cancer. + + + There is no standard staging system for cancer of the sphenoid and frontal sinuses. + + + + The following stages are used for maxillary sinus cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the innermost lining of the maxillary sinus. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed in the mucous membranes of the maxillary sinus. Stage II In stage II, cancer has spread to bone around the maxillary sinus, including the roof of the mouth and the nose, but not to bone at the back of the maxillary sinus or the base of the skull. Stage III In stage III, cancer has spread to any of the following: - Bone at the back of the maxillary sinus. - Tissues under the skin. - The eye socket. - The base of the skull. - The ethmoid sinuses. or Cancer has spread to one lymph node on the same side of the neck as the cancer and the lymph node is 3 centimeters or smaller. Cancer has also spread to any of the following: - The lining of the maxillary sinus. - Bones around the maxillary sinus, including the roof of the mouth and the nose. - Tissues under the skin. - The eye socket. - The base of the skull. - The ethmoid sinuses. Stage IV Stage IV is divided into stage IVA, IVB, and IVC. Stage IVA In stage IVA, cancer has spread: - to one lymph node on the same side of the neck as the cancer and the lymph node is larger than 3 centimeters but not larger than 6 centimeters; or - to more than one lymph node on the same side of the neck as the original tumor and the lymph nodes are not larger than 6 centimeters; or - to lymph nodes on the opposite side of the neck as the original tumor or on both sides of the neck, and the lymph nodes are not larger than 6 centimeters. and cancer has spread to any of the following: - The lining of the maxillary sinus. - Bones around the maxillary sinus, including the roof of the mouth and the nose. - Tissues under the skin. - The eye socket. - The base of the skull. - The ethmoid sinuses. or Cancer has spread to any of the following: - The front of the eye. - The skin of the cheek. - The base of the skull. - Behind the jaw. - The bone between the eyes. - The sphenoid or frontal sinuses. and cancer may also have spread to one or more lymph nodes 6 centimeters or smaller, anywhere in the neck. Stage IVB In stage IVB, cancer has spread to any of the following: - The back of the eye. - The brain. - The middle parts of the skull. - The nerves in the head that go to the brain. - The upper part of the throat behind the nose. - The base of the skull. and cancer may be found in one or more lymph nodes of any size, anywhere in the neck. or Cancer is found in a lymph node larger than 6 centimeters. Cancer may also be found anywhere in or near the maxillary sinus. Stage IVC In stage IVC, cancer may be anywhere in or near the maxillary sinus, may have spread to lymph nodes, and has spread to organs far away from the maxillary sinus, such as the lungs. + + + The following stages are used for nasal cavity and ethmoid sinus cancer: + Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the innermost lining of the nasal cavity or ethmoid sinus. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and is found in only one area (of either the nasal cavity or the ethmoid sinus) and may have spread into bone. Stage II In stage II, cancer is found in two areas (of either the nasal cavity or the ethmoid sinus) that are near each other or has spread to an area next to the sinuses. Cancer may also have spread into bone. Stage III In stage III, cancer has spread to any of the following: - The eye socket. - The maxillary sinus. - The roof of the mouth. - The bone between the eyes. or Cancer has spread to one lymph node on the same side of the neck as the cancer and the lymph node is 3 centimeters or smaller. Cancer has also spread to any of the following: - The nasal cavity. - The ethmoid sinus. - The eye socket. - The maxillary sinus. - The roof of the mouth. - The bone between the eyes. Stage IV Stage IV is divided into stage IVA, IVB, and IVC. Stage IVA In stage IVA, cancer has spread: - to one lymph node on the same side of the neck as the cancer and the lymph node is larger than 3 centimeters but not larger than 6 centimeters; or - to more than one lymph node on the same side of the neck as the original tumor and the lymph nodes are not larger than 6 centimeters; or - to lymph nodes on the opposite side of the neck as the original tumor or on both sides of the neck, and the lymph nodes are not larger than 6 centimeters. and cancer has spread to any of the following: - The nasal cavity. - The ethmoid sinus. - The eye socket. - The maxillary sinus. - The roof of the mouth. - The bone between the eyes. or Cancer has spread to any of the following: - The front of the eye. - The skin of the nose or cheek. - Front parts of the skull. - The base of the skull. - The sphenoid or frontal sinuses. and cancer may have spread to one or more lymph nodes 6 centimeters or smaller, anywhere in the neck. Stage IVB In stage IVB, cancer has spread to any of the following: - The back of the eye. - The brain. - The middle parts of the skull. - The nerves in the head that go to the brain. - The upper part of the throat behind the nose. - The base of the skull. and cancer may be found in one or more lymph nodes of any size, anywhere in the neck. or Cancer is found in a lymph node larger than 6 centimeters. Cancer may also be found anywhere in or near the nasal cavity and ethmoid sinus. Stage IVC In stage IVC, cancer may be anywhere in or near the nasal cavity and ethmoid sinus, may have spread to lymph nodes, and has spread to organs far away from the nasal cavity and ethmoid sinus, such as the lungs.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +What are the treatments for Paranasal Sinus and Nasal Cavity Cancer ?,"Key Points + - There are different types of treatment for patients with paranasal sinus and nasal cavity cancer. - Patients with paranasal sinus and nasal cavity cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with paranasal sinus and nasal cavity cancer. + Different types of treatment are available for patients with paranasal sinus and nasal cavity cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Patients with paranasal sinus and nasal cavity cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. + Treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. The medical oncologist works with other doctors who are experts in treating patients with head and neck cancer and who specialize in certain areas of medicine and rehabilitation. Patients who have paranasal sinus and nasal cavity cancer may need special help adjusting to breathing problems or other side effects of the cancer and its treatment. If a large amount of tissue or bone around the paranasal sinuses or nasal cavity is taken out, plastic surgery may be done to repair or rebuild the area. The treatment team may include the following specialists: - Radiation oncologist. - Neurologist. - Oral surgeon or head and neck surgeon. - Plastic surgeon. - Dentist. - Nutritionist. - Speech and language pathologist. - Rehabilitation specialist. + + + Three types of standard treatment are used: + Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of paranasal sinus and nasal cavity cancer. A doctor may remove the cancer and some of the healthy tissue and bone around the cancer. If the cancer has spread, the doctor may remove lymph nodes and other tissues in the neck. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. The total dose of radiation therapy is sometimes divided into several smaller, equal doses delivered over a period of several days. This is called fractionation. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat paranasal sinus and nasal cavity cancer. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. The thyroid hormone levels in the blood may be tested before and after treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Head and Neck Cancer for more information. (Paranasal sinus and nasal cavity cancer is a type of head and neck cancer.) + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage I Paranasal Sinus and Nasal Cavity Cancer + Treatment of stage I paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity: - If cancer is in the maxillary sinus, treatment is usually surgery with or without radiation therapy. - If cancer is in the ethmoid sinus, treatment is usually radiation therapy and/or surgery. - If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) - If cancer is in the nasal cavity, treatment is usually surgery and/or radiation therapy. - If cancer is in the nasal vestibule, treatment is usually surgery or radiation therapy. - For inverting papilloma, treatment is usually surgery with or without radiation therapy. - For melanoma and sarcoma, treatment is usually surgery with or without radiation therapy and chemotherapy. - For midline granuloma, treatment is usually radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Paranasal Sinus and Nasal Cavity Cancer + Treatment of stage II paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity: - If cancer is in the maxillary sinus, treatment is usually high-dose radiation therapy before or after surgery. - If cancer is in the ethmoid sinus, treatment is usually radiation therapy and/or surgery. - If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) - If cancer is in the nasal cavity, treatment is usually surgery and/or radiation therapy. - If cancer is in the nasal vestibule, treatment is usually surgery or radiation therapy. - For inverting papilloma, treatment is usually surgery with or without radiation therapy. - For melanoma and sarcoma, treatment is usually surgery with or without radiation therapy and chemotherapy. - For midline granuloma, treatment is usually radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage III Paranasal Sinus and Nasal Cavity Cancer + Treatment of stage III paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity. If cancer is in the maxillary sinus, treatment may include the following: - High-dose radiation therapy before or after surgery. - A clinical trial of fractionated radiation therapy before or after surgery. If cancer is in the ethmoid sinus, treatment may include the following: - Surgery followed by radiation therapy. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) If cancer is in the nasal cavity, treatment may include the following: - Surgery and/or radiation therapy. - Chemotherapy and radiation therapy. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. For inverting papilloma, treatment is usually surgery with or without radiation therapy. For melanoma and sarcoma, treatment may include the following: - Surgery. - Radiation therapy. - Surgery, radiation therapy, and chemotherapy. For midline granuloma, treatment is usually radiation therapy. If cancer is in the nasal vestibule, treatment may include the following: - External radiation therapy and/or internal radiation therapy with or without surgery. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Paranasal Sinus and Nasal Cavity Cancer + Treatment of stage IV paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity. If cancer is in the maxillary sinus, treatment may include the following: - High-dose radiation therapy with or without surgery. - A clinical trial of fractionated radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. If cancer is in the ethmoid sinus, treatment may include the following: - Radiation therapy before or after surgery. - Chemotherapy and radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) If cancer is in the nasal cavity, treatment may include the following: - Surgery and/or radiation therapy. - Chemotherapy and radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. For inverting papilloma, treatment is usually surgery with or without radiation therapy. For melanoma and sarcoma, treatment may include the following: - Surgery. - Radiation therapy. - Chemotherapy. For midline granuloma, treatment is usually radiation therapy. If cancer is in the nasal vestibule, treatment may include the following: - External radiation therapy and/or internal radiation therapy with or without surgery. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +what research (or clinical trials) is being done for Paranasal Sinus and Nasal Cavity Cancer ?,"New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",CancerGov,Paranasal Sinus and Nasal Cavity Cancer +What is (are) Campylobacter Infections ?,"Campylobacter infection is a common foodborne illness. You get it from eating raw or undercooked poultry. You can also get it from coming in contact with contaminated packages of poultry. Symptoms include - Diarrhea - Cramping - Abdominal pain - Fever - Nausea and vomiting Some infected people don't have any symptoms. The illness usually lasts one week. Most people get better without treatment. You should drink extra fluids for as long as the diarrhea lasts. Your doctor will decide whether you need to take antibiotics. To prevent campylobacter infection, cook poultry thoroughly. Use a separate cutting board and utensils for meats and clean them carefully with soap and hot water after use. Centers for Disease Control and Prevention",MPlusHealthTopics,Campylobacter Infections +What is (are) Stroke ?,"A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. ""Mini-strokes"" or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Stroke +What is (are) Anal Cancer ?,"The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. You are also at higher risk if you have HPV, have anal sex, or have many sexual partners. Symptoms include bleeding, pain, or lumps in the anal area. Anal itching and discharge can also be signs of anal cancer. Doctors use tests that examine the anus to diagnose anal cancer. They include a physical exam, endoscopy, ultrasound, and biopsy. Treatments include radiation therapy, chemotherapy, and surgery. NIH: National Cancer Institute",MPlusHealthTopics,Anal Cancer +What is (are) Pregnancy and Substance Abuse ?,"When you are pregnant, you are not just ""eating for two."" You also breathe and drink for two, so it is important to carefully consider what you give to your baby. If you smoke, use alcohol or take illegal drugs, so does your unborn baby. First, don't smoke. Smoking during pregnancy passes nicotine and cancer-causing drugs to your baby. Smoke also keeps your baby from getting nourishment and raises the risk of stillbirth or premature birth. Don't drink alcohol. There is no known safe amount of alcohol a woman can drink while pregnant. Alcohol can cause life-long physical and behavioral problems in children, including fetal alcohol syndrome. Don't use illegal drugs. Using illegal drugs may cause underweight babies, birth defects or withdrawal symptoms after birth. If you are pregnant and you smoke, drink alcohol or do drugs, get help. Your health care provider can recommend programs to help you quit. You and your baby will be better off. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Pregnancy and Substance Abuse +Do you have information about Radiation Therapy,"Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. The type of radiation therapy you receive depends on many factors, including - The type of cancer - The size of the cancer - The cancer's location in the body - How close the cancer is to normal tissues that are sensitive to radiation - How far into the body the radiation needs to travel - Your general health and medical history - Whether you will have other types of cancer treatment - Other factors, such as your age and other medical conditions Radiation therapy can damage normal cells as well as cancer cells. Treatment must be carefully planned to minimize side effects. Common side effects include skin changes and fatigue. Other side effects depend on the part of your body being treated. Sometimes radiation is used with other treatments, like surgery or chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Radiation Therapy +Do you have information about Rehabilitation,"Summary : After a serious injury, illness or surgery, you may recover slowly. You may need to regain your strength, relearn skills or find new ways of doing things you did before. This process is rehabilitation. Rehabilitation often focuses on - Physical therapy to help your strength, mobility and fitness - Occupational therapy to help you with your daily activities - Speech-language therapy to help with speaking, understanding, reading, writing and swallowing - Treatment of pain The type of therapy and goals of therapy may be different for different people. An older person who has had a stroke may simply want rehabilitation to be able to dress or bathe without help. A younger person who has had a heart attack may go through cardiac rehabilitation to try to return to work and normal activities. Someone with a lung disease may get pulmonary rehabilitation to be able to breathe better and improve their quality of life.",MPlusHealthTopics,Rehabilitation +Do you have information about Iron,"Summary : Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. Your body needs the right amount of iron. If you have too little iron, you may develop iron deficiency anemia. Causes of low iron levels include blood loss, poor diet, or an inability to absorb enough iron from foods. People at higher risk of having too little iron are young children and women who are pregnant or have periods. Too much iron can damage your body. Taking too many iron supplements can cause iron poisoning. Some people have an inherited disease called hemochromatosis. It causes too much iron to build up in the body. Centers for Disease Control and Prevention",MPlusHealthTopics,Iron +Do you have information about Pregnancy and Nutrition,"Summary : When you're pregnant, eating healthy foods is more important than ever. You need more protein, iron, calcium, and folic acid than you did before pregnancy. You also need more calories. But ""eating for two"" doesn't mean eating twice as much. It means that the foods you eat are the main source of nutrients for your baby. Sensible, balanced meals will be best for you and your baby. You should gain weight gradually during your pregnancy, with most of the weight gained in the last trimester. Generally, doctors suggest women gain weight at the following rate: - 2 to 4 pounds total during the first trimester - 3 to 4 pounds per month for the second and third trimesters Most women need 300 calories a day more during at least the last six months of pregnancy than they did before they were pregnant. But not all calories are equal. Your baby needs healthy foods that are packed with nutrients - not ""empty calories"" such as those found in soft drinks, candies, and desserts. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Pregnancy and Nutrition +What is (are) Interstitial Lung Diseases ?,"Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include - Black lung disease among coal miners, from inhaling coal dust - Farmer's lung, from inhaling farm dust - Asbestosis, from inhaling asbestos fibers - Siderosis, from inhaling iron from mines or welding fumes - Silicosis, from inhaling silica dust Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause. Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases.",MPlusHealthTopics,Interstitial Lung Diseases +Do you have information about Volcanoes,"Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis. Volcanic gas and ash can damage the lungs of small infants, older adults, and people with severe respiratory illnesses. Volcanic ash can affect people hundreds of miles away from the eruption. Although there are no guarantees of safety during a volcanic eruption, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Volcanoes +What is (are) Hiccups ?,"A hiccup is an unintentional movement of the diaphragm, the muscle at the base of the lungs. It's followed by quick closing of the vocal cords, which produces the ""hic"" sound you make. There are a large number of causes, including large meals, alcohol, or hot and spicy foods. Hiccups may also start and stop for no obvious reason. There is no sure way to stop hiccups. You can try - Breathing into a paper bag - Drinking or sipping a glass of cold water - Holding your breath Hiccups aren't usually serious. Contact your health care provider if they last for more than a few days.",MPlusHealthTopics,Hiccups +What is (are) Premenstrual Syndrome ?,"Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. They have a type of PMS called premenstrual dysphoric disorder, or PMDD. Common PMS symptoms include - Breast swelling and tenderness - Acne - Bloating and weight gain - Pain - headache or joint pain - Food cravings - Irritability, mood swings, crying spells, depression No one knows what causes PMS, but hormonal changes trigger the symptoms. No single PMS treatment works for everyone. Over-the-counter pain relievers such as ibuprofen, aspirin or naproxen may help ease cramps, headaches, backaches and breast tenderness. Exercising, getting enough sleep, and avoiding salt, caffeine, and alcohol can also help. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Premenstrual Syndrome +What is (are) Dizziness and Vertigo ?,"When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo. A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down. Dizziness usually gets better by itself or is easily treated. However, it can be a symptom of other disorders. Medicines may cause dizziness, or problems with your ear. Motion sickness can also make you dizzy. There are many other causes. If you are dizzy often, you should see your health care provider to find the cause.",MPlusHealthTopics,Dizziness and Vertigo +What is (are) Oxygen Therapy ?,"Oxygen therapy is a treatment that provides you with extra oxygen. Oxygen is a gas that your body needs to function. Normally, your lungs absorb oxygen from the air you breathe. But some conditions can prevent you from getting enough oxygen. You may need oxygen if you have - COPD (chronic obstructive pulmonary disease) - Pneumonia - A severe asthma attack - Late-stage heart failure - Cystic fibrosis - Sleep apnea The oxygen comes through nasal prongs, a mask, or a breathing tube. If you have a chronic problem, you may have a portable oxygen tank or a machine in your home. A different kind of oxygen therapy is called hyperbaric oxygen therapy. It uses oxygen at high pressure to treat wounds and serious infections. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Oxygen Therapy +What is (are) Huntington's Disease ?,"Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Huntington's Disease +Do you have information about Premature Babies,"Summary : Almost 1 of every 10 infants born in the United States are premature, or preemies. A premature birth is when a baby is born before 37 completed weeks of pregnancy. A full-term pregnancy is 40 weeks. Important growth and development happen throughout pregnancy - especially in the final months and weeks. Because they are born too early, preemies weigh much less than full-term babies. They may have health problems because their organs did not have enough time to develop. Problems that a baby born too early may have include - Breathing problems - Feeding difficulties - Cerebral palsy - Developmental delay - Vision problems - Hearing problems Preemies need special medical care in a neonatal intensive care unit, or NICU. They stay there until their organ systems can work on their own. Centers for Disease Control and Prevention",MPlusHealthTopics,Premature Babies +What is (are) Mouth Disorders ?,"Your mouth is one of the most important parts of your body. Any problem that affects your mouth can make it hard to eat, drink or even smile. Some common mouth problems include - Cold sores - painful sores on the lips and around the mouth, caused by a virus - Canker sores - painful sores in the mouth, caused by bacteria or viruses - Thrush - a yeast infection that causes white patches in your mouth - Leukoplakia - white patches of excess cell growth on the cheeks, gums or tongue, common in smokers - Dry mouth - a lack of enough saliva, caused by some medicines and certain diseases - Gum or tooth problems - Bad breath Treatment for mouth disorders varies, depending on the problem. Keeping a clean mouth by brushing and flossing often is important.",MPlusHealthTopics,Mouth Disorders +What is (are) Vision Impairment and Blindness ?,"If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. Activities like reading, shopping, cooking, writing, and watching TV may be hard to do. The leading causes of low vision and blindness in the United States are age-related eye diseases: macular degeneration, cataract and glaucoma. Other eye disorders, eye injuries and birth defects can also cause vision loss. Whatever the cause, lost vision cannot be restored. It can, however, be managed. A loss of vision means that you may have to reorganize your life and learn new ways of doing things. If you have some vision, visual aids such as special glasses and large print books can make life easier. There are also devices to help those with no vision, like text-reading software and braille books. The sooner vision loss or eye disease is found and treated, the greater your chances of keeping your remaining vision. You should have regular comprehensive eye exams by an eye care professional. NIH: National Eye Institute",MPlusHealthTopics,Vision Impairment and Blindness +What is (are) Tremor ?,"Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as - Parkinson's disease - Dystonia - Multiple sclerosis - Stroke - Traumatic brain injury - Alcohol abuse and withdrawal - Certain medicines Some forms are inherited and run in families. Others have no known cause. There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Tremor +What is (are) Nose Injuries and Disorders ?,"Your nose is important to your health. It filters the air you breathe, removing dust, germs, and irritants. It warms and moistens the air to keep your lungs and tubes that lead to them from drying out. Your nose also contains the nerve cells that help your sense of smell. When there is a problem with your nose, your whole body can suffer. For example, the stuffy nose of the common cold can make it hard for you to breathe, sleep, or get comfortable. Many problems besides the common cold can affect the nose. They include - Deviated septum - a shifting of the wall that divides the nasal cavity into halves - Nasal polyps - soft growths that develop on the lining of your nose or sinuses - Nosebleeds - Rhinitis - inflammation of the nose and sinuses sometimes caused by allergies. The main symptom is a runny nose. - Nasal fractures, also known as a broken nose",MPlusHealthTopics,Nose Injuries and Disorders +What is (are) Diphtheria ?,"Diphtheria is a serious bacterial infection. You can catch it from a person who has the infection and coughs or sneezes. You can also get infected by coming in contact with an object, such as a toy, that has bacteria on it. Diphtheria usually affects the nose and throat. Symptoms include - Sore throat - Swollen glands in the neck - Fever - Weakness Your doctor will diagnose it based on your signs and symptoms and a lab test. Getting treatment for diphtheria quickly is important. If your doctor suspects that you have it, you'll start treatment before the lab tests come back. Treatment is with antibiotics. The diphtheria, pertussis, and tetanus vaccine can prevent diphtheria, but its protection does not last forever. Children need another dose, or booster, at about age 12. Then, as adults, they should get a booster every 10 years. Diphtheria is very rare in the United States because of the vaccine. Centers for Disease Control and Prevention",MPlusHealthTopics,Diphtheria +What is (are) Esophageal Cancer ?,"The esophagus is a hollow tube that carries food and liquids from your throat to your stomach. Early esophageal cancer usually does not cause symptoms. Later, you may have symptoms such as - Painful or difficult swallowing - Weight loss - A hoarse voice or cough that doesn't go away You're at greater risk for getting esophageal cancer if you smoke, drink heavily, or have acid reflux. Your risk also goes up as you age Your doctor uses imaging tests and a biopsy to diagnose esophageal cancer. Treatments include surgery, radiation, and chemotherapy. You might also need nutritional support, since the cancer or treatment may make it hard to swallow. NIH: National Cancer Institute",MPlusHealthTopics,Esophageal Cancer +Do you have information about HIV/AIDS Medicines,"Summary : In the early 1980s, when the HIV/AIDS epidemic began, patients rarely lived longer than a few years. But today, there are many effective medicines to fight the infection, and people with HIV have longer, healthier lives. There are five major types of medicines: - Reverse transcriptase (RT) inhibitors - interfere with a critical step during the HIV life cycle and keep the virus from making copies of itself - Protease inhibitors - interfere with a protein that HIV uses to make infectious viral particles - Fusion inhibitors - block the virus from entering the body's cells - Integrase inhibitors - block an enzyme HIV needs to make copies of itself - Multidrug combinations - combine two or more different types of drugs into one These medicines help people with HIV, but they are not perfect. They do not cure HIV/AIDS. People with HIV infection still have the virus in their bodies. They can still spread HIV to others through unprotected sex and needle sharing, even when they are taking their medicines. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,HIV/AIDS Medicines +Do you have information about Rural Health Concerns,"Summary : People in rural areas face some different health issues than people who live in towns and cities. Getting health care can be a problem when you live in a remote area. You might not be able to get to a hospital quickly in an emergency. You also might not want to travel long distances to get routine checkups and screenings. Rural areas often have fewer doctors and dentists, and certain specialists might not be available at all. Because it can be hard to get care, health problems in rural residents may be more serious by the time they are diagnosed. People in rural areas of the United States have higher rates of chronic disease than people in urban areas. They also have higher rates of certain types of cancer, from exposure to chemicals used in farming.",MPlusHealthTopics,Rural Health Concerns +What is (are) Skin Conditions ?,"Your skin is your body's largest organ. It covers and protects your body. Your skin - Holds body fluids in, preventing dehydration - Keeps harmful microbes out, preventing infections - Helps you feel things like heat, cold, and pain - Keeps your body temperature even - Makes vitamin D when the sun shines on it Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Skin Conditions +What is (are) Penis Disorders ?,"Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include - Erectile dysfunction - inability to get or keep an erection - Priapism - a painful erection that does not go away - Peyronie's disease - bending of the penis during an erection due to a hard lump called a plaque - Balanitis - inflammation of the skin covering the head of the penis, most often in men and boys who have not been circumcised - Penile cancer - a rare form of cancer, highly curable when caught early",MPlusHealthTopics,Penis Disorders +What is (are) Mumps ?,"Mumps is an illness caused by the mumps virus. It starts with - Fever - Headache - Muscle aches - Tiredness - Loss of appetite After that, the salivary glands under the ears or jaw become swollen and tender. The swelling can be on one or both sides of the face. Symptoms last 7 to 10 days. Serious complications are rare. You can catch mumps by being with another person who has it. There is no treatment for mumps, but the measles-mumps-rubella (MMR) vaccine can prevent it. Before the routine vaccination program in the United States, mumps was a common illness in infants, children and young adults. Now it is a rare disease in the U.S. Centers for Disease Control and Prevention",MPlusHealthTopics,Mumps +What is (are) Syphilis ?,"Syphilis is a sexually transmitted disease caused by bacteria. It infects the genital area, lips, mouth, or anus of both men and women. You usually get syphilis from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy. The early stage of syphilis usually causes a single, small, painless sore. Sometimes it causes swelling in nearby lymph nodes. If you do not treat it, syphilis usually causes a non-itchy skin rash, often on your hands and feet. Many people do not notice symptoms for years. Symptoms can go away and come back. The sores caused by syphilis make it easier to get or give someone HIV during sex. If you are pregnant, syphilis can cause birth defects, or you could lose your baby. In rare cases, syphilis causes serious health problems and even death. Syphilis is easy to cure with antibiotics if you catch it early. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading syphilis. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Syphilis +Do you have information about Club Drugs,"Summary : Club drugs are group of psychoactive drugs. They act on the central nervous system and can cause changes in mood, awareness, and how you act. These drugs are often abused by young adults at all-night dance parties, dance clubs, and bars. They include - Methylenedioxymethamphetamine (MDMA), also known as Ecstasy XTC, X, E, Adam, Molly, Hug Beans, and Love Drug - Gamma-hydroxybutyrate (GHB), also known as G, Liquid Ecstasy, and Soap - Ketamine, also known as Special K, K, Vitamin K, and Jet - Rohypnol, also known as Roofies - Methamphetamine, also known as Speed, Ice, Chalk, Meth, Crystal, Crank, and Glass - Lysergic Acid Diethylamide (LSD), also known as Acid, Blotter, and Dots Some of these drugs are approved for certain medical uses. Other uses of these drugs are abuse. Club drugs are also sometimes used as ""date rape"" drugs, to make someone unable to say no to or fight back against sexual assault. Abusing these drugs can cause serious health problems and sometimes death. They are even more dangerous if you use them with alcohol. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Club Drugs +Do you have information about Newborn Screening,"Summary : Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include - Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions. - A hearing test that measures the baby's response to sound - A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect. These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent. If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Newborn Screening +What is (are) Emphysema ?,"Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you smoke, quitting can help prevent you from getting the disease. If you already have emphysema, not smoking might keep it from getting worse. Treatment is based on whether your symptoms are mild, moderate or severe. Treatments include inhalers, oxygen, medications and sometimes surgery to relieve symptoms and prevent complications.",MPlusHealthTopics,Emphysema +Do you have information about Surgery,"Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life. Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery. After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery. Agency for Healthcare Research and Quality",MPlusHealthTopics,Surgery +What is (are) Ulcerative Colitis ?,"Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include - Anemia - Severe tiredness - Weight loss - Loss of appetite - Bleeding from the rectum - Sores on the skin - Joint pain - Growth failure in children About half of people with UC have mild symptoms. Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Ulcerative Colitis +What is (are) Gallstones ?,"Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Gallstones +What is (are) Childbirth Problems ?,"While childbirth usually goes well, complications can happen. They can cause a risk to the mother, baby, or both. Possible complications include - Preterm (premature) labor, when labor starts before 37 completed weeks of pregnancy - Problems with the umbilical cord - Problems with the position of the baby, such as breech, in which the baby is going to come out feet first - Birth injuries For some of these problems, the baby may need to be delivered surgically by a Cesarean section.",MPlusHealthTopics,Childbirth Problems +Do you have information about Palliative Care,"Summary : Palliative care is treatment of the discomfort, symptoms, and stress of serious illness. It provides relief from distressing symptoms including - Pain - Shortness of breath - Fatigue - Constipation - Nausea - Loss of appetite - Problems with sleep It can also help you deal with the side effects of the medical treatments you're receiving. Hospice care, care at the end of life, always includes palliative care. But you may receive palliative care at any stage of an illness. The goal is to make you comfortable and improve your quality of life. NIH: National Institute of Nursing Research",MPlusHealthTopics,Palliative Care +Do you have information about Financial Assistance,"Summary : Health care can be costly. If you have health insurance, it usually pays at least part of your medical costs. If you don't have insurance or need help with costs that aren't covered, financial assistance might be available. Certain government programs and nonprofit organizations can help. You can also discuss concerns about paying your medical bills with your health care provider, social worker or the business office of your clinic or hospital.",MPlusHealthTopics,Financial Assistance +What is (are) Amyloidosis ?,"Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: - Primary - with no known cause - Secondary - caused by another disease, including some types of cancer - Familial - passed down through genes Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.",MPlusHealthTopics,Amyloidosis +Do you have information about Tubal Ligation,"Summary : Tubal ligation (getting your ""tubes tied"") is a type of surgery. It prevents a woman from getting pregnant. It is a permanent form of birth control. The surgery closes the fallopian tubes, which connect the ovaries to the uterus. It usually takes about 30 minutes. Almost all women go home the same day. Women can return to most normal activities within a few days. Tubal ligation can sometimes be reversed, but not always.",MPlusHealthTopics,Tubal Ligation +Do you have information about Medicines and Children,"Summary : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a ""Pediatric"" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. Aside from drugs for fever or pain, most over-the-counter products haven't actually been studied in children for effectiveness, safety, or dosing. When you give medicine to your child, be sure you're giving the right medicine and the right amount. Read and follow the label directions. Use the correct dosing device. If the label says two teaspoons and you're using a dosing cup with ounces only, don't guess. Get the proper measuring device. Don't substitute another item, such as a kitchen spoon. Talk to your doctor, pharmacist, or other health care provider before giving two medicines at the same time. That way, you can avoid a possible overdose or an unwanted interaction. Follow age and weight limit recommendations. If the label says don't give to children under a certain age or weight, don't do it. Food and Drug Administration",MPlusHealthTopics,Medicines and Children +What is (are) Fungal Infections ?,"If you have ever had athlete's foot or a yeast infection, you can blame a fungus. A fungus is a primitive organism. Mushrooms, mold and mildew are examples. Fungi live in air, in soil, on plants and in water. Some live in the human body. Only about half of all types of fungi are harmful. Some fungi reproduce through tiny spores in the air. You can inhale the spores or they can land on you. As a result, fungal infections often start in the lungs or on the skin. You are more likely to get a fungal infection if you have a weakened immune system or take antibiotics. Fungi can be difficult to kill. For skin and nail infections, you can apply medicine directly to the infected area. Oral antifungal medicines are also available for serious infections. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Fungal Infections +What is (are) Rashes ?,"A rash is an area of irritated or swollen skin. Many rashes are itchy, red, painful, and irritated. Some rashes can also lead to blisters or patches of raw skin. Rashes are a symptom of many different medical problems. Other causes include irritating substances and allergies. Certain genes can make people more likely to get rashes. Contact dermatitis is a common type of rash. It causes redness, itching, and sometimes small bumps. You get the rash where you have touched an irritant, such as a chemical, or something you are allergic to, like poison ivy. Some rashes develop right away. Others form over several days. Although most rashes clear up fairly quickly, others are long-lasting and need long-term treatment. Because rashes can be caused by many different things, it's important to figure out what kind you have before you treat it. If it is a bad rash, if it does not go away, or if you have other symptoms, you should see your health care provider. Treatments may include moisturizers, lotions, baths, cortisone creams that relieve swelling, and antihistamines, which relieve itching.",MPlusHealthTopics,Rashes +What is (are) Endocarditis ?,"Endocarditis, also called infective endocarditis (IE), is an inflammation of the inner lining of the heart. The most common type, bacterial endocarditis, occurs when germs enter your heart. These germs come through your bloodstream from another part of your body, often your mouth. Bacterial endocarditis can damage your heart valves. If untreated, it can be life-threatening. It is rare in healthy hearts. Risk factors include having - An abnormal or damaged heart valve - An artificial heart valve - Congenital heart defects The signs and symptoms of IE can vary from person to person. They also can vary over time in the same person. Symptoms you might notice include fever, shortness of breath, fluid buildup in your arms or legs, tiny red spots on your skin, and weight loss. Your doctor will diagnose IE based on your risk factors, medical history, signs and symptoms, and lab and heart tests. Early treatment can help you avoid complications. Treatment usually involves high-dose antibiotics. If your heart valve is damaged, you may need surgery. If you're at risk for IE, brush and floss your teeth regularly, and have regular dental checkups. Germs from a gum infection can enter your bloodstream. If you are at high risk, your doctor might prescribe antibiotics before dental work and certain types of surgery. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Endocarditis +Do you have information about Ultrasound,"Summary : Ultrasound is a type of imaging. It uses high-frequency sound waves to look at organs and structures inside the body. Health care professionals use it to view the heart, blood vessels, kidneys, liver, and other organs. During pregnancy, doctors use ultrasound to view the fetus. Unlike x-rays, ultrasound does not expose you to radiation. During an ultrasound test, you lie on a table. A special technician or doctor moves a device called a transducer over part of your body. The transducer sends out sound waves, which bounce off the tissues inside your body. The transducer also captures the waves that bounce back. The ultrasound machine creates images from the sound waves.",MPlusHealthTopics,Ultrasound +What is (are) Bedwetting ?,"Many children wet the bed until they are 5 or even older. A child's bladder might be too small. Or the amount of urine produced overnight can be more than the bladder can hold. Some children sleep too deeply or take longer to learn bladder control. Stress can also be a factor. Children should not be punished for wetting the bed. They don't do it on purpose, and most outgrow it. Call the doctor if your child is 7 years old or older and wets the bed more than two or three times in a week. The doctor will look for and treat any other heath problems that could cause the bedwetting. Bedwetting alarms, bladder training, and medicines might help with the bedwetting. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Bedwetting +What is (are) Hip Injuries and Disorders ?,"Your hip is the joint where your thigh bone meets your pelvis bone. Hips are called ball-and-socket joints because the ball-like top of your thigh bone moves within a cup-like space in your pelvis. Your hips are very stable. When they are healthy, it takes great force to hurt them. However, playing sports, running, overuse or falling can all sometimes lead to hip injuries. These include - Strains - Bursitis - Dislocations - Fractures Certain diseases also lead to hip injuries or problems. Osteoarthritis can cause pain and limited motion. Osteoporosis of the hip causes weak bones that break easily. Both of these are common in older people. Treatment for hip disorders may include rest, medicines, physical therapy, or surgery, including hip replacement.",MPlusHealthTopics,Hip Injuries and Disorders +Do you have information about Nutrition,"Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals, and water. Healthy eating is not hard. The key is to - Eat a variety of foods, including vegetables, fruits, and whole-grain products - Eat lean meats, poultry, fish, beans, and low-fat dairy products - Drink lots of water - Limit salt, sugar, alcohol, saturated fat, and trans fat in your diet Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines, and shortenings. Centers for Disease Control and Prevention",MPlusHealthTopics,Nutrition +What is (are) Hodgkin Disease ?,"Hodgkin disease is a type of lymphoma. Lymphoma is a cancer of a part of the immune system called the lymph system. The first sign of Hodgkin disease is often an enlarged lymph node. The disease can spread to nearby lymph nodes. Later it may spread to the lungs, liver, or bone marrow. The exact cause is unknown. Hodgkin disease is rare. Symptoms include - Painless swelling of the lymph nodes in the neck, armpits, or groin - Fever and chills - Night sweats - Weight loss - Loss of appetite - Itchy skin To diagnose Hodgkin disease, doctors use a physical exam and history, blood tests, and a biopsy. Treatment depends on how far the disease has spread. It often includes radiation therapy or chemotherapy. The earlier the disease is diagnosed, the more effective the treatment. In most cases, Hodgkin disease can be cured. NIH: National Cancer Institute",MPlusHealthTopics,Hodgkin Disease +What is (are) Pemphigus ?,"Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus. Pemphigoid is also an autoimmune skin disease. It leads to deep blisters that do not break easily. Pemphigoid is most common in older adults and may be fatal for older, sick patients. Doctors diagnose pemphigus with a physical exam, a biopsy, and blood tests. The treatment of pemphigus and pemphigoid is the same: one or more medicines to control symptoms. These may include - Steroids, which reduce inflammation - Drugs that suppress the immune system response - Antibiotics to treat associated infections NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Pemphigus +What is (are) Endometriosis ?,"Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. Endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. It can grow on the ovaries, behind the uterus or on the bowels or bladder. Rarely, it grows in other parts of the body. This ""misplaced"" tissue can cause pain, infertility, and very heavy periods. The pain is usually in the abdomen, lower back or pelvic areas. Some women have no symptoms at all. Having trouble getting pregnant may be the first sign. The cause of endometriosis is not known. Pain medicines and hormones often help. Severe cases may need surgery. There are also treatments to improve fertility in women with endometriosis.",MPlusHealthTopics,Endometriosis +What is (are) Fatigue ?,"Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it. Fatigue itself is not a disease. Medical problems, treatments, and personal habits can add to fatigue. These include - Taking certain medicines, such as antidepressants, antihistamines, and medicines for nausea and pain - Having medical treatments, like chemotherapy and radiation - Recovering from major surgery - Anxiety, stress, or depression - Staying up too late - Drinking too much alcohol or too many caffeinated drinks - Pregnancy One disorder that causes extreme fatigue is chronic fatigue syndrome (CFS). This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. NIH: National Institute on Aging",MPlusHealthTopics,Fatigue +What is (are) Speech and Communication Disorders ?,"Many disorders can affect our ability to speak and communicate. They range from saying sounds incorrectly to being completely unable to speak or understand speech. Causes include - Hearing disorders and deafness - Voice problems, such as dysphonia or those caused by cleft lip or palate - Speech problems like stuttering - Developmental disabilities - Learning disorders - Autism spectrum disorder - Brain injury - Stroke Some speech and communication problems may be genetic. Often, no one knows the causes. By first grade, about 5 percent of children have noticeable speech disorders. Speech and language therapy can help. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Speech and Communication Disorders +What is (are) Frostbite ?,"Frostbite is an injury to the body that is caused by freezing. It most often affects the nose, ears, cheeks, chin, fingers, or toes. Frostbite can permanently damage the body, and severe cases can lead to amputation. Signs of frostbite include - A white or grayish-yellow skin area - Skin that feels unusually firm or waxy - Numbness If you have symptoms of frostbite, seek medical care. But if immediate medical care isn't available, here are steps to take: - Get into a warm room as soon as possible. - Unless absolutely necessary, do not walk on frostbitten feet or toes. Walking increases the damage. - Put the affected area in warm - not hot - water. - You can also warm the affected area using body heat. For example, use your armpit to warm frostbitten fingers. - Don't rub the frostbitten area with snow or massage it at all. This can cause more damage. - Don't use a heating pad, heat lamp, or the heat of a stove, fireplace, or radiator for warming. Since frostbite makes an area numb, you could burn it. Centers for Disease Control and Prevention",MPlusHealthTopics,Frostbite +Do you have information about Heroin,"Summary : Heroin is a white or brown powder or a black, sticky goo. It's made from morphine, a natural substance in the seedpod of the Asian poppy plant. It can be mixed with water and injected with a needle. Heroin can also be smoked or snorted up the nose. All of these ways of taking heroin send it to the brain very quickly. This makes it very addictive. Major health problems from heroin include miscarriages, heart infections, and death from overdose. People who inject the drug also risk getting infectious diseases, including HIV/AIDS and hepatitis. Regular use of heroin can lead to tolerance. This means users need more and more drug to have the same effect. At higher doses over time, the body becomes dependent on heroin. If dependent users stop heroin, they have withdrawal symptoms. These symptoms include restlessness, muscle and bone pain, diarrhea and vomiting, and cold flashes with goose bumps. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Heroin +Do you have information about International Health,"Summary : The spread of a disease doesn't stop at a country's borders. With more people traveling to other countries and living in crowded cities, it's easier for germs to spread. Infectious diseases that start in one part of the world can quickly reach another. Drug resistance is on the rise, making it harder to treat certain diseases. Natural and man-made disasters create refugee populations with immediate and long-term health problems. Some of the major diseases currently affecting countries around the globe include HIV/AIDS, malaria, pandemic/avian flu, and tuberculosis. Many countries and health organizations are working together and sharing information on these and other health issues.",MPlusHealthTopics,International Health +What is (are) Heart Valve Diseases ?,"Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have - Regurgitation - when blood leaks back through the valve in the wrong direction - Mitral valve prolapse - when one of the valves, the mitral valve, has ""floppy"" flaps and doesn't close tightly. It's one of the most common heart valve conditions. Sometimes it causes regurgitation. - Stenosis - when the valve doesn't open enough and blocks blood flow Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage. The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. Heart tests can show if you have a heart valve disease. Some valve problems are minor and do not need treatment. Others might require medicine, medical procedures, or surgery to repair or replace the valve. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Valve Diseases +What is (are) Diabetic Nerve Problems ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage the covering on your nerves or the blood vessels that bring oxygen to your nerves. Damaged nerves may stop sending messages, or may send messages slowly or at the wrong times. This damage is called diabetic neuropathy. Over half of people with diabetes get it. Symptoms may include - Numbness in your hands, legs, or feet - Shooting pains, burning, or tingling - Nausea, vomiting, constipation, or diarrhea - Problems with sexual function - Urinary problems - Dizziness when you change positions quickly Your doctor will diagnose diabetic neuropathy with a physical exam and nerve tests. Controlling your blood sugar can help prevent nerve problems, or keep them from getting worse. Treatment may include pain relief and other medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Nerve Problems +Do you have information about Blood Count Tests,"Summary : Your blood contains red blood cells (RBC), white blood cells (WBC), and platelets. Blood count tests measure the number and types of cells in your blood. This helps doctors check on your overall health. The tests can also help to diagnose diseases and conditions such as anemia, infections, clotting problems, blood cancers, and immune system disorders. Specific types include tests for - RBC - the numbers, size, and types of RBC in the blood - WBC - the numbers and types of WBC in the blood - Platelets - the numbers and size of the platelets - Hemoglobin - an iron-rich protein in red blood cells that carries oxygen - Hematocrit - how much space red blood cells take up in your blood - Reticulocyte count - how many young red blood cells are in your blood - Mean corpuscular volume (MCV) - the average size of your red blood cells The complete blood count (CBC) includes most or all of these. The CBC is one of the most common blood tests. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Blood Count Tests +What is (are) Lung Cancer ?,"Lung cancer is one of the most common cancers in the world. It is a leading cause of cancer death in men and women in the United States. Cigarette smoking causes most lung cancers. The more cigarettes you smoke per day and the earlier you started smoking, the greater your risk of lung cancer. High levels of pollution, radiation and asbestos exposure may also increase risk. Common symptoms of lung cancer include - A cough that doesn't go away and gets worse over time - Constant chest pain - Coughing up blood - Shortness of breath, wheezing, or hoarseness - Repeated problems with pneumonia or bronchitis - Swelling of the neck and face - Loss of appetite or weight loss - Fatigue Doctors diagnose lung cancer using a physical exam, imaging, and lab tests. Treatment depends on the type, stage, and how advanced it is. Treatments include surgery, chemotherapy, radiation therapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Lung Cancer +What is (are) Von Hippel-Lindau Disease ?,"Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tumors. They may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Von Hippel-Lindau Disease +Do you have information about Organ Donation,"Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone and bone marrow - Cornea Most organ and tissue donations occur after the donor has died. But some organs and tissues can be donated while the donor is alive. People of all ages and background can be organ donors. If you are under age 18, your parent or guardian must give you permission to become a donor. If you are 18 or older you can show you want to be a donor by signing a donor card. You should also let your family know your wishes. Health Resources and Services Administration",MPlusHealthTopics,Organ Donation +What is (are) Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. Symptoms of AAT deficiency include - Shortness of breath and wheezing - Repeated lung infections - Tiredness - Rapid heartbeat upon standing - Vision problems - Weight loss Some people have no symptoms and do not develop complications. Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Alpha-1 Antitrypsin Deficiency +What is (are) Pneumonia ?,"Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you - Have a high fever - Have shaking chills - Have a cough with phlegm that doesn't improve or gets worse - Develop shortness of breath with normal daily activities - Have chest pain when you breathe or cough - Feel suddenly worse after a cold or the flu Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pneumonia +What is (are) Hepatitis B ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis B, is caused by the hepatitis B virus (HBV). Hepatitis B spreads by contact with an infected person's blood, semen, or other body fluid. An infected woman can give hepatitis B to her baby at birth. If you get HBV, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. Some people have no symptoms at all. A blood test can tell if you have it. HBV usually gets better on its own after a few months. If it does not get better, it is called chronic HBV, which lasts a lifetime. Chronic HBV can lead to scarring of the liver, liver failure, or liver cancer. There is a vaccine for HBV. It requires three shots. All babies should get the vaccine, but older children and adults can get it too. If you travel to countries where Hepatitis B is common, you should get the vaccine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hepatitis B +Do you have information about Noise,"Summary : Noise is all around you, from televisions and radios to lawn mowers and washing machines. Normally, you hear these sounds at safe levels that don't affect hearing. But sounds that are too loud or loud sounds over a long time are harmful. They can damage sensitive structures of the inner ear and cause noise-induced hearing loss. More than 30 million Americans are exposed to hazardous sound levels on a regular basis. Hazardous sound levels are louder than 80 decibels. That's not as loud as traffic on a busy street. Listening to loud music, especially on headphones, is a common cause of noise-induced hearing loss. You can protect your hearing by - Keeping the volume down when listening to music - Wearing earplugs when using loud equipment NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Noise +What is (are) Hiatal Hernia ?,"A hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. The leaking of acid from the stomach into the esophagus is called gastroesophageal reflux disease (GERD). GERD may cause symptoms such as - Heartburn - Problems swallowing - A dry cough - Bad breath Hiatal hernias are common, especially in people over age 50. If you have symptoms, eating small meals, avoiding certain foods, not smoking or drinking alcohol, and losing weight may help. Your doctor may recommend antacids or other medicines. If these don't help, you may need surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hiatal Hernia +What is (are) Sprains and Strains ?,"A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens. A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle. At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Sprains and Strains +Do you have information about Bowel Movement,"Summary : A bowel movement is the last stop in the movement of food through your digestive tract. Your stool passes out of your body through the rectum and anus. Another name for stool is feces. It is made of what is left after your digestive system (stomach, small intestine, and colon) absorbs nutrients and fluids from what you eat and drink. Sometimes a bowel movement isn't normal. Diarrhea happens when stool passes through the large intestine too quickly. Constipation occurs when stool passes through the large intestine too slowly. Bowel incontinence is a problem controlling your bowel movements. Other abnormalities with bowel movements may be a sign of a digestive problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Bowel Movement +What is (are) Coma ?,"A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Coma +What is (are) Osteoarthritis ?,"Osteoarthritis is the most common form of arthritis. It causes pain, swelling, and reduced motion in your joints. It can occur in any joint, but usually it affects your hands, knees, hips or spine. Osteoarthritis breaks down the cartilage in your joints. Cartilage is the slippery tissue that covers the ends of bones in a joint. Healthy cartilage absorbs the shock of movement. When you lose cartilage, your bones rub together. Over time, this rubbing can permanently damage the joint. Risk factors for osteoarthritis include - Being overweight - Getting older - Injuring a joint No single test can diagnose osteoarthritis. Most doctors use several methods, including medical history, a physical exam, x-rays, or lab tests. Treatments include exercise, medicines, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Osteoarthritis +What is (are) Choking ?,"Food or small objects can cause choking if they get caught in your throat and block your airway. This keeps oxygen from getting to your lungs and brain. If your brain goes without oxygen for more than four minutes, you could have brain damage or die. Young children are at an especially high risk of choking. They can choke on foods like hot dogs, nuts and grapes, and on small objects like toy pieces and coins. Keep hazards out of their reach and supervise them when they eat. When someone is choking, quick action can be lifesaving. Learn how to do back blows, the Heimlich maneuver (abdominal thrusts), and CPR.",MPlusHealthTopics,Choking +What is (are) Dwarfism ?,"A dwarf is a person of short stature - under 4' 10"" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.",MPlusHealthTopics,Dwarfism +What is (are) Post-Traumatic Stress Disorder ?,"Post-traumatic stress disorder (PTSD) is a real illness. You can get PTSD after living through or seeing a traumatic event, such as war, a hurricane, sexual assault, physical abuse, or a bad accident. PTSD makes you feel stressed and afraid after the danger is over. It affects your life and the people around you. PTSD can cause problems like - Flashbacks, or feeling like the event is happening again - Trouble sleeping or nightmares - Feeling alone - Angry outbursts - Feeling worried, guilty, or sad PTSD starts at different times for different people. Signs of PTSD may start soon after a frightening event and then continue. Other people develop new or more severe signs months or even years later. PTSD can happen to anyone, even children. Treatment may include talk therapy, medicines, or both. Treatment might take 6 to 12 weeks. For some people, it takes longer. NIH: National Institute of Mental Health",MPlusHealthTopics,Post-Traumatic Stress Disorder +Do you have information about Sodium,"Summary : Table salt is made up of the elements sodium and chlorine - the technical name for salt is sodium chloride. Your body needs some sodium to work properly. It helps with the function of nerves and muscles. It also helps to keep the right balance of fluids in your body. Your kidneys control how much sodium is in your body. If you have too much and your kidneys can't get rid it, sodium builds up in your blood. This can lead to high blood pressure. High blood pressure can lead to other health problems. Most people in the U.S. get more sodium in their diets than they need. A key to healthy eating is choosing foods low in salt and sodium. Doctors recommend you eat less than 2.4 grams per day. That equals about 1 teaspoon of table salt a day. Reading food labels can help you see how much sodium is in prepared foods. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Sodium +What is (are) Lactose Intolerance ?,"Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have - Gas - Diarrhea - Swelling in your stomach Your doctor may do a blood, breath or stool test to find out if your problems are due to lactose intolerance. Lactose intolerance is not serious. Eating less food with lactose, or using pills or drops to help you digest lactose usually helps. You may need to take a calcium supplement if you don't get enough of it from your diet, since milk and foods made with milk are the most common source of calcium for most people. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Lactose Intolerance +What is (are) Vitiligo ?,"Vitiligo causes white patches on your skin. It can also affect your eyes, mouth, and nose. It occurs when the cells that give your skin its color are destroyed. No one knows what destroys them. It is more common in people with autoimmune diseases, and it might run in families. It usually starts before age 40. The white patches are more common where your skin is exposed to the sun. In some cases, the patches spread. Vitiligo can cause your hair to gray early. If you have dark skin, you may lose color inside your mouth. Using sunscreen will help protect your skin, and cosmetics can cover up the patches. Treatments for vitiligo include medicines, light therapy, and surgery. Not every treatment is right for everyone. Many have side effects. Some take a long time. Some do not always work. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Vitiligo +Do you have information about Methamphetamine,"Summary : Methamphetamine - meth for short - is a very addictive stimulant drug. It is a powder that can be made into a pill or a shiny rock (called a crystal). The powder can be eaten or snorted up the nose. It can also be mixed with liquid and injected into your body with a needle. Crystal meth is smoked in a small glass pipe. Meth at first causes a rush of good feelings, but then users feel edgy, overly excited, angry, or afraid. Meth use can quickly lead to addiction. It causes medical problems including - Making your body temperature so high that you pass out - Severe itching - ""Meth mouth"" - broken teeth and dry mouth - Thinking and emotional problems NIH: National Institute on Drug Abuse",MPlusHealthTopics,Methamphetamine +Do you have information about Native American Health,"Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Americans.",MPlusHealthTopics,Native American Health +What is (are) Prescription Drug Abuse ?,"If you take a medicine in a way that is different from what the doctor prescribed, it is called prescription drug abuse. It could be - Taking a medicine that was prescribed for someone else - Taking a larger dose than you are supposed to - Taking the medicine in a different way than you are supposed to. This might be crushing tablets and then snorting or injecting them. - Using the medicine for another purpose, such as getting high Abusing some prescription drugs can lead to addiction. These include narcotic painkillers, sedatives, tranquilizers, and stimulants. Every medicine has some risk of side effects. Doctors take this into account when prescribing medicines. People who abuse these drugs may not understand the risks. The medicines may not be safe for them, especially at higher doses or when taken with other medicines. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Prescription Drug Abuse +Do you have information about Cold and Cough Medicines,"Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and getting plenty of rest, you may want to take medicines. There are lots of different cold and cough medicines, and they do different things. - Nasal decongestants - unclog a stuffy nose - Cough suppressants - quiet a cough - Expectorants - loosen mucus so you can cough it up - Antihistamines - stop runny noses and sneezing - Pain relievers - ease fever, headaches, and minor aches and pains Here are some other things to keep in mind about cold and cough medicines. Read labels, because many cold and cough medicines contain the same active ingredients. Taking too much of certain pain relievers can lead to serious injury. Do not give cough medicines to children under four, and don't give aspirin to children. Finally, antibiotics won't help a cold. Food and Drug Administration",MPlusHealthTopics,Cold and Cough Medicines +What is (are) Canker Sores ?,"Canker sores are small, round sores in your mouth. They can be on the inside of your cheek, under your tongue, or in the back of your throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagious. They may happen if you have a viral infection. They may also be triggered by stress, food allergies, lack of vitamins and minerals, hormonal changes or menstrual periods. In some cases the cause is unknown. In most cases, the sores go away by themselves. Some ointments, creams or rinses may help with the pain. Avoiding hot, spicy food while you have a canker sore also helps.",MPlusHealthTopics,Canker Sores +What is (are) Measles ?,"Measles is an infectious disease caused by a virus. It spreads easily from person to person. It causes a blotchy red rash. The rash often starts on the head and moves down the body. Other symptoms include - Fever - Cough - Runny nose - Conjunctivitis (pink eye) - Feeling achy and run down - Tiny white spots inside the mouth Sometimes measles can lead to serious problems. There is no treatment for measles, but the measles-mumps-rubella (MMR) vaccine can prevent it. ""German measles"", also known as rubella, is a completely different illness. Centers for Disease Control and Prevention",MPlusHealthTopics,Measles +What is (are) Stillbirth ?,"If a woman loses a pregnancy after she's past her 20th week, it's called a stillbirth. Stillbirths are due to natural causes. They can happen before delivery or during delivery. Causes include: - Problems with the placenta, the organ that transports oxygen and nutrients to the fetus - Genetic problems with the fetus - Fetal infections - Other physical problems in the fetus In at least half of all cases, it is not possible to tell why the baby died. If stillbirth happens before delivery, your health care provider may induce labor or perform a Cesarean section to deliver the fetus. In some cases, you can wait until you go into labor yourself. This usually happens within two weeks of stillbirth. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a stillbirth go on to have healthy babies. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Stillbirth +Do you have information about Cocaine,"Summary : Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe. Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. But then your mood can change. You can become angry, nervous, and afraid that someone's out to get you. You might do things that make no sense. After the ""high"" of the cocaine wears off, you can ""crash"" and feel tired and sad for days. You also get a strong craving to take the drug again to try to feel better. No matter how cocaine is taken, it is dangerous. Some of the most common serious problems include heart attack and stroke. You are also at risk for HIV/AIDS and hepatitis, from sharing needles or having unsafe sex. Cocaine is more dangerous when combined with other drugs or alcohol. It is easy to lose control over cocaine use and become addicted. Then, even if you get treatment, it can be hard to stay off the drug. People who stopped using cocaine can still feel strong cravings for the drug, sometimes even years later. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Cocaine +What is (are) Metabolic Syndrome ?,"Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are - High blood pressure - High blood glucose, or blood sugar, levels - High levels of triglycerides, a type of fat, in your blood - Low levels of HDL, the good cholesterol, in your blood - Too much fat around your waist Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, too much sugar builds up in your blood, setting the stage for disease. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Metabolic Syndrome +What is (are) Hemophilia ?,"Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Hemophilia +What is (are) Bursitis ?,"A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning your elbows on a hard surface for a long time can make bursitis start. Doing the same kinds of movements every day or putting stress on joints increases your risk. Symptoms of bursitis include pain and swelling. Your doctor will diagnose bursitis with a physical exam and tests such as x-rays and MRIs. He or she may also take fluid from the swollen area to be sure the problem isn't an infection. Treatment of bursitis includes rest, pain medicines, or ice. If there is no improvement, your doctor may inject a drug into the area around the swollen bursa. If the joint still does not improve after 6 to 12 months, you may need surgery to repair damage and relieve pressure on the bursa. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Bursitis +What is (are) Cerebellar Disorders ?,"When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include - Cancer - Genetic disorders - Ataxias - failure of muscle control in the arms and legs that result in movement disorders - Degeneration - disorders caused by brain cells decreasing in size or wasting away Treatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Cerebellar Disorders +Do you have information about Water Pollution,"Summary : We all need clean water. People need it to grow crops and to operate factories, and for drinking and recreation. Fish and wildlife depend on it to survive. Many different pollutants can harm our rivers, streams, lakes, and oceans. The three most common are soil, nutrients, and bacteria. Rain washes soil into streams and rivers. The soil can kill tiny animals and fish eggs. It can clog the gills of fish and block light, causing plants to die. Nutrients, often from fertilizers, cause problems in lakes, ponds, and reservoirs. Nitrogen and phosphorus make algae grow and can turn water green. Bacteria, often from sewage spills, can pollute fresh or salt water. You can help protect your water supply: - Don't pour household products such as cleansers, beauty products, medicines, auto fluids, paint, and lawn care products down the drain. Take them to a hazardous waste collection site. - Throw away excess household grease (meat fats, lard, cooking oil, shortening, butter, margarine, etc.) diapers, condoms, and personal hygiene products in the garbage can. - Clean up after your pets. Pet waste contains nutrients and germs. Environmental Protection Agency",MPlusHealthTopics,Water Pollution +What is (are) Bacterial Infections ?,"Bacteria are living things that have only one cell. Under a microscope, they look like balls, rods, or spirals. They are so small that a line of 1,000 could fit across a pencil eraser. Most bacteria won't hurt you - less than 1 percent of the different types make people sick. Many are helpful. Some bacteria help to digest food, destroy disease-causing cells, and give the body needed vitamins. Bacteria are also used in making healthy foods like yogurt and cheese. But infectious bacteria can make you ill. They reproduce quickly in your body. Many give off chemicals called toxins, which can damage tissue and make you sick. Examples of bacteria that cause infections include Streptococcus, Staphylococcus, and E. coli. Antibiotics are the usual treatment. When you take antibiotics, follow the directions carefully. Each time you take antibiotics, you increase the chances that bacteria in your body will learn to resist them causing antibiotic resistance. Later, you could get or spread an infection that those antibiotics cannot cure. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Bacterial Infections +What is (are) Clostridium Difficile Infections ?,"Clostridium difficile (C. difficile) is a bacterium that causes diarrhea and more serious intestinal conditions such as colitis. Symptoms include - Watery diarrhea (at least three bowel movements per day for two or more days) - Fever - Loss of appetite - Nausea - Abdominal pain or tenderness You might get C. difficile disease if you have an illness that requires prolonged use of antibiotics. Increasingly, the disease can also be spread in the hospital. The elderly are also at risk. Treatment is with antibiotics. Centers for Disease Control and Prevention",MPlusHealthTopics,Clostridium Difficile Infections +Do you have information about Ozone,"Summary : Ozone is a gas. It can be good or bad, depending on where it is. ""Good"" ozone occurs naturally about 10 to 30 miles above the Earth's surface. It shields us from the sun's ultraviolet rays. Part of the good ozone layer is gone. Man-made chemicals have destroyed it. Without enough good ozone, people may get too much ultraviolet radiation. This may increase the risk of skin cancer, cataracts, and immune system problems. ""Bad"" ozone is at ground level. It forms when pollutants from cars, factories, and other sources react chemically with sunlight. It is the main ingredient in smog. It is usually worst in the summer. Breathing bad ozone can be harmful. It can cause coughing, throat irritation, worsening of asthma, bronchitis, and emphysema. It can lead to permanent lung damage, if you are regularly exposed to it. Environmental Protection Agency",MPlusHealthTopics,Ozone +What is (are) Erectile Dysfunction ?,"Erectile dysfunction (ED) is a common type of male sexual dysfunction. It is when a man has trouble getting or keeping an erection. ED becomes more common as you get older. But it's not a natural part of aging. Some people have trouble speaking with their doctors about sex. But if you have ED, you should tell your doctor. ED can be a sign of health problems. It may mean your blood vessels are clogged. It may mean you have nerve damage from diabetes. If you don't see your doctor, these problems will go untreated. Your doctor can offer several new treatments for ED. For many men, the answer is as simple as taking a pill. Getting more exercise, losing weight, or stopping smoking may also help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Erectile Dysfunction +What is (are) Chemical Emergencies ?,"When a hazardous chemical has been released, it may harm people's health. Chemical releases can be unintentional, as in the case of an industrial accident. They could also be planned, as in the case of a terrorist attack with a chemical weapon. Some hazardous chemicals have been developed by military organizations for use in warfare. Examples are nerve agents such as sarin and VX. Many hazardous chemicals are used in industry - for example, chlorine, ammonia, and benzene. Some can be made from everyday items such as household cleaners. Although there are no guarantees of safety during a chemical emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention",MPlusHealthTopics,Chemical Emergencies +What is (are) Tendinitis ?,"Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon. Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. Some common forms of tendinitis are named after the sports that increase their risk. They include tennis elbow, golfer's elbow, pitcher's shoulder, swimmer's shoulder, and jumper's knee. Doctors diagnose tendinitis with your medical history, a physical exam, and imaging tests. The first step in treatment is to reduce pain and swelling. Rest, wrapping or elevating the affected area, and medicines can help. Ice is helpful for recent, severe injuries. Other treatments include ultrasound, physical therapy, steroid injections, and surgery.",MPlusHealthTopics,Tendinitis +What is (are) Cat Scratch Disease ?,"Cat scratch disease (CSD) is an illness caused by the bacterium Bartonella henselae. Almost half of all cats carry the infection at some point. The infection does not make cats sick. However, the scratch or bite of an infected cat can cause symptoms in people, including - Swollen lymph nodes, especially around the head, neck, and upper limbs - Fever - Headache - Fatigue - Poor appetite For people with weak immune systems, CSD may cause more serious problems. The best way to avoid CSD is to avoid rough play with cats that could lead to scratches or bites. If you do get a scratch or bite, wash it well with soap and water. If the bite or scratch gets infected or if you have symptoms of CSD, call your doctor. Centers for Disease Control and Prevention",MPlusHealthTopics,Cat Scratch Disease +Do you have information about Weight Control,"Summary : Keeping a healthy weight is crucial. If you are underweight, overweight, or obese, you may have a higher risk of certain health problems. About two thirds of adults in the U.S. are overweight or obese. Achieving a healthy weight can help you control your cholesterol, blood pressure and blood sugar. It might also help you prevent weight-related diseases, such as heart disease, diabetes, arthritis and some cancers. Eating too much or not being physically active enough will make you overweight. To maintain your weight, the calories you eat must equal the energy you burn. To lose weight, you must use more calories than you eat. A weight-control strategy might include - Choosing low-fat, low-calorie foods - Eating smaller portions - Drinking water instead of sugary drinks - Being physically active Eating extra calories within a well-balanced diet can help to add weight. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Weight Control +What is (are) Bell's Palsy ?,"Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include - Twitching - Weakness - Paralysis - Drooping eyelid or corner of mouth - Drooling - Dry eye or mouth - Excessive tearing in the eye - Impaired ability to taste Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Bell's Palsy +What is (are) Jaundice ?,"Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow. Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as - Blood diseases - Genetic syndromes - Liver diseases, such as hepatitis or cirrhosis - Blockage of bile ducts - Infections - Medicines",MPlusHealthTopics,Jaundice +What is (are) Aneurysms ?,"An aneurysm is a bulge or ""ballooning"" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Aneurysms +Do you have information about MRI Scans,"Summary : Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord. During the scan, you lie on a table that slides inside a tunnel-shaped machine. Doing the scan can take a long time, and you must stay still. The scan is painless. The MRI machine makes a lot of noise. The technician may offer you earplugs. Before you get a scan, tell your doctor if you - Are pregnant - Have pieces of metal in your body. You might have metal in your body if you have a shrapnel or bullet injury or if you are a welder. - Have metal or electronic devices in your body, such as a cardiac pacemaker or a metal artificial joint",MPlusHealthTopics,MRI Scans +What is (are) Lead Poisoning ?,"Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by - Eating food or drinking water that contains lead. Water pipes in older homes may contain lead. - Working in a job where lead is used - Using lead in a hobby, such as making stained glass or lead-glazed pottery - Using folk remedies such as herbs or foods that contain lead Breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. Lead can affect almost every organ and system in your body. In adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. It can also make you irritable and affect your ability to concentrate and remember. Lead is especially dangerous for children. A child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. Even at low levels, lead can affect a child's mental and physical growth. Agency for Toxic Substances Disease Registry",MPlusHealthTopics,Lead Poisoning +What is (are) Bleeding Disorders ?,"Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. Bleeding disorders can be the result of other diseases, such as severe liver disease. They can also be inherited. Hemophilia is an inherited bleeding disorder. Bleeding disorders can also be a side effect of medicines.",MPlusHealthTopics,Bleeding Disorders +What is (are) Parasitic Diseases ?,"Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world. If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections.",MPlusHealthTopics,Parasitic Diseases +What is (are) Coronavirus Infections ?,"Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can cause severe illness. Coronaviruses probably spread through the air by coughing or sneezing, or by close personal contact. If you get infected, symptoms may include - Runny nose - Cough - Sore throat - Fever You may be able to reduce your risk of infection by washing your hands often with soap and water, not touching your eyes, nose, or mouth, and avoiding close contact with people who are sick. There is no vaccine to prevent coronavirus infection. There are no specific treatments. You can relieve symptoms with pain and fever medicines and rest. Centers for Disease Control and Prevention",MPlusHealthTopics,Coronavirus Infections +What is (are) Pulmonary Fibrosis ?,"Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis. Symptoms include - Shortness of breath - A dry, hacking cough that doesn't get better - Fatigue - Weight loss for no known reason - Aching muscles and joints - Clubbing, which is the widening and rounding of the tips of the fingers or toes Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pulmonary Fibrosis +Do you have information about Impaired Driving,"Summary : Impaired driving is dangerous. It's the cause of more than half of all car crashes. It means operating a motor vehicle while you are affected by - Alcohol - Legal or illegal drugs - Sleepiness - Distractions, such as using a cell phone or texting - Having a medical condition which affects your driving For your safety and the safety of others, do not drive while impaired. Have someone else drive you or take public transportation when you cannot drive. If you need to take a call or send a text message, pull over. National Highway Traffic Safety Administration",MPlusHealthTopics,Impaired Driving +What is (are) Sun Exposure ?,"Ultraviolet (UV) rays are an invisible form of radiation. They can pass through your skin and damage your skin cells. Sunburns are a sign of skin damage. Suntans aren't healthy, either. They appear after the sun's rays have already killed some cells and damaged others. UV rays can cause skin damage during any season or at any temperature. They can also cause eye problems, wrinkles, skin spots, and skin cancer. To protect yourself - Stay out of the sun when it is strongest (between 10 a.m. and 2 p.m.) - Use sunscreen with an SPF of 15 or higher - Wear protective clothing - Wear wraparound sunglasses that provide 100 percent UV ray protection - Avoid sunlamps and tanning beds Check your skin regularly for changes in the size, shape, color, or feel of birthmarks, moles, and spots. Such changes are a sign of skin cancer. Food and Drug Administration",MPlusHealthTopics,Sun Exposure +Do you have information about Pregnancy and Medicines,"Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby than using the medicine. For example, many pregnant women take prescription medicines for health problems like diabetes, asthma, seizures, and heartburn. The decision about whether or not to take a medicine depends on the risks and benefits. You and your health care provider should make this choice together. Pregnant women should not take regular vitamins. They may have too much or too little of the vitamins that you need. There are special vitamins for pregnant women. It is important to take 0.4 mg of folic acid every day before you become pregnant through the first part of your pregnancy. Folic acid helps to prevent birth defects of the baby's brain or spine. Food and Drug Administration",MPlusHealthTopics,Pregnancy and Medicines +Do you have information about Metabolic Panel,"Summary : A metabolic panel is a group of tests that measures different chemicals in the blood. These tests are usually done on the fluid (plasma) part of blood. The tests provide information about your body's chemical balance and metabolism. They can give doctors information about your muscles (including the heart), bones, and organs, such as the kidneys and liver. There are two types: basic metabolic panel (BMP) and comprehensive metabolic panel (CMP). The BMP checks your blood sugar, calcium, and electrolytes. The BMP also has tests such as creatinine to check your kidney function. The CMP includes all of those tests, as well as tests of your cholesterol, protein levels, and liver function. You probably need to fast (not eat any food) before the test. Your doctor will tell you how to prepare for the test you are having.",MPlusHealthTopics,Metabolic Panel +What is (are) Aplastic Anemia ?,"Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Causes include - Toxic substances, such as pesticides, arsenic, and benzene - Radiation therapy and chemotherapy for cancer - Certain medicines - Infections such as hepatitis, Epstein-Barr virus, or HIV - Autoimmune disorders - Certain inherited conditions - Pregnancy In many people, the cause is unknown. Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. You may also have frequent infections and bleeding. Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Treatments include blood transfusions, blood and marrow stem cell transplants, and medicines. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Aplastic Anemia +Do you have information about Tornadoes,"Summary : Tornadoes are nature's most violent storms. They are rotating, funnel-shaped clouds that extend from a thunderstorm to the ground. Their whirling winds can reach 300 miles per hour. They can strike quickly with little or no warning, devastate a neighborhood in seconds, and leave a path of damage over a mile wide and 50 miles long. Tornadoes can also accompany tropical storms and hurricanes as they move onto land. Although there are no guarantees of safety during a tornado, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Tornadoes +What is (are) Attention Deficit Hyperactivity Disorder ?,"Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations. ADHD is more common in boys than girls. It affects 3-5 percent of all American children. The main features of ADHD are - Inattention - Hyperactivity - Impulsivity No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors. A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help. NIH: National Institute of Mental Health",MPlusHealthTopics,Attention Deficit Hyperactivity Disorder +What is (are) Mood Disorders ?,"Most people feel sad or irritable from time to time. They may say they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional state. Nearly one in ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called manic depression). Mood disorders can increase a person's risk for heart disease, diabetes, and other diseases. Treatments include medication, psychotherapy, or a combination of both. With treatment, most people with mood disorders can lead productive lives.",MPlusHealthTopics,Mood Disorders +What is (are) Degenerative Nerve Diseases ?,"Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is not known. Degenerative nerve diseases include - Alzheimer's disease - Amyotrophic lateral sclerosis - Friedreich's ataxia - Huntington's disease - Lewy body disease - Parkinson's disease - Spinal muscular atrophy Degenerative nerve diseases can be serious or life-threatening. It depends on the type. Most of them have no cure. Treatments may help improve symptoms, relieve pain, and increase mobility.",MPlusHealthTopics,Degenerative Nerve Diseases +What is (are) Granulomatosis with Polyangiitis ?,"Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is a rare disease. It is a type of vasculitis, or inflammation of the blood vessels. The inflammation limits the flow of blood to important organs, causing damage. It can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs, and kidneys. The cause of GPA is unknown. It can affect people at any age. Men and women are equally affected. It is more common in whites. Symptoms may include joint pain, weakness, tiredness, and cold symptoms such as a runny nose that doesn't get better. Doctors use blood tests, chest X-rays, and biopsies to diagnose GPA and rule out other causes of the symptoms. Early treatment is important. Most people improve with medicines to slow or stop the inflammation. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Granulomatosis with Polyangiitis +What is (are) Genetic Disorders ?,"Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders: - Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example. - Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder. - Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine",MPlusHealthTopics,Genetic Disorders +What is (are) Health Disparities ?,"Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. These groups may be based on - Race - Ethnicity - Immigrant status - Disability - Sex or gender - Sexual orientation - Geography - Income NIH: National Institute on Minority Health and Health Disparities",MPlusHealthTopics,Health Disparities +What is (are) Fever ?,"A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including - Medicines - Heat exhaustion - Cancers - Autoimmune diseases Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.",MPlusHealthTopics,Fever +What is (are) Abdominal Pain ?,"Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if - You have abdominal pain that is sudden and sharp - You also have pain in your chest, neck or shoulder - You're vomiting blood or have blood in your stool - Your abdomen is stiff, hard and tender to touch - You can't move your bowels, especially if you're also vomiting",MPlusHealthTopics,Abdominal Pain +What is (are) Transient Ischemic Attack ?,"A transient ischemic attack (TIA) is a stroke that comes and goes quickly. It happens when the blood supply to part of the brain stops briefly. Symptoms of a TIA are like other stroke symptoms, but do not last as long. They happen suddenly, and include - Numbness or weakness, especially on one side of the body - Confusion or trouble speaking or understanding speech - Trouble seeing in one or both eyes - Loss of balance or coordination Most symptoms of a TIA disappear within an hour, although they may last for up to 24 hours. Because you cannot tell if these symptoms are from a TIA or a stroke, you should get to the hospital quickly. TIAs are often a warning sign for future strokes. Taking medicine, such as blood thinners, may reduce your risk of a stroke. Your doctor might also recommend surgery. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Transient Ischemic Attack +Do you have information about Germs and Hygiene,"Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands. - Cleaning your hands often - always before you eat or prepare food, and after you use the bathroom or change a diaper - Avoiding touching your eyes, nose or mouth Hand washing is one of the most effective and most overlooked ways to stop disease. Soap and water work well to kill germs. Wash for at least 20 seconds and rub your hands briskly. Disposable hand wipes or gel sanitizers also work well.",MPlusHealthTopics,Germs and Hygiene +What is (are) Aortic Aneurysm ?,"An aneurysm is a bulge or ""ballooning"" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms are in the aorta, the main artery that runs from the heart through the chest and abdomen. There are two types of aortic aneurysm: - Thoracic aortic aneurysms - these occur in the part of the aorta running through the chest - Abdominal aortic aneurysms - these occur in the part of the aorta running through the abdomen Most aneurysms are found during tests done for other reasons. Some people are at high risk for aneurysms. It is important for them to get screening, because aneurysms can develop and become large before causing any symptoms Screening is recommended for people between the ages of 65 and 75 if they have a family history, or if they are men who have smoked. Doctors use imaging tests to find aneurysms. Medicines and surgery are the two main treatments. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Aortic Aneurysm +What is (are) Soft Tissue Sarcoma ?,"Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute",MPlusHealthTopics,Soft Tissue Sarcoma +What is (are) Infections and Pregnancy ?,"If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections: - Don't eat raw or undercooked meat - Don't share food or drinks with other people - Wash your hands frequently - Don't empty cat litter. Cats can transmit toxoplasmosis. You may need to take medicines or get a vaccine to prevent an infection in your baby. For example, you may need to take antibiotics if you develop an infection with group B strep, or take medicines if you have genital herpes. Only some medicines and vaccines are safe during pregnancy. Ask your health care provider about how best to protect you and your baby.",MPlusHealthTopics,Infections and Pregnancy +What is (are) Eczema ?,"Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. Eczema is not contagious. The cause is not known. It is likely caused by both genetic and environmental factors. Eczema may get better or worse over time, but it is often a long-lasting disease. People who have it may also develop hay fever and asthma. The most common type of eczema is atopic dermatitis. It is most common in babies and children but adults can have it too. As children who have atopic dermatitis grow older, this problem may get better or go away. But sometimes the skin may stay dry and get irritated easily. Treatments may include medicines, skin creams, light therapy, and good skin care. You can prevent some types of eczema by avoiding - Things that irritate your skin, such as certain soaps, fabrics, and lotions - Stress - Things you are allergic to, such as food, pollen, and animals NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Eczema +What is (are) Sinusitis ?,"Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including - Acute, which lasts up to 4 weeks - Subacute, which lasts 4 to 12 weeks - Chronic, which lasts more than 12 weeks and can continue for months or even years - Recurrent, with several attacks within a year Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Sinusitis +What is (are) Scars ?,"A scar is a permanent patch of skin that grows over a wound. It forms when your body heals itself after a cut, scrape, burn, or sore. You can also get scars from surgery that cuts through the skin, infections like chickenpox, or skin conditions like acne. Scars are often thicker, as well as pinker, redder, or shinier, than the rest of your skin. How your scar looks depends on - How big and deep your wound is - Where it is - How long it takes to heal - Your age - Your inherited tendency to scar Scars usually fade over time but never go away completely. If the way a scar looks bothers you, various treatments might minimize it. These include surgical revision, dermabrasion, laser treatments, injections, chemical peels, and creams.",MPlusHealthTopics,Scars +Do you have information about Infant and Newborn Development,"Summary : When will my baby take his first step or say her first word? During their first year, babies start to develop skills they will use for the rest of their lives. The normal growth of babies can be broken down into the following areas: - Gross motor - controlling the head, sitting, crawling, maybe even starting to walk - Fine motor - holding a spoon, picking up a piece of cereal between thumb and finger - Sensory - seeing, hearing, tasting, touching and smelling - Language - starting to make sounds, learning some words, understanding what people say - Social - the ability to play with family members and other children Babies do not develop at the same rate. There is a wide range of what is considered ""normal."" Your baby may be ahead in some areas and slightly behind in others. If you are worried about possible delays, talk to your baby's health care provider.",MPlusHealthTopics,Infant and Newborn Development +Do you have information about Exercise and Physical Fitness,"Summary : Regular physical activity is one of the most important things you can do for your health. It can help - Control your weight - Lower your risk of heart disease - Lower your risk for type 2 diabetes and metabolic syndrome - Lower your risk of some cancers - Strengthen your bones and muscles - Improve your mental health and mood - Improve your ability to do daily activities and prevent falls, if you're an older adult - Increase your chances of living longer Fitting regular exercise into your daily schedule may seem difficult at first. But even ten minutes at a time is fine. The key is to find the right exercise for you. It should be fun and should match your abilities. Centers for Disease Control and Prevention",MPlusHealthTopics,Exercise and Physical Fitness +What is (are) Heart Diseases ?,"If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk: - Control your blood pressure - Lower your cholesterol - Don't smoke - Get enough exercise NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Diseases +What is (are) Neurologic Diseases ?,"The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy - Problems with the way the nervous system develops, such as spina bifida - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease - Diseases of the blood vessels that supply the brain, such as stroke - Injuries to the spinal cord and brain - Seizure disorders, such as epilepsy - Cancer, such as brain tumors - infections, such as meningitis",MPlusHealthTopics,Neurologic Diseases +What is (are) Rotator Cuff Injuries ?,"Your rotator cuff is located in your shoulder area. It is made of muscles and tendons. It helps your shoulder to move and stay stable. Problems with the rotator cuff are common. They include tendinitis, bursitis, and injuries such as tears. Rotator cuff tendons can become inflamed from frequent use or aging. Sometimes they are injured from a fall on an outstretched hand. Sports or jobs with repeated overhead motion can also damage the rotator cuff. Aging causes tendons to wear down, which can lead to a tear. Some tears are not painful, but others can be very painful. Treatment for a torn rotator cuff depends on age, health, how severe the injury is, and how long you've had the torn rotator cuff. Treatment for torn rotator cuff includes: - Rest - Heat or cold to the sore area - Medicines that reduce pain and swelling - Electrical stimulation of muscles and nerves - Ultrasound - Cortisone injection - Surgery NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease",MPlusHealthTopics,Rotator Cuff Injuries +What is (are) Liver Cancer ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver. Risk factors for primary liver cancer include - Having hepatitis B or C - Heavy alcohol use - Having cirrhosis, or scarring of the liver - Having hemochromatosis, an iron storage disease - Obesity and diabetes Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation. NIH: National Cancer Institute",MPlusHealthTopics,Liver Cancer +What is (are) Haemophilus Infections ?,"Haemophilus is the name of a group of bacteria. There are several types of Haemophilus. They can cause different types of illnesses involving breathing, bones and joints, and the nervous system. One common type, Hib (Haemophilus influenzae type b), causes serious disease. It usually strikes children under 5 years old. Your child can get Hib disease by being around other children or adults who may have the bacteria and not know it. The germs spread from person to person. If the germs stay in the child's nose and throat, the child probably will not get sick. But sometimes the germs spread into the lungs or the bloodstream, and then Hib can cause serious problems such as meningitis and pneumonia. There is a vaccine to prevent Hib disease. All children younger than 5 years of age should be vaccinated with the Hib vaccine. Centers for Disease Control and Prevention",MPlusHealthTopics,Haemophilus Infections +What is (are) Autism Spectrum Disorder ?,"Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. It is called a ""spectrum"" disorder because people with ASD can have a range of symptoms. People with ASD might have problems talking with you, or they might not look you in the eye when you talk to them. They may also have restricted interests and repetitive behaviors. They may spend a lot of time putting things in order, or they may say the same sentence again and again. They may often seem to be in their ""own world."" At well-child checkups, the health care provider should check your child's development. If there are signs of ASD, your child will have a comprehensive evaluation. It may include a team of specialists, doing various tests and evaluations to make a diagnosis. The causes of ASD are not known. Research suggests that both genes and environment play important roles. There is currently no one standard treatment for ASD. There are many ways to increase your child's ability to grow and learn new skills. Starting them early can lead to better results. Treatments include behavior and communication therapies, skills training, and medicines to control symptoms. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Autism Spectrum Disorder +What is (are) Heel Injuries and Disorders ?,"Heel problems are common and can be painful. Often, they result from too much stress on your heel bone and the tissues that surround it. That stress can come from - Injuries - Bruises that you get walking, running or jumping - Wearing shoes that don't fit or aren't made well - Being overweight These can lead to tendinitis, bursitis, and fasciitis, which are all types of inflammation of the tissues that surround your heel. Over time the stress can cause bone spurs and deformities. Certain diseases, such as rheumatoid arthritis and gout, can also lead to heel problems. Treatments for heel problems might include rest, medicines, exercises, taping, and special shoes. Surgery is rarely needed.",MPlusHealthTopics,Heel Injuries and Disorders +What is (are) Arthritis ?,"If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. Types of arthritis include - Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury. - Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis. - Juvenile arthritis is a type of arthritis that happens in children. - Infectious arthritis is an infection that has spread from another part of the body to the joint. - Psoriatic arthritis affects people with psoriasis. - Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Arthritis +What is (are) Meniere's Disease ?,"Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ears called tinnitus, hearing loss that comes and goes and the feeling of ear pressure or pain. It usually affects just one ear. It is a common cause of hearing loss. Attacks of dizziness may come on suddenly or after a short period of tinnitus or muffled hearing. Some people have single attacks of dizziness once in a while. Others may have many attacks close together over several days. Some people with Meniere's disease have ""drop attacks"" during which the dizziness is so bad they lose their balance and fall. Scientists don't yet know the cause. They think that it has to do with the fluid levels or the mixing of fluids in the canals of your inner ear. Doctors diagnose it based on a physical exam and your symptoms. A hearing test can check to see how it has affected your hearing. There is no cure. Treatments include medicines to control dizziness, limiting salt in your diet, and taking water pills. A device that fits into the outer ear and delivers air pulses to the middle ear can help. Severe cases may require surgery. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Meniere's Disease +What is (are) Bereavement ?,"Bereavement is the period of grief and mourning after a death. When you grieve, it's part of the normal process of reacting to a loss. You may experience grief as a mental, physical, social or emotional reaction. Mental reactions can include anger, guilt, anxiety, sadness and despair. Physical reactions can include sleeping problems, changes in appetite, physical problems or illness. How long bereavement lasts can depend on how close you were to the person who died, if the person's death was expected and other factors. Friends, family and faith may be sources of support. Grief counseling or grief therapy is also helpful to some people. NIH: National Cancer Institute",MPlusHealthTopics,Bereavement +Do you have information about Smokeless Tobacco,"Summary : Many people who chew tobacco or dip snuff think it's safer than smoking. But you don't have to smoke tobacco for it to be dangerous. Chewing or dipping carries risks like - Cancer of the mouth - Decay of exposed tooth roots - Pulling away of the gums from the teeth - White patches or red sores in the mouth that can turn to cancer Recent research shows the dangers of smokeless tobacco may go beyond the mouth. It might also play a role in other cancers, heart disease and stroke. Smokeless tobacco contains more nicotine than cigarettes. Nicotine is a highly addictive drug that makes it hard to stop using tobacco once you start. Having a quit date and a quitting plan can help you stop successfully. NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Smokeless Tobacco +What is (are) Head Injuries ?,"Chances are you've bumped your head before. Usually, the injury is minor because your skull is hard and it protects your brain. But other head injuries can be more severe, such as a skull fracture, concussion, or traumatic brain injury. Head injuries can be open or closed. A closed injury does not break through the skull. With an open, or penetrating, injury, an object pierces the skull and enters brain tissue. Closed injuries are not always less severe than open injuries. Some common causes of head injuries are falls, motor vehicle accidents, violence, and sports injuries. It is important to know the warning signs of a moderate or severe head injury. Get help immediately if the injured person has - A headache that gets worse or does not go away - Repeated vomiting or nausea - Convulsions or seizures - An inability to wake up - Dilation of one or both pupils of the eyes - Slurred speech - Weakness or numbness in the arms or legs - Loss of coordination - Increased confusion, restlessness, or agitation NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Head Injuries +What is (are) Child Behavior Disorders ?,"All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. The behavior is also not appropriate for the child's age. Warning signs can include - Harming or threatening themselves, other people or pets - Damaging or destroying property - Lying or stealing - Not doing well in school, skipping school - Early smoking, drinking or drug use - Early sexual activity - Frequent tantrums and arguments - Consistent hostility towards authority figures If you see signs of a problem, ask for help. Poor choices can become habits. Kids who have behavior problems are at higher risk for school failure, mental health problems, and even suicide. Classes or family therapy may help parents learn to set and enforce limits. Talk therapy and behavior therapy for your child can also help.",MPlusHealthTopics,Child Behavior Disorders +What is (are) Deep Vein Thrombosis ?,"Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are - Warmth and tenderness over the vein - Pain or swelling in the part of the body affected - Skin redness Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.",MPlusHealthTopics,Deep Vein Thrombosis +What is (are) Mycobacterial Infections ?,"Mycobacteria are a type of germ. There are many different kinds. The most common one causes tuberculosis. Another one causes leprosy. Still others cause infections that are called atypical mycobacterial infections. They aren't ""typical"" because they don't cause tuberculosis. But they can still harm people, especially people with other problems that affect their immunity, such as AIDS. Sometimes you can have these infections with no symptoms at all. At other times, they can cause lung symptoms similar to tuberculosis: - Cough - Weight loss - Coughing up blood or mucus - Weakness or fatigue - Fever and chills - Night sweats - Lack of appetite and weight loss Medicines can treat these infections, but often more than one is needed to cure the infection.",MPlusHealthTopics,Mycobacterial Infections +What is (are) Health Problems in Pregnancy ?,"Every pregnancy has some risk of problems. The causes can be conditions you already have or conditions you develop. They also include being pregnant with more than one baby, previous problem pregnancies, or being over age 35. They can affect your health and the health of your baby. If you have a chronic condition, you should talk to your health care provider about how to minimize your risk before you get pregnant. Once you are pregnant, you may need a health care team to monitor your pregnancy. Examples of common conditions that can complicate a pregnancy include - Heart disease - High blood pressure - Kidney problems - Autoimmune disorders - Sexually transmitted diseases - Diabetes - Cancer - Infections Other conditions that can make pregnancy risky can happen while you are pregnant - for example, gestational diabetes and Rh incompatibility. Good prenatal care can help detect and treat them. Some discomforts, like nausea, back pain, and fatigue, are common during pregnancy. Sometimes it is hard to know what is normal. Call your doctor or midwife if something is bothering or worrying you.",MPlusHealthTopics,Health Problems in Pregnancy +Do you have information about Stem Cells,"Summary : Stem cells are cells with the potential to develop into many different types of cells in the body. They serve as a repair system for the body. There are two main types of stem cells: embryonic stem cells and adult stem cells. Stem cells are different from other cells in the body in three ways: - They can divide and renew themselves over a long time - They are unspecialized, so they cannot do specific functions in the body - They have the potential to become specialized cells, such as muscle cells, blood cells, and brain cells Doctors and scientists are excited about stem cells because they could help in many different areas of health and medical research. Studying stem cells may help explain how serious conditions such as birth defects and cancer come about. Stem cells may one day be used to make cells and tissues for therapy of many diseases. Examples include Parkinson's disease, Alzheimer's disease, spinal cord injury, heart disease, diabetes, and arthritis. NIH: National Institutes of Health",MPlusHealthTopics,Stem Cells +What is (are) Respiratory Failure ?,"Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can't remove carbon dioxide (a waste gas) from your blood. Too much carbon dioxide in your blood can harm your body's organs. Diseases and conditions that affect your breathing can cause respiratory failure. Examples include - Lung diseases such as COPD (chronic obstructive pulmonary disease), pneumonia, pulmonary embolism, and cystic fibrosis - Conditions that affect the nerves and muscles that control breathing, such as spinal cord injuries, muscular dystrophy and stroke - Damage to the tissues and ribs around the lungs. An injury to the chest can cause this damage. - Drug or alcohol overdose - Injuries from inhaling smoke or harmful fumes Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and how severe it is. It also depends on the underlying cause. You may receive oxygen therapy and other treatment to help you breathe. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Respiratory Failure +What is (are) Diabetic Kidney Problems ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste and fluids build up in your blood instead of leaving your body. Kidney damage from diabetes is called diabetic nephropathy. It begins long before you have symptoms. An early sign of it is small amounts of protein in your urine. A urine test can detect it. A blood test can also help determine how well your kidneys are working. If the damage continues, your kidneys could fail. In fact, diabetes is the most common cause of kidney failure in the United States. People with kidney failure need either dialysis or a kidney transplant. You can slow down kidney damage or keep it from getting worse. Controlling your blood sugar and blood pressure, taking your medicines and not eating too much protein can help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Kidney Problems +Do you have information about Plastic and Cosmetic Surgery,"Summary : Surgeons can reshape the appearance of body parts through cosmetic surgery. Some of the most common body parts people want to improve through surgery include - Breasts: Increase or reduce the size of breasts or reshape sagging breasts - Ears: Reduce the size of large ears or set protruding ears back closer to the head - Eyes: Correct drooping upper eyelids or remove puffy bags below the eyes - Face: Remove facial wrinkles, creases or acne scars - Hair: Fill in balding areas with one's own hair - Nose: Change the shape of the nose - Tummy: Flatten the abdomen",MPlusHealthTopics,Plastic and Cosmetic Surgery +What is (are) Acne ?,"Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse. If you have acne - Clean your skin gently - Try not to touch your skin - Avoid the sun Treatments for acne include medicines and creams. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Acne +What is (are) Cirrhosis ?,"Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to - Easy bruising or bleeding, or nosebleeds - Swelling of the abdomen or legs - Extra sensitivity to medicines - High blood pressure in the vein entering the liver - Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure - Jaundice - Severe itching - Gallstones A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Cirrhosis +What is (are) Endocrine Diseases ?,"Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include - Growth and development - Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature - Sexual function - Reproduction - Mood If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.",MPlusHealthTopics,Endocrine Diseases +What is (are) Emergency Medical Services ?,"If you get very sick or badly hurt and need help right away, you should use emergency medical services. These services use specially trained people and specially equipped facilities. You may need care in the hospital emergency room (ER). Doctors and nurses there treat emergencies, such as heart attacks and injuries. For some emergencies, you need help where you are. Emergency medical technicians, or EMTs, do specific rescue jobs. They answer emergency calls and give basic medical care. Some EMTs are paramedics - they have training to do medical procedures on site. They usually take you to the ER for more care. If you or someone you know needs emergency care, go to your hospital's emergency room. If you think the problem is life threatening, call 9-1-1.",MPlusHealthTopics,Emergency Medical Services +Do you have information about DASH Diet,"Summary : DASH stands for Dietary Approaches to Stop Hypertension. It is an eating plan that is based on research studies sponsored by the National Heart, Lung, and Blood Institute (NHLBI). These studies showed that DASH lowers high blood pressure and improves levels of cholesterol. This reduces your risk of getting heart disease. The DASH Diet - Emphasizes vegetables, fruits, and fat-free or low-fat dairy products. - Includes whole grains, fish, poultry, beans, seeds, nuts, and vegetable oils. - Limits sodium, sweets, sugary beverages, and red meats. Along with DASH, other lifestyle changes can help lower your blood pressure. They include staying at a healthy weight, exercising, and not smoking. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,DASH Diet +Do you have information about Common Infant and Newborn Problems,"Summary : It is hard when your baby is sick. Common health problems in babies include colds, coughs, fevers, and vomiting. Babies also commonly have skin problems, like diaper rash or cradle cap. Many of these problems are not serious. It is important to know how to help your sick baby, and to know the warning signs for more serious problems. Trust your intuition - if you are worried about your baby, call your health care provider right away.",MPlusHealthTopics,Common Infant and Newborn Problems +What is (are) Sexual Assault ?,"Sexual assault is any sexual activity to which you haven't freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. It can happen to men, women or children. The attacker can be anyone - a current or former partner, a family member, a person in position of power or trust, a friend, an acquaintance, or a stranger. Sexual assault can affect your health in many ways. It can lead to long-term health and emotional problems. It is important to seek help if you have been assaulted. First, get to a safe place. Then dial 9-1-1 or go to a hospital for medical care. You may want to have counseling to deal with your feelings. The most important thing to know is that the assault was not your fault. Centers for Disease Control and Prevention",MPlusHealthTopics,Sexual Assault +Do you have information about Carbohydrates,"Summary : Carbohydrates are one of the main types of nutrients. They are the most important source of energy for your body. Your digestive system changes carbohydrates into glucose (blood sugar). Your body uses this sugar for energy for your cells, tissues and organs. It stores any extra sugar in your liver and muscles for when it is needed. Carbohydrates are called simple or complex, depending on their chemical structure. Simple carbohydrates include sugars found naturally in foods such as fruits, vegetables, milk, and milk products. They also include sugars added during food processing and refining. Complex carbohydrates include whole grain breads and cereals, starchy vegetables and legumes. Many of the complex carbohydrates are good sources of fiber. For a healthy diet, limit the amount of added sugar that you eat and choose whole grains over refined grains.",MPlusHealthTopics,Carbohydrates +Do you have information about Nutritional Support,"Summary : Nutritional support is therapy for people who cannot get enough nourishment by eating or drinking. You may need it if you - Can't swallow - Have problems with your appetite - Are severely malnourished - Can't absorb nutrients through your digestive system You receive nutritional support through a needle or catheter placed in your vein or with a feeding tube, which goes into your stomach.",MPlusHealthTopics,Nutritional Support +Do you have information about Child Safety,"Summary : As parents, we want to keep our children safe from harm. Take steps to keep your children safe: - Install the right child safety seat in your car - Teach children how to cross the street safely - Make sure they wear the right gear and equipment for sports - Install and test smoke alarms - Store medicines, cleaners and other dangerous substances in locked cabinets - Babyproof your home - Don't leave small children unattended",MPlusHealthTopics,Child Safety +Do you have information about Teen Health,"Summary : As a teenager, you go through many changes. Your body is on its way to becoming its adult size. You may notice that you can't fit into your old shoes or that your jeans are now 3 inches too short. Along with these changes, you are probably becoming more independent and making more of your own choices. Some of the biggest choices you face are about your health. Healthy habits, including eating a healthy diet and being physically active, can help you feel good, look good, and do your best in school, work, or sports. They might also prevent diseases such as diabetes, high blood pressure, heart disease, osteoporosis, stroke, and some cancers when you are older.",MPlusHealthTopics,Teen Health +What is (are) Autonomic Nervous System Disorders ?,"Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including - Blood pressure problems - Heart problems - Trouble with breathing and swallowing - Erectile dysfunction in men Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. Some types are temporary, but many worsen over time. When they affect your breathing or heart function, these disorders can be life-threatening. Some autonomic nervous system disorders get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Autonomic Nervous System Disorders +Do you have information about Fires,"Summary : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames. Heat and smoke from fire can be more dangerous than the flames. Inhaling the super-hot air can burn your lungs. Fire produces poisonous gases that make you disoriented and drowsy. Instead of being awakened by a fire, you may fall into a deeper sleep. You can suffocate or be burned. Preventing fires is an important part of fire safety. Although there are no guarantees of safety during a fire, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Fires +What is (are) High Blood Pressure ?,"Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of - 119/79 or lower is normal blood pressure - 140/90 or higher is high blood pressure - Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,High Blood Pressure +What is (are) Hantavirus Infections ?,"Hantavirus pulmonary syndrome (HPS) is a rare but deadly viral infection. It is spread by mice and rats. They shed the virus in their urine, droppings, and saliva. Tiny droplets with the virus can enter the air. People can get the disease if they breathe infected air or come into contact with rodents or their urine or droppings. You cannot catch it from people. Early symptoms of HPS include - Fatigue - Fever - Muscle aches, especially in the thighs, hips and back - Headaches - Chills - Dizziness - Nausea, vomiting, diarrhea or abdominal pain Later symptoms include coughing and shortness of breath. Controlling rodents in and around your house is the best way to prevent infection. If you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. There is no specific treatment, cure, or vaccine for HPS. Patients may do better if it is recognized early and they get medical care in an intensive care unit. They often need to use a breathing machine and have oxygen therapy. Centers for Disease Control and Prevention",MPlusHealthTopics,Hantavirus Infections +What is (are) Eating Disorders ?,"Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay healthy. They also involve extreme concern about your shape or weight. Types of eating disorders include - Anorexia nervosa, in which you become too thin, but you don't eat enough because you think you are fat - Bulimia nervosa, which involves periods of overeating followed by purging, sometimes through self-induced vomiting or using laxatives - Binge-eating, which is out-of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can lead to heart and kidney problems and even death. Getting help early is important. Treatment involves monitoring, talk therapy, nutritional counseling, and sometimes medicines. NIH: National Institute of Mental Health",MPlusHealthTopics,Eating Disorders +What is (are) Testicular Cancer ?,"Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of 20 and 39. It is also more common in men who - Have had abnormal testicle development - Have had an undescended testicle - Have a family history of the cancer Symptoms include pain, swelling, or lumps in your testicles or groin area. Doctors use a physical exam, lab tests, imaging tests, and a biopsy to diagnose testicular cancer. Most cases can be treated, especially if found early. Treatment options include surgery, radiation, and/or chemotherapy. Regular exams after treatment are important. Treatments may also cause infertility. If you may want children later on, you should consider sperm banking before treatment. NIH: National Cancer Institute",MPlusHealthTopics,Testicular Cancer +What is (are) Foreign Bodies ?,"If you've ever gotten a splinter or had sand in your eye, you've had experience with a foreign body. A foreign body is something that is stuck inside you but isn't supposed to be there. You may inhale or swallow a foreign body, or you may get one from an injury to almost any part of your body. Foreign bodies are more common in small children, who sometimes stick things in their mouths, ears, and noses. Some foreign bodies, like a small splinter, do not cause serious harm. Inhaled or swallowed foreign bodies may cause choking or bowel obstruction and may require medical care.",MPlusHealthTopics,Foreign Bodies +What is (are) Kidney Failure ?,"Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Kidney Failure +Do you have information about Toddler Development,"Summary : Mastering new skills such as how to walk, talk, and use the potty are developmental milestones. It is exciting to watch your toddler learn new skills. The normal development of children aged 1-3 can be broken down into the following areas: - Gross motor - walking, running, climbing - Fine motor - feeding themselves, drawing - Sensory - seeing, hearing, tasting, touching, and smelling - Language - saying single words, then sentences - Social - playing with others, taking turns, doing fantasy play Toddlers do not develop at the same rate. There is a wide range of what is considered ""normal."" Your child may be ahead in some areas and slightly behind in others. If you are worried about possible delays, talk to your child's health care provider.",MPlusHealthTopics,Toddler Development +What is (are) Breathing Problems ?,"When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease. Many conditions can make you feel short of breath. Lung conditions such as asthma, emphysema or pneumonia cause breathing difficulties. So can problems with your trachea or bronchi, which are part of your airway system. Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. Stress caused by anxiety can also make it hard for you to breathe. If you often have trouble breathing, it is important to find out the cause.",MPlusHealthTopics,Breathing Problems +Do you have information about Biodefense and Bioterrorism,"Summary : A bioterrorism attack is the deliberate release of viruses, bacteria, or other germs to cause illness or death. These germs are often found in nature. But they can sometimes be made more harmful by increasing their ability to cause disease, spread, or resist medical treatment. Biological agents spread through the air, water, or in food. Some can also spread from person to person. They can be very hard to detect. They don't cause illness for several hours or days. Scientists worry that anthrax, botulism, Ebola and other hemorrhagic fever viruses, plague, or smallpox could be used as biological agents. Biodefense uses medical measures to protect people against bioterrorism. This includes medicines and vaccinations. It also includes medical research and preparations to defend against bioterrorist attacks. Centers for Disease Control and Prevention",MPlusHealthTopics,Biodefense and Bioterrorism +What is (are) Adrenal Gland Disorders ?,"The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include - Genetic mutations - Tumors including pheochromocytomas - Infections - A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland - Certain medicines Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Adrenal Gland Disorders +Do you have information about Antioxidants,"Summary : Antioxidants are man-made or natural substances that may prevent or delay some types of cell damage. Antioxidants are found in many foods, including fruits and vegetables. They are also available as dietary supplements. Examples of antioxidants include - Beta-carotene - Lutein - Lycopene - Selenium - Vitamin A - Vitamin C - Vitamin E Vegetables and fruits are rich sources of antioxidants. There is good evidence that eating a diet with lots of vegetables and fruits is healthy and lowers risks of certain diseases. But it isn't clear whether this is because of the antioxidants, something else in the foods, or other factors. High-dose supplements of antioxidants may be linked to health risks in some cases. For example, high doses of beta-carotene may increase the risk of lung cancer in smokers. High doses of vitamin E may increase risks of prostate cancer and one type of stroke. Antioxidant supplements may also interact with some medicines. To minimize risk, tell you of your health care providers about any antioxidants you use. NIH: National Center for Complementary and Integrative Health",MPlusHealthTopics,Antioxidants +Do you have information about Body Weight,"Summary : Do you know if your current weight is healthy? ""Underweight"", ""normal"", ""overweight"", and ""obese"" are all labels for ranges of weight. Obese and overweight mean that your weight is greater than it should be for your health. Underweight means that it is lower than it should be for your health. Your healthy body weight depends on your sex and height. For children, it also depends on your age. A sudden, unexpected change in weight can be a sign of a medical problem. Causes for sudden weight loss can include - Thyroid problems - Cancer - Infectious diseases - Digestive diseases - Certain medicines Sudden weight gain can be due to medicines, thyroid problems, heart failure, and kidney disease. Good nutrition and exercise can help in losing weight. Eating extra calories within a well-balanced diet and treating any underlying medical problems can help to add weight.",MPlusHealthTopics,Body Weight +Do you have information about Antibiotics,"Summary : Antibiotics are powerful medicines that fight bacterial infections. Used properly, antibiotics can save lives. They either kill bacteria or keep them from reproducing. Your body's natural defenses can usually take it from there. Antibiotics do not fight infections caused by viruses, such as - Colds - Flu - Most coughs and bronchitis - Sore throats, unless caused by strep If a virus is making you sick, taking antibiotics may do more harm than good. Using antibiotics when you don't need them, or not using them properly, can add to antibiotic resistance. This happens when bacteria change and become able to resist the effects of an antibiotic. When you take antibiotics, follow the directions carefully. It is important to finish your medicine even if you feel better. If you stop treatment too soon, some bacteria may survive and re-infect you. Do not save antibiotics for later or use someone else's prescription. Centers for Disease Control and Prevention",MPlusHealthTopics,Antibiotics +Do you have information about Steroids,"Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. They reduce inflammation and affect the immune system. You may need to take corticosteroids to treat - Arthritis - Asthma - Autoimmune diseases such as lupus and multiple sclerosis - Skin conditions such as eczema and rashes - Some kinds of cancer Steroids are strong medicines, and they can have side effects, including weakened bones and cataracts. Because of this, you usually take them for as short a time as possible.",MPlusHealthTopics,Steroids +What is (are) Hemorrhagic Stroke ?,"A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Hemorrhagic stroke is the less common type. It happens when a blood vessel breaks and bleeds into the brain. Within minutes, brain cells begin to die. Causes include a bleeding aneurysm, an arteriovenous malformation (AVM), or an artery wall that breaks open. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause It is important to treat strokes as quickly as possible. With a hemorrhagic stroke, the first steps are to find the cause of bleeding in the brain and then control it. Surgery may be needed. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Hemorrhagic Stroke +What is (are) Tailbone Disorders ?,"The tailbone is the small bone at the bottom of your backbone, or spine. Tailbone disorders include tailbone injuries, pain, infections, cysts and tumors. You rarely break your tailbone. Instead, most injuries cause bruises or pulled ligaments. A backward fall onto a hard surface, such as slipping on ice, is the most common cause of such injuries. Symptoms of various tailbone disorders include pain in the tailbone area, pain upon sitting, pain or numbness in the arms or legs due to pressure on nerves in the tailbone area, and a mass or growth you can see or feel.",MPlusHealthTopics,Tailbone Disorders +What is (are) Mitral Valve Prolapse ?,"Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are ""floppy"" and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause - Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) - Shortness of breath - Cough - Fatigue, dizziness, or anxiety - Migraine headaches - Chest discomfort Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Mitral Valve Prolapse +What is (are) Motion Sickness ?,"Motion sickness is a common problem in people traveling by car, train, airplanes and especially boats. Motion sickness can start suddenly, with a queasy feeling and cold sweats. It can then lead to dizziness and nausea and vomiting. Your brain senses movement by getting signals from your inner ears, eyes, muscles and joints. When it gets signals that do not match, you can get motion sickness. For example, down below on a boat, your inner ear senses motion, but your eyes cannot tell you are moving. Where you sit can make a difference. The front seat of a car, forward cars of a train, upper deck on a boat or wing seats in a plane may give you a smoother ride. Looking out into the distance - instead of trying to read or look at something in the vehicle - can also help. Centers for Disease Control and Prevention",MPlusHealthTopics,Motion Sickness +What is (are) Spinal Stenosis ?,"Your spine, or backbone, protects your spinal cord and allows you to stand and bend. Spinal stenosis causes narrowing in your spine. The narrowing puts pressure on your nerves and spinal cord and can cause pain. Spinal stenosis occurs mostly in people older than 50. Younger people with a spine injury or a narrow spinal canal are also at risk. Diseases such as arthritis and scoliosis can cause spinal stenosis, too. Symptoms might appear gradually or not at all. They include - Pain in your neck or back - Numbness, weakness, cramping, or pain in your arms or legs - Pain going down the leg - Foot problems Doctors diagnose spinal stenosis with a physical exam and imaging tests. Treatments include medications, physical therapy, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Spinal Stenosis +Do you have information about Motor Vehicle Safety,"Summary : Every year thousands of people in the U.S. die from motor vehicle crashes. Trying to prevent these crashes is one part of motor vehicle safety. Here are some things you can do to be safer on the road: - Make sure your vehicle is safe and in working order - Use car seats for children - Wear your seat belt - Don't speed or drive aggressively - Don't drive impaired Safety also involves being aware of others. Share the road with bicycles and motorcycles, and watch for pedestrians.",MPlusHealthTopics,Motor Vehicle Safety +Do you have information about Healthy Aging,"Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age: - Eat a balanced diet - Keep your mind and body active - Don't smoke - Get regular checkups - Practice safety habits to avoid accidents and prevent falls NIH: National Institute on Aging",MPlusHealthTopics,Healthy Aging +Do you have information about Colonoscopy,"Summary : Colonoscopy and sigmoidoscopy are procedures that let your doctor look inside your large intestine. They use instruments called scopes. Scopes have a tiny camera attached to a long, thin tube. The procedures let your doctor see things such as inflamed tissue, abnormal growths, and ulcers. Colonoscopy checks your entire colon and rectum. Sigmoidoscopy checks the rectum and the lower colon only. Your doctor may recommend one of these procedures - To look for early signs of cancer in the colon and rectum. It may be part of a routine screening, which usually starts at age 50. - To look for causes of unexplained changes in bowel habits - To evaluate symptoms like abdominal pain, rectal bleeding, and weight loss Your doctor can also remove polyps from your colon during these procedures. You will get written bowel prep instructions to follow at home before the procedure. The bowel prep cleans out the intestine so your doctor can see everything clearly. During a colonoscopy, you get medicines to keep you relaxed. You usually do not need them for a sigmoidoscopy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Colonoscopy +What is (are) Ovarian Cysts ?,"A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts. A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Ovarian Cysts +Do you have information about Mercury,"Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in glass thermometers, silver dental fillings, and button batteries. Mercury salts may be used in skin creams and ointments. It's also used in many industries. Mercury in the air settles into water. It can pass through the food chain and build up in fish, shellfish, and animals that eat fish. The nervous system is sensitive to all forms of mercury. Exposure to high levels can damage the brain and kidneys. Pregnant women can pass the mercury in their bodies to their babies. It is important to protect your family from mercury exposure: - Carefully handle and dispose of products that contain mercury - Limit your consumption of fish with higher levels of mercury Agency for Toxic Substances and Disease Registry",MPlusHealthTopics,Mercury +What is (are) Phobias ?,"A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger. There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. If you become anxious and extremely self-conscious in everyday social situations, you could have a social phobia. Other common phobias involve tunnels, highway driving, water, flying, animals and blood. People with phobias try to avoid what they are afraid of. If they cannot, they may experience - Panic and fear - Rapid heartbeat - Shortness of breath - Trembling - A strong desire to get away Phobias usually start in children or teens, and continue into adulthood. The causes of specific phobias are not known, but they sometimes run in families. Treatment helps most people with phobias. Options include medicines, therapy or both. NIH: National Institute of Mental Health",MPlusHealthTopics,Phobias +What is (are) Diarrhea ?,"Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diarrhea +Do you have information about Cochlear Implants,"Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. A second part is surgically placed under the skin. An implant does not restore normal hearing. It can help a person understand speech. Children and adults can benefit from them. National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Cochlear Implants +Do you have information about Nutrition for Seniors,"Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might need less energy. But you still need just as many of the nutrients in food. To get them - Choose a variety of healthy foods - Avoid empty calories, which are foods with lots of calories but few nutrients, such as chips, cookies, soda and alcohol - Pick foods that are low in cholesterol and fat, especially saturated and trans fats Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines and shortenings. NIH: National Institute on Aging",MPlusHealthTopics,Nutrition for Seniors +What is (are) Infectious Arthritis ?,"Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Infectious arthritis is an infection in the joint. The infection comes from a bacterial, viral, or fungal infection that spreads from another part of the body. Symptoms of infectious arthritis include - Intense pain in the joint - Joint redness and swelling - Chills and fever - Inability to move the area with the infected joint One type of infectious arthritis is reactive arthritis. The reaction is to an infection somewhere else in your body. The joint is usually the knee, ankle, or toe. Sometimes, reactive arthritis is set off by an infection in the bladder, or in the urethra, which carries urine out of the body. In women, an infection in the vagina can cause the reaction. For both men and women, it can start with bacteria passed on during sex. Another form of reactive arthritis starts with eating food or handling something that has bacteria on it. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.",MPlusHealthTopics,Infectious Arthritis +What is (are) Breast Cancer ?,"Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include - Age - the chance of getting breast cancer rises as a woman gets older - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested. - Personal factors - beginning periods before age 12 or going through menopause after age 55 Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. Men can have breast cancer, too, but the number of cases is small. NIH: National Cancer Institute",MPlusHealthTopics,Breast Cancer +What is (are) Malnutrition ?,"Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include: - Lack of specific nutrients in your diet. Even the lack of one vitamin can lead to malnutrition. - An unbalanced diet - Certain medical problems, such as malabsorption syndromes and cancers Symptoms may include fatigue, dizziness, and weight loss. Or, you may have no symptoms. To diagnose the cause of the problem, your doctor may do blood tests and a nutritional assessment. Treatment may include replacing the missing nutrients and treating the underlying cause.",MPlusHealthTopics,Malnutrition +What is (are) Food Allergy ?,"Food allergy is an abnormal response to a food triggered by your body's immune system. In adults, the foods that most often trigger allergic reactions include fish, shellfish, peanuts, and tree nuts, such as walnuts. Problem foods for children can include eggs, milk, peanuts, tree nuts, soy, and wheat. The allergic reaction may be mild. In rare cases it can cause a severe reaction called anaphylaxis. Symptoms of food allergy include - Itching or swelling in your mouth - Vomiting, diarrhea, or abdominal cramps and pain - Hives or eczema - Tightening of the throat and trouble breathing - Drop in blood pressure Your health care provider may use a detailed history, elimination diet, and skin and blood tests to diagnose a food allergy. When you have food allergies, you must be prepared to treat an accidental exposure. Wear a medical alert bracelet or necklace, and carry an auto-injector device containing epinephrine (adrenaline). You can only prevent the symptoms of food allergy by avoiding the food. After you and your health care provider have identified the foods to which you are sensitive, you must remove them from your diet. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Food Allergy +What is (are) Tinnitus ?,"Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include - Hearing loss in older people - Exposure to loud noises - Ear and sinus infections - Heart or blood vessel problems - Meniere's disease - Brain tumors - Hormonal changes in women - Thyroid problems - Certain medicines Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Tinnitus +Do you have information about B Vitamins,"Summary : The B vitamins are - B1 (thiamine) - B2 (riboflavin) - B3 (niacin) - B5 (pantothenic acid) - B6 - B7 (biotin) - B12 - Folic acid These vitamins help the process your body uses to get or make energy from the food you eat. They also help form red blood cells. You can get B vitamins from proteins such as fish, poultry, meat, eggs, and dairy products. Leafy green vegetables, beans, and peas also have B vitamins. Many cereals and some breads have added B vitamins. Not getting enough of certain B vitamins can cause diseases. A lack of B12 or B6 can cause anemia.",MPlusHealthTopics,B Vitamins +Do you have information about Pain Relievers,"Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. Each person may also have a slightly different response to a pain reliever. Over-the-counter (OTC) medicines are good for many types of pain. There are two main types of OTC pain medicines: acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs (NSAIDs). Aspirin, naproxen (Aleve), and ibuprofen (Advil, Motrin) are examples of OTC NSAIDs. If OTC medicines don't relieve your pain, your doctor may prescribe something stronger. Many NSAIDs are also available at higher prescription doses. The most powerful pain relievers are narcotics. They are very effective, but they can sometimes have serious side effects. Because of the risks, you must use them only under a doctor's supervision. There are many things you can do to help ease pain. Pain relievers are just one part of a pain treatment plan.",MPlusHealthTopics,Pain Relievers +What is (are) Leg Injuries and Disorders ?,"Your legs are made up of bones, blood vessels, muscles, and other connective tissue. They are important for motion and standing. Playing sports, running, falling, or having an accident can damage your legs. Common leg injuries include sprains and strains, joint dislocations, and fractures. These injuries can affect the entire leg, or just the foot, ankle, knee, or hip. Certain diseases also lead to leg problems. For example, knee osteoarthritis, common in older people, can cause pain and limited motion. Problems in your veins in your legs can lead to varicose veins or deep vein thrombosis.",MPlusHealthTopics,Leg Injuries and Disorders +What is (are) Uterine Cancer ?,"The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a women is pregnant. There are different types of uterine cancer. The most common type starts in the endometrium, the lining of the uterus. This type of cancer is sometimes called endometrial cancer. The symptoms of uterine cancer include - Unusual vaginal bleeding or discharge - Trouble urinating - Pelvic pain - Pain during intercourse Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation. NIH: National Cancer Institute",MPlusHealthTopics,Uterine Cancer +What is (are) Hemorrhoids ?,"Hemorrhoids are swollen, inflamed veins around the anus or lower rectum. They are either inside the anus or under the skin around the anus. They often result from straining to have a bowel movement. Other factors include pregnancy, aging and chronic constipation or diarrhea. Hemorrhoids are very common in both men and women. About half of all people have hemorrhoids by age 50. The most common symptom of hemorrhoids inside the anus is bright red blood covering the stool, on toilet paper or in the toilet bowl. Symptoms usually go away within a few days. If you have rectal bleeding you should see a doctor. You need to make sure bleeding is not from a more serious condition such as colorectal or anal cancer. Treatment may include warm baths and a cream or other medicine. If you have large hemorrhoids, you may need surgery and other treatments. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hemorrhoids +What is (are) Wilson Disease ?,"Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper. With early detection and proper treatment, you can enjoy good health. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Wilson Disease +What is (are) Tick Bites ?,"If you spend time outdoors or have pets that go outdoors, you need to beware of ticks. Ticks are small bloodsucking parasites. Many species transmit diseases to animals and people. Some of the diseases you can get from a tick bite are Lyme disease, ehrlichiosis, Rocky Mountain spotted fever and tularemia. Some ticks are so small that they can be difficult to see. Ticks may get on you if you walk through areas where they live, such as tall grass, leaf litter or shrubs. Tick-borne diseases occur worldwide, including in your own backyard. To help protect yourself and your family, you should - Use a chemical repellent with DEET, permethrin or picaridin - Wear light-colored protective clothing - Tuck pant legs into socks - Avoid tick-infested areas - Check yourself, your children and your pets daily for ticks and carefully remove any ticks you find",MPlusHealthTopics,Tick Bites +What is (are) Speech and Language Problems in Children ?,"Children vary in their development of speech and language skills. Health professionals have milestones for what's normal. These milestones help determine if a child is on track or if he or she may need extra help. For example, a child usually has one or two words like ""Hi,"" ""dog,"" ""Dada,"" or ""Mama"" by her first birthday. Sometimes a delay may be caused by hearing loss, while other times it may be due to a speech or language disorder. Language disorders can mean that the child has trouble understanding what others say or difficulty sharing her thoughts. Children who have trouble producing speech sounds correctly or who hesitate or stutter when talking may have a speech disorder. If your child's speech or language appears to be delayed, talk to your child's doctor. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Speech and Language Problems in Children +Do you have information about Chiropractic,"Summary : Chiropractic is a health care profession. Chiropractors perform adjustments (manipulations) to the spine or other parts of the body. The goal is to correct alignment problems, ease pain, and support the body's natural ability to heal itself. They may also use other treatments including - Heat and ice - Electrical stimulation - Relaxation techniques - Rehabilitative and general exercise - Counseling about diet, weight loss, and other lifestyle factors - Dietary supplements Many people visit chiropractors for treatment of low back pain, neck pain, and headaches. NIH: National Center for Complementary and Integrative Health",MPlusHealthTopics,Chiropractic +Do you have information about Safety,"Summary : You can't remove all the safety hazards from your life, but you can reduce them. To avoid many major hazards and prepare for emergencies - Keep emergency phone numbers by your telephones - Make a first aid kit for your home - Make a family emergency plan - Install and maintain smoke alarms and carbon monoxide detectors - Keep guns unloaded and locked up. Lock up the ammunition separately. - Follow the directions carefully when using tools or equipment Young children are especially at risk. Supervision is the best way to keep them safe. Childproofing the house can also help.",MPlusHealthTopics,Safety +Do you have information about Secondhand Smoke,"Summary : Secondhand smoke is a mixture of the smoke that comes from the burning end of a cigarette, cigar, or pipe, and the smoke breathed out by the smoker. It contains more than 7,000 chemicals. Hundreds of those chemicals are toxic and about 70 can cause cancer. Health effects of secondhand smoke include - Ear infections in children - More frequent and severe asthma attacks in children - Heart disease and lung cancer in adults who have never smoked There is no safe amount of secondhand smoke. Even low levels of it can be harmful. The only way to fully protect nonsmokers from secondhand smoke is not to allow smoking indoors. Centers for Disease Control and Prevention",MPlusHealthTopics,Secondhand Smoke +Do you have information about Diets,"Summary : Your diet is made up of what you eat. A healthy diet - May include fruits, vegetables, whole grains, and fat-free or low-fat milk and milk products - May include lean meats, poultry, fish, beans, eggs and nuts - Goes easy on saturated fats, trans fat, cholesterol, salt (sodium), and added sugars There are many different types of diets. Some, like a vegetarian diet, don't include meats. Others, like the Mediterranean diet, describe a traditional way of eating of a specific region. And there are diets for people with certain health problems, such as diabetes and high blood pressure. Many people follow specific diets to lose weight. Some of these diets are fad or crash diets that severely restrict calories or the types of food you are allowed to eat. These diets rarely lead to permanent weight loss and often don't provide all of the nutrients your body needs. To lose weight, you need to use more calories than you eat. Portion control is the key. When trying to lose weight, you can still eat your favorite foods -- as long as you pay attention to the total number of calories that you eat. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diets +What is (are) Diabetic Eye Problems ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your eyes. The most common problem is diabetic retinopathy. It is a leading cause of blindness in American adults. Your retina is the light-sensitive tissue at the back of your eye. You need a healthy retina to see clearly. Diabetic retinopathy damages the tiny blood vessels inside your retina. You may not notice it at first. Symptoms can include - Blurry or double vision - Rings, flashing lights, or blank spots - Dark or floating spots - Pain or pressure in one or both of your eyes - Trouble seeing things out of the corners of your eyes Treatment often includes laser treatment or surgery, with follow-up care. Two other eye problems can happen to people with diabetes. A cataract is a cloud over the lens of your eye. Surgery helps you see clearly again. Glaucoma happens when pressure builds up in the eye, damaging the main nerve. Eye drops or surgery can help. If you have diabetes, you should have a complete eye exam every year. Finding and treating problems early may save your vision. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Eye Problems +"What is (are) Poison Ivy, Oak and Sumac ?","If you spend time outdoors, chances are you have been bothered by poison ivy, poison oak or poison sumac at some point. Most people are sensitive to the plants' oily sap. The sap is in the root, stems, leaves and fruit of these plants. If it gets on your skin, it causes a blistering skin rash. The rash can range from mild to severe, depending on how much sap gets on your skin and how sensitive you are to it. Problems can also happen if the plants are burned. Airborne sap-coated soot can get into the eyes, nose, throat and respiratory system. The best way to avoid the rash is to learn what the plants look like and stay away from them. If you come into contact with the plants, wash your skin and clothing right away. If you develop a rash, ask your pharmacist about over-the-counter medicines. For severe rashes, see your doctor. National Park Service",MPlusHealthTopics,"Poison Ivy, Oak and Sumac" +What is (are) Animal Bites ?,"Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems. To prevent animal bites and complications from bites - Never pet, handle, or feed unknown animals - Leave snakes alone - Watch your children closely around animals - Vaccinate your cats, ferrets, and dogs against rabies - Spay or neuter your dog to make it less aggressive - Get a tetanus booster if you have not had one recently - Wear boots and long pants when you are in areas with venomous snakes If an animal bites you, clean the wound with soap and water as soon as possible. Get medical attention if necessary. Centers for Disease Control and Prevention",MPlusHealthTopics,Animal Bites +Do you have information about Mammography,"Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. It can help reduce the number of deaths from breast cancer among women ages 40 to 70. But it can also have drawbacks. Mammograms can sometimes find something that looks abnormal but isn't cancer. This leads to further testing and can cause you anxiety. Sometimes mammograms can miss cancer when it is there. It also exposes you to radiation. You should talk to your doctor about the benefits and drawbacks of mammograms. Together, you can decide when to start and how often to have a mammogram. Mammograms are also recommended for younger women who have symptoms of breast cancer or who have a high risk of the disease. When you have a mammogram, you stand in front of an x-ray machine. The person who takes the x-rays places your breast between two plastic plates. The plates press your breast and make it flat. This may be uncomfortable, but it helps get a clear picture. You should get a written report of your mammogram results within 30 days. NIH: National Cancer Institute",MPlusHealthTopics,Mammography +Do you have information about Health Screening,"Summary : Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier to treat. You can get some screenings in your doctor's office. Others need special equipment, so you may need to go to a different office or clinic. Some conditions that doctors commonly screen for include - Breast cancer and cervical cancer in women - Colorectal cancer - Diabetes - High blood pressure - High cholesterol - Osteoporosis - Overweight and obesity - Prostate cancer in men Which tests you need depends on your age, your sex, your family history, and whether you have risk factors for certain diseases. After a screening test, ask when you will get the results and whom to talk to about them. Agency for Healthcare Research and Quality",MPlusHealthTopics,Health Screening +What is (are) Acoustic Neuroma ?,"An acoustic neuroma is a benign tumor that develops on the nerve that connects the ear to the brain. The tumor usually grows slowly. As it grows, it presses against the hearing and balance nerves. At first, you may have no symptoms or mild symptoms. They can include - Loss of hearing on one side - Ringing in ears - Dizziness and balance problems The tumor can also eventually cause numbness or paralysis of the face. If it grows large enough, it can press against the brain, becoming life-threatening. Acoustic neuroma can be difficult to diagnose, because the symptoms are similar to those of middle ear problems. Ear exams, hearing tests, and scans can show if you have it. If the tumor stays small, you may only need to have it checked regularly. If you do need treatment, surgery and radiation are options. If the tumors affect both hearing nerves, it is often because of a genetic disorder called neurofibromatosis. NIH: National Institute on Deafness and Communication Disorders",MPlusHealthTopics,Acoustic Neuroma +What is (are) Arm Injuries and Disorders ?,"Of the 206 bones in your body, 3 of them are in your arm; the humerus, radius and ulna. Your arms are also made up of muscles, joints, tendons and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall or an accident. Types of arm injuries include - Tendinitis and bursitis - Sprains - Dislocations - Broken bones Some nerve problems, arthritis, or cancers can affect the entire arm and cause pain, spasms, swelling and trouble moving. You may also have problems or injure specific parts of your arm, such as your hand, wrist, elbow or shoulder.",MPlusHealthTopics,Arm Injuries and Disorders +Do you have information about Vegetarian Diet,"Summary : A vegetarian diet focuses on plants for food. These include fruits, vegetables, dried beans and peas, grains, seeds and nuts. There is no single type of vegetarian diet. Instead, vegetarian eating patterns usually fall into the following groups: - The vegan diet, which excludes all meat and animal products - The lacto vegetarian diet, which includes plant foods plus dairy products - The lacto-ovo vegetarian diet, which includes both dairy products and eggs People who follow vegetarian diets can get all the nutrients they need. However, they must be careful to eat a wide variety of foods to meet their nutritional needs. Nutrients vegetarians may need to focus on include protein, iron, calcium, zinc and vitamin B12. United States Department of Agriculture",MPlusHealthTopics,Vegetarian Diet +What is (are) Small Intestine Disorders ?,"Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum. Problems with the small intestine can include: - Bleeding - Celiac disease - Crohn's disease - Infections - Intestinal cancer - Intestinal obstruction - Irritable bowel syndrome - Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.",MPlusHealthTopics,Small Intestine Disorders +Do you have information about Asian American Health,"Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Asian Americans.",MPlusHealthTopics,Asian American Health +What is (are) Urinary Tract Infections ?,"The urinary system is the body's drainage system for removing wastes and extra water. It includes two kidneys, two ureters, a bladder, and a urethra. Urinary tract infections (UTIs) are the second most common type of infection in the body. You may have a UTI if you notice - Pain or burning when you urinate - Fever, tiredness, or shakiness - An urge to urinate often - Pressure in your lower belly - Urine that smells bad or looks cloudy or reddish - Pain in your back or side below the ribs People of any age or sex can get UTIs. But about four times as many women get UTIs as men. You're also at higher risk if you have diabetes, need a tube to drain your bladder, or have a spinal cord injury. If you think you have a UTI it is important to see your doctor. Your doctor can tell if you have a UTI with a urine test. Treatment is with antibiotics. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Urinary Tract Infections +What is (are) Asthma ?,"Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include - Wheezing - Coughing, especially early in the morning or at night - Chest tightness - Shortness of breath Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Asthma +What is (are) Sleep Disorders ?,"Is it hard for you to fall asleep or stay asleep through the night? Do you wake up feeling tired or feel very sleepy during the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are - Insomnia - a hard time falling or staying asleep - Sleep apnea - breathing interruptions during sleep - Restless legs syndrome - a tingling or prickly sensation in the legs - Narcolepsy - daytime ""sleep attacks"" Nightmares, night terrors, sleepwalking, sleep talking, head banging, wetting the bed and grinding your teeth are kinds of sleep problems called parasomnias. There are treatments for most sleep disorders. Sometimes just having regular sleep habits can help.",MPlusHealthTopics,Sleep Disorders +What is (are) Turner Syndrome ?,"Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are - Short, ""webbed"" neck with folds of skin from tops of shoulders to sides of neck - Low hairline in the back - Low-set ears - Swollen hands and feet Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Turner Syndrome +What is (are) Shock ?,"Shock happens when not enough blood and oxygen can get to your organs and tissues. It causes very low blood pressure and may be life threatening. It often happens along with a serious injury. There are several kinds of shock. Hypovolemic shock happens when you lose a lot of blood or fluids. Causes include internal or external bleeding, dehydration, burns, and severe vomiting and/or diarrhea. Septic shock is caused by infections in the bloodstream. A severe allergic reaction can cause anaphylactic shock. An insect bite or sting might cause it. Cardiogenic shock happens when the heart cannot pump blood effectively. This may happen after a heart attack. Neurogenic shock is caused by damage to the nervous system. Symptoms of shock include - Confusion or lack of alertness - Loss of consciousness - Sudden and ongoing rapid heartbeat - Sweating - Pale skin - A weak pulse - Rapid breathing - Decreased or no urine output - Cool hands and feet Shock is a life-threatening medical emergency and it is important to get help right away. Treatment of shock depends on the cause. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Shock +Do you have information about Artificial Limbs,"Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. - Traumatic injuries, including from traffic accidents and military combat - Cancer - Birth defects If you are missing an arm or leg, an artificial limb can sometimes replace it. The device, which is called a prosthesis, can help you to perform daily activities such as walking, eating, or dressing. Some artificial limbs let you function nearly as well as before.",MPlusHealthTopics,Artificial Limbs +Do you have information about Diabetic Diet,"Summary : If you have diabetes, your body cannot make or properly use insulin. This leads to high blood glucose, or blood sugar, levels. Healthy eating helps keep your blood sugar in your target range. It is a critical part of managing your diabetes, because controlling your blood sugar can prevent the complications of diabetes. A registered dietitian can help make an eating plan just for you. It should take into account your weight, medicines, lifestyle, and other health problems you have. Healthy diabetic eating includes - Limiting foods that are high in sugar - Eating smaller portions, spread out over the day - Being careful about when and how many carbohydrates you eat - Eating a variety of whole-grain foods, fruits and vegetables every day - Eating less fat - Limiting your use of alcohol - Using less salt NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Diet +Do you have information about Pesticides,"Summary : Pests live where they are not wanted or cause harm to crops, people, or animals. Pesticides can help get rid of them. Pesticides are not just insect killers. They also include chemicals to control weeds, rodents, mildew, germs, and more. Many household products contain pesticides. Pesticides can protect your health by killing germs, animals, or plants that could hurt you. However, they can also be harmful to people or pets. You might want to try non-chemical methods first. If you do need a pesticide, use it correctly. Be especially careful around children and pets. Proper disposal of pesticides is also important - it can help protect the environment. Biologically-based pesticides are becoming more popular. They often are safer than traditional pesticides. Environmental Protection Agency",MPlusHealthTopics,Pesticides +What is (are) Hidradenitis Suppurativa ?,"Hidradenitis suppurativa (HS) is a chronic skin disease. It can occur in one or multiple areas of your body. HS usually develops in your armpits, groin, and anal area. It causes long-term skin inflammation and can be painful. Symptoms include - Blackheads and red, tender bumps, called abscesses. The abscesses get bigger, break open, and leak pus - Tunnels that form under the skin between abscesses - Scarring No one knows what causes HS. It is more common in women, African Americans, and people who have had acne. It usually starts after the teenage years. Treatments include antibiotics, anti-inflammatory medicines, and sometimes surgery. Losing weight or wearing looser clothing may help some patients avoid skin irritation.",MPlusHealthTopics,Hidradenitis Suppurativa +Do you have information about Antidepressants,"Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what works best for you. Antidepressants may cause mild side effects that usually do not last long. These may include headache, nausea, sleep problems, restlessness, and sexual problems. Tell your doctor if you have any side effects. You should also let your doctor know if you take any other medicines, vitamins, or herbal supplements. It is important to keep taking your medicines, even if you feel better. Do not stop taking your medicines without talking to your doctor. You often need to stop antidepressants gradually. NIH: National Institute of Mental Health",MPlusHealthTopics,Antidepressants +What is (are) Restless Legs ?,"Restless legs syndrome (RLS) causes a powerful urge to move your legs. Your legs become uncomfortable when you are lying down or sitting. Some people describe it as a creeping, crawling, tingling, or burning sensation. Moving makes your legs feel better, but not for long. RLS can make it hard to fall asleep and stay asleep. In most cases, there is no known cause for RLS. In other cases, RLS is caused by a disease or condition, such as anemia or pregnancy. Some medicines can also cause temporary RLS. Caffeine, tobacco, and alcohol may make symptoms worse. Lifestyle changes, such as regular sleep habits, relaxation techniques, and moderate exercise during the day can help. If those don't work, medicines may reduce the symptoms of RLS. Most people with RLS also have a condition called periodic limb movement disorder (PLMD). PLMD is a condition in which a person's legs twitch or jerk uncontrollably, usually during sleep. PLMD and RLS can also affect the arms. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Restless Legs +What is (are) Eosinophilic Disorders ?,"Eosinophils are a type of white blood cell. They help fight off infections and play a role in your body's immune response. They can also build up and cause inflammation. Normally your blood doesn't have a large number of eosinophils. Your body may produce more of them in response to - Allergic disorders - Skin conditions - Parasitic and fungal infections - Autoimmune diseases - Some cancers - Bone marrow disorders In some conditions, the eosinophils can move outside the bloodstream and build up in organs and tissues. Treatment of the problem depends on the cause.",MPlusHealthTopics,Eosinophilic Disorders +What is (are) Wilms Tumor ?,"Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight. Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor. Doctors usually diagnose and remove the tumor in surgery. Other treatments include chemotherapy and radiation and biologic therapies. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute",MPlusHealthTopics,Wilms Tumor +Do you have information about Hazardous Waste,"Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thinner. U.S. residents generate 1.6 million tons of household hazardous waste per year. Hazardous waste is also a by-product of manufacturing. You may have hazardous wastes in your basement or garage. How do you get rid of them? Don't pour them down the drain, flush them, or put them in the garbage. See if you can donate or recycle. Many communities have household hazardous waste collection programs. Check to see if there is one in your area. Environmental Protection Agency",MPlusHealthTopics,Hazardous Waste +Do you have information about Botox,"Summary : Botox is a drug made from a toxin produced by the bacterium Clostridium botulinum. It's the same toxin that causes a life-threatening type of food poisoning called botulism. Doctors use it in small doses to treat health problems, including - Temporary smoothing of facial wrinkles and improving your appearance - Severe underarm sweating - Cervical dystonia - a neurological disorder that causes severe neck and shoulder muscle contractions - Blepharospasm - uncontrollable blinking - Strabismus - misaligned eyes - Chronic migraine - Overactive bladder Botox injections work by weakening or paralyzing certain muscles or by blocking certain nerves. The effects last about three to twelve months, depending on what you are treating. The most common side effects are pain, swelling, or bruising at the injection site. You could also have flu-like symptoms, headache, and upset stomach. Injections in the face may also cause temporary drooping eyelids. You should not use Botox if you are pregnant or breastfeeding.",MPlusHealthTopics,Botox +Do you have information about Medication Errors,"Summary : Medicines cure infectious diseases, prevent problems from chronic diseases, and ease pain. But medicines can also cause harmful reactions if not used correctly. Errors can happen in the hospital, at the doctor's office, at the pharmacy, or at home. You can help prevent errors by - Knowing your medicines. Keep a list of the names of your medicines, how much you take, and when you take them. Include over-the-counter medicines, vitamins, and supplements and herbs. Take this list to all your doctor visits. - Reading medicine labels and following the directions. Don't take medications prescribed for someone else. - Taking extra caution when giving medicines to children. - Asking questions. If you don't know the answers to these questions, ask your doctor or pharmacist. - Why am I taking this medicine? - What are the common problems to watch out for? - What should I do if they occur? - When should I stop this medicine? - Can I take this medicine with the other medicines on my list? Centers for Disease Control and Prevention",MPlusHealthTopics,Medication Errors +What is (are) Moles ?,"Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pink, tan or brown. They can be flat or raised. They are usually round or oval and no larger than a pencil eraser. About one out of every ten people has at least one unusual (or atypical) mole that looks different from an ordinary mole. They are called dysplastic nevi. They may be more likely than ordinary moles to develop into melanoma, a type of skin cancer. You should have a health care professional check your moles if they look unusual, grow larger, change in color or outline, or in any other way. NIH: National Cancer Institute",MPlusHealthTopics,Moles +What is (are) Swallowing Disorders ?,"If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including - Nervous system disorders, such as Parkinson's disease and cerebral palsy - Problems with your esophagus, including GERD (gastroesophageal reflux disease) - Stroke - Head or spinal cord injury - Cancer of the head, neck, or esophagus Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Swallowing Disorders +Do you have information about Tonsils and Adenoids,"Summary : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose. Sometimes your tonsils and adenoids become infected. Tonsillitis makes your tonsils sore and swollen and causes a sore throat. Enlarged adenoids can be sore, make it hard to breathe and cause ear problems. The first treatment for infected tonsils and adenoids is antibiotics. If you have frequent infections or trouble breathing, you may need surgery. Surgery to remove the tonsils is tonsillectomy. Surgery to remove adenoids is adenoidectomy.",MPlusHealthTopics,Tonsils and Adenoids +What is (are) Compulsive Gambling ?,"Many people enjoy gambling, whether it's betting on a horse or playing poker on the Internet. Most people who gamble don't have a problem, but some lose control of their gambling. Signs of problem gambling include - Always thinking about gambling - Lying about gambling - Spending work or family time gambling - Feeling bad after you gamble, but not quitting - Gambling with money you need for other things If you have concerns about your gambling, ask for help. Your health care provider can work with you to find the treatment that's best for you. NIH: National Institutes of Health",MPlusHealthTopics,Compulsive Gambling +What is (are) Coping with Chronic Illness ?,"Having a long-term, or chronic, illness can disrupt your life in many ways. You may often be tired and in pain. Your illness might affect your appearance or your physical abilities and independence. You may not be able to work, causing financial problems. For children, chronic illnesses can be frightening, because they may not understand why this is happening to them. These changes can cause stress, anxiety and anger. If they do, it is important to seek help. A trained counselor can help you develop strategies to regain a feeling of control. Support groups might help, too. You will find that you are not alone, and you may learn some new tips on how to cope.",MPlusHealthTopics,Coping with Chronic Illness +Do you have information about Minerals,"Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat. There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. They include calcium, phosphorus, magnesium, sodium, potassium, chloride and sulfur. Your body needs just small amounts of trace minerals. These include iron, manganese, copper, iodine, zinc, cobalt, fluoride and selenium. The best way to get the minerals your body needs is by eating a wide variety of foods. In some cases, your doctor may recommend a mineral supplement.",MPlusHealthTopics,Minerals +What is (are) Botulism ?,"Botulism is a rare but serious illness. The cause is a toxin (poison) made by a bacterium called Clostridium botulinum. It occurs naturally in soil. There are several kinds of botulism. Foodborne botulism comes from eating foods contaminated with the toxin. Wound botulism happens when a wound infected with the bacteria makes the toxin. It is more common in heroin users. Infant botulism happens when a baby consumes the spores of the bacteria from soil or honey. All forms can be deadly and are medical emergencies. Symptoms include double or blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Treatment may include antitoxins, intensive medical care, or surgery of infected wounds. To prevent botulism: - Be very careful when canning foods at home - Do not let babies eat honey - Get prompt medical care for infected wounds Centers for Disease Control and Prevention",MPlusHealthTopics,Botulism +What is (are) Hypoglycemia ?,"Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include - Hunger - Shakiness - Dizziness - Confusion - Difficulty speaking - Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hypoglycemia +What is (are) Stuttering ?,"Stuttering is a problem that affects the flow of your speech. If you stutter, you may - Make certain words sound longer than they should be - Find it hard to start a new word - Repeat words or parts of words - Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw may tremble as you struggle to get the words out. Stuttering can affect anyone. It is most common in young children who are still learning to speak. Boys are three times more likely to stutter than girls. Most children stop stuttering as they grow older. Less than 1 percent of adults stutter. Scientists don't fully understand why some people stutter. The problem seems to run in families. There is no cure, but treatments can help. They include stuttering therapy, electronic devices, and self-help groups. Starting stuttering therapy early for young children can keep it from becoming a lifelong problem. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Stuttering +Do you have information about Gun Safety,"Summary : Many U.S. households have guns, but they can cause harm if not handled properly. Here are some things you can do to keep yourself and your family safe: - Teach children that they shouldn't touch guns and that if they see a gun, to leave it alone and tell an adult. - If your children play at another home, talk to the parents about gun safety. - Treat every gun as if it were loaded. - Always store guns unloaded. - Lock guns in a rack or safe, and hide the keys or combination. - Store ammunition away from guns and keep it locked. - Don't keep guns in your home if someone in your family has a mental illness, severe depression, or potential for violence.",MPlusHealthTopics,Gun Safety +What is (are) Movement Disorders ?,"Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.",MPlusHealthTopics,Movement Disorders +What is (are) Crohn's Disease ?,"Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include - Bleeding from the rectum - Weight loss - Fever Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Crohn's Disease +What is (are) Bullying ?,"Bullying is when a person or group repeatedly tries to harm someone who is weaker or who they think is weaker. Sometimes it involves direct attacks such as hitting, name calling, teasing or taunting. Sometimes it is indirect, such as spreading rumors or trying to make others reject someone. Often people dismiss bullying among kids as a normal part of growing up. But bullying is harmful. It can lead children and teenagers to feel tense and afraid. It may lead them to avoid school. In severe cases, teens who are bullied may feel they need to take drastic measures or react violently. Others even consider suicide. For some, the effects of bullying last a lifetime. Centers for Disease Control and Prevention",MPlusHealthTopics,Bullying +What is (are) Diabetes Type 2 ?,"Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include - Being very thirsty - Urinating often - Feeling very hungry or tired - Losing weight without trying - Having sores that heal slowly - Having blurry eyesight Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes Type 2 +What is (are) Hyperglycemia ?,"Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.",MPlusHealthTopics,Hyperglycemia +Do you have information about Native Hawaiian and Pacific Islander Health,"Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Hawaiians and Pacific Islanders.",MPlusHealthTopics,Native Hawaiian and Pacific Islander Health +Do you have information about Acupuncture,"Summary : Acupuncture has been practiced in China and other Asian countries for thousands of years. Acupuncture involves stimulating specific points on the body. This is most often done by inserting thin needles through the skin, to cause a change in the physical functions of the body. Research has shown that acupuncture reduces nausea and vomiting after surgery and chemotherapy. It can also relieve pain. Researchers don't fully understand how acupuncture works. It might aid the activity of your body's pain-killing chemicals. It also might affect how you release chemicals that regulate blood pressure and flow. NIH: National Center for Complementary and Integrative Health",MPlusHealthTopics,Acupuncture +Do you have information about Vitamin D,"Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. Vitamin D also has a role in your nerve, muscle, and immune systems. You can get vitamin D in three ways: through your skin, from your diet, and from supplements. Your body forms vitamin D naturally after exposure to sunlight. However, too much sun exposure can lead to skin aging and skin cancer. So many people try to get their vitamin D from other sources. Vitamin D-rich foods include egg yolks, saltwater fish, and liver. Some other foods, like milk and cereal, often have added vitamin D. You can also take vitamin D supplements. Check with your health care provider to see how much you should take. People who might need extra vitamin D include - Seniors - Breastfed infants - People with dark skin - People with certain conditions, such as liver diseases, cystic fibrosis and Crohn's disease - People who are obese or have had gastric bypass surgery NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Vitamin D +Do you have information about Liver Function Tests,"Summary : Your liver helps your body digest food, store energy, and remove poisons. Liver function tests are blood tests that check to see how well your liver is working. They check for liver damage, and can help diagnose liver diseases such as hepatitis and cirrhosis. You may have liver function tests as part of a regular checkup. Or you may have them if you have symptoms of liver disease. Doctors also use the tests to monitor some liver diseases, treatments, and possible side effects of medicines. Liver function tests measure certain proteins, enzymes, and substances, including: - Albumin, a protein that the liver makes - Total protein (TP) - Enzymes that are found in the liver, including alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT) - Bilirubin, a yellow substance that is part of bile. It is formed when your red blood cells break down. Too much bilirubin in the blood can cause jaundice. There is also a urine test for bilirubin. - Prothrombin time, which measures how long it takes for your blood to clot. Prothrombin is made by the liver.",MPlusHealthTopics,Liver Function Tests +Do you have information about Underage Drinking,"Summary : Alcohol is the most widely abused substance among America's youth. Drinking by young people has big health and safety risks. It is dangerous because it - Causes many deaths and injuries - Can lead to poor decisions about engaging in risky behavior, such as drinking and driving or unprotected sex - Increases the risk of physical and sexual assault - Can lead to other problems, such as trouble in school - May interfere with brain development - Increases the risk of alcohol problems later in life Kids often begin drinking to look ""cool"" or fit in with their peers. Parents can help their kids avoid alcohol problems. Open communication and conversations about drinking are important. So is being involved in your child's life. Get help for your child if you suspect a drinking problem. NIH: National Institute on Alcohol Abuse and Alcoholism",MPlusHealthTopics,Underage Drinking +What is (are) Chiari Malformation ?,"Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include - Neck pain - Balance problems - Numbness or other abnormal feelings in the arms or legs - Dizziness - Vision problems - Difficulty swallowing - Poor hand coordination Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Chiari Malformation +What is (are) Prediabetes ?,"Prediabetes means you have blood glucose, or blood sugar, levels that are higher than normal but not high enough to be called diabetes. Glucose comes from the foods you eat. Too much glucose in your blood can damage your body over time. If you have prediabetes, you are more likely to develop type 2 diabetes, heart disease, and stroke. Most people with prediabetes don't have any symptoms. Your doctor can use an A1C test or another blood test to find out if your blood glucose levels are higher than normal. If you are 45 years old or older, your doctor may recommend that you be tested for prediabetes, especially if you are overweight. Losing weight - at least 5 to 10 percent of your starting weight - can prevent or delay diabetes or even reverse prediabetes. That's 10 to 20 pounds for someone who weighs 200 pounds. You can lose weight by cutting down on the amount of calories and fat you eat and being physically active at least 30 minutes a day. Being physically active makes your body's insulin work better. Your doctor may also prescribe medicine to help control the amount of glucose in your blood. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Prediabetes +What is (are) Lymphedema ?,"Lymphedema is the name of a type of swelling. It happens when lymph builds up in your body's soft tissues. Lymph is a fluid that contains white blood cells that defend against germs. It can build up when the lymph system is damaged or blocked. It usually happens in the arms or legs. Causes of lymphedema include - Infection - Cancer - Scar tissue from radiation therapy or surgical removal of lymph nodes - Inherited conditions in which lymph nodes or vessels are absent or abnormal Treatment can help control symptoms. It includes exercise, compression devices, skin care, and massage. NIH: National Cancer Institute",MPlusHealthTopics,Lymphedema +Do you have information about Dietary Fats,"Summary : Fat is a type of nutrient. You need some fat in your diet but not too much. Fats give you energy and help your body absorb vitamins. Dietary fat also plays a major role in your cholesterol levels. But not all fats are the same. You should try to avoid - Saturated fats such as butter, solid shortening, and lard - Trans fats. These are found in vegetable shortenings, some margarines, crackers, cookies, snack foods, and other foods made with or fried in partially hydrogenated oils (PHOs). By 2018, most U.S. companies will not be allowed to add PHOs to food. Try to replace them with oils such as canola, olive, safflower, sesame, or sunflower. Of course, eating too much fat will put on the pounds. Fat has twice as many calories as proteins or carbohydrates. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Dietary Fats +What is (are) Leukodystrophies ?,"The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with - Movement - Speaking - Vision - Hearing - Mental and physical development Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Leukodystrophies +Do you have information about Biopsy,"Summary : A biopsy is a procedure that removes cells or tissue from your body. A doctor called a pathologist looks at the cells or tissue under a microscope to check for damage or disease. The pathologist may also do other tests on it. Biopsies can be done on all parts of the body. In most cases, a biopsy is the only test that can tell for sure if a suspicious area is cancer. But biopsies are performed for many other reasons too. There are different types of biopsies. A needle biopsy removes tissue with a needle passed through your skin to the site of the problem. Other kinds of biopsies may require surgery.",MPlusHealthTopics,Biopsy +What is (are) Seasonal Affective Disorder ?,"Some people experience a serious mood change during the winter months, when there is less natural sunlight. This condition is called seasonal affective disorder, or SAD. SAD is a type of depression. It usually lifts during spring and summer. Not everyone with SAD has the same symptoms. They include - Sad, anxious or ""empty"" feelings - Feelings of hopelessness and/or pessimism - Feelings of guilt, worthlessness or helplessness - Irritability, restlessness - Loss of interest or pleasure in activities you used to enjoy - Fatigue and decreased energy - Difficulty concentrating, remembering details and making decisions - Difficulty sleeping or oversleeping - Changes in weight - Thoughts of death or suicide SAD may be effectively treated with light therapy. But nearly half of people with SAD do not respond to light therapy alone. Antidepressant medicines and talk therapy can reduce SAD symptoms, either alone or combined with light therapy. NIH: National Institute of Mental Health",MPlusHealthTopics,Seasonal Affective Disorder +Do you have information about Caregivers,"Summary : Caregivers provide help to another person in need. The person receiving care may be an adult - often a parent or a spouse - or a child with special medical needs. Some caregivers are family members. Others are paid. They do many things: - Shop for food and cook - Clean the house - Pay bills - Give medicine - Help the person go to the toilet, bathe and dress - Help the person eat - Provide company and emotional support Caregiving is hard, and caregivers of chronically ill people often feel stress. They are ""on call"" 24 hours a day, 7 days a week. If you're caring for someone with mental problems like Alzheimer's disease it can be especially difficult. Support groups can help. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Caregivers +What is (are) Intestinal Cancer ?,"Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk. Possible signs of small intestine cancer include - Abdominal pain - Weight loss for no reason - Blood in the stool - A lump in the abdomen Imaging tests that create pictures of the small intestine and the area around it can help diagnose intestinal cancer and show whether it has spread. Surgery is the most common treatment. Additional options include chemotherapy, radiation therapy, or a combination. NIH: National Cancer Institute",MPlusHealthTopics,Intestinal Cancer +What is (are) Dystonia ?,"Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Dystonia +What is (are) Macular Degeneration ?,"Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute",MPlusHealthTopics,Macular Degeneration +Do you have information about Pacemakers and Implantable Defibrillators,"Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardioverter defibrillator (ICD). They are devices that are implanted in your chest or abdomen. A pacemaker helps control abnormal heart rhythms. It uses electrical pulses to prompt the heart to beat at a normal rate. It can speed up a slow heart rhythm, control a fast heart rhythm, and coordinate the chambers of the heart. An ICD monitors heart rhythms. If it senses dangerous rhythms, it delivers shocks. This treatment is called defibrillation. An ICD can help control life-threatening arrhythmias, especially those that can cause sudden cardiac arrest (SCA). Most new ICDs can act as both a pacemaker and a defibrillator. Many ICDs also record the heart's electrical patterns when there is an abnormal heartbeat. This can help the doctor plan future treatment. Getting a pacemaker or ICD requires minor surgery. You usually need to stay in the hospital for a day or two, so your doctor can make sure that the device is working well. You will probably be back to your normal activities within a few days.",MPlusHealthTopics,Pacemakers and Implantable Defibrillators +What is (are) Male Infertility ?,"Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include - Physical problems with the testicles - Blockages in the ducts that carry sperm - Hormone problems - A history of high fevers or mumps - Genetic disorders - Lifestyle or environmental factors About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Male Infertility +Do you have information about Medicare Prescription Drug Coverage,"Summary : Part D is the name of Medicare's prescription drug coverage. It's insurance that helps people pay for prescription drugs. It is available to everyone who has Medicare. It provides protection if you pay high drug costs or have unexpected prescription drug bills. It doesn't cover all costs. You have to pay part of the cost of prescription drugs. Most people also have to pay an additional monthly cost. Private companies provide Medicare prescription drug coverage. You choose the drug plan you like best. Whether or not you should sign up depends on how good your current coverage is. You need to sign up as soon as you are eligible for Medicare. Otherwise, there may be additional charges. Centers for Medicare and Medicaid Services",MPlusHealthTopics,Medicare Prescription Drug Coverage +Do you have information about Household Products,"Summary : The products you use for cleaning, carpentry, auto repair, gardening, and many other household uses can contain ingredients that can harm you, your family, and the environment. These include - Oven and drain cleaners - Laundry powder - Floor polish - Paint thinners, strippers and removers - Pesticides - Grease and rust removers - Motor oil and fuel additives - Arts and craft supplies Toxic substances in these products can cause harm if inhaled, swallowed, or absorbed through the skin. People respond to toxic substances in different ways. At high doses a toxic substance might cause birth defects or other serious problems, including brain damage or death. To avoid problems, keep products in the containers they come in and use them exactly as the label says. Follow label directions or get medical help if you swallow, inhale or get them on your skin. Environmental Protection Agency",MPlusHealthTopics,Household Products +What is (are) Floods ?,"Floods are common in the United States. Weather such as heavy rain, thunderstorms, hurricanes, or tsunamis can cause flooding. Flooding can also happen when a river or stream overflows its bank, when a levee is breached, or when a dam breaks. Flash floods, which can develop quickly, often have a dangerous wall of roaring water. The wall carries rocks, mud, and rubble and can sweep away most things in its path. Be aware of flood hazards no matter where you live, but especially if you live in a low-lying area, near water or downstream from a dam. Although there are no guarantees of safety during a flood, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Floods +What is (are) Disabilities ?,"Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assistive devices can make daily tasks easier. About one in every five people in the United States has a disability. Some people are born with one. Others have them as a result of an illness or injury. Some people develop them as they age. Almost all of us will have a disability at some point in our lives. Department of Health and Human Services",MPlusHealthTopics,Disabilities +What is (are) Childhood Brain Tumors ?,"Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood cancers. Some are benign tumors, which aren't cancer. They can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and other symptoms. However, other conditions can also cause the same symptoms. Check with a doctor if your child has any of the following problems: - Morning headache or headache that goes away after vomiting - Frequent nausea and vomiting - Vision, hearing, and speech problems - Loss of balance or trouble walking - Unusual sleepiness - Personality changes - Seizures - Increased head size in infants The symptoms are not the same in every child. Doctors use physical and neurological exams, lab tests, and imaging to diagnose brain tumors. Most childhood brain tumors are diagnosed and removed in surgery. Treatment for children is sometimes different than for an adult. Long-term side effects are an important issue. The options also depend on the type of tumor and where it is. Removal of the tumor is often possible. If not, radiation, chemotherapy, or both may be used. NIH: National Cancer Institute",MPlusHealthTopics,Childhood Brain Tumors +What is (are) Esophagus Disorders ?,"The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong. The most common problem with the esophagus is gastroesophageal reflux disease (GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer. Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.",MPlusHealthTopics,Esophagus Disorders +What is (are) Pulmonary Hypertension ?,"Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include - Shortness of breath during routine activity, such as climbing two flights of stairs - Tiredness - Chest pain - A racing heartbeat - Pain on the upper right side of the abdomen - Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pulmonary Hypertension +Do you have information about Men's Health,"Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. Many of the major health risks that men face - like colon cancer or heart disease - can be prevented and treated with early diagnosis. Screening tests can find diseases early, when they are easier to treat. It's important to get the screening tests you need.",MPlusHealthTopics,Men's Health +What is (are) Chickenpox ?,"Chickenpox is an infection caused by the varicella-zoster virus. Most cases are in children under age 15, but older children and adults can get it. It spreads very easily from one person to another. The classic symptom of chickenpox is an uncomfortable, itchy rash. The rash turns into fluid-filled blisters and eventually into scabs. It usually shows up on the face, chest, and back and then spreads to the rest of the body. Other symptoms include - Fever - Headache - Tiredness - Loss of appetite Chickenpox is usually mild and lasts 5 to 10 days. Calamine lotions and oatmeal baths can help with itching. Acetaminophen can treat the fever. Do not use aspirin for chickenpox; that combination can cause Reye syndrome. Chickenpox can sometimes cause serious problems. Adults, babies, teenagers, pregnant women, and those with weak immune systems tend to get sicker from it. They may need to take antiviral medicines. Once you catch chickenpox, the virus usually stays in your body. You probably will not get chickenpox again, but the virus can cause shingles in adults. A chickenpox vaccine can help prevent most cases of chickenpox, or make it less severe if you do get it. Centers for Disease Control and Prevention",MPlusHealthTopics,Chickenpox +What is (are) Hearing Disorders and Deafness ?,"It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some possibilities are - Heredity - Diseases such as ear infections and meningitis - Trauma - Certain medicines - Long-term exposure to loud noise - Aging There are two main types of hearing loss. One happens when your inner ear or auditory nerve is damaged. This type is usually permanent. The other kind happens when sound waves cannot reach your inner ear. Earwax build-up, fluid, or a punctured eardrum can cause it. Treatment or surgery can often reverse this kind of hearing loss. Untreated, hearing problems can get worse. If you have trouble hearing, you can get help. Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Hearing Disorders and Deafness +What is (are) Knee Replacement ?,"Knee replacement is surgery for people with severe knee damage. Knee replacement can relieve pain and allow you to be more active. Your doctor may recommend it if you have knee pain and medicine and other treatments are not helping you anymore. When you have a total knee replacement, the surgeon removes damaged cartilage and bone from the surface of your knee joint and replaces them with a man-made surface of metal and plastic. In a partial knee replacement, the surgeon only replaces one part of your knee joint. The surgery can cause scarring, blood clots, and, rarely, infections. After a knee replacement, you will no longer be able to do certain activities, such as jogging and high-impact sports.",MPlusHealthTopics,Knee Replacement +Do you have information about Hospice Care,"Summary : Hospice care is end-of-life care. A team of health care professionals and volunteers provides it. They give medical, psychological, and spiritual support. The goal of the care is to help people who are dying have peace, comfort, and dignity. The caregivers try to control pain and other symptoms so a person can remain as alert and comfortable as possible. Hospice programs also provide services to support a patient's family. Usually, a hospice patient is expected to live 6 months or less. Hospice care can take place - At home - At a hospice center - In a hospital - In a skilled nursing facility NIH: National Cancer Institute",MPlusHealthTopics,Hospice Care +Do you have information about Eye Wear,"Summary : Eye wear protects or corrects your vision. Examples are - Sunglasses - Safety goggles - Glasses (also called eyeglasses) - Contact lenses If you need corrective lenses, you may be able to choose between contacts or glasses. Either usually requires a prescription. Almost anyone can wear glasses. Contact lenses require more careful handling. Many jobs and some sports carry a risk of eye injury. Thousands of children and adults get eye injuries every year. Most are preventable with proper eye protection. Everyone is at risk for eye damage from the sun year-round. It's important to regularly use sunglasses that block out at least 99 percent of UV rays.",MPlusHealthTopics,Eye Wear +What is (are) Temporomandibular Joint Dysfunction ?,"The temporomandibular joint (TMJ) connects your jaw to the side of your head. When it works well, it enables you to talk, chew, and yawn. For people with TMJ dysfunction, problems with the joint and muscles around it may cause - Pain that travels through the face, jaw, or neck - Stiff jaw muscles - Limited movement or locking of the jaw - Painful clicking or popping in the jaw - A change in the way the upper and lower teeth fit together Jaw pain may go away with little or no treatment. Treatment may include simple things you can do yourself, such as eating soft foods or applying ice packs. It may also include pain medicines or devices to insert in your mouth. In rare cases, you might need surgery. NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Temporomandibular Joint Dysfunction +Do you have information about Indoor Air Pollution,"Summary : We usually think of air pollution as being outdoors, but the air in your house or office could also be polluted. Sources of indoor pollution include - Mold and pollen - Tobacco smoke - Household products and pesticides - Gases such as radon and carbon monoxide - Materials used in the building such as asbestos, formaldehyde and lead Sometimes a group of people have symptoms that seem to be linked to time spent in a certain building. There may be a specific cause, such as Legionnaire's disease. Sometimes the cause of the illness cannot be found. This is known as sick building syndrome. Usually indoor air quality problems only cause discomfort. Most people feel better as soon as they remove the source of the pollution. However, some pollutants can cause diseases that show up much later, such as respiratory diseases or cancer. Making sure that your building is well-ventilated and getting rid of pollutants can improve the quality of your indoor air. Environmental Protection Agency",MPlusHealthTopics,Indoor Air Pollution +What is (are) Polymyalgia Rheumatica ?,"Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. In some cases, polymyalgia rheumatica develops overnight. In others, it is gradual. The cause is not known. There is no single test to diagnose polymyalgia rheumatica. Your doctor will use your medical history, symptoms, and a physical exam to make the diagnosis. Lab tests for inflammation may help confirm the diagnosis. Polymyalgia rheumatica sometimes occurs along with giant cell arteritis, a condition that causes swelling of the arteries in your head. Symptoms include headaches and blurred vision. Doctors often prescribe prednisone, a steroid medicine, for both conditions. With treatment, polymyalgia rheumatica usually disappears in a day or two. Without treatment, it usually goes away after a year or more. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Polymyalgia Rheumatica +Do you have information about Understanding Medical Research,"Summary : It seems to happen almost every day - you hear about the results of a new medical research study. Sometimes the results of one study seem to disagree with the results of another study. It's important to be critical when reading or listening to reports of new medical findings. Some questions that can help you evaluate health information include: - Was the study in animals or people? - Does the study include people like you? - How big was the study? - Was it a randomized controlled clinical trial? - Where was the research done? - If a new treatment was being tested, were there side effects? - Who paid for the research? - Who is reporting the results? NIH: National Institutes of Health",MPlusHealthTopics,Understanding Medical Research +What is (are) Alcoholism and Alcohol Abuse ?,"For most adults, moderate alcohol use is probably not harmful. However, about 18 million adult Americans have an alcohol use disorder. This means that their drinking causes distress and harm. It includes alcoholism and alcohol abuse. Alcoholism, or alcohol dependence, is a disease that causes - Craving - a strong need to drink - Loss of control - not being able to stop drinking once you've started - Physical dependence - withdrawal symptoms - Tolerance - the need to drink more alcohol to feel the same effect With alcohol abuse, you are not physically dependent, but you still have a serious problem. The drinking may cause problems at home, work, or school. It may cause you to put yourself in dangerous situations, or lead to legal or social problems. Another common problem is binge drinking. It is drinking about five or more drinks in two hours for men. For women, it is about four or more drinks in two hours. Too much alcohol is dangerous. Heavy drinking can increase the risk of certain cancers. It can cause damage to the liver, brain, and other organs. Drinking during pregnancy can harm your baby. Alcohol also increases the risk of death from car crashes, injuries, homicide, and suicide. If you want to stop drinking, there is help. Start by talking to your health care provider. Treatment may include medicines, counseling, and support groups. NIH: National Institute on Alcohol Abuse and Alcoholism",MPlusHealthTopics,Alcoholism and Alcohol Abuse +What is (are) Nausea and Vomiting ?,"Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines. For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration. Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have - Vomited for longer than 24 hours - Blood in the vomit - Severe abdominal pain - Headache and stiff neck - Signs of dehydration, such as dry mouth, infrequent urination or dark urine",MPlusHealthTopics,Nausea and Vomiting +What is (are) Pleural Disorders ?,"Your pleura is a large, thin sheet of tissue that wraps around the outside of your lungs and lines the inside of your chest cavity. Between the layers of the pleura is a very thin space. Normally it's filled with a small amount of fluid. The fluid helps the two layers of the pleura glide smoothly past each other as your lungs breathe air in and out. Disorders of the pleura include - Pleurisy - inflammation of the pleura that causes sharp pain with breathing - Pleural effusion - excess fluid in the pleural space - Pneumothorax - buildup of air or gas in the pleural space - Hemothorax - buildup of blood in the pleural space Many different conditions can cause pleural problems. Viral infection is the most common cause of pleurisy. The most common cause of pleural effusion is congestive heart failure. Lung diseases, like COPD, tuberculosis, and acute lung injury, cause pneumothorax. Injury to the chest is the most common cause of hemothorax. Treatment focuses on removing fluid, air, or blood from the pleural space, relieving symptoms, and treating the underlying condition. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pleural Disorders +Do you have information about Patient Safety,"Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can - Ask questions if you have doubts or concerns. Take a relative or friend to your doctor appointment to help you ask questions and understand answers. - Make sure you understand what will happen if you need surgery - Tell your health care providers about all the medicines you take, including over-the-counter drugs and dietary supplements. Tell them if you have any allergies or bad reactions to anesthesia. Make sure you know how to take your medications correctly. - Get a second opinion about treatment options - Keep a copy of your own health history Agency for Healthcare Research and Quality",MPlusHealthTopics,Patient Safety +Do you have information about Vitamin C,"Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin C is an antioxidant. It is important for your skin, bones, and connective tissue. It promotes healing and helps the body absorb iron. Vitamin C comes from fruits and vegetables. Good sources include citrus, red and green peppers, tomatoes, broccoli, and greens. Some juices and cereals have added vitamin C. Some people may need extra vitamin C: - Pregnant/breastfeeding women - Smokers - People recovering from surgery - Burn victims",MPlusHealthTopics,Vitamin C +What is (are) Poisoning ?,"A poison is any substance that is harmful to your body. You might swallow it, inhale it, inject it, or absorb it through your skin. Any substance can be poisonous if too much is taken. Poisons can include - Prescription or over-the-counter medicines taken in doses that are too high - Overdoses of illegal drugs - Carbon monoxide from gas appliances - Household products, such as laundry powder or furniture polish - Pesticides - Indoor or outdoor plants - Metals such as lead and mercury The effects of poisoning range from short-term illness to brain damage, coma, and death. To prevent poisoning it is important to use and store products exactly as their labels say. Keep dangerous products where children can't get to them. Treatment for poisoning depends on the type of poison. If you suspect someone has been poisoned, call your local poison control center right away.",MPlusHealthTopics,Poisoning +What is (are) Constipation ?,"Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber - Drinking plenty of water and other liquids - Getting enough exercise - Taking time to have a bowel movement when you need to - Using laxatives only if your doctor says you should - Asking your doctor if medicines you take may cause constipation It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Constipation +Do you have information about Cholesterol,"Summary : Cholesterol is a waxy, fat-like substance that occurs naturally in all parts of the body. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can combine with other substances in the blood and stick to the walls of your arteries. This is called plaque. Plaque can narrow your arteries or even block them. High levels of cholesterol in the blood can increase your risk of heart disease. Your cholesterol levels tend to rise as you get older. There are usually no signs or symptoms that you have high blood cholesterol, but it can be detected with a blood test. You are likely to have high cholesterol if members of your family have it, if you are overweight or if you eat a lot of fatty foods. You can lower your cholesterol by exercising more and eating more fruits and vegetables. You also may need to take medicine to lower your cholesterol. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Cholesterol +Do you have information about HIV/AIDS in Women,"Summary : HIV, the human immunodeficiency virus, kills or damages cells of the body's immune system. The most advanced stage of infection with HIV is AIDS, which stands for acquired immunodeficiency syndrome. HIV often spreads through unprotected sex with an infected person. It may also spread by sharing drug needles or through contact with the blood of an infected person. Women can get HIV more easily during vaginal sex than men can. And if they do get HIV, they have unique problems, including: - Complications such as repeated vaginal yeast infections, severe pelvic inflammatory disease (PID), and a higher risk of cervical cancer - Different side effects from the drugs that treat HIV - The risk of giving HIV to their baby while pregnant or during childbirth There is no cure, but there are many medicines to fight both HIV infection and the infections and cancers that come with it. People can live with the disease for many years.",MPlusHealthTopics,HIV/AIDS in Women +What is (are) Carpal Tunnel Syndrome ?,"You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. It contains nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms usually start gradually. As they worsen, grasping objects can become difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. Treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Carpal Tunnel Syndrome +Do you have information about Air Pollution,"Summary : Air pollution is a mixture of solid particles and gases in the air. Car emissions, chemicals from factories, dust, pollen and mold spores may be suspended as particles. Ozone, a gas, is a major part of air pollution in cities. When ozone forms air pollution, it's also called smog. Some air pollutants are poisonous. Inhaling them can increase the chance you'll have health problems. People with heart or lung disease, older adults and children are at greater risk from air pollution. Air pollution isn't just outside - the air inside buildings can also be polluted and affect your health. Environmental Protection Agency",MPlusHealthTopics,Air Pollution +"What is (are) Tetanus, Diphtheria, and Pertussis Vaccines ?","Tetanus, diphtheria, and pertussis (whooping cough) are serious bacterial infections. Tetanus causes painful tightening of the muscles, usually all over the body. It can lead to ""locking"" of the jaw. Diphtheria usually affects the nose and throat. Whooping cough causes uncontrollable coughing. Vaccines can protect you from these diseases. In the U.S., there are four combination vaccines: - DTaP prevents all three diseases. It is for children younger than seven years old. - Tdap also prevents all three. It is for older children and adults. - DT prevents diphtheria and tetanus. It is for children younger than seven who cannot tolerate the pertussis vaccine. - Td prevents diphtheria and tetanus. It is for older children and adults. It is usually given as a booster dose every 10 years. You may also get it earlier if you get a severe and dirty wound or burn. Some people should not get these vaccines, including those who have had severe reactions to the shots before. Check with your doctor first if you have seizures, a neurologic problem, or Guillain-Barre syndrome. Also let your doctor know if you don't feel well the day of the shot; you may need to postpone it. Centers for Disease Control and Prevention",MPlusHealthTopics,"Tetanus, Diphtheria, and Pertussis Vaccines" +What is (are) Dementia ?,"Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Dementia +Do you have information about Alcohol,"Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. For men under 65, it is no more than four drinks a day or 14 drinks per week. Some people should not drink at all, including alcoholics, children, pregnant women, people taking certain medicines, and people with certain medical conditions. If you have questions about whether it is safe for you to drink, speak with your health care provider. Anything more than moderate drinking can be risky. Heavy drinking can lead to alcoholism and alcohol abuse, as well as injuries, liver disease, heart disease, cancer, and other health problems. It can also cause problems at home, at work, and with friends. NIH: National Institute on Alcohol Abuse and Alcoholism",MPlusHealthTopics,Alcohol +What is (are) Polycystic Ovary Syndrome ?,"Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: - Infertility - Pelvic pain - Excess hair growth on the face, chest, stomach, thumbs, or toes - Baldness or thinning hair - Acne, oily skin, or dandruff - Patches of thickened dark brown or black skin Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Polycystic Ovary Syndrome +Do you have information about Pancreas Transplantation,"Summary : The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. A pancreas transplant is surgery to place a healthy pancreas from a donor into a person with a diseased pancreas. It is mostly done for people with severe type 1 diabetes. It can allow them to give up insulin shots. An experimental procedure called islet cell transplantation transplants only the parts of the pancreas that make insulin. People who have transplants must take drugs to keep their body from rejecting the new pancreas for the rest of their lives. They must also have regular follow-up care. Because of the risks, it is not a common treatment for type 1 diabetes.",MPlusHealthTopics,Pancreas Transplantation +What is (are) Anxiety ?,"Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include - Panic disorder - Obsessive-compulsive disorder - Post-traumatic stress disorder - Phobias - Generalized anxiety disorder Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health",MPlusHealthTopics,Anxiety +What is (are) Birth Defects ?,"A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown. Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born. Centers for Disease Control and Prevention",MPlusHealthTopics,Birth Defects +What is (are) Spina Bifida ?,"Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby is born. The symptoms of spina bifida vary from person to person. Most people with spina bifida are of normal intelligence. Some people need assistive devices such as braces, crutches, or wheelchairs. They may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain. The exact cause of spina bifida is unknown. It seems to run in families. Taking folic acid can reduce the risk of having a baby with spina bifida. It's in most multivitamins. Women who could become pregnant should take it daily. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Spina Bifida +What is (are) Blood Disorders ?,"Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include - Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots - Anemia, which happens when your blood does not carry enough oxygen to the rest of your body - Cancers of the blood, such as leukemia and myeloma - Eosinophilic disorders, which are problems with one type of white blood cell.",MPlusHealthTopics,Blood Disorders +What is (are) Nail Diseases ?,"Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots and vertical ridges are harmless. Nail problems that sometimes require treatment include - Bacterial and fungal infections - Ingrown nails - Tumors - Warts Keeping your nails clean, dry, and trimmed can help you avoid some problems. Do not remove the cuticle, which can cause infection.",MPlusHealthTopics,Nail Diseases +What is (are) Spinal Cord Diseases ?,"Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. It is protected by your vertebrae, which are the bone disks that make up your spine. If you have an accident that damages the vertebrae or other parts of the spine, this can also injure the spinal cord. Other spinal cord problems include - Tumors - Infections such as meningitis and polio - Inflammatory diseases - Autoimmune diseases - Degenerative diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy Symptoms vary but might include pain, numbness, loss of sensation and muscle weakness. These symptoms can occur around the spinal cord, and also in other areas such as your arms and legs. Treatments often include medicines and surgery.",MPlusHealthTopics,Spinal Cord Diseases +What is (are) Sepsis ?,"Sepsis is a serious illness. It happens when your body has an overwhelming immune response to a bacterial infection. The chemicals released into the blood to fight the infection trigger widespread inflammation. This leads to blood clots and leaky blood vessels. They cause poor blood flow, which deprives your body's organs of nutrients and oxygen. In severe cases, one or more organs fail. In the worst cases, blood pressure drops and the heart weakens, leading to septic shock. Anyone can get sepsis, but the risk is higher in - People with weakened immune systems - Infants and children - The elderly - People with chronic illnesses, such as diabetes, AIDS, cancer, and kidney or liver disease - People suffering from a severe burn or physical trauma Common symptoms of sepsis are fever, chills, rapid breathing and heart rate, rash, confusion, and disorientation. Doctors diagnose sepsis using a blood test to see if the number of white blood cells is abnormal. They also do lab tests that check for signs of infection. People with sepsis are usually treated in hospital intensive care units. Doctors try to treat the infection, sustain the vital organs, and prevent a drop in blood pressure. Many patients receive oxygen and intravenous fluids. Other types of treatment, such as respirators or kidney dialysis, may be necessary. Sometimes, surgery is needed to clear up an infection. NIH: National Institute of General Medical Sciences",MPlusHealthTopics,Sepsis +Do you have information about Sexual Problems in Men,"Summary : Many men have sexual problems. They become more common as men age. Problems can include - Erectile dysfunction - Reduced or lost interest in sex - Problems with ejaculation - Low testosterone Stress, illness, medicines, or emotional problems may also be factors. Occasional problems with sexual function are common. If problems last more than a few months or cause distress for you or your partner, you should see your health care provider.",MPlusHealthTopics,Sexual Problems in Men +What is (are) After Surgery ?,"After any operation, you'll have some side effects. There is usually some pain with surgery. There may also be swelling and soreness around the area that the surgeon cut. Your surgeon can tell you which side effects to expect. There can also be complications. These are unplanned events linked to the operation. Some complications are infection, too much bleeding, reaction to anesthesia, or accidental injury. Some people have a greater risk of complications because of other medical conditions. Your surgeon can tell you how you might feel and what you will be able to do - or not do - the first few days, weeks, or months after surgery. Some other questions to ask are - How long you will be in the hospital - What kind of supplies, equipment, and help you might need when you go home - When you can go back to work - When it is ok to start exercising again - Are they any other restrictions in your activities Following your surgeon's advice can help you recover as soon as possible. Agency for Healthcare Quality and Research",MPlusHealthTopics,After Surgery +Do you have information about Fetal Health and Development,"Summary : A normal pregnancy lasts nine months. Each three-month period of pregnancy is called a trimester. During each trimester, the fetus grows and develops. There are specific prenatal tests to monitor both the mother's health and fetal health during each trimester. With modern technology, health professionals can - Detect birth defects - Identify problems that may affect childbirth - Correct some kinds of fetal problems before the baby is born",MPlusHealthTopics,Fetal Health and Development +What is (are) Cerebral Palsy ?,"Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile, or walk. Some babies are born with cerebral palsy; others get it after they are born. There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Cerebral Palsy +What is (are) Progressive Supranuclear Palsy ?,"Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease. PSP has no cure and no effective treatments. Walking aids, special glasses and certain medicines might help somewhat. Although the disease gets worse over time, it isn't fatal on its own. However, PSP is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Progressive Supranuclear Palsy +Do you have information about Water Safety (Recreational),"Summary : Playing in the water - whether swimming, boating or diving - can be fun. It can also be dangerous, especially for children. Being safe can help prevent injuries and drowning. To stay safe in the water - Avoid alcohol when swimming or boating - Wear a life jacket whenever you're in a boat - Don't swim alone, or in bad weather - Learn CPR - Learn to swim and teach your children to swim - Supervise your children when they are in the water - Prevent sunburns - use plenty of sunscreen",MPlusHealthTopics,Water Safety (Recreational) +What is (are) Bronchial Disorders ?,"The bronchi are two tubes that branch off the trachea, or windpipe. The bronchi carry air to your lungs. The most common problem with the bronchi is bronchitis, an inflammation of the tubes. Bronchitis can be acute or chronic. Other problems include - Bronchiectasis, a condition in which damage to the airways causes them to widen and become flabby and scarred - Exercise-induced bronchospasm, which happens when the airways shrink while you are exercising - Bronchiolitis, an inflammation of the small airways that branch off from the bronchi - Bronchopulmonary dysplasia, a condition affecting infants Treatment of bronchial disorders depends on the cause.",MPlusHealthTopics,Bronchial Disorders +What is (are) Lymphoma ?,"Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as - Swollen, painless lymph nodes in the neck, armpits or groin - Unexplained weight loss - Fever - Soaking night sweats - Coughing, trouble breathing or chest pain - Weakness and tiredness that don't go away - Pain, swelling or a feeling of fullness in the abdomen Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute",MPlusHealthTopics,Lymphoma +What is (are) Pituitary Disorders ?,"Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the ""master control gland"" - it makes hormones that affect growth and the functions of other glands in the body. With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary disorders, but the most common cause is a pituitary tumor.",MPlusHealthTopics,Pituitary Disorders +Do you have information about Coronary Artery Bypass Surgery,"Summary : In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try treatments such as lifestyle changes, medicines, and angioplasty, a procedure to open the arteries. If these treatments don't help, you may need coronary artery bypass surgery. The surgery creates a new path for blood to flow to the heart. The surgeon takes a healthy piece of vein from the leg or artery from the chest or wrist. Then the surgeon attaches it to the coronary artery, just above and below the narrowed area or blockage. This allows blood to bypass (get around) the blockage. Sometimes people need more than one bypass. The results of the surgery usually are excellent. Many people remain symptom-free for many years. You may need surgery again if blockages form in the grafted arteries or veins or in arteries that weren't blocked before. Lifestyle changes and medicines may help prevent arteries from becoming clogged again. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Coronary Artery Bypass Surgery +What is (are) Bipolar Disorder ?,"Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, ""up,"" and active to very sad and hopeless, ""down,"" and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role. Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime. If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes. If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best. NIH: National Institute of Mental Health",MPlusHealthTopics,Bipolar Disorder +What is (are) Parathyroid Disorders ?,"Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer. If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Parathyroid Disorders +What is (are) Colorectal Cancer ?,"The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. Symptoms of colorectal cancer include - Diarrhea or constipation - A feeling that your bowel does not empty completely - Blood (either bright red or very dark) in your stool - Stools that are narrower than usual - Frequent gas pains or cramps, or feeling full or bloated - Weight loss with no known reason - Fatigue - Nausea or vomiting Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early. NIH: National Cancer Institute",MPlusHealthTopics,Colorectal Cancer +What is (are) Fractures ?,"A fracture is a break, usually in a bone. If the broken bone punctures the skin, it is called an open or compound fracture. Fractures commonly happen because of car accidents, falls, or sports injuries. Other causes are low bone density and osteoporosis, which cause weakening of the bones. Overuse can cause stress fractures, which are very small cracks in the bone. Symptoms of a fracture are - Intense pain - Deformity - the limb looks out of place - Swelling, bruising, or tenderness around the injury - Numbness and tingling - Problems moving a limb You need to get medical care right away for any fracture. An x-ray can tell if your bone is broken. You may need to wear a cast or splint. Sometimes you need surgery to put in plates, pins or screws to keep the bone in place.",MPlusHealthTopics,Fractures +What is (are) Sciatica ?,"Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. It can start in the lower back and extend down your leg to your calf, foot, or even your toes. It's usually on only one side of your body. Causes of sciatica include - A ruptured intervertebral disk - Narrowing of the spinal canal that puts pressure on the nerve, called spinal stenosis - An injury such as a pelvic fracture. In many cases no cause can be found. Sometimes sciatica goes away on its own. Treatment, if needed, depends on the cause of the problem. It may include exercises, medicines, and surgery.",MPlusHealthTopics,Sciatica +Do you have information about Urinalysis,"Summary : A urinalysis is a test of your urine. It is often done to check for a urinary tract infections, kidney problems, or diabetes. You may also have one during a checkup, if you are admitted to the hospital, before you have surgery, or if you are pregnant. It can also monitor some medical conditions and treatments. A urinalysis involves checking the urine for - Its color - Its appearance (whether it is clear or cloudy) - Any odor - The pH level (acidity) - Whether there are substances that are not normally in urine, such as blood, too much protein, glucose, ketones, and bilirubin - Whether there are cells, crystals, and casts (tube-shaped proteins) - Whether it contains bacteria or other germs",MPlusHealthTopics,Urinalysis +What is (are) Helicobacter Pylori Infections ?,"Helicobacter pylori (H. pylori) is a type of bacteria that causes infection in the stomach. It is found in about two-thirds of the world's population. It may be spread by unclean food and water, but researchers aren't sure. It causes Peptic ulcers and can also cause stomach cancer. If you have symptoms of a peptic ulcer, your doctor will test your blood, breath or stool to see if it contains H. pylori. The best treatment is a combination of antibiotics and acid-reducing medicines. You will need to be tested after treatment to make sure the infection is gone. To help prevent an H. pylori infection, you should - Wash your hands after using the bathroom and before eating - Eat properly prepared food - Drink water from a clean, safe source NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Helicobacter Pylori Infections +What is (are) Infectious Diseases ?,"Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections. There are four main kinds of germs: - Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick - Viruses - capsules that contain genetic material, and use your own cells to multiply - Fungi - primitive plants, like mushrooms or mildew - Protozoa - one-celled animals that use other living things for food and a place to live NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Infectious Diseases +What is (are) Women's Health Checkup ?,"Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment are better. As a woman, you need some special exams and screenings. During your checkup, your health care provider will usually do: - A pelvic exam - an exam to check if internal female organs are normal by feeling their shape and size. - A Pap test - a test to check for cancer of the cervix, the opening to a woman's uterus. Cells from the cervix are examined under a microscope. - A clinical breast exam - to check for breast cancer by feeling and looking at your breasts. Your health care provider may also recommend other tests, including a mammogram or a test for HPV.",MPlusHealthTopics,Women's Health Checkup +What is (are) Aphasia ?,"Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. There are four main types: - Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean - Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words - Anomic aphasia - you have trouble using the correct word for objects, places, or events - Global aphasia - you can't speak, understand speech, read, or write Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Aphasia +What is (are) Paralysis ?,"Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include - Nerve diseases such as amyotrophic lateral sclerosis - Autoimmune diseases such as Guillain-Barre syndrome - Bell's palsy, which affects muscles in the face Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.",MPlusHealthTopics,Paralysis +What is (are) Lewy Body Disease ?,"Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss of mental functions severe enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, build up in areas of the brain. The disease may cause a wide range of symptoms, including - Changes in alertness and attention - Hallucinations - Problems with movement and posture - Muscle stiffness - Confusion - Loss of memory Lewy body disease can be hard to diagnose, because Parkinson's disease and Alzheimer's disease cause similar symptoms. Scientists think that Lewy body disease might be related to these diseases, or that they sometimes happen together. Lewy body disease usually begins between the ages of 50 and 85. The disease gets worse over time. There is no cure. Treatment focuses on drugs to help symptoms. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Lewy Body Disease +Do you have information about Angioplasty,"Summary : If you have coronary artery disease, the arteries in your heart are narrowed or blocked by a sticky material called plaque. Angioplasty is a procedure to restore blood flow through the artery. You have angioplasty in a hospital. The doctor threads a thin tube through a blood vessel in the arm or groin up to the involved site in the artery. The tube has a tiny balloon on the end. When the tube is in place, the doctor inflates the balloon to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow. Doctors may use angioplasty to - Reduce chest pain caused by reduced blood flow to the heart - Minimize damage to heart muscle from a heart attack Many people go home the day after angioplasty, and are able to return to work within a week of coming home. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Angioplasty +Do you have information about Laboratory Tests,"Summary : Laboratory tests check a sample of your blood, urine, or body tissues. A technician or your doctor analyzes the test samples to see if your results fall within the normal range. The tests use a range because what is normal differs from person to person. Many factors affect test results. These include - Your sex, age and race - What you eat and drink - Medicines you take - How well you followed pre-test instructions Your doctor may also compare your results to results from previous tests. Laboratory tests are often part of a routine checkup to look for changes in your health. They also help doctors diagnose medical conditions, plan or evaluate treatments, and monitor diseases.",MPlusHealthTopics,Laboratory Tests +What is (are) Uterine Diseases ?,"The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy. Treatment depends on the cause. Sometimes birth control pills treat hormonal imbalances. If a thyroid problem is the cause, treating it may also stop the bleeding. If you have cancer or hyperplasia, an overgrowth of normal cells in the uterus, you may need surgery. With two other uterine problems, tissue that normally lines the uterus grows where it is not supposed to. In endometriosis, it grows outside the uterus. In adenomyosis, it grows in the uterus's outside walls. Pain medicine may help. Other treatments include hormones and surgery.",MPlusHealthTopics,Uterine Diseases +What is (are) Elder Abuse ?,"Many older people are victims of elder abuse. It is the mistreatment of an older person, usually by a caregiver. It can happen within the family. It can also happen in assisted living facilities or nursing homes. The mistreatment may be - Physical, sexual, or emotional abuse - Neglect or abandonment - Financial abuse - stealing of money or belongings Possible signs of elder abuse include unexplained bruises, burns, and injuries. There may also be bed sores and poor hygiene. The person may become withdrawn, agitated, and depressed. There may be a sudden change in the person's financial situation. Elder abuse will not stop on its own. Someone else needs to step in and help. If you think that an older person is in urgent danger, call 9-1-1. Otherwise, contact adult protective services. NIH: National Institute on Aging",MPlusHealthTopics,Elder Abuse +What is (are) Teenage Pregnancy ?,"Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks for the baby include premature birth and a low birth weight. If you're a pregnant teen, you can help yourself and your baby by - Getting regular prenatal care - Taking your prenatal vitamins for your health and to prevent some birth defects - Avoiding smoking, alcohol, and drugs - Using a condom, if you are having sex, to prevent sexually transmitted diseases that could hurt your baby",MPlusHealthTopics,Teenage Pregnancy +What is (are) Vascular Diseases ?,"The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include - Family history of vascular or heart diseases - Pregnancy - Illness or injury - Long periods of sitting or standing still - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol - Smoking - Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.",MPlusHealthTopics,Vascular Diseases +Do you have information about Blood Clots,"Summary : Normally, if you get hurt, your body forms a blood clot to stop the bleeding. Some people get too many clots or their blood clots abnormally. Many conditions can cause the blood to clot too much or prevent blood clots from dissolving properly. Risk factors for excessive blood clotting include - Certain genetic disorders - Atherosclerosis - Diabetes - Atrial fibrillation - Overweight, obesity, and metabolic syndrome - Some medicines - Smoking Blood clots can form in, or travel to, the blood vessels in the brain, heart, kidneys, lungs, and limbs. A clot in the veins deep in the limbs is called deep vein thrombosis (DVT). DVT usually affects the deep veins of the legs. If a blood clot in a deep vein breaks off and travels through the bloodstream to the lungs and blocks blood flow, the condition is called pulmonary embolism. Other complications of blood clots include stroke, heart attack, kidney problems and kidney failure, and pregnancy-related problems. Treatments for blood clots include blood thinners and other medicines.",MPlusHealthTopics,Blood Clots +What is (are) Dentures ?,"Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth. Advances in dentistry have made many improvements in dentures. They are more natural looking and comfortable than they used to be. But they still may feel strange at first. In the beginning, your dentist may want to see you often to make sure the dentures fit. Over time, your mouth will change and your dentures may need to be adjusted or replaced. Be sure to let your dentist handle these adjustments. Speaking and eating may feel different with dentures. Be careful when wearing dentures because they may make it harder for you to feel hot foods and liquids. Also, you may not notice biting on a bone from your food. NIH: National Institute on Aging",MPlusHealthTopics,Dentures +What is (are) Inhalation Injuries ?,"There are a variety of substances you can inhale that can cause acute internal injuries. Particles in the air from fires and toxic fumes can damage your eyes and respiratory system. They also can make chronic heart and lung diseases worse. Symptoms of acute inhalation injuries may include - Coughing and phlegm - A scratchy throat - Irritated sinuses - Shortness of breath - Chest pain or tightness - Headaches - Stinging eyes - A runny nose - If you already have asthma, it may get worse. The best way to prevent inhalation injuries is to limit your exposure. If you smell or see smoke, or know that fires are nearby, you should leave the area if you are at greater risk from breathing smoke. Environmental Protection Agency",MPlusHealthTopics,Inhalation Injuries +What is (are) Prader-Willi Syndrome ?,"Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include - Short stature - Poor motor skills - Weight gain - Underdeveloped sex organs - Mild intellectual and learning disabilities There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Prader-Willi Syndrome +Do you have information about Lice,"Summary : Lice are parasitic insects that can be found on people's heads and bodies. They survive by feeding on human blood. Lice found on each area of the body are different from each other. The three types of lice that live on humans are head lice, body lice (also called clothes lice), and pubic lice (""crabs""). Symptoms of lice may include - Intense itching - Rash - Visible nits (lice eggs) or crawling lice Lice spread most commonly by close person-to-person contact. Dogs, cats, and other pets do not spread human lice. Lice move by crawling. They cannot hop or fly. If you get lice, both over-the-counter and prescription medicines are available for treatment. Centers for Disease Control and Prevention",MPlusHealthTopics,Lice +What is (are) Indigestion ?,"Nearly everyone has had indigestion at one time. It's a feeling of discomfort or a burning feeling in your upper abdomen. You may have heartburn or belch and feel bloated. You may also feel nauseated, or even throw up. You might get indigestion from eating too much or too fast, eating high-fat foods, or eating when you're stressed. Smoking, drinking too much alcohol, using some medicines, being tired, and having ongoing stress can also cause indigestion or make it worse. Sometimes the cause is a problem with the digestive tract, like an ulcer or GERD. Avoiding foods and situations that seem to cause it may help. Because indigestion can be a sign of a more serious problem, see your health care provider if it lasts for more than two weeks or if you have severe pain or other symptoms. Your health care provider may use x-rays, lab tests, and an upper endoscopy to diagnose the cause. You may need medicines to treat the symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Indigestion +Do you have information about Diagnostic Imaging,"Summary : Diagnostic imaging lets doctors look inside your body for clues about a medical condition. A variety of machines and techniques can create pictures of the structures and activities inside your body. The type of imaging your doctor uses depends on your symptoms and the part of your body being examined. They include - X-rays - CT scans - Nuclear medicine scans - MRI scans - Ultrasound Many imaging tests are painless and easy. Some require you to stay still for a long time inside a machine. This can be uncomfortable. Certain tests involve exposure to a small amount of radiation. For some imaging tests, doctors insert a tiny camera attached to a long, thin tube into your body. This tool is called a scope. The doctor moves it through a body passageway or opening to see inside a particular organ, such as your heart, lungs, or colon. These procedures often require anesthesia.",MPlusHealthTopics,Diagnostic Imaging +What is (are) Scleroderma ?,"Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can cause swelling or pain in your muscles and joints. Symptoms of scleroderma include - Calcium deposits in connective tissues - Raynaud's phenomenon, a narrowing of blood vessels in the hands or feet - Swelling of the esophagus, the tube between your throat and stomach - Thick, tight skin on your fingers - Red spots on your hands and face No one knows what causes scleroderma. It is more common in women. It can be mild or severe. Doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. There is no cure, but various treatments can control symptoms and complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Scleroderma +What is (are) Shoulder Injuries and Disorders ?,"Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a stable or normal position, the shoulder must be anchored by muscles, tendons and ligaments. Because the shoulder can be unstable, it is the site of many common problems. They include sprains, strains, dislocations, separations, tendinitis, bursitis, torn rotator cuffs, frozen shoulder, fractures and arthritis. Usually shoulder problems are treated with RICE. This stands for Rest, Ice, Compression and Elevation. Other treatments include exercise, medicines to reduce pain and swelling, and surgery if other treatments don't work. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Shoulder Injuries and Disorders +Do you have information about Cardiac Rehabilitation,"Summary : Cardiac rehabilitation (rehab) is a medically supervised program to help people who have - A heart attack - Angioplasty or coronary artery bypass grafting for coronary heart disease - A heart valve repair or replacement - A heart transplant or a lung transplant - Angina - Heart failure The goal is to help you return to an active life, and to reduce the risk of further heart problems. A team of specialists will create a plan for you that includes exercise training, education on heart healthy living, and counseling to reduce stress. You will learn how to reduce your risk factors, such as high blood pressure, high blood cholesterol, depression, and diabetes. Being overweight or obese, smoking, and not exercising are other risk factors. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Cardiac Rehabilitation +What is (are) Giant Cell Arteritis ?,"Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include - Headaches - Pain and tenderness over the temples - Double vision or visual loss, dizziness - Problems with coordination and balance - Pain in your jaw and tongue Your doctor will make the diagnosis based on your medical history, symptoms, and a physical exam. There is no single test to diagnose giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Giant Cell Arteritis +Do you have information about Blood Thinners,"Summary : If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. You may also take a blood thinner if you have - An abnormal heart rhythm called atrial fibrillation - Heart valve surgery - Congenital heart defects There are two main types of blood thinners. Anticoagulants, such as heparin or warfarin (also called Coumadin), work on chemical reactions in your body to lengthen the time it takes to form a blood clot. Antiplatelet drugs, such as aspirin, prevent blood cells called platelets from clumping together to form a clot. When you take a blood thinner, follow directions carefully. Make sure that your healthcare provider knows all of the medicines and supplements you are using.",MPlusHealthTopics,Blood Thinners +Do you have information about Circumcision,"Summary : Circumcision is the removal of the foreskin, which is the skin that covers the tip of the penis. In the United States, it is often done before a new baby leaves the hospital. There are medical benefits and risks to circumcision. Possible benefits include a lower risk of urinary tract infections, penile cancer and sexually transmitted diseases. The risks include pain and a low risk of bleeding or infection. The American Academy of Pediatrics (AAP) found that the medical benefits of circumcision outweigh the risks. They recommend that parents make this decision in consultation with their pediatrician. Parents need to decide what is best for their sons, based on their religious, cultural and personal preferences.",MPlusHealthTopics,Circumcision +Do you have information about Infant and Newborn Care,"Summary : Going home with a new baby is exciting, but it can be scary, too. Newborns have many needs, like frequent feedings and diaper changes. Babies can have health issues that are different from older children and adults, like diaper rash and cradle cap. Your baby will go through many changes during the first year of life. You may feel uneasy at first. Ask your health care provider for help if you need it.",MPlusHealthTopics,Infant and Newborn Care +What is (are) Hay Fever ?,"Each spring, summer, and fall, trees, weeds, and grasses release tiny pollen grains into the air. Some of the pollen ends up in your nose and throat. This can trigger a type of allergy called hay fever. Symptoms can include - Sneezing, often with a runny or clogged nose - Coughing and postnasal drip - Itching eyes, nose and throat - Red and watery eyes - Dark circles under the eyes Your health care provider may diagnose hay fever based on a physical exam and your symptoms. Sometimes skin or blood tests are used. Taking medicines and using nasal sprays can relieve symptoms. You can also rinse out your nose, but be sure to use distilled or sterilized water with saline. Allergy shots can help make you less sensitive to pollen and provide long-term relief. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Hay Fever +What is (are) Paget's Disease of Bone ?,"Paget's disease of bone causes your bones to grow too large and weak. They also might break easily. The disease can lead to other health problems, too, such as arthritis and hearing loss. You can have Paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. The disease might affect one or several bones, but not your entire skeleton. More men than women have the disease. It is most common in older people. No one knows what causes Paget's disease. In some cases, a virus might be responsible. It tends to run in families. Many people do not know they have Paget's disease because their symptoms are mild. For others, symptoms can include - Pain - Enlarged bones - Broken bones - Damaged cartilage in joints Doctors use blood tests and imaging tests to diagnose Paget's disease. Early diagnosis and treatment can prevent some symptoms from getting worse. Treatments include medicines and sometimes surgery. A good diet and exercise might also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Paget's Disease of Bone +What is (are) Kidney Cancer ?,"You have two kidneys. They are fist-sized organs on either side of your backbone above your waist. The tubes inside filter and clean your blood, taking out waste products and making urine. Kidney cancer forms in the lining of tiny tubes inside your kidneys. Kidney cancer becomes more likely as you age. Risk factors include smoking, having certain genetic conditions, and misusing pain medicines for a long time. You may have no symptoms at first. They may appear as the cancer grows. See your health care provider if you notice - Blood in your urine - A lump in your abdomen - Weight loss for no reason - Pain in your side that does not go away - Loss of appetite Treatment depends on your age, your overall health and how advanced the cancer is. It might include surgery, chemotherapy, or radiation, biologic, or targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Kidney Cancer +What is (are) Cervical Cancer ?,"The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute",MPlusHealthTopics,Cervical Cancer +Do you have information about Islet Cell Transplantation,"Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. It is an experimental treatment for type 1 diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin. A person who has type 1 diabetes must take insulin daily to live. Transplanted islet cells, however, can take over the work of the destroyed cells. The beta cells in these islets will begin to make and release insulin. Researchers hope islet transplantation will help people with type 1 diabetes live without daily insulin injections. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Islet Cell Transplantation +What is (are) Hemochromatosis ?,"Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail. There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Hemochromatosis +What is (are) Viral Infections ?,"Viruses are capsules with genetic material inside. They are very tiny, much smaller than bacteria. Viruses cause familiar infectious diseases such as the common cold, flu and warts. They also cause severe illnesses such as HIV/AIDS, smallpox and hemorrhagic fevers. Viruses are like hijackers. They invade living, normal cells and use those cells to multiply and produce other viruses like themselves. This eventually kills the cells, which can make you sick. Viral infections are hard to treat because viruses live inside your body's cells. They are ""protected"" from medicines, which usually move through your bloodstream. Antibiotics do not work for viral infections. There are a few antiviral medicines available. Vaccines can help prevent you from getting many viral diseases. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Viral Infections +Do you have information about Laser Eye Surgery,"Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power. There are different types of laser eye surgery. LASIK - laser-assisted in situ keratomileusis - is one of the most common. Many patients who have LASIK end up with 20/20 vision. But, like all medical procedures, it has both risks and benefits. Only your eye doctor can tell if you are a good candidate for laser eye surgery.",MPlusHealthTopics,Laser Eye Surgery +Do you have information about Urine and Urination,"Summary : Your kidneys make urine by filtering wastes and extra water from your blood. The waste is called urea. Your blood carries it to the kidneys. From the kidneys, urine travels down two thin tubes called ureters to the bladder. The bladder stores urine until you are ready to urinate. It swells into a round shape when it is full and gets smaller when empty. If your urinary system is healthy, your bladder can hold up to 16 ounces (2 cups) of urine comfortably for 2 to 5 hours. You may have problems with urination if you have - Kidney failure - Urinary tract infections - An enlarged prostate - Bladder control problems like incontinence, overactive bladder, or interstitial cystitis - A blockage that prevents you from emptying your bladder Some conditions may also cause you to have blood or protein in your urine. If you have a urinary problem, see your healthcare provider. Urinalysis and other urine tests can help to diagnose the problem. Treatment depends on the cause. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Urine and Urination +What is (are) Klinefelter's Syndrome ?,"Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have - Smaller testes and penis - Breast growth - Less facial and body hair - Reduced muscle tone - Narrower shoulders and wider hips - Weaker bones - Decreased sexual interest - Lower energy KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in. A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Klinefelter's Syndrome +What is (are) Schizophrenia ?,"Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. They may think other people are trying to hurt them. Sometimes they don't make sense when they talk. The disorder makes it hard for them to keep a job or take care of themselves. Symptoms of schizophrenia usually start between ages 16 and 30. Men often develop symptoms at a younger age than women. People usually do not get schizophrenia after age 45. There are three types of symptoms: - Psychotic symptoms distort a person's thinking. These include hallucinations (hearing or seeing things that are not there), delusions (beliefs that are not true), trouble organizing thoughts, and strange movements. - ""Negative"" symptoms make it difficult to show emotions and to function normally. A person may seem depressed and withdrawn. - Cognitive symptoms affect the thought process. These include trouble using information, making decisions, and paying attention. No one is sure what causes schizophrenia. Your genes, environment, and brain chemistry may play a role. There is no cure. Medicine can help control many of the symptoms. You may need to try different medicines to see which works best. You should stay on your medicine for as long as your doctor recommends. Additional treatments can help you deal with your illness from day to day. These include therapy, family education, rehabilitation, and skills training. NIH: National Institute of Mental Health",MPlusHealthTopics,Schizophrenia +What is (are) Tooth Decay ?,"You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - See your dentist or oral health professional regularly",MPlusHealthTopics,Tooth Decay +What is (are) Premature Ovarian Failure ?,"Premature ovarian failure (POF) is when a woman's ovaries stop working before she is 40. POF is different from premature menopause. With premature menopause, your periods stop before age 40. You can no longer get pregnant. The cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. With POF, some women still have occasional periods. They may even get pregnant. In most cases of POF, the cause is unknown. Missed periods are usually the first sign of POF. Later symptoms may be similar to those of natural menopause: - Hot flashes - Night sweats - Irritability - Poor concentration - Decreased sex drive - Pain during sex - Vaginal dryness Doctors diagnose POF by doing a physical exam and lab and imaging tests. Most women with POF cannot get pregnant naturally. Fertility treatments help a few women; others use donor eggs to have children. There is no treatment that will restore normal ovarian function. However, many health care providers suggest taking hormones until age 50. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Premature Ovarian Failure +What is (are) Thalassemia ?,"Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Thalassemia +Do you have information about Breast Reconstruction,"Summary : If you need a mastectomy, you have a choice about whether or not to have surgery to rebuild the shape of the breast. Instead of breast reconstruction, you could choose to wear a breast form that replaces the breast, wear padding inside your bra, or do nothing. All of these options have pros and cons. What is right for one woman may not be right for another. Breast reconstruction may be done at the same time as the mastectomy, or it may be done later on. If radiation therapy is part of the treatment plan, your doctor may suggest waiting until after radiation therapy. If you're thinking about breast reconstruction, talk to a plastic surgeon before the mastectomy, even if you plan to have your reconstruction later on. A surgeon can reconstruct the breast in many ways. Some women choose to have breast implants, which are filled with saline or silicone gel. Another method uses tissue taken from another part of your body. The plastic surgeon can take skin, muscle, and fat from your lower abdomen, back, or buttocks. The type of reconstruction that is best for you depends on your age, body type, and the type of cancer surgery that you had. A plastic surgeon can help you decide. NIH: National Cancer Institute",MPlusHealthTopics,Breast Reconstruction +What is (are) Joint Disorders ?,"A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including - Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged. - Bursitis - inflammation of a fluid-filled sac that cushions the joint - Dislocations - injuries that force the ends of the bones out of position Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. For arthritis, injuries, or other diseases, you may need joint replacement surgery to remove the damaged joint and put in a new one. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Joint Disorders +What is (are) Bleeding ?,"Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.",MPlusHealthTopics,Bleeding +What is (are) Parenting ?,"If you're a parent, you get plenty of suggestions on how to raise your child. From experts to other parents, people are always ready to offer advice. Parenting tips, parents' survival guides, dos, don'ts, shoulds and shouldn'ts - new ones come out daily. The truth is there is more than one ""right"" way to be a good parent. Good parenting includes - Keeping your child safe - Showing affection and listening to your child - Providing order and consistency - Setting and enforcing limits - Spending time with your child - Monitoring your child's friendships and activities - Leading by example NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Parenting +Do you have information about Traveler's Health,"Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and diarrhea. Be safe by using only bottled or purified water for drinking, making ice cubes, and brushing your teeth. If you use tap water, boil it or use iodine tablets. Food poisoning can also be a risk. Eat only food that is fully cooked and served hot. Avoid unwashed or unpeeled raw fruits and vegetables. If you are traveling out of the country, you might also need vaccinations or medicines to prevent specific illnesses. Which ones you need will depend on what part of the world you're visiting, the time of year, your age, overall health status, and previous immunizations. See your doctor 4 to 6 weeks before your trip. Most vaccines take time to become effective. Centers for Disease Control and Prevention",MPlusHealthTopics,Traveler's Health +What is (are) Bowel Incontinence ?,"Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging. Causes include - Constipation - Damage to muscles or nerves of the anus and rectum - Diarrhea - Pelvic support problems Treatments include changes in diet, medicines, bowel training, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Bowel Incontinence +Do you have information about Hysterectomy,"Summary : A hysterectomy is surgery to remove a woman's uterus or womb. The uterus is the place where a baby grows when a woman is pregnant. After a hysterectomy, you no longer have menstrual periods and can't become pregnant. Sometimes the surgery also removes the ovaries and fallopian tubes. If you have both ovaries taken out, you will enter menopause. Your health care provider might recommend a hysterectomy if you have - Fibroids - Endometriosis that hasn't been cured by medicine or surgery - Uterine prolapse - when the uterus drops into the vagina - Cancer of the uterine, cervix, or ovaries - Vaginal bleeding that persists despite treatment - Chronic pelvic pain, as a last resort Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Hysterectomy +What is (are) Staphylococcal Infections ?,"Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced ""staff infections""), including - Skin infections - Pneumonia - Food poisoning - Toxic shock syndrome - Blood poisoning (bacteremia) Skin infections are the most common. They can look like pimples or boils. They may be red, swollen and painful, and sometimes have pus or other drainage. They can turn into impetigo, which turns into a crust on the skin, or cellulitis, a swollen, red area of skin that feels hot. Anyone can get a staph skin infection. You are more likely to get one if you have a cut or scratch, or have contact with a person or surface that has staph bacteria. The best way to prevent staph is to keep hands and wounds clean. Most staph skin infections are easily treated with antibiotics or by draining the infection. Some staph bacteria such as MRSA (methicillin-resistant Staphylococcus aureus) are resistant to certain antibiotics, making infections harder to treat.",MPlusHealthTopics,Staphylococcal Infections +Do you have information about Cancer Chemotherapy,"Summary : Normally, your cells grow and die in a controlled way. Cancer cells keep forming without control. Chemotherapy is drug therapy that can kill these cells or stop them from multiplying. However, it can also harm healthy cells, which causes side effects. During chemotherapy you may have no side effects or just a few. The kinds of side effects you have depend on the type and dose of chemotherapy you get. Side effects vary, but common ones are nausea, vomiting, tiredness, pain and hair loss. Healthy cells usually recover after chemotherapy, so most side effects gradually go away. Your course of therapy will depend on the cancer type, the chemotherapy drugs used, the treatment goal and how your body responds. You may get treatment every day, every week or every month. You may have breaks between treatments so that your body has a chance to build new healthy cells. You might take the drugs by mouth, in a shot or intravenously. NIH: National Cancer Institute",MPlusHealthTopics,Cancer Chemotherapy +What is (are) Abscess ?,"An abscess is a pocket of pus. You can get an abscess almost anywhere in your body. When an area of your body becomes infected, your body's immune system tries to fight the infection. White blood cells go to the infected area, collect within the damaged tissue, and cause inflammation. During this process, pus forms. Pus is a mixture of living and dead white blood cells, germs, and dead tissue. Bacteria, viruses, parasites and swallowed objects can all lead to abscesses. Skin abscesses are easy to detect. They are red, raised and painful. Abscesses inside your body may not be obvious and can damage organs, including the brain, lungs and others. Treatments include drainage and antibiotics.",MPlusHealthTopics,Abscess +What is (are) Aspergillosis ?,"Aspergillosis is a disease caused by a fungus (or mold) called Aspergillus. The fungus is very common in both indoors and outdoors. Most people breathe in the spores of the fungus every day without being affected. But some people get the disease. It usually occurs in people with lung diseases or weakened immune systems. There are different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA). Symptoms of ABPA include wheezing and coughing. ABPA can affect healthy people but it is most common in people with asthma or cystic fibrosis. Another kind is invasive aspergillosis, which damages tissues in the body. It usually affects the lungs. Sometimes it can also cause infection in other organs and spread throughout the body. It affects people who have immune system problems, such as people who have had a transplant, are taking high doses of steroids, or getting chemotherapy for some cancers. Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, and an examination of tissues for signs of the fungus. Treatment is with antifungal drugs. If you have ABPA, you may also take steroids. Centers for Disease Control and Prevention",MPlusHealthTopics,Aspergillosis +What is (are) Breast Diseases ?,"Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). If you have a breast lump, pain, discharge or skin irritation, see your health care provider. Minor and serious breast problems have similar symptoms. Although many women fear cancer, most breast problems are not cancer. Some common breast changes are - Fibrocystic breast changes - lumpiness, thickening and swelling, often just before a woman's period - Cysts - fluid-filled lumps - Fibroadenomas - solid, round, rubbery lumps that move easily when pushed, occurring most in younger women - Intraductal papillomas - growths similar to warts near the nipple - Blocked milk ducts - Milk production when a woman is not breastfeeding NIH: National Cancer Institute",MPlusHealthTopics,Breast Diseases +What is (are) Rare Diseases ?,"A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases - May involve chronic illness, disability, and often premature death - Often have no treatment or not very effective treatment - Are frequently not diagnosed correctly - Are often very complex - Are often caused by changes in genes It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health",MPlusHealthTopics,Rare Diseases +What is (are) Rubella ?,"Rubella is an infection caused by a virus. It is usually mild with fever and a rash. About half of the people who get rubella do not have symptoms. If you do get them, symptoms may include - A rash that starts on the face and spreads to the body - Mild fever - Aching joints, especially in young women - Swollen glands Rubella is most dangerous for a pregnant woman's baby. It can cause miscarriage or birth defects. Rubella spreads when an infected person coughs or sneezes. People without symptoms can still spread it. There is no treatment, but the measles-mumps-rubella (MMR) vaccine can prevent it. Centers for Disease Control and Prevention",MPlusHealthTopics,Rubella +What is (are) Anaphylaxis ?,"Anaphylaxis is a serious allergic reaction. It can begin very quickly, and symptoms may be life-threatening. The most common causes are reactions to foods (especially peanuts), medications, and stinging insects. Other causes include exercise and exposure to latex. Sometimes no cause can be found. It can affect many organs: - Skin - itching, hives, redness, swelling - Nose - sneezing, stuffy nose, runny nose - Mouth - itching, swelling of the lips or tongue - Throat - itching, tightness, trouble swallowing, swelling of the back of the throat - Chest - shortness of breath, coughing, wheezing, chest pain or tightness - Heart - weak pulse, passing out, shock - Gastrointestinal tract - vomiting, diarrhea, cramps - Nervous system - dizziness or fainting If someone is having a serious allergic reaction, call 9-1-1. If an auto-injector is available, give the person the injection right away. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Anaphylaxis +What is (are) Connective Tissue Disorders ?,"Connective tissue is the material inside your body that supports many of its parts. It is the ""cellular glue"" that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue. There are over 200 disorders that impact connective tissue. Some, like cellulitis, are the result of an infection. Injuries can cause connective tissue disorders, such as scars. Others, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta, are genetic. Still others, like scleroderma, have no known cause. Each disorder has its own symptoms and needs different treatment.",MPlusHealthTopics,Connective Tissue Disorders +What is (are) Down Syndrome ?,"Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Down Syndrome +What is (are) Immune System and Disorders ?,"Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these ""foreign"" invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include - Allergy and asthma - immune responses to substances that are usually not harmful - Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts - Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Immune System and Disorders +What is (are) Behcet's Syndrome ?,"Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms are - Sores in the mouth - Sores on the sex organs - Other skin sores - Swelling of parts of the eye - Pain, swelling and stiffness of the joints More serious problems can include meningitis, blood clots, inflammation of the digestive system and blindness. Doctors aren't sure what causes Behcet's. It is rare in the United States, but is common in the Middle East and Asia. It mainly affects people in their 20s and 30s. Diagnosing Behcet's can take a long time, because symptoms may come and go, and it may take months or even years to have all of the symptoms. There is no cure. Treatment focuses on reducing pain and preventing serious problems. Most people can control symptoms with treatment. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Behcet's Syndrome +What is (are) Hepatitis ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. Viruses cause most cases of hepatitis. The type of hepatitis is named for the virus that causes it; for example, hepatitis A, hepatitis B or hepatitis C. Drug or alcohol use can also cause hepatitis. In other cases, your body mistakenly attacks healthy cells in the liver. Some people who have hepatitis have no symptoms. Others may have - Loss of appetite - Nausea and vomiting - Diarrhea - Dark-colored urine and pale bowel movements - Stomach pain - Jaundice, yellowing of skin and eyes Some forms of hepatitis are mild, and others can be serious. Some can lead to scarring, called cirrhosis, or to liver cancer. Sometimes hepatitis goes away by itself. If it does not, it can be treated with drugs. Sometimes hepatitis lasts a lifetime. Vaccines can help prevent some viral forms.",MPlusHealthTopics,Hepatitis +Do you have information about Marijuana,"Summary : Marijuana is a green, brown, or gray mix of dried, crumbled parts from the marijuana plant. It can be rolled up and smoked like a cigarette or cigar or smoked in a pipe. Sometimes people mix it in food or inhale it using a vaporizer. Marijuana can cause problems with memory, learning, and behavior. Smoking it can cause some of the same coughing and breathing problems as smoking cigarettes. Some people get addicted to marijuana after using it for a while. It is more likely to happen if they use marijuana every day, or started using it when they were teenagers. Some states have approved ""medical marijuana"" to ease symptoms of various health problems. The U.S. Food and Drug Administration (FDA) has not approved the marijuana plant as a medicine. However, there have been scientific studies of cannabinoids, the chemicals in marijuana. This has led to two FDA-approved medicines. They contain THC, the active ingredient in marijuana. They treat nausea caused by chemotherapy and increase appetite in patients who have severe weight loss from HIV/AIDS. Scientists are doing more research with marijuana and its ingredients to treat many diseases and conditions. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Marijuana +Do you have information about Genetic Testing,"Summary : Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include - Finding genetic diseases in unborn babies - Finding out if people carry a gene for a disease and might pass it on to their children - Screening embryos for disease - Testing for genetic diseases in adults before they cause symptoms - Making a diagnosis in a person who has disease symptoms - Figuring out the type or dose of a medicine that is best for a certain person People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing. NIH: National Human Genome Research Institute",MPlusHealthTopics,Genetic Testing +What is (are) Ureteral Disorders ?,"Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters. The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. Small amounts of urine flow from the ureters into the bladder about every 10 to 15 seconds. Sometimes the ureters can become blocked or injured. This can block the flow of urine to the bladder. If urine stands still or backs up the ureter, you may get a urinary tract infections. Doctors diagnose problems with the ureters using different tests. These include urine tests, x-rays, and examination of the ureter with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Ureteral Disorders +What is (are) Diabetic Heart Disease ?,"If you have diabetes or pre-diabetes you have an increased risk for heart disease. Diabetic heart disease can be coronary heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include - Family history of heart disease - Carrying extra weight around the waist - Abnormal cholesterol levels - High blood pressure - Smoking Some people who have diabetic heart disease have no signs or symptoms of heart disease. Others have some or all of the symptoms of heart disease. Treatments include medications to treat heart damage or to lower your blood glucose (blood sugar), blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure. Lifestyle changes also help. These include a healthy diet, maintaining a healthy weight, being physically active, and quitting smoking. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Heart Disease +What is (are) Porphyria ?,"Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Porphyria +What is (are) Common Cold ?,"Sneezing, sore throat, a stuffy nose, coughing - everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. You can get a cold by touching your eyes or nose after you touch surfaces with cold germs on them. You can also inhale the germs. Symptoms usually begin 2 or 3 days after infection and last 2 to 14 days. Washing your hands and staying away from people with colds will help you avoid colds. There is no cure for the common cold. For relief, try - Getting plenty of rest - Drinking fluids - Gargling with warm salt water - Using cough drops or throat sprays - Taking over-the-counter pain or cold medicines However, do not give aspirin to children. And do not give cough medicine to children under four. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Common Cold +What is (are) Pancreatic Diseases ?,"The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include - Pancreatitis, or inflammation of the pancreas: This happens when digestive enzymes start digesting the pancreas itself - Pancreatic cancer - Cystic fibrosis, a genetic disorder in which thick, sticky mucus can also block tubes in your pancreas The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals.",MPlusHealthTopics,Pancreatic Diseases +Do you have information about Inhalants,"Summary : If you're a parent, you may fear that your kids will use drugs such as marijuana or LSD. But you may not realize the dangers of substances in your own home. Household products such as glues, hair sprays, paints and lighter fluid can be drugs for kids in search of a quick high. Many young people inhale vapors from these, not knowing that it can cause serious health problems. Both parents and kids need to know the dangers. Even inhaling once can disrupt heart rhythms and lower oxygen levels. Either of these can cause death. Regular abuse can result in serious harm to the brain, heart, kidneys, and liver. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Inhalants +What is (are) Ehlers-Danlos Syndrome ?,"Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include - Loose joints - Fragile, small blood vessels - Abnormal scar formation and wound healing - Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.",MPlusHealthTopics,Ehlers-Danlos Syndrome +Do you have information about MRSA,"Summary : MRSA stands for methicillin-resistant Staphylococcus aureus. It causes a staph infection (pronounced ""staff infection"") that is resistant to several common antibiotics. There are two types of infection. Hospital-associated MRSA happens to people in healthcare settings. Community-associated MRSA happens to people who have close skin-to-skin contact with others, such as athletes involved in football and wrestling. Infection control is key to stopping MRSA in hospitals. To prevent community-associated MRSA - Practice good hygiene - Keep cuts and scrapes clean and covered with a bandage until healed - Avoid contact with other people's wounds or bandages - Avoid sharing personal items, such as towels, washcloths, razors, or clothes - Wash soiled sheets, towels, and clothes in hot water with bleach and dry in a hot dryer If a wound appears to be infected, see a health care provider. Treatments may include draining the infection and antibiotics. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,MRSA +What is (are) Listeria Infections ?,"Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics. Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk - Use precooked and ready-to-eat foods as soon as you can - Avoid raw milk and raw milk products - Heat ready-to-eat foods and leftovers until they are steaming hot - Wash fresh fruits and vegetables - Avoid rare meat and refrigerated smoked seafood Centers for Disease Control and Prevention",MPlusHealthTopics,Listeria Infections +What is (are) Ankylosing Spondylitis ?,"Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role. Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain. A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests. AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine. NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease",MPlusHealthTopics,Ankylosing Spondylitis +What is (are) HIV/AIDS ?,"HIV stands for human immunodeficiency virus. It kills or damages the body's immune system cells. AIDS stands for acquired immunodeficiency syndrome. It is the most advanced stage of infection with HIV. HIV most often spreads through unprotected sex with an infected person. It may also spread by sharing drug needles or through contact with the blood of an infected person. Women can give it to their babies during pregnancy or childbirth. The first signs of HIV infection may be swollen glands and flu-like symptoms. These may come and go a month or two after infection. Severe symptoms may not appear until months or years later. A blood test can tell if you have HIV infection. Your health care provider can perform the test, or call the national referral hotline at 1-800-CDC-INFO (24 hours a day, 1-800-232-4636 in English and en espaol; 1-888-232-6348 - TTY). There is no cure, but there are many medicines to fight both HIV infection and the infections and cancers that come with it. People can live with the disease for many years.",MPlusHealthTopics,HIV/AIDS +Do you have information about Limb Loss,"Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Problems with blood circulation. These may be the result of atherosclerosis or diabetes. Severe cases may result in amputation. - Injuries, including from traffic accidents and military combat - Cancer - Birth defects Some amputees have phantom pain, which is the feeling of pain in the missing limb. Other physical problems include surgical complications and skin problems, if you wear an artificial limb. Many amputees use an artificial limb. Learning how to use it takes time. Physical therapy can help you adapt. Recovery from the loss of a limb can be hard. Sadness, anger, and frustration are common. If you are having a tough time, talk to your doctor. Treatment with medicine or counseling can help.",MPlusHealthTopics,Limb Loss +What is (are) Leukemia ?,"Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including - Acute lymphocytic leukemia - Acute myeloid leukemia - Chronic lymphocytic leukemia - Chronic myeloid leukemia Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute",MPlusHealthTopics,Leukemia +What is (are) Cervix Disorders ?,"The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cells of the cervix, including cervical cancer. Other problems with the cervix include: - Cervicitis - inflammation of the cervix. This is usually from an infection. - Cervical incompetence - This can happen during pregnancy. The opening of the cervix widens long before the baby is due. - Cervical polyps and cysts - abnormal growths on the cervix",MPlusHealthTopics,Cervix Disorders +What is (are) Hair Problems ?,"The average person has 5 million hairs. Hair grows all over your body except on your lips, palms, and the soles of your feet. It takes about a month for healthy hair to grow half an inch. Most hairs grow for up to six years and then fall out. New hairs grow in their place. Hair helps keep you warm. It also protects your eyes, ears and nose from small particles in the air. Common problem with the hair and scalp include hair loss, infections, and flaking.",MPlusHealthTopics,Hair Problems +Do you have information about Breastfeeding,"Summary : Breastfeeding offers many benefits to your baby. Breast milk contains the right balance of nutrients to help your infant grow into a strong and healthy toddler. Some of the nutrients in breast milk also help protect your infant against some common childhood illnesses and infections. It may also help your health. Certain types of cancer may occur less often in mothers who have breastfed their babies. Women who don't have health problems should try to give their babies breast milk for at least the first six months of life. Most women with health problems can breastfeed. There are rare exceptions when women are advised not to breastfeed because they have certain illnesses. Some medicines, illegal drugs, and alcohol can also pass through the breast milk and cause harm to your baby. Check with your health care provider if you have concerns about whether you should breastfeed. If you are having problems with breastfeeding, contact a lactation consultant. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Breastfeeding +Do you have information about Farm Health and Safety,"Summary : You might think of farms as peaceful settings. Actually, farming is one of the most dangerous jobs in the United States. Farms have many health and safety hazards, including - Chemicals and pesticides - Machinery, tools and equipment that can be dangerous - Hazardous areas, such as grain bins, silos and wells - Livestock that can spread diseases or cause injuries Farming injuries are very common. Physical labor and accidents can cause injuries. Most farm accidents involve machinery. Proper machine inspection and maintenance can help prevent accidents. Using safety gloves, goggles and other protective equipment can also reduce accidents. Occupational Safety and Health Administration",MPlusHealthTopics,Farm Health and Safety +What is (are) Ovarian Disorders ?,"The ovaries are a pair of organs that women have. They are located in the pelvis, one on each side of the uterus. Each ovary is about the size and shape of an almond. The ovaries produce a woman's eggs. If an egg is fertilized by a sperm, a pregnancy can result. Ovaries also make the female hormones estrogen and progesterone. When a woman goes through menopause, her ovaries stop releasing eggs and make far lower levels of hormones. Problems with the ovaries include - Ovarian cancer - Ovarian cysts and polycystic ovary syndrome - Premature ovarian failure - Ovarian torsion, a twisting of the ovary",MPlusHealthTopics,Ovarian Disorders +Do you have information about Clinical Trials,"Summary : Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available. Every clinical trial has a protocol, or action plan, for conducting the trial. The plan describes what will be done in the study, how it will be conducted, and why each part of the study is necessary. Each study has its own rules about who can take part. Some studies need volunteers with a certain disease. Some need healthy people. Others want just men or just women. An Institutional Review Board (IRB) reviews, monitors, and approves many clinical trials. It is an independent committee of physicians, statisticians, and members of the community. Its role is to - Make sure that the study is ethical - Protect the rights and welfare of the participants - Make sure that the risks are reasonable when compared to the potential benefits In the United States, a clinical trial must have an IRB if it is studying a drug, biological product, or medical device that the Food and Drug Administration (FDA) regulates, or it is funded or carried out by the federal government. NIH: National Institutes of Health",MPlusHealthTopics,Clinical Trials +Do you have information about Flu Shot,Summary : Flu is a respiratory infection caused by a number of viruses. Most people with the flu get better on their own. But it can be serious. It can cause complications and sometimes even death. Getting the flu vaccine every year is the best way to lower your chance of getting the flu and spreading it to others. The flu vaccine causes antibodies to develop in your body about two weeks after you get it. These antibodies provide protection against infection with the viruses that are in the vaccine. Flu vaccines can either be shots or nasal sprays. There is also a high-dose version for people 65 and older. Ask your health care provider which one is right for you. Everyone 6 months of age and older should get a flu vaccine every season. People with egg allergies should check with their doctors before getting a vaccine. Other exceptions are people who have - Had reactions to flu shots before - Guillain-Barre Syndrome - A fever Centers for Disease Control and Prevention,MPlusHealthTopics,Flu Shot +What is (are) Toxoplasmosis ?,"Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. More than 60 million people in the U.S. have the parasite. Most of them don't get sick. But the parasite causes serious problems for some people. These include people with weak immune systems and babies whose mothers become infected for the first time during pregnancy. Problems can include damage to the brain, eyes, and other organs. You can get toxoplasmosis from - Waste from an infected cat - Eating contaminated meat that is raw or not well cooked - Using utensils or cutting boards after they've had contact with contaminated raw meat - Drinking infected water - Receiving an infected organ transplant or blood transfusion Most people with toxoplasmosis don't need treatment. There are drugs to treat it for pregnant women and people with weak immune systems. Centers for Disease Control and Prevention",MPlusHealthTopics,Toxoplasmosis +What is (are) Tumors and Pregnancy ?,"Tumors during pregnancy are rare, but they can happen. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. The most common cancers in pregnancy are breast cancer, cervical cancer, lymphoma, and melanoma. Cancer itself rarely harms the baby, and some cancer treatments are safe during pregnancy. You and your health care provider will work together to find the best treatment. Your options will depend on how far along the pregnancy is, as well as the type, size, and stage of your cancer. Another type of tumor that women can get is called a gestational trophoblastic disease (GTD). It happens when a fertilized egg doesn't become a fetus. GTD is not always easy to find. It is usually benign, but some types can be malignant. The most common type of GTD is a molar pregnancy. In its early stages, it may look like a normal pregnancy. You should see your health care provider if you have vaginal bleeding (not menstrual bleeding). Treatment depends on the type of tumor, whether it has spread to other places, and your overall health.",MPlusHealthTopics,Tumors and Pregnancy +What is (are) Kaposi's Sarcoma ?,"Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful. If the cancer spreads to the digestive tract or lungs, bleeding can result. Lung tumors can make breathing hard. Before the HIV/AIDS epidemic, KS usually developed slowly. In HIV/AIDS patients, though, the disease moves quickly. Treatment depends on where the lesions are and how bad they are. Treatment for HIV itself can shrink the lesions. However, treating KS does not improve survival from HIV/AIDS itself. NIH: National Cancer Institute",MPlusHealthTopics,Kaposi's Sarcoma +What is (are) Adhesions ?,"Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. They can pull sections of the intestines out of place. This may block food from passing through the intestine. Adhesions can occur anywhere in the body. But they often form after surgery on the abdomen. Almost everyone who has surgery on the abdomen gets adhesions. Some adhesions don't cause any problems. But when they partly or completely block the intestines, they cause symptoms such as - Severe abdominal pain or cramping - Vomiting - Bloating - An inability to pass gas - Constipation Adhesions can sometimes cause infertility in women by preventing fertilized eggs from reaching the uterus. No tests are available to detect adhesions. Doctors usually find them during surgery to diagnose other problems. Some adhesions go away by themselves. If they partly block your intestines, a diet low in fiber can allow food to move easily through the affected area. If you have a complete intestinal obstruction, it is life threatening. You should get immediate medical attention and may need surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Adhesions +What is (are) Bone Marrow Diseases ?,"Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. With bone marrow disease, there are problems with the stem cells or how they develop: - In leukemia, a cancer of the blood, the bone marrow makes abnormal white blood cells - In aplastic anemia, the bone marrow doesn't make red blood cells - In myeloproliferative disorders, the bone marrow makes too many white blood cells - Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells Causes of bone marrow diseases include genetics and environmental factors. Tests for bone marrow diseases include blood and bone marrow tests. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant.",MPlusHealthTopics,Bone Marrow Diseases +What is (are) Urethral Disorders ?,"The urethra is the tube that allows urine to pass out of the body. In men, it's a long tube that runs through the penis. It also carries semen in men. In women, it's short and is just above the vagina. Urethral problems may happen due to aging, illness, or injury. They include - Urethral stricture - a narrowing of the opening of the urethra - Urethritis - inflammation of the urethra, sometimes caused by infection Urethral problems may cause pain or difficulty passing urine. You may also have bleeding or discharge from the urethra. Doctors diagnose urethral problems using different tests. These include urine tests, x-rays and an examination of the urethra with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.",MPlusHealthTopics,Urethral Disorders +What is (are) High Blood Pressure in Pregnancy ?,"If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby. Controlling your blood pressure during pregnancy and getting regular prenatal care are important for the health of you and your baby. Treatments for high blood pressure in pregnancy may include close monitoring of the baby, lifestyle changes, and certain medicines. Some pregnant women with high blood pressure develop preeclampsia. It's a sudden increase in blood pressure after the 20th week of pregnancy. It can be life-threatening for both you and the unborn baby. There is no proven way to prevent it. Most women who have signs of preeclampsia are closely monitored to lessen or avoid complications. The only way to ""cure"" preeclampsia is to deliver the baby. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,High Blood Pressure in Pregnancy +Do you have information about Patient Rights,"Summary : As a patient, you have certain rights. Some are guaranteed by federal law, such as the right to get a copy of your medical records, and the right to keep them private. Many states have additional laws protecting patients, and healthcare facilities often have a patient bill of rights. An important patient right is informed consent. This means that if you need a treatment, your health care provider must give you the information you need to make a decision. Many hospitals have patient advocates who can help you if you have problems. Many states have an ombudsman office for problems with long term care. Your state's department of health may also be able to help.",MPlusHealthTopics,Patient Rights +Do you have information about Genes and Gene Therapy,"Summary : Genes are the building blocks of inheritance. Passed from parent to child, they contain instructions for making proteins. If genes don't produce the right proteins or don't produce them correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to treat or prevent disease. The most common form of gene therapy involves inserting a normal gene to replace an abnormal gene. Other approaches include - Swapping an abnormal gene for a normal one - Repairing an abnormal gene - Altering the degree to which a gene is turned on or off Although there is much hope for gene therapy, it is still experimental. Genetics Home Reference",MPlusHealthTopics,Genes and Gene Therapy +Do you have information about Seniors' Health,"Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age.It is important to understand what to expect. Some changes may just be part of normal aging, while others may be a warning sign of a medical problem. It is important to know the difference, and to let your healthcare provider know if you have any concerns. Having a healthy lifestyle can help you to deal with normal aging changes and make the most of your life.",MPlusHealthTopics,Seniors' Health +Do you have information about A1C,"Summary : A1C is a blood test for type 2 diabetes and prediabetes. It measures your average blood glucose, or blood sugar, level over the past 3 months. Doctors may use the A1C alone or in combination with other diabetes tests to make a diagnosis. They also use the A1C to see how well you are managing your diabetes. This test is different from the blood sugar checks that people with diabetes do every day. Your A1C test result is given in percentages. The higher the percentage, the higher your blood sugar levels have been: - A normal A1C level is below 5.7 percent - Prediabetes is between 5.7 to 6.4 percent. Having prediabetes is a risk factor for getting type 2 diabetes. People with prediabetes may need retests every year. - Type 2 diabetes is above 6.5 percent - If you have diabetes, you should have the A1C test at least twice a year. The A1C goal for many people with diabetes is below 7. It may be different for you. Ask what your goal should be. If your A1C result is too high, you may need to change your diabetes care plan. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,A1C +What is (are) Menopause ?,"Menopause is the time in a woman's life when her period stops. It usually occurs naturally, most often after age 45. Menopause happens because the woman's ovaries stop producing the hormones estrogen and progesterone. A woman has reached menopause when she has not had a period for one year. Changes and symptoms can start several years earlier. They include - A change in periods - shorter or longer, lighter or heavier, with more or less time in between - Hot flashes and/or night sweats - Trouble sleeping - Vaginal dryness - Mood swings - Trouble focusing - Less hair on head, more on face Some symptoms require treatment. Talk to your doctor about how to best manage menopause. Make sure the doctor knows your medical history and your family medical history. This includes whether you are at risk for heart disease, osteoporosis, or breast cancer. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Menopause +What is (are) Scabies ?,"Scabies is an itchy skin condition caused by the microscopic mite Sarcoptes scabei. It is common all over the world, and can affect anyone. Scabies spreads quickly in crowded conditions where there is frequent skin-to-skin contact between people. Hospitals, child-care centers, and nursing homes are examples. Scabies can easily infect sex partners and other household members. Sharing clothes, towels, and bedding can sometimes spread scabies. This can happen much more easily when the infested person has crusted scabies. You cannot get scabies from a pet. Pets get a different mite infection called mange. Symptoms are - Pimple-like irritations or a rash - Intense itching, especially at night - Sores caused by scratching Your health care provider diagnoses scabies by looking at the skin rash and finding burrows in the skin. Several lotions are available to treat scabies. The infected person's clothes, bedding and towels should be washed in hot water and dried in a hot dryer. Treatment is also recommended for household members and sexual partners. Centers for Disease Control and Prevention",MPlusHealthTopics,Scabies +Do you have information about Medicare,"Summary : Medicare is the U.S. government's health insurance program for people age 65 or older. Some people under age 65 can qualify for Medicare, too. They include those with disabilities, permanent kidney failure, or amyotrophic lateral sclerosis. Medicare helps with the cost of health care. It does not cover all medical expenses or the cost of most long-term care. The program has four parts: - Part A is hospital insurance - Part B helps pay for medical services that Part A doesn't cover - Part C is called Medicare Advantage. If you have Parts A and B, you can choose this option to receive all of your health care through a provider organization, like an HMO. - Part D is prescription drug coverage. It helps pay for some medicines.",MPlusHealthTopics,Medicare +Do you have information about Hormone Replacement Therapy,"Summary : Menopause is the time in a woman's life when her period stops. It is a normal part of aging. In the years before and during menopause, the levels of female hormones can go up and down. This can cause symptoms such as hot flashes and vaginal dryness. Some women take hormone replacement therapy (HRT), also called menopausal hormone therapy, to relieve these symptoms. HRT may also protect against osteoporosis. However, HRT also has risks. It can increase your risk of breast cancer, heart disease, and stroke. Certain types of HRT have a higher risk, and each woman's own risks can vary depending upon her health history and lifestyle. You and your health care provider need to discuss the risks and benefits for you. If you do decide to take HRT, it should be the lowest dose that helps and for the shortest time needed. Taking hormones should be re-evaluated every six months. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Hormone Replacement Therapy +What is (are) Blood Pressure Medicines ?,"High blood pressure, also called hypertension, usually has no symptoms. But it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. If you cannot control your high blood pressure through lifestyle changes such as losing weight and reducing sodium in your diet, you may need medicines. Blood pressure medicines work in different ways to lower blood pressure. Some remove extra fluid and salt from the body. Others slow down the heartbeat or relax and widen blood vessels. Often, two or more medicines work better than one. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Blood Pressure Medicines +Do you have information about CT Scans,"Summary : Computed tomography (CT) is a type of imaging. It uses special x-ray equipment to make cross-sectional pictures of your body. Doctors use CT scans to look for - Broken bones - Cancers - Blood clots - Signs of heart disease - Internal bleeding During a CT scan, you lie still on a table. The table slowly passes through the center of a large X-ray machine. The test is painless. During some tests you receive a contrast dye, which makes parts of your body show up better in the image. NIH: National Cancer Institute",MPlusHealthTopics,CT Scans +Do you have information about Talking With Your Doctor,"Summary : How well you and your doctor communicate with each other is one of the most important parts of getting good health care. Being prepared can help make the most of your visit. Here are some things you can bring: - Lists of your concerns, any allergies and all the medicines, herbs, or vitamins you take - A description of symptoms - when they started, what makes them better - A trusted friend or family member - A way to take notes during your appointment Make sure you understand your diagnosis and any treatments. Ask your health care provider to write down his or her instructions to you. If you still have trouble understanding, ask where you can go for more information.",MPlusHealthTopics,Talking With Your Doctor +Do you have information about Prostate Cancer Screening,"Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. Researchers are studying different tests to find those with the fewest risks and most benefits. One test is the digital rectal exam (DRE). The doctor or nurse inserts a lubricated, gloved finger into your rectum to feel the prostate for lumps or anything unusual. Another test is the prostate-specific antigen (PSA) blood test. Your PSA level may be high if you have prostate cancer. It can also be high if you have an enlarged prostate (BPH) or other prostate problems. If your screening results are abnormal, your doctor may do more tests, such as an ultrasound, MRI, or a biopsy. Prostate cancer screening has risks: - Finding prostate cancer may not improve your health or help you live longer - The results can sometimes be wrong - Follow-up tests, such as a biopsy, may have complications You and your doctor should discuss your risk for prostate cancer, the pros and cons of the screening tests, and whether you should get them.",MPlusHealthTopics,Prostate Cancer Screening +What is (are) Mobility Aids ?,"Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include - Crutches - Canes - Walkers - Wheelchairs - Motorized scooters You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or knee, you may need crutches. You may need a wheelchair or a scooter if an injury or disease has left you unable to walk. Choosing these devices takes time and research. You should be fitted for crutches, canes and walkers. If they fit, these devices give you support, but if they don't fit, they can be uncomfortable and unsafe.",MPlusHealthTopics,Mobility Aids +What is (are) Rett Syndrome ?,"Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include - Loss of speech - Loss of hand movements such as grasping - Compulsive movements such as hand wringing - Balance problems - Breathing problems - Behavior problems - Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Rett Syndrome +What is (are) Genital Herpes ?,"Genital herpes is a sexually transmitted disease (STD) caused by a herpes simplex virus (HSV). It can cause sores on your genital or rectal area, buttocks, and thighs. You can get it from having sex, even oral sex. The virus can spread even when sores are not present. Mothers can also infect their babies during childbirth. Symptoms of herpes are called outbreaks. You usually get sores near the area where the virus has entered the body. They turn into blisters, become itchy and painful, and then heal. Sometimes people do not know they have herpes because they have no symptoms or very mild symptoms. The virus can be more serious in newborn babies or in people with weak immune systems. Most people have outbreaks several times a year. Over time, you get them less often and the symptoms become milder. The virus stays in your body for life. Medicines do not cure genital herpes, but they can help your body fight the virus. This can help lessen symptoms, decrease outbreaks, and lower the risk of passing the virus to others. Correct usage of latex condoms can reduce, but not eliminate, the risk of catching or spreading herpes. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Genital Herpes +What is (are) Neurofibromatosis ?,"Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: - Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. - Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. - Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Neurofibromatosis +What is (are) COPD ?,"COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it. At first, COPD may cause no symptoms or only mild symptoms. As the disease gets worse, symptoms usually become more severe. They include - A cough that produces a lot of mucus - Shortness of breath, especially with physical activity - Wheezing - Chest tightness Doctors use lung function tests, imaging tests, and blood tests to diagnose COPD. There is no cure. Treatments may relieve symptoms. They include medicines, oxygen therapy, surgery, or a lung transplant. Quitting smoking is the most important step you can take to treat COPD. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,COPD +What is (are) Multiple Myeloma ?,"Multiple myeloma is a cancer that begins in plasma cells, a type of white blood cell. These cells are part of your immune system, which helps protect the body from germs and other harmful substances. In time, myeloma cells collect in the bone marrow and in the solid parts of bones. No one knows the exact causes of multiple myeloma, but it is more common in older people and African Americans. It can run in families. Common symptoms may include - Bone pain, often in the back or ribs - Broken bones - Weakness or fatigue - Weight loss - Frequent infections and fevers - Feeling very thirsty - Frequent urination Doctors diagnose multiple myeloma using lab tests, imaging tests, and a bone marrow biopsy. Your treatment depends on how advanced the disease is and whether you have symptoms. If you have no symptoms, you may not need treatment right away. If you have symptoms, you may have chemotherapy, stem cell transplantation, radiation, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Multiple Myeloma +Do you have information about Child Nutrition,"Summary : A healthy diet helps children grow and learn. It also helps prevent obesity and weight-related diseases, such as diabetes. To give your child a nutritious diet - Make half of what is on your child's plate fruits and vegetables - Choose healthy sources of protein, such as lean meat, nuts, and eggs - Serve whole-grain breads and cereals because they are high in fiber. Reduce refined grains. - Broil, grill, or steam foods instead of frying them - Limit fast food and junk food - Offer water or milk instead of sugary fruit drinks and sodas Learn about your children's nutrient requirements. Some of them, such as the requirements for iron and calcium, change as your child ages. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Child Nutrition +What is (are) Cardiomyopathy ?,"Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including - Heart failure - Abnormal heart rhythms - Heart valve problems - Sudden cardiac arrest Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Cardiomyopathy +What is (are) Tuberous Sclerosis ?,"Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include - Skin problems, such as light patches and thickened skin - Seizures - Behavior problems - Intellectual disabilities - Kidney problems Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening. Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Tuberous Sclerosis +What is (are) Walking Problems ?,"We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: - Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet - Movement disorders such as Parkinson's disease - Diseases such as arthritis or multiple sclerosis - Vision or balance problems Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.",MPlusHealthTopics,Walking Problems +Do you have information about Blood Sugar,"Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy. Diabetes is a disease in which your blood sugar levels are too high. Over time, having too much glucose in your blood can cause serious problems. Even if you don't have diabetes, sometimes you may have problems with blood sugar that is too low or too high. Keeping a regular schedule of eating, activity, and taking any medicines you need can help. If you do have diabetes, it is very important to keep your blood sugar numbers in your target range. You may need to check your blood sugar several times each day. Your health care provider will also do a blood test called an A1C. It checks your average blood sugar level over the past three months. If your blood sugar is too high, you may need to take medicines and/or follow a special diet. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Blood Sugar +What is (are) Fetal Alcohol Spectrum Disorders ?,"Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with - Learning and remembering - Understanding and following directions - Controlling emotions - Communicating and socializing - Daily life skills, such as feeding and bathing Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child. Centers for Disease Control and Prevention",MPlusHealthTopics,Fetal Alcohol Spectrum Disorders +Do you have information about Bone Marrow Transplantation,"Summary : Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into red blood cells, which carry oxygen throughout the body, white blood cells, which fight infections, and platelets, which help the blood to clot. A bone marrow transplant is a procedure that replaces a person's faulty bone marrow stem cells. Doctors use these transplants to treat people with certain diseases, such as - Leukemia - Severe blood diseases such as thalassemias, aplastic anemia, and sickle cell anemia - Multiple myeloma - Certain immune deficiency diseases Before you have a transplant, you need to get high doses of chemotherapy and possibly radiation. This destroys the faulty stem cells in your bone marrow. It also suppresses your body's immune system so that it won't attack the new stem cells after the transplant. In some cases, you can donate your own bone marrow stem cells in advance. The cells are saved and then used later on. Or you can get cells from a donor. The donor might be a family member or unrelated person. Bone marrow transplantation has serious risks. Some complications can be life-threatening. But for some people, it is the best hope for a cure or a longer life. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Bone Marrow Transplantation +Do you have information about Diabetes Medicines,"Summary : Diabetes means your blood glucose, or blood sugar, levels are too high. If you can't control your diabetes with wise food choices and physical activity, you may need diabetes medicines. The kind of medicine you take depends on your type of diabetes, your schedule, and your other health conditions. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. If you have type 1 diabetes, you will need to take insulin. Type 2 diabetes, the most common type, can start when the body doesn't use insulin as it should. If your body can't keep up with the need for insulin, you may need to take pills. Along with meal planning and physical activity, diabetes pills help people with type 2 diabetes or gestational diabetes keep their blood glucose levels on target. Several kinds of pills are available. Each works in a different way. Many people take two or three kinds of pills. Some people take combination pills. Combination pills contain two kinds of diabetes medicine in one tablet. Some people take pills and insulin. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes Medicines +Do you have information about Hormones,"Summary : Hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work slowly, over time, and affect many different processes, including - Growth and development - Metabolism - how your body gets energy from the foods you eat - Sexual function - Reproduction - Mood Endocrine glands, which are special groups of cells, make hormones. The major endocrine glands are the pituitary, pineal, thymus, thyroid, adrenal glands, and pancreas. In addition, men produce hormones in their testes and women produce them in their ovaries. Hormones are powerful. It takes only a tiny amount to cause big changes in cells or even your whole body. That is why too much or too little of a certain hormone can be serious. Laboratory tests can measure the hormone levels in your blood, urine, or saliva. Your health care provider may perform these tests if you have symptoms of a hormone disorder. Home pregnancy tests are similar - they test for pregnancy hormones in your urine.",MPlusHealthTopics,Hormones +What is (are) Fistulas ?,"A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries. Some people are born with a fistula. Other common causes of fistulas include - Complications from surgery - Injury - Infection - Diseases, such as Crohn's disease or ulcerative colitis Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery.",MPlusHealthTopics,Fistulas +What is (are) Ear Infections ?,"Ear infections are the most common reason parents bring their child to a doctor. Three out of four children will have at least one ear infection by their third birthday. Adults can also get ear infections, but they are less common. The infection usually affects the middle ear and is called otitis media. The tubes inside the ears become clogged with fluid and mucus. This can affect hearing, because sound cannot get through all that fluid. If your child isn't old enough to say ""My ear hurts,"" here are a few things to look for - Tugging at ears - Crying more than usual - Fluid draining from the ear - Trouble sleeping - Balance difficulties - Hearing problems Your health care provider will diagnose an ear infection by looking inside the ear with an instrument called an otoscope. Often, ear infections go away on their own. Your health care provider may recommend pain relievers. Severe infections and infections in young babies may require antibiotics. Children who get infections often may need surgery to place small tubes inside their ears. The tubes relieve pressure in the ears so that the child can hear again. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Ear Infections +What is (are) Pressure Sores ?,"Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. Pressure sores can cause serious infections, some of which are life-threatening. They can be a problem for people in nursing homes. You can prevent the sores by - Keeping skin clean and dry - Changing position every two hours - Using pillows and products that relieve pressure Pressure sores have a variety of treatments. Advanced sores are slow to heal, so early treatment is best.",MPlusHealthTopics,Pressure Sores +Do you have information about Mastectomy,"Summary : A mastectomy is surgery to remove a breast or part of a breast. It is usually done to treat breast cancer. Types of breast surgery include - Total (simple) mastectomy - removal of breast tissue and nipple - Modified radical mastectomy - removal of the breast, most of the lymph nodes under the arm, and often the lining over the chest muscles - Lumpectomy - surgery to remove the tumor and a small amount of normal tissue around it Which surgery you have depends on the stage of cancer, size of the tumor, size of the breast, and whether the lymph nodes are involved. Many women have breast reconstruction to rebuild the breast after a mastectomy. Sometimes mastectomy is done to prevent breast cancer. Only high-risk patients have this type of surgery. NIH: National Cancer Institute",MPlusHealthTopics,Mastectomy +Do you have information about Advance Directives,"Summary : What kind of medical care would you want if you were too ill or hurt to express your wishes? Advance directives are legal documents that allow you to spell out your decisions about end-of-life care ahead of time. They give you a way to tell your wishes to family, friends, and health care professionals and to avoid confusion later on. A living will tells which treatments you want if you are dying or permanently unconscious. You can accept or refuse medical care. You might want to include instructions on - The use of dialysis and breathing machines - If you want to be resuscitated if your breathing or heartbeat stops - Tube feeding - Organ or tissue donation A durable power of attorney for health care is a document that names your health care proxy. Your proxy is someone you trust to make health decisions for you if you are unable to do so. NIH: National Cancer Institute",MPlusHealthTopics,Advance Directives +Do you have information about Fire Safety,"Summary : Preventing fires is an important part of fire safety. In the United States, cooking is the main cause of home fires. Cigarettes are a big risk too - they are the leading cause of fire deaths. Here are some fire prevention tips: - Don't leave the stove or oven unattended when they are on - Don't let children use kitchen appliances unsupervised - Don't smoke in bed - Make sure your electrical appliances and cords are in good condition It is also important to be prepared in case there is a fire. Make sure that you have working smoke detectors on every floor and in every bedroom. You should also have fire extinguishers on every floor and in your kitchen. Make and practice an escape plan in case the main exit is blocked.",MPlusHealthTopics,Fire Safety +What is (are) Chikungunya ?,"Chikungunya is a virus that spread by the same kinds of mosquitoes that spread dengue and Zika virus. Rarely, it can spread from mother to newborn around the time of birth. It may also possibly spread through infected blood. There have been outbreaks of chikungunya virus in Africa, Asia, Europe, the Indian and Pacific Oceans, the Caribbean, and Central and South America. Most people who are infected will have symptoms, which can be severe. They usually start 3-7 days after being bitten by an infected mosquito. The most common symptoms are fever and joint pain. Other symptoms may include headache, muscle pain, joint swelling, and rash. Most people feel better within a week. In some cases, however, the joint pain may last for months. People at risk for more severe disease include newborns, older adults, and people with diseases such as high blood pressure, diabetes, or heart disease. A blood test can show whether you have chikungunya virus. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking non-aspirin pain relievers might help. The best way to prevent chikungunya infection is to avoid mosquito bites: - Use insect repellent - Wear clothes that cover your arms, legs, and feet - Stay in places that have air conditioning or that use window and door screens Centers for Disease Control and Prevention",MPlusHealthTopics,Chikungunya +What is (are) Testicular Disorders ?,"Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports. You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.",MPlusHealthTopics,Testicular Disorders +What is (are) Neck Injuries and Disorders ?,"Any part of your neck - muscles, bones, joints, tendons, ligaments, or nerves - can cause neck problems. Neck pain is very common. Pain may also come from your shoulder, jaw, head, or upper arms. Muscle strain or tension often causes neck pain. The problem is usually overuse, such as from sitting at a computer for too long. Sometimes you can strain your neck muscles from sleeping in an awkward position or overdoing it during exercise. Falls or accidents, including car accidents, are another common cause of neck pain. Whiplash, a soft tissue injury to the neck, is also called neck sprain or strain. Treatment depends on the cause, but may include applying ice, taking pain relievers, getting physical therapy or wearing a cervical collar. You rarely need surgery.",MPlusHealthTopics,Neck Injuries and Disorders +What is (are) Salivary Gland Cancer ?,"Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. Salivary gland cancer is a type of head and neck cancer. It is rare. It may not cause any symptoms, or you could notice - A lump in your ear, cheek, jaw, lip, or inside the mouth - Fluid draining from your ear - Trouble swallowing or opening the mouth widely - Numbness, weakness, or pain in your face Doctors diagnose salivary gland cancer using a physical exam, imaging tests, and a biopsy. Treatment can include surgery, radiation therapy, and/or chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Salivary Gland Cancer +Do you have information about Over-the-Counter Medicines,"Summary : Over-the-counter (OTC) medicines are drugs you can buy without a prescription. Some OTC medicines relieve aches, pains and itches. Some prevent or cure diseases, like tooth decay and athlete's foot. Others help manage recurring problems, like migraines. In the United States, the Food and Drug Administration decides whether a medicine is safe enough to sell over-the-counter. Taking OTC medicines still has risks. Some interact with other medicines, supplements, foods or drinks. Others cause problems for people with certain medical conditions. If you're pregnant, talk to your health care provider before taking any medicines. It is important to take medicines correctly, and be careful when giving them to children. More medicine does not necessarily mean better. You should never take OTC medicines longer or in higher doses than the label recommends. If your symptoms don't go away, it's a clear signal that it's time to see your healthcare provider. Food and Drug Administration",MPlusHealthTopics,Over-the-Counter Medicines +What is (are) Hepatitis C ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis C, is caused by the hepatitis C virus (HCV). It usually spreads through contact with infected blood. It can also spread through sex with an infected person and from mother to baby during childbirth. Most people who are infected with hepatitis C don't have any symptoms for years. If you do get symptoms, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. A blood test can tell if you have it. Usually, hepatitis C does not get better by itself. The infection can last a lifetime and may lead to scarring of the liver or liver cancer. Medicines sometimes help, but side effects can be a problem. Serious cases may need a liver transplant. There is no vaccine for HCV. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hepatitis C +What is (are) Ovarian Cancer ?,"The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond. Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. The sooner ovarian cancer is found and treated, the better your chance for recovery. But ovarian cancer is hard to detect early. Women with ovarian cancer may have no symptoms or just mild symptoms until the disease is in an advanced stage. Then it is hard to treat. Symptoms may include - A heavy feeling in the pelvis - Pain in the lower abdomen - Bleeding from the vagina - Weight gain or loss - Abnormal periods - Unexplained back pain that gets worse - Gas, nausea, vomiting, or loss of appetite To diagnose ovarian cancer, doctors do one or more tests. They include a physical exam, a pelvic exam, lab tests, ultrasound, or a biopsy. Treatment is usually surgery followed by chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Ovarian Cancer +What is (are) Pheochromocytoma ?,"Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as - Headaches - Sweating - Pounding of the heart - Being shaky - Being extremely pale Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones. Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Pheochromocytoma +Do you have information about Sports Safety,"Summary : Playing sports can be fun, but it can also be dangerous if you are not careful. You can help prevent injuries by - Getting a physical to make sure you are healthy before you start playing your sport - Wearing the right shoes, gear, and equipment - Drinking lots of water - Warming up and stretching If you have already hurt yourself playing a sport, make sure you recover completely before you start up again. If possible, protect the injured part of your body with padding, a brace, or special equipment. When you do start playing again, start slowly.",MPlusHealthTopics,Sports Safety +What is (are) Phenylketonuria ?,"Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Phenylketonuria +Do you have information about Cosmetic Dentistry,"Summary : If you have stained, broken or uneven teeth, cosmetic dentistry can help. Cosmetic dentistry is different from orthodontic treatment, which can straighten your teeth with braces or other devices. Cosmetic dental procedures include - Bleaching to make teeth whiter - Repairing chips or rough spots with fillings that match your teeth - Filling cavities with tooth-colored materials - Reshaping teeth that don't match the others - Closing gaps between teeth - Covering broken teeth with porcelain crowns",MPlusHealthTopics,Cosmetic Dentistry +Do you have information about Health Literacy,"Summary : Health literacy refers to how well a person can get the health information and services that they need, and how well they understand them. It is also about using them to make good health decisions. It involves differences that people have in areas such as - Access to information that they can understand - Skills, such as finding that information, communicating with health care providers, living a healthy lifestyle, and managing a disease - Knowledge of medical words, and of how their healthcare system works - Abilities, such as physical or mental limitations - Personal factors, such as age, education, language abilities, and culture More than 90 million adults in the United States have low health literacy. It affects their ability to make health decisions. This can harm their health. They may have trouble managing chronic diseases, and leading a healthy lifestyle. They may go to the hospital more often, and have poorer health overall. NIH: National Institutes of Health",MPlusHealthTopics,Health Literacy +What is (are) Adrenal Gland Cancer ?,"Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include - Adrenocortical carcinoma - cancer in the outer part of the gland - Neuroblastoma, a type of childhood cancer - Pheochromocytoma - a rare tumor that is usually benign Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.",MPlusHealthTopics,Adrenal Gland Cancer +Do you have information about Bone Density,"Summary : Strong bones are important for your health. A bone mineral density (BMD) test is the best way to measure your bone health. It compares your bone density, or mass, to that of a healthy person who is the same age and sex as you are. It can show - Whether you have osteoporosis, a disease that makes your bones weak - Your risk for breaking bones - Whether your osteoporosis treatment is working Low bone mass that is not low enough to be osteoporosis is sometimes called osteopenia. Causes of low bone mass include family history, not developing good bone mass when you are young, and certain conditions or medicines. Not everyone who has low bone mass gets osteoporosis, but they are at higher risk for getting it. If you have low bone mass, there are things you can do to help slow down bone loss. These include eating foods rich in calcium and vitamin D and doing weight-bearing exercise such as walking, tennis, or dancing. In some cases, your doctor may prescribe medicines to prevent osteoporosis. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Bone Density +Do you have information about Radiation Emergencies,"Summary : Radiation is a type of energy. People are exposed to small amounts of radiation every day from sources such as sunlight. A radiation emergency would involve larger amounts of radiation and could be caused by - Dirty bombs - a mix of explosives with radioactive powder - Fallout from a nuclear bomb - Accidental release from a nuclear reactor or a nuclear weapons plant A lot of radiation over a short period can cause burns or radiation sickness. If the exposure is large enough, it can cause premature aging or even death. Although there are no guarantees of safety during a radiation emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention",MPlusHealthTopics,Radiation Emergencies +What is (are) Sports Injuries ?,"Exercising is good for you, but sometimes you can injure yourself when you play sports or exercise. Accidents, poor training practices, or improper gear can cause them. Some people get hurt because they are not in shape. Not warming up or stretching enough can also lead to injuries. The most common sports injuries are - Sprains and strains - Knee injuries - Swollen muscles - Achilles tendon injuries - Pain along the shin bone - Rotator cuff injuries - Fractures - Dislocations If you get hurt, stop playing. Continuing to play or exercise can cause more harm. Treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Sports Injuries +Do you have information about Medicines,"Summary : You may need to take medicines every day, or only once in a while. Either way, you want to make sure that the medicines are safe and will help you get better. In the United States, the Food and Drug Administration is in charge of assuring the safety and effectiveness of both prescription and over-the-counter medicines. Even safe drugs can cause unwanted side effects or interactions with food or other medicines you may be taking. They may not be safe during pregnancy. To reduce the risk of reactions and make sure that you get better, it is important for you to take your medicines correctly and be careful when giving medicines to children.",MPlusHealthTopics,Medicines +What is (are) Childbirth ?,"When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows. Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Childbirth +What is (are) Neuroblastoma ?,"Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are - A lump in the abdomen, neck or chest - Bulging eyes - Dark circles around the eyes - Bone pain - Swollen stomach and trouble breathing in babies - Painless, bluish lumps under the skin in babies - Inability to move a body part Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute",MPlusHealthTopics,Neuroblastoma +What is (are) Peritoneal Disorders ?,"Your peritoneum is the tissue that lines your abdominal wall and covers most of the organs in your abdomen. A liquid, peritoneal fluid, lubricates the surface of this tissue. Disorders of the peritoneum are not common. They include - Peritonitis - an inflammation of the peritoneum - Cancer - Complications from peritoneal dialysis Your doctor may use imaging tests or lab tests to analyze the peritoneal fluid to diagnose the problem. Treatment of peritoneal disorders depends on the cause.",MPlusHealthTopics,Peritoneal Disorders +What is (are) Arteriovenous Malformations ?,"Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause is not known, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Arteriovenous Malformations +What is (are) Bone Diseases ?,"Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include - Low bone density and osteoporosis, which make your bones weak and more likely to break - Osteogenesis imperfecta makes your bones brittle - Paget's disease of bone makes them weak - Bones can also develop cancer and infections - Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Bone Diseases +What is (are) Legionnaires' Disease ?,"Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for large buildings. The bacteria don't spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes muscle aches and headaches. Other types of pneumonia have similar symptoms. You will probably need a chest x-ray to diagnose the pneumonia. Lab tests can detect the specific bacteria that cause Legionnaires' disease. Most people exposed to the bacteria do not become sick. You are more likely to get sick if you - Are older than 50 - Smoke - Have a chronic lung disease - Have a weak immune system Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment. Centers for Disease Control and Prevention",MPlusHealthTopics,Legionnaires' Disease +What is (are) Rabies ?,"Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal. In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. Once the symptoms begin, the disease is usually fatal. A series of shots can prevent rabies in people exposed to the virus. You need to get them right away. If an animal bites you, wash the wound well; then get medical care. To help prevent rabies - Vaccinate your pet. Rabies vaccines are available for dogs, cats and farm animals - Don't let pets roam - Don't approach stray animals. Animals with rabies might be aggressive and vicious, or tired and weak Centers for Disease Control and Prevention",MPlusHealthTopics,Rabies +Do you have information about Dialysis,"Summary : When your kidneys are healthy, they clean your blood. They also make hormones that keep your bones strong and your blood healthy. When your kidneys fail, you need treatment to replace the work your kidneys used to do. Unless you have a kidney transplant, you will need a treatment called dialysis. There are two main types of dialysis. Both types filter your blood to rid your body of harmful wastes, extra salt, and water. - Hemodialysis uses a machine. It is sometimes called an artificial kidney. You usually go to a special clinic for treatments several times a week. - Peritoneal dialysis uses the lining of your abdomen, called the peritoneal membrane, to filter your blood. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Dialysis +What is (are) Reproductive Hazards ?,"Both the male and female reproductive systems play a role in pregnancy. Problems with these systems can affect fertility and the ability to have children. Something that affects reproductive health is called a reproductive hazard. Examples include: - Radiation - Metals such as lead and mercury - Chemicals such as pesticides - Cigarettes - Some viruses - Alcohol For men, a reproductive hazard can affect the sperm. For a woman, a reproductive hazard can cause different effects during pregnancy, depending on when she is exposed. During the first 3 months of pregnancy, it might cause a birth defect or a miscarriage. During the last 6 months of pregnancy, it could slow the growth of the fetus, affect the development of its brain, or cause premature labor.",MPlusHealthTopics,Reproductive Hazards +What is (are) Coronary Artery Disease ?,"Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death in the United States in both men and women. CAD happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due to the buildup of cholesterol and other material, called plaque, on their inner walls. This buildup is called atherosclerosis. As it grows, less blood can flow through the arteries. As a result, the heart muscle can't get the blood or oxygen it needs. This can lead to chest pain (angina) or a heart attack. Most heart attacks happen when a blood clot suddenly cuts off the hearts' blood supply, causing permanent heart damage. Over time, CAD can also weaken the heart muscle and contribute to heart failure and arrhythmias. Heart failure means the heart can't pump blood well to the rest of the body. Arrhythmias are changes in the normal beating rhythm of the heart. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Coronary Artery Disease +What is (are) Tongue Disorders ?,"Your tongue helps you taste, swallow, and chew. You also use it to speak. Your tongue is made up of many muscles. The upper surface contains your taste buds. Problems with the tongue include - Pain - Swelling - Changes in color or texture - Abnormal movement or difficulty moving the tongue - Taste problems These problems can have many different causes. Treatment depends on the underlying problem.",MPlusHealthTopics,Tongue Disorders +What is (are) Child Sexual Abuse ?,"Sexual abuse is one form of child abuse. It includes a wide range of actions between a child and an adult or older child. Often these involve body contact, but not always. Exposing one's genitals to children or pressuring them for sex is sexual abuse. Using a child for pornography is also sexual abuse. Most sexual abusers know the child they abuse. They may be family friends, neighbors or babysitters. About one-third of abusers are related to the child. Most abusers are men. If you think a child may have been abused, it's important to report it.",MPlusHealthTopics,Child Sexual Abuse +Do you have information about Toddler Health,"Summary : Most young children get sick. It is hard for parents to know what is serious. You can learn what the common warning signs are. In the end, trust your intuition. If you are worried about your toddler, call your health care provider right away. Well-child visits are important to your toddler's health. Toddlers will get their recommended immunizations during these visits. Routine exams and screenings help you and your kids prevent and treat health problems as well as chart their growth and development.",MPlusHealthTopics,Toddler Health +What is (are) Complex Regional Pain Syndrome ?,"Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. It may happen after an injury, either to a nerve or to tissue in the affected area. Rest and time may only make it worse. Symptoms in the affected area are - Dramatic changes in skin temperature, color, or texture - Intense burning pain - Extreme skin sensitivity - Swelling and stiffness in affected joints - Decreased ability to move the affected body part The cause of CRPS is unknown. There is no specific diagnostic test. Your doctor will diagnose CRPS based on your signs and symptoms. There is no cure. It can get worse over time, and may spread to other parts of the body. Occasionally it goes away, either temporarily or for good. Treatment focuses on relieving the pain, and can include medicines, physical therapy, and nerve blocks. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Complex Regional Pain Syndrome +What is (are) Acute Bronchitis ?,"Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. Most cases of acute bronchitis get better within several days. But your cough can last for several weeks after the infection is gone. The same viruses that cause colds and the flu often cause acute bronchitis. These viruses spread through the air when people cough, or though physical contact (for example, on unwashed hands). Being exposed to tobacco smoke, air pollution, dusts, vapors, and fumes can also cause acute bronchitis. Less often, bacteria can also cause acute bronchitis. To diagnose acute bronchitis, your health care provider will ask about your symptoms and listen to your breathing. You may also have other tests. Treatments include rest, fluids, and aspirin (for adults) or acetaminophen to treat fever. A humidifier or steam can also help. You may need inhaled medicine to open your airways if you are wheezing. Antibiotics won't help if the cause is viral. You may get antibiotics if the cause is bacterial. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Acute Bronchitis +What is (are) Pinkeye ?,"Conjunctivitis is the medical name for pink eye. It involves inflammation of the outer layer of the eye and inside of the eyelid. It can cause swelling, itching, burning, discharge, and redness. Causes include - Bacterial or viral infection - Allergies - Substances that cause irritation - Contact lens products, eye drops, or eye ointments Pinkeye usually does not affect vision. Infectious pink eye can easily spread from one person to another. The infection will clear in most cases without medical care, but bacterial pinkeye needs treatment with antibiotic eye drops or ointment. NIH: National Eye Institute",MPlusHealthTopics,Pinkeye +What is (are) Dislocations ?,"Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. Dislocated joints often are swollen, very painful and visibly out of place. You may not be able to move it. A dislocated joint is an emergency. If you have one, seek medical attention. Treatment depends on which joint you dislocate and the severity of the injury. It might include manipulations to reposition your bones, medicine, a splint or sling, and rehabilitation. When properly repositioned, a joint will usually function and move normally again in a few weeks. Once you dislocate a shoulder or kneecap, you are more likely to dislocate it again. Wearing protective gear during sports may help prevent dislocations.",MPlusHealthTopics,Dislocations +What is (are) Alzheimer's Disease ?,"Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of the brain that control thought, memory and language. People with AD may have trouble remembering things that happened recently or names of people they know. A related problem, mild cognitive impairment (MCI), causes more memory problems than normal for people of the same age. Many, but not all, people with MCI will develop AD. In AD, over time, symptoms get worse. People may not recognize family members. They may have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. This can cause great stress for family members who must care for them. AD usually begins after age 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time. NIH: National Institute on Aging",MPlusHealthTopics,Alzheimer's Disease +Do you have information about Mental Health,"Summary : Mental health includes our emotional, psychological, and social well-being. It affects how we think, feel and act as we cope with life. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood. Mental illnesses are serious disorders which can affect your thinking, mood, and behavior. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. Mental disorders are common, but treatments are available.",MPlusHealthTopics,Mental Health +What is (are) Migraine ?,"If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. They may also become nauseated and vomit. Migraine is three times more common in women than in men. Some people can tell when they are about to have a migraine because they see flashing lights or zigzag lines or they temporarily lose their vision. Many things can trigger a migraine. These include - Anxiety - Stress - Lack of food or sleep - Exposure to light - Hormonal changes (in women) Doctors used to believe migraines were linked to the opening and narrowing of blood vessels in the head. Now they believe the cause is related to genes that control the activity of some brain cells. Medicines can help prevent migraine attacks or help relieve symptoms of attacks when they happen. For many people, treatments to relieve stress can also help. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Migraine +Do you have information about Blood,"Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. Red blood cells (RBC) deliver oxygen from your lungs to your tissues and organs. White blood cells (WBC) fight infection and are part of your body's defense system. Platelets help blood to clot when you have a cut or wound. Bone marrow, the spongy material inside your bones, makes new blood cells. Blood cells constantly die and your body makes new ones. Red blood cells live about 120 days, and platelets live about 6 days. Some white blood cells live less than a day, but others live much longer. Blood tests show whether the levels of substances in your blood are within a normal range. They help doctors check for certain diseases and conditions. They also help check the function of your organs and show how well treatments are working.Some of the most common blood tests are blood count tests, which measure the number, size, and shape of cells and platelets in the blood. Problems with your blood may include bleeding disorders, excessive clotting and platelet disorders. If you lose too much blood, you may need a transfusion.",MPlusHealthTopics,Blood +What is (are) Bad Breath ?,"There are many reasons why you might have bad breath. You can get it if you don't brush and floss regularly. Bacteria that build up in your mouth and between your teeth produce the bad odor. Other problems in your mouth, such as gum disease, dry mouth or cavities, may also cause it. Sinusitis or problems with your nose may be to blame. You can also have bad breath if you eat some foods, like raw onions, garlic or cabbage. And of course smoking causes its own bad aroma. Some diseases and medicines are associated with a specific breath odor. Having good dental habits, like brushing and flossing regularly, help fight bad breath. Mouthwashes, mints or chewing gum may make your breath fresher. If you have an underlying disorder, treating it may help eliminate the breath odor.",MPlusHealthTopics,Bad Breath +Do you have information about Medical Device Safety,"Summary : A medical device is any product used to diagnose, cure, or treat a condition, or to prevent disease. They range from small and simple, like a blood glucose meter, to large and complicated, like a ventilator. You might use one at home or at work, or you may need one in a hospital. To use medical devices safely - Know how your device works. Keep instructions close by - Understand and properly respond to device alarms - Have a back-up plan and supplies in the event of an emergency - Keep emergency numbers available and update them as needed - Educate your family and caregivers about your device Food and Drug Administration",MPlusHealthTopics,Medical Device Safety +What is (are) Zika Virus ?,"Zika is a virus that is spread by mosquitoes. A pregnant mother can pass it to her baby during pregnancy or around the time of birth. A man can spread it to his partner during sexual contact. There have also been reports that the virus has spread through blood transfusions. There have been outbreaks of Zika virus in Africa, Southeast Asia, the Pacific Islands, parts of the Caribbean, and Central and South America. Most people who get the virus do not get sick. One in five people do get symptoms, which can include a fever, rash, joint pain, and conjunctivitis (pinkeye). Symptoms are usually mild, and start 2 to 7 days after being bitten by an infected mosquito. A blood test can tell whether you have the infection. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking acetaminophen might help. Zika can cause microcephaly (a serious birth defect of the brain) and other problems in babies whose mothers were infected while pregnant. The Centers for Disease Control and Prevention recommends that pregnant women do not travel to areas where there is a Zika virus outbreak. If you do decide to travel, first talk to your doctor. You should also be careful to prevent mosquito bites: - Use insect repellent - Wear clothes that cover your arms, legs, and feet - Stay in places that have air conditioning or that use window and door screens Centers for Disease Control and Prevention",MPlusHealthTopics,Zika Virus +Do you have information about Sports Fitness,"Summary : Sports can be a great way to get in shape or stay that way. Having a specific goal can be a great motivator. Physically, you need strength and endurance. Your training will vary with your sport. You would not train the same way for pole vaulting as for swimming. You might, however, cross train. Cross training simply means that you include a variety of fitness activities in your program. Research shows that cross training builds stronger bones. Remember to listen to your body. If you frequently feel exhausted or you are in pain, you may be overdoing it. Injuries can be the result. And be sure that you use your body and your equipment safely. What you eat and drink is also important. Water is the most important nutrient for active people. Drink it before, during and after workouts.",MPlusHealthTopics,Sports Fitness +What is (are) Bladder Cancer ?,"The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include - Blood in your urine - A frequent urge to urinate - Pain when you urinate - Low back pain Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk. Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute",MPlusHealthTopics,Bladder Cancer +What is (are) Cryptosporidiosis ?,"Cryptosporidiosis (crypto) is an illness caused by a parasite. The parasite lives in soil, food and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. The most common symptom of crypto is watery diarrhea. Other symptoms include - Dehydration - Weight loss - Stomach cramps or pain - Fever - Nausea - Vomiting Most people with crypto get better with no treatment, but crypto can cause serious problems in people with weak immune systems such as in people with HIV/AIDS. To reduce your risk of crypto, wash your hands often, avoid water that may be infected, and wash or peel fresh fruits and vegetables before eating. Centers for Disease Control and Prevention",MPlusHealthTopics,Cryptosporidiosis +What is (are) Bedbugs ?,"Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bedbugs (called nymphs) are smaller and lighter in color. Bedbugs hide in a variety of places around the bed. They might also hide in the seams of chairs and couches, between cushions, and in the folds of curtains. They come out to feed about every five to ten days. But they can survive over a year without feeding. To prevent bedbugs in your home: - Check secondhand furniture for any signs of bedbugs before bringing it home. - Use a protective cover that encases mattresses and box springs. Check it regularly for holes. - Reduce clutter in your home so they have fewer places to hide. - Unpack directly into your washing machine after a trip and check your luggage carefully. When staying in hotels, put your suitcases on luggage racks instead of the floor. Check the mattress and headboard for signs of bedbugs. To get rid of bedbugs: - Wash and dry bedding and clothing at high temperatures. - Use mattress, box spring, and pillow encasements to trap bedbugs and help detect infestations. - Use pesticides if needed. Environmental Protection Agency",MPlusHealthTopics,Bedbugs +Do you have information about Hip Replacement,"Summary : Hip replacement is surgery for people with severe hip damage. The most common cause of damage is osteoarthritis. Osteoarthritis causes pain, swelling, and reduced motion in your joints. It can interfere with your daily activities. If other treatments such as physical therapy, pain medicines, and exercise haven't helped, hip replacement surgery might be an option for you. During a hip replacement operation, the surgeon removes damaged cartilage and bone from your hip joint and replaces them with new, man-made parts. A hip replacement can - Relieve pain - Help your hip joint work better - Improve walking and other movements The most common problem after surgery is hip dislocation. Because a man-made hip is smaller than the original joint, the ball can come out of its socket. The surgery can also cause blood clots and infections. With a hip replacement, you might need to avoid certain activities, such as jogging and high-impact sports. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Hip Replacement +What is (are) Dengue ?,"Dengue is an infection caused by a virus. You can get it if an infected mosquito bites you. Dengue does not spread from person to person. It is common in warm, wet areas of the world. Outbreaks occur in the rainy season. Dengue is rare in the United States. Symptoms include a high fever, headaches, joint and muscle pain, vomiting, and a rash. In some cases, dengue turns into dengue hemorrhagic fever, which causes bleeding from your nose, gums, or under your skin. It can also become dengue shock syndrome, which causes massive bleeding and shock. These forms of dengue are life-threatening. There is no specific treatment. Most people with dengue recover within 2 weeks. Until then, drinking lots of fluids, resting and taking non-aspirin fever-reducing medicines might help. People with the more severe forms of dengue usually need to go to the hospital and get fluids. To lower your risk when traveling to areas where dengue is found - Wear insect repellent with DEET - Wear clothes that cover your arms, legs and feet - Close unscreened doors and windows NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Dengue +What is (are) Peripheral Nerve Disorders ?,"Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include - Numbness - Pain - Burning or tingling - Muscle weakness - Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Peripheral Nerve Disorders +What is (are) Fibromyalgia ?,"Fibromyalgia is a disorder that causes muscle pain and fatigue. People with fibromyalgia have ""tender points"" on the body. Tender points are specific places on the neck, shoulders, back, hips, arms, and legs. These points hurt when pressure is put on them. People with fibromyalgia may also have other symptoms, such as - Trouble sleeping - Morning stiffness - Headaches - Painful menstrual periods - Tingling or numbness in hands and feet - Problems with thinking and memory (sometimes called ""fibro fog"") No one knows what causes fibromyalgia. Anyone can get it, but it is most common in middle-aged women. People with rheumatoid arthritis and other autoimmune diseases are particularly likely to develop fibromyalgia. There is no cure for fibromyalgia, but medicine can help you manage your symptoms. Getting enough sleep, exercising, and eating well may also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Fibromyalgia +What is (are) Guillain-Barre Syndrome ?,"Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS nerves connect your brain and spinal cord with the rest of your body. Damage to these nerves makes it hard for them to transmit signals. As a result, your muscles have trouble responding to your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, or a vaccination. The first symptom is usually weakness or a tingling feeling in your legs. The feeling can spread to your upper body. In severe cases, you become almost paralyzed. This is life-threatening. You might need a respirator to breathe. Symptoms usually worsen over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include nerve tests and a spinal tap. Most people recover. Recovery can take a few weeks to a few years. Treatment can help symptoms, and may include medicines or a procedure called plasma exchange. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Guillain-Barre Syndrome +What is (are) Corns and Calluses ?,"Corns and calluses are caused by pressure or friction on your skin. They often appear on feet where the bony parts of your feet rub against your shoes. Corns usually appear on the tops or sides of toes while calluses form on the soles of feet. Calluses also can appear on hands or other areas that are rubbed or pressed. Wearing shoes that fit better or using non-medicated pads may help. While bathing, gently rub the corn or callus with a washcloth or pumice stone to help reduce the size. To avoid infection, do not try to shave off the corn or callus. See your doctor, especially if you have diabetes or circulation problems. NIH: National Institute on Aging",MPlusHealthTopics,Corns and Calluses +What is (are) Fragile X Syndrome ?,"Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include - Intelligence problems, ranging from learning disabilities to severe intellectual disabilities - Social and emotional problems, such as aggression in boys or shyness in girls - Speech and language problems, especially in boys A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Fragile X Syndrome +What is (are) Vaginal Bleeding ?,"Menstruation, or period, is a woman's monthly bleeding. Abnormal vaginal bleeding is different from normal menstrual periods. It could be bleeding that is between periods, lasts several weeks, or happens before puberty or after menopause. Causes can include - Uterine fibroids or polyps - Hormone problems - Hormone pills, such as birth control pills and menopausal hormone therapy - Cancer of the cervix, ovaries, uterus or vagina - Thyroid problems Bleeding during pregnancy can have several different causes. It is not always a serious problem, but to be safe you should always contact your healthcare provider. Pelvic exams, blood tests and other procedures can help your healthcare provider diagnose the problem. Treatment depends on the cause.",MPlusHealthTopics,Vaginal Bleeding +What is (are) Foot Injuries and Disorders ?,"Each of your feet has 26 bones, 33 joints, and more than 100 tendons, muscles, and ligaments. No wonder a lot of things can go wrong. Here are a few common problems: - Bunions - hard, painful bumps on the big toe joint - Corns and calluses - thickened skin from friction or pressure - Plantar warts - warts on the soles of your feet - Fallen arches - also called flat feet Ill-fitting shoes often cause these problems. Aging and being overweight also increase your chances of having foot problems.",MPlusHealthTopics,Foot Injuries and Disorders +What is (are) Pelvic Inflammatory Disease ?,"Pelvic inflammatory disease (PID) is an infection and inflammation of the uterus, ovaries, and other female reproductive organs. It causes scarring in these organs. This can lead to infertility, ectopic pregnancy, pelvic pain, abscesses, and other serious problems. PID is the most common preventable cause of infertility in the United States. Gonorrhea and chlamydia, two sexually transmitted diseases, are the most common causes of PID. Other bacteria can also cause it. You are at greater risk if you - Are sexually active and younger than 25 - Have more than one sex partner - Douche Some women have no symptoms. Others have pain in the lower abdomen, fever, smelly vaginal discharge, irregular bleeding, and pain during intercourse or urination. Doctors diagnose PID with a physical exam, lab tests, and imaging tests. Antibiotics can cure PID. Early treatment is important. Waiting too long increases the risk of infertility. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Pelvic Inflammatory Disease +Do you have information about Children's Health,"Summary : Your child's health includes physical, mental and social well-being. Most parents know the basics of keeping children healthy, like offering them healthy foods, making sure they get enough sleep and exercise and insuring their safety. It is also important for children to get regular checkups with their health care provider. These visits are a chance to check your child's development. They are also a good time to catch or prevent problems. Other than checkups, school-age children should be seen for - Significant weight gain or loss - Sleep problems or change in behavior - Fever higher than 102 - Rashes or skin infections - Frequent sore throats - Breathing problems",MPlusHealthTopics,Children's Health +What is (are) Herpes Simplex ?,"Herpes is an infection that is caused by a herpes simplex virus (HSV). Oral herpes causes cold sores around the mouth or face. Genital herpes affects the genitals, buttocks or anal area. Genital herpes is a sexually transmitted disease (STD). It affects the genitals, buttocks or anal area. Other herpes infections can affect the eyes, skin, or other parts of the body. The virus can be dangerous in newborn babies or in people with weak immune systems. There are two types of HSV: - HSV type 1 most commonly causes cold sores. It can also cause genital herpes. - HSV type 2 is the usual cause of genital herpes, but it also can infect the mouth. HSV spreads through direct contact. Some people have no symptoms. Others get sores near the area where the virus has entered the body. They turn into blisters, become itchy and painful, and then heal. Most people have outbreaks several times a year. Over time, you get them less often. Medicines to help your body fight the virus can help lessen symptoms and decrease outbreaks.",MPlusHealthTopics,Herpes Simplex +What is (are) Cartilage Disorders ?,"Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. It also protects bones by preventing them from rubbing against each other. Injured, inflamed, or damaged cartilage can cause symptoms such as pain and limited movement. It can also lead to joint damage and deformity. Causes of cartilage problems include - Tears and injuries, such as sports injuries - Genetic factors - Other disorders, such as some types of arthritis Osteoarthritis results from breakdown of cartilage. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Cartilage Disorders +What is (are) Lymphatic Diseases ?,"The lymphatic system is a network of tissues and organs. It is made up of - Lymph - a fluid that contains white blood cells that defend against germs - Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. - Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.",MPlusHealthTopics,Lymphatic Diseases +What is (are) Irritable Bowel Syndrome ?,"Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation. Some have diarrhea. Others go back and forth between the two. Although IBS can cause a great deal of discomfort, it does not harm the intestines. IBS is common. It affects about twice as many women as men and is most often found in people younger than 45 years. No one knows the exact cause of IBS. There is no specific test for it. Your doctor may run tests to be sure you don't have other diseases. These tests may include stool sampling tests, blood tests, and x-rays. Your doctor may also do a test called a sigmoidoscopy or colonoscopy. Most people diagnosed with IBS can control their symptoms with diet, stress management, probiotics, and medicine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Irritable Bowel Syndrome +What is (are) Smallpox ?,"Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. Two research labs still keep small amounts of the virus. Experts fear bioterrorists could use the virus to spread disease. Smallpox spreads very easily from person to person. Symptoms are flu-like. They include - High fever - Fatigue - Headache - Backache - A rash with flat red sores There is no treatment. Fluids and medicines for pain or fever can help control symptoms. Most people recover, but some can die. Those who do recover may have severe scars. The U.S. stopped routine smallpox vaccinations in 1972. Military and other high-risk groups continue to get the vaccine. The U.S. has increased its supply of the vaccine in recent years. The vaccine makes some people sick, so doctors save it for those at highest risk of disease. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Smallpox +What is (are) Spine Injuries and Disorders ?,"Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include - Infections - Injuries - Tumors - Conditions, such as ankylosing spondylitis and scoliosis - Bone changes that come with age, such as spinal stenosis and herniated disks Spinal diseases often cause pain when bone changes put pressure on the spinal cord or nerves. They can also limit movement. Treatments differ by disease, but sometimes they include back braces and surgery.",MPlusHealthTopics,Spine Injuries and Disorders +Do you have information about Ebola,"Summary : Ebola hemorrhagic fever is caused by a virus. It is a severe and often fatal disease. It can affect humans and other primates. Researchers believe that the virus first spreads from an infected animal to a human. It can then spread from human to human through direct contact with a patient's blood or secretions. Symptoms of Ebola may appear anywhere from 2 to 21 days after exposure to the virus. Symptoms usually include - Fever - Headache - Joint and muscle aches - Weakness - Diarrhea - Vomiting - Stomach pain - Lack of appetite Other symptoms including rash, red eyes, and internal and external bleeding, may also occur. The early symptoms of Ebola are similar to other, more common, diseases. This makes it difficult to diagnose Ebola in someone who has been infected for only a few days. However, if a person has the early symptoms of Ebola and there is reason to suspect Ebola, the patient should be isolated. It is also important to notify public health professionals. Lab tests can confirm whether the patient has Ebola. There is no cure for Ebola. Treatment involves supportive care such as fluids, oxygen, and treatment of complications. Some people who get Ebola are able to recover, but many do not. Centers for Disease Control and Prevention",MPlusHealthTopics,Ebola +What is (are) Mental Disorders ?,"Mental disorders include a wide range of problems, including - Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias - Bipolar disorder - Depression - Mood disorders - Personality disorders - Psychotic disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders.",MPlusHealthTopics,Mental Disorders +What is (are) Chagas Disease ?,"Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. Infected blood-sucking bugs, sometimes called kissing bugs, spread it. When the bug bites you, usually on your face, it leaves behind infected waste. You can get the infection if you rub it in your eyes or nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood transfusion, a donated organ or from mother to baby during pregnancy. If you notice symptoms, they might include - Fever - Flu-like symptoms - A rash - A swollen eyelid These early symptoms usually go away. However, if you don't treat the infection, it stays in your body. Later, it can cause serious intestinal and heart problems. A physical exam and blood tests can diagnose it. You may also need tests to see whether the disease has affected your intestines and heart. Medicines can kill the parasite, especially early on. You can also treat related problems. For example, a pacemaker helps with certain heart complications. There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, you are at higher risk if you sleep outdoors or in poor housing conditions. It is important to use insecticides to prevent bites, and practice food safety. Centers for Disease Control and Prevention",MPlusHealthTopics,Chagas Disease +What is (are) GERD ?,"Your esophagus is the tube that carries food from your mouth to your stomach. Gastroesophageal reflux disease (GERD) happens when a muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. You may feel a burning in the chest or throat called heartburn. Sometimes, you can taste stomach fluid in the back of the mouth. If you have these symptoms more than twice a week, you may have GERD. You can also have GERD without having heartburn. Your symptoms could include a dry cough, asthma symptoms, or trouble swallowing. Anyone, including infants and children, can have GERD. If not treated, it can lead to more serious health problems. In some cases, you might need medicines or surgery. However, many people can improve their symptoms by - Avoiding alcohol and spicy, fatty or acidic foods that trigger heartburn - Eating smaller meals - Not eating close to bedtime - Losing weight if needed - Wearing loose-fitting clothes NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,GERD +Do you have information about Quitting Smoking,"Summary : Tobacco use is the most common preventable cause of death. About half of the people who don't quit smoking will die of smoking-related problems. Quitting smoking is important for your health. Soon after you quit, your circulation begins to improve, and your blood pressure starts to return to normal. Your sense of smell and taste return, and it's easier for you to breathe. In the long term, giving up tobacco can help you live longer. Your risk of getting cancer decreases with each year you stay smoke-free. Quitting is not easy. You may have short-term affects such as weight gain, irritability, and anxiety. Some people try several times before they succeed. There are many ways to quit smoking. Some people stop ""cold turkey."" Others benefit from step-by-step manuals, counseling, or medicines or products that help reduce nicotine addiction. Some people think that switching to e-cigarettes can help you quit smoking, but that has not been proven. Your health care provider can help you find the best way for you to quit. NIH: National Cancer Institute",MPlusHealthTopics,Quitting Smoking +Do you have information about Prenatal Testing,"Summary : Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your healthcare provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox. Throughout your pregnancy, your healthcare provider may suggest a number of other tests, too. Some tests are suggested for all women, such as screenings for gestational diabetes, Down syndrome, and HIV. Other tests might be offered based on your: - Age - Personal or family health history - Ethnic background - Results of routine tests Some tests are screening tests. They detect risks for or signs of possible health problems in you or your baby. Based on screening test results, your doctor might suggest diagnostic tests. Diagnostic tests confirm or rule out health problems in you or your baby. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Prenatal Testing +What is (are) Voice Disorders ?,"Voice is the sound made by air passing from your lungs through your larynx, or voice box. In your larynx are your vocal cords, two bands of muscle that vibrate to make sound. For most of us, our voices play a big part in who we are, what we do, and how we communicate. Like fingerprints, each person's voice is unique. Many things we do can injure our vocal cords. Talking too much, screaming, constantly clearing your throat, or smoking can make you hoarse. They can also lead to problems such as nodules, polyps, and sores on the vocal cords. Other causes of voice disorders include infections, upward movement of stomach acids into the throat, growths due to a virus, cancer, and diseases that paralyze the vocal cords. Signs that your voice isn't healthy include - Your voice has become hoarse or raspy - You've lost the ability to hit some high notes when singing - Your voice suddenly sounds deeper - Your throat often feels raw, achy, or strained - It's become an effort to talk Treatment for voice disorders varies depending on the cause. Most voice problems can be successfully treated when diagnosed early. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Voice Disorders +What is (are) Pancreatic Cancer ?,"The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. Pancreatic cancer usually begins in the cells that produce the juices. Some risk factors for developing pancreatic cancer include - Smoking - Long-term diabetes - Chronic pancreatitis - Certain hereditary disorders Pancreatic cancer is hard to catch early. It doesn't cause symptoms right away. When you do get symptoms, they are often vague or you may not notice them. They include yellowing of the skin and eyes, pain in the abdomen and back, weight loss and fatigue. Also, because the pancreas is hidden behind other organs, health care providers cannot see or feel the tumors during routine exams. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose it. Because it is often found late and it spreads quickly, pancreatic cancer can be hard to treat. Possible treatments include surgery, radiation, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Pancreatic Cancer +What is (are) Benign Tumors ?,"Tumors are abnormal growths in your body. They are made up of extra cells. Normally, cells grow and divide to form new cells as your body needs them. When cells grow old, they die, and new cells take their place. Sometimes, this process goes wrong. New cells form when your body does not need them, and old cells do not die when they should. When these extra cells form a mass, it is called a tumor. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Benign tumors grow only in one place. They cannot spread or invade other parts of your body. Even so, they can be dangerous if they press on vital organs, such as your brain. Treatment often involves surgery. Benign tumors usually don't grow back. NIH: National Cancer Institute",MPlusHealthTopics,Benign Tumors +What is (are) Rosacea ?,"Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults. In most cases, rosacea only affects the face. Symptoms can include - Frequent redness of the face, or flushing - Small, red lines under the skin - Acne - A swollen nose - Thick skin, usually on the forehead, chin, and cheeks - Red, dry, itchy eyes and sometimes vision problems No one knows what causes rosacea. You may be more likely to have it if you blush a lot or if rosacea runs in your family. Rosacea is not dangerous. There is no cure, but treatments can help. They include medicines and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Rosacea +What is (are) Eye Infections ?,"Your eyes can get infections from bacteria, fungi, or viruses. Eye infections can occur in different parts of the eye and can affect just one eye or both. Two common eye infections are - Conjunctivitis - also known as pinkeye. Conjunctivitis is often due to an infection. Children frequently get it, and it is very contagious. - Stye - a bump on the eyelid that happens when bacteria from your skin get into the hair follicle of an eyelash. Symptoms of eye infections may include redness, itching, swelling, discharge, pain, or problems with vision. Treatment depends on the cause of the infection and may include compresses, eye drops, creams, or antibiotics.",MPlusHealthTopics,Eye Infections +What is (are) Myasthenia Gravis ?,"Myasthenia gravis is disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Myasthenia Gravis +Do you have information about School Health,"Summary : Your child spends more time at school than anywhere else except home. Schools can have a major effect on children's health. Schools can teach children about health, and promote healthy behaviors. Physical education classes give children a chance to get exercise. Schools work to - Prevent risky behaviors such as alcohol and tobacco use, or bullying - Encourage healthy habits like exercise and healthy eating - Deal with specific health problems in students, such as asthma, obesity and infectious diseases The school building and environment should be a safe and healthy place for your child.",MPlusHealthTopics,School Health +What is (are) Enlarged Prostate (BPH) ?,"The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). Most men will get BPH as they get older. Symptoms often start after age 50. BPH is not cancer, and it does not seem to increase your chance of getting prostate cancer. But the early symptoms are the same. Check with your doctor if you have - A frequent and urgent need to urinate, especially at night - Trouble starting a urine stream or making more than a dribble - A urine stream that is weak, slow, or stops and starts several times - The feeling that you still have to go, even just after urinating - Small amounts of blood in your urine Severe BPH can cause serious problems over time, such as urinary tract infections, and bladder or kidney damage. If it is found early, you are less likely to develop these problems. Tests for BPH include a digital rectal exam, blood and imaging tests, a urine flow study, and examination with a scope called a cystoscope. Treatments include watchful waiting, medicines, nonsurgical procedures, and surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Enlarged Prostate (BPH) +What is (are) Stomach Disorders ?,"Your stomach is an organ between your esophagus and small intestine. It is where digestion of protein begins. The stomach has three tasks. It stores swallowed food. It mixes the food with stomach acids. Then it sends the mixture on to the small intestine. Most people have a problem with their stomach at one time or another. Indigestion and heartburn are common problems. You can relieve some stomach problems with over-the-counter medicines and lifestyle changes, such as avoiding fatty foods or eating more slowly. Other problems like peptic ulcers or GERD require medical attention. You should see a doctor if you have any of the following: - Blood when you have a bowel movement - Severe abdominal pain - Heartburn not relieved by antacids - Unintended weight loss - Ongoing vomiting or diarrhea NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Stomach Disorders +What is (are) Itching ?,"Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lice - Pregnancy - Rashes - Reactions to medicines To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention.",MPlusHealthTopics,Itching +Do you have information about Healthy Living,"Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke and other serious diseases: - Get the screening tests you need - Maintain a healthy weight - Eat a variety of healthy foods, and limit calories and saturated fat - Be physically active - Control your blood pressure and cholesterol - Don't smoke - Protect yourself from too much sun - Drink alcohol in moderation, or don't drink at all Agency for Healthcare Research and Quality",MPlusHealthTopics,Healthy Living +What is (are) Mesothelioma ?,"The tissue that lines your lungs, stomach, heart, and other organs is called mesothelium. Mesothelioma is a tumor of that tissue. It usually starts in the lungs, but can also start in the abdomen or other organs. It can be benign (not cancer) or malignant (cancer.) Malignant mesothelioma is a rare but serious type of cancer. Most people who get it have worked on jobs where they inhaled asbestos particles. After being exposed to asbestos, it usually takes a long time for the disease to form. Symptoms include - Trouble breathing - Pain under the rib cage - Pain, swelling, or lumps in the abdomen - Weight loss for no known reason Sometimes it is hard to tell the difference between malignant mesothelioma and lung cancer. Your doctor uses imaging tests and a biopsy to make the diagnosis. Malignant mesothelioma is often found when it is advanced. This makes it harder to treat. Treatment may include surgery, radiation, and/or chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Mesothelioma +What is (are) Bile Duct Diseases ?,"Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Different diseases can block the bile ducts and cause a problem with the flow of bile: - Gallstones, which can increase pressure in the gallbladder and cause a gallbladder attack. The pain usually lasts from one to several hours. - Cancer - Infections - Birth defects, such as biliary atresia. It is the most common reason for liver transplants in children in the United States. - Inflammation, which can cause scarring. Over time, this can lead to liver failure. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Bile Duct Diseases +Do you have information about Fluid and Electrolyte Balance,"Summary : Electrolytes are minerals in your body that have an electric charge. They are in your blood, urine and body fluids. Maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. Sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrolytes. You get them from the foods you eat and the fluids you drink. Levels of electrolytes in your body can become too low or too high. That can happen when the amount of water in your body changes, causing dehydration or overhydration. Causes include some medicines, vomiting, diarrhea, sweating or kidney problems. Problems most often occur with levels of sodium, potassium or calcium.",MPlusHealthTopics,Fluid and Electrolyte Balance +Do you have information about Infection Control,"Summary : Every year, lives are lost because of the spread of infections in hospitals. Health care workers can take steps to prevent the spread of infectious diseases. These steps are part of infection control. Proper hand washing is the most effective way to prevent the spread of infections in hospitals. If you are a patient, don't be afraid to remind friends, family and health care providers to wash their hands before getting close to you. Other steps health care workers can take include - Covering coughs and sneezes - Staying up-to-date with immunizations - Using gloves, masks and protective clothing - Making tissues and hand cleaners available - Following hospital guidelines when dealing with blood or contaminated items",MPlusHealthTopics,Infection Control +Do you have information about Potassium,"Summary : Potassium is a mineral that the body needs to work normally. It helps nerves and muscles communicate. It also helps move nutrients into cells and waste products out of cells. A diet rich in potassium helps to offset some of sodium's harmful effects on blood pressure. Most people get all the potassium they need from what they eat and drink. Sources of potassium in the diet include - Leafy greens, such as spinach and collards - Fruit from vines, such as grapes and blackberries - Root vegetables, such as carrots and potatoes - Citrus fruits, such as oranges and grapefruit",MPlusHealthTopics,Potassium +What is (are) Warts ?,"Warts are growths on your skin caused by an infection with humanpapilloma virus, or HPV. Types of warts include - Common warts, which often appear on your fingers - Plantar warts, which show up on the soles of your feet - Genital warts, which are a sexually transmitted disease - Flat warts, which appear in places you shave frequently In children, warts often go away on their own. In adults, they tend to stay. If they hurt or bother you, or if they multiply, you can remove them. Chemical skin treatments usually work. If not, various freezing, surgical and laser treatments can remove warts.",MPlusHealthTopics,Warts +What is (are) Gallbladder Cancer ?,"Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Cancer of the gallbladder is rare. It is more common in women and Native Americans. Symptoms include - Jaundice (yellowing of the skin and whites of the eyes) - Pain above the stomach - Fever - Nausea and vomiting - Bloating - Lumps in the abdomen It is hard to diagnose gallbladder cancer in its early stages. Sometimes doctors find it when they remove the gallbladder for another reason. But people with gallstones rarely have gallbladder cancer. Because it is often found late, it can be hard to treat gallbladder cancer. Treatment options include surgery, chemotherapy, radiation, or a combination. NIH: National Cancer Institute",MPlusHealthTopics,Gallbladder Cancer +Do you have information about Heart Transplantation,"Summary : A heart transplant removes a damaged or diseased heart and replaces it with a healthy one. The healthy heart comes from a donor who has died. It is the last resort for people with heart failure when all other treatments have failed. The heart failure might have been caused by coronary heart disease, damaged heart valves or heart muscles, congenital heart defects, or viral infections of the heart. Although heart transplant surgery is a life-saving measure, it has many risks. Careful monitoring, treatment, and regular medical care can prevent or help manage some of these risks. After the surgery, most heart transplant patients can return to their normal levels of activity. However, fewer than 30 percent return to work for many different reasons. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Transplantation +What is (are) Delirium ?,"Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with - Attention and awareness - Thinking and memory - Emotion - Muscle control - Sleeping and waking Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. It can also be part of some mental illnesses or dementia. Delirium and dementia have similar symptoms, so it can be hard to tell them apart. They can also occur together. Delirium starts suddenly and can cause hallucinations. The symptoms may get better or worse, and can last for hours or weeks. On the other hand, dementia develops slowly and does not cause hallucinations. The symptoms are stable, and may last for months or years. Delirium tremens is a serious type of alcohol withdrawal syndrome. It usually happens to people who stop drinking after years of alcohol abuse. People with delirium often, though not always, make a full recovery after their underlying illness is treated.",MPlusHealthTopics,Delirium +Do you have information about Prenatal Care,"Summary : Prenatal care is the health care you get while you are pregnant. It includes your checkups and prenatal testing. Prenatal care can help keep you and your baby healthy. It lets your health care provider spot health problems early. Early treatment can cure many problems and prevent others. Your doctor or midwife will give you a schedule for your prenatal visits. If you are over 35 years old or your pregnancy is high risk because of health problems like diabetes or high blood pressure, your doctor or midwife will probably want to see you more often. You can also expect to see your health care provider more often as your due date gets closer. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Prenatal Care +What is (are) Throat Disorders ?,"Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx. The technical name for throat is pharynx. Throat problems are common. You've probably had a sore throat. The cause is usually a viral infection, but other causes include allergies, infection with strep bacteria or the upward movement of stomach acids into the esophagus, called GERD. Other problems that affect the throat include - Tonsillitis - an infection in the tonsils - Pharyngitis - inflammation of the pharynx - Cancers - Croup - inflammation, usually in small children, which causes a barking cough Most throat problems are minor and go away on their own. Treatments, when needed, depend on the problem.",MPlusHealthTopics,Throat Disorders +Do you have information about Child Development,"Summary : As children grow older, they develop in several different ways. Child development includes physical, intellectual, social, and emotional changes. Children grow and mature at very different rates. It's hard to say what ""normal"" is. There can be big differences in height, weight, and build among healthy children. Diet, exercise and genes are all factors. Some children begin puberty or are close to it before they are teenagers. Children start to become more independent from their parents. They may rebel. They also look outward - to their friends, who are usually of the same sex. Peer approval becomes very important. Your child may try new behaviors to be part of ""the group."" This can also be the time that parents or teachers recognize learning disabilities or behavioral problems in children. These problems can get worse as time goes on, so it is important to get help early.",MPlusHealthTopics,Child Development +What is (are) Pinworms ?,"Pinworms are small parasites that can live in the colon and rectum. You get them when you swallow their eggs. The eggs hatch inside your intestines. While you sleep, the female pinworms leave the intestines through the anus and lay eggs on nearby skin. Pinworms spread easily. When people who are infected touch their anus, the eggs attach to their fingertips. They can spread the eggs to others directly through their hands, or through contaminated clothing, bedding, food, or other articles. The eggs can live on household surfaces for up to 2 weeks. The infection is more common in children. Many people have no symptoms at all. Some people feel itching around the anus or vagina. The itching may become intense, interfere with sleep, and make you irritable. Your health care provider can diagnose pinworm infection by finding the eggs. A common way to collect the eggs is with a sticky piece of clear tape. Mild infections may not need treatment. If you do need medicine, everyone in the household should take it. To prevent becoming infected or reinfected with pinworms, - Bathe after waking up - Wash your pajamas and bed sheets often - Wash your hands regularly, especially after using the bathroom or changing diapers - Change your underwear every day - Avoid nail biting - Avoid scratching the anal area NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Pinworms +What is (are) Skin Pigmentation Disorders ?,"Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body. If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin.",MPlusHealthTopics,Skin Pigmentation Disorders +Do you have information about Health Insurance,"Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their employers. In most cases, the employer helps pay for that insurance. Insurance through employers is often with a managed care plan. These plans contract with health care providers and medical facilities to provide care for members at reduced costs. You can also purchase health insurance on your own. People who meet certain requirements can qualify for government health insurance, such as Medicare and Medicaid. The Affordable Care Act expands health insurance coverage for many people in the U.S.",MPlusHealthTopics,Health Insurance +Do you have information about Climate Change,"Summary : Climate is the average weather in a place over a period of time. Climate change is major change in temperature, rainfall, snow, or wind patterns lasting for many years. It can be caused by natural factors or by human activities. Today climate changes are occurring at an increasingly rapid rate. Climate change can affect our health. It can lead to - More heat-related illness and deaths - More pollen, mold, and air pollution. This can cause an increase in allergies, asthma, and breathing problems. - Mosquitoes and other insects that carry diseases spreading to areas that used to be too cold for them. - More floods and rising sea levels. This can cause an increase in contamination of food and water. - More extreme weather events, such as hurricanes and wildfires. These can cause death, injuries, stress, and mental health problems. Researchers are studying the best ways to lessen climate change and reduce its impact on our health. NIH: National Institute of Environmental Health Sciences",MPlusHealthTopics,Climate Change +What is (are) Amblyopia ?,"Amblyopia, or ""lazy eye,"" is the most common cause of visual impairment in children. It happens when an eye fails to work properly with the brain. The eye may look normal, but the brain favors the other eye. In some cases, it can affect both eyes. Causes include - Strabismus - a disorder in which the two eyes don't line up in the same direction - Refractive error in an eye - when one eye cannot focus as well as the other, because of a problem with its shape. This includes nearsightedness, farsightedness, and astigmatism. - Cataract - a clouding in the lens of the eye It can be hard to diagnose amblyopia. It is often found during a routine vision exam. Treatment for amblyopia forces the child to use the eye with weaker vision. There are two common ways to do this. One is to have the child wear a patch over the good eye for several hours each day, over a number of weeks to months. The other is with eye drops that temporarily blur vision. Each day, the child gets a drop of a drug called atropine in the stronger eye. It is also sometimes necessary to treat the underlying cause. This could include glasses or surgery. NIH: National Eye Institute",MPlusHealthTopics,Amblyopia +Do you have information about Immunization,"Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). Immunizations are important for adults as well as children. Your immune system helps your body fight germs by producing substances to combat them. Once it does, the immune system ""remembers"" the germ and can fight it again. Vaccines contain germs that have been killed or weakened. When given to a healthy person, the vaccine triggers the immune system to respond and thus build immunity. Before vaccines, people became immune only by actually getting a disease and surviving it. Immunizations are an easier and less risky way to become immune. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Immunization +What is (are) Cancer ?,"Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. These extra cells can form a mass called a tumor. Tumors can be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors can invade nearby tissues. They can also break away and spread to other parts of the body. Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for where they start. For example, lung cancer starts in the lung, and breast cancer starts in the breast. The spread of cancer from one part of the body to another is called metastasis. Symptoms and treatment depend on the cancer type and how advanced it is. Most treatment plans may include surgery, radiation and/or chemotherapy. Some may involve hormone therapy, biologic therapy, or stem cell transplantation. NIH: National Cancer Institute",MPlusHealthTopics,Cancer +What is (are) Refractive Errors ?,"The cornea and lens of your eye helps you focus. Refractive errors are vision problems that happen when the shape of the eye keeps you from focusing well. The cause could be the length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens. Four common refractive errors are - Myopia, or nearsightedness - clear vision close up but blurry in the distance - Hyperopia, or farsightedness - clear vision in the distance but blurry close up - Presbyopia - inability to focus close up as a result of aging - Astigmatism - focus problems caused by the cornea The most common symptom is blurred vision. Other symptoms may include double vision, haziness, glare or halos around bright lights, squinting, headaches, or eye strain. Glasses or contact lenses can usually correct refractive errors. Laser eye surgery may also be a possibility. NIH: National Eye Institute",MPlusHealthTopics,Refractive Errors +Do you have information about Cesarean Section,"Summary : A Cesarean section (C-section) is surgery to deliver a baby. The baby is taken out through the mother's abdomen. In the United States, about one in four women have their babies this way. Most C-sections are done when unexpected problems happen during delivery. These include - Health problems in the mother - The position of the baby - Not enough room for the baby to go through the vagina - Signs of distress in the baby C-sections are also more common among women carrying more than one baby. The surgery is relatively safe for mother and baby. Still, it is major surgery and carries risks. It also takes longer to recover from a C-section than from vaginal birth. After healing, the incision may leave a weak spot in the wall of the uterus. This could cause problems with an attempted vaginal birth later. However, more than half of women who have a C-section can give vaginal birth later.",MPlusHealthTopics,Cesarean Section +What is (are) Digestive Diseases ?,"When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have - Blood in your stool - Changes in bowel habits - Severe abdominal pain - Unintentional weight loss - Heartburn not relieved by antacids NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Digestive Diseases +What is (are) Acute Myeloid Leukemia ?,"Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid leukemia (AML), there are too many of a specific type of white blood cell called a myeloblast. AML is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated. Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation. Symptoms of AML include: - Fever - Shortness of breath - Easy bruising or bleeding - Bleeding under the skin - Weakness or feeling tired - Weight loss or loss of appetite Tests that examine the blood and bone marrow diagnose AML. Treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back. NIH: National Cancer Institute",MPlusHealthTopics,Acute Myeloid Leukemia +Do you have information about Critical Care,"Summary : Critical care helps people with life-threatening injuries and illnesses. It might treat problems such as complications from surgery, accidents, infections, and severe breathing problems. It involves close, constant attention by a team of specially-trained health care providers. Critical care usually takes place in an intensive care unit (ICU) or trauma center. Monitors, intravenous (IV) tubes, feeding tubes, catheters, breathing machines, and other equipment are common in critical care units. They can keep a person alive, but can also increase the risk of infection. Many patients in critical care recover, but some die. Having advance directives in place is important. They help health care providers and family members make end-of-life decisions if you are not able to make them.",MPlusHealthTopics,Critical Care +What is (are) Tooth Disorders ?,"Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems such as cavities (also known as tooth decay), infections, and injuries. The most familiar symptom of a tooth problem is a toothache. Others include worn-down or loose teeth. It's important that you see a dentist if you have any problems with your teeth. Fortunately, you can prevent many tooth disorders by taking care of your teeth and keeping them clean.",MPlusHealthTopics,Tooth Disorders +What is (are) Liver Diseases ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.",MPlusHealthTopics,Liver Diseases +What is (are) Genetic Brain Disorders ?,"A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain. Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors. Some examples of genetic brain disorders include - Leukodystrophies - Phenylketonuria - Tay-Sachs disease - Wilson disease Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.",MPlusHealthTopics,Genetic Brain Disorders +What is (are) Sarcoidosis ?,"Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include - Cough - Shortness of breath - Weight loss - Night sweats - Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Sarcoidosis +What is (are) Trigeminal Neuralgia ?,"Trigeminal neuralgia (TN) is a type of chronic pain that affects your face. It causes extreme, sudden burning or shock-like pain. It usually affects one side of the face. Any vibration on your face, even from talking, can set it off. The condition may come and go, disappearing for days or even months. But the longer you have it, the less often it goes away. TN usually affects people over 50, especially women. The cause is probably a blood vessel pressing on the trigeminal nerve, one of the largest nerves in the head. Tumors and multiple sclerosis can also cause TN, but in some cases the cause is unknown. There is no single test to diagnose TN. It can be hard to diagnose, since many other conditions can cause facial pain. Treatment options include medicines, surgery, and complementary techniques. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Trigeminal Neuralgia +What is (are) Neuromuscular Disorders ?,"Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include - Amyotrophic lateral sclerosis - Multiple sclerosis - Myasthenia gravis - Spinal muscular atrophy Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.",MPlusHealthTopics,Neuromuscular Disorders +What is (are) Snoring ?,"Snoring is the sound you make when your breathing is blocked while you are asleep. The sound is caused by tissues at the top of your airway that strike each other and vibrate. Snoring is common, especially among older people and people who are overweight. When severe, snoring can cause frequent awakenings at night and daytime sleepiness. It can disrupt your bed partner's sleep. Snoring can also be a sign of a serious sleep disorder called sleep apnea. You should see your health care provider if you are often tired during the day, don't feel that you sleep well, or wake up gasping. To reduce snoring - Lose weight if you are overweight. It may help, but thin people can snore, too. - Cut down or avoid alcohol and other sedatives at bedtime - Don't sleep flat on your back NIH: National Institute on Aging",MPlusHealthTopics,Snoring +What is (are) Whooping Cough ?,"Whooping cough is an infectious bacterial disease that causes uncontrollable coughing. The name comes from the noise you make when you take a breath after you cough. You may have choking spells or may cough so hard that you vomit. Anyone can get whooping cough, but it is more common in infants and children. It's especially dangerous for infants. The coughing spells can be so bad that it is hard for infants to eat, drink, or breathe. To make a diagnosis, your doctor may do a physical exam, blood tests, chest x-rays, or nose or throat cultures. Before there was a vaccine, whooping cough was one of the most common childhood diseases and a major cause of childhood deaths in the U.S. Now most cases are prevented by vaccines. If you have whooping cough, treatment with antibiotics may help if given early. Centers for Disease Control and Prevention",MPlusHealthTopics,Whooping Cough +What is (are) Varicose Veins ?,"Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein. Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins. Varicose veins are very common. You are more at risk if you are older, a female, obese, don't exercise or have a family history. They can also be more common in pregnancy. Doctors often diagnose varicose veins from a physical exam. Sometimes you may need additional tests. Exercising, losing weight, elevating your legs when resting, and not crossing them when sitting can help keep varicose veins from getting worse. Wearing loose clothing and avoiding long periods of standing can also help. If varicose veins are painful or you don't like the way they look, your doctor may recommend procedures to remove them. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Varicose Veins +What is (are) Chronic Myeloid Leukemia ?,"Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell. Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Sometimes CML does not cause any symptoms. If you have symptoms, they may include: - Fatigue - Weight loss - Night sweats - Fever - Pain or a feeling of fullness below the ribs on the left side Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Chronic Myeloid Leukemia +Do you have information about Statins,"Summary : Statins are drugs used to lower cholesterol. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can stick to the walls of your arteries and narrow or even block them. If diet and exercise don't reduce your cholesterol levels, you may need to take medicine. Often, this medicine is a statin. Statins interfere with the production of cholesterol in your liver. They lower bad cholesterol levels and raise good cholesterol levels. This can slow the formation of plaques in your arteries. Statins are relatively safe for most people. But they are not recommended for pregnant patients or those with active or chronic liver disease. They can also cause serious muscle problems. Some statins also interact adversely with other drugs. You may have fewer side effects with one statin drug than another. Researchers are also studying the use of statins for other conditions. Food and Drug Administration",MPlusHealthTopics,Statins +What is (are) Scoliosis ?,"Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Scoliosis +What is (are) Retinal Disorders ?,"The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are - Macular degeneration - a disease that destroys your sharp, central vision - Diabetic eye disease - Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye - Retinoblastoma - cancer of the retina. It is most common in young children. - Macular pucker - scar tissue on the macula - Macular hole - a small break in the macula that usually happens to people over 60 - Floaters - cobwebs or specks in your field of vision NIH: National Eye Institute",MPlusHealthTopics,Retinal Disorders +What is (are) Monkeypox Virus Infections ?,"Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention",MPlusHealthTopics,Monkeypox Virus Infections +What is (are) Thymus Cancer ?,"The thymus is a small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections. Cancer of the thymus is rare. You are more likely to get it if you have other diseases such as myasthenia gravis, lupus or rheumatoid arthritis. Sometimes there are no symptoms. Other times, thymus cancer can cause - A cough that doesn't go away - Chest pain - Trouble breathing Doctors use a physical exam, imaging tests, and a biopsy to diagnose thymus cancer. The most common treatment is surgery to remove the tumor. Other options include radiation therapy, chemotherapy, and hormone therapy. NIH: National Cancer Institute",MPlusHealthTopics,Thymus Cancer +What is (are) Hemorrhagic Fevers ?,"Viral hemorrhagic fevers (VHFs) are a group of illnesses caused by four families of viruses. These include the Ebola and Marburg, Lassa fever, and yellow fever viruses. VHFs have common features: they affect many organs, they damage the blood vessels, and they affect the body's ability to regulate itself. Some VHFs cause mild disease, but some, like Ebola or Marburg, cause severe disease and death. VHFs are found around the world. Specific diseases are usually limited to areas where the animals that carry them live. For example, Lassa fever is limited to rural areas of West Africa where rats and mice carry the virus. The risk for travelers is low, but you should avoid visiting areas where there are disease outbreaks. Because there are no effective treatments for some of these viral infections, there is concern about their use in bioterrorism. Centers for Disease Control and Prevention",MPlusHealthTopics,Hemorrhagic Fevers +What is (are) Hand Injuries and Disorders ?,"No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities. Hand problems include - Carpal tunnel syndrome - compression of a nerve as it goes through the wrist, often making your fingers feel numb - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis, which can also cause deformity - Tendinitis - irritation of the tendons - Disorders and injuries of your fingers and thumb",MPlusHealthTopics,Hand Injuries and Disorders +Do you have information about College Health,"Summary : College life involves excitement, along with new challenges, risks, and responsibilities. You are meeting new people, learning new things, and making your own decisions. It can sometimes be stressful. You have to deal with pressures related to food, drink, appearance, drugs, and sexual activity. There are steps you can take to stay healthy and safe while you're in college: - Eat a balanced diet - Get enough sleep - Get regular physical activity - Maintain your health with checkups and vaccinations - If you decide to have sex, practice safe sex - Make smart choices about alcohol and drugs - Get help if you are stressed or depressed Centers for Disease Control and Prevention",MPlusHealthTopics,College Health +What is (are) Raynaud's Disease ?,"Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can't get to the surface of the skin and the affected areas turn white and blue. When the blood flow returns, the skin turns red and throbs or tingles. In severe cases, loss of blood flow can cause sores or tissue death. Primary Raynaud's happens on its own. The cause is not known. There is also secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are more likely to develop Raynaud's. It is also more common in women, people with a family history, and those over age 30. Treatment for Raynaud's may include drugs to keep the blood vessels open. There are also simple things you can do yourself, such as - Soaking hands in warm water at the first sign of an attack - Keeping your hands and feet warm in cold weather - Avoiding triggers, such as certain medicines and stress NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Raynaud's Disease +What is (are) Cytomegalovirus Infections ?,"Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life. CMV is spread through close contact with body fluids. Most people with CMV don't get sick and don't know that they've been infected. But infection with the virus can be serious in babies and people with weak immune systems. If a woman gets CMV when she is pregnant, she can pass it on to her baby. Usually the babies do not have health problems. But some babies can develop lifelong disabilities. A blood test can tell whether a person has ever been infected with CMV. Most people with CMV don't need treatment. If you have a weakened immune system, your doctor may prescribe antiviral medicine. Good hygiene, including proper hand washing, may help prevent infections. Centers for Disease Control and Prevention",MPlusHealthTopics,Cytomegalovirus Infections +What is (are) Gangrene ?,"Gangrene is the death of tissues in your body. It happens when a part of your body loses its blood supply. Gangrene can happen on the surface of the body, such as on the skin, or inside the body, in muscles or organs. Causes include - Serious injuries - Problems with blood circulation, such as atherosclerosis and peripheral arterial disease - Diabetes Skin symptoms may include a blue or black color, pain, numbness, and sores that produce a foul-smelling discharge. If the gangrene is internal, you may run a fever and feel unwell, and the area may be swollen and painful. Gangrene is a serious condition. It needs immediate attention. Treatment includes surgery, antibiotics, and oxygen therapy. In severe cases an amputation may be necessary.",MPlusHealthTopics,Gangrene +What is (are) Sudden Infant Death Syndrome ?,"Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS ""crib death"" because many babies who die of SIDS are found in their cribs. SIDS is the leading cause of death in children between one month and one year old. Most SIDS deaths occur when babies are between two months and four months old. Premature babies, boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health care professionals don't know what causes SIDS, they do know ways to reduce the risk. These include - Placing babies on their backs to sleep, even for short naps. ""Tummy time"" is for when babies are awake and someone is watching - Using a firm sleep surface, such as a crib mattress covered with a fitted sheet - Keeping soft objects and loose bedding away from sleep area - Making sure babies don't get too hot. Keep the room at a comfortable temperature for an adult. - Don't smoke during pregnancy or allow anyone to smoke near your baby NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Sudden Infant Death Syndrome +What is (are) Brain Aneurysm ?,"A brain aneurysm is an abnormal bulge or ""ballooning"" in the wall of an artery in the brain. They are sometimes called berry aneurysms because they are often the size of a small berry. Most brain aneurysms produce no symptoms until they become large, begin to leak blood, or burst. If a brain aneurysm presses on nerves in your brain, it can cause signs and symptoms. These can include - A droopy eyelid - Double vision or other changes in vision - Pain above or behind the eye - A dilated pupil - Numbness or weakness on one side of the face or body Treatment depends on the size and location of the aneurysm, whether it is infected, and whether it has burst. If a brain aneurysm bursts, symptoms can include a sudden, severe headache, nausea and vomiting, stiff neck, loss of consciousness, and signs of a stroke. Any of these symptoms requires immediate medical attention. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Brain Aneurysm +What is (are) Corneal Disorders ?,"Your cornea is the outermost layer of your eye. It is clear and shaped like a dome. The cornea helps to shield the rest of the eye from germs, dust, and other harmful matter. It also helps your eye to focus. If you wear contact lenses, they float on top of your corneas. Problems with the cornea include - Refractive errors - Allergies - Infections - Injuries - Dystrophies - conditions in which parts of the cornea lose clarity due to a buildup of cloudy material Treatments of corneal disorders include medicines, corneal transplantation, and corneal laser surgery. NIH: National Eye Institute",MPlusHealthTopics,Corneal Disorders +Do you have information about Winter Weather Emergencies,"Summary : Severe winter weather can lead to health and safety challenges. You may have to cope with - Cold related health problems, including frostbite and hypothermia - Household fires and carbon monoxide poisoning from space heaters and fireplaces - Unsafe driving conditions from icy roads - Power failures - Floods after snow and ice melt Although there are no guarantees of safety during winter weather emergencies, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention",MPlusHealthTopics,Winter Weather Emergencies +What is (are) Headache ?,"Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Headache +Do you have information about E-Cigarettes,"Summary : E-cigarettes, or electronic cigarettes, are battery-operated smoking devices. They often look like cigarettes, but work differently. Using an e-cigarette is called vaping. The user puffs on the mouthpiece of a cartridge. This causes a vaporizer to heat the liquid inside the cartridge. The liquid contains nicotine, flavorings, and other chemicals. The heated liquid turns into the vapor that is inhaled. Some people think that e-cigarettes are safer than cigarettes, and that they can be used to help people quit smoking. But not much is known about the health risks of using them, or whether they do help people quit smoking. However we do know about some dangers of e-cigarettes: - They contain nicotine, which is addictive - They contain other potentially harmful chemicals - There is a link between e-cigarette use and tobacco cigarette use in teens - The liquid in e-cigarettes can cause nicotine poisoning if someone drinks, sniffs, or touches it NIH: National Institute on Drug Abuse",MPlusHealthTopics,E-Cigarettes +What is (are) Eye Movement Disorders ?,"When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are - Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in ""crossed eyes"" or ""walleye."" - Nystagmus - fast, uncontrollable movements of the eyes, sometimes called ""dancing eyes"" Some eye movement disorders are present at birth. Others develop over time and may be associated with other problems, such as injuries. Treatments include glasses, patches, eye muscle exercises, and surgery. There is no cure for some kinds of eye movement disorders, such as most kinds of nystagmus.",MPlusHealthTopics,Eye Movement Disorders +What is (are) Croup ?,"Croup is an inflammation of the vocal cords (larynx) and windpipe (trachea). It causes difficulty breathing, a barking cough, and a hoarse voice. The cause is usually a virus, often parainfluenza virus. Other causes include allergies and reflux. Croup often starts out like a cold. But then the vocal cords and windpipe become swollen, causing the hoarseness and the cough. There may also be a fever and high-pitched noisy sounds when breathing. The symptoms are usually worse at night, and last for about three to five days. Children between the ages of 6 months and 3 years have the highest risk of getting croup. They may also have more severe symptoms. Croup is more common in the fall and winter. Most cases of viral croup are mild and can be treated at home. Rarely, croup can become serious and interfere with your child's breathing. If you are worried about your child's breathing, call your health care provider right away.",MPlusHealthTopics,Croup +Do you have information about Assistive Devices,"Summary : If you have a disability or injury, you may use a number of assistive devices. These are tools, products or types of equipment that help you perform tasks and activities. They may help you move around, see, communicate, eat, or get dressed. Some are high-tech tools, such as computers. Others are much simpler, like a ""reacher"" - a tool that helps you grab an object you can't reach.",MPlusHealthTopics,Assistive Devices +What is (are) Alzheimer's Caregivers ?,"Caring for someone who has Alzheimer's disease (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help. Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. Find a support group. Others who have ""been there"" may be able to help and will understand. If there are times of day that the person is less confused or more cooperative, take advantage of that in daily routines. Consider using adult day care or respite services. These offer a break with the peace of mind that the patient is being taken care of. Begin to plan for the future. This may include - Getting financial and legal documents in order - Looking into assisted living or nursing homes - Finding out what your health insurance and Medicare will cover NIH: National Institute on Aging",MPlusHealthTopics,Alzheimer's Caregivers +What is (are) Friedreich's Ataxia ?,"Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include - Difficulty walking - Muscle weakness - Speech problems - Involuntary eye movements - Scoliosis (curving of the spine to one side) - Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Friedreich's Ataxia +Do you have information about Childhood Immunization,"Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at least some vaccines before they may attend school. Vaccines help make you immune to serious diseases without getting sick first. Without a vaccine, you must actually get a disease in order to become immune to the germ that causes it. Vaccines work best when they are given at certain ages. For example, children don't receive measles vaccine until they are at least one year old. If it is given earlier it might not work as well. The Centers for Disease Control and Prevention publishes a schedule for childhood vaccines. Although some of the vaccines you receive as a child provide protection for many years, adults need immunizations too. Centers for Disease Control and Prevention",MPlusHealthTopics,Childhood Immunization +What is (are) Wrist Injuries and Disorders ?,"Your wrist is made up of eight small bones known as carpals. They support a tube that runs through your wrist. That tube, called the carpal tunnel, has tendons and a nerve inside. It is covered by a ligament, which holds it in place. Wrist pain is common. Repetitive motion can damage your wrist. Everyday activities like typing, racquet sports or sewing can cause pain, or even carpal tunnel syndrome. Wrist pain with bruising and swelling can be a sign of injury. The signs of a possible fracture include misshapen joints and inability to move your wrist. Some wrist fractures are a result of osteoporosis. Other common causes of pain are - Sprains and strains - Tendinitis - Arthritis - Gout and pseudogout",MPlusHealthTopics,Wrist Injuries and Disorders +Do you have information about Dietary Fiber,"Summary : Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble fiber or insoluble fiber. Both types have important health benefits. Good sources of dietary fiber include - Whole grains - Nuts and seeds - Fruit and vegetables Dietary fiber adds bulk to your diet and makes you feel full faster, helping you control your weight. It helps digestion and helps prevent constipation. Most Americans don't eat enough dietary fiber. But add it to your diet slowly. Increasing dietary fiber too quickly can lead to gas, bloating, and cramps. Centers for Disease Control and Prevention",MPlusHealthTopics,Dietary Fiber +What is (are) Colonic Polyps ?,"A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. Polyps can be removed when a doctor examines the inside of the large intestine during a colonoscopy. Anyone can get polyps, but certain people are more likely than others. You may have a greater chance of getting polyps if you - Are over age 50 - Have had polyps before - Have a family member with polyps - Have a family history of colon cancer Most colon polyps do not cause symptoms. If you have symptoms, they may include blood on your underwear or on toilet paper after a bowel movement, blood in your stool, or constipation or diarrhea lasting more than a week. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Colonic Polyps +What is (are) Parkinson's Disease ?,"Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, often on one side of the body. Later they affect both sides. They include - Trembling of hands, arms, legs, jaw and face - Stiffness of the arms, legs and trunk - Slowness of movement - Poor balance and coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking. There is no lab test for PD, so it can be difficult to diagnose. Doctors use a medical history and a neurological examination to diagnose it. PD usually begins around age 60, but it can start earlier. It is more common in men than in women. There is no cure for PD. A variety of medicines sometimes help symptoms dramatically. Surgery and deep brain stimulation (DBS) can help severe cases. With DBS, electrodes are surgically implanted in the brain. They send electrical pulses to stimulate the parts of the brain that control movement. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Parkinson's Disease +Do you have information about Drug Safety,"Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testing and clinical trials The FDA also monitors a drug's safety after approval. For you, drug safety means buying online from only legitimate pharmacies and taking your medicines correctly.",MPlusHealthTopics,Drug Safety +What is (are) Thyroid Cancer ?,"Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you - Are between ages 25 and 65 - Are a woman - Are Asian - Have a family member who has had thyroid disease - Have had radiation treatments to your head or neck You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Thyroid Cancer +Do you have information about Dietary Supplements,"Summary : Dietary supplements are vitamins, minerals, herbs, and many other products. They can come as pills, capsules, powders, drinks, and energy bars. Supplements do not have to go through the testing that drugs do. Some supplements can play an important role in health. For example, calcium and vitamin D are important for keeping bones strong. Pregnant women can take the vitamin folic acid to prevent certain birth defects in their babies. To take a supplement as safely as possible - Tell your health care provider about any dietary supplements you use - Do not take a bigger dose than the label recommends - Check with your health care provider about the supplements you take if you are going to have any type of surgery - Read trustworthy information about the supplement NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Dietary Supplements +Do you have information about Veterans and Military Health,"Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from exposure to environmental hazards, such as contaminated water, chemicals, and infections. Being in combat and being separated from your family can be stressful. The stress can put service members and veterans at risk for mental health problems. These include anxiety, post-traumatic stress disorder, depression and substance abuse. Suicide can also be a concern.",MPlusHealthTopics,Veterans and Military Health +What is (are) Ischemic Stroke ?,"A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Ischemic stroke is the most common type. It is usually caused by a blood clot that blocks or plugs a blood vessel in the brain. This keeps blood from flowing to the brain. Within minutes, brain cells begin to die. Another cause is stenosis, or narrowing of the artery. This can happen because of atherosclerosis, a disease in which plaque builds up inside your arteries. Transient ischemic attacks (TIAs) occur when the blood supply to the brain is interrupted briefly. Having a TIA can mean you are at risk for having a more serious stroke. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause It is important to treat strokes as quickly as possible. Blood thinners may be used to stop a stroke while it is happening by quickly dissolving the blood clot. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Ischemic Stroke +"What is (are) Twins, Triplets, Multiple Births ?","If you are pregnant with more than one baby, you are far from alone. Multiple births are up in the United States. More women are having babies after age 30 and more are taking fertility drugs. Both boost the chance of carrying more than one baby. A family history of twins also makes multiples more likely. Years ago, most twins came as a surprise. Now, most women know about a multiple pregnancy early. Women with multiple pregnancies should see their health care providers more often than women who are expecting one baby. Multiple pregnancy babies have a much higher risk of being born prematurely and having a low birth weight. There is also more of a risk of disabilities. Some women have to go on bed rest to delay labor. Finally, they may deliver by C-section, especially if there are three babies or more. Parenting multiples can be a challenge. Volunteer help and support groups for parents of multiples can help. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,"Twins, Triplets, Multiple Births" +Do you have information about Vasectomy,"Summary : Vasectomy is a type of surgery that prevents a man from being able to get a woman pregnant. It is a permanent form of birth control. Vasectomy works by blocking the tube through which sperm pass. The surgery usually takes no more than 30 minutes. Almost all men go home the same day. In most cases, recovery takes less than a week. Vasectomy can sometimes be reversed, but not always. Having a vasectomy does not protect against sexually transmitted diseases, such as HIV/AIDS. Men who have had vasectomy should still practice safe sex to avoid STDs. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Vasectomy +What is (are) Living with HIV/AIDS ?,"Infection with HIV is serious. But the outlook for people with HIV/AIDS is improving. If you are infected with HIV, there are many things you can do to help ensure you have a longer, healthier life. One important thing is to take your medicines. Make sure you have a health care provider who knows how to treat HIV. You may want to join a support group. Learn as much as you can about your disease and its treatment. And eat healthy foods and exercise regularly - things that everyone should try to do.",MPlusHealthTopics,Living with HIV/AIDS +What is (are) Impetigo ?,"Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite. Symptoms start with red or pimple-like sores surrounded by red skin. These sores can be anywhere, but usually they occur on your face, arms and legs. The sores fill with pus, then break open after a few days and form a thick crust. They are often itchy, but scratching them can spread the sores. Impetigo can spread by contact with sores or nasal discharge from an infected person. You can treat impetigo with antibiotics. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Impetigo +Do you have information about End of Life Issues,"Summary : Planning for the end of life can be difficult. But by deciding what end-of-life care best suits your needs when you are healthy, you can help those close to you make the right choices when the time comes. End-of-life planning usually includes making choices about the following: - The goals of care (for example, whether to use certain medicines during the last days of life) - Where you want to spend your final days - Which treatments for end-of-life care you wish to receive - What type of palliative care and hospice care you wish to receive Advance directives can help make your wishes clear to your family and health care providers.",MPlusHealthTopics,End of Life Issues +What is (are) Osteogenesis Imperfecta ?,"Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Osteogenesis Imperfecta +What is (are) Managed Care ?,"Managed care plans are a type of health insurance. They have contracts with health care providers and medical facilities to provide care for members at reduced costs. These providers make up the plan's network. How much of your care the plan will pay for depends on the network's rules. Plans that restrict your choices usually cost you less. If you want a flexible plan, it will probably cost more. There are three types of managed care plans: - Health Maintenance Organizations (HMO) usually only pay for care within the network. You choose a primary care doctor who coordinates most of your care. - Preferred Provider Organizations (PPO) usually pay more if you get care within the network. They still pay part of the cost if you go outside the network. - Point of Service (POS) plans let you choose between an HMO or a PPO each time you need care.",MPlusHealthTopics,Managed Care +What is (are) Cancer in Children ?,"Cancer begins in the cells, which are the building blocks of your body. Normally, new cells form as you need them, replacing old cells that die. Sometimes, this process goes wrong. New cells form when you don't need them, and old cells don't die when they should. The extra cells can form a tumor. Benign tumors aren't cancer while malignant ones are. Malignant tumor cells can invade nearby tissues or break away and spread to other parts of the body. Children can get cancer in the same parts of the body as adults, but there are differences. Childhood cancers can occur suddenly, without early symptoms, and have a high rate of cure. The most common children's cancer is leukemia. Other cancers that affect children include brain tumors, lymphoma, and soft tissue sarcoma. Symptoms and treatment depend on the cancer type and how advanced it is. Treatment may include surgery, radiation and/or chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Cancer in Children +What is (are) Appendicitis ?,"The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. If the blockage is not treated, the appendix can burst and spread infection into the abdomen. This causes a condition called peritonitis. The main symptom is pain in the abdomen, often on the right side. It is usually sudden and gets worse over time. Other symptoms may include - Swelling in the abdomen - Loss of appetite - Nausea and vomiting - Constipation or diarrhea - Inability to pass gas - Low fever Not everyone with appendicitis has all these symptoms. Appendicitis is a medical emergency. Treatment almost always involves removing the appendix. Anyone can get appendicitis, but it is more common among people 10 to 30 years old. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Appendicitis +What is (are) Allergy ?,"An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are - Pollen - Dust mites - Mold spores - Pet dander - Food - Insect stings - Medicines Normally, your immune system fights germs. It is your body's defense system. In most allergic reactions, however, it is responding to a false alarm. Genes and the environment probably both play a role. Allergies can cause a variety of symptoms such as a runny nose, sneezing, itching, rashes, swelling, or asthma. Allergies can range from minor to severe. Anaphylaxis is a severe reaction that can be life-threatening. Doctors use skin and blood tests to diagnose allergies. Treatments include medicines, allergy shots, and avoiding the substances that cause the reactions. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Allergy +Do you have information about Medicaid,"Summary : Medicaid is government health insurance that helps many low-income people in the United States to pay their medical bills. The Federal government sets up general guidelines for the program, but each state has its own rules. Your state might require you to pay a part of the cost for some medical services. You have to meet certain requirements to get Medicaid help. These might involve - Your age - Whether you are pregnant, disabled, or blind - Your income and resources - Whether or not you are a U.S. citizen or, if not, what your immigration status is Centers for Medicare and Medicaid Services",MPlusHealthTopics,Medicaid +What is (are) Stomach Cancer ?,"The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you - Have had a Helicobacter pylori infection - Have had stomach inflammation - Are a man - Eat lots of salted, smoked, or pickled foods - Smoke cigarettes - Have a family history of stomach cancer It is hard to diagnose stomach cancer in its early stages. Indigestion and stomach discomfort can be symptoms of early cancer, but other problems can cause the same symptoms. In advanced cases, there may be blood in your stool, vomiting, unexplained weight loss, jaundice, or trouble swallowing. Doctors diagnose stomach cancer with a physical exam, blood and imaging tests, an endoscopy, and a biopsy. Because it is often found late, it can be hard to treat stomach cancer. Treatment options include surgery, chemotherapy, radiation or a combination. NIH: National Cancer Institute",MPlusHealthTopics,Stomach Cancer +What is (are) Falls ?,"A fall can change your life. If you're elderly, it can lead to disability and a loss of independence. If your bones are fragile from osteoporosis, you could break a bone, often a hip. But aging alone doesn't make people fall. Diabetes and heart disease affect balance. So do problems with circulation, thyroid or nervous systems. Some medicines make people dizzy. Eye problems or alcohol can be factors. Any of these things can make a fall more likely. Babies and young children are also at risk of falling - off of furniture and down stairs, for example. Falls and accidents seldom ""just happen."" Taking care of your health by exercising and getting regular eye exams and physicals may help reduce your chance of falling. Getting rid of tripping hazards in your home and wearing nonskid shoes may also help. To reduce the chances of breaking a bone if you do fall, make sure that you get enough calcium and vitamin D. NIH: National Institute on Aging",MPlusHealthTopics,Falls +What is (are) Infectious Mononucleosis ?,"Infectious mononucleosis, or ""mono"", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called ""kissing disease."" Mono occurs most often in teens and young adults. However, you can get it at any age. Symptoms of mono include - Fever - Sore throat - Swollen lymph glands Sometimes you may also have a swollen spleen. Serious problems are rare. A blood test can show if you have mono. Most people get better in two to four weeks. However, you may feel tired for a few months afterward. Treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids.",MPlusHealthTopics,Infectious Mononucleosis +What is (are) Hair Loss ?,"You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration.",MPlusHealthTopics,Hair Loss +What is (are) Veterans and Military Family Health ?,"Service members and veterans face some different health issues from civilians. Their families also face some unique challenges. Families may have to cope with - Separation from their loved ones - Anxiety over loved ones' safety in combat zones - Illnesses and injuries from combat, including disabilities - Mental health effects of military service, including post-traumatic stress disorder - Family issues such as disruptions in parenting - Caregiver stress",MPlusHealthTopics,Veterans and Military Family Health +What is (are) Domestic Violence ?,"Domestic violence is a type of abuse. It usually involves a spouse or partner, but it can also be a child, elderly relative, or other family member. Domestic violence may include - Physical violence that can lead to injuries such as bruises or broken bones - Sexual violence - Threats of physical or sexual violence - Emotional abuse that may lead to depression, anxiety, or social isolation It is hard to know exactly how common domestic violence is, because people often don't report it. There is no typical victim. It happens among people of all ages. It affects those of all levels of income and education. The first step in getting help is to tell someone you trust. Centers for Disease Control and Prevention",MPlusHealthTopics,Domestic Violence +Do you have information about Sexual Problems in Women,"Summary : There are many problems that can keep a woman from enjoying sex. They include - Lack of sexual desire - Inability to become aroused - Lack of orgasm, or sexual climax - Painful intercourse These problems may have physical or psychological causes. Physical causes may include conditions like diabetes, heart disease, nerve disorders, or hormone problems. Some drugs can also affect desire and function. Psychological causes may include work-related stress and anxiety. They may also include depression or concerns about marriage or relationship problems. For some women, the problem results from past sexual trauma. Occasional problems with sexual function are common. If problems last more than a few months or cause distress for you or your partner, you should see your health care provider.",MPlusHealthTopics,Sexual Problems in Women +What is (are) Stress ?,"Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress: - Routine stress related to the pressures of work, family, and other daily responsibilities - Stress brought about by a sudden negative change, such as losing a job, divorce, or illness - Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health",MPlusHealthTopics,Stress +What is (are) Ankle Injuries and Disorders ?,"Your ankle bone and the ends of your two lower leg bones make up the ankle joint. Your ligaments, which connect bones to one another, stabilize and support it. Your muscles and tendons move it. The most common ankle problems are sprains and fractures. A sprain is an injury to the ligaments. It may take a few weeks to many months to heal completely. A fracture is a break in a bone. You can also injure other parts of the ankle such as tendons, which join muscles to bone, and cartilage, which cushions your joints. Ankle sprains and fractures are common sports injuries.",MPlusHealthTopics,Ankle Injuries and Disorders +What is (are) Latex Allergy ?,"Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. You could get a rash or asthma. In rare cases you could have a severe reaction called anaphylaxis. Your doctor may use a physical exam and skin and blood tests to diagnose it. There are medicines to treat a reaction, but it is best to try to avoid latex. Common latex products include - Gloves - Condoms - Balloons - Rubber bands - Shoe soles - Pacifiers You can find latex-free versions of these products.",MPlusHealthTopics,Latex Allergy +What is (are) Cough ?,"Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or acute bronchitis. Chronic coughs last longer than 2 to 3 weeks. Causes of chronic cough include - Chronic bronchitis - Asthma - Allergies - COPD (chronic obstructive pulmonary disease) - GERD (gastroesophageal reflux disease) - Smoking - Throat disorders, such as croup in young children - Some medicines Water can help ease your cough - whether you drink it or add it to the air with a steamy shower or vaporizer. If you have a cold or the flu, antihistamines may work better than non-prescription cough medicines. Children under four should not have cough medicine. For children over four, use caution and read labels carefully.",MPlusHealthTopics,Cough +What is (are) Postpartum Depression ?,"Many women have the baby blues after childbirth. If you have the baby blues, you may have mood swings, feel sad, anxious or overwhelmed, have crying spells, lose your appetite, or have trouble sleeping. The baby blues most often go away within a few days or a week. The symptoms are not severe and do not need treatment. The symptoms of postpartum depression last longer and are more severe. You may also feel hopeless and worthless, and lose interest in the baby. You may have thoughts of hurting yourself or the baby. Very rarely, new mothers develop something even more serious. They may have hallucinations or try to hurt themselves or the baby. They need to get treatment right away, often in the hospital. Postpartum depression can begin anytime within the first year after childbirth. The cause is not known. Hormonal and physical changes after birth and the stress of caring for a new baby may play a role. Women who have had depression are at higher risk. If you think you have postpartum depression, tell your health care provider. Medicines, including antidepressants and talk therapy can help you get well. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Postpartum Depression +Do you have information about Health Occupations,"Summary : Every day, around the clock, people who work in the health care industry provide care for millions of people, from newborns to the very ill. In fact, the health care industry is one of largest providers of jobs in the United States. Many health jobs are in hospitals. Others are in nursing homes, doctors' offices, dentists' offices, outpatient clinics and laboratories. To work in a health occupation, you often must have special training. Some, like doctors, must have more than 4 years of college. Bureau of Labor Statistics",MPlusHealthTopics,Health Occupations +What is (are) Retinal Detachment ?,"The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. It provides the sharp, central vision needed for reading, driving, and seeing fine detail. A retinal detachment lifts or pulls the retina from its normal position. It can occur at any age, but it is more common in people over age 40. It affects men more than women and whites more than African Americans. A retinal detachment is also more likely to occur in people who - Are extremely nearsighted - Have had a retinal detachment in the other eye - Have a family history of retinal detachment - Have had cataract surgery - Have other eye diseases or disorders - Have had an eye injury Symptoms include an increase in the number of floaters, which are little ""cobwebs"" or specks that float about in your field of vision, and/or light flashes in the eye. It may also seem like there is a ""curtain"" over your field of vision. A retinal detachment is a medical emergency. If not promptly treated, it can cause permanent vision loss. If you have any symptoms, see an eye care professional immediately. Treatment includes different types of surgery. NIH: National Eye Institute",MPlusHealthTopics,Retinal Detachment +Do you have information about Oil Spills,"Summary : Oil spills often happen because of accidents, when people make mistakes or equipment breaks down. Other causes include natural disasters or deliberate acts. Oil spills have major environmental and economic effects. Oil spills can also affect human health. These effects can depend on what kind of oil was spilled and where (on land, in a river, or in the ocean). Other factors include what kind of exposure and how much exposure there was. People who clean up the spill are more at risk. Problems could include skin and eye irritation, neurologic and breathing problems, and stress. Not much is known about the long-term effects of oil spills.",MPlusHealthTopics,Oil Spills +What is (are) Sleep Apnea ?,"Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Sleep Apnea +What is (are) Gallbladder Diseases ?,"Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Rarely, you can also get cancer in your gallbladder. Many gallbladder problems get better with removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways of reaching your small intestine.",MPlusHealthTopics,Gallbladder Diseases +What is (are) Prostate Diseases ?,"The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine away from the bladder and out of the body. A young man's prostate is about the size of a walnut. It slowly grows larger with age. If it gets too large, it can cause problems. This is very common after age 50. The older men get, the more likely they are to have prostate trouble. Some common problems are - Prostatitis - inflammation, usually caused by bacteria - Enlarged prostate (BPH), or benign prostatic hyperplasia - a common problem in older men which may cause dribbling after urination or a need to go often, especially at night - Prostate cancer - a common cancer that responds best to treatment when detected early NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Prostate Diseases +What is (are) Animal Diseases and Your Health ?,"Animal diseases that people can catch are called zoonoses. Many diseases affecting humans can be traced to animals or animal products. You can get a disease directly from an animal, or indirectly, through the environment. Farm animals can carry diseases. If you touch them or things they have touched, like fencing or buckets, wash your hands thoroughly. Adults should make sure children who visit farms or petting zoos wash up as well. Though they may be cute and cuddly, wild animals may carry germs, viruses, and parasites. Deer and deer mice carry ticks that cause Lyme disease. Some wild animals may carry rabies. Enjoy wildlife from a distance. Pets can also make you sick. Reptiles pose a particular risk. Turtles, snakes and iguanas can transmit Salmonella bacteria to their owners. You can get rabies from an infected dog or toxoplasmosis from handling kitty litter of an infected cat. The chance that your dog or cat will make you sick is small. You can reduce the risk by practicing good hygiene, keeping pet areas clean and keeping your pets' shots up-to-date.",MPlusHealthTopics,Animal Diseases and Your Health +What is (are) Platelet Disorders ?,"Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. If your blood has too many platelets, you may have a higher risk of blood clots. With other platelet disorders, the platelets do not work as they should. For example, in von Willebrand Disease, the platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. Treatment of platelet disorders depends on the cause. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Platelet Disorders +Do you have information about Nursing Homes,"Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupational therapy. There might be a nurses' station on each floor. Other nursing homes try to be more like home. They try to have a neighborhood feel. Often, they don't have a fixed day-to-day schedule, and kitchens might be open to residents. Staff members are encouraged to develop relationships with residents. Some nursing homes have special care units for people with serious memory problems such as Alzheimer's disease. Some will let couples live together. Nursing homes are not only for the elderly, but for anyone who requires 24-hour care. NIH: National Institute on Aging",MPlusHealthTopics,Nursing Homes +What is (are) Depression ?,"Depression is a serious medical illness. It's more than just a feeling of being sad or ""blue"" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include - Feeling sad or ""empty"" - Loss of interest in favorite activities - Overeating, or not wanting to eat at all - Not being able to sleep, or sleeping too much - Feeling very tired - Feeling hopeless, irritable, anxious, or guilty - Aches or pains, headaches, cramps, or digestive problems - Thoughts of death or suicide Depression is a disorder of the brain. There are a variety of causes, including genetic, biological, environmental, and psychological factors. Depression can happen at any age, but it often begins in teens and young adults. It is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants, talk therapy, or both. NIH: National Institute of Mental Health",MPlusHealthTopics,Depression +Do you have information about Pet Health,"Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget? Once you own a pet, keep it healthy. Know the signs of medical problems. Take your pet to the veterinarian if you notice: - Loss of appetite - Drinking a lot of water - Gaining or losing a lot of weight quickly - Strange behavior - Being sluggish and tired - Trouble getting up or down - Strange lumps",MPlusHealthTopics,Pet Health +What is (are) Tuberculosis ?,"Tuberculosis (TB) is a disease caused by bacteria called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but they can also damage other parts of the body. TB spreads through the air when a person with TB of the lungs or throat coughs, sneezes, or talks. If you have been exposed, you should go to your doctor for tests. You are more likely to get TB if you have a weak immune system. Symptoms of TB in the lungs may include - A bad cough that lasts 3 weeks or longer - Weight loss - Loss of appetite - Coughing up blood or mucus - Weakness or fatigue - Fever - Night sweats Skin tests, blood tests, x-rays, and other tests can tell if you have TB. If not treated properly, TB can be deadly. You can usually cure active TB by taking several medicines for a long period of time. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Tuberculosis +What is (are) Mild Cognitive Impairment ?,"Some forgetfulness can be a normal part of aging. However, some people have more memory problems than other people their age. This condition is called mild cognitive impairment, or MCI. People with MCI can take care of themselves and do their normal activities. MCI memory problems may include - Losing things often - Forgetting to go to events and appointments - Having more trouble coming up with words than other people of the same age Memory problems can also have other causes, including certain medicines and diseases that affect the blood vessels that supply the brain. Some of the problems brought on by these conditions can be managed or reversed. Your health care provider can do thinking, memory, and language tests to see if you have MCI. You may also need to see a specialist for more tests. Because MCI may be an early sign of Alzheimer's disease, it's really important to see your health care provider every 6 to 12 months. At this time, there is no proven drug treatment for MCI. Your health care provider can check to see if you have any changes in your memory or thinking skills over time. NIH: National Institute on Aging",MPlusHealthTopics,Mild Cognitive Impairment +What is (are) Myositis ?,"Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash. Other symptoms of myositis may include - Fatigue after walking or standing - Tripping or falling - Trouble swallowing or breathing Doctors may use a physical exam, lab tests, imaging tests and a muscle biopsy to diagnose myositis. There is no cure for these diseases, but you can treat the symptoms. Polymyositis and dermatomyositis are first treated with high doses of a corticosteroid. Other options include medications, physical therapy, exercise, heat therapy, assistive devices, and rest. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Myositis +What is (are) Athlete's Foot ?,"Athlete's foot is a common infection caused by a fungus. It most often affects the space between the toes. Symptoms include itching, burning, and cracked, scaly skin between your toes. You can get athlete's foot from damp surfaces, such as showers, swimming pools, and locker room floors. To prevent it - Keep your feet clean, dry, and cool - Wear clean socks - Don't walk barefoot in public areas - Wear flip-flops in locker room showers - Keep your toenails clean and clipped short Treatments include over-the-counter antifungal creams for most cases and prescription medicines for more serious infections. These usually clear up the infection, but it can come back. Centers for Disease Control and Prevention",MPlusHealthTopics,Athlete's Foot +What is (are) Hepatitis A ?,"Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. You can get it from - Eating food made by an infected person who did not wash their hands after using the bathroom - Drinking untreated water or eating food washed in untreated water - Putting into your mouth a finger or object that came into contact with an infected person's stool - Having close contact with an infected person, such as through sex or caring for someone who is ill Most people do not have any symptoms. If you do have symptoms, you may feel as if you have the flu. You may also have yellowish eyes and skin, called jaundice. A blood test will show if you have HAV. HAV usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. The hepatitis A vaccine can prevent HAV. Good hygiene can also help. Wash your hands thoroughly before preparing food, after using the toilet, or after changing a diaper. International travelers should be careful about drinking tap water. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hepatitis A +What is (are) Tourette Syndrome ?,"If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as - Attention deficit hyperactivity disorder (ADHD) - Obsessive-compulsive disorder (OCD) - Anxiety - Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Tourette Syndrome +What is (are) Pericardial Disorders ?,"The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines. - Pericardial effusion - the buildup of fluid in the sac - Cardiac tamponade - a serious problem in which buildup of fluid in the sac causes problems with the function of the heart Symptoms of pericardial problems include chest pain, rapid heartbeat, and difficulty breathing. Fever is a common symptom of acute pericarditis. Your doctor may use a physical exam, imaging tests, and heart tests to make a diagnosis. Treatment depends on the cause. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pericardial Disorders +Do you have information about Antibiotic Resistance,"Summary : Antibiotics are medicines that fight bacterial infections. Used properly, they can save lives. But there is a growing problem of antibiotic resistance. It happens when bacteria change and become able to resist the effects of an antibiotic. Using antibiotics can lead to resistance. Each time you take antibiotics, sensitive bacteria are killed. But resistant germs may be left to grow and multiply. They can spread to other people. They can also cause infections that certain antibiotics cannot cure. Methicillin-resistant Staphylococcus aureus (MRSA) is one example. It causes infections that are resistant to several common antibiotics. To help prevent antibiotic resistance - Don't use antibiotics for viruses like colds or flu. Antibiotics don't work on viruses. - Don't pressure your doctor to give you an antibiotic. - When you take antibiotics, follow the directions carefully. Finish your medicine even if you feel better. If you stop treatment too soon, some bacteria may survive and re-infect you. - Don't save antibiotics for later or use someone else's prescription. Centers for Disease Control and Prevention",MPlusHealthTopics,Antibiotic Resistance +Do you have information about HPV,"Summary : Human papillomaviruses (HPV) are common viruses that can cause warts. There are more than 100 types of HPV. Most are harmless, but about 30 types put you at risk for cancer. These types affect the genitals and you get them through sexual contact with an infected partner. They can be either low-risk or high-risk. Low-risk HPV can cause genital warts. High-risk HPV can lead to cancers of the cervix, vulva, vagina, and anus in women. In men, it can lead to cancers of the anus and penis. Although some people develop genital warts from HPV infection, others have no symptoms. Your health care provider can treat or remove the warts. In women, Pap tests can detect changes in the cervix that might lead to cancer. Both Pap and HPV tests are types of cervical cancer screening. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading HPV. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,HPV +What is (are) Homeless Health Concerns ?,"Poor health can contribute to being homeless, and being homeless can lead to poor health. Limited access to health care can make it worse. That's why the health of homeless people in the United States is worse than that of the general population. Common health problems include - Mental health problems - Substance abuse problems - Bronchitis and pneumonia - Problems caused by being outdoors - Wound and skin infections Many homeless women are victims of domestic or sexual abuse. Homeless children have high rates of emotional and behavioral problems, often from having witnessed abuse. Help such as shelters, health centers, and free meals are available. Contact your local homelessness assistance agency.",MPlusHealthTopics,Homeless Health Concerns +What is (are) Anthrax ?,"Anthrax is a disease caused by Bacillus anthracis, a germ that lives in soil. Many people know about it from the 2001 bioterror attacks. In the attacks, someone purposely spread anthrax through the U.S. mail. This killed five people and made 22 sick. Anthrax is rare. It affects animals such as cattle, sheep, and goats more often than people. People can get anthrax from contact with infected animals, wool, meat, or hides. It can cause three forms of disease in people. They are - Cutaneous, which affects the skin. People with cuts or open sores can get it if they touch the bacteria. - Inhalation, which affects the lungs. You can get this if you breathe in spores of the bacteria. - Gastrointestinal, which affects the digestive system. You can get it by eating infected meat. Antibiotics often cure anthrax if it is diagnosed early. But many people don't know they have anthrax until it is too late to treat. A vaccine to prevent anthrax is available for people in the military and others at high risk. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Anthrax +What is (are) Developmental Disabilities ?,"Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. There are many causes of developmental disabilities, including - Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome. - Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders. - Certain viral infections during pregnancy - Preterm birth Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Developmental Disabilities +What is (are) Creatinine ?,"Creatinine is a waste product in your blood. It comes from protein in your diet and the normal breakdown of muscles of your body. Creatinine is removed from blood by the kidneys and then passes out of the body in your urine. If you have kidney disease, the level of creatinine in your blood increases. Blood (serum) and urine tests can check your creatinine levels. The tests are done to check how well your kidneys are working. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Creatinine +What is (are) Head Lice ?,"Head lice are parasitic wingless insects. They live on people's heads and feed on their blood. An adult louse is about the size of a sesame seed. The eggs, called nits, are even smaller - about the size of a knot in thread. Lice and nits are found on or near the scalp, most often at the neckline and behind the ears. Lice spread by close person-to-person contact. It is possible, but not common, to get lice by sharing personal belongings such as hats or hairbrushes. Children ages 3-11 and their families get head lice most often. Personal hygiene has nothing to do with getting head lice. Head lice do not spread disease. Symptoms are - Tickling feeling in the hair - Frequent itching - Sores from scratching - Irritability and difficulty sleeping. Head lice are most active in the dark. Treatment is recommended for people who have an active infestation of head lice. All household members and other close contacts should be checked and treated if necessary. Some experts also recommend treating anyone who shares a bed with an infested person. It is important to treat everyone at the same time. Centers for Disease Control and Prevention",MPlusHealthTopics,Head Lice +What is (are) Chest Injuries and Disorders ?,"The chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity. Chest injuries and disorders include - Heart diseases - Lung diseases and collapsed lung - Pleural disorders - Esophagus disorders - Broken ribs - Thoracic aortic aneurysms - Disorders of the mediastinum, the space between the lungs, breastbone, and spine",MPlusHealthTopics,Chest Injuries and Disorders +What is (are) Cystic Fibrosis ?,"Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Cystic Fibrosis +What is (are) Obesity ?,"Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Obesity +What is (are) Nasal Cancer ?,"Your paranasal sinuses are small hollow spaces around the nose. They are lined with cells that make mucus, which keeps your nose from drying out. The nasal cavity is the passageway just behind your nose. Air passes through it on the way to your throat as you breathe. Cancer of the nasal cavity and paranasal sinuses is rare. You are at greater risk if you are - Male and over 40 years old - Exposed to certain workplace chemicals - Infected with HPV - A smoker There may be no symptoms at first, and later symptoms can be like those of infections. Doctors diagnose nasal cancer with imaging tests, lighted tube-like instruments that look inside the nose, and biopsies. Treatment options include surgery, radiation, and chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Nasal Cancer +What is (are) Burns ?,"A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns: - First-degree burns damage only the outer layer of skin - Second-degree burns damage the outer layer and the layer underneath - Third-degree burns damage or destroy the deepest layer of skin and tissues underneath Burns can cause swelling, blistering, scarring and, in serious cases, shock and even death. They also can lead to infections because they damage your skin's protective barrier. Treatment for burns depends on the cause of the burn, how deep it is, and how much of the body it covers. Antibiotic creams can prevent or treat infections. For more serious burns, treatment may be needed to clean the wound, replace the skin, and make sure the patient has enough fluids and nutrition. NIH: National Institute of General Medical Sciences",MPlusHealthTopics,Burns +Do you have information about Children's Page,"Summary : Kids, this page is for you. Learn about everything from how the body works to what happens when you go to the hospital. There are quizzes, games and lots of cool web sites for you to explore. Have fun!",MPlusHealthTopics,Children's Page +What is (are) Female Infertility ?,"Infertility means not being able to get pregnant after at least one year of trying (or 6 months if the woman is over age 35). If a woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, hormone problems, and lifestyle or environmental factors. Most cases of infertility in women result from problems with producing eggs. In premature ovarian failure, the ovaries stop functioning before natural menopause. In polycystic ovary syndrome (PCOS), the ovaries may not release an egg regularly or they may not release a healthy egg. About a third of the time, infertility is because of a problem with the woman. One third of the time, it is a problem with the man. Sometimes no cause can be found. If you think you might be infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technologies. Happily, many couples treated for infertility are able to have babies. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Female Infertility +What is (are) Osteoporosis ?,"Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include - Getting older - Being small and thin - Having a family history of osteoporosis - Taking certain medicines - Being a white or Asian woman - Having osteopenia, which is low bone density Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Osteoporosis +Do you have information about Radiation Exposure,"Summary : Radiation is energy that travels in the form of waves or high-speed particles. It occurs naturally in sunlight. Man-made radiation is used in X-rays, nuclear weapons, nuclear power plants and cancer treatment. If you are exposed to small amounts of radiation over a long time, it raises your risk of cancer. It can also cause mutations in your genes, which you could pass on to any children you have after the exposure. A lot of radiation over a short period, such as from a radiation emergency, can cause burns or radiation sickness. Symptoms of radiation sickness include nausea, weakness, hair loss, skin burns and reduced organ function. If the exposure is large enough, it can cause premature aging or even death. You may be able to take medicine to reduce the radioactive material in your body. Environmental Protection Agency",MPlusHealthTopics,Radiation Exposure +What is (are) Thyroid Diseases ?,"Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include - Goiter - enlargement of the thyroid gland - Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs - Hypothyroidism - when your thyroid gland does not make enough thyroid hormones - Thyroid cancer - Thyroid nodules - lumps in the thyroid gland - Thyroiditis - swelling of the thyroid Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Thyroid Diseases +What is (are) Urinary Incontinence ?,"Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men. Most bladder control problems happen when muscles are too weak or too active. If the muscles that keep your bladder closed are weak, you may have accidents when you sneeze, laugh or lift a heavy object. This is stress incontinence. If bladder muscles become too active, you may feel a strong urge to go to the bathroom when you have little urine in your bladder. This is urge incontinence or overactive bladder. There are other causes of incontinence, such as prostate problems and nerve damage. Treatment depends on the type of problem you have and what best fits your lifestyle. It may include simple exercises, medicines, special devices or procedures prescribed by your doctor, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Urinary Incontinence +What is (are) Heart Diseases--Prevention ?,"Heart disease is the leading cause of death in the U.S. It is also a major cause of disability. The risk of heart disease increases as you age. You have a greater risk of heart disease if you are a man over age 45 or a woman over age 55. You also are at greater risk if you have a close family member who had heart disease at an early age. Fortunately, there are many things you can do reduce your chances of getting heart disease. You should - Know your blood pressure and keep it under control - Exercise regularly - Don't smoke - Get tested for diabetes and if you have it, keep it under control - Know your cholesterol and triglyceride levels and keep them under control - Eat a lot of fruits and vegetables - Maintain a healthy weight",MPlusHealthTopics,Heart Diseases--Prevention +What is (are) Charcot-Marie-Tooth Disease ?,"Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Charcot-Marie-Tooth Disease +Do you have information about Cloning,"Summary : Cloning describes the processes used to create an exact genetic replica of another cell, tissue or organism. The copied material, which has the same genetic makeup as the original, is referred to as a clone. The most famous clone was a Scottish sheep named Dolly. There are three different types of cloning: - Gene cloning, which creates copies of genes or segments of DNA - Reproductive cloning, which creates copies of whole animals - Therapeutic cloning, which creates embryonic stem cells. Researchers hope to use these cells to grow healthy tissue to replace injured or diseased tissues in the human body. NIH: National Human Genome Research Institute",MPlusHealthTopics,Cloning +What is (are) Atrial Fibrillation ?,"An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. Often, people who have AF may not even feel symptoms. But you may feel - Palpitations -- an abnormal rapid heartbeat - Shortness of breath - Weakness or difficulty exercising - Chest pain - Dizziness or fainting - Fatigue - Confusion AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure. Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Atrial Fibrillation +Do you have information about Vitamin K,"Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin K helps your body by making proteins for healthy bones and tissues. It also makes proteins for blood clotting. If you don't have enough vitamin K, you may bleed too much. Newborns have very little vitamin K. They usually get a shot of vitamin K soon after they are born. If you take blood thinners, you need to be careful about how much vitamin K you get. You also need to be careful about taking vitamin E supplements. Vitamin E can interfere with how vitamin K works in your body. Ask your health care provider for recommendations about these vitamins. There are different types of vitamin K. Most people get vitamin K from plants such as green vegetables, and dark berries. Bacteria in your intestines also produce small amounts of another type of vitamin K.",MPlusHealthTopics,Vitamin K +What is (are) Piercing and Tattoos ?,"Piercings and tattoos are body decorations that go back to ancient times. Body piercing involves making a hole in the skin so that you can insert jewelry. This is often in the earlobe, but can be in other parts of the body. Tattoos are designs on the skin made with needles and colored ink. A permanent tattoo is meant to last forever. Permanent makeup is a type of tattoo. The health risks of piercings and tattoos include - Allergic reactions - Keloids, a type of scar that forms during healing - Infections, such as hepatitis To reduce the risks, make sure that the facility is clean, safe and has a good reputation. Proper sterilization of the equipment is important. Be sure to follow the instructions on caring for your skin. Holes from piercing usually close up if you no longer wear the jewelry. It is possible to remove tattoos, but it's painful and can cause scarring.",MPlusHealthTopics,Piercing and Tattoos +What is (are) Traumatic Brain Injury ?,"Traumatic brain injury (TBI) happens when a bump, blow, jolt, or other head injury causes damage to the brain. Every year, millions of people in the U.S. suffer brain injuries. More than half are bad enough that people must go to the hospital. The worst injuries can lead to permanent brain damage or death. Half of all TBIs are from motor vehicle accidents. Military personnel in combat zones are also at risk. Symptoms of a TBI may not appear until days or weeks following the injury. A concussion is the mildest type. It can cause a headache or neck pain, nausea, ringing in the ears, dizziness, and tiredness. People with a moderate or severe TBI may have those, plus other symptoms: - A headache that gets worse or does not go away - Repeated vomiting or nausea - Convulsions or seizures - Inability to awaken from sleep - Slurred speech - Weakness or numbness in the arms and legs - Dilated eye pupils Health care professionals use a neurological exam and imaging tests to assess TBI. Serious traumatic brain injuries need emergency treatment. Treatment and outcome depend on how severe the injury is. TBI can cause a wide range of changes affecting thinking, sensation, language, or emotions. TBI can be associated with post-traumatic stress disorder. People with severe injuries usually need rehabilitation. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Traumatic Brain Injury +Do you have information about Internet Safety,"Summary : For most kids and teens, technology is an important part of their lives. They browse the Web for information, use social networking sites, text, and chat. But there can also be dangers, and it is important for parents to monitor their children's use and teach them how to be safe online: - Never give out personal information, such as your full name, address, phone number, or school name - Tell an adult if any communication (chat, text, e-mail message) makes you feel threatened or uncomfortable - Never send sexually explicit photographs or messages - On social networking sites, use privacy controls and only friend people that you know Of course, some of this advice is good for adults, too.",MPlusHealthTopics,Internet Safety +What is (are) Birthmarks ?,"Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks. No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery. Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.",MPlusHealthTopics,Birthmarks +What is (are) Rheumatoid Arthritis ?,"Rheumatoid arthritis (RA) is a form of arthritis that causes pain, swelling, stiffness and loss of function in your joints. It can affect any joint but is common in the wrist and fingers. More women than men get rheumatoid arthritis. It often starts in middle age and is most common in older people. You might have the disease for only a short time, or symptoms might come and go. The severe form can last a lifetime. Rheumatoid arthritis is different from osteoarthritis, the common arthritis that often comes with older age. RA can affect body parts besides joints, such as your eyes, mouth and lungs. RA is an autoimmune disease, which means the arthritis results from your immune system attacking your body's own tissues. No one knows what causes rheumatoid arthritis. Genes, environment, and hormones might contribute. Treatments include medicine, lifestyle changes, and surgery. These can slow or stop joint damage and reduce pain and swelling. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Rheumatoid Arthritis +What is (are) Chest Pain ?,"Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including - Other heart problems, such as angina - Panic attacks - Digestive problems, such as heartburn or esophagus disorders - Sore muscles - Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism - Costochondritis - an inflammation of joints in your chest Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.",MPlusHealthTopics,Chest Pain +What is (are) Marfan Syndrome ?,"Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Marfan Syndrome +What is (are) Carotid Artery Disease ?,"Your carotid arteries are two large blood vessels in your neck. They supply your brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. This is the buildup of cholesterol and other material in an artery. If a blood clot sticks in the narrowed arteries, blood can't reach your brain. This is one of the causes of stroke. Carotid artery disease often does not cause symptoms, but there are tests that can tell your doctor if you have it. If the arteries are very narrow, you may need an operation called an endarterectomy to remove the plaque. For less severe narrowing, a medicine to prevent blood clots can reduce your risk of stroke. Another option for people who can't have surgery is carotid angioplasty. This involves placing balloons and/or stents into the artery to open it and hold it open.",MPlusHealthTopics,Carotid Artery Disease +What is (are) Brachial Plexus Injuries ?,"The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include - A limp or paralyzed arm - Lack of muscle control in the arm, hand, or wrist - Lack of feeling or sensation in the arm or hand Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. Sometimes they happen during childbirth when a baby's shoulders become stuck during delivery and the nerves stretch or tear. Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment includes physical therapy and, in some cases, surgery. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Brachial Plexus Injuries +What is (are) Chronic Lymphocytic Leukemia ?,"Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic lymphocytic leukemia (CLL), there are too many lymphocytes, a type of white blood cell. CLL is the second most common type of leukemia in adults. It often occurs during or after middle age, and is rare in children. Usually CLL does not cause any symptoms. If you have symptoms, they may include - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin - Fatigue - Pain or a feeling of fullness below the ribs - Fever and infection - Weight loss Tests that examine the blood, bone marrow, and lymph nodes diagnose CLL. Your doctor may choose to just monitor you until symptoms appear or change. Treatments include radiation therapy, chemotherapy, surgery to remove the spleen, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Chronic Lymphocytic Leukemia +What is (are) Usher Syndrome ?,"Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision. There are three types of Usher syndrome: - People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually start by age 10 and lead to blindness. - People with type II have moderate to severe hearing loss and normal balance. Vision problems start in the early teens and get worse more slowly than in type I. - People with type III are born with normal hearing and near-normal balance but develop vision problems and then hearing loss. There is no cure. Tools such as hearing aids or cochlear implants can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Usher Syndrome +What is (are) Creutzfeldt-Jakob Disease ?,"Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year. The three main categories of CJD are - Sporadic CJD, which occurs for no known reason - Hereditary CJD, which runs in families - Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or ""mad cow disease."" There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Creutzfeldt-Jakob Disease +What is (are) Leishmaniasis ?,"Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver, and bone marrow. People with this form usually have fever, weight loss, and an enlarged spleen and liver. Leishmaniasis is found in parts of about 88 countries. Most of these countries are in the tropics and subtropics. It is possible but very unlikely that you would get this disease in the United States. But you should be aware of it if you are traveling to the Middle East or parts of Central America, South America, Asia, Africa or southern Europe. Treatment is with medicines that contain antimony, a type of metal, or with strong antibiotics. The best way to prevent the disease is to protect yourself from sand fly bites: - Stay indoors from dusk to dawn, when sand flies are the most active - Wear long pants and long-sleeved shirts when outside - Use insect repellent and bed nets as needed Centers for Disease Control and Prevention",MPlusHealthTopics,Leishmaniasis +What is (are) Facial Injuries and Disorders ?,"Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect.",MPlusHealthTopics,Facial Injuries and Disorders +What is (are) Health Checkup ?,"Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment and cure are better. Which exams and screenings you need depends on your age, health and family history, and lifestyle choices such as what you eat, how active you are, and whether you smoke. To make the most of your next check-up, here are some things to do before you go: - Review your family health history - Find out if you are due for any general screenings or vaccinations - Write down a list of issues and questions to take with you Centers for Disease Control and Prevention",MPlusHealthTopics,Health Checkup +What is (are) Heart Attack ?,"Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. Those symptoms include - Chest discomfort - pressure, squeezing, or pain - Shortness of breath - Discomfort in the upper body - arms, shoulder, neck, back - Nausea, vomiting, dizziness, lightheadedness, sweating These symptoms can sometimes be different in women. What exactly is a heart attack? Most heart attacks happen when a clot in the coronary artery blocks the supply of blood and oxygen to the heart. Often this leads to an irregular heartbeat - called an arrhythmia - that causes a severe decrease in the pumping function of the heart. A blockage that is not treated within a few hours causes the affected heart muscle to die. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Attack +What is (are) Edema ?,"Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include - Eating too much salt - Sunburn - Heart failure - Kidney disease - Liver problems from cirrhosis - Pregnancy - Problems with lymph nodes, especially after mastectomy - Some medicines - Standing or walking a lot when the weather is warm To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill.",MPlusHealthTopics,Edema +What is (are) Pulmonary Embolism ?,"A pulmonary embolism is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a serious condition that can cause - Permanent damage to the affected lung - Low oxygen levels in your blood - Damage to other organs in your body from not getting enough oxygen If a clot is large, or if there are many clots, pulmonary embolism can cause death. Half the people who have pulmonary embolism have no symptoms. If you do have symptoms, they can include shortness of breath, chest pain or coughing up blood. Symptoms of a blood clot include warmth, swelling, pain, tenderness and redness of the leg. The goal of treatment is to break up clots and help keep other clots from forming. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pulmonary Embolism +What is (are) E. Coli Infections ?,"E. coli is the name of a type of bacteria that lives in your intestines. Most types of E. coli are harmless. However, some types can make you sick and cause diarrhea. One type causes travelers' diarrhea. The worst type of E. coli causes bloody diarrhea, and can sometimes cause kidney failure and even death. These problems are most likely to occur in children and in adults with weak immune systems. You can get E. coli infections by eating foods containing the bacteria. Symptoms of infection include - Nausea or vomiting - Severe abdominal cramps - Watery or very bloody diarrhea - Fatigue - Fever To help avoid food poisoning and prevent infection, handle food safely. Cook meat well, wash fruits and vegetables before eating or cooking them, and avoid unpasteurized milk and juices. You can also get the infection by swallowing water in a swimming pool contaminated with human waste. Most cases of E. coli infection get better without treatment in 5 to 10 days. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,E. Coli Infections +What is (are) Preterm Labor ?,"Preterm labor is labor that starts before 37 completed weeks of pregnancy. It can lead to premature birth. Premature babies may face serious health risks. Symptoms of preterm labor include - Contractions every 10 minutes or more often - Leaking fluid or bleeding from the vagina - Feeling of pressure in the pelvis - Low, dull backache - Cramps that feel like menstrual cramps - Abdominal cramps with or without diarrhea If you think you might be having preterm labor, contact your health care provider. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Preterm Labor +What is (are) Elbow Injuries and Disorders ?,"Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems. Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach muscle to bone. Tendinitis of the elbow is a sports injury, often from playing tennis or golf. You may also get tendinitis from overuse of the elbow. Other causes of elbow pain include sprains, strains, fractures, dislocations, bursitis and arthritis. Treatment depends on the cause.",MPlusHealthTopics,Elbow Injuries and Disorders +Do you have information about Teen Violence,"Summary : Teen violence refers to harmful behaviors that can start early and continue into young adulthood. The young person can be a victim, an offender, or a witness to the violence. Violent acts can include - Bullying - Fighting, including punching, kicking, slapping, or hitting - Use of weapons such as guns or knives Some violent acts can cause more emotional harm than physical harm. Others can lead to serious injury or even death. An important risk factor for violence in teens is the behavior of their friends and classmates. You should know who your kids hang out with and encourage healthy behavior and relationships. Centers for Disease Control and Prevention",MPlusHealthTopics,Teen Violence +What is (are) Interstitial Cystitis ?,"Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. It is far more common in women than in men. The symptoms vary from person to person. Some people may have pain without urgency or frequency. Others have urgency and frequency without pain. Women's symptoms often get worse during their periods. They may also have pain with sexual intercourse. The cause of IC isn't known. There is no one test to tell if you have it. Doctors often run tests to rule out other possible causes of symptoms. There is no cure for IC, but treatments can help most people feel better. They include - Distending, or inflating, the bladder - Bathing the inside of the bladder with a drug solution - Oral medicines - Electrical nerve stimulation - Physical therapy - Lifestyle changes - Bladder training - In rare cases, surgery NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Interstitial Cystitis +What is (are) Reye Syndrome ?,"Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently had a viral infection. It always follows another illness. Although it mostly affects children and teens, anyone can get it. It can develop quickly and without warning. It is most common during flu season. Symptoms include - Nausea and vomiting - Listlessness - Personality change - such as irritability, combativeness or confusion - Delirium - Convulsions - Loss of consciousness If these symptoms occur soon after a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, so quick diagnosis and treatment are critical. Treatment focuses on preventing brain damage. There is no cure. The cause of Reye syndrome is unknown. Studies have shown that taking aspirin increases the risk of getting it. Because of that, health care professionals now recommend other pain relievers for young patients. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Reye Syndrome +What is (are) Asthma in Children ?,"Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. In the United States, about 20 million people have asthma. Nearly 9 million of them are children. Children have smaller airways than adults, which makes asthma especially serious for them. Children with asthma may experience wheezing, coughing, chest tightness, and trouble breathing, especially early in the morning or at night. Many things can cause asthma, including - Allergens - mold, pollen, animals - Irritants - cigarette smoke, air pollution - Weather - cold air, changes in weather - Exercise - Infections - flu, common cold When asthma symptoms become worse than usual, it is called an asthma attack. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms.",MPlusHealthTopics,Asthma in Children +What is (are) Rh Incompatibility ?,"There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. Rh factor is inherited though genes. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. It will create antibodies (proteins) against the baby's blood. These antibodies usually don't cause problems during a first pregnancy. But Rh incompatibility may cause problems in later pregnancies, if the baby is Rh-positive. This is because the antibodies stay in your body once they have formed. The antibodies can cross the placenta and attack the baby's red blood cells. The baby could get Rh disease, a serious condition that can cause a serious type of anemia. Blood tests can tell whether you have Rh factor and whether your body has made antibodies. Injections of a medicine called Rh immune globulin can keep your body from making Rh antibodies. It helps prevent the problems of Rh incompatibility. If treatment is needed for the baby, it can include supplements to help the body to make red blood cells and blood transfusions. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Rh Incompatibility +What is (are) Seizures ?,"Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Seizures +What is (are) Back Injuries ?,"Your back is made of bones, muscles, and other tissues extending from your neck to your pelvis. Back injuries can result from sports injuries, work around the house or in the garden, or a sudden jolt such as a car accident. The lower back is the most common site of back injuries and back pain. Common back injuries include - Sprains and strains - Herniated disks - Fractured vertebrae These injuries can cause pain and limit your movement. Treatments vary but might include medicines, icing, bed rest, physical therapy, or surgery. You might be able to prevent some back injuries by maintaining a healthy weight, lifting objects with your legs, and using lower-back support when you sit.",MPlusHealthTopics,Back Injuries +What is (are) Miscarriage ?,"A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage. Factors that may contribute to miscarriage include - A genetic problem with the fetus. This is the most common cause in the first trimester. - Problems with the uterus or cervix. These contribute in the second trimester. - Polycystic ovary syndrome Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately. Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Miscarriage +Do you have information about Asbestos,"Summary : Asbestos is the name of a group of minerals with long, thin fibers. It was once used widely as insulation. It also occurs in the environment. Asbestos fibers are so small you can't see them. If you disturb asbestos, the fibers can float in the air. This makes them easy to inhale, and some may become lodged in the lungs. If you breathe in high levels of asbestos over a long period of time, the fibers can build up in the lungs. This causes scarring and inflammation, and can affect breathing. Eventually it can lead to diseases such as - Asbestosis, or scarring of the lungs that makes it hard to breathe - Mesothelioma, a rare cancer that affects the lining of the lungs or abdomen - Lung cancer Lung diseases associated with asbestos usually develop over many years. People who become ill from asbestos are usually exposed on the job over long periods of time. Smoking cigarettes increases the risk. Agency for Toxic Substances and Disease Registry",MPlusHealthTopics,Asbestos +Do you have information about Infant and Newborn Nutrition,"Summary : Food provides the energy and nutrients that babies need to be healthy. For a baby, breast milk is best. It has all the necessary vitamins and minerals. Infant formulas are available for babies whose mothers are not able or decide not to breastfeed. Infants usually start eating solid foods between 4 and 6 months of age. Check with your health care provider for the best time for your baby to start. If you introduce one new food at a time, you will be able to identify any foods that cause allergies in your baby. Some foods to stay away from include - Eggs - Honey - Peanuts (including peanut butter) - Other tree nuts",MPlusHealthTopics,Infant and Newborn Nutrition +Do you have information about Cervical Cancer Screening,"Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. Cervical cancer screening is usually part of a woman's health checkup. There are two types of tests: the Pap test and the HPV test. For both, the doctor or nurse collects cells from the surface of the cervix. With the Pap test, the lab checks the sample for cancer cells or abnormal cells that could become cancer later. With the HPV test, the lab checks for HPV infection. HPV is a virus that spreads through sexual contact. It can sometimes lead to cancer. If your screening tests are abnormal, your doctor may do more tests, such as a biopsy. Cervical cancer screening has risks. The results can sometimes be wrong, and you may have unnecessary follow-up tests. There are also benefits. Screening has been shown to decrease the number of deaths from cervical cancer. You and your doctor should discuss your risk for cervical cancer, the pros and cons of the screening tests, at what age to start being screened, and how often to be screened.",MPlusHealthTopics,Cervical Cancer Screening +What is (are) Anesthesia ?,"If you are having surgery, your doctor will give you medicine called an anesthetic. Anesthetics reduce or prevent pain. There are three main types: - Local - numbs one small area of the body. You stay awake and alert. - Regional - blocks pain in an area of the body, such an arm or leg. A common type is epidural anesthesia, which is often used during childbirth. - General - makes you unconscious. You do not feel any pain, and you do not remember the procedure afterwards. You may also get a mild sedative to relax you. You stay awake but may not remember the procedure afterwards. Sedation can be used with or without anesthesia. The type of anesthesia or sedation you get depends on many factors. They include the procedure you are having and your current health.",MPlusHealthTopics,Anesthesia +Do you have information about Child Dental Health,"Summary : Healthy teeth are important to your child's overall health. From the time your child is born, there are things you can do to promote healthy teeth and prevent cavities. For babies, you should clean teeth with a soft, clean cloth or baby's toothbrush. Avoid putting the baby to bed with a bottle and check teeth regularly for spots or stains. For all children, you should - Start using a pea-sized amount of fluoride toothpaste when they are two years old. You might start sooner, if a dentist or doctor suggests it. - Provide healthy foods and limit sweet snacks and drinks - Schedule regular dental check-ups Forming good habits at a young age can help your child have healthy teeth for life. NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Child Dental Health +Do you have information about Ostomy,"Summary : An ostomy is surgery to create an opening (stoma) from an area inside the body to the outside. It treats certain diseases of the digestive or urinary systems. It can be permanent, when an organ must be removed. It can be temporary, when the organ needs time to heal. The organ could be the small intestine, colon, rectum, or bladder. With an ostomy, there must be a new way for wastes to leave the body. There are many different types of ostomy. Some examples are - Ileostomy - the bottom of the small intestine (ileum) is attached to the stoma. This bypasses the colon, rectum and anus. - Colostomy - the colon is attached to the stoma. This bypasses the rectum and the anus. - Urostomy - the tubes that carry urine to the bladder are attached to the stoma. This bypasses the bladder. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Ostomy +What is (are) Osteonecrosis ?,"Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down. You can have osteonecrosis in one or several bones. It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. The disease can affect men and women of any age, but it usually strikes in your thirties, forties or fifties. At first, you might not have any symptoms. As the disease gets worse, you will probably have joint pain that becomes more severe. You may not be able to bend or move the affected joint very well. No one is sure what causes the disease. Risk factors include - Long-term steroid treatment - Alcohol abuse - Joint injuries - Having certain diseases, including arthritis and cancer Doctors use imaging tests and other tests to diagnose osteonecrosis. Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Osteonecrosis +Do you have information about Tears,"Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of your eye. Problems with the tear system can include too many tears, too few tears, or problems with the tear ducts. Treatment of the problem depends on the cause.",MPlusHealthTopics,Tears +What is (are) Anal Disorders ?,"The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain or bleeding. The more details you can give about your problem, the better your doctor will be able to help you. Treatments vary depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Anal Disorders +What is (are) Diabetes Type 1 ?,"Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include - Being very thirsty - Urinating often - Feeling very hungry or tired - Losing weight without trying - Having sores that heal slowly - Having dry, itchy skin - Losing the feeling in your feet or having tingling in your feet - Having blurry eyesight A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes Type 1 +What is (are) Spinal Cord Injuries ?,"Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or dislocates your vertebrae, the bone disks that make up your spine. Most injuries don't cut through your spinal cord. Instead, they cause damage when pieces of vertebrae tear into cord tissue or press down on the nerve parts that carry signals. Spinal cord injuries can be complete or incomplete. With a complete spinal cord injury, the cord can't send signals below the level of the injury. As a result, you are paralyzed below the injury. With an incomplete injury, you have some movement and sensation below the injury. A spinal cord injury is a medical emergency. Immediate treatment can reduce long-term effects. Treatments may include medicines, braces or traction to stabilize the spine, and surgery. Later treatment usually includes medicines and rehabilitation therapy. Mobility aids and assistive devices may help you to get around and do some daily tasks. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Spinal Cord Injuries +What is (are) Yeast Infections ?,"Candida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in your body. Usually, your immune system keeps yeast under control. If you are sick or taking antibiotics, it can multiply and cause an infection. Yeast infections affect different parts of the body in different ways: - Thrush is a yeast infection that causes white patches in your mouth - Candida esophagitis is thrush that spreads to your esophagus, the tube that takes food from your mouth to your stomach. It can make it hard or painful to swallow. - Women can get vaginal yeast infections, causing itchiness, pain and discharge - Yeast infections of the skin cause itching and rashes - Yeast infections in your bloodstream can be life-threatening Antifungal medicines get rid of yeast infections in most people. If you have a weak immune system, treatment might be more difficult.",MPlusHealthTopics,Yeast Infections +What is (are) Diabetes in Children and Teens ?,"Until recently, the common type of diabetes in children and teens was type 1. It was called juvenile diabetes. With Type 1 diabetes, the pancreas does not make insulin. Insulin is a hormone that helps glucose,or sugar, get into your cells to give them energy. Without insulin, too much sugar stays in the blood. But now younger people are also getting type 2 diabetes. Type 2 diabetes used to be called adult-onset diabetes. But now it is becoming more common in children and teens, due to more obesity. With Type 2 diabetes, the body does not make or use insulin well. Children have a higher risk of type 2 diabetes if they are obese, have a family history of diabetes, or are not active, and do not eat well. To lower the risk of type 2 diabetes in children - Have them maintain a healthy weight - Be sure they are physically active - Have them eat smaller portions of healthy foods - Limit time with the TV, computer, and video Children and teens with type 1 diabetes may need to take insulin. Type 2 diabetes may be controlled with diet and exercise. If not, patients will need to take oral diabetes medicines or insulin. A blood test called the A1C can check on how you are managing your diabetes.",MPlusHealthTopics,Diabetes in Children and Teens +What is (are) Chronic Pain ?,"Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause. Problems that cause chronic pain include - Headache - Low back strain - Cancer - Arthritis - Pain from nerve damage Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Chronic Pain +What is (are) Cleft Lip and Palate ?,"Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the ""palate."" With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention",MPlusHealthTopics,Cleft Lip and Palate +Do you have information about Teen Development,"Summary : As a teenager, you go through many physical, mental, emotional, and social changes. The biggest change is puberty, the process of becoming sexually mature. It usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. As your body changes, you may have questions about sexual health. During this time, you start to develop your own unique personality and opinions. Some changes that you might notice include - Increased independence from your parents - More concerns about body image and clothes - More influence from peers - Greater ability to sense right and wrong All of these changes can sometimes seem overwhelming. Some sadness or moodiness can be normal. But feeling very sad, hopeless, or worthless could be warning signs of a mental health problem. If you need help, talk to your parents, school counselor, or health care provider. Centers for Disease Control and Prevention",MPlusHealthTopics,Teen Development +What is (are) Home Care Services ?,"Home care is care that allows a person with special needs stay in their home. It might be for people who are getting older, are chronically ill, recovering from surgery, or disabled. Home care services include - Personal care, such as help with bathing, washing your hair, or getting dressed - Homemaking, such as cleaning, yard work, and laundry - Cooking or delivering meals - Health care, such as having a home health aide come to your home You can get almost any type of help you want in your home. Some types of care and community services are free or donated. Many other types you have to pay for. Sometimes government programs or your health insurance will help cover the cost of certain home care services.",MPlusHealthTopics,Home Care Services +Do you have information about Dietary Proteins,"Summary : Protein is in every cell in the body. Our bodies need protein from the foods we eat to build and maintain bones, muscles and skin. We get proteins in our diet from meat, dairy products, nuts, and certain grains and beans. Proteins from meat and other animal products are complete proteins. This means they supply all of the amino acids the body can't make on its own. Plant proteins are incomplete. You must combine different types of plant proteins to get all of the amino acids your body needs. It is important to get enough dietary protein. You need to eat protein every day, because your body doesn't store it the way it stores fats or carbohydrates. How much you need depends on your age, sex, health, and level of physical activity. Most Americans eat enough protein in their diet.",MPlusHealthTopics,Dietary Proteins +Do you have information about Stroke Rehabilitation,Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with the senses - Problems using or understanding language - Problems with thinking and memory - Emotional disturbances Stroke rehabilitation involves many kinds of health professionals. The goal is to help survivors become as independent as possible and to have the best possible quality of life. NIH: National Institute of Neurological Disorders and Stroke,MPlusHealthTopics,Stroke Rehabilitation +Do you have information about Skin Aging,"Summary : Your skin changes as you age. You might notice wrinkles, age spots and dryness. Your skin also becomes thinner and loses fat, making it less plump and smooth. It might take longer to heal, too. Sunlight is a major cause of skin aging. You can protect yourself by staying out of the sun when it is strongest, using sunscreen with an SPF of 15 or higher, wearing protective clothing, and avoiding sunlamps and tanning beds. Cigarette smoking also contributes to wrinkles. The wrinkling increases with the amount of cigarettes and number of years a person has smoked. Many products claim to revitalize aging skin or reduce wrinkles, but the Food and Drug Administration has approved only a few for sun-damaged or aging skin. Various treatments soothe dry skin and reduce the appearance of age spots. NIH: National Institute on Aging",MPlusHealthTopics,Skin Aging +What is (are) Fifth Disease ?,"Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low fever, cold symptoms, and a headache. Then you get a red rash on your face. It looks like a ""slapped cheek."" The rash can spread to the arms, legs, and trunk. Adults who get it might also have joint pain and swelling. Fifth disease spreads easily, through saliva and mucus. You can get it when an infected person coughs or sneezes. Frequently washing your hands might help prevent getting the virus. Most people become immune to the virus after having it once. Fifth disease is usually mild and goes away on its own. However, it can be serious if you - Are pregnant - Are anemic - Have cancer or a weak immune system Centers for Disease Control and Prevention",MPlusHealthTopics,Fifth Disease +What is (are) Skin Infections ?,"Your skin helps protect you from germs, but sometimes it can get infected by them. Some common types of skin infections are - Bacterial: Cellulitis and impetigo. Staphylococcal infections can also affect the skin. - Viral: Shingles, warts, and herpes simplex - Fungal: Athlete's foot and yeast infections - Parasitic: Body lice, head lice, and scabies Treatment of skin infections depends on the cause.",MPlusHealthTopics,Skin Infections +Do you have information about Health Fraud,"Summary : Health fraud involves selling drugs, devices, foods, or cosmetics that have not been proven effective. Keep in mind - if it sounds too good to be true, it's probably a scam. At best, these scams don't work. At worst, they're dangerous. They also waste money, and they might keep you from getting the treatment you really need. Health fraud scams can be found everywhere, promising help for many common health issues, including weight loss, memory loss, sexual performance, and joint pain. They target people with serious conditions like cancer, diabetes, heart disease, HIV/AIDS, arthritis, Alzheimer's, and many more. To protect yourself, recognize the red flags such as: - Miracle cure - Quick fix - Ancient remedy - Secret ingredient - Scientific breakthrough Before taking an unproven or little known treatment, talk to a doctor or health care professional - especially when taking prescription drugs. Food and Drug Administration",MPlusHealthTopics,Health Fraud +What is (are) Oral Cancer ?,"Oral cancer can form in any part of the mouth or throat. Most oral cancers begin in the tongue and in the floor of the mouth. Anyone can get oral cancer, but the risk is higher if you are male, over age 40, use tobacco or alcohol or have a history of head or neck cancer. Frequent sun exposure is also a risk for lip cancer. Symptoms of oral cancer include - White or red patches in your mouth - A mouth sore that won't heal - Bleeding in your mouth - Loose teeth - Problems or pain with swallowing - A lump in your neck - An earache Oral cancer treatments may include surgery, radiation therapy or chemotherapy. Some patients have a combination of treatments. NIH: National Cancer Institute",MPlusHealthTopics,Oral Cancer +What is (are) Lupus ?,"If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. Discoid lupus causes a rash that doesn't go away. Subacute cutaneous lupus causes sores after being out in the sun. Another type can be caused by medication. Neonatal lupus, which is rare, affects newborns. Anyone can get lupus, but women are most at risk. Lupus is also more common in African American, Hispanic, Asian and Native American women. The cause of lupus is not known. Lupus has many symptoms. Some common ones are - Joint pain or swelling - Muscle pain - Fever with no known cause - Fatigue - Red rashes, often on the face (also called the ""butterfly rash"") There is no one test to diagnose lupus, and it may take months or years to make the diagnosis. There is no cure for lupus, but medicines and lifestyle changes can help control it. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Lupus +What is (are) Peptic Ulcer ?,"A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain - Starts between meals or during the night - Briefly stops if you eat or take antacids - Lasts for minutes to hours - Comes and goes for several days or weeks Peptic ulcers happen when the acids that help you digest food damage the walls of the stomach or duodenum. The most common cause is infection with a bacterium called Helicobacter pylori. Another cause is the long-term use of nonsteroidal anti-inflammatory medicines (NSAIDs) such as aspirin and ibuprofen. Stress and spicy foods do not cause ulcers, but can make them worse. To see if you have an H. pylori infection, your doctor will test your blood, breath, or stool. Your doctor also may look inside your stomach and duodenum by doing an endoscopy or x-ray. Peptic ulcers will get worse if not treated. Treatment may include medicines to reduce stomach acids or antibiotics to kill H. pylori. Antacids and milk can't heal peptic ulcers. Not smoking and avoiding alcohol can help. You may need surgery if your ulcers don't heal. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Peptic Ulcer +Do you have information about Occupational Health for Healthcare Providers,"Summary : Healthcare workers are exposed to many job hazards. These can include - Infections - Needle injuries - Back injuries - Allergy-causing substances - Violence - Stress Follow good job safety and injury prevention practices. They can reduce your risk of health problems. Use protective equipment, follow infection control guidelines, learn the right way to lift heavy objects, and find ways to manage stress. National Institute for Occupational Safety and Health",MPlusHealthTopics,Occupational Health for Healthcare Providers +Do you have information about Exercise for Seniors,"Summary : Exercise and physical activity are good for just about everyone, including older adults. There are four main types and each type is different. Doing them all will give you more benefits. - Endurance, or aerobic, activities increase your breathing and heart rate. Brisk walking or jogging, dancing, swimming, and biking are examples. - Strength exercises make your muscles stronger. Lifting weights or using a resistance band can build strength. - Balance exercises help prevent falls - Flexibility exercises stretch your muscles and can help your body stay limber NIH: National Institute on Aging",MPlusHealthTopics,Exercise for Seniors +What is (are) Hearing Problems in Children ?,"Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. But about 2 or 3 out of every 1,000 children in the United States are born deaf or hard-of-hearing. More lose their hearing later during childhood. Babies should have a hearing screening before they are a month old. If your child has a hearing loss, it is important to consider the use of hearing devices and other communication options by age 6 months. That's because children start learning speech and language long before they talk. Hearing problems can be temporary or permanent. Sometimes, ear infections, injuries or diseases affect hearing. If your child does not hear well, get help. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Hearing Problems in Children +What is (are) Plague ?,"Plague is an infection caused by the bacterium Yersinia pestis. The bacteria are found mainly in rats and in the fleas that feed on them. People and other animals can get plague from rat or flea bites. In the past, plague destroyed entire civilizations. Today plague is uncommon, due to better living conditions and antibiotics. There are three forms of plague: - Bubonic plague causes the tonsils, adenoids, spleen, and thymus to become inflamed. Symptoms include fever, aches, chills, and tender lymph glands. - In septicemic plague, bacteria multiply in the blood. It causes fever, chills, shock, and bleeding under the skin or other organs. - Pneumonic plague is the most serious form. Bacteria enter the lungs and cause pneumonia. People with the infection can spread this form to others. This type could be a bioterror agent. Lab tests can diagnose plague. Treatment is a strong antibiotic. There is no vaccine. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Plague +What is (are) Cataract ?,"A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are - Blurry vision - Colors that seem faded - Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. - Not being able to see well at night - Double vision - Frequent prescription changes in your eye wear Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute",MPlusHealthTopics,Cataract +What is (are) Meningitis ?,"Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis, which you get when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be deadly. It usually starts with bacteria that cause a cold-like infection. It can block blood vessels in the brain and lead to stroke and brain damage. It can also harm other organs. Pneumococcal infections and meningococcal infections can cause bacterial meningitis. Anyone can get meningitis, but it is more common in people whose bodies have trouble fighting infections. Meningitis can progress rapidly. You should seek medical care quickly if you have - A sudden fever - A severe headache - A stiff neck Early treatment can help prevent serious problems, including death. Vaccines can prevent some of the bacterial infections that cause meningitis. Parents of adolescents and students living in college dorms should talk to a doctor about the vaccination. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Meningitis +What is (are) Norovirus Infections ?,"Noroviruses are a group of related viruses. Infection with these viruses causes an illness called gastroenteritis, an inflammation of the stomach and intestines. It can spread from person to person, or through contaminated food or water. You can also get it if you touch a contaminated surface. Norovirus can be serious, especially for young children and older adults. The most common symptoms of norovirus infection are - Diarrhea - Nausea and vomiting - Stomach pain Other symptoms may include fever, headache or body aches. Treatment includes bed rest and lots of liquids to prevent dehydration. There is no specific medicine to treat norovirus infections. Proper hand washing and safe food preparation may help prevent infections. Centers for Disease Control and Prevention",MPlusHealthTopics,Norovirus Infections +Do you have information about Vitamin E,"Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin E is an antioxidant. It plays a role in your immune system and metabolic processes. Good sources of vitamin E include - Vegetable oils - Margarine - Nuts and seeds - Leafy greens Vitamin E is also added to foods like cereals. Most people get enough vitamin E from the foods they eat. People with certain disorders, such as liver diseases, cystic fibrosis, and Crohn's disease may need extra vitamin E. Vitamin E supplements may be harmful for people who take blood thinners and other medicines. Check with your health care provider before taking the supplements. NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Vitamin E +What is (are) Drowning ?,"People drown when they get too much water in their lungs. You can drown in as little as an inch or two of water. Babies can drown in a sink or bathtub. Preschoolers are most likely to drown in a swimming pool. People who have seizure disorders are also at risk in the water. Drowning can happen quickly and silently. Drowning precautions should include - Fences around pools - Supervising children near any body of water, including tubs - Not swimming or boating when under the influence of alcohol or sedatives - Wearing life jackets when boating - Learning CPR",MPlusHealthTopics,Drowning +What is (are) Sjogren's Syndrome ?,"Sjogren's syndrome is a disease that causes dryness in your mouth and eyes. It can also lead to dryness in other places that need moisture, such as your nose, throat and skin. Most people who get Sjogren's syndrome are older than 40. Nine of 10 are women. Sjogren's syndrome is sometimes linked to rheumatic problems such as rheumatoid arthritis. Sjogren's syndrome is an autoimmune disease. If you have an autoimmune disease, your immune system, which is supposed to fight disease, mistakenly attacks parts of your own body. In Sjogren's syndrome, your immune system attacks the glands that make tears and saliva. It may also affect your joints, lungs, kidneys, blood vessels, digestive organs and nerves. The main symptoms are: - Dry eyes - Dry mouth Treatment focuses on relieving symptoms. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Sjogren's Syndrome +Do you have information about Organ Transplantation,"Summary : You may need an organ transplant if one of your organs has failed. This can happen because of illness or injury. When you have an organ transplant, doctors remove an organ from another person and place it in your body. The organ may come from a living donor or a donor who has died. The organs that can be transplanted include - Heart - Intestine - Kidney - Liver - Lung - Pancreas You often have to wait a long time for an organ transplant. Doctors must match donors to recipients to reduce the risk of transplant rejection. Rejection happens when your immune system attacks the new organ. If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new organ.",MPlusHealthTopics,Organ Transplantation +Do you have information about Foot Health,"Summary : Each step you take involves a complex network of bones, muscles, tendons, and ligaments. This, combined with all of the weight they carry, explains why feet can have problems. To keep your feet healthy - Examine your feet regularly - Wear comfortable shoes that fit - Wash your feet daily with soap and lukewarm water - Trim your toenails straight across and not too short Your foot health can be a clue to your overall health. For example, joint stiffness could mean arthritis. Tingling or numbness could be a sign of diabetes. Swelling might indicate kidney disease, heart disease, or high blood pressure. Good foot care and regular foot checks are an important part of your health care. If you have foot problems, be sure to talk to your doctor. NIH: National Institute on Aging",MPlusHealthTopics,Foot Health +What is (are) Epilepsy ?,"Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Epilepsy +What is (are) Neural Tube Defects ?,"Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal. The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you - Are obese - Have poorly controlled diabetes - Take certain antiseizure medicines Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Neural Tube Defects +What is (are) Divorce ?,"Divorce is the legal breakup of a marriage. Like every major life change, divorce is stressful. It affects finances, living arrangements, household jobs, schedules, and more. If the family includes children, they may be deeply affected.",MPlusHealthTopics,Divorce +What is (are) Streptococcal Infections ?,"Strep is short for Streptococcus, a type of bacteria. There are two types: group A and group B. Group A strep causes - Strep throat - a sore, red throat, sometimes with white spots on the tonsils - Scarlet fever - an illness that follows strep throat. It causes a red rash on the body. - Impetigo - a skin infection - Toxic shock syndrome - Cellulitis and necrotizing fasciitis (flesh-eating disease) Group B strep can cause blood infections, pneumonia and meningitis in newborns. A screening test during pregnancy can tell if you have it. If you do, I.V. antibiotics during labor can save your baby's life. Adults can also get group B strep infections, especially if they are elderly or already have health problems. Strep B can cause urinary tract infections, blood infections, skin infections and pneumonia in adults. Antibiotics are used to treat strep infections. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Streptococcal Infections +What is (are) Gastrointestinal Bleeding ?,"Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. Signs of bleeding in the digestive tract depend where it is and how much bleeding there is. Signs of bleeding in the upper digestive tract include - Bright red blood in vomit - Vomit that looks like coffee grounds - Black or tarry stool - Dark blood mixed with stool Signs of bleeding in the lower digestive tract include - Black or tarry stool - Dark blood mixed with stool - Stool mixed or coated with bright red blood GI bleeding is not a disease, but a symptom of a disease. There are many possible causes of GI bleeding, including hemorrhoids, peptic ulcers, tears or inflammation in the esophagus, diverticulosis and diverticulitis, ulcerative colitis and Crohn's disease, colonic polyps, or cancer in the colon, stomach or esophagus. The test used most often to look for the cause of GI bleeding is called endoscopy. It uses a flexible instrument inserted through the mouth or rectum to view the inside of the GI tract. A type of endoscopy called colonoscopy looks at the large intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Gastrointestinal Bleeding +What is (are) Cholera ?,"Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also happen after disasters. The disease is not likely to spread directly from one person to another. Often the infection is mild or without symptoms, but sometimes it can be severe. Severe symptoms include profuse watery diarrhea, vomiting, and leg cramps. In severe cases, rapid loss of body fluids leads to dehydration and shock. Without treatment, death can occur within hours. Doctors diagnose cholera with a stool sample or rectal swab. Treatment includes replacing fluid and salts and sometimes antibiotics. Anyone who thinks they may have cholera should seek medical attention immediately. Dehydration can be rapid so fluid replacement is essential. Centers for Disease Control and Prevention",MPlusHealthTopics,Cholera +What is (are) Earthquakes ?,"An earthquake happens when two blocks of the earth suddenly slip past one another. Earthquakes strike suddenly, violently, and without warning at any time of the day or night. If an earthquake occurs in a populated area, it may cause property damage, injuries, and even deaths. If you live in a coastal area, there is the possibility of a tsunami. Damage from earthquakes can also lead to floods or fires. Although there are no guarantees of safety during an earthquake, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Earthquakes +What is (are) Arrhythmia ?,"An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. Symptoms of arrhythmias include - Fast or slow heart beat - Skipping beats - Lightheadedness or dizziness - Chest pain - Shortness of breath - Sweating Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Arrhythmia +What is (are) Gout ?,"Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally, uric acid dissolves in the blood. It passes through the kidneys and out of the body in urine. But sometimes uric acid can build up and form needle-like crystals. When they form in your joints, it is very painful. The crystals can also cause kidney stones. Often, gout first attacks your big toe. It can also attack ankles, heels, knees, wrists, fingers, and elbows. At first, gout attacks usually get better in days. Eventually, attacks last longer and happen more often. You are more likely to get gout if you - Are a man - Have family member with gout - Are overweight - Drink alcohol - Eat too many foods rich in purines Gout can be hard to diagnose. Your doctor may take a sample of fluid from an inflamed joint to look for crystals. You can treat gout with medicines. Pseudogout has similar symptoms and is sometimes confused with gout. However, it is caused by calcium phosphate, not uric acid. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Gout +Do you have information about Triglycerides,"Summary : Triglycerides are a type of fat found in your blood. Too much of this type of fat may raise the risk of coronary artery disease, especially in women. A blood test measures your triglycerides along with your cholesterol. Normal triglyceride levels are below 150. Levels above 200 are high. Factors that can raise your triglyceride level include - Being overweight - Lack of physical activity - Smoking - Excessive alcohol use - A very high carbohydrate diet - Certain diseases and medicines - Some genetic disorders You may be able to lower your triglycerides with a combination of losing weight, diet, and exercise. You also may need to take medicine to lower your triglycerides. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Triglycerides +What is (are) Pelvic Pain ?,"Pelvic pain occurs mostly in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of your daily activities. If you're a woman, you might feel a dull pain during your period. It could also happen during sex. Pelvic pain can be a sign that there is a problem with one of the organs in your pelvic area, such as the uterus, ovaries, fallopian tubes, cervix or vagina. It could also be a symptom of infection, or a problem with the urinary tract, lower intestines, rectum, muscle or bone. If you're a man, the cause is often a problem with the prostate. You might have to undergo a lot of medical tests to find the cause of the pain. The treatment will depend on the cause, how bad the pain is and how often it occurs. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Pelvic Pain +Do you have information about Radon,"Summary : You can't see radon. And you can't smell it or taste it. But it may be a problem in your home. Radon comes from the natural breakdown of uranium in soil, rock, and water. Radon is the second leading cause of lung cancer in the United States. There are low levels of radon outdoors. Indoors, there can be high levels. Radon can enter homes and buildings through cracks in floors, walls, or foundations. Radon can also be in your water, especially well water. Testing is the only way to know if your home has elevated radon levels. It is inexpensive and easy. You can buy a test kit at most hardware stores or hire someone to do a test. Radon reduction systems can bring the amount of radon down to a safe level. The cost depends on the size and design of your home.",MPlusHealthTopics,Radon +What is (are) Ear Disorders ?,"Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped organ. The inner ear makes the nerve impulses that are sent to the brain. Your brain recognizes them as sounds. The inner ear also controls balance. A variety of conditions may affect your hearing or balance: - Ear infections are the most common illness in infants and young children. - Tinnitus, a roaring in your ears, can be the result of loud noises, medicines or a variety of other causes. - Meniere's disease may be the result of fluid problems in your inner ear; its symptoms include tinnitus and dizziness. - Ear barotrauma is an injury to your ear because of changes in barometric (air) or water pressure. Some ear disorders can result in hearing disorders and deafness.",MPlusHealthTopics,Ear Disorders +Do you have information about Molds,"Summary : Molds are fungi that can be found both outdoors and indoors. They grow best in warm, damp and humid conditions. If you have damp or wet spots in your house, you will probably get mold. Molds can cause health problems. Inhaling or touching mold or mold spores may cause allergic reactions or asthma attacks in sensitive people. Molds can cause fungal infections. In addition, mold exposure may irritate your eyes, skin, nose, throat, and lungs. Centers for Disease Control and Prevention",MPlusHealthTopics,Molds +What is (are) Foodborne Illness ?,"Each year, 48 million people in the U.S. get sick from contaminated food. Common culprits include bacteria, parasites and viruses. Symptoms range from mild to serious. They include - Upset stomach - Abdominal cramps - Nausea and vomiting - Diarrhea - Fever - Dehydration Harmful bacteria are the most common cause of foodborne illness. Foods may have some bacteria on them when you buy them. Raw meat may become contaminated during slaughter. Fruits and vegetables may become contaminated when they are growing or when they are processed. But it can also happen in your kitchen if you leave food out for more than 2 hours at room temperature. Handling food safely can help prevent foodborne illnesses. The treatment in most cases is increasing your fluid intake. For more serious illness, you may need treatment at a hospital. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Foodborne Illness +Do you have information about First Aid,"Summary : Accidents happen. Someone chokes on an ice cube or gets stung by a bee. It is important to know when to call 9-1-1 -- it is for life-threatening emergencies. While waiting for help to arrive, you may be able to save someone's life. Cardiopulmonary resuscitation (CPR) is for people whose hearts or breathing has stopped and the Heimlich maneuver is for people who are choking. You can also learn to handle common injuries and wounds. Cuts and scrapes, for example, should be rinsed with cool water. To stop bleeding, apply firm but gentle pressure, using gauze. If blood soaks through, add more gauze, keeping the first layer in place. Continue to apply pressure. It is important to have a first aid kit available. Keep one at home and one in your car. It should include a first-aid guide. Read the guide to learn how to use the items, so you are ready in case an emergency happens.",MPlusHealthTopics,First Aid +Do you have information about Vitamins,"Summary : Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are - Vitamin A - B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate) - Vitamin C - Vitamin D - Vitamin E - Vitamin K You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. Each vitamin has specific jobs. If you have low levels of certain vitamins, you may get health problems. For example, if you don't get enough vitamin C, you could become anemic. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take vitamin supplements. It's a good idea to ask your health care provider first. High doses of some vitamins can cause problems.",MPlusHealthTopics,Vitamins +What is (are) Brain Diseases ?,"The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms.",MPlusHealthTopics,Brain Diseases +What is (are) Tracheal Disorders ?,"Your trachea, or windpipe, is one part of your airway system. Airways are pipes that carry oxygen-rich air to your lungs. They also carry carbon dioxide, a waste gas, out of your lungs. When you inhale, air travels from your nose, through your larynx, and down your windpipe. The windpipe splits into two bronchi that enter your lungs. Problems with the trachea include narrowing, inflammation, and some inherited conditions. You may need a procedure called a tracheostomy to help you breathe if you have swallowing problems, or have conditions that affect coughing or block your airways. You might also need a tracheostomy if you are in critical care and need to be on a breathing machine. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Tracheal Disorders +What is (are) Choosing a Doctor or Health Care Service ?,"We all want high-quality health care, but it's hard to know how to choose. There are many things to consider, including - What your insurance covers - Whether a health care provider or service is accredited - The location of a service - Hours that the service is available - Whether you like a health care provider's personality On this page you'll find information to help you choose a health care provider or service.",MPlusHealthTopics,Choosing a Doctor or Health Care Service +Do you have information about Sexual Health,"Summary : Sexuality is a big part of being human. Love, affection and sexual intimacy all play a role in healthy relationships. They also contribute to your sense of well-being. A number of disorders can affect the ability to have or enjoy sex in both men and women. Factors that can affect sexual health include - Fear of unplanned pregnancy - Concerns about infertility - Sexually transmitted diseases - Chronic diseases such as cancer or heart disease - Medicines that affect sexual desire or performance",MPlusHealthTopics,Sexual Health +What is (are) Diabetic Foot ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection. You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial: - Check your feet every day - Wash your feet every day - Keep the skin soft and smooth - Smooth corns and calluses gently - If you can see, reach, and feel your feet, trim your toenails regularly. If you cannot, ask a foot doctor (podiatrist) to trim them for you. - Wear shoes and socks at all times - Protect your feet from hot and cold - Keep the blood flowing to your feet NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetic Foot +Do you have information about Hurricanes,"Summary : A hurricane is a severe type of tropical storm. Hurricanes produce high winds, heavy rains and thunderstorms. Hurricanes can cause tremendous damage. Winds can exceed 155 miles per hour. Hurricanes and tropical storms can also spawn tornadoes and lead to flooding. The high winds and heavy rains can destroy buildings, roads and bridges, and knock down power lines and trees. In coastal areas, very high tides called storm surges cause extensive damage. Although there are no guarantees of safety during a hurricane, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Hurricanes +What is (are) Head and Neck Cancer ?,"Head and neck cancer includes cancers of the mouth, nose, sinuses, salivary glands, throat, and lymph nodes in the neck. Most begin in the moist tissues that line the mouth, nose and throat. Symptoms include - A lump or sore that does not heal - A sore throat that does not go away - Trouble swallowing - A change or hoarseness in the voice Using tobacco or alcohol increases your risk. In fact, 85 percent of head and neck cancers are linked to tobacco use, including smoking and smokeless tobacco. If found early, these cancers are often curable. Treatments may include surgery, radiation therapy, chemotherapy or a combination. Treatments can affect eating, speaking or even breathing, so patients may need rehabilitation. NIH: National Cancer Institute",MPlusHealthTopics,Head and Neck Cancer +Do you have information about Women's Health,"Summary : Women have unique health issues. And some of the health issues that affect both men and women can affect women differently. Unique issues include pregnancy, menopause, and conditions of the female organs. Women can have a healthy pregnancy by getting early and regular prenatal care. They should also get recommended breast cancer, cervical cancer, and bone density screenings. Women and men also have many of the same health problems. But these problems can affect women differently. For example, - Women are more likely to die following a heart attack than men - Women are more likely to show signs of depression and anxiety than men - The effects of sexually transmitted diseases can be more serious in women - Osteoarthritis affects more women than men - Women are more likely to have urinary tract problems NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Women's Health +What is (are) HIV/AIDS and Pregnancy ?,"If you have HIV/AIDS and find out you are pregnant or think you may be pregnant, you should let your health care provider know as soon as possible. Some HIV/AIDS medicines may harm your baby. Your health care provider may want you to take different medicines or change the doses. It is also possible to give HIV to your baby. This is most likely to happen around the time you give birth. For this reason, treatment during this time is very important for protecting your baby from infection. Several treatments may prevent the virus from spreading from you to your baby. Your health care provider can recommend the best one for you. Your baby will also need to have treatment for at least the first six weeks of life. Regular testing will be needed to find out if your baby is infected.",MPlusHealthTopics,HIV/AIDS and Pregnancy +Do you have information about Postpartum Care,"Summary : Taking home a new baby is one of the happiest times in a woman's life. But it also presents both physical and emotional challenges. - Get as much rest as possible. You may find that all you can do is eat, sleep, and care for your baby. And that is perfectly okay. You will have spotting or bleeding, like a menstrual period, off and on for up to six weeks. - You might also have swelling in your legs and feet, feel constipated, have menstrual-like cramping. Even if you are not breastfeeding, you can have milk leaking from your nipples, and your breasts might feel full, tender, or uncomfortable. - Follow your doctor's instructions on how much activity, like climbing stairs or walking, you can do for the next few weeks. - Doctors usually recommend that you abstain from sexual intercourse for four to six weeks after birth. In addition to physical changes, you may feel sad or have the ""baby blues."" If you are extremely sad or are unable to care for yourself or your baby, you might have a serious condition called postpartum depression. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Postpartum Care +What is (are) Ectopic Pregnancy ?,"The uterus, or womb, is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in the wrong place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. Signs of ectopic pregnancy include - Abdominal pain - Shoulder pain - Vaginal bleeding - Feeling dizzy or faint Get medical care right away if you have these signs. Doctors use drugs or surgery to remove the ectopic tissue so it doesn't damage your organs. Many women who have had ectopic pregnancies go on to have healthy pregnancies later. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Ectopic Pregnancy +What is (are) Addison Disease ?,"Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include - Weight loss - Muscle weakness - Fatigue that gets worse over time - Low blood pressure - Patchy or dark skin Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Addison Disease +What is (are) West Nile Virus ?,"West Nile virus (WNV) is an infectious disease that first appeared in the United States in 1999. Infected mosquitoes spread the virus that causes it. People who get WNV usually have no symptoms or mild symptoms. The symptoms include a fever, headache, body aches, skin rash, and swollen lymph glands. They can last a few days to several weeks, and usually go away on their own. If West Nile virus enters the brain, however, it can be life-threatening. It may cause inflammation of the brain, called encephalitis, or inflammation of the tissue that surrounds the brain and spinal cord, called meningitis. A physical exam, health history and laboratory tests can diagnose it. Older people and those with weakened immune systems are most at risk. There are no specific vaccines or treatments for human WNV disease. The best way to avoid WNV is to prevent mosquito bites: - Use insect repellent - Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets or barrels - Stay indoors between dusk and dawn, when mosquitoes are most active - Use screens on windows to keep mosquitoes out NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,West Nile Virus +What is (are) Cardiac Arrest ?,"The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. Sudden cardiac arrest (SCA) occurs when the heart develops an arrhythmia that causes it to stop beating. This is different than a heart attack, where the heart usually continues to beat but blood flow to the heart is blocked. There are many possible causes of SCA. They include coronary heart disease, physical stress, and some inherited disorders. Sometimes there is no known cause for the SCA. Without medical attention, the person will die within a few minutes. People are less likely to die if they have early defibrillation. Defibrillation sends an electric shock to restore the heart rhythm to normal. You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. If you have had an SCA, an implantable cardiac defibrillator (ICD) reduces the chance of dying from a second SCA. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Cardiac Arrest +Do you have information about Cancer--Living with Cancer,"Summary : Cancer is common. Half of all men and a third of women will get a diagnosis of cancer in their lifetime. Many people with cancer do survive. Millions of Americans alive today have a history of cancer. For most people with cancer, living with the disease is the biggest challenge they have ever faced. It can change your routines, roles and relationships. It can cause money and work problems. The treatment can change the way you feel and look. Learning more about ways you can help yourself may ease some of your concerns. Support from others is important. All cancer survivors should have follow-up care. Knowing what to expect after cancer treatment can help you and your family make plans, lifestyle changes, and important decisions. NIH: National Cancer Institute",MPlusHealthTopics,Cancer--Living with Cancer +What is (are) Sore Throat ?,"Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx (also called the voice box). The technical name for the throat is pharynx. You can have a sore throat for many reasons. Often, colds and flu cause sore throats. Other causes can include: - Allergies - Mononucleosis - Smoking - Strep throat - Tonsillitis - an infection in the tonsils Treatment depends on the cause. Sucking on lozenges, drinking lots of liquids, and gargling may ease the pain. Over-the-counter pain relievers can also help, but children should not take aspirin.",MPlusHealthTopics,Sore Throat +Do you have information about Child Care,"Summary : Children's healthy development depends on safe and positive experiences when they are very young. If you work or go to school, you want to know that your child is in good hands while you are away. You may choose in-home care, where the caregiver comes to your home. Or your child might go to the caregiver's home. Finally, there are child care centers. You need to choose the one that works for your family. It is important to get to know your child's caregivers. They will be a big part of your child's life. The caregiver's training should involve - Knowledge of how young children learn and grow - Positive, consistent discipline - Knowledge of the signs that a child is sick - Cleanliness and safety practices to help keep kids from getting sick or hurt - Basic first aid",MPlusHealthTopics,Child Care +What is (are) Finger Injuries and Disorders ?,"You use your fingers and thumbs to do everything from grasping objects to playing musical instruments to typing. When there is something wrong with them, it can make life difficult. Common problems include - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis. It can also cause deformity. - Tendinitis - irritation of the tendons - Dupuytren's contracture - a hereditary thickening of the tough tissue that lies just below the skin of your palm. It causes the fingers to stiffen and bend. - Trigger finger - an irritation of the sheath that surrounds the flexor tendons. It can cause the tendon to catch and release like a trigger.",MPlusHealthTopics,Finger Injuries and Disorders +What is (are) Panic Disorder ?,"Panic disorder is a type of anxiety disorder. It causes panic attacks, which are sudden feelings of terror when there is no real danger. You may feel as if you are losing control. You may also have physical symptoms, such as - Fast heartbeat - Chest or stomach pain - Breathing difficulty - Weakness or dizziness - Sweating - Feeling hot or a cold chill - Tingly or numb hands Panic attacks can happen anytime, anywhere, and without warning. You may live in fear of another attack and may avoid places where you have had an attack. For some people, fear takes over their lives and they cannot leave their homes. Panic disorder is more common in women than men. It usually starts when people are young adults. Sometimes it starts when a person is under a lot of stress. Most people get better with treatment. Therapy can show you how to recognize and change your thinking patterns before they lead to panic. Medicines can also help. NIH: National Institute of Mental Health",MPlusHealthTopics,Panic Disorder +What is (are) Jaw Injuries and Disorders ?,"Your jaw is a set of bones that holds your teeth. It consists of two main parts. The upper part is the maxilla. It doesn't move. The moveable lower part is called the mandible. You move it when you talk or chew. The two halves of the mandible meet at your chin. The joint where the mandible meets your skull is the temporomandibular joint. Jaw problems include - Fractures - Dislocations - Temporomandibular joint dysfunction - Osteonecrosis, which happens when your bones lose their blood supply - Cancers Treatment of jaw problems depends on the cause.",MPlusHealthTopics,Jaw Injuries and Disorders +Do you have information about Arsenic,"Summary : Arsenic is a natural element found in soil and minerals. Arsenic compounds are used to preserve wood, as pesticides, and in some industries. Arsenic can get into air, water, and the ground from wind-blown dust. It may also get into water from runoff. You may be exposed to arsenic by - Taking in small amounts in food, drinking water, or air - Breathing sawdust or burning smoke from arsenic-treated wood - Living in an area with high levels of arsenic in rock - Working in a job where arsenic is made or used Exposure to arsenic can cause many health problems. Being exposed to low levels for a long time can change the color of your skin. It can cause corns and small warts. Exposure to high levels of arsenic can cause death. Agency for Toxic Substances Disease Registry",MPlusHealthTopics,Arsenic +What is (are) Collapsed Lung ?,"A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include - Lung diseases such as pneumonia or lung cancer - Being on a breathing machine - Surgery on the chest or abdomen - A blocked airway If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Collapsed Lung +Do you have information about Medical Ethics,"Summary : The field of ethics studies principles of right and wrong. There is hardly an area in medicine that doesn't have an ethical aspect. For example, there are ethical issues relating to - End of life care: Should a patient receive nutrition? What about advance directives and resuscitation orders? - Abortion: When does life begin? Is it ethical to terminate a pregnancy with a birth defect? - Genetic and prenatal testing: What happens if you are a carrier of a defect? What if testing shows that your unborn baby has a defect? - Birth control: Should it be available to minors? - Is it ethical to harvest embryonic stem cells to treat diseases? - Organ donation: Must a relative donate an organ to a sick relative? - Your personal health information: who has access to your records? - Patient rights: Do you have the right to refuse treatment? - When you talk with your doctor, is it ethical for her to withhold information from you or your family?",MPlusHealthTopics,Medical Ethics +What is (are) Pneumococcal Infections ?,"Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are - Ear infections - Sinus infections - Pneumonia - Sepsis - Meningitis How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities. Centers for Disease Control and Prevention",MPlusHealthTopics,Pneumococcal Infections +Do you have information about Drugs and Young People,"Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. As a result, the brains of young people may be more susceptible to drug abuse and addiction than adult brains. Abused drugs include - Amphetamines - Anabolic steroids - Club drugs - Cocaine - Heroin - Inhalants - Marijuana - Prescription drugs There are different types of treatment for drug abuse. But it is better to prevent drug abuse in the first place. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Drugs and Young People +What is (are) Respiratory Syncytial Virus Infections ?,"Respiratory syncytial virus (RSV) causes mild, cold-like symptoms in adults and older healthy children. It can cause serious problems in young babies, including pneumonia and severe breathing problems. Premature babies and those with other health problems have the highest risk. A child with RSV may have a fever, stuffy nose, cough, and trouble breathing. Lab tests can tell if your child has the virus. There is no specific treatment. You should give your child fluids to prevent dehydration. If needed, you can also give a pain reliever (not aspirin) for fever and headache. RSV easily spreads from person to person. You can get it from direct contact with someone who has it or by touching infected objects such as toys or surfaces such as countertops. Washing your hands often and not sharing eating and drinking utensils are simple ways to help prevent the spread of RSV infection. There is currently no vaccine for RSV. Centers for Disease Control and Prevention",MPlusHealthTopics,Respiratory Syncytial Virus Infections +Do you have information about Coping with Disasters,"Summary : No matter how well you have prepared, you might feel dazed or numb after going through a disaster. You may also feel sad, helpless, or anxious. In spite of the tragedy, you might just feel happy to be alive. It is not unusual to have bad memories or dreams. You may avoid places or people that remind you of the disaster. You might have trouble sleeping, eating, or paying attention. Many people have short tempers and get angry easily. These are all normal reactions to stress. Sometimes the stress can be too much to handle alone. Some people have long-term problems after a disaster, including - Post-traumatic stress disorder - Depression - Self-blame - Suicidal thoughts - Alcohol or drug abuse If your emotional reactions are getting in the way of your relationships, work, or other important activities, talk to a counselor or your doctor. Treatments are available. Centers for Disease Control and Prevention",MPlusHealthTopics,Coping with Disasters +What is (are) Low Blood Pressure ?,"You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems. Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. Your blood pressure reading uses these two numbers. Usually they're written one above or before the other, such as 120/80. If your blood pressure reading is 90/60 or lower, you have low blood pressure. Some people have low blood pressure all the time. They have no symptoms and their low readings are normal for them. In other people, blood pressure drops below normal because of a medical condition or certain medicines. Some people may have symptoms of low blood pressure when standing up too quickly. Low blood pressure is a problem only if it causes dizziness, fainting or in extreme cases, shock. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Low Blood Pressure +What is (are) Shingles ?,"Shingles is a disease caused by the varicella-zoster virus - the same virus that causes chickenpox. After you have chickenpox, the virus stays in your body. It may not cause problems for many years. As you get older, the virus may reappear as shingles. Although it is most common in people over age 50, anyone who has had chickenpox is at risk. You can't catch shingles from someone who has it. However, if you have a shingles rash, you can pass the virus to someone who has never had chickenpox. This would usually be a child, who could get chickenpox instead of shingles. The virus spreads through direct contact with the rash, and cannot spread through the air. Early signs of shingles include burning or shooting pain and tingling or itching, usually on one side of the body or face. The pain can be mild to severe. Rashes or blisters appear anywhere from one to 14 days later. If shingles appears on your face, it may affect your vision or hearing. The pain of shingles may last for weeks, months, or even years after the blisters have healed. There is no cure for shingles. Early treatment with medicines that fight the virus may help. These medicines may also help prevent lingering pain. A vaccine may prevent shingles or lessen its effects. The vaccine is recommended for people 60 or over. In some cases doctors may give it to people ages 50 to 59. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Shingles +What is (are) Muscle Cramps ?,"Muscle cramps are sudden, involuntary contractions or spasms in one or more of your muscles. They often occur after exercise or at night, lasting a few seconds to several minutes. It is a very common muscle problem. Muscle cramps can be caused by nerves that malfunction. Sometimes this malfunction is due to a health problem, such as a spinal cord injury or a pinched nerve in the neck or back. Other causes are - Straining or overusing a muscle - Dehydration - A lack of minerals in your diet or the depletion of minerals in your body - Not enough blood getting to your muscles Cramps can be very painful. Stretching or gently massaging the muscle can relieve this pain.",MPlusHealthTopics,Muscle Cramps +What is (are) Lung Diseases ?,"When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Lung Diseases +What is (are) Trichomoniasis ?,"Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray discharge from the vagina - Discomfort during sex - Vaginal odor - Painful urination - Itching in or near the vagina Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation. Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Trichomoniasis +What is (are) Vulvar Disorders ?,"The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. Treatment depends on the cause.",MPlusHealthTopics,Vulvar Disorders +Do you have information about Cancer Alternative Therapies,"Summary : You have many choices to make about your cancer treatment. One choice you might be thinking about is complementary and alternative medicine (CAM). CAM is the term for medical products and practices that are not part of standard care. Examples of CAM therapies are acupuncture, chiropractic, and herbal medicines. People with cancer may use CAM to - Help cope with the side effects of cancer treatments - Ease worries of cancer treatment and related stress - Feel that they are doing something more to help their own care CAM treatments do not work for everyone. Some methods, such as acupuncture, might help with nausea, pain and other side effects of cancer treatment. Talk to your doctor to make sure that all aspects of your cancer care work together. NIH: National Cancer Institute",MPlusHealthTopics,Cancer Alternative Therapies +Do you have information about Toddler Nutrition,"Summary : Food provides the energy and nutrients that young children need to be healthy. Toddlers are learning to feed themselves and to eat new foods. They should eat a variety of foods from all of the food groups. Each day, toddlers need enough nutrients, including - 7 milligrams of iron - 700 milligrams of calcium - 600 IU of vitamin D",MPlusHealthTopics,Toddler Nutrition +Do you have information about Exercise for Children,"Summary : Like adults, kids need exercise. Most children need at least an hour of physical activity every day. Regular exercise helps children - Feel less stressed - Feel better about themselves - Feel more ready to learn in school - Keep a healthy weight - Build and keep healthy bones, muscles and joints - Sleep better at night As kids spend more time watching TV, they spend less time running and playing. Parents should limit TV, video game and computer time. Parents can set a good example by being active themselves. Exercising together can be fun for everyone. Competitive sports can help kids stay fit. Walking or biking to school, dancing, bowling and yoga are some other ways for kids to get exercise.",MPlusHealthTopics,Exercise for Children +What is (are) Memory ?,"Your mind works a lot like a computer. Your brain puts information it judges to be important into ""files."" When you remember something, you pull up a file. Memory doesn't always work perfectly. As people grow older, it may take longer to retrieve those files. Some adults joke about having a ""senior moment."" It's normal to forget things once in awhile. We've all forgotten a name, where we put our keys, or if we locked the front door. Seniors who forget things more often than others their age may have mild cognitive impairment. Forgetting how to use the telephone or find your way home may be signs of a more serious problem. These include Alzheimer's disease or other types of dementia, stroke, depression, head injuries, thyroid problems, or reactions to certain medicines. If you're worried about your forgetfulness, see your doctor. NIH: National Institute on Aging",MPlusHealthTopics,Memory +What is (are) Bladder Diseases ?,"The bladder is a hollow organ in your lower abdomen that stores urine. Many conditions can affect your bladder. Some common ones are - Cystitis - inflammation of the bladder, often from an infection - Urinary incontinence - loss of bladder control - Overactive bladder - a condition in which the bladder squeezes urine out at the wrong time - Interstitial cystitis - a chronic problem that causes bladder pain and frequent, urgent urination - Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x-rays, and an examination of the bladder wall with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Bladder Diseases +What is (are) Glaucoma ?,"Glaucoma is a group of diseases that can damage the eye's optic nerve. It is a leading cause of blindness in the United States. It usually happens when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Often there are no symptoms at first. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. A comprehensive eye exam can tell if you have glaucoma. People at risk should get eye exams at least every two years. They include - African Americans over age 40 - People over age 60, especially Mexican Americans - People with a family history of glaucoma There is no cure, but glaucoma can usually be controlled. Early treatment can help protect your eyes against vision loss. Treatments usually include prescription eyedrops and/or surgery. NIH: National Eye Institute",MPlusHealthTopics,Glaucoma +What is (are) Valley Fever ?,"Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person. Anyone can get Valley Fever. But it's most common among older adults, especially those 60 and older. People who have recently moved to an area where it occurs are at highest risk for infection. Other people at higher risk include - Workers in jobs that expose them to soil dust. These include construction workers, agricultural workers, and military forces doing field training. - African Americans and Asians - Women in their third trimester of pregnancy - People with weak immune systems Valley Fever is often mild, with no symptoms. If you have symptoms, they may include a flu-like illness, with fever, cough, headache, rash, and muscle aches. Most people get better within several weeks or months. A small number of people may develop a chronic lung or widespread infection. Valley Fever is diagnosed by testing your blood, other body fluids, or tissues. Many people with the acute infection get better without treatment. In some cases, doctors may prescribe antifungal drugs for acute infections. Severe infections require antifungal drugs. Centers for Disease Control and Prevention",MPlusHealthTopics,Valley Fever +What is (are) Malabsorption Syndromes ?,"Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include - Celiac disease - Lactose intolerance - Short bowel syndrome. This happens after surgery to remove half or more of the small intestine. You might need the surgery if you have a problem with the small intestine from a disease, injury, or birth defect. - Whipple disease, a rare bacterial infection - Genetic diseases - Certain medicines Symptoms of different malabsorption syndromes can vary. They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.",MPlusHealthTopics,Malabsorption Syndromes +Do you have information about Health Statistics,"Summary : You see them all the time in the news - the number of people who were in the hospital last year, the percentage of kids who are overweight, the rate at which people are catching the flu, the average cost of a medical procedure. These are all types of health statistics. Health statistics are numbers about some aspect of health. Statistics about births, deaths, marriages, and divorces are sometimes called ""vital statistics."" Researchers use statistics to see patterns of diseases in groups of people. This can help in figuring out who is at risk for certain diseases, finding ways to control diseases and deciding which diseases should be studied.",MPlusHealthTopics,Health Statistics +What is (are) Acute Lymphocytic Leukemia ?,"Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute lymphocytic leukemia (ALL), also called acute lymphoblastic leukemia, there are too many of specific types of white blood cells called lymphocytes or lymphoblasts. ALL is the most common type of cancer in children. Possible risk factors for ALL include being male, being white, previous chemotherapy treatment, exposure to radiation, and for adults, being older than 70. Symptoms of ALL include: - Weakness or feeling tired - Fever - Easy bruising or bleeding - Bleeding under the skin - Shortness of breath - Weight loss or loss of appetite - Pain in the bones or stomach - Pain or a feeling of fullness below the ribs - Painless lumps in the neck, underarm, stomach, or groin Tests that examine the blood and bone marrow diagnose ALL. Treatments include chemotherapy, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back. NIH: National Cancer Institute",MPlusHealthTopics,Acute Lymphocytic Leukemia +What is (are) Multiple Sclerosis ?,"Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include - Visual disturbances - Muscle weakness - Trouble with coordination and balance - Sensations such as numbness, prickling, or ""pins and needles"" - Thinking and memory problems No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Multiple Sclerosis +What is (are) Psoriasis ?,"Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthritis. A problem with your immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in your skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because your cells rise too fast. Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor might need to look at a small skin sample under a microscope. Psoriasis can last a long time, even a lifetime. Symptoms come and go. Things that make them worse include - Infections - Stress - Dry skin - Certain medicines Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medicines, and light therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Psoriasis +What is (are) Intestinal Obstruction ?,"An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines. Symptoms include - Severe abdominal pain or cramping - Vomiting - Bloating - Loud bowel sounds - Swelling of the abdomen - Inability to pass gas - Constipation A complete intestinal obstruction is a medical emergency. It often requires surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Intestinal Obstruction +What is (are) Cellulitis ?,"Cellulitis is an infection of the skin and deep underlying tissues. Group A strep (streptococcal) bacteria are the most common cause. The bacteria enter your body when you get an injury such as a bruise, burn, surgical cut, or wound. Symptoms include - Fever and chills - Swollen glands or lymph nodes - A rash with painful, red, tender skin. The skin may blister and scab over. Your health care provider may take a sample or culture from your skin or do a blood test to identify the bacteria causing infection. Treatment is with antibiotics. They may be oral in mild cases, or intravenous (through the vein) for more severe cases. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Cellulitis +What is (are) Overactive Bladder ?,"Overactive bladder is a condition in which the bladder squeezes urine out at the wrong time. You may have overactive bladder if you have two or more of these symptoms: - You urinate eight or more times a day or two or more times at night - You have the sudden, strong need to urinate immediately - You leak urine after a sudden, strong urge to urinate You also may have incontinence, a loss of bladder control. Nerve problems, too much fluid, or too much caffeine can cause it. Often the cause is unknown. Your doctor may prescribe a medicine that can calm muscles and nerves. The medicine may come as a pill, a liquid, or a patch. The medicines can cause your eyes to become dry. They can also cause dry mouth and constipation. To deal with these effects, use eye drops to keep your eyes moist, chew sugarless gum or suck on sugarless hard candy if dry mouth bothers you, and take small sips of water throughout the day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Overactive Bladder +What is (are) Celiac Disease ?,"Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Celiac Disease +Do you have information about Preconception Care,"Summary : If you are trying to have a baby or are just thinking about it, it is not too early to prepare for a safe pregnancy and a healthy baby. You should speak with your healthcare provider about preconception care. Preconception care is care you receive before you get pregnant. It involves finding and taking care of any problems that might affect you and your baby later, like diabetes or high blood pressure. It also involves steps you can take to reduce the risk of birth defects and other problems. For example, you should take folic acid supplements to prevent neural tube defects. By taking action on health issues before pregnancy, you can prevent many future problems for yourself and your baby. Once you're pregnant, you'll get prenatal care until your baby is born. National Center for Birth Defects and Developmental Disabilities",MPlusHealthTopics,Preconception Care +What is (are) Color Blindness ?,"Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities.",MPlusHealthTopics,Color Blindness +What is (are) Knee Injuries and Disorders ?,"Your knee joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the knee joint move. When any of these structures is hurt or diseased, you have knee problems. Knee problems can cause pain and difficulty walking. Knee problems are very common, and they occur in people of all ages. Knee problems can interfere with many things, from participation in sports to simply getting up from a chair and walking. This can have a big impact on your life. The most common disease affecting the knee is osteoarthritis. The cartilage in the knee gradually wears away, causing pain and swelling. Injuries to ligaments and tendons also cause knee problems. A common injury is to the anterior cruciate ligament (ACL). You usually injure your ACL by a sudden twisting motion. ACL and other knee injuries are common sports injuries. Treatment of knee problems depends on the cause. In some cases your doctor may recommend knee replacement. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Knee Injuries and Disorders +Do you have information about Food Safety,"Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. Germs can spread from one food to another. - Cook - foods need to get hot and stay hot. Heat kills germs. - Chill - put fresh food in the refrigerator right away. In the grocery store, avoid cans that are bulging or jars that have cracks or loose lids. Check packages to be sure food hasn't reached its expiration date. United States Department of Agriculture",MPlusHealthTopics,Food Safety +What is (are) Back Pain ?,"If you've ever groaned, ""Oh, my aching back!"", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. Back pain is called chronic if it lasts for more than three months. Most back pain goes away on its own, though it may take awhile. Taking over-the-counter pain relievers and resting can help. However, staying in bed for more than 1 or 2 days can make it worse. If your back pain is severe or doesn't improve after three days, you should call your health care provider. You should also get medical attention if you have back pain following an injury. Treatment for back pain depends on what kind of pain you have, and what is causing it. It may include hot or cold packs, exercise, medicines, injections, complementary treatments, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Back Pain +What is (are) Throat Cancer ?,"Throat cancer is a type of head and neck cancer. Throat cancer has different names, depending on what part of the throat is affected. The different parts of the throat are called the oropharynx, the hypopharynx, and the nasopharynx. Sometimes the larynx, or voice box, is also included. The main risk factors for throat cancer are smoking or using smokeless tobacco and use of alcohol. Symptoms of throat cancer may include - Trouble breathing or speaking - Frequent headaches - Pain or ringing in the ears - Trouble swallowing - Ear pain Treatments include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Throat Cancer +What is (are) Chronic Kidney Disease ?,"You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of your blood to make urine. They also keep the body's chemical balance, help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged and can't filter blood as they should. This damage can cause wastes to build up in your body. It can also cause other problems that can harm your health. Diabetes and high blood pressure are the most common causes of CKD. Treatment may include medicines to lower blood pressure, control blood glucose, and lower blood cholesterol. CKD can get worse over time. CKD may lead to kidney failure. The only treatment options for kidney failure are dialysis or a kidney transplantation. You can take steps to keep your kidneys healthier longer: - Choose foods with less salt (sodium) - Keep your blood pressure below 130/80 - Keep your blood glucose in the target range, if you have diabetes NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Chronic Kidney Disease +Do you have information about Vital Signs,"Summary : Your vital signs show how well your body is functioning. They are usually measured at doctor's offices, often as part of a health checkup, or during an emergency room visit. They include - Blood pressure, which measures the force of your blood pushing against the walls of your arteries. Blood pressure that is too high or too low can cause problems. Your blood pressure has two numbers. The first number is the pressure when your heart beats and is pumping the blood. The second is from when your heart is at rest, between beats. A normal blood pressure reading for adults is lower than 120/80 and higher than 90/60. - Heart rate, or pulse, which measures how fast your heart is beating. A problem with your heart rate may be an arrhythmia. Your normal heart rate depends on factors such as your age, how much you exercise, whether you are sitting or standing, which medicines you take, and your weight. - Respiratory rate, which measures your breathing. Mild breathing changes can be from causes such as a stuffy nose or hard exercise. But slow or fast breathing can also be a sign of a serious breathing problem. - Temperature, which measures how hot your body is. A body temperature that is higher than normal (over 98.6 degrees F) is called a fever.",MPlusHealthTopics,Vital Signs +What is (are) Diabetes Complications ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body functions, such as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk for heart disease and bone and joint disorders. Other long-term complications of diabetes include skin problems, digestive problems, sexual dysfunction, and problems with your teeth and gums. Very high or very low blood sugar levels can also lead to emergencies in people with diabetes. The cause can be an underlying infection, certain medicines, or even the medicines you take to control your diabetes. If you feel nauseated, sluggish or shaky, seek emergency care. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes Complications +Do you have information about Occupational Health,"Summary : Occupational health problems occur at work or because of the kind of work you do. These problems can include - Cuts, broken bones, sprains, and strains - Loss of limbs - Repetitive motion disorders - Hearing problems caused by exposure to noise - Vision problems - Illness caused by breathing, touching, or swallowing unsafe substances - Illness caused by exposure to radiation - Exposure to germs in health care settings Good job safety and prevention practices can reduce your risk of these problems. Try to stay fit, reduce stress, set up your work area properly, and use the right equipment and gear.",MPlusHealthTopics,Occupational Health +Do you have information about Personal Health Records,"Summary : You've probably seen your chart at your doctor's office. In fact, you may have charts at several doctors' offices. If you've been in the hospital, you have a chart there, too. These charts are your medical records. They may be on paper or electronic. To keep track of all this information, it's a good idea to keep your own personal health record. What kind of information would you put in a personal health record? You could start with - Your name, birth date, blood type, and emergency contact information - Date of last physical - Dates and results of tests and screenings - Major illnesses and surgeries, with dates - A list of your medicines and supplements, the dosages, and how long you've taken them - Any allergies - Any chronic diseases - Any history of illnesses in your family",MPlusHealthTopics,Personal Health Records +Do you have information about Lung Transplantation,"Summary : A lung transplant removes a person's diseased lung and replaces it with a healthy one. The healthy lung comes from a donor who has died. Some people get one lung during a transplant. Other people get two. Lung transplants are used for people who are likely to die from lung disease within 1 to 2 years. Their conditions are so severe that other treatments, such as medicines or breathing devices, no longer work. Lung transplants most often are used to treat people who have severe - COPD - Cystic fibrosis - Idiopathic pulmonary fibrosis - Alpha-1 antitrypsin deficiency - Pulmonary hypertension Complications of lung transplantation include rejection of the transplanted lung and infection. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Lung Transplantation +What is (are) Muscle Disorders ?,"Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. Causes of muscle disorders include - Injury or overuse, such as sprains or strains, cramps or tendinitis - A genetic disorder, such as muscular dystrophy - Some cancers - Inflammation, such as myositis - Diseases of nerves that affect muscles - Infections - Certain medicines Sometimes the cause is not known.",MPlusHealthTopics,Muscle Disorders +What is (are) Diabetes and Pregnancy ?,"Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about - A meal plan for your pregnancy - A safe exercise plan - How often to test your blood sugar - Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes and Pregnancy +What is (are) Spinal Muscular Atrophy ?,"Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control. SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family. There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Spinal Muscular Atrophy +What is (are) Eyelid Disorders ?,"Your eyelids help protect your eyes. When you blink, your eyelids spread moisture over your eyes. Blinking also helps move dirt or other particles off the surface of the eye. You close your eyelids when you see something coming towards your eyes. This can help protect against injuries. Like most other parts of your body, your eyelids can get infected, inflamed, or even develop cancer. There are also specific eyelid problems, including - Eyelids that turn in or out - Eyelids that droop - Abnormal blinking or twitching Treatment of eyelid problems depends on the cause.",MPlusHealthTopics,Eyelid Disorders +What is (are) Birth Control ?,"Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways: - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges. - Keeping the woman's ovaries from releasing eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive pills. - IUDs, devices which are implanted into the uterus. They can be kept in place for several years. - Sterilization, which permanently prevents a woman from getting pregnant or a man from being able to get a woman pregnant Your choice of birth control should depend on several factors. These include your health, frequency of sexual activity, number of sexual partners and desire to have children in the future. Your health care provider can help you select the best form of birth control for you. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Birth Control +What is (are) Genital Warts ?,"Genital warts are a sexually transmitted disease (STD) caused by the human papillomavirus (HPV). The warts are soft, moist, pink, or flesh-colored bumps. You can have one or many of these bumps. In women, the warts usually occur in or around the vagina, on the cervix or around the anus. In men, genital warts are less common but might occur on the tip of the penis. You can get genital warts during oral, vaginal, or anal sex with an infected partner. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading HPV. HPV vaccines may help prevent some of the HPV infections that cause genital warts. Your health care provider usually diagnoses genital warts by seeing them. The warts might disappear on their own. If not, your health care provider can treat or remove them. The virus stays in your body even after treatment, so warts can come back. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Genital Warts +What is (are) Dual Diagnosis ?,"A person with dual diagnosis has both a mental disorder and an alcohol or drug problem. These conditions occur together frequently. In particular, alcohol and drug problems tend to occur with - Depression - Anxiety disorders - Schizophrenia - Personality disorders Sometimes the mental problem occurs first. This can lead people to use alcohol or drugs that make them feel better temporarily. Sometimes the substance abuse occurs first. Over time, that can lead to emotional and mental problems. Someone with a dual diagnosis must treat both conditions. For the treatment to be effective, the person needs to stop using alcohol or drugs. Treatments may include behavioral therapy, medicines, and support groups. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Dual Diagnosis +What is (are) Angina ?,"Angina is chest pain or discomfort you feel when there is not enough blood flow to your heart muscle. Your heart muscle needs the oxygen that the blood carries. Angina may feel like pressure or a squeezing pain in your chest. It may feel like indigestion. You may also feel pain in your shoulders, arms, neck, jaw, or back. Angina is a symptom of coronary artery disease (CAD), the most common heart disease. CAD happens when a sticky substance called plaque builds up in the arteries that supply blood to the heart, reducing blood flow. There are three types of angina: - Stable angina is the most common type. It happens when the heart is working harder than usual. Stable angina has a regular pattern. Rest and medicines usually help. - Unstable angina is the most dangerous. It does not follow a pattern and can happen without physical exertion. It does not go away with rest or medicine. It is a sign that you could have a heart attack soon. - Variant angina is rare. It happens when you are resting. Medicines can help. Not all chest pain or discomfort is angina. If you have chest pain, you should see your health care provider. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Angina +What is (are) Vulvar Cancer ?,"Vulvar cancer is a rare type of cancer. It forms in a woman's external genitals, called the vulva. The cancer usually grows slowly over several years. First, precancerous cells grow on vulvar skin. This is called vulvar intraepithelial neoplasia (VIN), or dysplasia. Not all VIN cases turn into cancer, but it is best to treat it early. Often, vulvar cancer doesn't cause symptoms at first. However, see your doctor for testing if you notice - A lump in the vulva - Vulvar itching or tenderness - Bleeding that is not your period - Changes in the vulvar skin, such as color changes or growths that look like a wart or ulcer You are at greater risk if you've had a human papillomavirus (HPV) infection or have a history of genital warts. Your health care provider diagnoses vulvar cancer with a physica1 exam and a biopsy. Treatment varies, depending on your overall health and how advanced the cancer is. It might include surgery, radiation therapy, chemotherapy, or biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute",MPlusHealthTopics,Vulvar Cancer +What is (are) Barotrauma ?,"Barotrauma means injury to your body because of changes in barometric (air) or water pressure. One common type happens to your ear. A change in altitude may cause your ears to hurt. This can happen if you are flying in an airplane, driving in the mountains, or scuba diving. Divers can also get decompression sickness, which affects the whole body. Common symptoms of ear barotrauma include - Pain - A feeling that your ears are stuffed - Hearing loss - Dizziness Treatments for ear barotrauma include chewing gum and yawning to relieve the pressure. Medications such as decongestants may also help.",MPlusHealthTopics,Barotrauma +What is (are) Cold Sores ?,"Cold sores are caused by a contagious virus called herpes simplex virus (HSV). There are two types of HSV. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area Some people have no symptoms from the infection. But others develop painful and unsightly cold sores. Cold sores usually occur outside the mouth, on or around the lips. When they are inside the mouth, they are usually on the gums or the roof of the mouth. They are not the same as canker sores, which are not contagious. There is no cure for cold sores. They normally go away on their own in a few weeks. Antiviral medicines can help them heal faster. They can also help to prevent cold sores in people who often get them. Other medicines can help with the pain and discomfort of the sores. These include ointments that numb the blisters, soften the crusts of the sores, or dry them out. Protecting your lips from the sun with sunblock lip balm can also help.",MPlusHealthTopics,Cold Sores +Do you have information about Electromagnetic Fields,"Summary : Electric and magnetic fields (EMFs) are areas of energy that surround electrical devices. Everyday sources of EMFs include - Power lines - Electrical wiring - Microwave ovens - Computers - Cell phones Some people worry about EMF exposure and cancer. Some studies have found a link between EMF exposure and a higher risk of childhood leukemia, but other studies have not. Other studies have not found proof that EMF exposure causes other childhood cancers. Studies in adults did not prove that EMF exposure causes cancer. Some people worry that wireless and cellular phones cause cancer. They give off radio-frequency energy (RF), a form of electromagnetic radiation. Scientists need to do more research on this before they can say for sure. NIH: National Institute of Environmental Health Sciences",MPlusHealthTopics,Electromagnetic Fields +"What is (are) Gay, Lesbian, Bisexual and Transgender Health ?","Gay, lesbian, bisexual and transgender individuals have special health concerns besides the usual ones that affect most men and women. On this page you'll find information about these specific health issues.",MPlusHealthTopics,"Gay, Lesbian, Bisexual and Transgender Health" +What is (are) Lyme Disease ?,"Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom is usually a rash, which may look like a bull's eye. As the infection spreads, you may have - A fever - A headache - Muscle and joint aches - A stiff neck - Fatigue Lyme disease can be hard to diagnose because you may not have noticed a tick bite. Also, many of its symptoms are like those of the flu and other diseases. In the early stages, your health care provider will look at your symptoms and medical history, to figure out whether you have Lyme disease. Lab tests may help at this stage, but may not always give a clear answer. In the later stages of the disease, a different lab test can confirm whether you have it. Antibiotics can cure most cases of Lyme disease. The sooner treatment begins, the quicker and more complete the recovery. After treatment, some patients may still have muscle or joint aches and nervous system symptoms. This is called post-Lyme disease syndrome (PLDS). Long-term antibiotics have not been shown to help with PLDS. However, there are ways to help with the symptoms of PLDS, and most patients do get better with time. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Lyme Disease +Do you have information about Adoption,"Summary : Adoption brings a child born to other parents into a new family. Birth parents have a number of reasons for placing children for adoption. Overall, they want better lives for their children than they think they can give them. Children who are eligible for adoption come from many different settings. Some are in foster care, a temporary home setting. Other children live in orphanages or with birth relatives until they can be adopted. There are different kinds of adoption. Children may be adopted by a relative or a new family. Some parents adopt children from the U.S, and some adopt from abroad.",MPlusHealthTopics,Adoption +What is (are) Sweat ?,"Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor. Sweating a lot is normal when it is hot or when you exercise, are anxious, or have a fever. It also happens during menopause. If you often sweat too much, it's called hyperhidrosis. Causes include thyroid or nervous system disorders, low blood sugar, or another health problem. Sweating too little, anhidrosis, can be life-threatening because your body can overheat. Causes of anhidrosis include dehydration, burns, and some skin and nerve disorders.",MPlusHealthTopics,Sweat +Do you have information about Health Facilities,"Summary : Health facilities are places that provide health care. They include hospitals, clinics, outpatient care centers, and specialized care centers, such as birthing centers and psychiatric care centers. When you choose a health facility, you might want to consider - How close it is to where you live or work - Whether your health insurance will pay for services there - Whether your health care provider can treat you there - The quality of the facility Quality is important. Some facilities do a better job than others. One way to learn about the quality of a facility is to look at report cards developed by federal, state, and consumer groups.",MPlusHealthTopics,Health Facilities +What is (are) Giardia Infections ?,"Giardiasis is an illness caused by a parasite called Giardia intestinalis. It lives in soil, food, and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. You can also get it if you're exposed to human feces (poop) through sexual contact. The risk of getting giardia is higher for travelers to countries where it is common, people in child care settings, and those who drink untreated water. Diarrhea is the main symptom of giardia infection. Others include - Passing gas - Greasy stools - Stomach cramps - Upset stomach or nausea These symptoms may lead to weight loss and loss of body fluids. Some people have no symptoms at all. Symptoms of infection often last two to six weeks. Stool sample tests can diagnose it. You often need to collect several samples to test. Doctors use several drugs to treat it. The best way to prevent giardia infection is to practice good hygiene, including frequent hand washing. You should not drink water that may be contaminated. You should also peel or wash fresh fruit and vegetables before eating. Centers for Disease Control and Prevention",MPlusHealthTopics,Giardia Infections +What is (are) Brain Malformations ?,"Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed. Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy. There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It's common for new babies to have slightly uneven heads, but parents should watch the shape of their baby's head for possible problems. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Brain Malformations +What is (are) Spleen Diseases ?,"Your spleen is an organ above your stomach and under your ribs on your left side. It is about as big as your fist. The spleen is part of your lymphatic system, which fights infection and keeps your body fluids in balance. It contains white blood cells that fight germs. Your spleen also helps control the amount of blood in your body, and destroys old and damaged cells. Certain diseases might cause your spleen to swell. You can also damage or rupture your spleen in an injury, especially if it is already swollen. If your spleen is too damaged, you might need surgery to remove it. You can live without a spleen. Other organs, such as your liver, will take over some of the spleen's work. Without a spleen, however, your body will lose some of its ability to fight infections.",MPlusHealthTopics,Spleen Diseases +Do you have information about Assisted Living,"Summary : Assisted living is for adults who need help with everyday tasks. They may need help with dressing, bathing, eating, or using the bathroom, but they don't need full-time nursing care. Some assisted living facilities are part of retirement communities. Others are near nursing homes, so a person can move easily if needs change. Assisted living costs less than nursing home care. It is still fairly expensive. Older people or their families usually pay for it. Health and long-term care insurance policies may cover some of the costs. Medicare does not cover the costs of assisted living. Administration on Aging",MPlusHealthTopics,Assisted Living +What is (are) Wounds and Injuries ?,"An injury is damage to your body. It is a general term that refers to harm caused by accidents, falls, hits, weapons, and more. In the U.S., millions of people injure themselves every year. These injuries range from minor to life-threatening. Injuries can happen at work or play, indoors or outdoors, driving a car, or walking across the street. Wounds are injuries that break the skin or other body tissues. They include cuts, scrapes, scratches, and punctured skin. They often happen because of an accident, but surgery, sutures, and stitches also cause wounds. Minor wounds usually aren't serious, but it is important to clean them. Serious and infected wounds may require first aid followed by a visit to your doctor. You should also seek attention if the wound is deep, you cannot close it yourself, you cannot stop the bleeding or get the dirt out, or it does not heal. Other common types of injuries include - Bruises - Burns - Dislocations - Fractures - Sprains and strains",MPlusHealthTopics,Wounds and Injuries +What is (are) Hearing Aids ?,"A hearing aid is a small electronic device that you wear in or behind your ear. It makes some sounds louder. A hearing aid can help people hear more in both quiet and noisy situations. Hearing aids help people who have hearing loss from damage to the small sensory cells in the inner ear. The damage can occur as a result of disease, aging, or injury from noise or certain medicines. Only about one out of five people who would benefit from a hearing aid actually uses one. If you think a hearing aid could help you, visit your doctor. There are different kinds of hearing aids. They differ by size, their placement on or inside the ear, and how much they amplify sound. The hearing aid that will work best for you depends on what kind of hearing loss you have, and how severe it is. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Hearing Aids +Do you have information about Genetic Counseling,"Summary : Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. You may follow up with genetic testing. There are many reasons to seek genetic counseling. You may consider it if you - Have a personal or family history of a genetic condition or birth defect - Are pregnant or planning to be pregnant after age 35 - Already have a child with a genetic disorder or birth defect - Have had two or more pregnancy losses or a baby who died - Have had ultrasound or screening tests that suggest a possible problem Genetics Home Reference",MPlusHealthTopics,Genetic Counseling +What is (are) Kawasaki Disease ?,"Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the body become inflamed. It can affect any type of blood vessel, including the arteries, veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include - High fever that lasts longer than 5 days - Swollen lymph nodes in the neck - A rash on the mid-section and genital area - Red, dry, cracked lips and a red, swollen tongue - Red, swollen palms of the hands and soles of the feet - Redness of the eyes Kawasaki disease can't be passed from one child to another. There is no single test. To diagnose it, doctors look at the signs and symptoms. They may also use an echocardiogram or other tests. It is mainly treated with medicines. Rarely, medical procedures and surgery also may be used for children whose coronary arteries are affected. Kawasaki disease can't be prevented. However, most children who develop the disease fully recover - usually within weeks of getting signs and symptoms. Further problems are rare. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Kawasaki Disease +What is (are) Obesity in Children ?,"Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. Ask your health care provider to check whether your child's weight and height are in a healthy range. If a weight-loss program is necessary, involve the whole family in healthy habits so your child doesn't feel singled out. Encourage healthy eating by - Serving more fruits and vegetables - Buying fewer soft drinks and high-fat, high-calorie snack foods - Making sure your child eats breakfast every day - Eating fast food less often - Not using food as a reward Physical activity is also very important. Kids need about 60 minutes each day. It does not have to happen all at once. Several short periods of activity during the day are just as good. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Obesity in Children +What is (are) HIV/AIDS and Infections ?,"Having HIV/AIDS weakens your body's immune system. Your immune system normally fights germs that enter your body. When HIV/AIDS makes it weak, it can't fight germs well. This can lead to serious infections that don't often affect healthy people. These are called opportunistic infections (OIs). There are many types of OIs. Tuberculosis and a serious related disease, Mycobacterium avium complex (MAC) are bacterial infections. Viral infections include cytomegalovirus (CMV) and hepatitis C. Fungi cause thrush (candidiasis), cryptococcal meningitis, pneumocystis carinii pneumonia (PCP) and histoplasmosis, and parasites cause crypto (cryptosporidiosis) and toxo (toxoplasmosis). Having HIV/AIDS can make any infection harder to treat. People with AIDS are also more likely to suffer complications of common illnesses such as the flu. The good news is that you can help prevent infections by taking your HIV/AIDS medicines. Other things that can help include practicing safe sex, washing your hands well and often and cooking your food well.",MPlusHealthTopics,HIV/AIDS and Infections +What is (are) Insect Bites and Stings ?,"Most insect bites are harmless, though they sometimes cause discomfort. Bee, wasp, and hornet stings and fire ant bites usually hurt. Mosquito and flea bites usually itch. Insects can also spread diseases. In the United States, some mosquitoes spread West Nile virus. Travelers outside the United States may be at risk for malaria and other infections. To prevent insect bites and their complications - Don't bother insects - Use insect repellant - Wear protective clothing - Be careful when you eat outside because food attracts insects - If you know you have severe allergic reactions to insect bites and stings (such as anaphylaxis), carry an emergency epinephrine kit",MPlusHealthTopics,Insect Bites and Stings +Do you have information about Cosmetics,"Summary : Cosmetics are products you apply to your body to clean it, make it more attractive, or change the way it looks. They include - Hair dyes - Makeup - Perfumes - Skin-care creams Cosmetics that treat or prevent diseases are also drugs. Products such as dandruff shampoo, fluoride toothpaste, and antiperspirant deodorant are both cosmetics and drugs. A good way to tell if you're buying a cosmetic that is also a drug is to see if the first ingredient listed is an ""active ingredient."" The active ingredient is the chemical that makes the product effective. The manufacturer must have proof that it's safe for its intended use. Cosmetics can cause allergic reactions. The first sign is often red and irritated skin. Fragrances and preservatives are the most common causes of skin problems. To find out all the ingredients in a cosmetic you use, check the container. Manufacturers are required to list them. Labels such as ""natural"" and ""hypoallergenic"" have no official meaning. Companies can use them to mean whatever they want. Food and Drug Administration",MPlusHealthTopics,Cosmetics +What is (are) Bile Duct Cancer ?,"Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases. Symptoms can include - Jaundice - Itchy skin - Fever - Abdominal pain Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy. Treatments include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Bile Duct Cancer +What is (are) Smoking and Youth ?,"Smoking cigarettes has many health risks for everyone. However, the younger you are when you start smoking, the more problems it can cause. People who start smoking before the age of 21 have the hardest time quitting. Teens who smoke are also more likely to use alcohol and illegal drugs. The problem is not just cigarettes. Spit tobacco, e-cigarettes, and cigars are not safe alternatives to cigarettes. Low-tar and additive-free tobacco products are not safe either. Young people who do not start using tobacco by age 18 will most likely never start. Centers for Disease Control and Prevention",MPlusHealthTopics,Smoking and Youth +What is (are) Hyperthyroidism ?,"Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include - Being nervous or irritable - Mood swings - Fatigue or muscle weakness - Heat intolerance - Trouble sleeping - Hand tremors - Rapid and irregular heartbeat - Frequent bowel movements or diarrhea - Weight loss - Goiter, which is an enlarged thyroid that may cause the neck to look swollen To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hyperthyroidism +What is (are) Gas ?,"Everyone has gas. Most people pass gas 13 to 21 times a day. Passing gas through the mouth is called belching or burping. Passing gas through the anus is called flatulence. Most of the time gas does not have an odor. The odor comes from bacteria in the large intestine that release small amounts of gases that contain sulfur. Gas in the digestive tract comes from two sources: air that you swallow and the breakdown of undigested food by bacteria in the large intestine. Certain foods may cause gas. Foods that produce gas in one person may not cause gas in another. You can reduce the amount of gas you have by - Drinking lots of water and non-fizzy drinks - Eating more slowly so you swallow less air when you eat - Avoiding milk products if you have lactose intolerance Medicines can help reduce gas or the pain and bloating caused by gas. If your symptoms still bother you, see your health care provider. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Gas +What is (are) Smoking ?,"There's no way around it. Smoking is bad for your health. Smoking harms nearly every organ of the body. Cigarette smoking causes 87 percent of lung cancer deaths. It is also responsible for many other cancers and health problems. These include lung disease, heart and blood vessel disease, stroke and cataracts. Women who smoke have a greater chance of certain pregnancy problems or having a baby die from sudden infant death syndrome (SIDS). Your smoke is also bad for other people - they breathe in your smoke secondhand and can get many of the same problems as smokers do. E-cigarettes often look like cigarettes, but they work differently. They are battery-operated smoking devices. Not much is known about the health risks of using them. Quitting smoking can reduce your risk of health problems. The earlier you quit, the greater the benefit. NIH: National Cancer Institute",MPlusHealthTopics,Smoking +What is (are) Pelvic Support Problems ?,"The pelvic floor is a group of muscles and other tissues that form a sling or hammock across the pelvis. In women, it holds the uterus, bladder, bowel, and other pelvic organs in place so that they can work properly. The pelvic floor can become weak or be injured. The main causes are pregnancy and childbirth. Other causes include being overweight, radiation treatment, surgery, and getting older. Common symptoms include - Feeling heaviness, fullness, pulling, or aching in the vagina. It gets worse by the end of the day or during a bowel movement. - Seeing or feeling a ""bulge"" or ""something coming out"" of the vagina - Having a hard time starting to urinate or emptying the bladder completely - Having frequent urinary tract infections - Leaking urine when you cough, laugh, or exercise - Feeling an urgent or frequent need to urinate - Feeling pain while urinating - Leaking stool or having a hard time controlling gas - Being constipated - Having a hard time making it to the bathroom in time Your health care provider diagnoses the problem with a physical exam, a pelvic exam, or special tests. Treatments include special pelvic muscle exercises called Kegel exercises. A mechanical support device called a pessary helps some women. Surgery and medicines are other treatments. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Pelvic Support Problems +What is (are) Spider Bites ?,"Though many people are afraid of spiders, they rarely bite people unless threatened. Most spider bites are harmless. Occasionally, spider bites can cause allergic reactions. And bites by the venomous black widow and brown recluse spiders can be very dangerous to people. If you are bitten by a spider, you may see a reaction similar to that of a bee sting, including redness, pain and swelling at the site. To treat a spider bite: - Wash the area well with soap and water - Apply an ice pack or a wet compress to the area - Take over-the-counter pain medicine, if needed - Consider using antihistamines for severe swelling - Seek medical treatment for small children and adults with severe symptoms",MPlusHealthTopics,Spider Bites +Do you have information about Endoscopy,"Summary : Endoscopy is a procedure that lets your doctor look inside your body. It uses an instrument called an endoscope, or scope for short. Scopes have a tiny camera attached to a long, thin tube. The doctor moves it through a body passageway or opening to see inside an organ. Sometimes scopes are used for surgery, such as for removing polyps from the colon. There are many different kinds of endoscopy. Here are the names of some of them and where they look. - Arthroscopy: joints - Bronchoscopy: lungs - Colonoscopy and sigmoidoscopy: large intestine - Cystoscopy and ureteroscopy: urinary system - Laparoscopy: abdomen or pelvis - Upper gastrointestinal endoscopy: esophagus and stomach",MPlusHealthTopics,Endoscopy +What is (are) Skin Cancer ?,"Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. Anyone can get skin cancer, but it is more common in people who - Spend a lot of time in the sun or have been sunburned - Have light-colored skin, hair and eyes - Have a family member with skin cancer - Are over age 50 You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute",MPlusHealthTopics,Skin Cancer +What is (are) Toe Injuries and Disorders ?,"Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. Certain diseases, such as severe arthritis, can cause toe problems and pain. Gout often causes pain in the big toe. Common toe problems include - Corns and bunions - Ingrown toenails - Toe joint sprains and dislocations - Fractured toe bones Treatments for toe injuries and disorders vary. They might include shoe inserts or special shoes, padding, taping, medicines, rest, and in severe cases, surgery.",MPlusHealthTopics,Toe Injuries and Disorders +What is (are) Flu ?,"Flu is a respiratory infection caused by a number of viruses. The viruses pass through the air and enter your body through your nose or mouth. Between 5% and 20% of people in the U.S. get the flu each year. The flu can be serious or even deadly for elderly people, newborn babies, and people with certain chronic illnesses. Symptoms of the flu come on suddenly and are worse than those of the common cold. They may include - Body or muscle aches - Chills - Cough - Fever - Headache - Sore throat Is it a cold or the flu? Colds rarely cause a fever or headaches. Flu almost never causes an upset stomach. And ""stomach flu"" isn't really flu at all, but gastroenteritis. Most people with the flu recover on their own without medical care. People with mild cases of the flu should stay home and avoid contact with others, except to get medical care. If you get the flu, your health care provider may prescribe medicine to help your body fight the infection and lessen symptoms. The main way to keep from getting the flu is to get a yearly flu vaccine. Good hygiene, including hand washing, can also help. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Flu +What is (are) Family History ?,"Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, environment, and lifestyle. Looking at these factors can help you figure out whether you have a higher risk for certain health problems, such as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but it does not mean that you will definitely get it. Knowing that you are at risk gives you a chance to reduce that risk by following a healthier lifestyle and getting tested as needed. You can get started by talking to your relatives about their health. Draw a family tree and add the health information. Having copies of medical records and death certificates is also helpful. Centers for Disease Control and Prevention",MPlusHealthTopics,Family History +Do you have information about Caffeine,"Summary : Caffeine is a bitter substance found in coffee, tea, soft drinks, chocolate, kola nuts, and certain medicines. It has many effects on the body's metabolism, including stimulating the central nervous system. This can make you more alert and give you a boost of energy. For most people, the amount of caffeine in two to four cups of coffee a day is not harmful. However, too much caffeine can cause problems. It can - Make you jittery and shaky - Make it hard to fall asleep or stay asleep - Cause headaches or dizziness - Make your heart beat faster or cause abnormal heart rhythms - Cause dehydration - Make you dependent on it so you need to take more of it. If you stop using caffeine, you could get withdrawal symptoms. Some people are more sensitive to the effects of caffeine than others. They should limit their use of caffeine. So should pregnant and nursing women. Certain drugs and supplements may interact with caffeine. If you have questions about whether caffeine is safe for you, talk with your health care provider. Food and Drug Administration",MPlusHealthTopics,Caffeine +What is (are) Prostate Cancer ?,"The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may include - Problems passing urine, such as pain, difficulty starting or stopping the stream, or dribbling - Low back pain - Pain with ejaculation To diagnose prostate cancer, you doctor may do a digital rectal exam to feel the prostate for lumps or anything unusual. You may also get a blood test for prostate-specific antigen (PSA). These tests are also used in prostate cancer screening, which looks for cancer before you have symptoms. If your results are abnormal, you may need more tests, such as an ultrasound, MRI, or biopsy. Treatment often depends on the stage of the cancer. How fast the cancer grows and how different it is from surrounding tissue helps determine the stage. Men with prostate cancer have many treatment options. The treatment that's best for one man may not be best for another. The options include watchful waiting, surgery, radiation therapy, hormone therapy, and chemotherapy. You may have a combination of treatments. NIH: National Cancer Institute",MPlusHealthTopics,Prostate Cancer +Do you have information about Evaluating Health Information,"Summary : Millions of consumers get health information from magazines, TV or the Internet. Some of the information is reliable and up to date; some is not. How can you tell the good from the bad? First, consider the source. If you use the Web, look for an ""about us"" page. Check to see who runs the site: Is it a branch of the government, a university, a health organization, a hospital or a business? Focus on quality. Does the site have an editorial board? Is the information reviewed before it is posted? Be skeptical. Things that sound too good to be true often are. You want current, unbiased information based on research. NIH: National Library of Medicine",MPlusHealthTopics,Evaluating Health Information +What is (are) Sickle Cell Anemia ?,"Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait. The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet. A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs. Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Sickle Cell Anemia +Do you have information about Teen Mental Health,"Summary : Being a teenager is hard. You're under stress to be liked, do well in school, get along with your family, and make big decisions. You can't avoid most of these pressures, and worrying about them is normal. But feeling very sad, hopeless or worthless could be warning signs of a mental health problem. Mental health problems are real, painful, and sometimes severe. You might need help if you have the signs mentioned above, or if you - Often feel very angry or very worried - Feel grief for a long time after a loss or death - Think your mind is controlled or out of control - Use alcohol or drugs - Exercise, diet and/or binge-eat obsessively - Hurt other people or destroy property - Do reckless things that could harm you or others Mental health problems can be treated. To find help, talk to your parents, school counselor, or health care provider.",MPlusHealthTopics,Teen Mental Health +What is (are) Personality Disorders ?,"Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors that are unhealthy and inflexible. The behaviors cause serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and problems. They often have stormy relationships with other people. The cause of personality disorders is unknown. However, genes and childhood experiences may play a role. The symptoms of each personality disorder are different. They can mild or severe. People with personality disorders may have trouble realizing that they have a problem. To them, their thoughts are normal, and they often blame others for their problems. They may try to get help because of their problems with relationships and work. Treatment usually includes talk therapy and sometimes medicine.",MPlusHealthTopics,Personality Disorders +What is (are) Hypothyroidism ?,"Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include - Fatigue - Weight gain - A puffy face - Cold intolerance - Joint and muscle pain - Constipation - Dry skin - Dry, thinning hair - Decreased sweating - Heavy or irregular menstrual periods and fertility problems - Depression - Slowed heart rate To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Hypothyroidism +What is (are) Hernia ?,"A hernia happens when part of an internal organ or tissue bulges through a weak area of muscle. Most hernias are in the abdomen. There are several types of hernias, including - Inguinal, in the groin. This is the the most common type. - Umbilical, around the belly button - Incisional, through a scar - Hiatal, a small opening in the diaphragm that allows the upper part of the stomach to move up into the chest. - Congenital diaphragmatic, a birth defect that needs surgery Hernias are common. They can affect men, women, and children. A combination of muscle weakness and straining, such as with heavy lifting, might contribute. Some people are born with weak abdominal muscles and may be more likely to get a hernia. Treatment is usually surgery to repair the opening in the muscle wall. Untreated hernias can cause pain and health problems.",MPlusHealthTopics,Hernia +Do you have information about Uncommon Infant and Newborn Problems,"Summary : It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away. Learning information about your baby's condition can help ease your worry. Do not be afraid to ask questions about your baby's care. By working together with your health care provider, you make sure that your baby gets the best care possible.",MPlusHealthTopics,Uncommon Infant and Newborn Problems +Do you have information about X-Rays,"Summary : X-rays are a type of radiation called electromagnetic waves. X-ray imaging creates pictures of the inside of your body. The images show the parts of your body in different shades of black and white. This is because different tissues absorb different amounts of radiation. Calcium in bones absorbs x-rays the most, so bones look white. Fat and other soft tissues absorb less, and look gray. Air absorbs the least, so lungs look black. The most familiar use of x-rays is checking for broken bones, but x-rays are also used in other ways. For example, chest x-rays can spot pneumonia. Mammograms use x-rays to look for breast cancer. When you have an x-ray, you may wear a lead apron to protect certain parts of your body. The amount of radiation you get from an x-ray is small. For example, a chest x-ray gives out a radiation dose similar to the amount of radiation you're naturally exposed to from the environment over 10 days.",MPlusHealthTopics,X-Rays +What is (are) Kidney Stones ?,"A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: - Extreme pain in your back or side that will not go away - Blood in your urine - Fever and chills - Vomiting - Urine that smells bad or looks cloudy - A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Kidney Stones +Do you have information about Dental Health,"Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss. Here's how to keep your mouth and teeth healthy: - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - Don't smoke or chew tobacco - See your dentist or oral health professional regularly NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Dental Health +What is (are) Colonic Diseases ?,"Your colon, also known as the large intestine, is part of your digestive system. It's a long, hollow tube at the end of your digestive tract where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some of these include - Colorectal cancer - Colonic polyps - extra tissue growing in the colon that can become cancerous - Ulcerative colitis - ulcers of the colon and rectum - Diverticulitis - inflammation or infection of pouches in the colon - Irritable bowel syndrome - an uncomfortable condition causing abdominal cramping and other symptoms Treatment for colonic diseases varies greatly depending on the disease and its severity. Treatment may involve diet, medicines and in some cases, surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Colonic Diseases +What is (are) Heart Disease in Women ?,"In the United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and it happens slowly over time. It's the major reason people have heart attacks. Heart diseases that affect women more than men include - Coronary microvascular disease (MVD) - a problem that affects the heart's tiny arteries - Broken heart syndrome - extreme emotional stress leading to severe but often short-term heart muscle failure The older a woman gets, the more likely she is to get heart disease. But women of all ages should be concerned about heart disease. All women can take steps to prevent it by practicing healthy lifestyle habits. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Disease in Women +What is (are) Vaginal Cancer ?,"Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human papillomavirus (HPV) infection or if your mother took diethylstilbestrol (DES) when she was pregnant. Doctors prescribed DES in the 1950's to prevent miscarriages. You are also at higher risk if you have had abnormal cells in the vagina, cervix, or uterus. It often doesn't have early symptoms. However, see your doctor if you notice - Bleeding that is not your period - A vaginal lump - Pelvic pain A Pap test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its early stages. Treatment might include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute",MPlusHealthTopics,Vaginal Cancer +What is (are) Dehydration ?,"When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. Elderly people, young children and some special cases - like people taking certain medications - need to be a little more careful. Signs of dehydration in adults include - Being thirsty - Urinating less often than usual - Dark-colored urine - Dry skin - Feeling tired - Dizziness and fainting Signs of dehydration in babies and young children include a dry mouth and tongue, crying without tears, no wet diapers for 3 hours or more, a high fever and being unusually sleepy or drowsy. If you think you're dehydrated, drink small amounts of water over a period of time. Taking too much all at once can overload your stomach and make you throw up. For people exercising in the heat and losing a lot of minerals in sweat, sports drinks can be helpful. Avoid any drinks that have caffeine.",MPlusHealthTopics,Dehydration +Do you have information about Disaster Preparation and Recovery,"Summary : Preparing for a disaster can reduce the fear, anxiety and losses that disasters cause. A disaster can be a natural disaster, like a hurricane, tornado, flood or earthquake. It might also be man-made, like a bioterrorist attack or chemical spill. You should know the risks and danger signs of different types of disasters. You should also have a disaster plan. Be ready to evacuate your home, and know how to treat basic medical problems. Make sure you have the insurance you need, including special types, like flood insurance. No matter what kind of disaster you experience, it causes emotional distress. After a disaster, recovery can take time. Stay connected to your family and friends during this period. Federal Emergency Management Agency",MPlusHealthTopics,Disaster Preparation and Recovery +What is (are) Encephalitis ?,"Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. Severe cases need immediate treatment. Symptoms of severe cases include - Severe headache - Sudden fever - Drowsiness - Vomiting - Confusion - Seizures In babies, additional symptoms may include constant crying, poor feeding, body stiffness, and bulging in the soft spots of the skull. Severe cases may require a stay in the hospital. Treatments include oral and intravenous medicines to reduce inflammation and treat infection. Patients with breathing difficulties may need artificial respiration. Some people may need physical, speech, and occupational therapy once the illness is under control. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Encephalitis +What is (are) Hives ?,"Hives are red and sometimes itchy bumps on your skin. An allergic reaction to a drug or food usually causes them. Allergic reactions cause your body to release chemicals that can make your skin swell up in hives. People who have other allergies are more likely to get hives than other people. Other causes include infections and stress. Hives are very common. They usually go away on their own, but if you have a serious case, you might need medicine or a shot. In rare cases, hives can cause a dangerous swelling in your airways, making it hard to breathe - which is a medical emergency.",MPlusHealthTopics,Hives +Do you have information about Anatomy,"Summary : Anatomy is the science that studies the structure of the body. On this page, you'll find links to descriptions and pictures of the human body's parts and organ systems from head to toe.",MPlusHealthTopics,Anatomy +What is (are) Suicide ?,"Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event. People who have the highest risk of suicide are white men. But women and teens report more suicide attempts. If someone talks about suicide, you should take it seriously. Urge them to get help from their doctor or the emergency room, or call the National Suicide Prevention Lifeline at 1-800-273-TALK (8255). It is available 24/7. Therapy and medicines can help most people who have suicidal thoughts. Treating mental illnesses and substance abuse can reduce the risk of suicide. NIH: National Institute of Mental Health",MPlusHealthTopics,Suicide +Do you have information about Assisted Reproductive Technology,"Summary : Assisted reproductive technology (ART) is used to treat infertility. It includes fertility treatments that handle both a woman's egg and a man's sperm. It works by removing eggs from a woman's body. The eggs are then mixed with sperm to make embryos. The embryos are then put back in the woman's body. In vitro fertilization (IVF) is the most common and effective type of ART. ART procedures sometimes use donor eggs, donor sperm, or previously frozen embryos. It may also involve a surrogate or gestational carrier. A surrogate is a woman who becomes pregnant with sperm from the male partner of the couple. A gestational carrier becomes pregnant with an egg from the female partner and the sperm from the male partner. The most common complication of ART is a multiple pregnancy. It can be prevented or minimized by limiting the number of embryos that are put into the woman's body.",MPlusHealthTopics,Assisted Reproductive Technology +What is (are) Autoimmune Diseases ?,"Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.",MPlusHealthTopics,Autoimmune Diseases +What is (are) Carbon Monoxide Poisoning ?,"Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. You can be poisoned by breathing them in. The most common symptoms of CO poisoning are - Headache - Dizziness - Weakness - Nausea - Vomiting - Chest pain - Confusion It is often hard to tell if someone has CO poisoning, because the symptoms may be like those of other illnesses. People who are sleeping or intoxicated can die from CO poisoning before they have symptoms. A CO detector can warn you if you have high levels of CO in your home. Centers for Disease Control and Prevention",MPlusHealthTopics,Carbon Monoxide Poisoning +What is (are) Craniofacial Abnormalities ?,"Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.",MPlusHealthTopics,Craniofacial Abnormalities +What is (are) Heartburn ?,"Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach. If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn. Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus. Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery. If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.",MPlusHealthTopics,Heartburn +What is (are) Tay-Sachs Disease ?,"Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Tay-Sachs Disease +Do you have information about Vitamin A,"Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin A plays a role in your - Vision - Bone growth - Reproduction - Cell functions - Immune system Vitamin A is an antioxidant. It can come from plant or animal sources. Plant sources include colorful fruits and vegetables. Animal sources include liver and whole milk. Vitamin A is also added to foods like cereals. Vegetarians, young children, and alcoholics may need extra Vitamin A. You might also need more if you have certain conditions, such as liver diseases, cystic fibrosis, and Crohn's disease. Check with your health care provider to see if you need to take vitamin A supplements. NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Vitamin A +Do you have information about CPR,"Summary : When someone's blood flow or breathing stops, seconds count. Permanent brain damage or death can happen quickly. If you know how to perform cardiopulmonary resuscitation (CPR), you could save a life. CPR is an emergency procedure for a person whose heart has stopped or is no longer breathing. CPR can maintain circulation and breathing until emergency medical help arrives. Even if you haven't had training, you can do ""hands-only"" CPR for a teen or adult whose heart has stopped beating (""hands-only"" CPR isn't recommended for children). ""Hands-only"" CPR uses chest compressions to keep blood circulating until emergency help arrives. If you've had training, you can use chest compressions, clear the airway, and do rescue breathing. Rescue breathing helps get oxygen to the lungs for a person who has stopped breathing. To keep your skills up, you should repeat the training every two years.",MPlusHealthTopics,CPR +What is (are) Malaria ?,"Malaria is a serious disease caused by a parasite. You get it when an infected mosquito bites you. Malaria is a major cause of death worldwide, but it is almost wiped out in the United States. The disease is mostly a problem in developing countries with warm climates. If you travel to these countries, you are at risk. There are four different types of malaria caused by four related parasites. The most deadly type occurs in Africa south of the Sahara Desert. Malaria symptoms include chills, flu-like symptoms, fever, vomiting, diarrhea, and jaundice. A blood test can diagnose it. It can be life-threatening. However, you can treat malaria with drugs. The type of drug depends on which kind of malaria you have and where you were infected. Malaria can be prevented. When traveling to areas where malaria is found - See your doctor for medicines that protect you - Wear insect repellent with DEET - Cover up - Sleep under mosquito netting Centers for Disease Control and Prevention",MPlusHealthTopics,Malaria +What is (are) Juvenile Arthritis ?,"Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well. The most common type of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting children. One early sign of JA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JA can cause growth problems and eye inflammation in some children. No one knows exactly what causes JA. Most types are autoimmune disorders. This means that your immune system, which normally helps your body fight infection, attacks your body's own tissues. JA can be hard to diagnose. Your health care provider may do a physical exam, lab tests, and x-rays. A team of providers usually treats JA. Medicines and physical therapy can help maintain movement and reduce swelling and pain. They may also help prevent and treat complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Juvenile Arthritis +What is (are) Cushing's Syndrome ?,"Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, taking synthetic hormone medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are - Upper body obesity - Thin arms and legs - Severe fatigue and muscle weakness - High blood pressure - High blood sugar - Easy bruising Lab tests can show if you have it and find the cause. Your treatment will depend on why you have too much cortisol. If it is because you have been taking synthetic hormones, a lower dose may control your symptoms. If the cause is a tumor, surgery and other therapies may be needed. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Cushing's Syndrome +What is (are) Dry Mouth ?,"Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. Symptoms of dry mouth include - A sticky, dry feeling in the mouth - Trouble chewing, swallowing, tasting, or speaking - A burning feeling in the mouth - A dry feeling in the throat - Cracked lips - A dry, rough tongue - Mouth sores - An infection in the mouth Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. Things you can do include sipping water, avoiding drinks with caffeine, tobacco, and alcohol, and chewing sugarless gum or sucking on sugarless hard candy. NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Dry Mouth +Do you have information about Puberty,"Summary : Puberty is the time in life when a boy or girl becomes sexually mature. It is a process that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. It causes physical changes, and affects boys and girls differently. In girls: - The first sign of puberty is usually breast development. - Then hair grows in the pubic area and armpits. - Menstruation (or a period) usually happens last. In boys: - Puberty usually begins with the testicles and penis getting bigger. - Then hair grows in the pubic area and armpits. - Muscles grow, the voice deepens, and facial hair develops as puberty continues. Both boys and girls may get acne. They also usually have a growth spurt (a rapid increase in height) that lasts for about 2 or 3 years. This brings them closer to their adult height, which they reach after puberty. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Puberty +Do you have information about Liver Transplantation,"Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a damaged liver working. During a liver transplantation, the surgeon removes the diseased liver and replaces it with a healthy one. Most transplant livers come from a donor who has died. Sometimes there is a living donor. This is when a healthy person donates part of his or her liver for a specific patient. The most common reason for a transplant in adults is cirrhosis. This is scarring of the liver, caused by injury or long-term disease. The most common reason in children is biliary atresia, a disease of the bile ducts. If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new liver. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Liver Transplantation +What is (are) Polio and Post-Polio Syndrome ?,"Polio is an infectious disease caused by a virus. The virus lives in an infected person's throat and intestines. It is most often spread by contact with the stool of an infected person. You can also get it from droplets if an infected person sneezes or coughs. It can contaminate food and water if people do not wash their hands. Most people have no symptoms. If you have symptoms, they may include fever, fatigue, nausea, headache, flu-like symptoms, stiff neck and back, and pain in the limbs. A few people will become paralyzed. There is no treatment to reverse the paralysis of polio. Some people who've had polio develop post-polio syndrome (PPS) years later. Symptoms include tiredness, new muscle weakness, and muscle and joint pain. There is no way to prevent or cure PPS. The polio vaccine has wiped out polio in the United States and most other countries. Centers for Disease Control and Prevention",MPlusHealthTopics,Polio and Post-Polio Syndrome +What is (are) Growth Disorders ?,"Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be developing normally. Some children are short or tall because their parents are. But some children have growth disorders. Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. The pituitary gland makes growth hormone, which stimulates the growth of bone and other tissues. Children who have too little of it may be very short. Treatment with growth hormone can stimulate growth. People can also have too much growth hormone. Usually the cause is a pituitary gland tumor, which is not cancer. Too much growth hormone can cause gigantism in children, where their bones and their body grow too much. In adults, it can cause acromegaly, which makes the hands, feet and face larger than normal. Possible treatments include surgery to remove the tumor, medicines, and radiation therapy.",MPlusHealthTopics,Growth Disorders +What is (are) Myelodysplastic Syndromes ?,"Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include - Shortness of breath - Weakness or feeling tired - Skin that is paler than usual - Easy bruising or bleeding - Pinpoint spots under the skin caused by bleeding - Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute",MPlusHealthTopics,Myelodysplastic Syndromes +What is (are) Learning Disorders ?,"Learning disorders affect how a person understands, remembers and responds to new information. People with learning disorders may have problems - Listening or paying attention - Speaking - Reading or writing - Doing math Although learning disorders occur in very young children, they are usually not recognized until the child reaches school age. About one-third of children who have learning disabilities also have ADHD, which makes it hard to focus. Evaluation and testing by a trained professional can help identify a learning disorder. The next step is special education, which involves helping your child in the areas where he or she needs the most help. Sometimes tutors or speech or language therapists also work with the children. Learning disorders do not go away, but strategies to work around them can make them less of a problem. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Learning Disorders +What is (are) G6PD Deficiency ?,"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include - Paleness - Jaundice - Dark urine - Fatigue - Shortness of breath - Enlarged spleen - Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine",MPlusHealthTopics,G6PD Deficiency +What is (are) Bruises ?,"A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin. Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the most serious. It can take months for a bruise to fade, but most last about two weeks. They start off a reddish color, and then turn bluish-purple and greenish-yellow before returning to normal. To reduce bruising, ice the injured area and elevate it above your heart. See your healthcare provider if you seem to bruise for no reason, or if the bruise appears to be infected.",MPlusHealthTopics,Bruises +What is (are) Toilet Training ?,"Is your child ready to use a potty? The more important question may be, are you? Children are usually ready around ages 18-24 months. They often signal that they are ready by letting you know when their diapers need changing. You should be prepared to commit to three months of daily encouragement. Successful trips to the potty should be rewarded. Missteps shouldn't get as much attention. Training requires patience. If it is not successful, it may mean your child is not ready.",MPlusHealthTopics,Toilet Training +What is (are) Chronic Fatigue Syndrome ?,"Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You also have at least four of these other symptoms: - Feeling unwell for more than 24 hours after physical activity - Muscle pain - Memory problems - Headaches - Pain in multiple joints - Sleep problems - Sore throat - Tender lymph nodes CFS is hard to diagnose. There are no tests for it, and other illnesses can cause similar symptoms. Your doctor has to rule out other diseases before making a diagnosis of CFS. No one knows what causes CFS. It is most common in women in their 40s and 50s, but anyone can have it. It can last for years. There is no cure for CFS, so the goal of treatment is to improve symptoms. Medicine may treat pain, sleep disorders, and other problems. Lifestyle changes, coping techniques, and a special, gradual exercise program can also help. Centers for Disease Control and Prevention",MPlusHealthTopics,Chronic Fatigue Syndrome +Do you have information about Blood Transfusion and Donation,"Summary : Every year, millions of people in the United States receive life-saving blood transfusions. During a transfusion, you receive whole blood or parts of blood such as - Red blood cells - cells that carry oxygen to and from tissues and organs - Platelets - cells that form clots to control bleeding - Plasma - the liquid part of the blood that helps clotting. You may need it if you have been badly burned, have liver failure or a severe infection. Most blood transfusions go very smoothly. Some infectious agents, such as HIV, can survive in blood and infect the person receiving the blood transfusion. To keep blood safe, blood banks carefully screen donated blood. The risk of catching a virus from a blood transfusion is low. Sometimes it is possible to have a transfusion of your own blood. During surgery, you may need a blood transfusion because of blood loss. If you are having a surgery that you're able to schedule months in advance, your doctor may ask whether you would like to use your own blood, instead of donated blood. If so, you will need to have blood drawn one or more times before the surgery. A blood bank will store your blood for your use. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Blood Transfusion and Donation +Do you have information about Pregnancy,"Summary : So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you.",MPlusHealthTopics,Pregnancy +What is (are) Herniated Disk ?,"Your backbone, or spine, is made up of 26 bones called vertebrae. In between them are soft disks filled with a jelly-like substance. These disks cushion the vertebrae and keep them in place. As you age, the disks break down or degenerate. As they do, they lose their cushioning ability. This can lead to pain if the back is stressed. A herniated disk is a disk that ruptures. This allows the jelly-like center of the disk to leak, irritating the nearby nerves. This can cause sciatica or back pain. Your doctor will diagnose a herniated disk with a physical exam and, sometimes, imaging tests. With treatment, most people recover. Treatments include rest, pain and anti-inflammatory medicines, physical therapy, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",MPlusHealthTopics,Herniated Disk +Do you have information about Ergonomics,"Summary : Ergonomics looks at what kind of work you do, what tools you use and your whole job environment. The aim is to find the best fit between you and your job conditions. Examples of ergonomic changes to your work might include - Adjusting the position of your computer keyboard to prevent carpal tunnel syndrome - Being sure that the height of your desk chair allows your feet to rest flat on floor - Learning the right way to lift heavy objects to prevent back injuries - Using handle coatings or special gloves to suppress vibrations from power tools No matter what the job is, the goal is to make sure that you are safe, comfortable, and less prone to work-related injuries.",MPlusHealthTopics,Ergonomics +What is (are) Gum Disease ?,"If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth. In gingivitis, the gums become red and swollen. They can bleed easily. Gingivitis is a mild form of gum disease. You can usually reverse it with daily brushing and flossing and regular cleanings by a dentist or dental hygienist. Untreated gingivitis can lead to periodontitis. If you have periodontitis, the gums pull away from the teeth and form pockets that become infected. If not treated, the bones, gums and connective tissue that support the teeth are destroyed. NIH: National Institute of Dental and Craniofacial Research",MPlusHealthTopics,Gum Disease +What is (are) Menstruation ?,"Menstruation, or period, is normal vaginal bleeding that occurs as part of a woman's monthly cycle. Every month, your body prepares for pregnancy. If no pregnancy occurs, the uterus, or womb, sheds its lining. The menstrual blood is partly blood and partly tissue from inside the uterus. It passes out of the body through the vagina. Periods usually start between age 11 and 14 and continue until menopause at about age 51. They usually last from three to five days. Besides bleeding from the vagina, you may have - Abdominal or pelvic cramping - Lower back pain - Bloating and sore breasts - Food cravings - Mood swings and irritability - Headache and fatigue Premenstrual syndrome, or PMS, is a group of symptoms that start before the period. It can include emotional and physical symptoms. Consult your health care provider if you have big changes in your cycle. They may be signs of other problems that should be treated. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Menstruation +Do you have information about Child Mental Health,"Summary : It's important to recognize and treat mental illnesses in children early on. Once mental illness develops, it becomes a regular part of your child's behavior and is more difficult to treat. But it's not always easy to know when your child has a serious problem. Everyday stresses can cause changes in your child's behavior. For example, getting a new brother or sister or going to a new school may cause a child to temporarily act out. Warning signs that it might be a more serious problem include - Problems in more than one setting (at school, at home, with peers) - Changes in appetite or sleep - Social withdrawal or fear of things he or she did not used to be not afraid of - Returning to behaviors more common in younger children, such as bedwetting - Signs of being upset, such as sadness or tearfulness - Signs of self-destructive behavior, such as head-banging or suddenly getting hurt often - Repeated thoughts of death To diagnose mental health problems, the doctor or mental health specialist looks at your child's signs and symptoms, medical history, and family history. Treatments include medicines and talk therapy. NIH: National Institute of Mental Health",MPlusHealthTopics,Child Mental Health +What is (are) Brain Tumors ?,"A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, or malignant, with cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are metastatic, and they start somewhere else in the body and move to the brain. Brain tumors can cause many symptoms. Some of the most common are - Headaches, often in the morning - Nausea and vomiting - Changes in your ability to talk, hear, or see - Problems with balance or walking - Problems with thinking or memory - Feeling weak or sleepy - Changes in your mood or behavior - Seizures Doctors diagnose brain tumors by doing a neurologic exam and tests including an MRI, CT scan, and biopsy. Treatment options include watchful waiting, surgery, radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Many people get a combination of treatments. NIH: National Cancer Institute",MPlusHealthTopics,Brain Tumors +What is (are) Diabetes ?,"Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes +What is (are) Psoriatic Arthritis ?,"Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get them on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people with psoriasis have psoriatic arthritis. It causes pain, stiffness, and swelling of the joints. It is often mild, but can sometimes be serious and affect many joints. The joint and skin problems don't always happen at the same time. Your doctor will do a physical exam and imaging tests to diagnose psoriatic arthritis. There is no cure, but medicines can help control inflammation and pain. In rare cases, you might need surgery to repair or replace damaged joints.",MPlusHealthTopics,Psoriatic Arthritis +Do you have information about Teens' Page,"Summary : If you are a teenager, this page is for you! It includes materials specifically for you - not for your parents - about health and safety for teens. There are quizzes, games and lots of cool web sites for you to explore. Have fun!",MPlusHealthTopics,Teens' Page +What is (are) Tetanus ?,"Tetanus is a serious illness caused by Clostridium bacteria. The bacteria live in soil, saliva, dust, and manure. The bacteria can enter the body through a deep cut, like those you might get from stepping on a nail, or through a burn. The infection causes painful tightening of the muscles, usually all over the body. It can lead to ""locking"" of the jaw. This makes it impossible to open your mouth or swallow. Tetanus is a medical emergency. You need to get treatment in a hospital. A vaccine can prevent tetanus. It is given as a part of routine childhood immunization. Adults should get a tetanus shot, or booster, every 10 years. If you get a bad cut or burn, see your doctor - you may need a booster. Immediate and proper wound care can prevent tetanus infection.",MPlusHealthTopics,Tetanus +What is (are) Vaginal Diseases ?,"Vaginal problems are some of the most common reasons women go to the doctor. They may have symptoms such as - Itching - Burning - Pain - Abnormal bleeding - Discharge Often, the problem is vaginitis, an inflammation of the vagina. The main symptom is smelly vaginal discharge, but some women have no symptoms. Common causes are bacterial infections, trichomoniasis, and yeast infections. Some other causes of vaginal symptoms include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems depends on the cause.",MPlusHealthTopics,Vaginal Diseases +Do you have information about Pulmonary Rehabilitation,"Summary : Pulmonary rehabilitation (rehab) is a medically supervised program to help people who have chronic breathing problems, including - COPD (chronic obstructive pulmonary disease) - Sarcoidosis - Idiopathic pulmonary fibrosis - Cystic fibrosis During pulmonary rehab you may do exercise training and learn breathing techniques. You'll also get tips on conserving your energy and advice on nutrition and coping. These can't cure your lung disease or completely ease your breathing problems. But it can help you function better in your daily life. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Pulmonary Rehabilitation +What is (are) Congenital Heart Defects ?,"A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include - Rapid breathing - Cyanosis - a bluish tint to the skin, lips, and fingernails - Fatigue - Poor blood circulation Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Congenital Heart Defects +What is (are) Obsessive-Compulsive Disorder ?,"Obsessive-compulsive disorder (OCD) is a type of anxiety disorder. If you have OCD, you have frequent, upsetting thoughts called obsessions. To try to control the thoughts, you feel an overwhelming urge to repeat certain rituals or behaviors. These are called compulsions. Examples of obsessions are a fear of germs or a fear of being hurt. Compulsions include washing your hands, counting, checking on things, or cleaning. With OCD, the thoughts and rituals cause distress and get in the way of your daily life. Researchers think brain circuits may not work properly in people who have OCD. It tends to run in families. The symptoms often begin in children or teens. Treatments include therapy, medicines, or both. One type of therapy, cognitive behavioral therapy, is useful for treating OCD. NIH: National Institute of Mental Health",MPlusHealthTopics,Obsessive-Compulsive Disorder +Do you have information about Complementary and Integrative Medicine,"Summary : Many Americans use medical treatments that are not part of mainstream medicine. When you are using these types of care, it may be called complementary, integrative, or alternative medicine. Complementary medicine is used together with mainstream medical care. An example is using acupuncture to help with side effects of cancer treatment. When health care providers and facilities offer both types of care, it is called integrative medicine. Alternative medicine is used instead of mainstream medical care. The claims that non-mainstream practitioners make can sound promising. However, researchers do not know how safe many of these treatments are or how well they work. Studies are underway to determine the safety and usefulness of many of these practices. To minimize the health risks of a non-mainstream treatment - Discuss it with your doctor. It might have side effects or interact with other medicines. - Find out what the research says about it - Choose practitioners carefully - Tell all of your doctors and practitioners about all of the different types of treatments you use NIH: National Center for Complementary and Integrative Health",MPlusHealthTopics,Complementary and Integrative Medicine +What is (are) Self-harm ?,"Self-harm refers to a person's harming their own body on purpose. About 1 in 100 people hurts himself or herself in this way. More females hurt themselves than males. A person who self-harms usually does not mean to kill himself or herself. But they are at higher risk of attempting suicide if they do not get help. Self-harm tends to begin in teen or early adult years. Some people may engage in self-harm a few times and then stop. Others engage in it more often and have trouble stopping. Examples of self-harm include - Cutting yourself (such as using a razor blade, knife, or other sharp object to cut the skin) - Punching yourself or punching things (like a wall) - Burning yourself with cigarettes, matches, or candles - Pulling out your hair - Poking objects through body openings - Breaking your bones or bruising yourself Many people cut themselves because it gives them a sense of relief. Some people use cutting as a means to cope with a problem. Some teens say that when they hurt themselves, they are trying to stop feeling lonely, angry, or hopeless. It is possible to overcome the urge to hurt yourself. There are other ways to find relief and cope with your emotions. Counseling may help. Dept. of Health and Human Services, Office on Women's Health",MPlusHealthTopics,Self-harm +Do you have information about Tsunamis,"Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with waves as high as 100 feet or more and cause devastating floods. Drowning is the most common cause of death related to a tsunami. Although there are no guarantees of safety during a tsunami, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",MPlusHealthTopics,Tsunamis +What is (are) Peripheral Arterial Disease ?,"Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of PAD is atherosclerosis. This happens when plaque builds up on the walls of the arteries that supply blood to the arms and legs. Plaque is a substance made up of fat and cholesterol. It causes the arteries to narrow or become blocked. This can reduce or stop blood flow, usually to the legs. If severe enough, blocked blood flow can cause tissue death and can sometimes lead to amputation of the foot or leg. The main risk factor for PAD is smoking. Other risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, heart disease, and stroke. Many people who have PAD don't have any symptoms. If you have symptoms, they may include - Pain, numbness, achiness, or heaviness in the leg muscles. This happens when walking or climbing stairs. - Weak or absent pulses in the legs or feet - Sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all - A pale or bluish color to the skin - A lower temperature in one leg than the other leg - Poor nail growth on the toes and decreased hair growth on the legs - Erectile dysfunction, especially among men who have diabetes PAD can increase your risk of heart attack, stroke, and transient ischemic attack. Doctors diagnose PAD with a physical exam and heart and imaging tests. Treatments include lifestyle changes, medicines, and sometimes surgery. Lifestyle changes include dietary changes, exercise, and efforts to lower high cholesterol levels and high blood pressure. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Peripheral Arterial Disease +What is (are) Sexually Transmitted Diseases ?,"Sexually transmitted diseases (STDs) are infections that you can get from having sex with someone who has the infection. The causes of STDs are bacteria, parasites and viruses. There are more than 20 types of STDs, including - Chlamydia - Gonorrhea - Genital herpes - HIV/AIDS - HPV - Syphilis - Trichomoniasis Most STDs affect both men and women, but in many cases the health problems they cause can be more severe for women. If a pregnant woman has an STD, it can cause serious health problems for the baby. If you have an STD caused by bacteria or parasites, your health care provider can treat it with antibiotics or other medicines. If you have an STD caused by a virus, there is no cure. Sometimes medicines can keep the disease under control. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading STDs. Centers for Disease Control and Prevention",MPlusHealthTopics,Sexually Transmitted Diseases +What is (are) Diverticulosis and Diverticulitis ?,"Diverticula are small pouches that bulge outward through the colon, or large intestine. If you have these pouches, you have a condition called diverticulosis. It becomes more common as people age. About half of all people over age 60 have it. Doctors believe the main cause is a low-fiber diet. Most people with diverticulosis don't have symptoms. Sometimes it causes mild cramps, bloating or constipation. Diverticulosis is often found through tests ordered for something else. For example, it is often found during a colonoscopy to screen for cancer. A high-fiber diet and mild pain reliever will often relieve symptoms. If the pouches become inflamed or infected, you have a condition called diverticulitis. The most common symptom is abdominal pain, usually on the left side. You may also have fever, nausea, vomiting, chills, cramping, and constipation. In serious cases, diverticulitis can lead to bleeding, tears, or blockages. Your doctor will do a physical exam and imaging tests to diagnose it. Treatment may include antibiotics, pain relievers, and a liquid diet. A serious case may require a hospital stay or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diverticulosis and Diverticulitis +What is (are) Rectal Disorders ?,"The rectum is the lower part of your large intestine where your body stores stool. Problems with rectum are common. They include hemorrhoids, abscesses, incontinence and cancer. Many people are embarrassed to talk about rectal troubles. But seeing your doctor about problems in this area is important. This is especially true if you have pain or bleeding. Treatments vary widely depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Rectal Disorders +What is (are) Metabolic Disorders ?,"Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.",MPlusHealthTopics,Metabolic Disorders +What is (are) Chronic Bronchitis ?,"Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. Chronic bronchitis is one type of COPD (chronic obstructive pulmonary disease). The inflamed bronchial tubes produce a lot of mucus. This leads to coughing and difficulty breathing. Cigarette smoking is the most common cause. Breathing in air pollution, fumes, or dust over a long period of time may also cause it. To diagnose chronic bronchitis, your doctor will look at your signs and symptoms and listen to your breathing. You may also have other tests. Chronic bronchitis is a long-term condition that keeps coming back or never goes away completely. If you smoke, it is important to quit. Treatment can help with your symptoms. It often includes medicines to open your airways and help clear away mucus. You may also need oxygen therapy. Pulmonary rehabilitation may help you manage better in daily life. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Chronic Bronchitis +What is (are) Child Abuse ?,"Child abuse is doing something or failing to do something that results in harm to a child or puts a child at risk of harm. Child abuse can be physical, sexual or emotional. Neglect, or not providing for a child's needs, is also a form of abuse. Most abused children suffer greater emotional than physical damage. An abused child may become depressed. He or she may withdraw, think of suicide or become violent. An older child may use drugs or alcohol, try to run away or abuse others. Child abuse is a serious problem. If you suspect a child is being abused or neglected, call the police or your local child welfare agency.",MPlusHealthTopics,Child Abuse +Do you have information about Herbal Medicine,"Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. Many people believe that products labeled ""natural"" are always safe and good for them. This is not necessarily true. Herbal medicines do not have to go through the testing that drugs do. Some herbs, such as comfrey and ephedra, can cause serious harm. Some herbs can interact with prescription or over-the-counter medicines. If you are thinking about using an herbal medicine, first get information on it from reliable sources. Make sure to tell your health care provider about any herbal medicines you are taking. NIH: National Center for Complementary and Integrative Health",MPlusHealthTopics,Herbal Medicine +What is (are) Psychotic Disorders ?,"Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.",MPlusHealthTopics,Psychotic Disorders +What is (are) Hypothermia ?,"Cold weather can affect your body in different ways. You can get frostbite, which is frozen body tissue. Your body can also lose heat faster than you can produce it. The result is hypothermia, or abnormally low body temperature. It can make you sleepy, confused and clumsy. Because it happens gradually and affects your thinking, you may not realize you need help. That makes it especially dangerous. A body temperature below 95 F is a medical emergency and can lead to death if not treated promptly. Anyone who spends much time outdoors in cold weather can get hypothermia. You can also get it from being cold and wet, or under cold water for too long. Babies and old people are especially at risk. Babies can get it from sleeping in a cold room. Centers for Disease Control and Prevention",MPlusHealthTopics,Hypothermia +What is (are) Syringomyelia ?,"Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as - Pain and weakness in the back, shoulders, arms or legs - Headaches - Inability to feel hot or cold Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.",MPlusHealthTopics,Syringomyelia +What is (are) Ataxia Telangiectasia ?,"Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include - Ataxia - trouble coordinating movements - Poor balance - Slurred speech - Tiny, red spider veins, called telangiectasias, on the skin and eyes - Lung infections - Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Ataxia Telangiectasia +What is (are) Pancreatitis ?,"The pancreas is a large gland behind the stomach and close to the first part of the small intestine. It secretes digestive juices into the small intestine through a tube called the pancreatic duct. The pancreas also releases the hormones insulin and glucagon into the bloodstream. Pancreatitis is inflammation of the pancreas. It happens when digestive enzymes start digesting the pancreas itself. Pancreatitis can be acute or chronic. Either form is serious and can lead to complications. Acute pancreatitis occurs suddenly and usually goes away in a few days with treatment. It is often caused by gallstones. Common symptoms are severe pain in the upper abdomen, nausea, and vomiting. Treatment is usually a few days in the hospital for intravenous (IV) fluids, antibiotics, and medicines to relieve pain. Chronic pancreatitis does not heal or improve. It gets worse over time and leads to permanent damage. The most common cause is heavy alcohol use. Other causes include cystic fibrosis and other inherited disorders, high levels of calcium or fats in the blood, some medicines, and autoimmune conditions. Symptoms include nausea, vomiting, weight loss, and oily stools. Treatment may also be a few days in the hospital for intravenous (IV) fluids, medicines to relieve pain, and nutritional support. After that, you may need to start taking enzymes and eat a special diet. It is also important to not smoke or drink alcohol. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Pancreatitis +What is (are) Uterine Fibroids ?,"Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include - Heavy or painful periods or bleeding between periods - Feeling ""full"" in the lower abdomen - Urinating often - Pain during sex - Lower back pain - Reproductive problems, such as infertility, multiple miscarriages or early labor Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Uterine Fibroids +Do you have information about Teen Sexual Health,"Summary : During your teens you go through puberty and become sexually mature. If you're a girl, you develop breasts and begin to get your period. If you're a boy, your penis and testicles become larger. If you have sex, you could get pregnant or get someone pregnant. Whether you choose to have sex or not, it is a good idea to know about safe sex and how sex affects your health. Besides pregnancy, having sex puts you at risk of getting a sexually transmitted disease, such as herpes or genital warts, or HIV, the virus that causes AIDS. The only way to be completely safe is not to have sex. If you choose to have sex, however, latex condoms are the best protection against sexually transmitted diseases (STDs). Condoms are also a form of birth control to help prevent pregnancy.",MPlusHealthTopics,Teen Sexual Health +What is (are) H1N1 Flu (Swine Flu) ?,"Swine flu is an infection caused by a virus. It's named for a virus that pigs can get. People do not normally get swine flu, but human infections can and do happen. In 2009 a strain of swine flu called H1N1 infected many people around the world. The virus is contagious and can spread from human to human. Symptoms of swine flu in people are similar to the symptoms of regular human flu and include fever, cough, sore throat, body aches, headache, chills and fatigue. There are antiviral medicines you can take to prevent or treat swine flu. There is a vaccine available to protect against swine flu. You can help prevent the spread of germs that cause respiratory illnesses like influenza by - Covering your nose and mouth with a tissue when you cough or sneeze. Throw the tissue in the trash after you use it. - Washing your hands often with soap and water, especially after you cough or sneeze. You can also use alcohol-based hand cleaners. - Avoiding touching your eyes, nose or mouth. Germs spread this way. - Trying to avoid close contact with sick people. - Staying home from work or school if you are sick. Centers for Disease Control and Prevention",MPlusHealthTopics,H1N1 Flu (Swine Flu) +What is (are) Rickets ?,"Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she - Has dark skin - Spends too little time outside - Has on sunscreen all the time when out of doors - Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet - Is breastfed without receiving vitamin D supplements - Can't make or use vitamin D because of a medical disorder such as celiac disease In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States.",MPlusHealthTopics,Rickets +What is (are) Eye Diseases ?,"Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include - Refractive errors - Cataracts - clouded lenses - Glaucoma - a disorder caused by damage to the optic nerve - Retinal disorders - problems with the nerve layer at the back of the eye - Macular degeneration - a disease that destroys sharp, central vision - Diabetic eye problems - Conjunctivitis - an infection also known as pinkeye Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute",MPlusHealthTopics,Eye Diseases +What is (are) Fainting ?,"Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may ""white out"" or ""black out."" Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include - Heat or dehydration - Emotional distress - Standing up too quickly - Certain medicines - Drop in blood sugar - Heart problems When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened.",MPlusHealthTopics,Fainting +Do you have information about Kidney Transplantation,"Summary : A kidney transplant is an operation that places a healthy kidney in your body. The transplanted kidney takes over the work of the two kidneys that failed, so you no longer need dialysis. During a transplant, the surgeon places the new kidney in your lower abdomen and connects the artery and vein of the new kidney to your artery and vein. Often, the new kidney will start making urine as soon as your blood starts flowing through it. But sometimes it takes a few weeks to start working. Many transplanted kidneys come from donors who have died. Some come from a living family member. The wait for a new kidney can be long. If you have a transplant, you must take drugs for the rest of your life, to keep your body from rejecting the new kidney. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Kidney Transplantation +What is (are) Heart Failure ?,"Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes - Blood and fluid to back up into the lungs - The buildup of fluid in the feet, ankles and legs - called edema - Tiredness and shortness of breath Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Failure +What is (are) Muscular Dystrophy ?,"Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Muscular Dystrophy +What is (are) Kidney Cysts ?,"A cyst is a fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. Symptoms of PKD include - Pain in the back and lower sides - Headaches - Urinary tract infections - Blood in the urine Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Kidney Cysts +What is (are) Salmonella Infections ?,"Salmonella is the name of a group of bacteria. In the United States, it is a common cause of foodborne illness. Salmonella occurs in raw poultry, eggs, beef, and sometimes on unwashed fruit and vegetables. You also can get infected after handling pets, especially reptiles like snakes, turtles, and lizards. Symptoms include - Fever - Diarrhea - Abdominal cramps - Headache - Possible nausea, vomiting, and loss of appetite Symptoms usually last 4-7 days. Your health care provider diagnoses the infection with a stool test. Most people get better without treatment. Infection can be more serious in the elderly, infants, and people with chronic health problems. If Salmonella gets into the bloodstream, it can be serious. The usual treatment is antibiotics. Typhoid fever, a more serious disease caused by Salmonella, is not common in the United States. It frequently occurs in developing countries. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Salmonella Infections +What is (are) Atherosclerosis ?,"Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including - Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. - Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. - Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Atherosclerosis +What is (are) Drug Reactions ?,"Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions. One problem is interactions, which may occur between - Two drugs, such as aspirin and blood thinners - Drugs and food, such as statins and grapefruit - Drugs and supplements, such as gingko and blood thinners - Drugs and diseases, such as aspirin and peptic ulcers Interactions can change the actions of one or both drugs. The drugs might not work, or you could get side effects. Side effects are unwanted effects caused by the drugs. Most are mild, such as a stomach aches or drowsiness, and go away after you stop taking the drug. Others can be more serious. Drug allergies are another type of reaction. They can be mild or life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is more rare. When you start a new prescription or over-the-counter medication, make sure you understand how to take it correctly. Know which other medications and foods you need to avoid. Ask your health care provider or pharmacist if you have questions.",MPlusHealthTopics,Drug Reactions +What is (are) Chlamydia Infections ?,"Chlamydia is a common sexually transmitted disease caused by bacteria. You can get chlamydia during oral, vaginal, or anal sex with an infected partner. Both men and women can get it. Chlamydia usually doesn't cause symptoms. If it does, you might notice a burning feeling when you urinate or abnormal discharge from your vagina or penis. In both men and women, chlamydia can infect the urinary tract. In women, infection of the reproductive system can lead to pelvic inflammatory disease (PID). PID can cause infertility or serious problems with pregnancy. Babies born to infected mothers can get eye infections and pneumonia from chlamydia. In men, chlamydia can infect the epididymis, the tube that carries sperm. This can cause pain, fever, and, rarely, infertility. A lab test can tell if you have chlamydia. Antibiotics will cure the infection. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading chlamydia. Experts recommend that sexually active women 25 and younger get a chlamydia test every year. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Chlamydia Infections +Do you have information about Baby Health Checkup,"Summary : There are many new responsibilities when you have a baby. One of them is to make sure they get the checkups that they need. Well-baby exams are important in making sure that your baby is growing and developing properly. If there are problems, you can catch them early. This means that there is a better chance for treatment. During these checkups, your baby will get any needed immunizations and screenings. This is also a good chance to ask your health care provider any questions about how to care for your baby.",MPlusHealthTopics,Baby Health Checkup +What is (are) Amyotrophic Lateral Sclerosis ?,"Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems. Some people notice - Trouble walking or running - Trouble writing - Speech problems Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe. A breathing machine can help, but most people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Amyotrophic Lateral Sclerosis +What is (are) Pain ?,"Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.",MPlusHealthTopics,Pain +Do you have information about Heart Surgery,"Summary : Heart surgery can correct problems with the heart if other treatments haven't worked or can't be used. The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery. Doctors also use heart surgery to - Repair or replace heart valves, which control blood flow through the heart - Repair abnormal or damaged structures in the heart - Implant medical devices that help control the heartbeat or support heart function and blood flow - Replace a damaged heart with a healthy heart from a donor - Treat heart failure and coronary heart disease - Control abnormal heart rhythms Heart surgery has risks, even though its results often are excellent. Risks include bleeding, infection, irregular heartbeats, and stroke. The risk is higher if you are older or a woman. The risk is also higher if you have other diseases or conditions, such as diabetes, kidney disease, lung disease, or peripheral arterial disease. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Heart Surgery +What is (are) Hydrocephalus ?,"Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. Causes include genetic problems and problems with how the fetus develops. An unusually large head is the main sign of congenital hydrocephalus. Hydrocephalus can also happen after birth. This is called acquired hydrocephalus. It can occur at any age. Causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. Symptoms include - Headache - Vomiting and nausea - Blurry vision - Balance problems - Bladder control problems - Thinking and memory problems Hydrocephalus can permanently damage the brain, causing problems with physical and mental development. If untreated, it is usually fatal. With treatment, many people lead normal lives with few limitations. Treatment usually involves surgery to insert a shunt. A shunt is a flexible but sturdy plastic tube. The shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. Medicine and rehabilitation therapy can also help. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Hydrocephalus +What is (are) Abortion ?,"An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers advise counseling.",MPlusHealthTopics,Abortion +What is (are) Childhood Leukemia ?,"Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. Your blood cells form in your bone marrow. White blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. Leukemia can develop quickly or slowly. Acute leukemia is a fast growing type while chronic leukemia grows slowly. Children with leukemia usually have one of the acute types. Symptoms include - Infections - Fever - Loss of appetite - Tiredness - Easy bruising or bleeding - Swollen lymph nodes - Night sweats - Shortness of breath - Pain in the bones or joints Risk factors for childhood leukemia include having a brother or sister with leukemia, having certain genetic disorders and having had radiation or chemotherapy. Treatment often cures childhood leukemia. Treatment options include chemotherapy, other drug therapy and radiation. In some cases bone marrow and blood stem cell transplantation might help. NIH: National Cancer Institute",MPlusHealthTopics,Childhood Leukemia +What is (are) Balance Problems ?,"Have you ever felt dizzy, lightheaded, or as if the room is spinning around you? If the feeling happens often, it could be a sign of a balance problem. Balance problems can make you feel unsteady or as if you were moving, spinning, or floating. They are one cause of falls and fall-related injuries, such as hip fracture. Some balance problems are due to problems in the inner ear. Others may involve another part of the body, such as the brain or the heart. Aging, infections, head injury, certain medicines, or problems with blood circulation may result in a balance problem. If you are having balance problems, see your doctor. Balance disorders can be signs of other health problems, such as an ear infection or a stroke. In some cases, treating the illness that is causing the disorder will help with the balance problem. Exercises, a change in diet, and some medicines also can help. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Balance Problems +What is (are) Vasculitis ?,"Vasculitis is an inflammation of the blood vessels. It happens when the body's immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown. Vasculitis can affect arteries, veins and capillaries. Arteries are vessels that carry blood from the heart to the body's organs. Veins are the vessels that carry blood back to the heart. Capillaries are tiny blood vessels that connect the small arteries and veins. When a blood vessel becomes inflamed, it can - Narrow, making it more difficult for blood to get through - Close off completely so that blood can't get through - Stretch and weaken so much that it bulges. The bulge is called an aneurysm. If it bursts, it can cause dangerous bleeding inside the body. Symptoms of vasculitis can vary, but usually include fever, swelling and a general sense of feeling ill. The main goal of treatment is to stop the inflammation. Steroids and other medicines to stop inflammation are often helpful. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Vasculitis +What is (are) Male Breast Cancer ?,"Although breast cancer is much more common in women, men can get it too. It happens most often to men between the ages of 60 and 70. Breast lumps usually aren't cancer. However, most men with breast cancer have lumps. Other breast symptoms can include - Dimpled or puckered skin - A red, scaly nipple or skin - Fluid discharge Risk factors for male breast cancer include exposure to radiation, a family history of breast cancer, and having high estrogen levels, which can happen with diseases like cirrhosis or Klinefelter's syndrome. Treatment for male breast cancer is usually a mastectomy, which is surgery to remove the breast. Other treatments include radiation, chemotherapy and/or hormone therapy. NIH: National Cancer Institute",MPlusHealthTopics,Male Breast Cancer +What is (are) Pituitary Tumors ?,"Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the ""master control gland"" - it makes hormones that affect growth and the functions of other glands in the body. Pituitary tumors are common, but often they don't cause health problems. Most people with pituitary tumors never even know they have them. The most common type of pituitary tumor produces hormones and disrupts the balance of hormones in your body. This can cause endocrine diseases such as Cushing's syndrome and hyperthyroidism. Symptoms of pituitary tumors include - Headaches - Vision problems - Nausea and vomiting - Problems caused by the production of too many hormones Pituitary tumors are usually curable. Treatment is often surgery to remove the tumor. Other options include medicines, radiation therapy, and chemotherapy.",MPlusHealthTopics,Pituitary Tumors +Do you have information about African American Health,"Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans.",MPlusHealthTopics,African American Health +What is (are) Taste and Smell Disorders ?,"Our senses of taste and smell give us great pleasure. Taste helps us enjoy food and beverages. Smell lets us enjoy the scents and fragrances like roses or coffee. Taste and smell also protect us, letting us know when food has gone bad or when there is a gas leak. They make us want to eat, ensuring we get the nutrition we need. People with taste disorders may taste things that aren't there, may not be able to tell the difference in tastes, or can't taste at all. People with smell disorders may lose their sense of smell, or things may smell different. A smell they once enjoyed may now smell bad to them. Many illnesses and injuries can cause taste and smell disorders, including colds and head injuries. Some drugs can also affect taste and smell. Most people lose some ability to taste and smell as they get older. Treatment varies, depending on the problem and its cause. NIH: National Institute on Deafness and Other Communication Disorders",MPlusHealthTopics,Taste and Smell Disorders +Do you have information about Food Labeling,"Summary : Most packaged foods in the U.S. have food labels. On every food label you will see - Serving size, number of servings, and number of calories per serving - Information on the amount of dietary fat, cholesterol, dietary fiber, dietary sodium, carbohydrates, dietary proteins, vitamins, and minerals in each serving - Definitions for terms such as low-fat and high-fiber - Information to help you see how a food fits into an overall daily diet Food and Drug Administration",MPlusHealthTopics,Food Labeling +Do you have information about Hispanic American Health,"Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Hispanic Americans.",MPlusHealthTopics,Hispanic American Health +What is (are) Tinea Infections ?,"Tinea is the name of a group of diseases caused by a fungus. Types of tinea include ringworm, athlete's foot and jock itch. These infections are usually not serious, but they can be uncomfortable. You can get them by touching an infected person, from damp surfaces such as shower floors, or even from a pet. Symptoms depend on the affected area of the body: - Ringworm is a red skin rash that forms a ring around normal-looking skin. A worm doesn't cause it. - Scalp ringworm causes itchy, red patches on your head. It can leave bald spots. It usually affects children. - Athlete's foot causes itching, burning and cracked skin between your toes. - Jock itch causes an itchy, burning rash in your groin area. Over-the-counter creams and powders will get rid of many tinea infections, particularly athlete's foot and jock itch. Other cases require prescription medicine.",MPlusHealthTopics,Tinea Infections +What is (are) Carcinoid Tumors ?,"Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. In later stages the tumors sometimes produce hormones that can cause carcinoid syndrome. The syndrome causes flushing of the face and upper chest, diarrhea, and trouble breathing. Surgery is the main treatment for carcinoid tumors. If they haven't spread to other parts of the body, surgery can cure the cancer.",MPlusHealthTopics,Carcinoid Tumors +What is (are) Eye Injuries ?,"The structure of your face helps protect your eyes from injury. Still, injuries can damage your eye, sometimes severely enough that you could lose your vision. Most eye injuries are preventable. If you play sports or work in certain jobs, you may need protection. The most common type of injury happens when something irritates the outer surface of your eye. Certain jobs such as industrial jobs or hobbies such as carpentry make this type of injury more likely. It's also more likely if you wear contact lenses. Chemicals or heat can burn your eyes. With chemicals, the pain may cause you to close your eyes. This traps the irritant next to the eye and may cause more damage. You should wash out your eye right away while you wait for medical help.",MPlusHealthTopics,Eye Injuries +Do you have information about Calcium,"Summary : You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to help muscles and blood vessels contract and expand, to secrete hormones and enzymes and to send messages through the nervous system. It is important to get plenty of calcium in the foods you eat. Foods rich in calcium include - Dairy products such as milk, cheese, and yogurt - Leafy, green vegetables - Fish with soft bones that you eat, such as canned sardines and salmon - Calcium-enriched foods such as breakfast cereals, fruit juices, soy and rice drinks, and tofu. Check the product labels. The exact amount of calcium you need depends on your age and other factors. Growing children and teenagers need more calcium than young adults. Older women need plenty of calcium to prevent osteoporosis. People who do not eat enough high-calcium foods should take a calcium supplement. NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Calcium +Do you have information about Folic Acid,"Summary : Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. Getting enough folic acid before and during pregnancy can prevent major birth defects of her baby's brain or spine. Foods with folic acid in them include - Leafy green vegetables - Fruits - Dried beans, peas, and nuts - Enriched breads, cereals and other grain products If you don't get enough folic acid from the foods you eat, you can also take it as a dietary supplement. NIH: National Institutes of Health Office of Dietary Supplements",MPlusHealthTopics,Folic Acid +What is (are) Pneumocystis Infections ?,"Pneumocystis jirovec is a tiny fungus that lives in the lungs of many people. Most people's immune systems keep the fungus under control. But if your immune system is weak, the fungus can make you very sick. The most common problem of infection is pneumocystis pneumonia (PCP). PCP once was the major cause of death for people with HIV/AIDS. But now, it is possible to prevent or treat most cases. The key to surviving PCP is early treatment. The first signs of PCP are difficulty breathing, fever and a dry cough. If you have these symptoms, see your doctor right away.",MPlusHealthTopics,Pneumocystis Infections +Do you have information about Bone Grafts,"Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone. If the transplanted bone comes from another person, it is called an allograft. Most allograft bone comes from donors who have died. Tissue banks screen these donors and disinfect and test the donated bone to make sure it is safe to use. If the transplanted bone comes from another part of your own body, it is called an autograft. Autograft bone often comes from your ribs, hips or a leg.",MPlusHealthTopics,Bone Grafts +What is (are) Gaucher Disease ?,"Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types: - Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age. - Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2. - In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Gaucher Disease +Do you have information about Birth Weight,"Summary : Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds. A low birth weight baby can be born too small, too early (premature), or both. This can happen for many different reasons. They include health problems in the mother, genetic factors, problems with the placenta and substance abuse by the mother. Some low birth weight babies may be more at risk for certain health problems. Some may become sick in the first days of life or develop infections. Others may suffer from longer-term problems such as delayed motor and social development or learning disabilities. High birth weight babies are often big because the parents are big, or the mother has diabetes during pregnancy. These babies may be at a higher risk of birth injuries and problems with blood sugar. Centers for Disease Control and Prevention",MPlusHealthTopics,Birth Weight +What is (are) Drug Abuse ?,"Drug abuse is a serious public health problem that affects almost every community and family in some way. Each year drug abuse causes millions of serious illnesses or injuries among Americans. Abused drugs include - Methamphetamine - Anabolic steroids - Club drugs - Cocaine - Heroin - Inhalants - Marijuana - Prescription drugs Drug abuse also plays a role in many major social problems, such as drugged driving, violence, stress, and child abuse. Drug abuse can lead to homelessness, crime, and missed work or problems with keeping a job. It harms unborn babies and destroys families. There are different types of treatment for drug abuse. But the best is to prevent drug abuse in the first place. NIH: National Institute on Drug Abuse",MPlusHealthTopics,Drug Abuse +What is (are) Concussion ?,"A concussion is a type of brain injury. It's the most minor form. Technically, a concussion is a short loss of normal brain function in response to a head injury. But people often use it to describe any minor injury to the head or brain. Concussions are a common type of sports injury. You can also have one if you suffer a blow to the head or hit your head after a fall. Symptoms of a concussion may not start right away; they may start days or weeks after the injury. Symptoms may include a headache or neck pain. You may also have nausea, ringing in your ears, dizziness, or tiredness. You may feel dazed or not your normal self for several days or weeks after the injury. Consult your health care professional if any of your symptoms get worse, or if you have more serious symptoms such as - Seizures - Trouble walking or sleeping - Weakness, numbness, or decreased coordination - Repeated vomiting or nausea - Confusion - Slurred speech Doctors use a neurologic exam and imaging tests to diagnose a concussion. Most people recover fully after a concussion, but it can take some time. Rest is very important after a concussion because it helps the brain to heal. Centers for Disease Control and Prevention",MPlusHealthTopics,Concussion +What is (are) Diabetes Insipidus ?,"Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. The symptoms can be similar. However, DI is related to how your kidneys handle fluids. It's much less common than DM. Urine and blood tests can show which one you have. Usually, DI is caused by a problem with your pituitary gland or your kidneys. Treatment depends on the cause of the problem. Medicines can often help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Diabetes Insipidus +What is (are) Family Issues ?,"There are many kinds of families. Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the same address. They should be a source of love and support. This does not mean that everyone gets along all the time. Conflicts are a part of family life. Many things can lead to conflict, such as illness, disability, addiction, job loss, school problems, and marital issues. Listening to each other and working to resolve conflicts are important in strengthening the family.",MPlusHealthTopics,Family Issues +What is (are) Salivary Gland Disorders ?,"Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. Problems with salivary glands can cause the glands to become irritated and swollen. This causes symptoms such as - Bad taste in the mouth - Difficulty opening your mouth - Dry mouth - Pain in the face or mouth - Swelling of the face or neck Causes of salivary gland problems include infections, obstruction or cancer. Problems can also be due to other disorders, such as mumps or Sjogren's syndrome.",MPlusHealthTopics,Salivary Gland Disorders +Do you have information about Nuclear Scans,"Summary : Nuclear scans use radioactive substances to see structures and functions inside your body. They use a special camera that detects radioactivity. Before the test, you receive a small amount of radioactive material. You may get it as an injection. Sometimes you swallow it or inhale it. Then you lie still on a table while the camera makes images. Most scans take 20 to 45 minutes. Nuclear scans can help doctors diagnose many conditions, including cancers, injuries, and infections. They can also show how organs like your heart and lungs are working.",MPlusHealthTopics,Nuclear Scans +What is (are) Bone Infections ?,"Like other parts of the body, bones can get infected. The infections are usually bacterial, but can also be fungal. They may spread to the bone from nearby skin or muscles, or from another part of the body through the bloodstream. People who are at risk for bone infections include those with diabetes, poor circulation, or recent injury to the bone. You may also be at risk if you are having hemodialysis. Symptoms of bone infections include - Pain in the infected area - Chills and fever - Swelling, warmth, and redness A blood test or imaging test such as an x-ray can tell if you have a bone infection. Treatment includes antibiotics and often surgery.",MPlusHealthTopics,Bone Infections +What is (are) Heat Illness ?,"Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. Exercising too much for your age and physical condition are also factors. Older adults, young children and those who are sick or overweight are most at risk. Drinking fluids to prevent dehydration, replenishing salt and minerals, and limiting time in the heat can help. Heat-related illnesses include - Heatstroke - a life-threatening illness in which body temperature may rise above 106 F in minutes; symptoms include dry skin, rapid, strong pulse and dizziness - Heat exhaustion - an illness that can precede heatstroke; symptoms include heavy sweating, rapid breathing and a fast, weak pulse - Heat cramps - muscle pains or spasms that happen during heavy exercise - Heat rash - skin irritation from excessive sweating Centers for Disease Control and Prevention",MPlusHealthTopics,Heat Illness +What is (are) Rotavirus Infections ?,"Rotavirus is a virus that causes gastroenteritis. Symptoms include severe diarrhea, vomiting, fever, and dehydration. Almost all children in the U.S. are likely to be infected with rotavirus before their 5th birthday. Infections happen most often in the winter and spring. It is very easy for children with the virus to spread it to other children and sometimes to adults. Once a child gets the virus, it takes about two days to become sick. Vomiting and diarrhea may last from three to eight days. There is no medicine to treat it. To prevent dehydration, have your child drink plenty of liquids. Your health care provider may recommend oral rehydration drinks. Some children need to go to the hospital for IV fluids. Two vaccines against rotavirus infections are available. Centers for Disease Control and Prevention",MPlusHealthTopics,Rotavirus Infections +What is (are) Infertility ?,"Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development",MPlusHealthTopics,Infertility +What is (are) Insomnia ?,"Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up. Symptoms of insomnia include: - Lying awake for a long time before you fall asleep - Sleeping for only short periods - Being awake for much of the night - Feeling as if you haven't slept at all - Waking up too early Your doctor will diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. A sleep study measures how well you sleep and how your body responds to sleep problems. Treatments include lifestyle changes, counseling, and medicines. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Insomnia +Do you have information about Environmental Health,"Summary : Our environment affects our health. If parts of the environment, like the air, water, or soil become polluted, it can lead to health problems. For example, asthma pollutants and chemicals in the air or in the home can trigger asthma attacks. Some environmental risks are a part of the natural world, like radon in the soil. Others are the result of human activities, like lead poisoning from paint, or exposure to asbestos or mercury from mining or industrial use. NIH: National Institute of Environmental Health Sciences",MPlusHealthTopics,Environmental Health +What is (are) Bone Cancer ?,"Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. - Chondrosarcoma - starts in cartilage, usually after age 40 - Ewing's sarcoma - occurs most often in children and teens under 19. It is more common in boys than girls. The most common symptom of bone cancer is pain. Other symptoms vary, depending on the location and size of the cancer. Surgery is often the main treatment for bone cancer. Other treatments may include amputation, chemotherapy, and radiation therapy. Because bone cancer can come back after treatment, regular follow-up visits are important. NIH: National Cancer Institute",MPlusHealthTopics,Bone Cancer +What is (are) Melanoma ?,"Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or ""ugly looking."" Thinking of ""ABCDE"" can help you remember what to watch for: - Asymmetry - the shape of one half does not match the other - Border - the edges are ragged, blurred or irregular - Color - the color is uneven and may include shades of black, brown and tan - Diameter - there is a change in size, usually an increase - Evolving - the mole has changed over the past few weeks or months Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",MPlusHealthTopics,Melanoma +What is (are) Bird Flu ?,"Birds, just like people, get the flu. Bird flu viruses infect birds, including chickens, other poultry, and wild birds such as ducks. Most bird flu viruses can only infect other birds. However, bird flu can pose health risks to people. The first case of a bird flu virus infecting a person directly, H5N1, was in Hong Kong in 1997. Since then, the bird flu virus has spread to birds in countries in Asia, Africa, the Middle East, and Europe. Human infection is still very rare, but the virus that causes the infection in birds might change, or mutate, to more easily infect humans. This could lead to a pandemic, a worldwide outbreak of the illness. During an outbreak of bird flu, people who have contact with infected birds can become sick. It may also be possible to catch bird flu by eating poultry or eggs that are not well cooked or through contact with a person who has it. Bird flu can make people very sick or even cause death. Antiviral medicines may make the illness less severe, and may help prevent the flu in people who were exposed to it. There is currently no vaccine.",MPlusHealthTopics,Bird Flu +What is (are) Eye Cancer ?,"Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up of muscles, skin and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular cancers in adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in the cells of the retina. Cancer can also spread to the eye from other parts of the body. Treatment for eye cancer varies by the type and by how advanced it is. It may include surgery, radiation therapy, freezing or heat therapy, or laser therapy.",MPlusHealthTopics,Eye Cancer +Do you have information about Weight Loss Surgery,"Summary : Weight loss surgery helps people with extreme obesity to lose weight. It may be an option if you cannot lose weight through diet and exercise or have serious health problems caused by obesity. There are different types of weight loss surgery. They often limit the amount of food you can take in. Some types of surgery also affect how you digest food and absorb nutrients. All types have risks and complications, such as infections, hernias, and blood clots. Many people who have the surgery lose weight quickly, but regain some weight later on. If you follow diet and exercise recommendations, you can keep most of the weight off. You will also need medical follow-up for the rest of your life. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Weight Loss Surgery +What is (are) Histoplasmosis ?,"Histoplasmosis is a disease caused by a fungus (or mold) called Histoplasma. The fungus is common in the eastern and central United States. It grows in soil and material contaminated with bat or bird droppings. You get infected by breathing the fungal spores. You cannot get the infection from someone else. Histoplasmosis is often mild, with no symptoms. If you do get sick, it usually affects your lungs. Symptoms include feeling ill, fever, chest pains, and a dry cough. In severe cases, histoplasmosis spreads to other organs. This is called disseminated disease. It is more common in infants, young children, seniors, and people with immune system problems. Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, or examining blood, urine, or tissues for signs of the fungus. Mild cases usually get better without treatment. Treatment of severe or chronic cases is with antifungal drugs. Centers for Disease Control and Prevention",MPlusHealthTopics,Histoplasmosis +Do you have information about Drinking Water,"Summary : We all need to drink water. How much you need depends on your size, activity level, and the weather where you live. The water you drink is a combination of surface water and groundwater. Surface water includes rivers, lakes and reservoirs. Groundwater comes from underground. The United States has one of the safest water supplies in the world, but drinking water quality can vary from place to place. It depends on the condition of the source water and the treatment it receives. Treatment may include adding fluoride to prevent cavities and chlorine to kill germs. Your water supplier must give you annual reports on drinking water. The reports include where your water came from and what contaminants are in it. Centers for Disease Control and Prevention",MPlusHealthTopics,Drinking Water +What is (are) Thoracic Outlet Syndrome ?,"Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your neck are compressed, or squeezed. The compression can happen between the muscles of your neck and shoulder or between the first rib and collarbone. You may feel burning, tingling, and numbness along your arm, hand, and fingers. If a nerve is compressed, you may also feel weakness in your hand. If a vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm might swell and tire easily. TOS is more common in women. It usually starts between 20 and 50 years of age. Doctors do nerve and imaging studies to diagnose it. There are many causes of TOS, including - Injury - Anatomical defects - Tumors that press on nerves - Poor posture that causes nerve compression - Pregnancy - Repetitive arm and shoulder movements and activity, such as from playing certain sports Treatment depends on what caused your TOS. Medicines, physical therapy, and relaxation might help. Surgery may also be an option. Most people recover. NIH: National Institute of Neurological Disorders and Stroke",MPlusHealthTopics,Thoracic Outlet Syndrome +What is (are) Kidney Diseases ?,"Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include: - Cancer - Cysts - Stones - Infections Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Kidney Diseases +What is (are) Gonorrhea ?,"Gonorrhea is a sexually transmitted disease. It is most common in young adults. The bacteria that cause gonorrhea can infect the genital tract, mouth, or anus. You can get gonorrhea during vaginal, oral, or anal sex with an infected partner. A pregnant woman can pass it to her baby during childbirth. Gonorrhea does not always cause symptoms. In men, gonorrhea can cause pain when urinating and discharge from the penis. If untreated, it can cause problems with the prostate and testicles. In women, the early symptoms of gonorrhea often are mild. Later, it can cause bleeding between periods, pain when urinating, and increased discharge from the vagina. If untreated, it can lead to pelvic inflammatory disease, which causes problems with pregnancy and infertility. Your health care provider will diagnose gonorrhea with lab tests. Treatment is with antibiotics. Treating gonorrhea is becoming more difficult because drug-resistant strains are increasing. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading gonorrhea. NIH: National Institute of Allergy and Infectious Diseases",MPlusHealthTopics,Gonorrhea +Do you have information about Anabolic Steroids,"Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using them this way is not legal or safe. Abuse of anabolic steroids has been linked with many health problems. They include - Acne - Breast growth and shrinking of testicles in men - Voice deepening and growth of facial hair in women - High blood pressure - Heart problems, including heart attack - Liver disease, including cancer - Kidney damage - Aggressive behavior NIH: National Institute on Drug Abuse",MPlusHealthTopics,Anabolic Steroids +What is (are) Anemia ?,"If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include - Heavy periods - Pregnancy - Ulcers - Colon polyps or colon cancer - Inherited disorders - A diet that does not have enough iron, folic acid or vitamin B12 - Blood disorders such as sickle cell anemia and thalassemia, or cancer - Aplastic anemia, a condition that can be inherited or acquired - G6PD deficiency, a metabolic disorder Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute",MPlusHealthTopics,Anemia +What is (are) Gluten Sensitivity ?,"Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins, and supplements. People with gluten sensitivity have problems with gluten. It is different from celiac disease, an immune disease in which people can't eat gluten because it will damage their small intestine. Some of the symptoms of gluten sensitivity are similar to celiac disease. They include tiredness and stomachaches. It can cause other symptoms too, including muscle cramps and leg numbness. But it does not damage the small intestine like celiac disease. Researchers are still learning more about gluten sensitivity. If your health care provider thinks you have it, he or she may suggest that you stop eating gluten to see if your symptoms go away. However, you should first be tested to rule out celiac disease. Dept. of Health and Human Services Office on Women's Health",MPlusHealthTopics,Gluten Sensitivity +What is (are) Gastroenteritis ?,"Have you ever had the ""stomach flu?"" What you probably had was gastroenteritis - not a type of flu at all. Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites. Viral gastroenteritis is the second most common illness in the U.S. The cause is often a norovirus infection. It spreads through contaminated food or water, and contact with an infected person. The best prevention is frequent hand washing. Symptoms of gastroenteritis include diarrhea, abdominal pain, vomiting, headache, fever and chills. Most people recover with no treatment. The most common problem with gastroenteritis is dehydration. This happens if you do not drink enough fluids to replace what you lose through vomiting and diarrhea. Dehydration is most common in babies, young children, the elderly and people with weak immune systems. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",MPlusHealthTopics,Gastroenteritis +Do you have information about Orthodontia,"Summary : Some people have naturally straight teeth that fit together. But if you have problems with your bite or the spacing of your teeth, you may need orthodontic care. Orthodontia is the branch of dentistry that deals with abnormalities of the teeth and jaw. Orthodontic care involves the use of devices, such as braces, to - Straighten teeth - Correct problems with bite - Close gaps between teeth - Align lips and teeth properly Most people who receive orthodontic care are kids, but adults get braces, too. In young children, orthodontic treatment may guide proper jaw growth. This can help permanent teeth to come in properly. Straight permanent teeth can help prevent tooth problems later on.",MPlusHealthTopics,Orthodontia +What is (are) Meningococcal Infections ?,"Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis. Meningococcal infections can spread from person to person. Risk factors include - Age - it is more common in infants, teens, and young adults - Living in close quarters, such as in college dorms or military settings - Certain medical conditions, such as not having a spleen - Travel to areas where meningococcal disease is common In its early stages, you may have flu-like symptoms and a stiff neck. But the disease can progress quickly and can be fatal. Early diagnosis and treatment are extremely important. Lab tests on your blood and cerebrospinal fluid can tell if you have it. Treatment is with antibiotics. Since the infection spreads from person to person, family members may also need to be treated. A vaccine can prevent meningococcal infections.",MPlusHealthTopics,Meningococcal Infections +What are the symptoms of Malignant hyperthermia susceptibility type 3 ?,"What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Malignant hyperthermia susceptibility type 3 +What are the symptoms of Scheie syndrome ?,"What are the signs and symptoms of Scheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for Scheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aortic valve 90% Cerebral palsy 90% Decreased nerve conduction velocity 90% Glaucoma 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Coarse facial features 50% Hepatomegaly 50% Splenomegaly 50% Thick lower lip vermilion 50% Hemiplegia/hemiparesis 7.5% Hypertonia 7.5% Sensorineural hearing impairment 7.5% Sinusitis 7.5% Wide mouth 7.5% Retinal degeneration 5% Aortic regurgitation - Aortic valve stenosis - Autosomal recessive inheritance - Broad face - Corneal opacity - Depressed nasal bridge - Full cheeks - Genu valgum - Mandibular prognathia - Obstructive sleep apnea - Pes cavus - Short neck - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scheie syndrome +"What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ?","What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Advanced eruption of teeth 90% Decreased antibody level in blood 90% Malabsorption 90% Patent ductus arteriosus 90% Abnormality of the cardiac septa 50% Congenital diaphragmatic hernia 50% Natal tooth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Natal teeth, intestinal pseudoobstruction and patent ductus" +What is (are) Hereditary hemorrhagic telangiectasia ?,"Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other parts of the body, such as the brain, lungs, liver, or intestines. HHT is caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.",GARD,Hereditary hemorrhagic telangiectasia +What are the symptoms of Hereditary hemorrhagic telangiectasia ?,"What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Anemia - Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Brain abscess - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Clubbing - Cyanosis - Dyspnea - Fingerpad telangiectases - Gastrointestinal angiodysplasia - Gastrointestinal arteriovenous malformation - Gastrointestinal telangiectasia - Hematemesis - Hematochezia - Hepatic arteriovenous malformation - Heterogeneous - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Melena - Mesenteric artery aneurysm - Nail bed telangiectasia - Nasal mucosa telangiectasia - Palate telangiectasia - Polycythemia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary hemorrhagic telangiectasia +What are the treatments for Hereditary hemorrhagic telangiectasia ?,"Can hereditary hemorrhagic telangiectasia (HHT) be treated? Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur. Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs. Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities. Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy. Iron replacement and red blood cell transfusions are used to treat anemia. Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation. Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary. Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.",GARD,Hereditary hemorrhagic telangiectasia +What are the symptoms of Steatocystoma multiplex with natal teeth ?,"What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the skin 90% Hypermelanotic macule 50% Nephrolithiasis 50% Recurrent cutaneous abscess formation 50% Congenital, generalized hypertrichosis 7.5% Abnormality of the nail - Autosomal dominant inheritance - Natal tooth - Steatocystoma multiplex - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Steatocystoma multiplex with natal teeth +What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ?,"What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence +What are the symptoms of Neuhauser Daly Magnelli syndrome ?,"What are the signs and symptoms of Neuhauser Daly Magnelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Daly Magnelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuhauser Daly Magnelli syndrome +What is (are) Brooke-Spiegler syndrome ?,"Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.",GARD,Brooke-Spiegler syndrome +What are the symptoms of Brooke-Spiegler syndrome ?,"What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Milia - Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brooke-Spiegler syndrome +What is (are) Chorea-acanthocytosis ?,"Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.",GARD,Chorea-acanthocytosis +What are the symptoms of Chorea-acanthocytosis ?,"What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak. Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Chorea-acanthocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Incoordination 90% Muscular hypotonia 90% Neurological speech impairment 90% Pallor 90% Peripheral neuropathy 90% Abnormality of coagulation 50% Abnormality of the oral cavity 50% Abnormality of urine homeostasis 50% Attention deficit hyperactivity disorder 50% Cerebral cortical atrophy 50% Chorea 50% Developmental regression 50% EMG abnormality 50% Gait disturbance 50% Memory impairment 50% Myopathy 50% Seizures 50% Skeletal muscle atrophy 50% Tremor 50% Ventriculomegaly 50% Abdominal pain 7.5% Abnormality of the thyroid gland 7.5% Acute hepatic failure 7.5% Ascites 7.5% Cataract 7.5% Dementia 7.5% Elevated hepatic transaminases 7.5% Hepatomegaly 7.5% Hypertrophic cardiomyopathy 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Nystagmus 7.5% Recurrent respiratory infections 7.5% Self-injurious behavior 7.5% Short stature 7.5% Sleep disturbance 7.5% Splenomegaly 7.5% Vasculitis 7.5% Weight loss 7.5% Acanthocytosis - Aggressive behavior - Anxiety - Areflexia - Autosomal recessive inheritance - Caudate atrophy - Disinhibition - Drooling - Dysarthria - Dysphagia - Dystonia - Elevated serum creatine phosphokinase - Hyporeflexia - Limb muscle weakness - Mood changes - Orofacial dyskinesia - Parkinsonism - Personality changes - Pes cavus - Progressive - Progressive choreoathetosis - Psychosis - Self-mutilation of tongue and lips due to involuntary movements - Sensory neuropathy - Tics - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chorea-acanthocytosis +Is Chorea-acanthocytosis inherited ?,"How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Chorea-acanthocytosis +What are the treatments for Chorea-acanthocytosis ?,"How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.",GARD,Chorea-acanthocytosis +What are the symptoms of CODAS syndrome ?,"What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CODAS syndrome +What are the symptoms of Accessory deep peroneal nerve ?,"What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Accessory deep peroneal nerve +What is (are) Mowat-Wilson syndrome ?,"Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.",GARD,Mowat-Wilson syndrome +What are the symptoms of Mowat-Wilson syndrome ?,"What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 100% Abnormality of the eyebrow 90% Cognitive impairment 90% Deeply set eye 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Large earlobe 90% Microcephaly 90% Seizures 90% Aganglionic megacolon 62% Aplasia/Hypoplasia of the corpus callosum 50% Broad columella 50% Constipation 50% Cryptorchidism 50% Cupped ear 50% Displacement of the external urethral meatus 50% Epicanthus 50% Esotropia 50% Fine hair 50% Hypertelorism 50% Iris coloboma 50% Low hanging columella 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Open mouth 50% Pointed chin 50% Prominent nasal tip 50% Ptosis 50% Short stature 50% Tapered finger 50% Uplifted earlobe 50% Wide nasal bridge 50% Agenesis of corpus callosum 42% Bifid scrotum 33% Generalized muscle hypertrophy 33% Hypospadias 33% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Camptodactyly of finger 7.5% Cerebral cortical atrophy 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Deep plantar creases 7.5% Finger syndactyly 7.5% Hallux valgus 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Strabismus 7.5% Submucous cleft hard palate 7.5% Supernumerary nipple 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Abdominal distention - Abnormality of metabolism/homeostasis - Abnormality of the abdominal wall - Abnormality of the rib cage - Absent speech - Atria septal defect - Autosomal dominant inheritance - Broad eyebrow - Delayed eruption of teeth - Drooling - Happy demeanor - Hypoplasia of the corpus callosum - Intellectual disability, moderate - Motor delay - Pectus carinatum - Pectus excavatum - Pulmonary artery sling - Pulmonary artery stenosis - Pulmonic stenosis - Vomiting - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mowat-Wilson syndrome +What causes Mowat-Wilson syndrome ?,"What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.",GARD,Mowat-Wilson syndrome +Is Mowat-Wilson syndrome inherited ?,"How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GARD,Mowat-Wilson syndrome +What are the symptoms of Oculodentoosseous dysplasia recessive ?,"What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 2-4 toe cutaneous syndactyly - 4-5 finger syndactyly - Abnormality of dental enamel - Abnormality of dental morphology - Autosomal recessive inheritance - Brachycephaly - Broad long bones - Cataract - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Dental malocclusion - Failure to thrive - Fifth finger distal phalanx clinodactyly - Frontal bossing - Hypoplasia of teeth - Hypoplasia of the maxilla - Large earlobe - Long nose - Long philtrum - Low-set ears - Macrodontia of permanent maxillary central incisor - Microcornea - Microphthalmia - Myopia - Narrow mouth - Narrow nose - Persistent pupillary membrane - Prominent epicanthal folds - Short foot - Short palpebral fissure - Short stature - Small hand - Sparse eyelashes - Telecanthus - Thin vermilion border - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculodentoosseous dysplasia recessive +What are the symptoms of Potato nose ?,"What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Potato nose +What are the symptoms of Mental retardation Smith Fineman Myers type ?,"What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mental retardation Smith Fineman Myers type +What is (are) Birt-Hogg-Dube syndrome ?,"Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.",GARD,Birt-Hogg-Dube syndrome +What are the symptoms of Birt-Hogg-Dube syndrome ?,"What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Birt-Hogg-Dube syndrome +What are the treatments for Birt-Hogg-Dube syndrome ?,"How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality. The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan. Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions. It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).",GARD,Birt-Hogg-Dube syndrome +What is (are) Blue rubber bleb nevus syndrome ?,"Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.",GARD,Blue rubber bleb nevus syndrome +What are the symptoms of Blue rubber bleb nevus syndrome ?,"What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age. Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. The Human Phenotype Ontology provides the following list of signs and symptoms for Blue rubber bleb nevus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Arteriovenous malformation 90% Bone pain 90% Cavernous hemangioma 90% Skin rash 90% Visceral angiomatosis 90% Gastrointestinal hemorrhage 50% Intestinal malrotation 50% Gastrointestinal infarctions 7.5% Microcytic anemia 7.5% Abnormality of the liver - Abnormality of the mouth - Abnormality of the respiratory system - Autosomal dominant inheritance - Cerebellar medulloblastoma - Chronic disseminated intravascular coagulation - Hemangioma - Hypermelanotic macule - Intestinal bleeding - Intussusception - Iron deficiency anemia - Pathologic fracture - Rectal prolapse - Thrombocytopenia - Volvulus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Blue rubber bleb nevus syndrome +What causes Blue rubber bleb nevus syndrome ?,What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known.,GARD,Blue rubber bleb nevus syndrome +What are the treatments for Blue rubber bleb nevus syndrome ?,"How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).",GARD,Blue rubber bleb nevus syndrome +What are the symptoms of Histidinemia ?,"What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 5% Neurological speech impairment 5% Intellectual disability 1% Autosomal recessive inheritance - Histidinuria - Hyperhistidinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Histidinemia +What is (are) Klumpke paralysis ?,"Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia,), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.",GARD,Klumpke paralysis +What are the treatments for Klumpke paralysis ?,"How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better",GARD,Klumpke paralysis +What is (are) Optic atrophy 1 ?,"Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible.",GARD,Optic atrophy 1 +What are the symptoms of Optic atrophy 1 ?,"What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Strabismus 10% Horizontal nystagmus 5% Progressive external ophthalmoplegia 48/104 Proximal muscle weakness 37/104 Ataxia 31/104 Abnormal amplitude of pattern reversal visual evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Incomplete penetrance - Insidious onset - Optic atrophy - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy 1 +What is (are) MYH-associated polyposis ?,"MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene.",GARD,MYH-associated polyposis +What are the symptoms of MYH-associated polyposis ?,"What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,MYH-associated polyposis +What causes MYH-associated polyposis ?,"What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.",GARD,MYH-associated polyposis +What are the symptoms of Crome syndrome ?,"What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Encephalitis 90% Seizures 90% Nystagmus 50% Acute tubular necrosis - Autosomal recessive inheritance - Cerebellar dysplasia - Congenital cataract - Encephalopathy - Intellectual disability - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Crome syndrome +What are the symptoms of Auriculo-condylar syndrome ?,"What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Narrow mouth 52% Glossoptosis 46% Stenosis of the external auditory canal 30% Anterior open-bite malocclusion - Apnea - Autosomal dominant inheritance - Chewing difficulties - Cleft at the superior portion of the pinna - Cleft palate - Cupped ear - Dental crowding - Dental malocclusion - Hypoplastic superior helix - Low-set ears - Macrocephaly - Mandibular condyle aplasia - Mandibular condyle hypoplasia - Overfolding of the superior helices - Postauricular skin tag - Posteriorly rotated ears - Preauricular skin tag - Round face - Speech articulation difficulties - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Auriculo-condylar syndrome +"What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ?","What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent scaphoid - Absent trapezium - Absent trapezoid bone - Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Cone-shaped epiphyses of the middle phalanges of the hand - Distal symphalangism (feet) - Distal symphalangism (hands) - Microdontia - Pulp stones - Short distal phalanx of finger - Short middle phalanx of finger - Short phalanx of finger - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" +What is (are) Warm antibody hemolytic anemia ?,"Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing, jaundice and dark urine. In severe disease, fever, chest pain, syncope or heart failure may occur. Hemolysis (the breakdown of red blood cells) occurs mainly in the spleen, so mild splenomegaly is relatively common. Treatment typically involves a corticosteroid like prednisone. In cases that don't respond to treatment, splenectomy may be considered. Chronic and severe disease may be treated with Rituximab or immunosuppressive medications.",GARD,Warm antibody hemolytic anemia +What are the symptoms of Warm antibody hemolytic anemia ?,"What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Autoimmunity 90% Migraine 90% Pallor 90% Arthralgia 50% Hematological neoplasm 50% Skin rash 50% Abnormality of temperature regulation 7.5% Abnormality of the liver 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Warm antibody hemolytic anemia +What are the symptoms of Snowflake vitreoretinal degeneration ?,"What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Vitreoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Snowflake vitreoretinal degeneration +What are the symptoms of Hypomagnesemia 6 ?,"What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Headache - Hypomagnesemia - Muscle weakness - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypomagnesemia 6 +What is (are) Scleroderma ?,"Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.",GARD,Scleroderma +What are the symptoms of Scleroderma ?,"What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the stomach 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Cheilitis 90% Chest pain 90% Dry skin 90% Gangrene 90% Gingivitis 90% Lack of skin elasticity 90% Muscle weakness 90% Myalgia 90% Nausea and vomiting 90% Restrictive lung disease 90% Skin ulcer 90% Xerostomia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormal tendon morphology 50% Abnormality of the pericardium 50% Arrhythmia 50% Bowel incontinence 50% Chondrocalcinosis 50% Coronary artery disease 50% Cranial nerve paralysis 50% Decreased nerve conduction velocity 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Hypopigmented skin patches 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Nephropathy 50% Pulmonary fibrosis 50% Recurrent urinary tract infections 50% Telangiectasia of the skin 50% Urticaria 50% Weight loss 50% Behavioral abnormality 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Erectile abnormalities 7.5% Gastrointestinal hemorrhage 7.5% Gingival bleeding 7.5% Hematuria 7.5% Hypertrophic cardiomyopathy 7.5% Memory impairment 7.5% Narrow mouth 7.5% Neoplasm of the lung 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Renal insufficiency 7.5% Seizures 7.5% Skeletal muscle atrophy 7.5% Tracheoesophageal fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scleroderma +What are the treatments for Scleroderma ?,"How might scleroderma be treated? Currently, there is not a cure for scleroderma, however treatments are available to relieve symptoms and limit damage. Treatment will vary depending on your symptoms.",GARD,Scleroderma +What are the symptoms of Spastic paraplegia facial cutaneous lesions ?,"What are the signs and symptoms of Spastic paraplegia facial cutaneous lesions? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia facial cutaneous lesions. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EEG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Neurological speech impairment 90% Urticaria 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia facial cutaneous lesions +What are the symptoms of Ellis Yale Winter syndrome ?,"What are the signs and symptoms of Ellis Yale Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis Yale Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lung lobation 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Ventricular septal defect 90% Abnormality of periauricular region 50% Abnormality of the aorta 50% Abnormality of the nipple 50% Blepharophimosis 50% Cleft palate 50% Limitation of joint mobility 50% Muscular hypotonia 50% Renal hypoplasia/aplasia 50% Short distal phalanx of finger 50% Short neck 50% Single transverse palmar crease 50% Talipes 50% Underdeveloped nasal alae 50% Webbed neck 50% Abnormality of the respiratory system - Autosomal recessive inheritance - Hydranencephaly - Preauricular pit - Truncus arteriosus - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ellis Yale Winter syndrome +What is (are) CHILD syndrome ?,"CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.",GARD,CHILD syndrome +What are the symptoms of CHILD syndrome ?,"What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital ichthyosiform erythroderma 100% Stillbirth 99% Abnormality of bone mineral density 90% Abnormality of the ribs 90% Abnormality of the thyroid gland 90% Amniotic constriction ring 90% Aplasia of the pectoralis major muscle 90% Aplasia/hypoplasia of the extremities 90% Asymmetric growth 90% Atria septal defect 90% Cognitive impairment 90% Epiphyseal stippling 90% Flexion contracture 90% Hypoplastic left heart 90% Ichthyosis 90% Skin rash 90% Sprengel anomaly 90% Thin skin 90% Upper limb phocomelia 90% Abnormality of the nail 75% Hyperkeratosis 75% Parakeratosis 75% Cerebral cortical atrophy 50% Abnormality of cardiovascular system morphology 7.5% Abnormality of epiphysis morphology 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the fingernails 7.5% Abnormality of the heart valves 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the lungs 7.5% Arteriovenous malformation 7.5% Cleft palate 7.5% Congenital hip dislocation 7.5% Dry skin 7.5% Elevated 8(9)-cholestenol 7.5% Elevated 8-dehydrocholesterol 7.5% Hearing impairment 7.5% Hypoplastic pelvis 7.5% Hypoplastic scapulae 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Myelomeningocele 7.5% Polycystic ovaries 7.5% Pulmonary hypoplasia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short clavicles 7.5% Short ribs 7.5% Short stature 7.5% Ventricular septal defect 7.5% Vertebral hypoplasia 7.5% Adrenal hypoplasia 5% Aplasia/Hypoplasia involving the central nervous system 5% Thyroid hypoplasia 5% Abnormality of the cardiac septa - Cleft upper lip - Heterogeneous - Hydronephrosis - Intellectual disability, mild - Mild intrauterine growth retardation - Single ventricle - Umbilical hernia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CHILD syndrome +What is (are) Amniotic band syndrome ?,"Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. When this happens the baby is said to have amniotic band syndrome. Amniotic bands are thought to happen sporadically or in association with trauma to the abdomen. It can be a complication after an amniocentesis and/or it can indicate early rupture of the amniotic sac.",GARD,Amniotic band syndrome +What are the symptoms of Amniotic band syndrome ?,"What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care. When the bands affect the limbs, the lower part of the limbs are most often involved, especially the middle, long, and index fingers of the hand. When the feet are involved, the bands most commonly affect the big toe. Pressure from the bands may result in additional abnormalities, such as underdevelopment of a limb, bone abnormalities, amputations, leg-length discrepancy, and club feet. Constriction bands across the head and face may lead to facial clefts. Severe clefts affecting vital organs are often life-threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Amniotic band syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Split hand 90% Talipes 90% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the radius 50% Lymphedema 50% Oligohydramnios 50% Scoliosis 50% Abnormal lung lobation - Abnormality of the rib cage - Bladder exstrophy - Cleft eyelid - Cleft palate - Cleft upper lip - Ectopia cordis - Encephalocele - Facial cleft - Gastroschisis - Hand polydactyly - Omphalocele - Sporadic - Syndactyly - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amniotic band syndrome +What causes Amniotic band syndrome ?,What causes amniotic bands? Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby.,GARD,Amniotic band syndrome +How to diagnose Amniotic band syndrome ?,"How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more often diagnosed by the results of the fusion, such as missing or deformed limbs.",GARD,Amniotic band syndrome +What are the treatments for Amniotic band syndrome ?,"How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic band syndrome who have amputations may benefit from the use of prosthetics.",GARD,Amniotic band syndrome +What is (are) Sudden infant death syndrome ?,"Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendations for risk reduction. Please click on the link to access this resource.",GARD,Sudden infant death syndrome +What are the symptoms of Sudden infant death syndrome ?,"What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apneic episodes in infancy - Sudden death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sudden infant death syndrome +What is (are) Klebsiella infection ?,"Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections. In healthcare settings, people who require long courses of antibiotics and/or devices such as ventilators (breathing machines) or intravenous (vein) catheters are at the most risk for Klebsiella infections. These infections are often treated with antibiotics, although some Klebsiella bacteria may be resistant to certain types of antibiotics.",GARD,Klebsiella infection +What are the symptoms of Klebsiella infection ?,"What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in severe cases. Early signs and symptoms of this condition include: High fevers Chills Flu-like symptoms Cough with yellow and/or bloody mucus Shortness of breath Other common Klebsiella infections include bloodstream infections; wound or surgical site infections; and meningitis.",GARD,Klebsiella infection +What causes Klebsiella infection ?,"What causes Klebsiella infections? Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria. These bacteria are usually found in human intestines where they do not cause infections. To get a Klebsiella infection, a person must be exposed to the bacteria. For example, Klebsiella must enter the respiratory (breathing) tract to cause pneumonia, or the blood to cause a bloodstream infection. Most healthy people do not get Klebsiella infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections. Klebsiella bacteria are usually spread through person-to-person contact. In healthcare settings, people who require long courses of antibiotics and and people whose care requires the use of ventilators (breathing machines) or intravenous (vein) catheters are more at risk for Klebsiella infections. How are Klebsiella bacteria spread? To get a Klebsiella infection, a person must be exposed to the bacteria. For example, Klebsiella must enter the respiratory (breathing) tract to cause pneumonia or the blood to cause a bloodstream infection. In healthcare settings, Klebsiella bacteria can be spread through person-to-person contact or, less commonly, by contamination of the environment. It is not spread through the air. Patients in healthcare settings also may be exposed to Klebsiella when they are on ventilators (breathing machines), or have intravenous (vein) catheters or wounds (caused by injury or surgery). To prevent spreading Klebsiella infections between patients, healthcare personnel must follow specific infection control precautions. These precautions may include frequent hand washing and wearing gowns and gloves when entering the rooms of patients with Klebsiellarelated illnesses. Healthcare facilities should also follow strict cleaning procedures to prevent the spread of Klebsiella. If family members are healthy, they are at very low risk of acquiring a Klebsiella infection. It is still necessary to follow all precautions, particularly hand hygiene. Klebsiella bacteria are spread mostly by person-to-person contact and hand washing is the best way to prevent the spread of germs.",GARD,Klebsiella infection +How to diagnose Klebsiella infection ?,"How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebsiella infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of Klebsiella bacteria.",GARD,Klebsiella infection +What are the treatments for Klebsiella infection ?,"How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibility testing) to determine which antibiotics may be used to treat the Klebsiella infection. If the healthcare provider prescribes an antibiotic, it is important to take the medication exactly as instructed and to continue taking the prescribed course, even if symptoms are gone. If treatment stops too soon, some bacteria may survive and the person may become re-infected.",GARD,Klebsiella infection +What are the symptoms of Glaucoma 3 primary infantile B ?,"What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Primary congenital glaucoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glaucoma 3 primary infantile B +"What are the symptoms of Ulna and fibula, hypoplasia of ?","What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Ulnar deviation of finger 90% Synostosis of carpal bones 50% Myopia 7.5% Strabismus 7.5% Autosomal dominant inheritance - Fibular hypoplasia - Hypoplasia of the ulna - Neonatal short-limb short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ulna and fibula, hypoplasia of" +What is (are) Leri Weill dyschondrosteosis ?,"Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.",GARD,Leri Weill dyschondrosteosis +What are the symptoms of Leri Weill dyschondrosteosis ?,"What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humeroulnar joint 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Arthralgia 90% Bone pain 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Depressed nasal bridge 90% Exostoses 90% Genu varum 90% Limitation of joint mobility 90% Madelung deformity 90% Micromelia 90% Patellar aplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Elbow dislocation 50% Genu valgum 50% Osteoarthritis 50% Scoliosis 50% Nephropathy 7.5% Abnormality of the carpal bones - Abnormality of the metatarsal bones - Autosomal dominant inheritance - Coxa valga - Disproportionate short-limb short stature - Dorsal subluxation of ulna - Fibular hypoplasia - High palate - Hypoplasia of the radius - Hypoplasia of the ulna - Increased carrying angle - Limited elbow movement - Limited wrist movement - Mesomelia - Multiple exostoses - Radial bowing - Short 4th metacarpal - Short tibia - Short toe - Skeletal muscle hypertrophy - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leri Weill dyschondrosteosis +What are the symptoms of Dextrocardia with unusual facies and microphthalmia ?,"What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Anophthalmia - Autosomal recessive inheritance - Choreoathetosis - Cleft palate - Dextrocardia - Intellectual disability - Macrotia - Microphthalmia - Prominent nose - Sloping forehead - Supernumerary ribs - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dextrocardia with unusual facies and microphthalmia +What is (are) 3-Hydroxyisobutyric aciduria ?,"3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying cause is not well understood; however, researchers believe some cases are caused by changes (mutations) in the ALDH6A1 gene and inherited in an autosomal recessive manner. Because it is so rare, there is limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success.",GARD,3-Hydroxyisobutyric aciduria +What are the symptoms of 3-Hydroxyisobutyric aciduria ?,"What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly) Congenital brain abnormalities Nausea Diarrhea Dehydration Lethargy The severity of the condition can also vary significantly from person to person. Some affected people may only experience mild attacks of vomiting with normal development, while others experience failure to thrive with severe intellectual disability and early death. The Human Phenotype Ontology provides the following list of signs and symptoms for 3-Hydroxyisobutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Abnormality of the outer ear 50% Long philtrum 50% Triangular face 50% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Intrauterine growth retardation 7.5% Microcephaly 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of neuronal migration - Autosomal recessive inheritance - Congenital intracerebral calcification - Episodic ketoacidosis - Failure to thrive - Lactic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,3-Hydroxyisobutyric aciduria +What causes 3-Hydroxyisobutyric aciduria ?,"What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria.",GARD,3-Hydroxyisobutyric aciduria +Is 3-Hydroxyisobutyric aciduria inherited ?,"Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,3-Hydroxyisobutyric aciduria +What are the treatments for 3-Hydroxyisobutyric aciduria ?,"How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.",GARD,3-Hydroxyisobutyric aciduria +What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ?,"What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Delayed eruption of teeth 90% Depressed nasal ridge 90% Hypohidrosis 90% Microdontia 90% Frontal bossing 50% Anterior hypopituitarism 7.5% Hypertension 7.5% Short distal phalanx of finger 7.5% Type I diabetes mellitus 7.5% Abnormality of oral mucosa - Absent eyebrow - Absent nipple - Anhidrosis - Aplasia/Hypoplastia of the eccrine sweat glands - Brittle hair - Concave nail - Conical tooth - Depressed nasal bridge - Dry skin - Dysphonia - Eczema - Everted upper lip vermilion - Fever - Heat intolerance - Heterogeneous - Hoarse voice - Hypodontia - Hypohidrotic ectodermal dysplasia - Hypoplasia of the maxilla - Hypoplastic nipples - Hypoplastic-absent sebaceous glands - Hypotrichosis - Periorbital hyperpigmentation - Periorbital wrinkles - Prominent supraorbital ridges - Respiratory difficulties - Short chin - Short nose - Soft skin - Sparse eyebrow - Sparse eyelashes - Taurodontia - Thick vermilion border - Thin skin - Underdeveloped nasal alae - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked hypohidrotic ectodermal dysplasia +What is (are) Glutaric acidemia type III ?,"Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients.",GARD,Glutaric acidemia type III +What are the symptoms of Glutaric acidemia type III ?,"What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glutaric acidemia type III +What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ?,"What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cerebral cortical atrophy 90% Hyperkeratosis 90% Microcephaly 90% Short stature 90% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Absent eyebrow - Absent eyelashes - Cerebral atrophy - Death in childhood - Generalized keratosis follicularis - Severe short stature - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratosis follicularis dwarfism and cerebral atrophy +What is (are) Bell's palsy ?,"Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used.",GARD,Bell's palsy +What are the symptoms of Bell's palsy ?,What are the symptoms of Bell's palsy?,GARD,Bell's palsy +What causes Bell's palsy ?,What causes Bell's palsy?,GARD,Bell's palsy +What are the treatments for Bell's palsy ?,How might Bell's palsy be treated?,GARD,Bell's palsy +What is (are) Factor V Leiden thrombophilia ?,"Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or two copies of the factor V Leiden gene mutation. Those who inherit one copy are called heterozygotes. People who inherit two copies of the mutation, one from each parent, are called homozygotes. Having the factor V Leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (DVT). It also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (PE).",GARD,Factor V Leiden thrombophilia +What are the symptoms of Factor V Leiden thrombophilia ?,"What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Although most individuals with factor V thrombophilia do not experience their first thrombotic event until adulthood, some have recurrent thromboembolism before age 30 years. The chance a person will develop a blood clot is affected by the number of factor V Leiden mutations, the presence of coexisting genetic abnormalities, and non-genetic risk factors. Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female hormones, childbirth within the last 6 months, and traumas or fractures. Individuals who inherit one copy of the factor V Leiden mutation have a fourfold to eightfold increase in the chance of developing a clot. Homozygotes (people who inherit two factor V Leiden mutations) may have up to 80 times the usual risk of developing a blood clot. Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to 4 to 8 in 1,000, and having two copies of the mutation may raise the risk as high as 80 in 1,000. People with factor V Leiden have an increased chance of having a blood clot that forms in large veins in the legs (deep venous thrombosis, or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Symptoms of deep vein thrombosis usually include leg pain, tenderness, swelling, increased warmth or redness in one leg. The symptoms of pulmonary embolism usually include cough, chest pain, shortness of breath or rapid heartbeat or breathing. To learn more about the symptoms of DVT and PE, click here.",GARD,Factor V Leiden thrombophilia +What causes Factor V Leiden thrombophilia ?,What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.,GARD,Factor V Leiden thrombophilia +Is Factor V Leiden thrombophilia inherited ?,"How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.",GARD,Factor V Leiden thrombophilia +How to diagnose Factor V Leiden thrombophilia ?,"How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition. The APC (activated protein C) resistance assay, a coagulation screening test, measures the anticoagulant response to APC. This screening test has a sensitivity and specificity for factor V Leiden approaching 100%. The sensitivity of a test is a measure of the test's ability to detect a positive result when someone has the condition, while the specificity is a measure of the test's ability to identify negative results.Targeted mutation analysis (a type of DNA test) of the F5 gene for the Leiden mutation is considered definitive and has a mutation detection frequency of approximately 100%. This means that approximately all individuals who have the factor V Leiden mutation will be detected by this genetic test. It is generally recommended that individuals who test positive by another means should then have the DNA test both for confirmation and to distinguish heterozygotes (individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).",GARD,Factor V Leiden thrombophilia +What are the treatments for Factor V Leiden thrombophilia ?,"How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin and warfarin are given for varying amounts of time depending on the person's situation. It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if they have had only one DVT or PE, unless there are additional risk factors present. Having had a DVT or PE in the past increases a person's risk for developing another one in the future, but having factor V Leiden does not seem to add to the risk of having a second clot. In general, individuals who have factor V Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Rather, these individuals are counseled about reducing or eliminating other factors that may add to one's risk of developing a clot in the future. In addition, these individuals may require temporary treatment with an anticoagulant during periods of particularly high risk, such as major surgery. Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or hematologist. Most women with factor V Leiden have normal pregnancies and only require close follow-up during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a subsequent pregnancy can prevent recurrent problems.",GARD,Factor V Leiden thrombophilia +What is (are) Mucopolysaccharidosis type I ?,"Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.",GARD,Mucopolysaccharidosis type I +What are the symptoms of Mucopolysaccharidosis type I ?,"What are the signs and symptoms of Mucopolysaccharidosis type I? The signs and symptoms of MPS I are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. The following list includes the most common signs and symptoms of MPS I. Enlarged head, lips, cheeks, tongue, and nose Enlarged vocal cords, resulting in a deep voice Frequent upper respiratory infections Sleep apnea Hydrocephalus Hepatosplenomegaly (enlarged liver and spleen) Umbilical hernia Inguinal hernia Hearing loss Recurrent ear infections Corneal clouding Carpal tunnel syndrome Narrowing of the spinal canal (spinal stenosis) Heart valve abnormalities, which can lead to heart failure Short stature Joint deformities (contractures) Dysostosis multiplex (generalized thickening of most long bones, particularly the ribs) The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the heart valves 90% Abnormality of the metaphyses 90% Abnormality of the tonsils 90% Abnormality of the voice 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Hernia of the abdominal wall 90% Hypertrichosis 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Scoliosis 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal nasal morphology 50% Abnormal pyramidal signs 50% Abnormality of the hip bone 50% Abnormality of the nasal alae 50% Apnea 50% Arthralgia 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% Depressed nasal bridge 50% Developmental regression 50% Dolichocephaly 50% Enlarged thorax 50% Full cheeks 50% Gingival overgrowth 50% Glaucoma 50% Low anterior hairline 50% Macrocephaly 50% Malabsorption 50% Microdontia 50% Paresthesia 50% Recurrent respiratory infections 50% Retinopathy 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Thick lower lip vermilion 50% Abnormal tendon morphology 7.5% Abnormality of the aortic valve 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hemiplegia/hemiparesis 7.5% Hydrocephalus 7.5% Hypertrophic cardiomyopathy 7.5% Joint dislocation 7.5% Optic atrophy 7.5% Visual impairment 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Thick vermilion border - Tracheal stenosis - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type I +What causes Mucopolysaccharidosis type I ?,"What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder.",GARD,Mucopolysaccharidosis type I +Is Mucopolysaccharidosis type I inherited ?,How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern.,GARD,Mucopolysaccharidosis type I +What are the treatments for Mucopolysaccharidosis type I ?,"What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier. A bone marrow transplant is another treatment option that provides the person with MPS I with cells that can produce the IDUA enyzme. A bone marrow transplant can stop the progression of neurological problems.",GARD,Mucopolysaccharidosis type I +What is (are) Nablus mask-like facial syndrome ?,Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual dentition; mild developmental delay; undescended testicles in males (cryptorchidism); and a happy disposition. This condition is caused by a deletion at chromosome 8q22.1.,GARD,Nablus mask-like facial syndrome +What are the symptoms of Nablus mask-like facial syndrome ?,"What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Blepharophimosis 90% Cryptorchidism 90% Depressed nasal ridge 90% External ear malformation 90% Highly arched eyebrow 90% Lack of skin elasticity 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Pointed helix 90% Sacrococcygeal pilonidal abnormality 90% Telecanthus 90% Abnormality of dental morphology 50% Abnormality of the nipple 50% Camptodactyly of finger 50% Cognitive impairment 50% Limitation of joint mobility 50% Microcephaly 50% Sandal gap 50% Short neck 50% Abnormal hair quantity 7.5% Abnormality of the eyelashes 7.5% Abnormality of the nares 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Abnormality of the teeth - Autosomal recessive inheritance - Broad neck - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Happy demeanor - High palate - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic nipples - Joint contracture of the hand - Labial hypoplasia - Low anterior hairline - Low-set ears - Mask-like facies - Micropenis - Narrow forehead - Narrow mouth - Posteriorly rotated ears - Postnatal microcephaly - Prominent glabella - Retrognathia - Short nose - Short palpebral fissure - Smooth philtrum - Sparse eyebrow - Sparse eyelashes - Sporadic - Tapered finger - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nablus mask-like facial syndrome +What is (are) Syndactyly type 3 ?,"Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.",GARD,Syndactyly type 3 +What are the symptoms of Syndactyly type 3 ?,"What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 50% Short toe 7.5% 4-5 finger syndactyly - Absent middle phalanx of 5th finger - Autosomal dominant inheritance - Short 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syndactyly type 3 +Is Syndactyly type 3 inherited ?,"How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene and a 50% chance of inheriting the normal gene and being unaffected.",GARD,Syndactyly type 3 +What are the symptoms of Frontofacionasal dysplasia ?,"What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frontofacionasal dysplasia +"What are the symptoms of Glutamine deficiency, congenital ?","What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in infancy 7.5% Flexion contracture 5% Micromelia 5% Apnea - Autosomal recessive inheritance - Bradycardia - Brain atrophy - CNS hypomyelination - Depressed nasal bridge - Encephalopathy - Hyperammonemia - Hyperreflexia - Hypoplasia of the corpus callosum - Low-set ears - Muscular hypotonia - Periventricular cysts - Respiratory insufficiency - Seizures - Severe global developmental delay - Skin rash - Subependymal cysts - Ventriculomegaly - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Glutamine deficiency, congenital" +What are the symptoms of Paris-Trousseau thrombocytopenia ?,"What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system 50% Cognitive impairment 50% Abnormal bleeding - Clinodactyly - Intellectual disability - Prolonged bleeding time - Ptosis - Pyloric stenosis - Radial deviation of finger - Sporadic - Thrombocytopenia - Trigonocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paris-Trousseau thrombocytopenia +What is (are) Asthma ?,"Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms (""asthma attacks"") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.",GARD,Asthma +What are the symptoms of Asthma ?,"What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asthma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Asthma +What is (are) Wolman disease ?,"Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed.",GARD,Wolman disease +What are the symptoms of Wolman disease ?,"What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Cognitive impairment 90% Hepatic failure 90% Hepatomegaly 90% Hyperkeratosis 90% Malabsorption 90% Nausea and vomiting 90% Anemia 50% Ascites 50% Atherosclerosis 50% Congenital hepatic fibrosis 50% Multiple lipomas 50% Splenomegaly 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the adrenal glands 7.5% Cirrhosis 7.5% Esophageal varix 7.5% Pruritus 7.5% Reduced consciousness/confusion 7.5% Adrenal calcification - Autosomal recessive inheritance - Bone-marrow foam cells - Death in infancy - Diarrhea - Failure to thrive - Hepatic fibrosis - Hepatosplenomegaly - Hypercholesterolemia - Protuberant abdomen - Pulmonary hypertension - Steatorrhea - Vacuolated lymphocytes - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wolman disease +What are the treatments for Wolman disease ?,"How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using ""Wolman syndrome[ti] treatment"" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.",GARD,Wolman disease +What are the symptoms of Infantile spasms broad thumbs ?,"What are the signs and symptoms of Infantile spasms broad thumbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile spasms broad thumbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of thumb phalanx 90% Aplasia/Hypoplasia of the corpus callosum 90% Cataract 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Convex nasal ridge 90% EEG abnormality 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Microcephaly 90% Seizures 90% Vaginal hernia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infantile spasms broad thumbs +"What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ?","What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated hepatic transaminases 90% Hepatomegaly 90% Abnormality of coagulation 50% Gastrointestinal hemorrhage 50% Splenomegaly 50% Cirrhosis 7.5% Nyctalopia 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Reduced bone mineral density 7.5% Abnormality of the coagulation cascade - Acholic stools - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Giant cell hepatitis - Hepatic failure - Hyperbilirubinemia - Hypocholesterolemia - Intrahepatic cholestasis - Jaundice - Neonatal onset - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cholestasis, progressive familial intrahepatic 4" +What is (are) Eisenmenger syndrome ?,"Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a ""hole in the heart"" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension).",GARD,Eisenmenger syndrome +What are the symptoms of Eisenmenger syndrome ?,"What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood.",GARD,Eisenmenger syndrome +What causes Eisenmenger syndrome ?,"What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA). The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body.",GARD,Eisenmenger syndrome +What are the treatments for Eisenmenger syndrome ?,"How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease.",GARD,Eisenmenger syndrome +What is (are) Pseudohypoparathyroidism type 1A ?,"Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner.",GARD,Pseudohypoparathyroidism type 1A +What are the symptoms of Pseudohypoparathyroidism type 1A ?,"What are the signs and symptoms of Pseudohypoparathyroidism type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudohypoparathyroidism type 1A +What is (are) Muscular dystrophy ?,"Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.",GARD,Muscular dystrophy +What are the symptoms of Bixler Christian Gorlin syndrome ?,"What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Hypertelorism 90% Microcephaly 90% Oral cleft 90% Abnormal localization of kidney 50% Cognitive impairment 50% Conductive hearing impairment 50% Short stature 50% 2-3 toe syndactyly - Abnormality of cardiovascular system morphology - Abnormality of the vertebrae - Autosomal recessive inheritance - Bifid nose - Broad nasal tip - Cleft palate - Cleft upper lip - Ectopic kidney - Facial cleft - Microtia - Narrow mouth - Short 5th finger - Small thenar eminence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bixler Christian Gorlin syndrome +What is (are) Collagenous colitis ?,"Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may be ongoing or intermittent and may include chronic, watery, non-bloody diarrhea and abdominal pain or cramps. The exact underlying cause is unknown but may relate to a bacteria, a virus, an autoimmune response, and/or a genetic predisposition. Treatment for collagenous colitis varies depending on the symptoms and severity in each individual. In some cases, the condition resolves on its own.",GARD,Collagenous colitis +What are the symptoms of Collagenous colitis ?,"What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be intermittent and can occur over weeks, months or years. Other signs and symptoms that commonly occur in affected individuals include abdominal pain or cramping; flatulence; bloating; and weight loss. Incontinence, urgency, nausea, vomiting and fatigue have also been reported. Some individuals with collagenous colitis experience spontaneous remission even without treatment; however, relapses can occur.",GARD,Collagenous colitis +What are the treatments for Collagenous colitis ?,"How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended.",GARD,Collagenous colitis +What are the symptoms of Spinocerebellar ataxia 40 ?,"What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad-based gait - Dysarthria - Dysdiadochokinesis - Hyperreflexia - Intention tremor - Pontocerebellar atrophy - Spastic paraparesis - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 40 +What are the symptoms of Weyers ulnar ray/oligodactyly syndrome ?,"What are the signs and symptoms of Weyers ulnar ray/oligodactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers ulnar ray/oligodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent thumb - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - High palate - Hydronephrosis - Hypoplasia of the radius - Hypotelorism - Long face - Mesomelia - Narrow face - Oligodactyly (hands) - Proximal placement of thumb - Proximal radial head dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Weyers ulnar ray/oligodactyly syndrome +What are the symptoms of Thalamic degeneration symmetrical infantile ?,"What are the signs and symptoms of Thalamic degeneration symmetrical infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration symmetrical infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thalamic degeneration symmetrical infantile +What is (are) L1 syndrome ?,"L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most severe of all; MASA syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked complicated corpus callosum agenesis. It is inherited in an X-linked manner; therefore, it only affects males. It is caused by alterations (mutations) in L1CAM gene. The diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with X-linked inheritance and is confirmed by a genetic test showing the L1CAM gene mutation. The treatment involves doing a surgery for the hydrocephalus.",GARD,L1 syndrome +What are the symptoms of L1 syndrome ?,"What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aqueductal stenosis 90% Behavioral abnormality 90% Cognitive impairment 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Hyperreflexia 90% Hypertonia 90% Migraine 90% Nausea and vomiting 90% Neurological speech impairment 90% Adducted thumb 50% Aganglionic megacolon 7.5% Seizures 7.5% Skeletal muscle atrophy 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,L1 syndrome +What is (are) Multiple system atrophy ?,"Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinsons disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinsons disease are sometimes referred to as synucleinopathies. There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.",GARD,Multiple system atrophy +What are the symptoms of Multiple system atrophy ?,"What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple system atrophy +What are the symptoms of Paroxysmal cold hemoglobinuria ?,"What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of temperature regulation 90% Abnormality of urine homeostasis 90% Arthralgia 90% Hemolytic anemia 90% Recurrent respiratory infections 90% Diarrhea 7.5% Migraine 7.5% Nausea and vomiting 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paroxysmal cold hemoglobinuria +What is (are) Dent disease 1 ?,"Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcinosis), and kidney stones (nephrolithiasis). In many males with Dent disease, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD ia a failure of kidney function that occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. Disease severity can vary even among members of the same family. Dent disease type 1 is inherited in an X-linked recessive manner. Approximately 60% of individuals with Dent disease 1 have a mutation in the CLCN5 gene which is located on the X chromosome. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, proteinuria.",GARD,Dent disease 1 +What are the symptoms of Dent disease 1 ?,"What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Bone pain - Bowing of the legs - Bulging epiphyses - Chronic kidney disease - Delayed epiphyseal ossification - Enlargement of the ankles - Enlargement of the wrists - Femoral bowing - Fibular bowing - Glycosuria - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Increased serum 1,25-dihydroxyvitamin D3 - Low-molecular-weight proteinuria - Metaphyseal irregularity - Microscopic hematuria - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Phenotypic variability - Proximal tubulopathy - Recurrent fractures - Renal phosphate wasting - Rickets - Short stature - Sparse bone trabeculae - Thin bony cortex - Tibial bowing - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dent disease 1 +What is (are) Palmoplantar keratoderma ?,"Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. PPK can either be inherited or acquired. Acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. The hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). They can be inherited in an autosomal dominant or autosomal recessive patterns.",GARD,Palmoplantar keratoderma +What are the treatments for Palmoplantar keratoderma ?,"How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. Treatment may include simple measures such as saltwater soaks, emollients, and paring. More aggressive treatment includes topical keratolytics, topical retinoids, systemic retinoids (acitretin), topical vitamin D ointment (calcipotriol), or surgery to removed the skin, following by skin grafting.",GARD,Palmoplantar keratoderma +What is (are) CDKL5-related disorder ?,"A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions.",GARD,CDKL5-related disorder +What is (are) Perniosis ?,"Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms.",GARD,Perniosis +What is (are) Dicarboxylic aminoaciduria ?,Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.,GARD,Dicarboxylic aminoaciduria +What are the symptoms of Dicarboxylic aminoaciduria ?,"What are the signs and symptoms of Dicarboxylic aminoaciduria? There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases. Others that have been diagnosed had virtually no signs or symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Dicarboxylic aminoaciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Autosomal recessive inheritance - Fasting hypoglycemia - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dicarboxylic aminoaciduria +What is (are) Lemierre syndrome ?,"Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease. The bacterial infection begins in the oropharynx then spreads through the lymphatic vessels. Following this primary infection, thrombophlebitis of the internal jugular vein (IJV) develops. The final phase of the disease occurs when septic emboli (pus-containing tissue) migrate from their original location in the body to various organs. The lungs are most commonly involved, however other sites may include the joints, muscle, skin and soft tissue, liver, and spleen. The symptoms of Lemierre syndrome include fever, sore throat, neck swelling, pulmonary involvement and joint pain. It is an uncommon disease that occurs in about one person per million per year. The disease primarily affects healthy young people before age 40. Diagnosis of Lemierre syndrome rests on the presence of a blood clot (or clots) in the IJV and blood cultures that show the presence of Fusobacterium necrophorum. Intravenous antibiotics are the mainstay of treatment.",GARD,Lemierre syndrome +What are the symptoms of Lemierre syndrome ?,"What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein.[ If undiagnosed, the next stage is the ""metastasis"" of septic emboli to the lungs, abdominal organs, brain or heart. Lung involvement typically results in a productive cough (a cough that brings up mucus or phlegm) and chest pain. Girls may report abdominal pain and have enlargement of the liver (hepatomegaly) and jaundice, all of which indicate involvement of the liver.",GARD,Lemierre syndrome +What causes Lemierre syndrome ?,"What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.",GARD,Lemierre syndrome +How to diagnose Lemierre syndrome ?,"How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis.",GARD,Lemierre syndrome +What are the treatments for Lemierre syndrome ?,"How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of the internal jugular vein may be required only in the rare patient who fails to respond to antibiotic treatment alone.",GARD,Lemierre syndrome +What is (are) Pityriasis lichenoides ?,"Pityriasis lichenoides is a skin disorder of unknown cause. There are two types of pityriasis lichenoides; a more severe form with a sudden onset that tends to be short-lived (acute) which is usually found in children, known as pityriasis lichenoides et varioliformis acuta and a more mild but long-lasting (chronic) form known as pityriasis lichenoides chronica. Pityriasis lichenoides chronica may clear up in a few weeks or persist for years.",GARD,Pityriasis lichenoides +What are the treatments for Pityriasis lichenoides ?,"What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, tar preparations, and antihistamines may provide relief without changing the course of the disease. In adult patients, administration of methotrexate and oral tetracycline has led to good results; however, these medications are inappropriate for first-line treatment in young children. In addition to tetracycline, erythromycin is another antibiotic that is commonly used to treat pityriasis lichenoides. Sunlight is helpful, and excellent therapeutic responses to UVB phototherapy are documented. UVB therapy is more difficult in young children, and there is little data regarding the long-term risks of phototherapy in the pediatric population. It is difficult to interpret the results of formal therapy evaluations because of the frequency of spontaneous remissions.",GARD,Pityriasis lichenoides +"What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ?","What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astigmatism 5% Myopia 5% Patellar subluxation 5% Psychosis 5% Abnormality of the musculature - Adrenal medullary hypoplasia - Broad forehead - Coarse facial features - Delayed speech and language development - Dolichocephaly - Intellectual disability - Macrocephaly - Mandibular prognathia - Megalencephaly - Optic atrophy - Pointed chin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mental retardation, macrocephaly, short stature and craniofacial dysmorphism" +What is (are) Androgen insensitivity syndrome ?,"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.",GARD,Androgen insensitivity syndrome +What are the symptoms of Androgen insensitivity syndrome ?,"What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of female internal genitalia 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Hernia of the abdominal wall 50% Testicular neoplasm 7.5% Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Androgen insensitivity syndrome +What is (are) Ascher Syndrome ?,"Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity. Treatment may include surgical excision of the double lip and/or surgery for eyelid edema.",GARD,Ascher Syndrome +What are the symptoms of Ascher Syndrome ?,"What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Goiter 50% Hypothyroidism 50% Ptosis 50% Visual impairment 50% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Deviation of finger 7.5% Hypertelorism 7.5% Abnormality of the eye - Abnormality of the mouth - Autosomal dominant inheritance - Blepharochalasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ascher Syndrome +What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ?,"What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Split hand 90% Hypoplasia of the ulna - Short finger - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ulnar hypoplasia lobster claw deformity of feet +What is (are) Kernicterus ?,"Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. People living with kernicterus may experience athetoid cerebral palsy, hearing loss, intellectual disability, vision abnormalities, and behavioral difficulties. Approximately 60% of all newborn babies will have jaundice, a condition that is characterized by high level of bilirubin in the blood. Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor. Early detection and management of jaundice can prevent kernicterus.",GARD,Kernicterus +What are the symptoms of Kernicterus ?,"What are the signs and symptoms of Kernicterus? The Human Phenotype Ontology provides the following list of signs and symptoms for Kernicterus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kernicterus +What are the symptoms of Neonatal adrenoleukodystrophy ?,"What are the signs and symptoms of Neonatal adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Abnormality of the liver 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Developmental regression 90% Dolichocephaly 90% EEG abnormality 90% High forehead 90% Hyperreflexia 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Nystagmus 90% Optic atrophy 90% Primary adrenal insufficiency 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Strabismus 90% Abnormality of neuronal migration 50% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Cataract 50% Macrocephaly 50% Ptosis 50% Single transverse palmar crease 50% Visual impairment 50% Abnormal facial shape - Adrenal insufficiency - Autosomal recessive inheritance - Elevated long chain fatty acids - Epicanthus - Esotropia - Frontal bossing - High palate - Intellectual disability - Low-set ears - Polar cataract - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neonatal adrenoleukodystrophy +What is (are) Periventricular heterotopia ?,"Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.",GARD,Periventricular heterotopia +What are the symptoms of Periventricular heterotopia ?,"What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some girls with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. In the X-linked form of periventricular nodular heterotopia, affected patients are mostly females because in males the symptoms are too serious and they die before birth. The following clinical features have been reported: seizure disorder, mental problems, heart anomalies, stomach immobility, strabismus, short fingers and dyslexia. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia) which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. In the autosomal recessive form of periventricular heterotopia the disorder is severe and may include microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show any signs or symptoms of this condition.",GARD,Periventricular heterotopia +How to diagnose Periventricular heterotopia ?,"What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823] Imaging exams of the brain to establish the diagnosis Evaluation by a neurologist Evaluation by a doctor specialized in epilepsy if seizures are present Psychiatric evaluation if necessary Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm Evaluation by a hematologist if findings suggest a bleeding diathesis.",GARD,Periventricular heterotopia +What are the treatments for Periventricular heterotopia ?,"How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.",GARD,Periventricular heterotopia +"What are the symptoms of Epidermolysis bullosa simplex, localized ?","What are the signs and symptoms of Epidermolysis bullosa simplex, localized? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, localized. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Bruising susceptibility 90% Hyperhidrosis 50% Hyperkeratosis 5% Milia 5% Autosomal dominant inheritance - Palmoplantar blistering - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa simplex, localized" +What are the symptoms of Verloes Bourguignon syndrome ?,"What are the signs and symptoms of Verloes Bourguignon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloes Bourguignon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the maxilla 5% Mandibular prognathia 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Delayed skeletal maturation - Herniation of intervertebral nuclei - Intervertebral space narrowing - Microdontia - Narrow vertebral interpedicular distance - Oligodontia - Platyspondyly - Short stature - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Verloes Bourguignon syndrome +"What are the symptoms of Synovial chondromatosis, familial with dwarfism ?","What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia - Autosomal dominant inheritance - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Synovial chondromatosis, familial with dwarfism" +What is (are) Gordon syndrome ?,"Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. Intelligence is usually normal. In some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. The range and severity of symptoms may vary from case to case. Gordon syndrome is thought to be inherited in an autosomal dominant or X-linked dominant manner. The exact cause remains unknown.",GARD,Gordon syndrome +What are the symptoms of Gordon syndrome ?,"What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of features in affected individuals can vary. Most infants with Gordon syndrome have several fingers that are permanently fixed in a flexed position (camptodactyly), which may result in limited range of motion and compromised manual dexterity. Affected infants may also have clubfoot. Approximately 20-30% have cleft palate (incomplete closure of the roof of the mouth). Other signs and symptoms in some individuals may include a bifid uvula (abnormal splitting of the soft hanging tissue at the back of the throat); short stature; dislocation of the hip; abnormal backward curvature of the upper spine (lordosis); and/or kyphoscoliosis. In addition, some affected individuals may have drooping of the eyelids (ptosis); epicanthal folds; syndactyly (webbing of the fingers and/or toes); abnormal skin patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). Some affected males have undescended testes (cryptorchidism). Cognitive development is typically normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Gordon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Talipes 90% Skeletal muscle atrophy 50% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Limitation of joint mobility 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short stature 7.5% Ophthalmoplegia 5% Abnormality of the rib cage - Autosomal dominant inheritance - Bifid uvula - Camptodactyly of toe - Congenital hip dislocation - Cutaneous finger syndactyly - Decreased hip abduction - Distal arthrogryposis - Down-sloping shoulders - Epicanthus - High palate - Knee flexion contracture - Kyphoscoliosis - Lumbar hyperlordosis - Overlapping toe - Ptosis - Short neck - Short phalanx of finger - Single transverse palmar crease - Submucous cleft hard palate - Talipes equinovarus - Thoracolumbar scoliosis - Ulnar deviation of the hand or of fingers of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gordon syndrome +Is Gordon syndrome inherited ?,"How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. If a condition shows variable or reduced expressivity, it means that there can be a range in the nature and severity of signs and symptoms among affected individuals. Incomplete penetrance means that a portion of the individuals who carry the mutated copy of the disease-causing gene will not have any features of the condition.",GARD,Gordon syndrome +What are the symptoms of Torsion dystonia with onset in infancy ?,"What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Infantile onset - Torsion dystonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Torsion dystonia with onset in infancy +What are the symptoms of Methylmalonic acidemia with homocystinuria ?,"What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the oral cavity 90% Anorexia 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Muscular hypotonia 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Behavioral abnormality 50% Gait disturbance 50% Infantile onset 50% Skin rash 7.5% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Methylmalonic acidemia with homocystinuria +What is (are) Patulous Eustachian Tube ?,"Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome.",GARD,Patulous Eustachian Tube +What are the treatments for Patulous Eustachian Tube ?,"How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They may also be advised to avoid diuretics and/or increase weight. Medications which have been shown to work in some patients include nasal sprays containing anticholinergics, estrogen, diluted hydrochloric acid, chlorobutanol, or benzyl alcohol. Surgical treatment may be indicated in some cases. Information detailing treatment options can be accessed through Medscape Reference.",GARD,Patulous Eustachian Tube +What are the symptoms of Bardet-Biedl syndrome 12 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 12 +What is (are) Type 1 plasminogen deficiency ?,"Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.",GARD,Type 1 plasminogen deficiency +What are the symptoms of Type 1 plasminogen deficiency ?,"What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. Involvement of the cornea may result in blindness. Other, less common manifestations are ligenous gingivitis, otitis media, ligneous bronchitis and pneumonia, involvement of the gastrointestinal or female genital tract, juvenile colloid milium of the skin (condition in which clear papules develop on sun-exposed areas of the skin), and congenital hydrocephalus. Although the condition is known to cause thrombotic events in mice, no reports of venous thrombosis in humans with the condition have been documented.[826] The Human Phenotype Ontology provides the following list of signs and symptoms for Type 1 plasminogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the oral cavity 50% Abnormality of the intestine 7.5% Abnormality of the middle ear 7.5% Abnormality of the respiratory system 7.5% Dandy-Walker malformation 7.5% Hydrocephalus 7.5% Nephrolithiasis 7.5% Polycystic ovaries 7.5% Nephritis 5% Abnormality of metabolism/homeostasis - Abnormality of the cardiovascular system - Abnormality of the ear - Abnormality of the larynx - Abnormality of the skin - Autosomal recessive inheritance - Blindness - Cerebellar hypoplasia - Conjunctivitis - Duodenal ulcer - Gingival overgrowth - Gingivitis - Infantile onset - Macrocephaly - Periodontitis - Recurrent upper respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Type 1 plasminogen deficiency +What causes Type 1 plasminogen deficiency ?,"What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site.",GARD,Type 1 plasminogen deficiency +Is Type 1 plasminogen deficiency inherited ?,"Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms.",GARD,Type 1 plasminogen deficiency +What are the treatments for Type 1 plasminogen deficiency ?,"How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.",GARD,Type 1 plasminogen deficiency +"What are the symptoms of Lipodystrophy, familial partial, type 2 ?","What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 90% Diabetes mellitus 90% Hepatomegaly 90% Insulin resistance 90% Lipoatrophy 90% Multiple lipomas 90% Round face 90% Skeletal muscle hypertrophy 90% Acute pancreatitis 75% Abnormality of the nail 50% Advanced eruption of teeth 50% Secondary amenorrhea 50% Thin skin 50% Abnormality of complement system 7.5% Acanthosis nigricans 7.5% Cellulitis 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Glomerulopathy 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Myalgia 7.5% Myopathy 7.5% Polycystic ovaries 7.5% Splenomegaly 7.5% Toxemia of pregnancy 7.5% Adipose tissue loss - Atherosclerosis - Autosomal dominant inheritance - Decreased subcutaneous fat - Enlarged peripheral nerve - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertension - Hypertriglyceridemia - Hypoalphalipoproteinemia - Increased adipose tissue around the neck - Increased facial adipose tissue - Increased intraabdominal fat - Increased intramuscular fat - Insulin-resistant diabetes mellitus - Labial pseudohypertrophy - Loss of subcutaneous adipose tissue in limbs - Loss of truncal subcutaneous adipose tissue - Prominent superficial veins - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Lipodystrophy, familial partial, type 2" +What is (are) D-2-alpha hydroxyglutaric aciduria ?,"D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.",GARD,D-2-alpha hydroxyglutaric aciduria +What are the symptoms of D-2-alpha hydroxyglutaric aciduria ?,"What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic regurgitation - Apnea - Autosomal recessive inheritance - Cardiomyopathy - D-2-hydroxyglutaric aciduria - Delayed CNS myelination - Dilation of lateral ventricles - Episodic vomiting - Frontal bossing - Glutaric aciduria - Infantile encephalopathy - Inspiratory stridor - Intellectual disability - Macrocephaly - Multifocal cerebral white matter abnormalities - Muscle weakness - Muscular hypotonia - Prominent forehead - Seizures - Subependymal cysts - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,D-2-alpha hydroxyglutaric aciduria +What are the symptoms of Brugada syndrome 4 ?,"What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Shortened QT interval - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brugada syndrome 4 +What is (are) VACTERL association ?,"VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.",GARD,VACTERL association +What are the symptoms of VACTERL association ?,"What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,VACTERL association +What causes VACTERL association ?,"Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. When a condition is defined as being an ""association"", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature. Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.",GARD,VACTERL association +How to diagnose VACTERL association ?,"Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition. GeneTests lists the names of laboratories that are performing genetic testing for VACTERL association. Although no clinical laboratories are listed for this condition, there are some research laboratories performing genetic testing; to see a list of these laboratories, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. How is VACTERL association diagnosed? Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities. Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.",GARD,VACTERL association +What is (are) Chiari malformation ?,"Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Treatment may require surgery. Many patients with the more severe types of Chiari malformations who undergo surgery see a reduction in their symptoms and/or prolonged periods of relative stability, however paralysis is generally permanent despite surgery. There are four types of Chiari malformations. The types tend to correspond with the degree of severity, with type 1 being the most common and least severe. Some people with type 1 have no symptoms and do not require treatment. Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type 3 Chiari malformation type 4",GARD,Chiari malformation +What are the symptoms of Chiari malformation ?,"What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chiari malformation +What are the symptoms of Charcot-Marie-Tooth disease type 2B1 ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B1? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hyporeflexia - Kyphoscoliosis - Onion bulb formation - Onset - Peripheral axonal atrophy - Pes cavus - Steppage gait - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2B1 +What is (are) Alagille syndrome ?,"Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. Symptoms and symptom severity varies, even among people in the same family. Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern. Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary.",GARD,Alagille syndrome +What are the symptoms of Alagille syndrome ?,"What are the signs and symptoms of Alagille syndrome? Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas). Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot. People with Alagille syndrome may also have distinctive facial features (including a broad, prominent forehead; deep-set eyes; and a small, pointed chin), problems with the blood vessels within the brain and spinal cord (central nervous system) and the kidneys, and an unusual butterfly shape of the bones of the spinal column (vertebrae). Detailed information about the symptoms associated with Allagille syndrome can be accessed through the National Digestive Diseases Information Clearinghouse (NDDIC) and GeneReviews. The Human Phenotype Ontology provides the following list of signs and symptoms for Alagille syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract abnormality 90% Corneal dystrophy 90% Hepatomegaly 90% Ventricular septal defect 90% Abnormal form of the vertebral bodies 50% Abnormal nasal morphology 50% Abnormality of the pinna 50% Coarse facial features 50% Frontal bossing 50% Intrauterine growth retardation 50% Pointed chin 50% Round face 50% Spina bifida occulta 50% Telangiectasia of the skin 50% Vertebral segmentation defect 50% Abnormality of chromosome segregation 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Abnormality of the ulna 7.5% Abnormality of the ureter 7.5% Atria septal defect 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Decreased corneal thickness 7.5% Deeply set eye 7.5% Delayed skeletal maturation 7.5% Hypertelorism 7.5% Hypertension 7.5% Intellectual disability, mild 7.5% Malar flattening 7.5% Nephrotic syndrome 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Short philtrum 7.5% Strabismus 7.5% Areflexia - Autosomal dominant inheritance - Axenfeld anomaly - Band keratopathy - Broad forehead - Butterfly vertebral arch - Cataract - Chorioretinal atrophy - Cirrhosis - Coarctation of aorta - Depressed nasal bridge - Elevated hepatic transaminases - Exocrine pancreatic insufficiency - Failure to thrive - Hemivertebrae - Hepatocellular carcinoma - Hypercholesterolemia - Hypertriglyceridemia - Hypoplasia of the ulna - Incomplete penetrance - Infantile onset - Long nose - Macrotia - Microcornea - Multiple small medullary renal cysts - Myopia - Papillary thyroid carcinoma - Peripheral pulmonary artery stenosis - Pigmentary retinal deposits - Posterior embryotoxon - Prolonged neonatal jaundice - Reduced number of intrahepatic bile ducts - Renal dysplasia - Renal hypoplasia - Renal tubular acidosis - Specific learning disability - Stroke - Tetralogy of Fallot - Triangular face - Upslanted palpebral fissure - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alagille syndrome +What are the symptoms of Purpura simplex ?,"What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Ptosis - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Purpura simplex +What are the symptoms of Kuster Majewski Hammerstein syndrome ?,"What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kuster Majewski Hammerstein syndrome +"What are the symptoms of Renal tubular acidosis, distal, type 3 ?","What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bicarbonate-wasting renal tubular acidosis - Hypokalemia - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Periodic paralysis - Rickets - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Renal tubular acidosis, distal, type 3" +What are the symptoms of Bartter syndrome antenatal type 2 ?,"What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypomagnesemia 7.5% Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hyposthenuria - Impaired platelet aggregation - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Triangular face - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bartter syndrome antenatal type 2 +What are the symptoms of Sonoda syndrome ?,"What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the oral cavity 90% Anteverted nares 90% Depressed nasal ridge 90% Generalized hyperpigmentation 90% Hypopigmentation of hair 90% Narrow mouth 90% Round face 90% Short nose 90% Short stature 90% Displacement of the external urethral meatus 50% Autosomal recessive inheritance - Depressed nasal bridge - High axial triradius - Intellectual disability - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sonoda syndrome +What are the symptoms of Penoscrotal transposition ?,"What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Penoscrotal transposition +What is (are) Kluver Bucy syndrome ?,"Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.",GARD,Kluver Bucy syndrome +What is (are) Trichorhinophalangeal syndrome type 1 ?,"Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.",GARD,Trichorhinophalangeal syndrome type 1 +What are the symptoms of Trichorhinophalangeal syndrome type 1 ?,"What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormally low-pitched voice - Accelerated bone age after puberty - Arthralgia - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Carious teeth - Chin with horizontal crease - Concave nail - Cone-shaped epiphyses of the middle phalanges of the hand - Cone-shaped epiphyses of the proximal phalanges of the hand - Coxa magna - Deep philtrum - Delayed eruption of teeth - Delayed skeletal maturation - Dental malocclusion - Fine hair - Flat capital femoral epiphysis - Infantile muscular hypotonia - Ivory epiphyses of the distal phalanges of the hand - Leukonychia - Microdontia - Narrow palate - Osteoarthritis - Osteopenia - Pear-shaped nose - Pes planus - Protruding ear - Recurrent respiratory infections - Scapular winging - Short metacarpal - Short metatarsal - Slow-growing hair - Sparse hair - Sparse lateral eyebrow - Swelling of proximal interphalangeal joints - Thin nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichorhinophalangeal syndrome type 1 +What is (are) Rabson-Mendenhall syndrome ?,"Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.",GARD,Rabson-Mendenhall syndrome +What are the symptoms of Rabson-Mendenhall syndrome ?,"What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdominal wall 90% Abnormality of the fingernails 90% Acanthosis nigricans 90% Advanced eruption of teeth 90% Coarse facial features 90% Congenital, generalized hypertrichosis 90% Diabetes mellitus 90% Female pseudohermaphroditism 90% Growth hormone excess 90% Intrauterine growth retardation 90% Long penis 90% Mandibular prognathia 90% Abnormality of the thyroid gland 50% Brachydactyly syndrome 50% Coarse hair 50% Dry skin 50% Peripheral neuropathy 50% Precocious puberty 50% Prematurely aged appearance 50% Proteinuria 50% Short stature 50% Abnormality of the upper urinary tract 7.5% Polycystic ovaries 7.5% Autosomal recessive inheritance - Clitoromegaly - Diabetic ketoacidosis - Fasting hypoglycemia - High palate - Hyperglycemia - Hyperinsulinemia - Hypertrichosis - Hypoglycemia - Insulin-resistant diabetes mellitus - Onychauxis - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rabson-Mendenhall syndrome +What are the symptoms of Anal sphincter dysplasia ?,"What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chronic constipation - Encopresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anal sphincter dysplasia +What is (are) LCHAD deficiency ?,"LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]",GARD,LCHAD deficiency +What are the symptoms of LCHAD deficiency ?,"What are the signs and symptoms of LCHAD deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for LCHAD deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cardiomyopathy - Hepatomegaly - Hypoglycemia - Long chain 3 hydroxyacyl coA dehydrogenase deficiency - Muscular hypotonia - Pigmentary retinopathy - Sudden death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,LCHAD deficiency +What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ?,"What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Duodenal ulcer - Hyperpepsinogenemia I - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duodenal ulcer due to antral G-cell hyperfunction +What is (are) Tyrosinemia type 1 ?,"Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.",GARD,Tyrosinemia type 1 +What are the symptoms of Tyrosinemia type 1 ?,"What are the signs and symptoms of Tyrosinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Abnormality of bone mineral density 7.5% Abnormality of the spleen 7.5% Hepatomegaly 7.5% Abnormal bleeding - Abnormality of the abdominal wall - Acute hepatic failure - Ascites - Autosomal recessive inheritance - Cirrhosis - Elevated alpha-fetoprotein - Elevated hepatic transaminases - Elevated urinary delta-aminolevulinic acid - Enlarged kidneys - Episodic peripheral neuropathy - Failure to thrive - Gastrointestinal hemorrhage - Glomerulosclerosis - Hepatocellular carcinoma - Hypermethioninemia - Hypertrophic cardiomyopathy - Hypertyrosinemia - Hypoglycemia - Hypophosphatemic rickets - Nephrocalcinosis - Pancreatic islet-cell hyperplasia - Paralytic ileus - Periodic paralysis - Renal Fanconi syndrome - Renal insufficiency - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tyrosinemia type 1 +What are the treatments for Tyrosinemia type 1 ?,"How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnosis and prompt treatment are essential for an improved prognosis. Some individuals require a liver transplant if their liver disease is already advanced before treatment begins. Detailed information on the treatment of tyrosinemia type 1 is available from GeneReviews.",GARD,Tyrosinemia type 1 +What is (are) Limb-girdle muscular dystrophy type 2A ?,"Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Treatment is aimed at maintaining mobility and preventing complications. There are three subtypes of LGMD2A which differ by the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. Onset is usually before age 12 or after age 30; Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected don't have symptoms, just high levels of creatine kinase in their blood.",GARD,Limb-girdle muscular dystrophy type 2A +What are the symptoms of Limb-girdle muscular dystrophy type 2A ?,"What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Autosomal recessive inheritance - Clumsiness - Difficulty walking - Elevated serum creatine phosphokinase - Eosinophilia - Flexion contracture - Muscular dystrophy - Proximal amyotrophy - Scapular winging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb-girdle muscular dystrophy type 2A +"What is (are) 46,XX testicular disorder of sex development ?","46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.",GARD,"46,XX testicular disorder of sex development" +"What are the symptoms of 46,XX testicular disorder of sex development ?","What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the testis 90% Polycystic ovaries 90% Ovotestis 5% Autosomal dominant inheritance - Azoospermia - Bifid scrotum - Decreased serum testosterone level - Hypoplasia of the uterus - Hypoplasia of the vagina - Micropenis - Perineal hypospadias - Scrotal hypoplasia - True hermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"46,XX testicular disorder of sex development" +What is (are) Dystonia 8 ?,"Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern.",GARD,Dystonia 8 +What are the symptoms of Dystonia 8 ?,"What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Dysarthria - Dysphagia - Facial grimacing - Infantile onset - Myokymia - Paroxysmal choreoathetosis - Paroxysmal dystonia - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 8 +What causes Dystonia 8 ?,"Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions outside the basal ganglia (including those due to penetrating injury) have been reported as causing symptoms similar to those found in paroxysmal nonkinesigenic dyskinesia. In these situations, careful evaluation by a neurologist and neuroimaging (such as MRI) may be necessary for diagnosis.",GARD,Dystonia 8 +What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ?,"What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the outer ear 90% Abnormality of the palate 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Hypermelanotic macule 90% Mastocytosis 90% Microcephaly 90% Muscular hypotonia 90% Optic atrophy 90% Proptosis 90% Pruritus 90% Seizures 90% Short stature 90% Thick lower lip vermilion 90% Triangular face 90% Upslanted palpebral fissure 90% Urticaria 90% Abnormal nasal morphology 7.5% Lower limb asymmetry 7.5% Prominent supraorbital ridges 7.5% Scoliosis 7.5% Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Cutaneous mastocytosis - Feeding difficulties - High palate - Intellectual disability - Microtia - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mastocytosis cutaneous with short stature conductive hearing loss and microtia +What is (are) Anophthalmia plus syndrome ?,"Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.",GARD,Anophthalmia plus syndrome +What are the symptoms of Anophthalmia plus syndrome ?,"What are the signs and symptoms of Anophthalmia plus syndrome? Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmia plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 50% Cleft palate 50% Facial cleft 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Non-midline cleft lip 50% Aplasia/Hypoplasia of the earlobes 7.5% Aplasia/Hypoplasia of the sacrum 7.5% Blepharophimosis 7.5% Cleft eyelid 7.5% Deviation of finger 7.5% Iris coloboma 7.5% Spina bifida 7.5% Vertebral segmentation defect 7.5% Abnormality of the genitourinary system - Abnormality of the vertebral column - Anophthalmia - Autosomal recessive inheritance - Bilateral cleft lip and palate - Macrotia - Microphthalmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anophthalmia plus syndrome +How to diagnose Anophthalmia plus syndrome ?,"How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.",GARD,Anophthalmia plus syndrome +What are the symptoms of Cornea guttata with anterior polar cataract ?,"What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cornea guttata with anterior polar cataract +"What are the symptoms of Tremors, nystagmus and duodenal ulcers ?","What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Tremors, nystagmus and duodenal ulcers" +What are the symptoms of Coenzyme Q10 deficiency ?,"What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Dysarthria - Elevated serum creatine phosphokinase - Encephalopathy - Glomerulosclerosis - Hepatic failure - Hypergonadotropic hypogonadism - Hypertrophic cardiomyopathy - Intellectual disability - Lactic acidosis - Motor delay - Nephrotic syndrome - Nystagmus - Onset - Pancytopenia - Phenotypic variability - Postural instability - Progressive muscle weakness - Ragged-red muscle fibers - Recurrent myoglobinuria - Rod-cone dystrophy - Scanning speech - Seizures - Sensorineural hearing impairment - Specific learning disability - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Coenzyme Q10 deficiency +What is (are) Hemangioma thrombocytopenia syndrome ?,"Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.",GARD,Hemangioma thrombocytopenia syndrome +What are the symptoms of Hemangioma thrombocytopenia syndrome ?,"What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hemangioma - Hyperkalemia - Microangiopathic hemolytic anemia - Thrombocytopenia - Ventricular arrhythmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemangioma thrombocytopenia syndrome +What are the symptoms of Mitochondrial trifunctional protein deficiency ?,"What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pigmentary retinopathy 2/16 Abnormality of the amniotic fluid - Autosomal recessive inheritance - Congestive heart failure - Dilated cardiomyopathy - Elevated hepatic transaminases - Failure to thrive - Generalized muscle weakness - Hydrops fetalis - Hyperammonemia - Hypoketotic hypoglycemia - Lactic acidosis - Muscular hypotonia - Myoglobinuria - Peripheral neuropathy - Prenatal maternal abnormality - Respiratory failure - Rhabdomyolysis - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial trifunctional protein deficiency +"What is (are) 2,4-Dienoyl-CoA reductase deficiency ?","2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.",GARD,"2,4-Dienoyl-CoA reductase deficiency" +"What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ?","What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hyperlysinemia - Neonatal hypotonia - Respiratory acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"2,4-Dienoyl-CoA reductase deficiency" +What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ?,"What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal light-adapted electroretinogram - Abnormality of metabolism/homeostasis - Adult onset - Cone/cone-rod dystrophy - Retinal detachment - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone dystrophy X-linked with tapetal-like sheen +What is (are) Diabetes mellitus type 1 ?,"Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain ""variants"" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body.",GARD,Diabetes mellitus type 1 +What are the symptoms of Diabetes mellitus type 1 ?,"What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Diabetes mellitus - Heterogeneous - Hyperglycemia - Ketoacidosis - Polydipsia - Polyphagia - Polyuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diabetes mellitus type 1 +Is Diabetes mellitus type 1 inherited ?,"Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some genetic risk factors have been found. The risk of developing DM1 is increased by having certain versions (variants) of genes, which belong to a family of genes called the human leukocyte antigen (HLA) complex. HLA genes have many variations, and people have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing DM1, with particular combinations causing the highest risk. However, these variants are also found in the general population, and only about 5% of people with the gene variants develop DM1. Other genes, as well as a variety of other factors, are thought to influence the risk for DM1 also. Because there is no specific inheritance pattern associated with DM1, it is difficult to predict whether another family member will develop the condition. Generally, the risk is higher if a parent or sibling is affected. In some cases, genetic testing can be done to determine if someone who has a family history is at increased risk of developing the condition. More information can be found on the America Diabetes Association's Web site, which has an article entitled Genetics of Diabetes. People with specific questions about genetic risks to themselves or family members should speak with their health care provider or a genetics professional.",GARD,Diabetes mellitus type 1 +What is (are) Dihydropteridine reductase deficiency ?,"Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by mutations in the QDPR gene. It is inherited in an autosomal recessive manner. Treatment should be started as soon as possible and includes BH4 supplementation usually combined with a diet without phenylalanine, folate supplementation, and specific medications to restore the levels of neurotransmitters in the brain.",GARD,Dihydropteridine reductase deficiency +What are the symptoms of Dihydropteridine reductase deficiency ?,"What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Autosomal recessive inheritance - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperphenylalaninemia - Hypertonia - Infantile onset - Intellectual disability - Irritability - Muscular hypotonia - Myoclonus - Progressive neurologic deterioration - Seizures - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dihydropteridine reductase deficiency +What is (are) Congenital disorders of glycosylation ?,"Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.",GARD,Congenital disorders of glycosylation +What are the symptoms of Congenital disorders of glycosylation ?,"What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of coagulation 90% Abnormality of immune system physiology 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Aplasia/Hypoplasia of the nipples 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Elevated hepatic transaminases 90% Strabismus 90% Abnormality of the genital system 50% Abnormality of the pericardium 50% Broad forehead 50% Hypertrophic cardiomyopathy 50% Hypoglycemia 50% Seizures 50% Abnormality of the intestine 7.5% Ascites 7.5% Nephropathy 7.5% Peripheral neuropathy 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital disorders of glycosylation +What are the symptoms of Pulmonary venous return anomaly ?,"What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary venous return anomaly +What are the symptoms of Spinocerebellar ataxia 20 ?,"What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Adult onset - Autosomal dominant inheritance - Dysarthria - Dysphonia - Gait ataxia - High pitched voice - Hypermetric saccades - Limb ataxia - Nystagmus - Palatal myoclonus - Postural tremor - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 20 +What is (are) Aniridia ?,"References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011.",GARD,Aniridia +What are the symptoms of Aniridia ?,"What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aniridia +What are the treatments for Aniridia ?,"How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist. Additional treatment is adapted to each individual depending on the associated complications.",GARD,Aniridia +What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ?,"What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Autosomal recessive inheritance - Insulin resistance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acanthosis nigricans muscle cramps acral enlargement +What is (are) Childhood hypophosphatasia ?,"Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes (mutations) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA.",GARD,Childhood hypophosphatasia +What are the symptoms of Childhood hypophosphatasia ?,"What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bowing of the legs - Carious teeth - Craniosynostosis - Dolichocephaly - Elevated plasma pyrophosphate - Elevated urine pyrophosphate - Frontal bossing - Low alkaline phosphatase - Myopathy - Phosphoethanolaminuria - Premature loss of primary teeth - Proptosis - Rachitic rosary - Seizures - Short stature - Skin dimple over apex of long bone angulation - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Childhood hypophosphatasia +What is (are) Duchenne muscular dystrophy ?,"Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart. There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.",GARD,Duchenne muscular dystrophy +What are the symptoms of Duchenne muscular dystrophy ?,"What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia - Calf muscle pseudohypertrophy - Childhood onset - Congestive heart failure - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Hyporeflexia - Hypoventilation - Intellectual disability, mild - Muscular dystrophy - Muscular hypotonia - Respiratory failure - Scoliosis - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duchenne muscular dystrophy +Is Duchenne muscular dystrophy inherited ?,"How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.",GARD,Duchenne muscular dystrophy +How to diagnose Duchenne muscular dystrophy ?,"How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13. Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.",GARD,Duchenne muscular dystrophy +What are the treatments for Duchenne muscular dystrophy ?,"How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medications and in severe cases a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night. Physical activity is encouraged for individuals with Duchenne muscular dystrophy. Physical inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself. Steroids are usually given to individuals with Duchenne muscular dystrophy to help improve the strength and function of muscles. There are a few different steroids that can be used to treat DMD: Prednisone is a steroid that has been shown to extend the ability to walk by 2 to 5 years. However, the possible side effects of prednisone include weight gain, high blood pressure, behavior changes, and delayed growth. Deflazacort (another form of prednisone), is used in Europe and believed to have fewer side effects. Oxandrolone, a medication used in a research study, also has similar benefits to prednisone, but with fewer side effects. Cyclosporine has also been used as a treatment for DMD, and has improved muscle function in children. Although, its use is controversial because it can cause myopathy, which is a muscle disease that causes muscle weakness. There are several other therapies that are also being researched, including exon skipping drugs, coenzyme Q10, idebenone, glutamine, and pentoxifylline.",GARD,Duchenne muscular dystrophy +What is (are) Ovarian sex cord tumor with annular tubules ?,"An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor. SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious puberty), irregular menstrual cycles, or post-menopausal bleeding. Most ovarian SCTATs are benign. However, because there is a chance that an SCTAT may be malignant, treatment may include surgery to remove the tumor.",GARD,Ovarian sex cord tumor with annular tubules +What causes Ovarian sex cord tumor with annular tubules ?,"What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene. In these genetic cases, many small SCTATs develop in both ovaries and are almost always benign. The remaining two thirds of ovarian SCTATs are not related to a genetic condition and develop as a single tumor in one ovary; up to 25% of SCTATs in this group may be malignant. Ovarian SCTATs not related to PJS have no known cause and are believed to occur by chance.",GARD,Ovarian sex cord tumor with annular tubules +What is (are) Axenfeld-Rieger syndrome type 1 ?,"Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.",GARD,Axenfeld-Rieger syndrome type 1 +What are the symptoms of Axenfeld-Rieger syndrome type 1 ?,"What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of the abdominal wall - Abnormally prominent line of Schwalbe - Anal atresia - Anal stenosis - Aniridia - Autosomal dominant inheritance - Growth hormone deficiency - Hypodontia - Hypoplasia of the iris - Hypoplasia of the maxilla - Hypospadias - Megalocornea - Microcornea - Polycoria - Prominent supraorbital ridges - Rieger anomaly - Short philtrum - Strabismus - Variable expressivity - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Axenfeld-Rieger syndrome type 1 +How to diagnose Axenfeld-Rieger syndrome type 1 ?,Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. To view the clinical laboratories conducting testing click here.,GARD,Axenfeld-Rieger syndrome type 1 +What are the treatments for Axenfeld-Rieger syndrome type 1 ?,Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Centers of Excellence provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad.,GARD,Axenfeld-Rieger syndrome type 1 +What are the symptoms of Odontomicronychial dysplasia ?,"What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Advanced eruption of teeth 90% Premature loss of primary teeth 90% Autosomal recessive inheritance - Premature eruption of permanent teeth - Short nail - Slow-growing nails - Thin nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Odontomicronychial dysplasia +What is (are) Noonan syndrome 3 ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome 3 +What are the symptoms of Noonan syndrome 3 ?,"What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Atrial septal aneurysm - Autosomal dominant inheritance - Frontal bossing - Hypertelorism - Juvenile myelomonocytic leukemia - Low-set ears - Pulmonic stenosis - Sagittal craniosynostosis - Short nose - Short stature - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan syndrome 3 +What are the treatments for Noonan syndrome 3 ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome 3 +What is (are) Pseudoxanthoma elasticum ?,"Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.",GARD,Pseudoxanthoma elasticum +What are the symptoms of Pseudoxanthoma elasticum ?,"What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudoxanthoma elasticum +How to diagnose Pseudoxanthoma elasticum ?,"What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available. Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.",GARD,Pseudoxanthoma elasticum +What are the treatments for Pseudoxanthoma elasticum ?,"What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders. A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition. Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes. Several therapies may be effective for slowing the reduction in vision in PXE. Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.",GARD,Pseudoxanthoma elasticum +What is (are) Potocki-Lupski syndrome ?,"Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy.",GARD,Potocki-Lupski syndrome +What are the symptoms of Potocki-Lupski syndrome ?,"What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the pharynx 90% Apnea 90% Attention deficit hyperactivity disorder 90% Autism 90% Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Broad forehead 50% EEG abnormality 50% Hypermetropia 50% Scoliosis 50% Triangular face 50% Abnormality of dental morphology 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Dental malocclusion 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Short stature 7.5% Wide mouth 7.5% Hypothyroidism 5% Abnormal renal morphology - Abnormality of the cardiovascular system - Autosomal dominant inheritance - Delayed myelination - Dental crowding - Dysphasia - Echolalia - Expressive language delay - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Generalized hypotonia - High palate - Hyperactivity - Hypocholesterolemia - Hypoplasia of the corpus callosum - Intellectual disability, mild - Language impairment - Mandibular prognathia - Oral-pharyngeal dysphagia - Patent foramen ovale - Phenotypic variability - Poor eye contact - Prominent nasal tip - Receptive language delay - Seizures - Sleep apnea - Small for gestational age - Smooth philtrum - Sporadic - Stereotypic behavior - Trigonocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Potocki-Lupski syndrome +What is (are) Trigeminal neuralgia ?,"Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.",GARD,Trigeminal neuralgia +What are the symptoms of Trigeminal neuralgia ?,"What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Trigeminal neuralgia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trigeminal neuralgia +What are the treatments for Trigeminal neuralgia ?,"How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotrigine, and valproic acid. Gabapentin or baclofen can be used as a second drug to treat trigeminal neuralgia and may be given in combination with other anticonvulsants. Tricyclic antidepressants such as amitriptyline or nortriptyline are used to treat pain described as constant, burning, or aching. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by trigeminal neuralgia. If medication fails to relieve pain or produces intolerable side effects, surgical treatment may be recommended. Several neurosurgical procedures are available to treat trigeminal neuralgia. The choice among the various types depends on the patient's preference, physical well-being, previous surgeries, presence of multiple sclerosis, and area of trigeminal nerve involvement. Some procedures are done on an outpatient basis, while others may involve a more complex operation that is performed under general anesthesia. Some degree of facial numbness is expected after most of these procedures, and trigeminal neuralgia might return despite the procedures initial success. Depending on the procedure, other surgical risks include hearing loss, balance problems, infection, and stroke. A rhizotomy is a procedure in which select nerve fibers are destroyed to block pain. A rhizotomy for trigeminal neuralgia causes some degree of permanent sensory loss and facial numbness. Several forms of rhizotomy are available to treat trigeminal neuralgia: Balloon compression works by injuring the insulation on nerves that are involved with the sensation of light touch on the face. Glycerol injection involves bathing the ganglion (the central part of the nerve from which the nerve impulses are transmitted) and damaging the insulation of trigeminal nerve fibers. Radiofrequency thermal lesioning involves gradually heating part of the nerve with an electrode, injuring the nerve fibers. Stereotactic radiosurgery uses computer imaging to direct highly focused beams of radiation at the site where the trigeminal nerve exits the brainstem. This causes the slow formation of a lesion on the nerve that disrupts the transmission of pain signals to the brain. Microvascular decompression is the most invasive of all surgeries for trigeminal neuralgia, but it also offers the lowest probability that pain will return. While viewing the trigeminal nerve through a microscope, the surgeon moves away the vessels that are compressing the nerve and places a soft cushion between the nerve and the vessels. Unlike rhizotomies, there is usually no numbness in the face after this surgery. A neurectomy, which involves cutting part of the nerve, may be performed during microvascular decompression if no vessel is found to be pressing on the trigeminal nerve. Some patients choose to manage trigeminal neuralgia using complementary techniques, usually in combination with drug treatment. These therapies offer varying degrees of success. Options include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves. More detailed information regarding the management of trigeminal neuralgia can be found through the National Institute of Neurological Disorders and Stroke and eMedicine.",GARD,Trigeminal neuralgia +What is (are) Anaplastic ganglioglioma ?,"Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The main treatment is removal of the entire tumor during surgery. If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy. Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition.",GARD,Anaplastic ganglioglioma +What are the symptoms of Papillary thyroid carcinoma ?,"What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Papillary thyroid carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Papillary thyroid carcinoma +What are the symptoms of Oculocutaneous albinism type 3 ?,"What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Ocular albinism 90% Freckling 50% Strabismus 50% Cutaneous photosensitivity 7.5% Albinism - Autosomal recessive inheritance - Partial albinism - Red hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculocutaneous albinism type 3 +What is (are) Multicentric Castleman Disease ?,"Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is ""systemic"" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more ""localized"" effects). The signs and symptoms of MCD are often nonspecific and blamed on other, more common conditions. They can vary but may include fever; weight loss; fatigue; night sweats; enlarged lymph nodes; nausea and vomiting; and an enlarged liver or spleen. The eact underlying cause is unknown. Treatment may involve immunotherapy, chemotherapy, corticosteroid medications and/or anti-viral drugs.",GARD,Multicentric Castleman Disease +What are the symptoms of Multicentric Castleman Disease ?,"What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigue Shortness of breath Nausea and vomiting Enlarged liver or spleen Peripheral neuropathy Skin abnormalities such as rashes and/or pemphigus Less commonly (<10% of cases), people affected by MCD will have no signs or symptoms of the condition. Other conditions associated with MCD include amyloidosis, POEMS syndrome, autoimmune disease, hemolytic anemia, and immune thrombocytopenic purpura (ITP).",GARD,Multicentric Castleman Disease +What causes Multicentric Castleman Disease ?,"What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6.",GARD,Multicentric Castleman Disease +Is Multicentric Castleman Disease inherited ?,"Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.",GARD,Multicentric Castleman Disease +How to diagnose Multicentric Castleman Disease ?,"How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause similar features: Blood tests can be ordered to evaluate the levels of Interleukin-6 (IL-6) and other substances in the body, which can be elevated in people with MCD. They can also be helpful in ruling out other autoimmune conditions and infections that are associated with similar signs and symptoms Imaging studies (such as a CT scan, PET scan, MRI scan, and/or ultrasound) can help identify enlarged lymph node(s) and other health problems A biopsy of affected tissue, often a lymph node, is usually recommended to confirm the diagnosis",GARD,Multicentric Castleman Disease +What are the treatments for Multicentric Castleman Disease ?,"How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block the action of the interleukin-6 (IL-6), a protein that is produced in excess by the immune system of people with MCD Chemotherapy may be recommended to slow the growth of lymphatic cells Corticosteroid medications can reduce inflammation Anti-viral drugs can block the activity of HHV-8 or HIV (in people who are infected by these viruses)",GARD,Multicentric Castleman Disease +What is (are) Eosinophilic enteropathy ?,"Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis).",GARD,Eosinophilic enteropathy +What are the symptoms of Eosinophilic enteropathy ?,"What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach cramps, bleeding, nausea, vomiting, loss of appetite, blood loss in stools, and choking. Symptoms can occur at any age, although they usually develop between ages 20 and 50 years. The symptoms of eosinophilic enteropathy overlap with other gastrointestinal disorders, such as ulcerative colitis, which makes diagnosis difficult. It is common for individuals with this disorder to have symptoms for many years before an accurate diagnosis is made.",GARD,Eosinophilic enteropathy +How to diagnose Eosinophilic enteropathy ?,"How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number of eosinophils suggests the diagnosis of eosinophilic enteropathy. The pathologist will also look at the location of the eosinophils, changes in the tissue layers, and degranulation (spilling of the contents of the eosinophils). Eosinophils may be normally found in small numbers in all areas of the gastrointestinal tract except the esophagus. However, the number of eosinophils seen in individuals with eosinophilic enteropathy is much higher. Once the diagnosis of eosinophilic enteropathy is confirmed, food allergy testing is typically recommended to guide treatment. Tests for food allergies include skin prick testing, patch testing, and a Radioallergosorbent test (RAST).",GARD,Eosinophilic enteropathy +What are the treatments for Eosinophilic enteropathy ?,"How might eosinophilic enteropathy be treated? There is no ""cure"" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medical problems the child or adult may have. In most cases, dietary restrictions and medications can significantly improve the problematic symptoms of this condition. Food allergy testing is used as a guide for restriction or elimination diets. An elimination diet means strictly avoiding all foods to which the patient has tested positive on allergy testing. Skin and patch testing are used to guide elimination diets. Sometimes a stricter diet, called an elemental diet, is needed. Skin and patch testing are used to guide elimination diets, but it only takes one false negative food for the diet to ""fail"". Elemental diets are diets that do not include whole or broken-down forms of protein. Instead, special elemental formulas are used, which are made of amino acids (the building blocks of proteins), fats, sugars, vitamins and minerals. Amino acids do not cause allergic reactions but whole or partial proteins can. Children and adults who rely in part, or completely, on an elemental amino acid based formula may have a difficult time drinking enough of the formula. To maintain proper nutrition, some require tube feedings directly into the stomach (enteral feeds). In the most severe cases, nutrition is administered directly into the blood stream (parenteral feeds). The American Partnership for Eosinophilic Disorders provides more information about treatment for eosinophilic enteropathy. This organization also provides more details on restricted or elimination diets and elemental diets.",GARD,Eosinophilic enteropathy +What are the symptoms of Pseudohypoparathyroidism type 2 ?,"What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudohypoparathyroidism type 2 +What is (are) Tylosis with esophageal cancer ?,"Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.",GARD,Tylosis with esophageal cancer +What are the symptoms of Tylosis with esophageal cancer ?,"What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Tylosis with esophageal cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the intestine 90% Esophageal neoplasm 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Palmoplantar keratoderma 90% Abnormality of the mediastinum 50% Ascites 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Weight loss 50% Clubbing of toes 7.5% Vocal cord paresis 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Diffuse palmoplantar hyperkeratosis - Esophageal carcinoma - Parakeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tylosis with esophageal cancer +What causes Tylosis with esophageal cancer ?,What causes Tylosis with esophageal cancer? Mutations in the RHBDF2 gene have been shown to cause the development of this condition.,GARD,Tylosis with esophageal cancer +Is Tylosis with esophageal cancer inherited ?,"How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition.",GARD,Tylosis with esophageal cancer +What are the treatments for Tylosis with esophageal cancer ?,"How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical therapies may include soaking in salt water and then gentle removal of dead tissue (debridement) and 50% propylene glycol in water under plastic dressing overnight weekly.",GARD,Tylosis with esophageal cancer +What is (are) Congenital radio-ulnar synostosis ?,"Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; affected individuals often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. It is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of movement.",GARD,Congenital radio-ulnar synostosis +What are the symptoms of Congenital radio-ulnar synostosis ?,"What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital radio-ulnar synostosis +What causes Congenital radio-ulnar synostosis ?,"What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities. In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner. In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.",GARD,Congenital radio-ulnar synostosis +Is Congenital radio-ulnar synostosis inherited ?,"How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome. Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.",GARD,Congenital radio-ulnar synostosis +"What are the symptoms of Nevi flammei, familial multiple ?","What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arteriovenous malformation 90% Hypermelanotic macule 90% Abnormality of the cranial nerves 7.5% Abnormality of the upper limb 7.5% Arrhythmia 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Edema 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Lower limb asymmetry 7.5% Pulmonary embolism 7.5% Scoliosis 7.5% Seizures 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% Autosomal dominant inheritance - Nevus flammeus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nevi flammei, familial multiple" +What is (are) Plasminogen activator inhibitor type 1 deficiency ?,"Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often severe. Prolonged bleeding after surgery is also common. PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.",GARD,Plasminogen activator inhibitor type 1 deficiency +What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ?,"What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Menorrhagia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Plasminogen activator inhibitor type 1 deficiency +What is (are) Leiomyosarcoma ?,"Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved. It is most often found in the uterus or abdomen.",GARD,Leiomyosarcoma +What are the treatments for Leiomyosarcoma ?,"How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. Additional information on the treatment of intestinal leiomyosarcoma is available from Medscape Reference. You may need to register to view this online medical resource, but registration is free",GARD,Leiomyosarcoma +What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ?,"What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Decreased body weight 90% Malabsorption 90% Myopathy 90% Ptosis 90% Skeletal muscle atrophy 90% Abnormality of the mitral valve 7.5% Abdominal distention - Abdominal pain - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - External ophthalmoplegia - Gastroparesis - Malnutrition - Ophthalmoplegia - Peripheral neuropathy - Spontaneous esophageal perforation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial visceral myopathy with external ophthalmoplegia +What is (are) Hypoaldosteronism ?,"Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.",GARD,Hypoaldosteronism +What are the treatments for Hypoaldosteronism ?,How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals with hypoaldosteronism and a deficiency of adrenal glucocorticoid hormones are usually given fludrocortisone. People with hyporeninemic hypoaldosteronism are frequently given furosemide to correct hyperkalemia.,GARD,Hypoaldosteronism +What is (are) Chromosome 4p deletion ?,"Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 4p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 4p deletion +What are the symptoms of Pfeiffer Mayer syndrome ?,"What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the pinna 90% Cognitive impairment 90% Optic atrophy 90% Preaxial hand polydactyly 90% Short stature 90% Chorioretinal coloboma 50% Iris coloboma 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pfeiffer Mayer syndrome +"What are the symptoms of Heart-hand syndrome, Slovenian type ?","What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Heart-hand syndrome, Slovenian type" +What is (are) Chromoblastomycosis ?,"Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually enters the skin through a minor injury such as a splinter. It is most common in areas with tropical and subtropical climates. Treatment of chromoblastomycosis may include medications like itraconazole and flucytosine, cryotherapy, or surgery.",GARD,Chromoblastomycosis +"What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ?","What are the signs and symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal dominant inheritance - Cutis gyrata of scalp - Large hands - Mandibular prognathia - Periostosis - Soft skin - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Acromegaloid changes, cutis verticis gyrata and corneal leukoma" +What is (are) GM1 gangliosidosis type 3 ?,"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.",GARD,GM1 gangliosidosis type 3 +What are the symptoms of GM1 gangliosidosis type 3 ?,"What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the face - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Decreased beta-galactosidase activity - Diffuse cerebral atrophy - Dystonia - Flared iliac wings - Foam cells - Hypoplastic acetabulae - Intellectual disability, mild - Kyphosis - Opacification of the corneal stroma - Platyspondyly - Scoliosis - Short stature - Skeletal muscle atrophy - Slurred speech - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GM1 gangliosidosis type 3 +What is (are) Pachyonychia congenita ?,"Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17. All forms are inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,Pachyonychia congenita +What are the symptoms of Pachyonychia congenita ?,"What are the signs and symptoms of Pachyonychia congenita? The signs and symptoms of pachyonychia congenita (PC) vary based on the specific keratin gene involved (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) and the specific gene mutation. However, the most common features of the condition include: Thickened nails Plantar hyperkeratosis (thickened skin on the soles of the feet) with underlying blisters Plantar pain Various types of cysts (i.e. steatocystoma and pilosebaceous cysts - two types of sebaceous gland cysts) Follicular hyperkeratosis (small bumps at the base of hairs) Leukokeratosis (white patches on the tongue, in the mouth, or on the inside of the cheek) Some affected people may also develop calluses on the palms of the hands (palmar hyperkeratosis), sores at the corner of the mouth; natal teeth; a hoarse cry or voice caused by white film on the larynx (voice box); and/or intense pain when beginning to eat or swallow. For more specific information on the signs and symptoms of PC, including specific features that are not associated with the condition, please visit the Pachyonychia Congenita Project's Web site. The Human Phenotype Ontology provides the following list of signs and symptoms for Pachyonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of nail color 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Hyperhidrosis 90% Abnormal blistering of the skin 50% Anonychia 50% Carious teeth 50% Ichthyosis 50% Neoplasm of the skin 50% Alopecia 7.5% Cataract 7.5% Cognitive impairment 7.5% Corneal dystrophy 7.5% Hepatomegaly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Chapped lip - Dry hair - Epidermoid cyst - Follicular hyperkeratosis - Furrowed tongue - Gingivitis - Heterogeneous - Hoarse voice - Nail dysplasia - Nail dystrophy - Natal tooth - Onychogryposis of toenails - Oral leukoplakia - Palmar hyperkeratosis - Palmoplantar hyperhidrosis - Palmoplantar hyperkeratosis - Palmoplantar keratoderma - Plantar hyperkeratosis - Sparse eyebrow - Sparse scalp hair - Steatocystoma multiplex - Subungual hyperkeratosis - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pachyonychia congenita +What causes Pachyonychia congenita ?,"What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.",GARD,Pachyonychia congenita +Is Pachyonychia congenita inherited ?,"How is pachyonychia congenita inherited? Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PC has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Pachyonychia congenita +How to diagnose Pachyonychia congenita ?,"Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is pachyonychia congenita diagnosed? A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten. Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis.",GARD,Pachyonychia congenita +What are the treatments for Pachyonychia congenita ?,"How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids to help with mobility, such as wheelchairs, crutches and/or canes. Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.",GARD,Pachyonychia congenita +What is (are) Clear cell renal cell carcinoma ?,"Clear cell renal cell carcinoma is a cancer of the kidney. The name ""clear cell"" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.",GARD,Clear cell renal cell carcinoma +What are the treatments for Clear cell renal cell carcinoma ?,"What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib - are approved by the Food and Drug Administration for the treatment of metastatic clear cell renal cell carcinoma. Because a cure for this disease has yet to be discovered, the National Cancer Institute suggests that individuals with metastatic clear cell renal cell carcinoma consider participation in a research study. IL-2 is offered as a treatment for this disease in some individuals because it has been shown to cause a complete disappearance of signs of this disease (remission) in 5% of treated patients. As IL-2 may cause toxic side effects, it is most appropriate for patients who are in excellent health. Sunitinib is offered because it has been shown to stabilize metastatic clear cell renal cell carcinoma by stopping the disease from getting worse. Individuals treated with sunitinib showed no change in their disease for an average of 11 months.",GARD,Clear cell renal cell carcinoma +What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ?,"What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Abnormality of thrombocytes 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Abnormal renal physiology 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Aminoaciduria 50% Diabetes insipidus 50% Hepatomegaly 50% Ichthyosis 50% Malabsorption 50% Muscular hypotonia 50% Oligohydramnios 50% Recurrent fractures 50% Rocker bottom foot 50% Skeletal muscle atrophy 50% Talipes 50% Abnormality of the cardiac septa 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cirrhosis 7.5% Convex nasal ridge 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Nephrolithiasis 7.5% Pectus carinatum 7.5% Sensorineural hearing impairment 7.5% Upslanted palpebral fissure 7.5% Abnormal bleeding 5% Lissencephaly 5% Nephrogenic diabetes insipidus 5% Atria septal defect - Autosomal recessive inheritance - Cholestatic liver disease - Conjugated hyperbilirubinemia - Death in infancy - Dehydration - Elevated hepatic transaminases - Failure to thrive - Giant cell hepatitis - Hip dysplasia - Jaundice - Low-set ears - Metabolic acidosis - Microcephaly - Nephrocalcinosis - Nephropathy - Renal tubular acidosis - Right ventricular hypertrophy - Sloping forehead - Talipes calcaneovalgus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Arthrogryposis renal dysfunction cholestasis syndrome +What are the symptoms of Jansen type metaphyseal chondrodysplasia ?,"What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Craniofacial hyperostosis 90% Frontal bossing 90% Hypertelorism 90% Micromelia 90% Proptosis 90% Abnormality of calcium-phosphate metabolism 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Hypercalcemia 50% Hypoparathyroidism 50% Increased bone mineral density 50% Narrow chest 50% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Bowing of the long bones - Brachycephaly - Choanal atresia - Choanal stenosis - Clubbing of fingers - Elevated alkaline phosphatase - Hip contracture - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Knee flexion contracture - Metaphyseal chondrodysplasia - Metaphyseal cupping - Misalignment of teeth - Nephrocalcinosis - Osteopenia - Pathologic fracture - Prominent supraorbital arches in adult - Severe short stature - Short long bone - Short ribs - Thick skull base - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jansen type metaphyseal chondrodysplasia +What is (are) Pendred syndrome ?,"Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.",GARD,Pendred syndrome +What are the symptoms of Pendred syndrome ?,"What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pendred syndrome +Is Pendred syndrome inherited ?,"How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition. Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.",GARD,Pendred syndrome +What are the symptoms of Van Buchem disease type 2 ?,"What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Mandibular prognathia - Thickened calvaria - Thickened cortex of long bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Van Buchem disease type 2 +What is (are) Chronic intestinal pseudoobstruction ?,"Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene. The diagnosis of CIPO is clinical and other conditions with similar symptoms should be ruled out. Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds.",GARD,Chronic intestinal pseudoobstruction +What are the symptoms of Chronic intestinal pseudoobstruction ?,"What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intestinal malrotation 50% Morphological abnormality of the central nervous system 50% Pyloric stenosis 50% Abnormality of thrombocytes 7.5% Patent ductus arteriosus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic intestinal pseudoobstruction +What are the symptoms of Optic atrophy 2 ?,"What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy 2 +"What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ?","What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" +What are the symptoms of Congenital alopecia X-linked ?,"What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital alopecia X-linked +What is (are) Cerebellar degeneration ?,"Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.",GARD,Cerebellar degeneration +What are the symptoms of Cerebellar degeneration ?,"What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.",GARD,Cerebellar degeneration +What causes Cerebellar degeneration ?,"What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.",GARD,Cerebellar degeneration +Is Cerebellar degeneration inherited ?,"Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.",GARD,Cerebellar degeneration +How to diagnose Cerebellar degeneration ?,"How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known. In cerebellar degeneration caused by acquired (non-genetic and non-inherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration. Is genetic testing available for cerebellar degeneration? Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration. For more information on genetic testing for SCA, please click here. For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited). Genetic testing is not an option for people with these conditions.",GARD,Cerebellar degeneration +What are the treatments for Cerebellar degeneration ?,"How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause. For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.",GARD,Cerebellar degeneration +What are the symptoms of 17-alpha-hydroxylase deficiency ?,"What are the signs and symptoms of 17-alpha-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-alpha-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Gynecomastia - Hypertension - Hypokalemic alkalosis - Male pseudohermaphroditism - Primary amenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,17-alpha-hydroxylase deficiency +What are the symptoms of Deafness enamel hypoplasia nail defects ?,"What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental enamel 90% Abnormality of nail color 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Diabetes mellitus 90% Pili torti 90% Sensorineural hearing impairment 90% Taurodontia 90% Arrhythmia 50% Large hands 50% Primary amenorrhea 50% Round face 50% Short stature 50% Acanthosis nigricans 7.5% Camptodactyly of finger 7.5% Cerebral calcification 7.5% Delayed skeletal maturation 7.5% High anterior hairline 7.5% Ichthyosis 7.5% Muscle weakness 7.5% Peripheral neuropathy 7.5% Macular dystrophy 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Hypoplasia of dental enamel - Leukonychia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness enamel hypoplasia nail defects +What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal atrioventricular conduction - Atrioventricular block - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal loss - Central hypoventilation - Chronic diarrhea - Chronic sensorineural polyneuropathy - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Dementia - Distal amyotrophy - Enhanced neurotoxicity of vincristine - Gliosis - Hyperhidrosis - Hyperreflexia - Nausea - Orthostatic hypotension - Parkinsonism - Penetrating foot ulcers - Peroneal muscle atrophy - Peroneal muscle weakness - Pes cavus - Ptosis - Sensory neuropathy - Trophic limb changes - Vomiting - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease with ptosis and parkinsonism +What is (are) Chordoma ?,"A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas can occur anywhere along the spine. Approximately half of all chordomas occur at the base of the spine; approximately one third occur at the base of the skull. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma at the base of the skull may lead to double vision and headaches. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. Chordomas typically occur in adults between the ages of 40 and 70. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordoma in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing chordoma. People with this inherited duplication inherit an increased risk for the condition, not the condition itself.",GARD,Chordoma +What are the symptoms of Chordoma ?,"What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Abnormality of the vertebral column - Autosomal dominant inheritance - Chordoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chordoma +What are the treatments for Chordoma ?,"How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tumor that may be removed, depends on the location of the tumor and how close it is to critical structures in the brain. Surgery is followed by radiation therapy to destroy any cancer cells that may remain after surgery. Several studies have suggested that proton beam radiation or combined proton/photon radiation may be more effect than conventional photon radiation therapy for treating chordomas of the skull base because proton radiation may allow for a greater dose of radiation to be delivered to the tumor without damaging the surrounding normal tissues. Approximately 60-70% of individuals treated with combined surgery and radiation therapy remained tumor-free for at least five years.",GARD,Chordoma +What are the symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita ?,"What are the signs and symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth type 1 aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Skull defect 3/3 Aplasia cutis congenita of scalp - Motor axonal neuropathy - Sensory axonal neuropathy - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth type 1 aplasia cutis congenita +What is (are) Pseudopelade of Brocq ?,"Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP). Some have suggested abandoning the use of the term pseudopelade of Brocq while others think that the term should be strictly used to describe patients that follow the pattern of hair loss described by Brocq et al.(i.e., multiple, small, discrete, asymmetrical, smooth, soft, flesh-colored or white patches of hair loss with little, if any, inflammation). Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Some individuals with PBB have been found to have Borrelia burgdorferi, the bacterium that causes Lyme disease. Neither an effective treatment nor cure is currently available.",GARD,Pseudopelade of Brocq +What are the symptoms of Pseudopelade of Brocq ?,"What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Hypertrichosis 90% Lichenification 90% Skin ulcer 50% Abnormality of the nail 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cheilitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudopelade of Brocq +What are the treatments for Pseudopelade of Brocq ?,"Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. Various forms of corticosteroids have been tried, including injections or skin lotions or creams. Surgery such as hair transplant or scalp reduction might be considered in patients whose condition has remained stable for two or more years.",GARD,Pseudopelade of Brocq +What is (are) Lentigo maligna melanoma ?,"Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.",GARD,Lentigo maligna melanoma +What are the symptoms of Congenital lipoid adrenal hyperplasia ?,"What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenogenital syndrome - Autosomal recessive inheritance - Congenital adrenal hyperplasia - Hypospadias - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital lipoid adrenal hyperplasia +What is (are) Renal oncocytoma ?,"Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass. Although these tumors can occur in people of all ages, they most commonly develop in men who are over age 50. The exact underlying cause of most isolated (single tumor affecting one kidney) renal oncocytomas is unknown; however, multiple and bilateral (affecting both kidneys) renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma. Most affected people are, therefore, treated with surgery which allows for confirmation of the diagnosis.",GARD,Renal oncocytoma +What are the symptoms of Renal oncocytoma ?,"What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. In about a third of cases, people with renal oncocytoma will present with abdominal or flank pain; blood in the urine; and/or an abdominal mass. Affected people usually have a single, unilateral (only affecting one kidney) renal oncocytoma. However, multiple, bilateral (affecting both kidneys) tumors have rarely been reported in people with tuberous sclerosis complex and Birt-Hogg-Dube syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Renal oncocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Mitochondrial inheritance - Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal oncocytoma +What causes Renal oncocytoma ?,"What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. In these cases, affected people often have multiple and bilateral (affecting both kidneys) oncocytomas and may also have family members with these tumors. When renal oncocytomas are part of a genetic syndrome, they are caused by changes (mutations) in a specific gene. Tuberous sclerosis complex is caused by mutations in the TSC1 gene or TSC2 gene, while Birt-Hogg-Dube syndrome is caused by mutations in the FLCN gene.",GARD,Renal oncocytoma +Is Renal oncocytoma inherited ?,"Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Both of these conditions are inherited in an autosomal dominant manner.",GARD,Renal oncocytoma +How to diagnose Renal oncocytoma ?,"How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. Although researchers are currently studying several new techniques for the diagnosis of renal oncocytoma, a biopsy and surgery are typically necessary to confirm the diagnosis. Is genetic testing available for renal oncocytoma? Genetic testing is not available for many people with renal oncocytoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to renal oncocytoma such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for tuberous sclerosis complex and Birt-Hogg-Dube syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Renal oncocytoma +What are the treatments for Renal oncocytoma ?,"How might renal oncocytoma be treated? Most renal oncocytomas are benign (non-cancerous) and metastasis is very rare. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma based on diagnostic imaging tests alone. Most people are, therefore, treated with surgery which allows for confirmation of the diagnosis. If a renal oncocytoma is strongly suspected prior to surgery, a more conservative procedure such as a partial nephrectomy, may be performed.",GARD,Renal oncocytoma +What is (are) Factor XIII deficiency ?,"Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.",GARD,Factor XIII deficiency +What are the symptoms of Factor XIII deficiency ?,"What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII deficiency may bleed from the umbilical cord, which rarely occurs in other blood clotting disorders. The most serious hemorrhaging that can occur in Factor XIII deficiency is in the central nervous system (i.e., brain and spinal cord) following mild head trauma. This can occur in about 25 percent of affected individuals. In some cases, hemorrhaging may stop spontaneously without treatment. Females with Factor XIII deficiency who become pregnant are at high risk for miscarriage if they do not receive appropriate treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria).Some symptoms are seldom or never seen in people with Factor XIII deficiency, which may help to distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, excessive bleeding after surgery, bleeding from mucous membranes, and/or tiny red spots on the skin. Factor XIII deficiency is not generally a threat to those who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents bleeding. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications. The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XIII deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal umbilical stump bleeding - Autosomal recessive inheritance - Bruising susceptibility - Congenital onset - Epistaxis - Intracranial hemorrhage - Joint hemorrhage - Prolonged bleeding after surgery - Reduced factor XIII activity - Spontaneous hematomas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Factor XIII deficiency +What are the treatments for Factor XIII deficiency ?,"How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII. People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available.",GARD,Factor XIII deficiency +What are the symptoms of Stratton-Garcia-Young syndrome ?,"What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the mitral valve 90% Abnormality of the palate 90% Abnormality of the shoulder 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Hernia of the abdominal wall 90% Long thorax 90% Micromelia 90% Reduced number of teeth 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stratton-Garcia-Young syndrome +What are the symptoms of Dystonia 19 ?,"What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorea - Dyskinesia - Dystonia - Paroxysmal dyskinesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 19 +What are the symptoms of Varicella virus antenatal infection ?,"What are the signs and symptoms of Varicella virus antenatal infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Varicella virus antenatal infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atypical scarring of skin 90% Intrauterine growth retardation 90% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Microcephaly 50% Micromelia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Varicella virus antenatal infection +What is (are) Primary gastrointestinal melanoma ?,"Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.",GARD,Primary gastrointestinal melanoma +What are the symptoms of Primary gastrointestinal melanoma ?,"What are the symptoms of primary melanoma of the small intestine? Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count).",GARD,Primary gastrointestinal melanoma +What causes Primary gastrointestinal melanoma ?,"What causes primary melanoma of the small intestine? The cause of primary melanoma of the small intestine is currently unknown. Theories include that the cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own; that the cancer originated from a primary tumor that is so small it can not be detected using standard clinical and laboratory investigations; lastly, because melanocytes are not normally found in the stomach, a final theory is that the melanocytes are in the stomach because early melanocyte cells lost their way during the development of the baby in the womb, and that these misplaced cells later became cancerous.",GARD,Primary gastrointestinal melanoma +How to diagnose Primary gastrointestinal melanoma ?,"How might primary melanoma of the small intestine be diagnosed? A variety of tests may be involved in the initial diagnosis of the tumor, including contrast radiography, endoscopy, and CT scan. The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the same immunohistochemical characteristics of skin melanomas. Once this has been established, the following are proposed diagnostic criteria for primary melanoma of the small intestine: 1. The absence of a previous or synchronously resected melanoma or atypical melanocytic lesion of the skin. 2. The absence of metastatic spread to other organs. 3. The presence of intramucosal lesions of the overlying or adjacent intestinal mucosa.",GARD,Primary gastrointestinal melanoma +What are the treatments for Primary gastrointestinal melanoma ?,How might primary melanoma of the small intestine be treated? Treatment of primary melanoma of the small intestine often involves the surgical resection of the tumor. We encourage you to speak with your healthcare provider to learn more about your surgical and other treatment options.,GARD,Primary gastrointestinal melanoma +What are the symptoms of Nelson syndrome ?,"What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nelson syndrome +What is (are) Mitochondrial complex II deficiency ?,"Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.",GARD,Mitochondrial complex II deficiency +What are the symptoms of Mitochondrial complex II deficiency ?,"What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation is involved. Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, or SDHAF2 genes can all potentially cause complex II deficiency. Much of what we know today about the signs and symptoms of complex II deficiency are based on articles which describe individual patients. Due to the rarity of this condition and the complexity of its cause, it is very difficult to predict how a person will be affected. We strongly recommend that you work with your or your childs healthcare provider to learn more about how the deficiency is affecting your or your childs health. In the meantime, we have summarized symptoms of complex II deficiency which have been described in case reports: Inheriting two SDHA gene mutations has caused myoclonic seizures and Leighs syndrome. Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of people develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. Inheriting two SDHB gene mutations can cause leukodystrophy. Leukodystrophies affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with movement, speaking, vision, hearing, and mental and physical development. Most of the leukodystrophies appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. Click here to visit MedlinePlus.gov and learn more about leukodystprohy. Inheriting two SDHAF1 gene mutations can cause severe progressive leukoencephalopathy beginning in infancy. Leukoencephalopathy refers to the degeneration of the white matter of the brain. It is usually diagnosed by MRI. It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. Signs and symptoms may begin in infancy and progress through childhood. Complex II deficiency has also been described in association with dilated cardiomyopathy (and heart failure in childhood), hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy (a disorder affecting the brain and skeletal muscle, usually causing weakness) with dementia, and KearnsSayre syndrome. Case reports have also demonstrated that people who have only a single mutation in one of these genes may also be at risk for health problems: Having one SDHA gene mutation caused optic atrophy, ataxia, proximal myopathy in adulthood. Having one mutation in the SDHA, SDHB, SDHC, SDHAF2, or SDHD gene can cause an increased risk for paragangliomas and/or pheochromocytomas. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex II deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal mitochondria in muscle tissue - Ataxia - Autosomal recessive inheritance - Babinski sign - Cognitive impairment - Decreased activity of mitochondrial complex II - Developmental regression - Dilated cardiomyopathy - Dystonia - Exercise intolerance - Flexion contracture - Hyperreflexia - Hypertrophic cardiomyopathy - Increased intramyocellular lipid droplets - Increased serum lactate - Infantile onset - Leukoencephalopathy - Muscle weakness - Myoclonus - Neonatal hypotonia - Nystagmus - Ophthalmoplegia - Optic atrophy - Phenotypic variability - Pigmentary retinopathy - Progressive leukoencephalopathy - Ptosis - Ragged-red muscle fibers - Seizures - Short stature - Spasticity - Stress/infection-induced lactic acidosis - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial complex II deficiency +Is Mitochondrial complex II deficiency inherited ?,"What causes mitochondrial complex II deficiency? Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency is inherited in an autosomal recessive fashion. This means that a person must inherit a gene mutation from both their mother and father in order to develop complex II deficiency. People who have a single mutation are called carriers. Carriers of complex II deficiency may be at an increased risk for certain health problems, including for paragangliomas and/or pheochromocytomas.[8676]",GARD,Mitochondrial complex II deficiency +What are the treatments for Mitochondrial complex II deficiency ?,How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.,GARD,Mitochondrial complex II deficiency +What are the symptoms of Glycogen storage disease type 12 ?,"What are the signs and symptoms of Glycogen storage disease type 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 7.5% Myopathy 7.5% Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Delayed puberty - Epicanthus - Jaundice - Low posterior hairline - Nonspherocytic hemolytic anemia - Normochromic anemia - Normocytic anemia - Ptosis - Short neck - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 12 +What are the symptoms of Jervell and Lange-Nielsen syndrome 2 ?,"What are the signs and symptoms of Jervell and Lange-Nielsen syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell and Lange-Nielsen syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Prolonged QT interval - Sensorineural hearing impairment - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jervell and Lange-Nielsen syndrome 2 +What are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ?,"What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior scalloping of vertebral bodies - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Brachydactyly syndrome - Carpal bone hypoplasia - Coarse facial features - Cubitus valgus - Cuboid-shaped vertebral bodies - Curly eyelashes - Delayed epiphyseal ossification - Depressed nasal bridge - Flexion contracture - High pitched voice - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac wing - Long philtrum - Malar flattening - Microtia - Pectus excavatum - Platyspondyly - Postnatal growth retardation - Restrictive lung disease - Rhizo-meso-acromelic limb shortening - Round face - Short foot - Short long bone - Short metacarpal - Short neck - Short palm - Short phalanx of finger - Short toe - Single interphalangeal crease of fifth finger - Small epiphyses - Spondyloepiphyseal dysplasia - Tapered metacarpals - Tapered phalanx of finger - Thick lower lip vermilion - Thick upper lip vermilion - Thoracic hypoplasia - Upslanted palpebral fissure - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech +What are the symptoms of Diffuse cutaneous mastocytosis ?,"What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Mastocytosis 90% Abnormality of skin pigmentation 50% Hypotension 50% Impaired temperature sensation 50% Pruritus 50% Subcutaneous hemorrhage 50% Thickened skin 50% Urticaria 50% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Immunologic hypersensitivity 7.5% Leukemia 7.5% Malabsorption 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse cutaneous mastocytosis +What are the symptoms of Mesomelic dysplasia Savarirayan type ?,"What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Bowing of the long bones 90% Micromelia 90% Short stature 90% Skeletal dysplasia 90% Sprengel anomaly 90% Cognitive impairment 50% Elbow dislocation 50% Abnormality of the foot - Abnormality of the thorax - Autosomal dominant inheritance - Delayed closure of the anterior fontanelle - Dislocated radial head - Fibular aplasia - Hip dislocation - Mesomelia - Short tibia - Talipes equinovalgus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mesomelic dysplasia Savarirayan type +What are the symptoms of Autosomal dominant optic atrophy and cataract ?,"What are the signs and symptoms of Autosomal dominant optic atrophy and cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy and cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Cataract - Optic atrophy - Reduced visual acuity - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant optic atrophy and cataract +What are the symptoms of Marden Walker like syndrome ?,"What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyebrow 90% Abnormality of the ribs 90% Arachnodactyly 90% Blepharophimosis 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Convex nasal ridge 90% Depressed nasal bridge 90% Disproportionate tall stature 90% Hallux valgus 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Macrotia 90% Narrow nasal bridge 90% Abnormality of dental morphology 50% Bowing of the long bones 50% Delayed skeletal maturation 50% Elbow dislocation 50% Hypertelorism 50% Limitation of joint mobility 50% Slender long bone 50% Triphalangeal thumb 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Laryngomalacia 7.5% Talipes 7.5% Sclerocornea 5% Autosomal recessive inheritance - Camptodactyly of toe - Craniosynostosis - Dental crowding - Dislocated radial head - Distal ulnar hypoplasia - Elbow flexion contracture - Femoral bowing - Glenoid fossa hypoplasia - High palate - Hypoplasia of the maxilla - Joint contracture of the hand - Knee flexion contracture - Lateral clavicle hook - Long hallux - Long metacarpals - Malar flattening - Narrow foot - Narrow nose - Pectus excavatum - Protruding ear - Single umbilical artery - Slender metacarpals - Stridor - Talipes equinovarus - Thin ribs - Ulnar bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marden Walker like syndrome +What are the symptoms of Familial tumoral calcinosis ?,"What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Chondrocalcinosis 90% Hyperphosphatemia 90% Hyperostosis 50% Osteomyelitis 50% Skin rash 50% Abnormality of the palate 7.5% Abnormality of the teeth 7.5% Abnormality of the voice 7.5% Arteriovenous malformation 7.5% Gingivitis 7.5% Hepatomegaly 7.5% Hyperhidrosis 7.5% Hypopigmented skin patches 7.5% Inflammatory abnormality of the eye 7.5% Neoplasm of the skin 7.5% Nephrocalcinosis 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial tumoral calcinosis +What are the symptoms of Ichthyosis prematurity syndrome ?,"What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ichthyosis 90% Premature birth 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis prematurity syndrome +What is (are) Wilson disease ?,"Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.",GARD,Wilson disease +What are the symptoms of Wilson disease ?,"What are the signs and symptoms of Wilson disease? Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling of the legs and/or abdomen; weight loss; nausea and vomiting; and/or fatigue. Unfortunately, some people may not experience any signs until they suddenly develop acute liver failure. Affected people often experience a variety of neurologic (central nervous system-related) signs and symptoms, as well. Neurologic features often develop after the liver has retained a significant amount of copper; however, they have been seen in people with little to no liver damage. These symptoms may include tremors; muscle stiffness; and problems with speech, swallowing and/or physical coordination. Almost all people with neurologic symptoms have Kayser-Fleisher rings - a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp. About a third of those with Wilson disease will also experience psychiatric (mental health-related) symptoms such as abrupt personality changes, depression accompanied by suicidal thoughts, anxiety, and/or psychosis. Other signs and symptoms may include: Menstrual period irregularities, increased risk of miscarriage and infertility in women Anemia Easy bruising and prolonged bleeding Kidney stones Early-onset arthritis Osteoporosis The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kayser-Fleischer ring 90% Polyneuropathy 5% Aminoaciduria - Atypical or prolonged hepatitis - Autosomal recessive inheritance - Chondrocalcinosis - Cirrhosis - Coma - Dementia - Drooling - Dysarthria - Dysphagia - Dystonia - Esophageal varix - Glycosuria - Hemolytic anemia - Hepatic failure - Hepatomegaly - High nonceruloplasmin-bound serum copper - Hypercalciuria - Hyperphosphaturia - Hypoparathyroidism - Joint hypermobility - Mixed demyelinating and axonal polyneuropathy - Nephrolithiasis - Osteoarthritis - Osteomalacia - Osteoporosis - Personality changes - Poor motor coordination - Proteinuria - Renal tubular dysfunction - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wilson disease +What causes Wilson disease ?,"What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.",GARD,Wilson disease +Is Wilson disease inherited ?,"Is Wilson disease inherited? Wilson disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Wilson disease +What are the treatments for Wilson disease ?,"How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary. For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.",GARD,Wilson disease +What is (are) Crystal arthropathies ?,"Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropathy which is a rare cause of arthritis characterized by deposition of calcium oxalate crystals within synovial fluid and typically occurs in patients with underlying primary or secondary hyperoxaluria. These crystals are responsible for different rheumatic syndromes, including acute or chronic synovial inflammation and cartilage degeneration. Treatment depends on the specific condition.",GARD,Crystal arthropathies +What is (are) Lung adenocarcinoma ?,"Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood, loss of appetite, unexplained weight loss, shortness of breath, and/or wheezing. The underlying cause of lung adenocarcinoma is generally unknown; however, risk factors for developing a lung cancer include smoking; exposure to secondhand smoke and other toxic chemicals; a family history of lung cancer; previous radiation treatment to the chest or breast; and HIV infection. Treatment varies based on the severity of the condition, the associated signs and symptoms and the affected person's overall health. It may include a combination of surgery, radiation therapy, chemotherapy, targeted therapy, and/or watchful waiting.",GARD,Lung adenocarcinoma +What are the symptoms of Lung adenocarcinoma ?,"What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alveolar cell carcinoma - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lung adenocarcinoma +What is (are) Galactosialidosis ?,"Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.",GARD,Galactosialidosis +What are the symptoms of Galactosialidosis ?,"What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coarse.' Some infants have an enlarged heart; an eye abnormality called a cherry-red spot (identified through an eye examination); and kidney disease that can progress to kidney failure. Infants with this form are usually diagnosed between birth and 3 months of age. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and 'coarse' facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms within the first year of life. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different than those of the other two types. This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, 'coarse' facial features, a cherry-red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. The Human Phenotype Ontology provides the following list of signs and symptoms for Galactosialidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Coarse facial features 90% Cognitive impairment 90% Hearing impairment 90% Opacification of the corneal stroma 90% Seizures 90% Short stature 90% Skeletal dysplasia 90% Hepatosplenomegaly 7.5% Autosomal recessive inheritance - Cherry red spot of the macula - Conjunctival telangiectasia - Decreased beta-galactosidase activity - Dysostosis multiplex - Hemangioma - Intellectual disability - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Galactosialidosis +What causes Galactosialidosis ?,"What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.",GARD,Galactosialidosis +Is Galactosialidosis inherited ?,"How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Galactosialidosis +What are the treatments for Galactosialidosis ?,"How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment.",GARD,Galactosialidosis +What is (are) Febrile infection-related epilepsy syndrome ?,"Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.",GARD,Febrile infection-related epilepsy syndrome +What are the symptoms of Febrile infection-related epilepsy syndrome ?,"What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Febrile infection-related epilepsy syndrome +What are the symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski ?,"What are the signs and symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of long bone morphology - Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Growth delay - Recurrent respiratory infections - Short finger - Short toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteodysplasty precocious of Danks Mayne and Kozlowski +What are the symptoms of Familial hypocalciuric hypercalcemia type 2 ?,"What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nephrolithiasis 5% Peptic ulcer 5% Chondrocalcinosis - Hypercalcemia - Hypermagnesemia - Hypocalciuria - Multiple lipomas - Pancreatitis - Parathormone-independent increased renal tubular calcium reabsorption - Primary hyperparathyroidism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hypocalciuric hypercalcemia type 2 +What are the symptoms of D-glycericacidemia ?,"What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 5% Aminoaciduria - Autosomal recessive inheritance - Cerebral cortical atrophy - Delayed myelination - Encephalopathy - Failure to thrive - Growth delay - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Metabolic acidosis - Microcephaly - Muscular hypotonia of the trunk - Myoclonus - Neonatal hypotonia - Nonketotic hyperglycinemia - Opisthotonus - Phenotypic variability - Seizures - Spastic tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,D-glycericacidemia +What are the symptoms of Transcobalamin 1 deficiency ?,"What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Paresthesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transcobalamin 1 deficiency +What is (are) Ocular cicatricial pemphigoid ?,"Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.",GARD,Ocular cicatricial pemphigoid +What are the symptoms of Ocular cicatricial pemphigoid ?,"What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Autoimmunity 90% Inflammatory abnormality of the eye 90% Abnormality of reproductive system physiology 50% Atypical scarring of skin 50% Gingivitis 50% Opacification of the corneal stroma 7.5% Visual impairment 7.5% Abnormality of the eye - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ocular cicatricial pemphigoid +What are the symptoms of Lambdoid synostosis ?,"What are the signs and symptoms of Lambdoid synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lambdoid synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Craniosynostosis 90% Plagiocephaly 90% External ear malformation 50% Frontal bossing 50% Muscular hypotonia 50% Blepharophimosis 7.5% Chin dimple 7.5% Cognitive impairment 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hydrocephalus 7.5% Hypertonia 7.5% Round ear 7.5% Telecanthus 7.5% Macrocephaly 5% Pansynostosis 5% Short nose 5% Autosomal dominant inheritance - Flat occiput - Hypoplasia of midface - Lambdoidal craniosynostosis - Malar flattening - Posterior plagiocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lambdoid synostosis +What are the symptoms of Pilodental dysplasia with refractive errors ?,"What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental morphology 90% Anteverted nares 90% Hypermetropia 90% Hypohidrosis 90% Irregular hyperpigmentation 90% Long philtrum 90% Myopia 90% Reduced number of teeth 90% Thin vermilion border 90% Astigmatism 50% Hyperkeratosis 50% Cognitive impairment 7.5% Abnormality of the nail - Autosomal recessive inheritance - Brittle hair - Conical incisor - Ectodermal dysplasia - Follicular hyperkeratosis - Hypodontia - Reticular hyperpigmentation - Sparse scalp hair - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pilodental dysplasia with refractive errors +What are the symptoms of Holocarboxylase synthetase deficiency ?,"What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Behavioral abnormality 90% Cheilitis 90% Cognitive impairment 90% Hearing impairment 90% Hypertrichosis 90% Inflammatory abnormality of the eye 90% Muscular hypotonia 90% Nausea and vomiting 90% Reduced consciousness/confusion 90% Seizures 90% Skin rash 90% Weight loss 90% Abnormal pattern of respiration 50% Hyperammonemia 50% Respiratory insufficiency 50% Alopecia 7.5% Dry skin 7.5% Incoordination 7.5% Thrombocytopenia 7.5% Autosomal recessive inheritance - Coma - Feeding difficulties in infancy - Hypertonia - Hyperventilation - Irritability - Lethargy - Metabolic acidosis - Organic aciduria - Tachypnea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Holocarboxylase synthetase deficiency +What is (are) Michelin tire baby syndrome ?,"Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows. MTBS may be associated with other signs, such as unusual facial features or delays in development; these other features are different for each affected individual. The exact cause of MTBS is unknown. It has been suggested that MTBS might have a genetic cause, because there are reports of multiple affected members of the same family.",GARD,Michelin tire baby syndrome +What are the symptoms of Michelin tire baby syndrome ?,"What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Michelin tire baby syndrome +What are the symptoms of Bartter syndrome type 3 ?,"What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypocalciuria 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Dehydration - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperchloridura - Hypokalemia - Hypokalemic metabolic alkalosis - Hypotension - Impaired reabsorption of chloride - Increased circulating renin level - Increased urinary potassium - Polyuria - Renal potassium wasting - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bartter syndrome type 3 +What is (are) Russell-Silver syndrome ?,"Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.",GARD,Russell-Silver syndrome +What are the symptoms of Russell-Silver syndrome ?,"What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular face; and small, narrow chin) arms and legs of different lengths cafe-au-lait spots (birth marks) delayed bone age gastroesophageal reflux disease kidney problems ""stubby"" fingers and toes developmental delay learning disabilities The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blue sclerae 90% Clinodactyly of the 5th finger 90% Decreased body weight 90% Downturned corners of mouth 90% Intrauterine growth retardation 90% Short stature 90% Triangular face 90% Asymmetric growth 50% Delayed skeletal maturation 50% Hypoglycemia 50% Thin vermilion border 50% Abnormality of the cardiovascular system 7.5% Abnormality of the urinary system 7.5% Cognitive impairment 7.5% Precocious puberty 7.5% Abnormality of the foot - Abnormality of the ureter - Cafe-au-lait spot - Congenital posterior urethral valve - Craniofacial disproportion - Craniopharyngioma - Delayed cranial suture closure - Fasting hypoglycemia - Frontal bossing - Growth hormone deficiency - Hepatocellular carcinoma - Hypospadias - Nephroblastoma (Wilms tumor) - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Small for gestational age - Sporadic - Syndactyly - Testicular seminoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Russell-Silver syndrome +What causes Russell-Silver syndrome ?,"What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is ""turned on,"" or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown.",GARD,Russell-Silver syndrome +Is Russell-Silver syndrome inherited ?,"Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means that having one ""copy"" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change. In other families, the condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier",GARD,Russell-Silver syndrome +What is (are) Central core disease ?,"Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat. RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.",GARD,Central core disease +What are the symptoms of Central core disease ?,"What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 90% Myopathy 90% Malignant hyperthermia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital hip dislocation - Fever - Flexion contracture - Generalized muscle weakness - Infantile onset - Kyphoscoliosis - Motor delay - Nemaline bodies - Neonatal hypotonia - Nonprogressive - Pes planus - Phenotypic variability - Skeletal muscle atrophy - Slow progression - Type 1 muscle fiber predominance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Central core disease +How to diagnose Central core disease ?,"How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.",GARD,Central core disease +What are the treatments for Central core disease ?,"What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial. Physical therapy, such as stretching or low-impact exercises, may help improve weakness. Some skeletal abnormalities can be addressed with physical therapy, though others may require surgery. As the muscle weakness and scoliosis associated with CCD can affect breathing, individuals diagnosed with this condition may benefit from pulmonary function tests. If breathing is significantly affected, breathing exercises or other breathing support treatments may be recommended. Another treatment option may be a medication called salbutamol, which was found to significantly increased muscle strength and stamina in six of eight children with CCD.",GARD,Central core disease +What is (are) Reactive arthritis ?,"Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). These symptoms may occur alone, together, or not at all. The symptoms of reactive arthritis usually last 3 to 12 months, although symptoms can return or develop into a long-term disease in a small percentage of people. The exact cause of reactive arthritis is unknown. It may follow an infection with Salmonella enteritidis, Salmonella typhimurium, Yersinia enterocolitica, Campylobacter jejuni, Clostridium difficile, Shigella sonnei, Entamoeba histolytica, Cryptosporidium, or Chlamydia trachomatis. Certain genes may make you more prone to the syndrome. For instance, the condition is observed more commonly in patients with human lymphocyte antigen B27 (HLA-B27) histocompatibility antigens. The goal of treatment is to relieve symptoms and treat any underlying infection. Antibiotics may be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDS), pain relievers, and corticosteroids may be recommended for those with joint pain.",GARD,Reactive arthritis +What are the symptoms of Reactive arthritis ?,"What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the oral cavity 90% Abnormality of the urethra 90% Arthralgia 90% Arthritis 90% Cartilage destruction 90% Enthesitis 90% Hyperkeratosis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Limitation of joint mobility 90% Malabsorption 90% Osteomyelitis 90% Pustule 90% Abdominal pain 50% Abnormality of the pleura 50% Inflammation of the large intestine 50% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Photophobia 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reactive arthritis +What is (are) Hereditary leiomyomatosis and renal cell cancer ?,"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.",GARD,Hereditary leiomyomatosis and renal cell cancer +What are the symptoms of Hereditary leiomyomatosis and renal cell cancer ?,"What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and extremities, and occasionally on the face. They usually increase in size and number with age. They may be more sensitive than the surrounding skin and be painful. Uterine leiomyomata (fibroids) also occur in almost all affected women and tend to be large and numerous. Most women with these have irregular or heavy periods and pelvic pain. A renal tumor occurs in about 10% to 16% of affected individuals (at an average age of 44 years) and may cause blood in the urine, lower back pain, and a palpable mass. Some people with renal cell cancer have no symptoms until the cancer is advanced. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary leiomyomatosis and renal cell cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature 90% Neoplasm of the skin 90% Pruritus 50% Cataract 7.5% Esophageal neoplasm 7.5% Uterine neoplasm 7.5% Vaginal neoplasm 7.5% Cutaneous leiomyosarcoma 5% Autosomal dominant inheritance - Cutaneous leiomyoma - Decreased fumarate hydratase activity - Incomplete penetrance - Multiple cutaneous leiomyomas - Renal cell carcinoma - Uterine leiomyoma - Uterine leiomyosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary leiomyomatosis and renal cell cancer +What causes Hereditary leiomyomatosis and renal cell cancer ?,"What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the gene in some cells can mutate later on from factors in the environment, such as radiation from the sun or an error during cell division. A mutation can interfere with fumarase's role in the citric acid cycle, which may affect the regulation of oxygen levels in cells. Long-term oxygen deficiency in cells with two mutated copies of the FH gene may contribute to tumors growth and the tendency to develop leiomyomas and/or renal cell cancer.",GARD,Hereditary leiomyomatosis and renal cell cancer +Is Hereditary leiomyomatosis and renal cell cancer inherited ?,"How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. Other cases result from new mutations in the gene and that occur for the first time in in the affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene. This is the case regardless of which parent has the condition.",GARD,Hereditary leiomyomatosis and renal cell cancer +What are the treatments for Hereditary leiomyomatosis and renal cell cancer ?,"How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or medications such as calcium channel blockers, alpha blockers, nitroglycerin, antidepressants, and/or antiepileptic drugs (AEDs), which have been reported to reduce pain. Uterine fibroids should be evaluated by a gynecologist. These are typically treated in the same manner as those that occur in the general population. However, most women with HLRCC need medication and/or surgical removal of the fibroids (myomectomy) at a younger age. Medications may include gonadotropin-releasing hormone agonists (GnRHa), antihormonal drugs, and pain relievers. Hysterectomy should be performed only when necessary. Early detection of kidney tumors in HLRCC is important because they grow aggressively. Total nephrectomy may be strongly considered in individuals with a detectable renal mass.",GARD,Hereditary leiomyomatosis and renal cell cancer +What is (are) Beare-Stevenson cutis gyrata syndrome ?,"Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.",GARD,Beare-Stevenson cutis gyrata syndrome +What are the symptoms of Beare-Stevenson cutis gyrata syndrome ?,"What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Acanthosis nigricans 90% Aplasia/Hypoplasia of the earlobes 90% Choanal atresia 90% Depressed nasal bridge 90% Dolichocephaly 90% Hearing abnormality 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Melanocytic nevus 90% Palmoplantar keratoderma 90% Proptosis 90% Ptosis 90% Reduced number of teeth 90% Respiratory insufficiency 90% Visceral angiomatosis 90% Bifid scrotum 50% Craniosynostosis 50% Abnormality of the nail 7.5% Anteverted nares 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Hypertension 7.5% Narrow mouth 7.5% Optic atrophy 7.5% Thickened helices 7.5% Umbilical hernia 7.5% Agenesis of corpus callosum - Anteriorly placed anus - Autosomal dominant inheritance - Choanal stenosis - Cloverleaf skull - Hypoplasia of midface - Limited elbow extension - Low-set, posteriorly rotated ears - Narrow palate - Palmoplantar cutis laxa - Preauricular skin furrow - Prominent scrotal raphe - Respiratory distress - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Beare-Stevenson cutis gyrata syndrome +What are the symptoms of Familial congenital fourth cranial nerve palsy ?,"What are the signs and symptoms of Familial congenital fourth cranial nerve palsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fourth cranial nerve palsy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial congenital fourth cranial nerve palsy +What are the symptoms of Gracile bone dysplasia ?,"What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the spleen 90% Bowing of the long bones 90% Decreased skull ossification 90% Micromelia 90% Narrow mouth 90% Recurrent fractures 90% Short philtrum 90% Short stature 90% Skeletal dysplasia 90% Slender long bone 90% Tented upper lip vermilion 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the fingernails 50% Abnormality of the helix 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Abnormality of the ribs 50% Anteverted nares 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the thymus 50% Brachydactyly syndrome 50% Cloverleaf skull 50% Depressed nasal bridge 50% Enlarged thorax 50% Frontal bossing 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Platyspondyly 50% Renal hypoplasia/aplasia 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short nose 50% Short toe 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of neuronal migration 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia involving the nose 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Blepharophimosis 7.5% Blue sclerae 7.5% Cataract 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hepatomegaly 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Iris coloboma 7.5% Microcornea 7.5% Muscular hypotonia 7.5% Oligohydramnios 7.5% Rocker bottom foot 7.5% Upslanted palpebral fissure 7.5% Asplenia 5% Aniridia - Ascites - Autosomal dominant inheritance - Failure to thrive - Flared metaphysis - Hydrocephalus - Hypocalcemia - Hypoplastic spleen - Micropenis - Microphthalmia - Prominent forehead - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gracile bone dysplasia +What is (are) Townes-Brocks syndrome ?,"Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SALL1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. It follows an autosomal dominant pattern of inheritance.",GARD,Townes-Brocks syndrome +What are the symptoms of Townes-Brocks syndrome ?,"What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. Other possible signs and symptoms include kidney abnormalities, mild to profound sensorineural and/or conductive hearing loss, heart defects, and genital malformations. These features vary among affected individuals - even among those within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome. Visit GeneReviews for more detailed information about the signs and symptoms of Townes-Brocks syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Townes-Brocks syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) External ear malformation 90% Preauricular skin tag 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Urogenital fistula 90% Camptodactyly of toe 50% Clinodactyly of the 5th finger 50% Clinodactyly of the 5th toe 50% Constipation 50% Cryptorchidism 50% Ectopic anus 50% Hearing impairment 50% Microtia 50% Pes planus 50% Preauricular pit 50% Renal insufficiency 50% Sensorineural hearing impairment 50% Anal atresia 47% 2-4 finger syndactyly 7.5% Abnormal localization of kidney 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the ribs 7.5% Abnormality of the tragus 7.5% Abnormality of the vagina 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Bifid scrotum 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Cognitive impairment 7.5% Cranial nerve paralysis 7.5% Displacement of the external urethral meatus 7.5% Epibulbar dermoid 7.5% Facial asymmetry 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Lower limb asymmetry 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Renal dysplasia 7.5% Renal hypoplasia 7.5% Short stature 7.5% Split foot 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Vesicoureteral reflux 7.5% Visual impairment 7.5% Wide mouth 7.5% Duane anomaly 5% 2-3 toe syndactyly - 3-4 finger syndactyly - 3-4 toe syndactyly - Anal stenosis - Aplasia/Hypoplasia of the 3rd toe - Autosomal dominant inheritance - Bifid uterus - Broad thumb - Duodenal atresia - Gastroesophageal reflux - Hypospadias - Intellectual disability - Macrotia - Metatarsal synostosis - Microcephaly - Overfolding of the superior helices - Partial duplication of thumb phalanx - Pseudoepiphyses of second metacarpal - Rectoperineal fistula - Rectovaginal fistula - Short metatarsal - Stahl ear - Umbilical hernia - Urethral valve - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Townes-Brocks syndrome +What causes Townes-Brocks syndrome ?,"What causes Townes-Brocks syndrome? Townes-Brocks syndrome is caused by mutations in the SALL1 gene. This gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the symptoms associated with Townes-Brocks syndrome.",GARD,Townes-Brocks syndrome +Is Townes-Brocks syndrome inherited ?,"Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the condition as a result of a new (de novo) mutation.",GARD,Townes-Brocks syndrome +How to diagnose Townes-Brocks syndrome ?,"How is Townes-Brocks syndrome diagnosed? Townes-Brocks syndrome is diagnosed clinically based on the presence of the following: Imperforate anus Abnormally shaped ears Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two, hypoplastic or underdeveloped thumbs) without shortening of the radius (the larger of the two bones in the forearm) SALL1 is the only gene known to be associated with Townes-Brocks syndrome. Detection of a SALL1 mutation confirms the diagnosis. Genetic testing is available on a clinical basis.",GARD,Townes-Brocks syndrome +What are the treatments for Townes-Brocks syndrome ?,"Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stage renal disease (ESRD); and early treatment of hearing loss. In addition, regular monitoring of renal function in individuals with and without renal anomalies is suggested.",GARD,Townes-Brocks syndrome +What is (are) Congenital sucrase-isomaltase deficiency ?,"Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.",GARD,Congenital sucrase-isomaltase deficiency +What are the symptoms of Congenital sucrase-isomaltase deficiency ?,"What are the signs and symptoms of Congenital sucrase-isomaltase deficiency? Affected infants usually develop symptoms soon after they first ingest sucrose, which is found in modified milk formulas, fruits, or starches. Symptoms may include explosive, watery diarrhea resulting in abnormally low levels of body fluids (dehydration), abdominal swelling (distension), and/or abdominal discomfort. In addition, some affected infants may experience malnutrition, resulting from malabsorption of essential nutrients, and/or failure to thrive, resulting from nutritional deficiencies. In some cases, individuals may exhibit irritability; colic; abrasion and/or irritation (excoriation) of the skin on the buttocks as a result of prolonged diarrhea episodes; and/or vomiting. Symptoms of this disorder vary among affected individuals, but are usually more severe in infants and young children than in adults. Symptoms exhibited in infants and young children are usually more pronounced than those of the affected adults because the diet of younger individuals often includes a higher carbohydrate intake. In addition, the time it takes for intestinal digestion is less in infants or young children. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital sucrase-isomaltase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Diarrhea - Malabsorption - Nephrolithiasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital sucrase-isomaltase deficiency +How to diagnose Congenital sucrase-isomaltase deficiency ?,"How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test positive for sucrose, maltose, or palatinose (a form of maltose) if used during tolerance testing. The feces may also show sucrose, glucose, and fructose, and an acid pH level of below 5.0 or 6.0. CSID can be confirmed by taking a small sample of tissue (biopsy) from the small intestine and measuring the activity of the enzyme called sucrase-isomaltase. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of an affected individual after sucrose ingestion.",GARD,Congenital sucrase-isomaltase deficiency +What are the treatments for Congenital sucrase-isomaltase deficiency ?,"How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.",GARD,Congenital sucrase-isomaltase deficiency +What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ?,"What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmune hemolytic anemia - Autosomal recessive inheritance - Episodic fever - Hypoplasia of the iris - Immunodeficiency - Lymphadenopathy - Muscular hypotonia - Myopathy - Recurrent bacterial infections - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immune dysfunction with T-cell inactivation due to calcium entry defect 2 +What are the symptoms of Dysautonomia like disorder ?,"What are the signs and symptoms of Dysautonomia like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysautonomia like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dysautonomia - Intellectual disability - Peripheral neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dysautonomia like disorder +What is (are) Spondylocostal dysostosis 3 ?,"Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.",GARD,Spondylocostal dysostosis 3 +What are the symptoms of Spondylocostal dysostosis 3 ?,"What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Slender finger - Supernumerary vertebral ossification centers - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylocostal dysostosis 3 +"What is (are) Thrombotic thrombocytopenic purpura, congenital ?","Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. TTP, congenital is much rarer than the acquired form and typically appears in infancy or early childhood. Signs and symptoms often recur on a regular basis. TTP, congenital results from mutations in the ADAMTS13 gene. The condition is inherited in an autosomal recessive manner.",GARD,"Thrombotic thrombocytopenic purpura, congenital" +"What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ?","What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Respiratory distress 5% Autosomal recessive inheritance - Confusion - Elevated serum creatinine - Fever - Hemolytic-uremic syndrome - Heterogeneous - Increased blood urea nitrogen (BUN) - Increased serum lactate - Microangiopathic hemolytic anemia - Microscopic hematuria - Prolonged neonatal jaundice - Proteinuria - Reticulocytosis - Schistocytosis - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Thrombotic thrombocytopenic purpura, congenital" +What are the symptoms of Optic atrophy 6 ?,"What are the signs and symptoms of Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Infantile onset - Optic atrophy - Photophobia - Red-green dyschromatopsia - Slow progression - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy 6 +What is (are) Neuronal ceroid lipofuscinosis 7 ?,"Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Neuronal ceroid lipofuscinosis 7 +What are the symptoms of Neuronal ceroid lipofuscinosis 7 ?,"What are the signs and symptoms of Neuronal ceroid lipofuscinosis 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Blindness - Cerebellar atrophy - Cerebral atrophy - Delayed speech and language development - EEG abnormality - Generalized myoclonic seizures - Juvenile onset - Mental deterioration - Neurodegeneration - Optic atrophy - Pigmentary retinopathy - Rapidly progressive - Retinopathy - Sleep disturbance - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuronal ceroid lipofuscinosis 7 +What are the symptoms of Grubben de Cock Borghgraef syndrome ?,"What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Grubben de Cock Borghgraef syndrome +What is (are) Aicardi-Goutieres syndrome type 1 ?,"Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.",GARD,Aicardi-Goutieres syndrome type 1 +What are the symptoms of Aicardi-Goutieres syndrome type 1 ?,"What are the signs and symptoms of Aicardi-Goutieres syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 5% Splenomegaly 5% Abnormality of extrapyramidal motor function - Acrocyanosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebral atrophy - Chilblain lesions - Chronic CSF lymphocytosis - Deep white matter hypodensities - Dystonia - Elevated hepatic transaminases - Feeding difficulties in infancy - Fever - Hepatosplenomegaly - Increased CSF interferon alpha - Intellectual disability, profound - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Multiple gastric polyps - Muscular hypotonia of the trunk - Nystagmus - Petechiae - Poor head control - Progressive encephalopathy - Progressive microcephaly - Prolonged neonatal jaundice - Purpura - Seizures - Spasticity - Strabismus - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aicardi-Goutieres syndrome type 1 +What is (are) Amyopathic dermatomyositis ?,"Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.",GARD,Amyopathic dermatomyositis +What are the symptoms of Amyopathic dermatomyositis ?,"What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyopathic dermatomyositis +"What are the symptoms of Maturity-onset diabetes of the young, type 7 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Maturity-onset diabetes of the young - Type II diabetes mellitus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 7" +What is (are) Paget disease of bone ?,"Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.",GARD,Paget disease of bone +What are the symptoms of Paget disease of bone ?,"What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paget disease of bone +What are the symptoms of Rowley-Rosenberg syndrome ?,"What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature - Aminoaciduria - Atelectasis - Autosomal recessive inheritance - Cor pulmonale - Growth delay - Pulmonary hypertension - Recurrent pneumonia - Reduced subcutaneous adipose tissue - Right ventricular hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rowley-Rosenberg syndrome +What are the symptoms of McKusick Kaufman syndrome ?,"What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cryptorchidism 50% Displacement of the external urethral meatus 50% Postaxial hand polydactyly 50% Urogenital sinus anomaly 50% Abnormality of the metacarpal bones 7.5% Aganglionic megacolon 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Postaxial foot polydactyly 7.5% Renal hypoplasia/aplasia 7.5% Short stature 7.5% Tarsal synostosis 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Anal atresia - Autosomal recessive inheritance - Congenital hip dislocation - Edema - Edema of the lower limbs - Hydrometrocolpos - Hydronephrosis - Hydroureter - Mesoaxial hand polydactyly - Polycystic kidney dysplasia - Pulmonary hypoplasia - Rectovaginal fistula - Syndactyly - Transverse vaginal septum - Vaginal atresia - Vesicovaginal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,McKusick Kaufman syndrome +What are the symptoms of 3 methylglutaconic aciduria type V ?,"What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,3 methylglutaconic aciduria type V +What are the symptoms of Thai symphalangism syndrome ?,"What are the signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome - Broad philtrum - Distal symphalangism (hands) - Dolichocephaly - High palate - Hypodontia - Hypoplastic helices - Postaxial foot polydactyly - Postaxial hand polydactyly - Prominent nasal bridge - Proximal symphalangism (hands) - Ptosis - Short finger - Short stature - Short toe - Small earlobe - Sporadic - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thai symphalangism syndrome +What are the symptoms of Spastic diplegia infantile type ?,"What are the signs and symptoms of Spastic diplegia infantile type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic diplegia infantile type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Muscular hypotonia 90% Autosomal recessive inheritance - Infantile onset - Intellectual disability - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic diplegia infantile type +What is (are) 47 XXX syndrome ?,"47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.",GARD,47 XXX syndrome +What are the symptoms of 47 XXX syndrome ?,"What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum. The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Most females with the condition have normal sexual development and are able to conceive children. The Human Phenotype Ontology provides the following list of signs and symptoms for 47 XXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Epicanthus 50% Muscular hypotonia 50% Tall stature 50% Abnormality of the hip bone 7.5% Attention deficit hyperactivity disorder 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Pectus excavatum 7.5% Renal hypoplasia/aplasia 7.5% Secondary amenorrhea 7.5% Seizures 7.5% Tremor 7.5% Upslanted palpebral fissure 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,47 XXX syndrome +Is 47 XXX syndrome inherited ?,"Is 47 XXX syndrome inherited? Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in the early development of an embryo. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX). Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a <5% increased risk for a chromosomally abnormal pregnancy, and other more recent reports suggest that <1% may be more accurate. These risks are separate from the risks of having a chromosomally abnormal pregnancy due to maternal age or any other factors. Furthermore, these risks generally apply only to women with non-mosaic 47 XXX syndrome, as mosaicism may increase the risk of passing on an abnormal number of X chromosomes and potential outcomes. Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.",GARD,47 XXX syndrome +How to diagnose 47 XXX syndrome ?,"How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or chorionic villus sampling (CVS) procedure. However, in these cases, confirmation testing with a test called FISH is recommended in order to evaluate the fetus for mosaicism (when only a percentage of the cells have the extra X chromosome).",GARD,47 XXX syndrome +What are the treatments for 47 XXX syndrome ?,"How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Early intervention services are typically recommended for infants and children that are diagnosed with the condition. Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. Some services that affected children may take part in include speech therapy, occupational therapy, physical therapy, and developmental therapy and counseling. It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.",GARD,47 XXX syndrome +What is (are) Hypertrophic neuropathy of Dejerine-Sottas ?,"Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4. Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.",GARD,Hypertrophic neuropathy of Dejerine-Sottas +What are the symptoms of Hypertrophic neuropathy of Dejerine-Sottas ?,"What are the signs and symptoms of Hypertrophic neuropathy of Dejerine-Sottas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrophic neuropathy of Dejerine-Sottas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Increased CSF protein - Infantile onset - Kyphoscoliosis - Motor delay - Muscular hypotonia - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensory ataxia - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypertrophic neuropathy of Dejerine-Sottas +What are the symptoms of Bare lymphocyte syndrome 2 ?,"What are the signs and symptoms of Bare lymphocyte syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agammaglobulinemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Biliary tract abnormality - Chronic lymphocytic meningitis - Chronic mucocutaneous candidiasis - Colitis - Cutaneous anergy - Encephalitis - Failure to thrive - Malabsorption - Neutropenia - Panhypogammaglobulinemia - Protracted diarrhea - Recurrent bacterial infections - Recurrent fungal infections - Recurrent lower respiratory tract infections - Recurrent protozoan infections - Recurrent upper respiratory tract infections - Recurrent urinary tract infections - Recurrent viral infections - Villous atrophy - Viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bare lymphocyte syndrome 2 +What are the symptoms of Retinoschisis of Fovea ?,"What are the signs and symptoms of Retinoschisis of Fovea? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis of Fovea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram - Autosomal recessive inheritance - Foveoschisis - Hypermetropia - Macular dystrophy - Nyctalopia - Rod-cone dystrophy - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinoschisis of Fovea +"What are the symptoms of Dwarfism, mental retardation and eye abnormality ?","What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Freckling 90% Neurological speech impairment 90% Short stature 90% Behavioral abnormality 50% Cataract 50% EEG abnormality 50% Myopia 50% Abnormality of movement 7.5% Hypertrichosis 7.5% Abnormality of the orbital region - Autosomal recessive inheritance - Hypoplasia of the iris - Intellectual disability - Microcephaly - Nuclear cataract - Severe Myopia - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dwarfism, mental retardation and eye abnormality" +What is (are) Richter syndrome ?,"Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising).",GARD,Richter syndrome +What are the treatments for Richter syndrome ?,"Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemotherapy and steroids to treat Richter syndrome. Researchers in a trial called the CHOP-OR study are studying whether a new biological therapy similar to rituximab can make CHOP chemotherapy work better. The new biological therapy drug is called ofatumumab (Arzerra). People who have been recently diagnosed with Richter syndrome can participate in this study. The study has two parts. First, patients have ofatumumab with CHOP chemotherapy to eliminate the lymphoma (this is called induction treatment). They then have more ofatumumab on its own to try to stop the lymphoma from coming back (this is called maintenance treatment). CLICK HERE to learn more about this study. Stem cell transplant is another way of treating Richter syndrome. While only a few people have undergone stem cell transplant for treatment of this disease, so far it has appeared to work quite well. The disease was controlled for longer than in people having normal dose chemotherapy. However, because stem cell transplants have serious side effects and complications, they are only suitable for a small group of people. More research is needed before we can truly find out how well stem cell treatment works for people with Richter syndrome. A recent study showed that a chemotherapy regimen called OFAR (a combination of oxaliplatin, fludarabine, cytarabine, and rituximab) had significant antileukemic activity in patients with Richter syndrome and relapsed/refractory CLL. Patients who underwent stem cell therapy as post-remission therapy had even more favorable outcomes.",GARD,Richter syndrome +What is (are) Spondylothoracic dysostosis ?,"Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. Spondylothoracic dysostosis is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person and may include surgery for bone malformations and respiratory support.",GARD,Spondylothoracic dysostosis +What are the symptoms of Spondylothoracic dysostosis ?,"What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a ""crab-like"" appearance to the rib cage. The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood. Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two ""E230X"" mutations in the MESP2 gene. Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.",GARD,Spondylothoracic dysostosis +Is Spondylothoracic dysostosis inherited ?,Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.,GARD,Spondylothoracic dysostosis +What are the treatments for Spondylothoracic dysostosis ?,"What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment.",GARD,Spondylothoracic dysostosis +What are the symptoms of Spastic paraplegia 14 ?,"What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Intellectual disability, mild - Lower limb muscle weakness - Lower limb spasticity - Motor axonal neuropathy - Pes cavus - Progressive - Spastic gait - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 14 +What are the symptoms of Cerebral palsy ataxic ?,"What are the signs and symptoms of Cerebral palsy ataxic? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral palsy ataxic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Broad-based gait - Cerebellar atrophy - Cerebral palsy - Dysarthria - Dysdiadochokinesis - Horizontal nystagmus - Infantile onset - Motor delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebral palsy ataxic +"What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ?","Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. Autosomal recessive inheritance has been suggested.",GARD,"Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy" +"What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ?","What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy" +What are the symptoms of Ruvalcaba syndrome ?,"What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the teeth 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Convex nasal ridge 90% Kyphosis 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Proximal placement of thumb 90% Ptosis 90% Short nose 90% Short palm 90% Synostosis of carpal bones 90% Thin vermilion border 90% Abnormality of the elbow 50% Abnormality of vertebral epiphysis morphology 50% Cryptorchidism 50% High forehead 50% Intrauterine growth retardation 50% Narrow chest 50% Pectus carinatum 50% Scoliosis 50% Abnormal electroretinogram 7.5% Abnormal localization of kidney 7.5% Abnormality of visual evoked potentials 7.5% Clinodactyly of the 5th finger 7.5% Hematuria 7.5% Hernia of the abdominal wall 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Seizures 7.5% Abnormality of the breast - Autosomal dominant inheritance - Delayed puberty - Dental crowding - Inguinal hernia - Intellectual disability - Limited elbow extension - Narrow nose - Retinal dystrophy - Short foot - Short metacarpal - Short metatarsal - Short phalanx of finger - Short stature - Small hand - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ruvalcaba syndrome +What is (are) Papillary renal cell carcinoma ?,"Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term ""papillary"" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.",GARD,Papillary renal cell carcinoma +What are the symptoms of Papillary renal cell carcinoma ?,"What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Incomplete penetrance - Papillary renal cell carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Papillary renal cell carcinoma +What is (are) Acute respiratory distress syndrome ?,"Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream. Symptoms may include difficulty breathing, low blood pressure and organ failure, rapid breathing and shortness of breath.",GARD,Acute respiratory distress syndrome +What are the treatments for Acute respiratory distress syndrome ?,"How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. A breathing machine is used to deliver high doses of oxygen and continued pressure called PEEP (positive end-expiratory pressure) to the damaged lungs. Patients often need to be deeply sedated with medications when using this equipment. Some research suggests that giving medications to temporarily paralyze a person with ARDS will increase the chance of recovery. Treatment continues until the patient is well enough to breathe on his/her own. More detailed information about the treatment of ARDS can be accessed through the National Heart, Lung and Blood Institute (NHLBI) and Medscape Reference. An article detailing Oxygen Therapy is also available.",GARD,Acute respiratory distress syndrome +What is (are) Adolescent idiopathic scoliosis ?,"Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated ""s"" or ""C"" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable; however, in some children, the curve becomes more severe over time (progressive). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. The cause of adolescent idiopathic scoliosis is unknown. It is likely that there are both genetic and environmental factors involved. Treatment may include observation, bracing and/or surgery.",GARD,Adolescent idiopathic scoliosis +What are the symptoms of Adolescent idiopathic scoliosis ?,"What are the symptoms of adolescent idiopathic scoliosis? Adolescent idiopathic scoliosis is characterized by an abnormal curvature of the spine (usually in an elongated ""S"" or ""C"" shape), along with twisted or rotated bones of the spine. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature. Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body.",GARD,Adolescent idiopathic scoliosis +What causes Adolescent idiopathic scoliosis ?,"What causes adolescent idiopathic scoliosis? The term ""idiopathic"" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not yet been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with this condition have been identified.",GARD,Adolescent idiopathic scoliosis +Is Adolescent idiopathic scoliosis inherited ?,"Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. We do know, however, that having a close relative (such as a parent or sibling) with the condition increases a child's risk of developing it.",GARD,Adolescent idiopathic scoliosis +What are the treatments for Adolescent idiopathic scoliosis ?,"How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies). Detailed information about these treatment options can be accessed through the Scoliosis Research Society.",GARD,Adolescent idiopathic scoliosis +What is (are) Carnitine palmitoyltransferase 2 deficiency ?,"Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.",GARD,Carnitine palmitoyltransferase 2 deficiency +What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ?,"What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated hepatic transaminases 90% Hepatomegaly 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Myalgia 90% Myopathy 90% Seizures 90% Cerebral calcification 50% Multicystic kidney dysplasia 50% Renal insufficiency 50% Encephalitis 7.5% Hypoglycemia 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carnitine palmitoyltransferase 2 deficiency +"What are the symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias ?","What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Displacement of the external urethral meatus 90% Postaxial hand polydactyly 90% Short distal phalanx of finger 90% Short hallux 90% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Autosomal dominant inheritance - Glandular hypospadias - Short 2nd toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Preaxial deficiency, postaxial polydactyly and hypospadias" +What are the symptoms of Methionine adenosyltransferase deficiency ?,"What are the signs and symptoms of Methionine adenosyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Methionine adenosyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - CNS demyelination - Dystonia - Hypermethioninemia - Hyperreflexia - Peripheral demyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Methionine adenosyltransferase deficiency +What is (are) Jervell Lange-Nielsen syndrome ?,"Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion.",GARD,Jervell Lange-Nielsen syndrome +What are the symptoms of Jervell Lange-Nielsen syndrome ?,"What are the signs and symptoms of Jervell Lange-Nielsen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell Lange-Nielsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jervell Lange-Nielsen syndrome +What are the symptoms of Cranioacrofacial syndrome ?,"What are the signs and symptoms of Cranioacrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cranioacrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hand morphology - Autosomal dominant inheritance - Dupuytren contracture - Narrow face - Pulmonic stenosis - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cranioacrofacial syndrome +What is (are) L-arginine:glycine amidinotransferase deficiency ?,"L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate.",GARD,L-arginine:glycine amidinotransferase deficiency +What are the symptoms of L-arginine:glycine amidinotransferase deficiency ?,"What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gowers sign 5% Abnormality of creatine metabolism - Autism - Autosomal recessive inheritance - Delayed speech and language development - Failure to thrive - Infantile onset - Intellectual disability - Organic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,L-arginine:glycine amidinotransferase deficiency +What are the symptoms of Genitopatellar syndrome ?,"What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of female external genitalia 90% Abnormality of pelvic girdle bone morphology 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cryptorchidism 90% Microcephaly 90% Patellar aplasia 90% Polycystic kidney dysplasia 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the corpus callosum 50% Delayed eruption of teeth 50% Fine hair 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Seizures 50% Talipes 50% Aplasia/Hypoplasia of the lungs 7.5% Apnea 7.5% Atria septal defect 7.5% Hearing impairment 7.5% Radioulnar synostosis 7.5% Short stature 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Clitoral hypertrophy - Coarse facial features - Colpocephaly - Congenital hip dislocation - Dysphagia - Hip contracture - Hydronephrosis - Hypertrophic labia minora - Hypoplastic inferior pubic rami - Hypoplastic ischia - Intellectual disability, progressive - Knee flexion contracture - Laryngomalacia - Micropenis - Multicystic kidney dysplasia - Muscular hypotonia - Patellar dislocation - Periventricular gray matter heterotopia - Polyhydramnios - Prominent nose - Pulmonary hypoplasia - Short phalanx of finger - Sparse scalp hair - Talipes equinovarus - Ventricular septal defect - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Genitopatellar syndrome +"What is (are) Muscular dystrophy, congenital, merosin-positive ?","The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.",GARD,"Muscular dystrophy, congenital, merosin-positive" +"What are the symptoms of Muscular dystrophy, congenital, merosin-positive ?","What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Muscular dystrophy, congenital, merosin-positive" +What are the symptoms of Mucopolysaccharidosis type VII ?,"What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pleura 90% Ascites 90% Coarse facial features 90% Cognitive impairment 90% Lymphedema 90% Malar flattening 90% Opacification of the corneal stroma 90% Recurrent respiratory infections 90% Scoliosis 90% Short stature 90% Umbilical hernia 90% Abnormality of the hip bone 50% Abnormality of the liver 50% Epiphyseal stippling 50% Hydrops fetalis 50% Limitation of joint mobility 50% Muscular hypotonia 50% Splenomegaly 50% Talipes 50% Arteriovenous malformation 7.5% Enlarged thorax 7.5% Short neck 7.5% Abnormality of the heart valves - Acetabular dysplasia - Anterior beaking of lower thoracic vertebrae - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Corneal opacity - Dermatan sulfate excretion in urine - Dysostosis multiplex - Flexion contracture - Hearing impairment - Hepatomegaly - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - J-shaped sella turcica - Macrocephaly - Narrow greater sacrosciatic notches - Neurodegeneration - Pectus carinatum - Platyspondyly - Postnatal growth retardation - Proximal tapering of metacarpals - Thoracolumbar kyphosis - Urinary glycosaminoglycan excretion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type VII +What is (are) Paraneoplastic cerebellar degeneration ?,"Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typically thought to be caused by antibodies generated against tumor cells. Instead of just attacking the cancer cells, the cancer-fighting antibodies also attack normal cells in the cerebellum. PCD occurs most often in individuals with the following cancers: ovarian cancer, cancer of the uterus, breast cancer, small-cell lung cancer, and Hodgkin lymphoma. Symptoms of PCD may include dizziness, loss of coordination, blurred vision, nystagmus, ataxia, and speech difficulties.",GARD,Paraneoplastic cerebellar degeneration +What are the symptoms of Kenny-Caffey syndrome type 1 ?,"What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Birth length less than 3rd percentile - Calvarial osteosclerosis - Carious teeth - Congenital hypoparathyroidism - Decreased skull ossification - Delayed closure of the anterior fontanelle - Delayed skeletal maturation - Hypertelorism - Hypocalcemia - Hypomagnesemia - Intrauterine growth retardation - Long clavicles - Proportionate short stature - Recurrent bacterial infections - Seizures - Short foot - Short palm - Slender long bone - Small hand - Tetany - Thin clavicles - Thin ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kenny-Caffey syndrome type 1 +"What are the symptoms of Keratitis, hereditary ?","What are the signs and symptoms of Keratitis, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratitis, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Keratitis - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Keratitis, hereditary" +What is (are) Macular degeneration ?,"Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition.",GARD,Macular degeneration +What is (are) Levator syndrome ?,"Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.",GARD,Levator syndrome +What is (are) Glycogen storage disease type 13 ?,"Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.",GARD,Glycogen storage disease type 13 +What are the symptoms of Glycogen storage disease type 13 ?,"What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia). Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Increased muscle glycogen content - Myalgia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 13 +What causes Glycogen storage disease type 13 ?,"What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy. In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.",GARD,Glycogen storage disease type 13 +How to diagnose Glycogen storage disease type 13 ?,How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene.,GARD,Glycogen storage disease type 13 +What are the symptoms of Paroxysmal ventricular fibrillation ?,"What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ventricular fibrillation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paroxysmal ventricular fibrillation +What are the symptoms of Kasznica Carlson Coppedge syndrome ?,"What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Hearing abnormality 90% Myelomeningocele 90% Ventricular septal defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kasznica Carlson Coppedge syndrome +What is (are) Interstitial cystitis ?,"Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. In recent years, scientists have started to use the terms bladder pain syndrome (BPS) or painful bladder syndrome (PBS) to describe cases with painful urinary symptoms that may not meet the strictest definition of IC. While there is no cure for IC/PBS, in many cases, the symptoms can be managed. Treatments include dietary and lifestyle changes; distending, or inflating, the bladder; bathing the inside of the bladder with a medicine solution; oral medicines and in rare cases, surgery.",GARD,Interstitial cystitis +What is (are) Pseudoangiomatous stromal hyperplasia ?,"Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for other non-cancerous or cancerous lesions. Tumorous PASH presents as a firm, painless breast mass or a dense region on a mammogram.",GARD,Pseudoangiomatous stromal hyperplasia +What are the treatments for Pseudoangiomatous stromal hyperplasia ?,"Is treatment available for pseudoangiomatous stromal hyperplasia (PASH)? Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy (cancer) nor considered to be premalignant (pre-cancerous). According to the medical text, CONN's Current Therapy 2007, approximately 7 percent of people experience a recurrence of PASH.",GARD,Pseudoangiomatous stromal hyperplasia +What is (are) Fabry disease ?,"Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.",GARD,Fabry disease +What are the symptoms of Fabry disease ?,"What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Anemia 90% Arthralgia 90% Arthritis 90% Cerebral ischemia 90% Congestive heart failure 90% Conjunctival telangiectasia 90% Corneal dystrophy 90% Hematuria 90% Hyperkeratosis 90% Hypohidrosis 90% Malabsorption 90% Myalgia 90% Nephrotic syndrome 90% Opacification of the corneal stroma 90% Paresthesia 90% Renal insufficiency 90% Telangiectasia of the skin 90% Abnormality of lipid metabolism 50% Abnormality of the aortic valve 50% Abnormality of the genital system 50% Abnormality of the mitral valve 50% Abnormality of the renal tubule 50% Anorexia 50% Arrhythmia 50% Behavioral abnormality 50% Cataract 50% Coarse facial features 50% Cognitive impairment 50% Emphysema 50% Nausea and vomiting 50% Nephropathy 50% Optic atrophy 50% Proteinuria 50% Short stature 50% Thick lower lip vermilion 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Abnormality of the femur 7.5% Chronic obstructive pulmonary disease 7.5% Coronary artery disease 7.5% Developmental regression 7.5% Diabetes insipidus 7.5% Glomerulopathy 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Lymphedema 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Vertigo 7.5% Abnormality of the hand - Angina pectoris - Angiokeratoma - Delayed puberty - Diarrhea - Dysautonomia - Fasciculations - Juvenile onset - Left ventricular hypertrophy - Left ventricular septal hypertrophy - Muscle cramps - Myocardial infarction - Nausea - Obstructive lung disease - Tenesmus - Transient ischemic attack - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fabry disease +Is Fabry disease inherited ?,"How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. Because females have two copies of the X chromosome, one mutated copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.",GARD,Fabry disease +What are the treatments for Fabry disease ?,"How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain. Renal insufficiency may be treated with ACE inhibitors. Experts recommend ACE inhibitors for all individuals with evidence of kidney involvement, especially to reduce protein in the urine (proteinuria). Chronic hemodialysis and/or renal transplantation have become lifesaving procedures for affected individuals. The transplanted kidney remains free of the harmful fatty substance (glycosphingolipid) deposition. Therefore, successful renal transplantation corrects the renal function. Transplantation of kidneys from carriers for Fabry disease should be avoided because these kidneys may already be affected. All potential donors that are relatives of the affected individual should be evaluated for their genetic status to make sure they are not affected or a carrier. Enzyme replacement therapy (ERT) is generally used to improve some of the the signs and symptoms associated with Fabry disease and to stabilize organ function. Experts have recommended that ERT be started as early as possible in all males with Fabry disease (including children and those with end stage renal disease (ESRD) undergoing dialysis and renal transplantation) and in female carriers that are significantly affected. All of these individuals are at high risk for cardiac, cerebrovascular (interruption of blood supply to the brain), and neurologic complications, such as transient ischemic attacks and strokes. The role of ERT in the long-term prevention of renal, cardiac, and central nervous system (CNS) involvement is unproven; however, because ERT can stabilize organ function in individuals with more advanced disease, some have suggested starting ERT in early disease stages. This might include starting ERT when an individual is asymptomatic. Prevention of complications such as renovascular disease (conditions affecting the blood vessels of the kidneys), ischemic heart disease, and cerebrovascular disease in affected individuals is generally the same as for the general population. Measures taken may include ACE inhibitors and/or ARB drugs for proteinuria or albuminemia (high levels of albumin in the blood); blood pressure control; and cholesterol control. Aspirin and other medications may be recommended for the prevention of stroke. Surveillance may include yearly or more frequent renal function studies, yearly cardiology evaluation, and yearly hearing evaluation.",GARD,Fabry disease +What is (are) Andermann syndrome ?,"Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.",GARD,Andermann syndrome +What are the symptoms of Andermann syndrome ?,"What are the signs and symptoms of Andermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Microcephaly 90% Seizures 90% Aqueductal stenosis 50% Abnormality of retinal pigmentation 7.5% Craniosynostosis 7.5% Myopia 7.5% Nystagmus 7.5% Strabismus 7.5% 2-3 toe syndactyly - Agenesis of corpus callosum - Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Brachycephaly - Decreased motor nerve conduction velocity - Decreased sensory nerve conduction velocity - EMG: chronic denervation signs - Facial asymmetry - Facial diplegia - Flexion contracture - Generalized hypotonia - High palate - Hypertelorism - Hypoplasia of the maxilla - Increased CSF protein - Intellectual disability - Limb muscle weakness - Limb tremor - Long face - Low anterior hairline - Macrotia - Motor delay - Motor polyneuropathy - Narrow forehead - Neonatal hypotonia - Onion bulb formation - Peripheral axonal neuropathy - Polyneuropathy - Progressive - Psychosis - Ptosis - Respiratory tract infection - Restrictive respiratory insufficiency - Scoliosis - Sensory neuropathy - Short nose - Skeletal muscle atrophy - Tapered finger - Ventriculomegaly - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Andermann syndrome +What are the symptoms of Westphal disease ?,"What are the signs and symptoms of Westphal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Westphal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Westphal disease +What is (are) Schwartz Jampel syndrome type 1 ?,"Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan. SJS1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery. There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome.",GARD,Schwartz Jampel syndrome type 1 +What are the symptoms of Schwartz Jampel syndrome type 1 ?,"What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem ""fixed"" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. Additional facial features may include: Blepharophimosis (narrowing of the eye opening) Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye) Blepharospasm (involuntary blinking or spasm of the eyelids) Hypertrichosis (excessive hair) of the eye lashes Micrognathia (small lower jaw) Individuals with SJS1 usually have short stature. Other skeletal and joint findings may include: Shortened neck Pectus carinatum (outward bowing of the chest) Kyphosis (curving of the spine that causes a bowing or rounding of the back) Coxa valga (hip deformity involving an increased neck-shaft angle of the femur) Joint contractures Osteoporosis Widening of the metaphysis (portion of the bone containing the growth plate) Delayed bone age Other less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS1 have an intellectual disability; however, most individuals with SJS1 have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwartz Jampel syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Cognitive impairment 90% EMG abnormality 90% Full cheeks 90% Gait disturbance 90% Genu valgum 90% Hypertonia 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Myotonia 90% Narrow mouth 90% Pes planus 90% Short stature 90% Skeletal dysplasia 90% Talipes 90% Trismus 90% Visual impairment 90% Abnormal vertebral ossification 50% Abnormality of the eyebrow 50% Abnormality of the pharynx 50% Blepharophimosis 50% Cataract 50% Hyperlordosis 50% Kyphosis 50% Malar flattening 50% Mask-like facies 50% Myopathy 50% Myopia 50% Overfolded helix 50% Pectus carinatum 50% Platyspondyly 50% Prominent nasal bridge 50% Ptosis 50% Reduced bone mineral density 50% Scoliosis 50% Short neck 50% Skeletal muscle hypertrophy 50% Spinal rigidity 50% Strabismus 50% Abnormality of immune system physiology 7.5% Abnormality of the ribs 7.5% Abnormality of the ureter 7.5% Abnormally straight spine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Apnea 7.5% Arrhythmia 7.5% Attention deficit hyperactivity disorder 7.5% Cleft palate 7.5% Decreased body weight 7.5% Delayed skeletal maturation 7.5% Distichiasis 7.5% Ectopia lentis 7.5% Elbow dislocation 7.5% Feeding difficulties in infancy 7.5% Hypertelorism 7.5% Hypertrichosis 7.5% Increased bone mineral density 7.5% Laryngomalacia 7.5% Long philtrum 7.5% Low anterior hairline 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Microcornea 7.5% Muscle weakness 7.5% Myalgia 7.5% Nephrolithiasis 7.5% Neurological speech impairment 7.5% Odontogenic neoplasm 7.5% Pectus excavatum 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Protrusio acetabuli 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Sprengel anomaly 7.5% Testicular torsion 7.5% Umbilical hernia 7.5% Wormian bones 7.5% Abnormality of femoral epiphysis - Anterior bowing of long bones - Autosomal recessive inheritance - Congenital hip dislocation - Coronal cleft vertebrae - Coxa valga - Coxa vara - Decreased testicular size - Flat face - Flexion contracture of toe - Generalized hirsutism - High pitched voice - Hip contracture - Hyporeflexia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Long eyelashes in irregular rows - Low-set ears - Lumbar hyperlordosis - Metaphyseal widening - Osteoporosis - Pursed lips - Shoulder flexion contracture - Talipes equinovarus - Weak voice - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schwartz Jampel syndrome type 1 +What causes Schwartz Jampel syndrome type 1 ?,"What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure. In SJS1, it is suspected that a disturbance in perlecan function leads to a deficiency of acetylcholinesterase, an enzyme involved in breaking down acetylcholine, a neurotransmitter that sends messages between nerves, leading to muscle contraction. If acetylcholine is not broken down, it may lead to an prolonged muscle contraction or stiffening of the muscles (myotonia).",GARD,Schwartz Jampel syndrome type 1 +Is Schwartz Jampel syndrome type 1 inherited ?,"How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). Rarely, cases of SJS1 with autosomal dominant inheritance have been reported. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.",GARD,Schwartz Jampel syndrome type 1 +How to diagnose Schwartz Jampel syndrome type 1 ?,"How is Schwartz Jampel syndrome type 1 diagnosed? The diagnosis of Schwartz Jampel syndrome type 1 (SJS1) is suspected based on clinical findings including characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing SJS1 include: blood tests (which may show elevated serum creatine kinase or adolase); imaging studies; muscle biopsy; and electromyography (EMG)/nerve conduction studies. Genetic testing of the HSPG2 gene may additionally be helpful to confirm the diagnosis.",GARD,Schwartz Jampel syndrome type 1 +What are the treatments for Schwartz Jampel syndrome type 1 ?,"How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes). If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.",GARD,Schwartz Jampel syndrome type 1 +"What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ?","What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Bone cyst 50% Glomerulopathy 50% Hypercalcemia 50% Hyperparathyroidism 50% Proteinuria 50% Renal insufficiency 50% Anemia 7.5% Autosomal recessive inheritance - Nephropathy - Parathyroid hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nephropathy, deafness, and hyperparathyroidism" +What are the symptoms of ADULT syndrome ?,"What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Dry skin 90% Fine hair 90% Finger syndactyly 90% Freckling 90% Melanocytic nevus 90% Skin ulcer 90% Split foot 90% Thin skin 90% Toe syndactyly 90% Abnormality of dental morphology 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Prominent nasal bridge 7.5% Absent nipple - Adermatoglyphia - Autosomal dominant inheritance - Breast hypoplasia - Conjunctivitis - Cutaneous photosensitivity - Dermal atrophy - Ectodermal dysplasia - Eczema - Fair hair - Hypodontia - Hypoplastic nipples - Microdontia - Nail pits - Nasolacrimal duct obstruction - Oligodontia - Oral cleft - Premature loss of permanent teeth - Sparse axillary hair - Sparse scalp hair - Split hand - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ADULT syndrome +"What are the symptoms of Corneal hypesthesia, familial ?","What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Autosomal dominant inheritance - Decreased corneal sensation - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Corneal hypesthesia, familial" +What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of color vision 50% Astigmatism 50% Hyperlordosis 50% Hypermetropia 50% Myopia 50% Nystagmus 50% Photophobia 50% Scoliosis 50% Visual impairment 50% Brachydactyly syndrome 7.5% Limitation of joint mobility 7.5% Abnormality of macular pigmentation - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Coxa vara - Cupped ribs - Dental malocclusion - Femoral bowing - Hypoplastic inferior ilia - Joint stiffness - Metaphyseal cupping - Metaphyseal irregularity - Metaphyseal widening - Narrow greater sacrosciatic notches - Ovoid vertebral bodies - Postnatal growth retardation - Progressive visual loss - Recurrent otitis media - Rhizomelia - Severe platyspondyly - Short finger - Short metacarpal - Spondylometaphyseal dysplasia - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia with cone-rod dystrophy +"What are the symptoms of X-linked intellectual disability, Najm type ?","What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"X-linked intellectual disability, Najm type" +What is (are) Hirschsprung's disease ?,"Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel.",GARD,Hirschsprung's disease +What are the symptoms of Hirschsprung's disease ?,"What are the signs and symptoms of Hirschsprung's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Aganglionic megacolon 90% Constipation 90% Intestinal obstruction 90% Nausea and vomiting 90% Weight loss 50% Adducted thumb 7.5% Cognitive impairment 7.5% Diarrhea 7.5% Intestinal polyposis 7.5% Neoplasm of the thyroid gland 7.5% Sensorineural hearing impairment 7.5% Sepsis 7.5% Short stature 7.5% Abdominal distention - Abnormality of the enteric ganglia - Autosomal dominant inheritance - Enterocolitis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hirschsprung's disease +What causes Hirschsprung's disease ?,"What causes Hirschsprung disease? There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as: A part of a syndrome In association with a chromosome anomaly (such as trisomy 21 or Down syndrome) Along with other birth defects but not as a part of a known syndrome As an isolated condition",GARD,Hirschsprung's disease +Is Hirschsprung's disease inherited ?,"Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents. If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome. Individuals who are interested in learning about their personal risks or risks to family members should speak with their health care provider or a genetics professional.",GARD,Hirschsprung's disease +What are the symptoms of Paragangliomas 1 ?,"What are the signs and symptoms of Paragangliomas 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paragangliomas 1 +What are the symptoms of Hypothalamic hamartomas ?,"What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in infancy 50% Abnormality of cardiovascular system morphology - Anterior hypopituitarism - Autosomal recessive inheritance - Cleft palate - Depressed nasal bridge - Glioma - Hip dislocation - Hydrocephalus - Hypothalamic hamartoma - Macrocephaly - Median cleft lip - Microglossia - Micromelia - Micropenis - Occipital encephalocele - Postaxial hand polydactyly - Pulmonary hypoplasia - Renal dysplasia - Short nose - Short ribs - Skeletal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypothalamic hamartomas +What is (are) Miller-Dieker syndrome ?,"Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.",GARD,Miller-Dieker syndrome +What are the symptoms of Miller-Dieker syndrome ?,"What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 100% Motor delay 100% Anteverted nares 90% Cerebral cortical atrophy 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Posteriorly rotated ears 90% Seizures 90% Short nose 90% Abnormality of the cardiovascular system 50% Polyhydramnios 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Clinodactyly of the 5th finger 7.5% Incoordination 7.5% Nephropathy 7.5% Omphalocele 7.5% Sacral dimple 7.5% Lissencephaly 27/27 Short nose 26/26 Thick upper lip vermilion 25/25 Wide nasal bridge 24/25 Cavum septum pellucidum 17/22 Hypoplasia of the corpus callosum 17/23 Sacral dimple 14/19 Microcephaly 17/25 Deep palmar crease 14/21 Midline brain calcifications 13/24 Low-set ears 14/27 Clinodactyly of the 5th finger 10/24 Epicanthus 8/22 Intrauterine growth retardation 8/22 Polyhydramnios 6/20 Abnormality of cardiovascular system morphology 6/27 Joint contracture of the hand 6/27 Single transverse palmar crease 5/24 Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Camptodactyly - Cataract - Cleft palate - Contiguous gene syndrome - Cryptorchidism - Decreased fetal movement - Delayed eruption of teeth - Duodenal atresia - Failure to thrive - Heterotopia - Infantile muscular hypotonia - Infantile spasms - Inguinal hernia - Pachygyria - Pelvic kidney - Polydactyly - Progressive spastic paraplegia - Recurrent aspiration pneumonia - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Miller-Dieker syndrome +What are the symptoms of Feingold syndrome ?,"What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Microcephaly 90% 4-5 toe syndactyly 86% 2-3 toe syndactyly 56% Anteverted nares 50% Cognitive impairment 50% Depressed nasal bridge 50% External ear malformation 50% Hallux valgus 50% Short stature 50% Toe syndactyly 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Duodenal stenosis 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Sensorineural hearing impairment 7.5% Tracheoesophageal fistula 7.5% Accessory spleen - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Asplenia - Autosomal dominant inheritance - Decreased fetal movement - Depressed nasal tip - Duodenal atresia - Epicanthus - Esophageal atresia - Facial asymmetry - Hearing impairment - High palate - Intellectual disability - Low-set ears - Polyhydramnios - Polysplenia - Posteriorly rotated ears - Prominent occiput - Short palpebral fissure - Short toe - Small anterior fontanelle - Specific learning disability - Thick vermilion border - Triangular face - Upslanted palpebral fissure - Vocal cord paralysis - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Feingold syndrome +What is (are) Kimura disease ?,"Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck. These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response.",GARD,Kimura disease +What are the treatments for Kimura disease ?,"How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. Other, less common, treatments include oral pentoxifylline, medication that supresses the immune system (such as cyclosporine), radiotherapy, and a combination of all trans-retinoic acid and prednisone. It is important to consult with your healthcare provider before taking any medication.",GARD,Kimura disease +What is (are) Carnitine-acylcarnitine translocase deficiency ?,"Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.",GARD,Carnitine-acylcarnitine translocase deficiency +What are the symptoms of Carnitine-acylcarnitine translocase deficiency ?,"What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carnitine-acylcarnitine translocase deficiency +What causes Carnitine-acylcarnitine translocase deficiency ?,"What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called ""carnitine-acylcarnitine translocase"" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.",GARD,Carnitine-acylcarnitine translocase deficiency +Is Carnitine-acylcarnitine translocase deficiency inherited ?,"How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Carnitine-acylcarnitine translocase deficiency +How to diagnose Carnitine-acylcarnitine translocase deficiency ?,"Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis.",GARD,Carnitine-acylcarnitine translocase deficiency +What are the treatments for Carnitine-acylcarnitine translocase deficiency ?,"How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not others. When necessary, treatment are usually needed throughout life. Children with carnitine-acylcarnitine translocase deficiency should be followed by a metabolic doctor and a dietician in addition to their primary doctor. Aggressive treatment of hypoglycemia, hyperammonemia and prevention of lipolysis (the breakdown of fat stored in fat cells) in the newborn may be lifesaving. Infants and young children with carnitine-acylcarnitine translocase deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours, although some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Sometimes a low-fat, high carbohydrate diet is advised. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy food). Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. However, supplementation with carnitine remains controversial, as its efficacy remains unknown. Medium Chain Triglyceride oil (MCT oil) is sometimes used as part of the food plan for people with carnitine-acylcarnitine translocase deficiency. This special oil has medium chain fatty acids that people with carnitine-acylcarnitine translocase deficiency can use in small amounts for energy. You may be instructed to call your child's doctor at the start of any illness. Children with carnitine-acylcarnitine translocase deficiency need to eat extra starchy food and drink more fluids during any illness (even if they may not feel hungry) or they could develop a metabolic crisis.",GARD,Carnitine-acylcarnitine translocase deficiency +What is (are) Autoimmune atrophic gastritis ?,"Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, abdominal pain and/or vitamin deficiencies. The condition is associated with an increased risk of pernicious anemia, gastric polyps and gastric adenocarcinoma. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in some families. Treatment is based on the signs and symptoms present in each person, but may include vitamin B12 injections and endoscopic surveillance.",GARD,Autoimmune atrophic gastritis +What are the symptoms of Autoimmune atrophic gastritis ?,"What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impaired absorption of vitamin B12 and possibly other vitamin deficiencies (such as folate and iron). People with vitamin B12 deficiency are at risk for pernicious anemia, a condition in which the body does not have enough healthy red blood cells. Autoimmune atrophic gastritis is considered a ""precancerous"" condition and it may be responsible for the development of gastric adenocarcinoma or carcinoids.",GARD,Autoimmune atrophic gastritis +What causes Autoimmune atrophic gastritis ?,"What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). This leads to the signs and symptoms of autoimmune atrophic gastritis.",GARD,Autoimmune atrophic gastritis +Is Autoimmune atrophic gastritis inherited ?,"Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal dominant conditions, an affected person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with the condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Autoimmune atrophic gastritis +How to diagnose Autoimmune atrophic gastritis ?,How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally includes: A biopsy of the affected tissue obtained through endoscopy Blood work that demonstrates autoantibodies against certain cells of the stomach,GARD,Autoimmune atrophic gastritis +What are the treatments for Autoimmune atrophic gastritis ?,"How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress.",GARD,Autoimmune atrophic gastritis +What is (are) Dentatorubral-pallidoluysian atrophy ?,"Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Treatment is symptomatic and supportive.",GARD,Dentatorubral-pallidoluysian atrophy +What are the symptoms of Dentatorubral-pallidoluysian atrophy ?,"What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia). Epileptic seizures occur in all individuals with onset before 20 years of age. When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia; uncontrollable movements of the limbs (choreoathetosis); psychiatric symptoms such as delusions; and deterioration of intellectual function (dementia). Seizures are less frequent in individuals with onset between the ages of 20 and 40. Seizures are rare in individuals with onset after age 40. Individuals who have inherited the condition from an affected parent typically have symptoms 26 to 29 years earlier than affected fathers, and 14 to 15 years earlier than affected mothers. The Human Phenotype Ontology provides the following list of signs and symptoms for Dentatorubral-pallidoluysian atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atrophy of the dentate nucleus 90% Fetal cystic hygroma 90% Ataxia 25/25 Dementia 14/25 Seizures 12/25 Nystagmus 9/25 Chorea 7/25 Myoclonus 6/25 Abnormal pyramidal signs 5/25 Autosomal dominant inheritance - Choreoathetosis - Genetic anticipation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dentatorubral-pallidoluysian atrophy +What causes Dentatorubral-pallidoluysian atrophy ?,"What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that causes DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row on the gene. Normally, this CAG segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times (and sometimes much more). The abnormally long CAG trinucleotide repeat changes the structure of the atrophin 1 protein, which then accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to the signs and symptoms associated with DRPLA.",GARD,Dentatorubral-pallidoluysian atrophy +Is Dentatorubral-pallidoluysian atrophy inherited ?,How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited?,GARD,Dentatorubral-pallidoluysian atrophy +What are the treatments for Dentatorubral-pallidoluysian atrophy ?,How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include: Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Adaptation of environment and care to the level of dementia Adaptation of educational programs for affected children.,GARD,Dentatorubral-pallidoluysian atrophy +What is (are) Cleidocranial dysplasia ?,"Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations (de novo mutations) in the RUNX2 gene. Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect.",GARD,Cleidocranial dysplasia +What are the symptoms of Cleidocranial dysplasia ?,"What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the shoulder 90% Frontal bossing 90% Hypertelorism 90% Increased number of teeth 90% Recurrent respiratory infections 90% Short stature 90% Skeletal dysplasia 90% Wormian bones 90% Abnormality of the ribs 50% Abnormality of the sacrum 50% Brachydactyly syndrome 50% Decreased skull ossification 50% Delayed eruption of teeth 50% Dental malocclusion 50% Hearing impairment 50% Narrow chest 50% Otitis media 50% Reduced bone mineral density 50% Sinusitis 50% Sloping forehead 50% Small face 50% Abnormality of epiphysis morphology 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the thumb 7.5% Apnea 7.5% Cleft palate 7.5% Genu valgum 7.5% Macrocephaly 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Tapered finger 7.5% Abnormal facility in opposing the shoulders - Absent frontal sinuses - Absent paranasal sinuses - Aplastic clavicles - Autosomal dominant inheritance - Cervical ribs - Cone-shaped epiphyses of the phalanges of the hand - Coxa vara - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Delayed pubic bone ossification - Depressed nasal bridge - High palate - Hypoplasia of dental enamel - Hypoplasia of midface - Hypoplastic frontal sinuses - Hypoplastic iliac wing - Hypoplastic scapulae - Increased bone mineral density - Increased susceptibility to fractures - Kyphosis - Large foramen magnum - Long second metacarpal - Malar flattening - Moderately short stature - Narrow palate - Neonatal respiratory distress - Parietal bossing - Persistent open anterior fontanelle - Short clavicles - Short femoral neck - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - Short ribs - Spondylolisthesis - Spondylolysis - Syringomyelia - Thickened calvaria - Wide pubic symphysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleidocranial dysplasia +What causes Cleidocranial dysplasia ?,"What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a ""master switch,"" regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene.",GARD,Cleidocranial dysplasia +Is Cleidocranial dysplasia inherited ?,"How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo mutations (new mutations) in the gene. These cases occur in people with no history of the disorder in their family.",GARD,Cleidocranial dysplasia +What are the treatments for Cleidocranial dysplasia ?,"What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements of calcium and vitamin D if their bone density is below normal, and preventive treatment for osteoporosis is usually started at a young age. Some affected individuals may need ear tubes if they have frequent ear infections. If the cranial vault defect is serious, it is important to protect the head wearing helmets during high-risk activities. Surgery may be needed to correct a depressed forehead or for the enlargement of small clavicles.",GARD,Cleidocranial dysplasia +What is (are) La Crosse encephalitis ?,"La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are reported each year in the United States. Most cases occur in children younger than age 16. While most people who become infected have no symptoms, those who do become ill may have fever, headache, vomiting and lethargy (tiredness). Severe cases develop encephalitis accompanied by seizures. Coma and paralysis occur in some cases. There is no specific treatment for LAC encephalitis. Supportive therapy is provided to those who develop severe cases of the disease.",GARD,La Crosse encephalitis +What are the symptoms of La Crosse encephalitis ?,"What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizures. Coma and paralysis may also occur. Most cases that develop symptoms occur in children under the age of 16 Symptoms, if present, typically develop 5 to 15 days after the bite of an infected mosquito. Most cases occur during the summer months.",GARD,La Crosse encephalitis +What are the treatments for La Crosse encephalitis ?,"How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[9633]",GARD,La Crosse encephalitis +What is (are) Muir-Torre syndrome ?,"Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.",GARD,Muir-Torre syndrome +What are the symptoms of Muir-Torre syndrome ?,"What are the signs and symptoms of Muir-Torre syndrome? Sebaceous adenoma is the most characteristic finding in people with Muir-Torre syndrome (MTS). Other types of skin tumors in affected people include sebaceous epitheliomas, sebaceous carcinomas (which commonly occur on the eyelids) and keratoacanthomas. Sebaceous carcinoma of the eyelid can invade the orbit of the eye and frequently metastasize, leading to death. Tumors at other sites can also metastasize, but are less likely to cause death. Common sites of keratocathomas include the face and the upper side of the hands, but they can occur anywhere on the body. The most common internal cancer in people with MTS is colorectal cancer, occurring in almost half of affected people. The second most common site is the genitourinary tract. Other cancers that may occur include breast cancer, lymphoma, leukemia (rarely), salivary gland tumors, lower and upper respiratory tract tumors, and chondrosarcoma. Intestinal polyps as well as various benign tumors may also occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Muir-Torre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenoma sebaceum 90% Neoplasm of the colon 50% Neoplasm of the stomach 50% Hematological neoplasm 7.5% Neoplasm of the breast 7.5% Neoplasm of the liver 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Uterine neoplasm 7.5% Autosomal dominant inheritance - Basal cell carcinoma - Benign gastrointestinal tract tumors - Benign genitourinary tract neoplasm - Breast carcinoma - Colon cancer - Colonic diverticula - Duodenal adenocarcinoma - Laryngeal carcinoma - Malignant genitourinary tract tumor - Sebaceous gland carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muir-Torre syndrome +What causes Muir-Torre syndrome ?,"What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases. Mutations in MLH1 and MSH2 have the most severe effect. Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.",GARD,Muir-Torre syndrome +Is Muir-Torre syndrome inherited ?,"How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal dominant condition has children, each child has 50% (1 in 2) chance to inherit the mutated copy of the responsible gene. It is important to note that people who inherit a mutated gene that causes MTS inherit an increased risk of cancer, not the disease itself. Not all people who inherit a mutation in an associated gene will develop cancer. This phenomenon is called reduced penetrance. The majority of people diagnosed with a form of Lynch syndrome have inherited the mutated gene from a parent. However, because not all people with a mutation develop cancer, and the variable age at which cancer may develop, not all people with a mutation have a parent who had cancer. Thus, the family history may appear negative. A positive family history of MTS is identified in roughly 50% of affected people. The percentage of people with Lynch syndrome who have a new mutation in the gene that occurred for the first time (and was not inherited from a parent) is unknown but is estimated to be extremely low.",GARD,Muir-Torre syndrome +How to diagnose Muir-Torre syndrome ?,"How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related cancers The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.",GARD,Muir-Torre syndrome +What are the symptoms of Autosomal dominant caf au lait spots ?,"What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cafe-au-lait spot 90% Freckling 7.5% Autosomal dominant inheritance - Lisch nodules - Multiple cafe-au-lait spots - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant caf au lait spots +What are the symptoms of Renal dysplasia megalocystis sirenomelia ?,"What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 50% Aplasia/Hypoplasia of the sacrum 50% Multicystic kidney dysplasia 50% Renal hypoplasia/aplasia 50% Sirenomelia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal dysplasia megalocystis sirenomelia +What is (are) Schwannomatosis ?,"Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.",GARD,Schwannomatosis +What are the symptoms of Schwannomatosis ?,"What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, although they are less common on the vestibular nerve (vestibular schwannomas, also known as acoustic neuromas). People with vestibular schwannomas, especially those with tumors affecting the vestibular nerve on both sides of the head (bilateral), may have neurofibromatosis type 2 instead. The signs and symptoms associated with schwannomatosis vary based on the size and location of the schwannomas. The most common symptom is chronic pain, which can develop as a growing schwannoma presses on nerves or surrounding tissues. Some people may develop a mass if the schwannomas is located just beneath the skin. Others can experience neurological symptoms such as numbness; tingling; and/or weakness in the fingers and toes. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwannomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Abnormality of the vertebral column - Autosomal dominant inheritance - Incomplete penetrance - Meningioma - Schwannoma - Somatic mutation - Spinal cord tumor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schwannomatosis +What causes Schwannomatosis ?,"What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in these genes result in abnormal proteins that are unable to carry out their normal roles. This contributes to the development of the many different types of tumors found in schwannomatosis. When schwannomatosis is caused by a mutation in SMARCB1 or LZTR1, the affected person is typically born with one mutated copy of the gene in each cell and is, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the gene must be altered. The mutation in the second copy of the gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. In affected people without a mutation in SMARCB1 or LZTR1, the underlying cause of the condition is unknown.",GARD,Schwannomatosis +Is Schwannomatosis inherited ?,"Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation.",GARD,Schwannomatosis +How to diagnose Schwannomatosis ?,"How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). This may include: Tumor pathology confirming that the growths are, in fact, schwannomas Imaging studies, such as an MRI examining the vestibular nerve. It is important to rule out the presence of bilateral (affecting both sides) vestibular schwannomas which would be suggestive of neurofibromatosis type 2 rather than schwannomatosis Genetic testing for a change (mutation) in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis.",GARD,Schwannomatosis +What are the treatments for Schwannomatosis ?,"How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients. If pain cannot be managed with other means or if the schwannomas are causing other symptoms, they can be surgically removed. However this treatment is often used as a last resort because surgery may put patients at risk of further neurologic problems.",GARD,Schwannomatosis +What are the symptoms of Spastic ataxia Charlevoix-Saguenay type ?,"What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Autosomal recessive inheritance - Babinski sign - Cerebellar vermis atrophy - Decreased nerve conduction velocity - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Dysmetria - Falls - Hammertoe - Hyperreflexia - Impaired smooth pursuit - Impaired vibration sensation in the lower limbs - Infantile onset - Intellectual disability - Loss of Purkinje cells in the cerebellar vermis - Nystagmus - Pes cavus - Progressive gait ataxia - Progressive truncal ataxia - Scanning speech - Spastic ataxia - Spasticity - Swan neck-like deformities of the fingers - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic ataxia Charlevoix-Saguenay type +What is (are) Sideroblastic anemia ?,"Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with these anemias. Sideroblastic anemias are classified as hereditary, acquired, and reversible.",GARD,Sideroblastic anemia +What are the symptoms of Sideroblastic anemia ?,"What are the symptoms of sideroblastic anemia? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales.",GARD,Sideroblastic anemia +What causes Sideroblastic anemia ?,"What causes sideroblastic anemia? The exact cause of sideroblastic anemia in many patients remains unknown. Reversible sideroblastic anemia can be caused by alcohol, isoniazid, pyrazinamide, cycloserine (a prescription antibiotic that may cause anemia, peripheral neuritis, or seizures by acting as a pyridoxine antagonist or increasing excretion of pyridoxine), chloramphenicol, or copper deficiency. The hereditary forms may be passed through families in autosomal recessive, autosomal dominant, or X-linked patterns.",GARD,Sideroblastic anemia +How to diagnose Sideroblastic anemia ?,"How is sideroblastic anemia diagnosed? The principle feature of sideroblastic anemia is slowly progressive, mild, life-long anemia which often goes unnoticed. Symptoms of iron overload may lead to the discovery of this underlying disorder. The history and clinical findings, together with laboratory findings, usually permit accurate diagnosis of each type. Laboratory evaluation may include complete blood count, iron studies, free erythrocyte protoporphyrin levels, MRI, bone marrow aspiration and liver biopsy. Molecular defects can be identified in several hereditary forms and in some patients with acquired sideroblastic anemia.",GARD,Sideroblastic anemia +What are the treatments for Sideroblastic anemia ?,"How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. Folic acid supplementation may also be beneficial. Those that do not respond to vitamin supplementation require blood transfusion. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.",GARD,Sideroblastic anemia +What is (are) Rett syndrome ?,"Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental ""plateau,"" and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.",GARD,Rett syndrome +What are the symptoms of Rett syndrome ?,"What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rett syndrome +What causes Rett syndrome ?,"What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.",GARD,Rett syndrome +Is Rett syndrome inherited ?,"Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.",GARD,Rett syndrome +What are the symptoms of Kleefstra syndrome ?,"What are the signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Cognitive impairment 90% Hypertelorism 90% Intellectual disability 90% Malar flattening 90% Muscular hypotonia 90% Neurological speech impairment 90% Short nose 90% Tented upper lip vermilion 90% Abnormality of the aorta 50% Abnormality of the aortic valve 50% Arrhythmia 50% Autism 50% Brachycephaly 50% Broad forehead 50% Coarse facial features 50% Constipation 50% Delayed speech and language development 50% Hearing impairment 50% Highly arched eyebrow 50% Macroglossia 50% Mandibular prognathia 50% Microcephaly 50% Obesity 50% Otitis media 50% Protruding tongue 50% Sleep disturbance 50% Synophrys 50% Thickened helices 50% Upslanted palpebral fissure 50% U-Shaped upper lip vermilion 50% Ventricular septal defect 50% Aggressive behavior 33% Cryptorchidism 33% Hypospadias 33% Micropenis 33% Recurrent respiratory infections 33% Stereotypic behavior 33% Seizures 30% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Bowel incontinence 7.5% Cerebral cortical atrophy 7.5% Delayed eruption of teeth 7.5% Developmental regression 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hernia 7.5% Limitation of joint mobility 7.5% Natal tooth 7.5% Persistence of primary teeth 7.5% Pyloric stenosis 7.5% Renal cyst 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Self-injurious behavior 7.5% Short stature 7.5% Supernumerary nipple 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Gastroesophageal reflux 5% Apathy 1% Tracheobronchomalacia 1% Microcephaly 8/22 Hearing impairment 3/22 Autosomal dominant inheritance - Brachydactyly syndrome - Flat face - Hypoplasia of midface - Intellectual disability, severe - Obsessive-compulsive behavior - Single transverse palmar crease - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kleefstra syndrome +What are the symptoms of Benign recurrent intrahepatic cholestasis ?,"What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of urine homeostasis 90% Anorexia 90% Elevated hepatic transaminases 90% Pruritus 90% Weight loss 90% Nausea and vomiting 50% Abdominal pain 7.5% Biliary tract abnormality 7.5% Cirrhosis 7.5% Hearing impairment 7.5% Malabsorption 7.5% Neoplasm of the liver 7.5% Pancreatitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Benign recurrent intrahepatic cholestasis +What is (are) Nance-Horan syndrome ?,"Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual.",GARD,Nance-Horan syndrome +What are the symptoms of Nance-Horan syndrome ?,"What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the lens (cornea) of both eyes at birth (congenital bilateral cataracts). The cataracts usually result in blurred vision and severely decreased clearness or clarity of vision (visual acuity). Vision loss can potentially be profound. Males with Nance-Horan syndrome may have additional eye abnormalities, including a very small cornea (microcornea); involuntary movements of the eyes (nystagmus), and/or misalignment of the eyes (strabismus). In some cases, the entire eye may be abnormally small (microphthalmia) and/or the upper eyelid may droop (ptosis). Males with Nance-Horan syndrome may also have several dental abnormalities such as unusually shaped, extra (supernumerary) teeth, absence of some teeth (dental agenesis), impacted teeth or unusually wide spaces (diastema) between some of the teeth. The front teeth, or incisors, are usually tapered and 'screwdriver-shaped'. The teeth in the back of the mouth may be cone-shaped, rounded, or cylindrical. In many males with Nance-Horan syndrome, other physical findings may also occur. Distinctive facial features may be present, but may be subtle. The ears may be flared forward and unusually prominent. Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face. Some males with Nance-Horan syndrome may also experience delays the skills necessary for coordinating muscular and mental activity. In addition, some reports suggest that approximately 20 to 30 percent of affected males may have varying levels of intellectual disability, which is usually mild to moderate; but in some cases can be severe. Females who carry a single copy of the mutation in the NHS gene may develop some symptoms of the disorder. However, symptoms are usually milder and more variable than those seen in males. Affected females may have abnormally small corneas (microcornea) and/or some clouding of the cornea. Vision may be normal, or there may be slightly decreased visual acuity. Without appropriate treatment, clouding of the cornea can lead to total cataracts later in life. Females often have some dental abnormalities, such as abnormally-shaped front teeth and/or unusually wide spaces between some of the teeth. Affected females usually do not develop intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Nance-Horan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Cataract 90% Long face 90% Mandibular prognathia 90% Microcornea 90% Nystagmus 90% Prominent nasal bridge 90% Visual impairment 90% Intellectual disability, moderate 80% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Increased number of teeth 50% Strabismus 50% Aplasia/Hypoplasia affecting the eye 7.5% Behavioral abnormality 7.5% Glaucoma 7.5% Retinal detachment 7.5% Autism - Broad finger - Congenital cataract - Diastema - Macrotia - Microphthalmia - Narrow face - Posterior Y-sutural cataract - Prominent nose - Screwdriver-shaped incisors - Short phalanx of finger - Supernumerary maxillary incisor - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nance-Horan syndrome +What causes Nance-Horan syndrome ?,"What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious.",GARD,Nance-Horan syndrome +Is Nance-Horan syndrome inherited ?,"How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome.",GARD,Nance-Horan syndrome +What is (are) Hypoplastic left heart syndrome ?,"Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. Babies with HLHS might look normal at birth, but will develop symptoms of HLHS within a few days. These symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. The cause of HLHs is presently unknown.",GARD,Hypoplastic left heart syndrome +What are the symptoms of Hypoplastic left heart syndrome ?,"What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At birth, all babies also have two connections, or shunts, between the two sides of the heart; however, within a few days of birth these connections close. In those with HLHS, the underdeveloped left side of the heart is unable to provide enough blood flow to the body. The normal shunts present at birth help to direct blood to the body; when these connections close the oxygen-rich blood supply decreases. At first, a newborn with HLHS may appear normal. Symptoms usually occur in the first few hours of life, although it may take up to a few days to develop symptoms. These symptoms may include: Bluish (cyanosis) or poor skin color Cold hands and feet (extremities) Lethargy Poor pulse Poor suckling and feeding Pounding heart Rapid breathing Shortness of breath In healthy newborns, bluish color in the hands and feet is a response to cold (this reaction is called peripheral cyanosis). However, a bluish color in the chest or abdomen, lips, and tongue is abnormal (called central cyanosis). It is a sign that there is not enough oxygen in the blood. Central cyanosis often increases with crying. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoplastic left heart syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplastic left heart 90% Abnormality of the aorta 50% Abnormality of chromosome segregation 7.5% Abnormality of the mitral valve 7.5% Atria septal defect 7.5% Maternal diabetes 7.5% Patent ductus arteriosus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypoplastic left heart syndrome +What are the treatments for Hypoplastic left heart syndrome ?,"How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. These measures do not solve the problem and ultimately, the baby will require surgery. The first surgery, called the Norwood operation, occurs within the baby's first few days of life. Stage I of the Norwood procedure consists of building a new aorta by: Using the pulmonary valve and artery Connecting the hypoplastic old aorta and coronary arteries to the new aorta Removing the wall between the atria (atrial septum) Making an artificial connection from either the right ventricle or a body-wide artery to the pulmonary artery to maintain blood flow to the lungs (called a shunt) Afterwards, the baby usually goes home. The child will need to take daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or hemi-Fontan procedure. This procedure connects the major vein carrying blue blood from the top half of the body (the superior vena cava) directly to blood vessels to the lungs (pulmonary arteries) to get oxygen. The surgery is usually done when the child is 4 to 6 months of age. During stages I and II, the child may still appear somewhat blue (cyanotic).Stage III, the final step, is called the Fontan procedure. The rest of the veins that carry blue blood from the body (the inferior vena cava) are connected directly to the blood vessels to the lungs. The right ventricle now serves only as the pumping chamber for the body (no longer the lungs and the body). This surgery is usually performed when the baby is 18 months - 3 years old. After this final step, the baby is no longer blue. Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure. In some hospitals, heart transplantation is considered a better choice than the three-step surgery process. However, there are few donated hearts available for small infants.",GARD,Hypoplastic left heart syndrome +What are the symptoms of Thin basement membrane nephropathy ?,"What are the signs and symptoms of Thin basement membrane nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Thin basement membrane nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hematuria - Nonprogressive - Thin glomerular basement membrane - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thin basement membrane nephropathy +What are the symptoms of Multiple endocrine neoplasia type 2B ?,"What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Aganglionic megacolon - Autosomal dominant inheritance - Colonic diverticula - Constipation - Diarrhea - Disproportionate tall stature - Elevated calcitonin - Elevated urinary epinephrine - Failure to thrive in infancy - Ganglioneuroma - High palate - Hyperlordosis - Joint laxity - Kyphosis - Medullary thyroid carcinoma - Muscular hypotonia - Myopathy - Nodular goiter - Parathyroid hyperplasia - Pectus excavatum - Pes cavus - Pheochromocytoma - Proximal femoral epiphysiolysis - Scoliosis - Thick eyebrow - Thick lower lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple endocrine neoplasia type 2B +What is (are) Chromosome 8q deletion ?,"Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 8q deletion +What are the symptoms of Multiple epiphyseal dysplasia 4 ?,"What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Osteoarthritis 90% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Patellar aplasia 50% Scoliosis 50% Talipes 50% Hearing abnormality 7.5% Short stature 7.5% Autosomal recessive inheritance - Brachydactyly syndrome - Epiphyseal dysplasia - Flat capital femoral epiphysis - Hip dysplasia - Hypoplasia of the femoral head - Limited elbow flexion - Multiple epiphyseal dysplasia - Short metacarpal - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple epiphyseal dysplasia 4 +What are the symptoms of Flynn Aird syndrome ?,"What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Myopia 90% Sensorineural hearing impairment 90% Visual impairment 90% Abnormality of retinal pigmentation 50% Atherosclerosis 50% Bone cyst 50% Carious teeth 50% Cataract 50% Decreased body weight 50% Developmental regression 50% EEG abnormality 50% Impaired pain sensation 50% Incoordination 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Scoliosis 50% Seizures 50% Skeletal muscle atrophy 50% Skin ulcer 50% Abnormality of movement 7.5% Abnormality of the thyroid gland 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Primary adrenal insufficiency 7.5% Type II diabetes mellitus 7.5% Alopecia - Aphasia - Ataxia - Autosomal dominant inheritance - Dementia - Dermal atrophy - Hyperkeratosis - Increased bone density with cystic changes - Increased CSF protein - Joint stiffness - Kyphoscoliosis - Osteoporosis - Progressive sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Flynn Aird syndrome +What are the symptoms of Osteoglophonic dysplasia ?,"What are the signs and symptoms of Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Craniosynostosis 90% Hypertelorism 90% Reduced number of teeth 90% Short stature 90% Abnormality of the clavicle 50% Abnormality of the pinna 50% Anteverted nares 50% Delayed skeletal maturation 50% Limb undergrowth 50% Abnormality of bone mineral density 7.5% Brachydactyly syndrome 7.5% Choanal atresia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Scoliosis 7.5% Abnormality of the nasopharynx - Autosomal dominant inheritance - Bowing of the long bones - Broad foot - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanx - Chordee - Cloverleaf skull - Delayed speech and language development - Depressed nasal bridge - Failure to thrive - Frontal bossing - High palate - Hypoplasia of midface - Hypoplastic scapulae - Hypoplastic toenails - Hypospadias - Increased susceptibility to fractures - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Mandibular prognathia - Nasal obstruction - Platyspondyly - Pseudoarthrosis - Respiratory distress - Rhizomelia - Shallow orbits - Short foot - Short metacarpal - Short metatarsal - Short neck - Short nose - Short palm - Short phalanx of finger - Unerupted tooth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteoglophonic dysplasia +What are the symptoms of Cerebellar hypoplasia tapetoretinal degeneration ?,"What are the signs and symptoms of Cerebellar hypoplasia tapetoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar hypoplasia tapetoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Optic atrophy 90% Visual impairment 90% Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebellar hypoplasia tapetoretinal degeneration +What is (are) Moebius syndrome ?,"Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy.",GARD,Moebius syndrome +What are the symptoms of Moebius syndrome ?,"What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Mask-like facies 90% Open mouth 90% Ophthalmoparesis 90% Ptosis 90% Strabismus 90% Delayed speech and language development 55% Aplasia of the pectoralis major muscle 50% Brachydactyly syndrome 50% Feeding difficulties in infancy 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Talipes 50% Hypertelorism 25% Bifid uvula 11% Abnormality of the sense of smell 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the tongue 7.5% Autism 7.5% Blepharitis 7.5% Breast aplasia 7.5% Cafe-au-lait spot 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Skeletal muscle atrophy 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nail - Abnormality of the nasopharynx - Abnormality of the pinna - Abnormality of the posterior cranial fossa - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Camptodactyly - Clinodactyly - Clumsiness - Congenital fibrosis of extraocular muscles - Decreased testicular size - Depressed nasal bridge - Dysarthria - Dysdiadochokinesis - Dysphagia - Esotropia - Exotropia - Facial diplegia - Gait disturbance - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the brainstem - Infantile muscular hypotonia - Intellectual disability, mild - Lower limb undergrowth - Micropenis - Microphthalmia - Motor delay - Pes planus - Phenotypic variability - Poor coordination - Radial deviation of finger - Respiratory difficulties - Short neck - Short phalanx of finger - Split hand - Sporadic - Syndactyly - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Moebius syndrome +Is Moebius syndrome inherited ?,"Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families. In some families the pattern has been suggestive of autosomal dominant inheritance, while in other families it has been suggestive of autosomal recessive or X-linked recessive inheritance.",GARD,Moebius syndrome +What are the symptoms of Dengue fever ?,"What are the signs and symptoms of Dengue fever? The Human Phenotype Ontology provides the following list of signs and symptoms for Dengue fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Migraine 90% Abdominal pain 50% Arthralgia 50% Pruritus 50% Skin rash 50% Ascites 7.5% Bruising susceptibility 7.5% Diarrhea 7.5% Epistaxis 7.5% Gastrointestinal hemorrhage 7.5% Gingival bleeding 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypotension 7.5% Intracranial hemorrhage 7.5% Leukopenia 7.5% Nausea and vomiting 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dengue fever +"What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ?","Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. BPES type 2 consists only of the eyelid malformations, whereas BPES type 1 also causes premature ovarian failure. It is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner. Treatment typically consists of various eyelid surgeries to correct the malformations.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2" +"What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ?","What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2" +"What is (are) 48,XXYY syndrome ?","48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment. Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up.",GARD,"48,XXYY syndrome" +"What are the symptoms of 48,XXYY syndrome ?","What are signs and symptoms of 48,XXYY syndrome? 48,XXYY affects various body systems including disruption of male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children (infertility). 48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age. They tend to develop a tremor that typically starts as a young adult and worsens with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, allergies, asthma, type 2 diabetes, seizures, and congenital heart defects. Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. Learning disabilities, especially reading problems, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and/or autism spectrum disorders, which affect communication and social interaction.",GARD,"48,XXYY syndrome" +"What causes 48,XXYY syndrome ?","What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.[5209]",GARD,"48,XXYY syndrome" +"Is 48,XXYY syndrome inherited ?","Can 48,XXYY syndrome be inherited?",GARD,"48,XXYY syndrome" +What is (are) Renal tubular acidosis with deafness ?,"Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.",GARD,Renal tubular acidosis with deafness +What are the symptoms of Renal tubular acidosis with deafness ?,"What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Nephrolithiasis - Renal tubular acidosis - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal tubular acidosis with deafness +What are the symptoms of Orofaciodigital syndrome 5 ?,"What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 5 +"What is (are) Syndromic microphthalmia, type 3 ?","Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,"Syndromic microphthalmia, type 3" +"What are the symptoms of Syndromic microphthalmia, type 3 ?","What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Tracheoesophageal fistula 90% Abnormal form of the vertebral bodies 50% Aplasia/Hypoplasia of the corpus callosum 50% Cryptorchidism 50% External ear malformation 50% Visual impairment 50% Abnormality of the ribs 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Hypoplasia of penis 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Sclerocornea 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Anophthalmia - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Butterfly vertebrae - Coloboma - Esophageal atresia - Frontal bossing - Hemivertebrae - Hypogonadotrophic hypogonadism - Hypoplasia of the corpus callosum - Hypospadias - Hypothalamic hamartoma - Microcephaly - Micropenis - Microphthalmia - Missing ribs - Muscular hypotonia - Optic nerve hypoplasia - Postnatal growth retardation - Rib fusion - Sensorineural hearing impairment - Short stature - Spastic diplegia - Spastic tetraplegia - Specific learning disability - Supernumerary ribs - Vertebral fusion - Vertebral hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Syndromic microphthalmia, type 3" +What is (are) Glioma ?,"Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy.",GARD,Glioma +What are the symptoms of Phosphoglycerate kinase deficiency ?,"What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7.5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Phosphoglycerate kinase deficiency +What are the symptoms of Glycosylphosphatidylinositol deficiency ?,"What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hepatomegaly - Portal hypertension - Portal vein thrombosis - Seizures - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycosylphosphatidylinositol deficiency +What is (are) Hypohidrotic ectodermal dysplasia ?,"Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).",GARD,Hypohidrotic ectodermal dysplasia +How to diagnose Hypohidrotic ectodermal dysplasia ?,"Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis. Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Hypohidrotic ectodermal dysplasia +What are the treatments for Hypohidrotic ectodermal dysplasia ?,"How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal body temperature, they should frequently drink cool liquids and wear cool clothing. Dental defects can be managed with dentures and implants. Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. Surgery to repair a cleft palate is also helpful in improving speech and facial deformities.",GARD,Hypohidrotic ectodermal dysplasia +What is (are) Gangliocytoma ?,"Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor. Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).",GARD,Gangliocytoma +What are the symptoms of Gangliocytoma ?,"What are the signs and symptoms of gangliocytomas? Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms. Gangliocytomas can also be asymptomatic (cause no symptoms) and may be diagnosed incidentally on imaging studies.",GARD,Gangliocytoma +What is (are) Citrullinemia type I ?,"Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern.",GARD,Citrullinemia type I +What are the symptoms of Citrullinemia type I ?,"What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness. Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy. Episodes of high blood ammonia often happen after going without food for long periods of time, during illness or infection or after high-protein meals. Some people with gene mutations that cause citrullinemia type I never experience signs and symptoms of the disorder and are only found to be affected after a brother or sister is diagnosed. The Human Phenotype Ontology provides the following list of signs and symptoms for Citrullinemia type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hepatomegaly - Hyperammonemia - Hyperglutaminemia - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Neonatal onset - Oroticaciduria - Phenotypic variability - Protein avoidance - Respiratory alkalosis - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Citrullinemia type I +What causes Citrullinemia type I ?,"What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition.",GARD,Citrullinemia type I +Is Citrullinemia type I inherited ?,"How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Citrullinemia type I +What are the treatments for Citrullinemia type I ?,"What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life.",GARD,Citrullinemia type I +What is (are) Turner syndrome ?,"Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a ""webbed"" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.",GARD,Turner syndrome +What are the symptoms of Turner syndrome ?,"What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Turner syndrome +What causes Turner syndrome ?,"What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.",GARD,Turner syndrome +Is Turner syndrome inherited ?,"Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional.",GARD,Turner syndrome +What are the symptoms of Spinocerebellar ataxia 17 ?,"What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Apraxia - Autosomal dominant inheritance - Bradykinesia - Broad-based gait - Cerebellar atrophy - Chorea - Confusion - Depression - Diffuse cerebral atrophy - Dysarthria - Dysmetria - Dysphagia - Dystonia - Frontal lobe dementia - Frontal release signs - Gait ataxia - Gaze-evoked nystagmus - Gliosis - Hallucinations - Impaired pursuit initiation and maintenance - Intention tremor - Lack of insight - Limb ataxia - Mutism - Myoclonus - Neuronal loss in central nervous system - Paranoia - Parkinsonism - Positive Romberg sign - Progressive - Rigidity - Seizures - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 17 +What are the symptoms of Ulna metaphyseal dysplasia syndrome ?,"What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ulna metaphyseal dysplasia syndrome +What are the symptoms of Familial renal cell carcinoma ?,"What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal cell carcinoma - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial renal cell carcinoma +What is (are) Paramyotonia congenita ?,"Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.",GARD,Paramyotonia congenita +What are the symptoms of Paramyotonia congenita ?,"What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 5% Autosomal dominant inheritance - Feeding difficulties - Handgrip myotonia - Infantile onset - Inspiratory stridor - Muscle stiffness - Muscle weakness - Myalgia - Paradoxical myotonia - Percussion myotonia - Phenotypic variability - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paramyotonia congenita +What is (are) Birdshot chorioretinopathy ?,"Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a ""birdshot"" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease. Treatment may include medications that aim to regulate the body's immune response.",GARD,Birdshot chorioretinopathy +What are the symptoms of Birdshot chorioretinopathy ?,"What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Birdshot chorioretinopathy +What are the treatments for Birdshot chorioretinopathy ?,"What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response. Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine.",GARD,Birdshot chorioretinopathy +What are the symptoms of Patent ductus venosus ?,"What are the signs and symptoms of Patent ductus venosus? The Human Phenotype Ontology provides the following list of signs and symptoms for Patent ductus venosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital portosystemic venous shunt - Decreased liver function - Hepatic encephalopathy - Hepatic steatosis - Hyperammonemia - Hypergalactosemia - Persistent patent ductus venosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Patent ductus venosus +What is (are) Intestinal pseudo-obstruction ?,"Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.",GARD,Intestinal pseudo-obstruction +What are the symptoms of Lung agenesis ?,"What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Respiratory insufficiency 90% Abnormal lung lobation 50% Abnormality of the aorta 50% Anomalous pulmonary venous return 50% Aplasia/Hypoplasia of the lungs 50% Atria septal defect 50% Patent ductus arteriosus 50% Abnormality of the aortic valve 7.5% Abnormality of the helix 7.5% Abnormality of the ribs 7.5% Abnormality of the tricuspid valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Complete atrioventricular canal defect 7.5% Congenital diaphragmatic hernia 7.5% Preaxial hand polydactyly 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Short distal phalanx of finger 7.5% Single transverse palmar crease 7.5% Spina bifida 7.5% Triphalangeal thumb 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Abnormality of the cardiac septa - Autosomal recessive inheritance - Bilateral lung agenesis - Coarctation of aorta - Congenital onset - Neonatal death - Tracheal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lung agenesis +What is (are) Littoral cell angioma of the spleen ?,"Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy).",GARD,Littoral cell angioma of the spleen +What are the symptoms of Late-onset retinal degeneration ?,"What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult-onset night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Late-onset retinal degeneration +"What are the symptoms of Escobar syndrome, type B ?","What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Escobar syndrome, type B" +What are the symptoms of Tricho-dento-osseous syndrome ?,"What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tricho-dento-osseous syndrome +What are the symptoms of Frias syndrome ?,"What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frias syndrome +What are the symptoms of Hairy elbows ?,"What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the elbow 90% Abnormality of the mandible 90% Hypertrichosis 90% Micromelia 90% Short stature 90% Facial asymmetry 50% Neurological speech impairment 50% Round face 50% Abnormality of the neck 7.5% Cognitive impairment 7.5% Delayed skeletal maturation 7.5% High forehead 7.5% Joint hypermobility 7.5% Microcephaly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Thick eyebrow 7.5% Autosomal dominant inheritance - Elbow hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hairy elbows +What are the symptoms of Kozlowski Celermajer Tink syndrome ?,"What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kozlowski Celermajer Tink syndrome +What is (are) Wolff-Parkinson-White syndrome ?,"Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner.",GARD,Wolff-Parkinson-White syndrome +What are the symptoms of Wolff-Parkinson-White syndrome ?,"What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cardiomyopathy - Palpitations - Paroxysmal atrial fibrillation - Paroxysmal supraventricular tachycardia - Prolonged QRS complex - Shortened PR interval - Stroke - Sudden cardiac death - Ventricular preexcitation with multiple accessory pathways - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wolff-Parkinson-White syndrome +What causes Wolff-Parkinson-White syndrome ?,"What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This extra electrical pathway is present at birth. A mutation in the PRKAG2 gene is the cause of a small percentage of cases of the disorder. Otherwise, little is known about why this extra pathway develops.",GARD,Wolff-Parkinson-White syndrome +Is Wolff-Parkinson-White syndrome inherited ?,Is Wolff-Parkinson-White syndrome inherited?,GARD,Wolff-Parkinson-White syndrome +"What are the symptoms of Taurodontism, microdontia, and dens invaginatus ?","What are the signs and symptoms of Taurodontism, microdontia, and dens invaginatus? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontism, microdontia, and dens invaginatus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microdontia - Pulp stones - Taurodontia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Taurodontism, microdontia, and dens invaginatus" +What is (are) Pontocerebellar hypoplasia type 2 ?,"Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Pontocerebellar hypoplasia type 2 +What are the symptoms of Pontocerebellar hypoplasia type 2 ?,"What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pontocerebellar hypoplasia type 2 +What are the symptoms of Baraitser Brett Piesowicz syndrome ?,"What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Baraitser Brett Piesowicz syndrome +What are the symptoms of Alpha-mannosidosis type 1 ?,"What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Cataract 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hearing impairment 90% Hepatomegaly 90% Opacification of the corneal stroma 90% Skeletal dysplasia 90% Splenomegaly 90% Type II diabetes mellitus 90% Abnormality of the helix 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Bowing of the long bones 50% Dental malocclusion 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hypertelorism 50% Kyphosis 50% Macrotia 50% Muscular hypotonia 50% Otitis media 50% Prominent supraorbital ridges 50% Scoliosis 50% Short neck 50% Arthritis 7.5% Aseptic necrosis 7.5% Hallucinations 7.5% Increased intracranial pressure 7.5% Macrocephaly 7.5% Mandibular prognathia 7.5% Recurrent respiratory infections 7.5% Synostosis of joints 7.5% Abnormality of the rib cage - Autosomal recessive inheritance - Babinski sign - Broad forehead - Cerebellar atrophy - Decreased antibody level in blood - Depressed nasal ridge - Dysarthria - Dysostosis multiplex - Epicanthus - Femoral bowing - Flat occiput - Frontal bossing - Gait ataxia - Growth delay - Hyperreflexia - Hypertrichosis - Hypoplasia of midface - Impaired smooth pursuit - Increased vertebral height - Inguinal hernia - Intellectual disability - Limb ataxia - Low anterior hairline - Macroglossia - Malar flattening - Nystagmus - Pectus carinatum - Progressive retinal degeneration - Recurrent bacterial infections - Sensorineural hearing impairment - Spasticity - Spinocerebellar tract disease in lower limbs - Spondylolisthesis - Thick eyebrow - Thickened calvaria - Thoracolumbar kyphosis - Vacuolated lymphocytes - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alpha-mannosidosis type 1 +What are the symptoms of Harrod Doman Keele syndrome ?,"What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Harrod Doman Keele syndrome +"What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ?","What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" +What is (are) Williams syndrome ?,"Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.",GARD,Williams syndrome +What are the symptoms of Williams syndrome ?,"What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal nasal morphology 90% Abnormality of extrapyramidal motor function 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the aortic valve 90% Abnormality of the neck 90% Abnormality of the tongue 90% Abnormality of the voice 90% Attention deficit hyperactivity disorder 90% Blepharophimosis 90% Broad forehead 90% Coarse facial features 90% Cognitive impairment 90% Dental malocclusion 90% Elfin facies 90% Epicanthus 90% Gait disturbance 90% High forehead 90% Hyperacusis 90% Hypercalcemia 90% Hypermetropia 90% Hyperreflexia 90% Incoordination 90% Involuntary movements 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Periorbital edema 90% Pointed chin 90% Short stature 90% Thick lower lip vermilion 90% Tremor 90% Wide mouth 90% Anxiety 80% Constipation 75% Coronary artery stenosis 75% Diabetes mellitus 75% Flexion contracture 75% Gastroesophageal reflux 75% Hypodontia 75% Intellectual disability 75% Joint laxity 75% Mitral regurgitation 75% Mitral valve prolapse 75% Muscular hypotonia 75% Osteopenia 75% Osteoporosis 75% Peripheral pulmonary artery stenosis 75% Premature graying of hair 75% Pulmonic stenosis 75% Rectal prolapse 75% Recurrent otitis media 75% Recurrent urinary tract infections 75% Strabismus 75% Supravalvular aortic stenosis 75% Failure to thrive in infancy 70% Abnormal localization of kidney 50% Abnormality of dental enamel 50% Abnormality of the fingernails 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the shoulder 50% Arthralgia 50% Autism 50% Blue irides 50% Bowel diverticulosis 50% Broad nasal tip 50% Cerebral ischemia 50% Clinodactyly of the 5th finger 50% Cutis laxa 50% Depressed nasal bridge 50% Down-sloping shoulders 50% Early onset of sexual maturation 50% Feeding difficulties in infancy 50% Full cheeks 50% Genu valgum 50% Hallux valgus 50% Hoarse voice 50% Hypercalciuria 50% Hyperlordosis 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Hypoplastic toenails 50% Impaired visuospatial constructive cognition 50% Insomnia 50% Kyphosis 50% Large earlobe 50% Limitation of joint mobility 50% Medial flaring of the eyebrow 50% Microcephaly 50% Microdontia 50% Narrow forehead 50% Nausea and vomiting 50% Obesity 50% Obsessive-compulsive behavior 50% Open mouth 50% Otitis media 50% Periorbital fullness 50% Pes planus 50% Phonophobia 50% Proteinuria 50% Reduced number of teeth 50% Renal insufficiency 50% Renovascular hypertension 50% Sacral dimple 50% Sensorineural hearing impairment 50% Short nose 50% Small nail 50% Soft skin 50% Urethral stenosis 50% Visual impairment 50% Bladder diverticulum 33% Gait imbalance 33% Kyphoscoliosis 33% Colonic diverticula 30% Myxomatous mitral valve degeneration 20% Cerebellar hypoplasia 15% Arnold-Chiari type I malformation 10% Hypothyroidism 10% Nephrocalcinosis 10% Abnormal dermatoglyphics 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of lipid metabolism 7.5% Abnormality of refraction 7.5% Abnormality of the ankles 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the diencephalon 7.5% Abnormality of the endocardium 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the urethra 7.5% Adducted thumb 7.5% Amblyopia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the iris 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Biliary tract abnormality 7.5% Cardiomegaly 7.5% Carious teeth 7.5% Cataract 7.5% Celiac disease 7.5% Cerebral cortical atrophy 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Developmental regression 7.5% Flat cornea 7.5% Functional abnormality of male internal genitalia 7.5% Gingival overgrowth 7.5% Glaucoma 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplasia of penis 7.5% Hypotelorism 7.5% Increased bone mineral density 7.5% Increased nuchal translucency 7.5% Inguinal hernia 7.5% Joint hypermobility 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Malar flattening 7.5% Megalocornea 7.5% Micropenis 7.5% Myopathy 7.5% Myopia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Overriding aorta 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Polycystic ovaries 7.5% Portal hypertension 7.5% Posterior embryotoxon 7.5% Precocious puberty 7.5% Prematurely aged appearance 7.5% Radioulnar synostosis 7.5% Recurrent respiratory infections 7.5% Reduced bone mineral density 7.5% Renal duplication 7.5% Renal hypoplasia/aplasia 7.5% Retinal arteriolar tortuosity 7.5% Scoliosis 7.5% Sleep disturbance 7.5% Spina bifida occulta 7.5% Sudden cardiac death 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Type II diabetes mellitus 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Vesicoureteral reflux 7.5% Vocal cord paralysis 7.5% Renal artery stenosis 5% Stroke 1% Sudden death 1% Autosomal dominant inheritance - Bicuspid aortic valve - Chronic constipation - Enuresis - Flat midface - Glucose intolerance - Intrauterine growth retardation - Obsessive-compulsive trait - Pelvic kidney - Poor coordination - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Williams syndrome +What causes Williams syndrome ?,"What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown.",GARD,Williams syndrome +Is Williams syndrome inherited ?,Is Williams syndrome inherited?,GARD,Williams syndrome +What is (are) Chromosome 6p deletion ?,"Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 6p deletion +"What are the symptoms of Short stature syndrome, Brussels type ?","What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Short stature syndrome, Brussels type" +What are the symptoms of Ectodermal dysplasia skin fragility syndrome ?,"What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Abnormality of the nail 90% Alopecia 90% Palmoplantar keratoderma 90% Skin ulcer 90% Blepharitis 50% Dry skin 50% Furrowed tongue 50% Malabsorption 50% Pruritus 50% Woolly hair 7.5% Ectodermal dysplasia - Fragile skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectodermal dysplasia skin fragility syndrome +What are the symptoms of Johnson Munson syndrome ?,"What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Johnson Munson syndrome +What are the symptoms of Hypomelia mullerian duct anomalies ?,"What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypomelia mullerian duct anomalies +"What are the symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial ?","What are the signs and symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile convulsions and paroxysmal choreoathetosis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorea 90% EEG abnormality 90% Seizures 90% Incoordination 50% Migraine 50% Stereotypic behavior 7.5% Anxiety - Autosomal dominant inheritance - Focal seizures, afebril - Generalized seizures - Normal interictal EEG - Paroxysmal choreoathetosis - Paroxysmal dystonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Infantile convulsions and paroxysmal choreoathetosis, familial" +What is (are) Swyer-James syndrome ?,"Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood.",GARD,Swyer-James syndrome +What are the symptoms of Swyer-James syndrome ?,"What are the signs and symptoms of Swyer-James syndrome? Individuals with Swyer-James syndrome may not have any symptoms, but affected individuals can have chronic or recurring lung infections, shortness of breath (dyspnea) when performing an activity, coughing up of blood (hemoptysis), and even severe respiratory impairment.",GARD,Swyer-James syndrome +What causes Swyer-James syndrome ?,"What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome.",GARD,Swyer-James syndrome +What are the treatments for Swyer-James syndrome ?,"How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms.",GARD,Swyer-James syndrome +What are the symptoms of Robinow Sorauf syndrome ?,"What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Robinow Sorauf syndrome +"What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ?","What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Dysarthria - Intellectual disability - Muscle weakness - Muscular hypotonia - Posterior subcapsular cataract - Postural tremor - Short stature - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cataracts, ataxia, short stature, and mental retardation" +What are the symptoms of Hirschsprung disease type 3 ?,"What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hirschsprung disease type 3 +What are the symptoms of Ornithine translocase deficiency syndrome ?,"What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Chorioretinal atrophy 1% Abnormal pyramidal signs - Acute encephalopathy - Acute hepatitis - Autosomal recessive inheritance - Cerebral cortical atrophy - Clonus - Coma - Decreased liver function - Decreased nerve conduction velocity - Episodic vomiting - Failure to thrive - Generalized myoclonic seizures - Hepatomegaly - Hyperammonemia - Hyperornithinemia - Hypopigmentation of the fundus - Lethargy - Morphological abnormality of the pyramidal tract - Muscular hypotonia - Phenotypic variability - Poor coordination - Protein avoidance - Spastic paraparesis - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ornithine translocase deficiency syndrome +What is (are) Oculodentodigital dysplasia ?,"Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment.",GARD,Oculodentodigital dysplasia +What are the symptoms of Oculodentodigital dysplasia ?,"What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentodigital dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Anteverted nares 90% Broad columella 90% Camptodactyly of finger 90% Carious teeth 90% Cleft palate 90% Clinodactyly of the 5th finger 90% Finger syndactyly 90% Microcornea 90% Narrow nasal bridge 90% Premature loss of primary teeth 90% Reduced number of teeth 90% Toe syndactyly 90% Underdeveloped nasal alae 90% Abnormal cortical bone morphology 50% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Abnormality of the urinary system 50% Aplasia/Hypoplasia of the cerebellum 50% Broad alveolar ridges 50% Cataract 50% Cerebral calcification 50% Cognitive impairment 50% Conductive hearing impairment 50% Craniofacial hyperostosis 50% External ear malformation 50% Gait disturbance 50% Glaucoma 50% Hemiplegia/hemiparesis 50% High forehead 50% Hypermetropia 50% Hyperreflexia 50% Hypertelorism 50% Hypertonia 50% Hypotelorism 50% Incoordination 50% Mandibular prognathia 50% Median cleft lip 50% Muscle weakness 50% Myopia 50% Neurological speech impairment 50% Optic atrophy 50% Seizures 50% Short nose 50% Slow-growing hair 50% Visual impairment 50% Abnormal diaphysis morphology 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the iris 7.5% Arrhythmia 7.5% Blepharophimosis 7.5% Brachydactyly syndrome 7.5% Deeply set eye 7.5% Epicanthus 7.5% Fine hair 7.5% Hypoglycemia 7.5% Madelung deformity 7.5% Non-midline cleft lip 7.5% Nystagmus 7.5% Palmoplantar keratoderma 7.5% Preaxial hand polydactyly 7.5% Short hallux 7.5% Strabismus 7.5% Taurodontia 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Abnormality of the pinna 5% Atria septal defect 5% Neurogenic bladder 5% 3-4 toe syndactyly - 4-5 finger syndactyly - Ataxia - Autosomal dominant inheritance - Basal ganglia calcification - Cleft upper lip - Clinodactyly - Cubitus valgus - Dry hair - Dysarthria - Fragile nails - Hip dislocation - Hyperactive deep tendon reflexes - Hypoplasia of dental enamel - Intellectual disability - Joint contracture of the 5th finger - Microcephaly - Microdontia - Microphthalmia - Paraparesis - Premature loss of teeth - Selective tooth agenesis - Short middle phalanx of the 5th finger - Short palpebral fissure - Sparse hair - Spasticity - Tetraparesis - Thin anteverted nares - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculodentodigital dysplasia +What are the symptoms of Immunodeficiency with hyper IgM type 5 ?,"What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immunodeficiency with hyper IgM type 5 +What are the symptoms of Dwarfism Levi type ?,"What are the signs and symptoms of Dwarfism Levi type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism Levi type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal dominant inheritance - Autosomal recessive inheritance - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dwarfism Levi type +What is (are) Congenital dyserythropoietic anemia type 2 ?,"Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.",GARD,Congenital dyserythropoietic anemia type 2 +What are the symptoms of Congenital dyserythropoietic anemia type 2 ?,"What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital dyserythropoietic anemia type 2 +What are the treatments for Congenital dyserythropoietic anemia type 2 ?,"How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2.",GARD,Congenital dyserythropoietic anemia type 2 +What are the symptoms of Sarcosinemia ?,"What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hypersarcosinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sarcosinemia +What is (are) Lipedema ?,"Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role.",GARD,Lipedema +What are the symptoms of Lipedema ?,"What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared entirely. In lipedema, the skin does not appear warty, hard (sclerotic), or discolored. Lipedema is not thought to predispose a person to ulcer development. People with lipedema may tend to bruise easily, possibly due to increased fragility of small blood vessel within the fat tissue.",GARD,Lipedema +What causes Lipedema ?,"What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among those with lipedema, persons of normal weight are also commonly affected. As a result, obesity alone is unlikely to be a major determinant of this syndrome. Many people with lipedema have a family history of similarly enlarged legs. At this time the role of genetics in the causation of lipedema is unknown.",GARD,Lipedema +What are the treatments for Lipedema ?,"How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema).",GARD,Lipedema +What is (are) CHOPS syndrome ?,"CHOPS syndrome is rare condition that affects many different parts of the body. ""CHOPS"" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,CHOPS syndrome +What are the symptoms of CHOPS syndrome ?,"What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CHOPS syndrome +What is (are) 2-methyl-3-hydroxybutyric aciduria ?,"2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.",GARD,2-methyl-3-hydroxybutyric aciduria +What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ?,"What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choreoathetosis - Delayed speech and language development - Developmental regression - Hypertrophic cardiomyopathy - Hypoglycemia - Infantile onset - Intellectual disability - Lactic acidosis - Metabolic acidosis - Muscular hypotonia - Nystagmus - Progressive neurologic deterioration - Restlessness - Retinal degeneration - Seizures - Sensorineural hearing impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,2-methyl-3-hydroxybutyric aciduria +What are the symptoms of Camptodactyly taurinuria ?,"What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Increased urinary taurine - Knee dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camptodactyly taurinuria +What is (are) Klatskin tumor ?,Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. Treatment may involve surgical removal of the tumor. Not all tumors can be removed. Prognosis for cases that cannot be removed (non-resectable tumors) is poor.,GARD,Klatskin tumor +What are the symptoms of Klatskin tumor ?,"What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract neoplasm 90% Hepatomegaly 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Lymphadenopathy 7.5% Thrombophlebitis 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Klatskin tumor +What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ?,"What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features +What are the symptoms of Neurofaciodigitorenal syndrome ?,"What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neurofaciodigitorenal syndrome +What are the symptoms of Hurler syndrome ?,"What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hurler syndrome +What are the symptoms of Ectopia pupillae ?,"What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ectopia pupillae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectopia pupillae +What is (are) Spondylocostal dysostosis 2 ?,"Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.",GARD,Spondylocostal dysostosis 2 +What are the symptoms of Spondylocostal dysostosis 2 ?,"What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylocostal dysostosis 2 +What are the symptoms of Amyotrophic lateral sclerosis type 6 ?,"What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Fasciculations - Gait disturbance - Hyporeflexia - Neuronal loss in central nervous system - Proximal amyotrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyotrophic lateral sclerosis type 6 +What is (are) Dermal eccrine cylindroma ?,"Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.",GARD,Dermal eccrine cylindroma +What is (are) Brachydactyly type B ?,"Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.",GARD,Brachydactyly type B +What are the symptoms of Brachydactyly type B ?,"What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type B +Is Brachydactyly type B inherited ?,"How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.",GARD,Brachydactyly type B +What are the symptoms of Isolated ACTH deficiency ?,"What are the signs and symptoms of Isolated ACTH deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ACTH deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal hypoplasia - Adrenocorticotropic hormone deficiency - Autosomal recessive inheritance - Decreased circulating cortisol level - Fasting hypoglycemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isolated ACTH deficiency +What are the symptoms of Ichthyosis hystrix gravior ?,"What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Ichthyosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis hystrix gravior +What are the symptoms of Hyde Forster Mccarthy Berry syndrome ?,"What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Plagiocephaly 90% Abnormality of movement 50% Brachycephaly - Coarse facial features - Frontal bossing - Intellectual disability, moderate - Prominent forehead - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyde Forster Mccarthy Berry syndrome +What are the symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency ?,"What are the signs and symptoms of Congenital myasthenic syndrome associated with acetylcholine receptor deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome associated with acetylcholine receptor deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal recessive inheritance - Decreased fetal movement - Decreased muscle mass - Decreased size of nerve terminals - Dental malocclusion - Dysarthria - Dysphagia - Easy fatigability - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Facial palsy - Feeding difficulties - Gowers sign - High palate - Infantile onset - Long face - Mandibular prognathia - Motor delay - Muscle cramps - Muscular hypotonia - Nonprogressive - Ophthalmoparesis - Ptosis - Respiratory insufficiency due to muscle weakness - Skeletal muscle atrophy - Strabismus - Type 2 muscle fiber atrophy - Variable expressivity - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital myasthenic syndrome associated with acetylcholine receptor deficiency +What is (are) Lymphatic filariasis ?,"Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.",GARD,Lymphatic filariasis +What are the treatments for Lymphatic filariasis ?,"How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult worm. For individuals who are actively infected with the filarial parasite, DEC is typically the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the United.States. Physicians can typically obtain the medication from the CDC after confirmed positive lab results. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. Another treatment option, ivermectin, kills only the microfilariae. For individuals with clinical symptoms of the condition, treatment depends on the signs and symptoms the affected individual has. Lymphedema and elephantiasis are not typically indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. To prevent the lymphedema from getting worse, individuals should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. Men with hydrocele (abnormal accumulation of fluid in the scrotum) may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. Surgery may also be performed to remove the remains of adult worms and calcifications developing around them. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. In the tropical areas of the world, mosquito control is an important part of prevention of filariasis. Filariasis is usually a self-limited disease unless reinfection occurs. Therefore some cases, especially those brought into temperate regions of the world (i.e., North America), may be left untreated because there is no danger of spreading the disease.",GARD,Lymphatic filariasis +"What are the symptoms of Atrial myxoma, familial ?","What are the signs and symptoms of Atrial myxoma, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bacterial endocarditis - Pulmonic valve myxoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Atrial myxoma, familial" +What is (are) Ring chromosome 20 ?,"Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.",GARD,Ring chromosome 20 +What are the treatments for Ring chromosome 20 ?,"How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried first since they are active against different seizure types. This includes valproate, levetiracetam, lamotrigine, topiramate and zonisamide. Success has been reported in some people with a combination of valproate and lamotrigine, but so far no single therapy has worked for everyone. Vagus nerve stimulation (VNS) has been tried and a reduction in seizures has been reported in some cases but not in others. This involves implanting a medical device under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. The long-term effectiveness of VNS therapy is not yet known. The ketogenic diet, which is high in fat and low in carbohydrate, has been shown to be helpful in other types of epilepsy. However there are no published reports about whether this is successful or not in ring chromosome 20 epilepsy. For more information on treatment of seizures in people with R20 and general information on ring chromosome 20, visit the following link from Unique, The Rare Chromosome Disorder Support Group, a non-profit organization that supports chromosomal disorders. http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf",GARD,Ring chromosome 20 +What is (are) Horizontal gaze palsy with progressive scoliosis ?,Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.,GARD,Horizontal gaze palsy with progressive scoliosis +What are the symptoms of Horizontal gaze palsy with progressive scoliosis ?,"What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphosis 90% Cognitive impairment 50% Nystagmus 50% Short neck 50% Seizures 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - Congenital onset - Horizontal supranuclear gaze palsy - Progressive ophthalmoplegia - Thoracolumbar scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Horizontal gaze palsy with progressive scoliosis +What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ?,"What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anemia due to Adenosine triphosphatase deficiency +What are the symptoms of GTP cyclohydrolase I deficiency ?,"What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Autosomal recessive inheritance - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Infantile onset - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GTP cyclohydrolase I deficiency +What is (are) Bartter syndrome ?,"Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body.",GARD,Bartter syndrome +What are the symptoms of Bartter syndrome ?,"What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bartter syndrome +What causes Bartter syndrome ?,"What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.",GARD,Bartter syndrome +Is Bartter syndrome inherited ?,"How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typically do not have signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Click here to visit the Genetic Home Reference Web site and view an illustration that demonstrates autosomal recessive inheritance.",GARD,Bartter syndrome +How to diagnose Bartter syndrome ?,"How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes. A positive genetic test result would confirm the diagnosis. Is genetic testing available for Bartter syndrome? Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below: Antenatal Bartter syndrome type I Antenatal Bartter syndrome type II Bartter syndrome type III (Classical Bartter syndrome) Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness) Bartter syndrome type IVB Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional.",GARD,Bartter syndrome +What are the treatments for Bartter syndrome ?,"How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. In high-stress situations such as illness or trauma, blood electrolyte levels can change rapidly, which may require immediate intravenous treatment. Genetic counseling may benefit affected individuals and their families. eMedicine has an article containing additional, thorough information about the management and treatment of Bartter syndrome. Click here to view this information.",GARD,Bartter syndrome +What are the symptoms of FG syndrome 4 ?,"What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 6/8 Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Hypertelorism - Intellectual disability - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,FG syndrome 4 +What is (are) Zika virus infection ?,"Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected male partner. Cases of Zika virus transmission via blood transfusions have also been reported. Zika virus outbreaks are currently occurring in many countries. Within the continental United States, Zika virus infections have mostly been in returning travelers. The illness associated with Zika virus infection is usually mild, with symptoms lasting for several days to a week. The most common symptoms of Zika are fever, rash, joint pain, and conjunctivitis (red eyes). However, recent research has suggested a link between Zika virus infection and Guillain-Barre syndrome (GBS). In addition, prenatal Zika virus infection has been shown to cause adverse pregnancy outcomes, including microcephaly and other serious brain anomalies. The precise risk of an adverse pregnancy outcome for a woman infected with Zika virus during pregnancy and the full spectrum of associated birth defects has not yet been determined. No vaccine currently exists to prevent Zika virus infection, but there are still ways to protect oneself. The CDC recommends that pregnant women consider postponing travel to Zika-affected areas. People living in or traveling to areas where Zika virus is found should take steps to prevent mosquito bites. Men who live in or who have traveled to Zika-affected areas can also take steps to prevent sexual transmission of the Zika virus.",GARD,Zika virus infection +What are the treatments for Zika virus infection ?,"How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-inflammatory medications (NSAIDS) should be avoided until dengue has been ruled out. In pregnant women with evidence of Zika virus in the blood or amniotic fluid, serial ultrasounds should be considered to monitor fetal anatomy and growth every 3-4 weeks. Referral to a maternal-fetal medicine specialist or infectious disease specialist with expertise in pregnancy management is recommended.",GARD,Zika virus infection +What is (are) Urachal cyst ?,"Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Treatment typically includes surgery to drain the cyst and/or remove the urachus.",GARD,Urachal cyst +What are the symptoms of Urachal cyst ?,"What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria",GARD,Urachal cyst +What causes Urachal cyst ?,"What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts.",GARD,Urachal cyst +How to diagnose Urachal cyst ?,How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) Computed Tomography (CT scan),GARD,Urachal cyst +What are the treatments for Urachal cyst ?,"How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. Because there is a small risk that a urachal cyst may become malignant (cancerous), additional surgery is often performed to completely remove the urachus.",GARD,Urachal cyst +What are the symptoms of Lethal congenital contracture syndrome 1 ?,"What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Short stature 90% Skeletal muscle atrophy 90% Abnormal cortical bone morphology 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Amniotic constriction ring 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Recurrent fractures 50% Short neck 50% Slender long bone 50% Webbed neck 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the amniotic fluid - Abnormality of the thorax - Autosomal recessive inheritance - Edema - Hypoplasia of the musculature - Neonatal death - Paucity of anterior horn motor neurons - Pulmonary hypoplasia - Widening of cervical spinal canal - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lethal congenital contracture syndrome 1 +"What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ?","What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal dominant inheritance - Babinski sign - Broad-based gait - Calcaneovalgus deformity - Congenital onset - Congenital peripheral neuropathy - Distal amyotrophy - Distal muscle weakness - Hyperlordosis - Hyporeflexia of lower limbs - Nonprogressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Neuropathy, congenital, with arthrogryposis multiplex" +What is (are) Lambert Eaton myasthenic syndrome ?,"Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. Treatment of a underlying disorder or cancer is the first priority of treatment.",GARD,Lambert Eaton myasthenic syndrome +What are the symptoms of Lambert Eaton myasthenic syndrome ?,"What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Difficulty chewing Drooping head Swallowing difficulty, gagging, or choking Vision changes: Blurry vision Double vision Difficulty maintaining a steady gaze Other symptoms may include blood pressure changes, dizziness upon rising, and dry mouth",GARD,Lambert Eaton myasthenic syndrome +What causes Lambert Eaton myasthenic syndrome ?,"What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the bodys attempt to fight the cancer inadvertently causes it to attack nerve fiber endings, especially the voltage-gated calcium channels found there. The trigger for the cases not associated with cancer is unknown.",GARD,Lambert Eaton myasthenic syndrome +What are the treatments for Lambert Eaton myasthenic syndrome ?,"How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or IV immunoglobulins, steroids (e.g., prednisone), azathioprine or cyclosporine, and/or 3,4-diaminopyridine. 3,4-diaminopyridine is available in Europe and may be available in the U.S. on a compassionate use basis. While there has been some evidence that either 3,4-diaminopyridine or IV immunoglobulin can improve muscle strength and nerve to muscle cell communication, the degree of benefit (i.e., how much symptoms are improved) still needs to be determined.",GARD,Lambert Eaton myasthenic syndrome +What are the symptoms of High molecular weight kininogen deficiency ?,"What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced kininogen activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,High molecular weight kininogen deficiency +What are the symptoms of Thakker-Donnai syndrome ?,"What are the signs and symptoms of Thakker-Donnai syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thakker-Donnai syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Downturned corners of mouth 90% Hypertelorism 90% Long palpebral fissure 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow mouth 90% Short neck 90% Upslanted palpebral fissure 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the upper urinary tract 50% Aplasia/Hypoplasia of the corpus callosum 50% Communicating hydrocephalus 50% Congenital diaphragmatic hernia 50% Intrauterine growth retardation 50% Macrotia 50% Tetralogy of Fallot 50% Tracheoesophageal fistula 50% Transposition of the great arteries 50% Ventricular septal defect 50% Abnormal facial shape - Abnormalities of placenta or umbilical cord - Agenesis of corpus callosum - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Hemivertebrae - Hydrocephalus - Hydronephrosis - Long ear - Low posterior hairline - Posteriorly rotated ears - Rectovaginal fistula - Short nose - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thakker-Donnai syndrome +What are the symptoms of Nasopharyngeal carcinoma ?,"What are the signs and symptoms of Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nasopharyngeal carcinoma +What is (are) Nonalcoholic steatohepatitis ?,"Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a liver problem. Nevertheless, NASH can be severe and can lead to cirrhosis, in which the liver is permanently damaged and scarred and no longer able to work properly. NASH most often occurs in people who are middle aged and overweight or obese. Affected individuals may also have elevated levels of blood lipids (such as cholesterol and triglycerides) and many have diabetes or prediabetes. Treatment is centered around working towards a healthy lifestyle, including weight reduction, dietary modification, increased activity and avoidance of alcohol and unnecessary medications. The underlying cause of NASH remains unclear.",GARD,Nonalcoholic steatohepatitis +What causes Nonalcoholic steatohepatitis ?,"What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: insulin resistance release of toxic inflammatory proteins by fat cells (cytokines) oxidative stress (deterioration of cells) inside liver cells",GARD,Nonalcoholic steatohepatitis +How to diagnose Nonalcoholic steatohepatitis ?,"How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x-rays or imaging studies of the liver show fat, NASH is suspected. The only way to definitely diagnosis NASH and separate it from simple fatty liver is through a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Blood tests and scans cannot reliably provide this information at this time.",GARD,Nonalcoholic steatohepatitis +What are the treatments for Nonalcoholic steatohepatitis ?,"How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. Individuals with other medical conditions (diabetes, high blood pressure, or elevated cholesterol) should be treated with medication as advised by their physician. Some new treatment options are now being studied in clinical trials. These include the use of antioxidants (such as vitamin E, selenium, and betaine) and some newer antidiabetic medications (metformin, rosiglitazone, and pioglitazone) which treat insulin resistance.",GARD,Nonalcoholic steatohepatitis +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Segmental peripheral demyelination/remyelination - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D +What is (are) Hereditary angioedema ?,"Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. This condition is inherited in an autosomal dominant pattern.",GARD,Hereditary angioedema +What are the symptoms of Hereditary angioedema ?,"What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angioedema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema 90% Urticaria 90% Abdominal pain 7.5% Ascites 7.5% Immunologic hypersensitivity 7.5% Intestinal obstruction 7.5% Abnormality of the larynx - Angioedema - Autoimmunity - Autosomal dominant inheritance - Diarrhea - Erythema - Intestinal edema - Laryngeal edema - Peripheral axonal neuropathy - Pharyngeal edema - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary angioedema +What are the treatments for Hereditary angioedema ?,"How might hereditary angioedema be treated? Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability. Until recently, no effective agent for acute attacks existed in the United States. Now, however, several agents have been approved, and others are in the midst of the U.S. Food and Drug Administration (FDA) approval process. In October 2008, the US FDA approved the use of C1-INH (Cinryze) for prophylaxis to prevent attacks. In October 2009, the FDA approved C1-INH (Berinert) for the treatment of acute abdominal and facial angioedema attacks in adolescents and adults with HAE.In December 2009, ecallantide (Kalbitor), a kallikrein inhibitor, was approved for the treatment of acute attacks. In August 2011, the FDA approved Firazyr (icatibant) Injection for the treatment of acute attacks in people ages 18 years and older. Firazyr can be self-administered through an injection in the abdominal area so patients can treat themselves when they realize they are having an HAE attack. An article from the eMedicine Journal provides more detailed information on these medications and other methods of treating HAE at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/135604-treatment The US Hereditary Angioedema Association also provides additional information about treatment of HAE. http://www.haea.org/treating-hae/treatments/ Orphanet, a database dedicated to information on rare diseases and orphan drugs, provides guidelines regarding emergency management of hereditary angioedema at the following link. http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN&stapage=FICHE_URGENCE_A1",GARD,Hereditary angioedema +What are the symptoms of Microphthalmia mental deficiency ?,"What are the signs and symptoms of Microphthalmia mental deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia mental deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Joint hypermobility 5% Overlapping toe 5% Agenesis of corpus callosum - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Congenital cataract - Cryptorchidism - Deeply set eye - External genital hypoplasia - Facial hypertrichosis - Failure to thrive - Hyperreflexia - Hypoplasia of the corpus callosum - Intellectual disability - Kyphoscoliosis - Macrotia - Microcephaly - Microcornea - Microphthalmia - Muscular hypotonia - Optic atrophy - Osteoporosis - Ptosis - Short stature - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia mental deficiency +What are the symptoms of Omodysplasia 2 ?,"What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Cryptorchidism 90% Elbow dislocation 90% Limb undergrowth 90% Depressed nasal bridge 50% Frontal bossing 50% Hypertelorism 50% Hypoplasia of penis 50% Long philtrum 50% Malar flattening 50% Scrotal hypoplasia 50% Short nose 50% Abnormality of female internal genitalia 7.5% Brachydactyly syndrome 7.5% Patellar dislocation 7.5% Autosomal dominant inheritance - Bifid nasal tip - Dislocated radial head - Hypoplastic distal humeri - Hypospadias - Limited elbow flexion/extension - Micropenis - Rhizomelic arm shortening - Short 1st metacarpal - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Omodysplasia 2 +"What are the symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic type . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blue sclerae 90% Bruising susceptibility 90% Hyperextensible skin 90% Proptosis 90% Short stature 90% Skeletal dysplasia 90% Thin skin 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Absent palmar crease 50% Platyspondyly 50% Reduced bone mineral density 50% Skeletal muscle atrophy 50% Tapered finger 50% Flexion contracture 7.5% Autosomal recessive inheritance - Bifid uvula - Broad femoral neck - Camptodactyly of finger - Cigarette-paper scars - Delayed eruption of teeth - Dental malocclusion - Flat capital femoral epiphysis - High palate - Hypodontia - Irregular vertebral endplates - Joint laxity - Metaphyseal widening - Moderately short stature - Osteopenia - Pes planus - Short femoral neck - Short metacarpal - Short phalanx of finger - Thenar muscle atrophy - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, spondylocheirodysplastic type" +What is (are) Episodic ataxia ?,"Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. It is characterized by episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood, with the frequency of attacks ranging from several per day to one or two per year. There are at least seven types of episodic ataxia, designated type 1 through type 7, which are distinguished by their signs and symptoms, age of onset, length of attacks, and, when known, genetic cause. Only types 1 and 2 have been identified in more than one family; episodic ataxia type 2 is the most common form of the condition.",GARD,Episodic ataxia +What is (are) Partington syndrome ?,"Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Partington syndrome +What are the symptoms of Partington syndrome ?,"What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Partington syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed speech and language development - Dysarthria - EEG abnormality - Flexion contracture - Focal dystonia - Intellectual disability - Limb dystonia - Lower limb spasticity - Seizures - Triangular face - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Partington syndrome +What causes Partington syndrome ?,"What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neurons). Specific changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration. This can lead to the many signs and symptoms associated with Partington syndrome.",GARD,Partington syndrome +Is Partington syndrome inherited ?,"Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.",GARD,Partington syndrome +What are the treatments for Partington syndrome ?,"How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. Speech therapy may be recommended for children with dysarthria. Medications may be prescribed to help prevent and/or control recurrent seizures. Children with mild to moderate intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.",GARD,Partington syndrome +What are the symptoms of Insulin-like growth factor I deficiency ?,"What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Clinodactyly - Congenital onset - Decreased body weight - Delayed skeletal maturation - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Microcephaly - Motor delay - Osteopenia - Ptosis - Radial deviation of finger - Sensorineural hearing impairment - Short attention span - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Insulin-like growth factor I deficiency +What is (are) Leukoencephalopathy with vanishing white matter ?,"Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.",GARD,Leukoencephalopathy with vanishing white matter +What are the symptoms of Leukoencephalopathy with vanishing white matter ?,"What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Juvenile onset 33% Macrocephaly 33% Blindness 7.5% Autosomal recessive inheritance - Cerebral hypomyelination - Cessation of head growth - CNS demyelination - Decreased serum progesterone - Delusions - Developmental regression - Dysarthria - Emotional lability - Lethargy - Leukoencephalopathy - Memory impairment - Muscular hypotonia - Optic atrophy - Personality changes - Premature ovarian failure - Primary gonadal insufficiency - Secondary amenorrhea - Seizures - Spasticity - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leukoencephalopathy with vanishing white matter +What causes Leukoencephalopathy with vanishing white matter ?,"What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition.",GARD,Leukoencephalopathy with vanishing white matter +Is Leukoencephalopathy with vanishing white matter inherited ?,"How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Leukoencephalopathy with vanishing white matter +What are the treatments for Leukoencephalopathy with vanishing white matter ?,"How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. Infections and fevers should be prevented when possible through the use of vaccinations; low-dose maintenance antibiotics during winter months; antibiotics for minor infections; and antipyretics (fever-reducing medications) for fever. For children, wearing a helmet outside can help minimize the effects of head trauma. Contact sports, head trauma, and stressful situations (including high body temperature) should be avoided. More detailed information about the management of leukoencephalopathy with vanishing white matter is available on the GeneReviews Web site.",GARD,Leukoencephalopathy with vanishing white matter +What are the symptoms of GOMBO syndrome ?,"What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Brachydactyly syndrome - Clinodactyly - Delayed puberty - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Microphthalmia - Radial deviation of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GOMBO syndrome +What are the symptoms of Fraser like syndrome ?,"What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fraser like syndrome +What are the symptoms of Axial osteomalacia ?,"What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Elevated serum creatine phosphokinase - Increased bone mineral density - Myopathy - Osteomalacia - Polycystic liver disease - Proximal muscle weakness - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Axial osteomalacia +What is (are) Acromegaly ?,"Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain. Acromegaly is usually treatable but when left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.",GARD,Acromegaly +What are the symptoms of Acromegaly ?,"What are the signs and symptoms of Acromegaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Abnormality of the tongue 90% Anterior hypopituitarism 90% Arthralgia 90% Broad foot 90% Broad forehead 90% Coarse facial features 90% Deep palmar crease 90% Deep plantar creases 90% Full cheeks 90% Hyperhidrosis 90% Joint swelling 90% Macrodactyly of finger 90% Mandibular prognathia 90% Osteoarthritis 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of the fingernails 50% Abnormality of the menstrual cycle 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Abnormality of the voice 50% Apnea 50% Behavioral abnormality 50% Cerebral palsy 50% Diabetes mellitus 50% Frontal bossing 50% Hypertension 50% Kyphosis 50% Migraine 50% Neoplasm of the endocrine system 50% Palpebral edema 50% Paresthesia 50% Spinal canal stenosis 50% Synophrys 50% Abnormal renal physiology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the mitral valve 7.5% Acanthosis nigricans 7.5% Acne 7.5% Erectile abnormalities 7.5% Galactorrhea 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Reduced consciousness/confusion 7.5% Autosomal dominant inheritance - Cardiomyopathy - Growth hormone excess - Increased serum insulin-like growth factor 1 {comment=""HPO:probinson""} - Left ventricular hypertrophy - Menstrual irregularities - Pituitary adenoma - Pituitary growth hormone cell adenoma - Pituitary prolactin cell adenoma - Prolactin excess - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acromegaly +What is (are) Donnai-Barrow syndrome ?,"Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.",GARD,Donnai-Barrow syndrome +What are the symptoms of Donnai-Barrow syndrome ?,"What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Low-molecular-weight proteinuria 100% Non-acidotic proximal tubulopathy 100% Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the corpus callosum 90% Broad nasal tip 90% Cognitive impairment 90% Depressed nasal bridge 90% High anterior hairline 90% Hypertelorism 90% Infra-orbital crease 90% Low-set, posteriorly rotated ears 90% Myopia 90% Proptosis 90% Proteinuria 90% Sensorineural hearing impairment 90% Short nose 90% Low-set ears 75% Broad forehead 50% Congenital diaphragmatic hernia 50% Diaphragmatic eventration 50% Macrocephaly 50% Omphalocele 50% Retinal detachment 50% Umbilical hernia 50% Visual impairment 50% Progressive visual loss 33% Retinal dystrophy 33% Abnormality of female internal genitalia 7.5% Chorioretinal coloboma 7.5% Hypoplasia of the iris 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Seizures 7.5% Ventricular septal defect 7.5% Bicornuate uterus 5% Cataract 1% Aplasia/Hypoplasia of the corpus callosum 11/11 Hypertelorism 12/12 Sensorineural hearing impairment 5/5 Severe Myopia 5/5 Short nose 9/11 Wide anterior fontanel 9/12 Congenital diaphragmatic hernia 9/13 Posteriorly rotated ears 7/11 Iris coloboma 3/6 Omphalocele 6/12 Intestinal malrotation 3/13 Autosomal recessive inheritance - Hypoplasia of midface - Malar flattening - Partial agenesis of the corpus callosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Donnai-Barrow syndrome +What is (are) Mantle cell lymphoma ?,"Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood cells that make up the lymphatic system. There are two main types: B-lymphocytes (B-cells) and T-lymphocytes (T-cells). Mantel cell lymphoma is a B-cell lymphoma that develops from cancerous B-cells within a region of the lymph node known as the mantle zone. Although mantle cell lymphomas are slow-growing cancers, at the time of diagnosis, they are usually widespread in the lymph nodes and require intensive treatment because they can become lethal within a short period of time.",GARD,Mantle cell lymphoma +What are the symptoms of Mantle cell lymphoma ?,"What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Mantle cell lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hematological neoplasm 90% Lymphadenopathy 90% Anorexia 50% Splenomegaly 50% Weight loss 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mantle cell lymphoma +What causes Mantle cell lymphoma ?,"What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non-Hodgkin lymphomas (NHL) have been linked to viral infections including Ebstein-Barr virus, HIV, and human herpesvirus 6. It has also been found that immunodeficiencies and environmental factors like hair dyes and pesticides may lead to NHLs.",GARD,Mantle cell lymphoma +How to diagnose Mantle cell lymphoma ?,"How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be found by genetic molecular testing methods such as PCR and FISH.",GARD,Mantle cell lymphoma +What are the treatments for Mantle cell lymphoma ?,"How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.",GARD,Mantle cell lymphoma +What is (are) Fibrous dysplasia ?,"Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of fractures (broken bones). This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome. While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be indicated for fractures or to correct misshapen bones.",GARD,Fibrous dysplasia +What are the symptoms of Fibrous dysplasia ?,"What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bone(s) affected. For example, if the legs are of different lengths, they might limp when they walk; if the bones in the sinuses are affected, chronic sinus congestion may be a present. In rare cases, fibrous dysplasia is associated with abnormalities in the hormone-producing glands of the endocrine system. This may lead to precocious puberty, hyperthyroidism (excess thyroid hormone production), excess growth hormone (gigantism or acromegaly), and/or excess cortisol production (Cushing syndrome). If the face or skull bones are affected, hearing or vision loss may occur.",GARD,Fibrous dysplasia +What causes Fibrous dysplasia ?,"What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of their body. It is not well understood why the mutation occurs, but it is not inherited from a parent, nor can it be passed on to future offspring.",GARD,Fibrous dysplasia +What are the treatments for Fibrous dysplasia ?,"How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. Surgery may also be used to relieve pain. Medications known as bisphosphonates are also used to relieve bone pain. Other healthy strategies such as physical activity and adequate intake of calcium, phosphorus, and vitamin D are also encouraged.[ Radiation therapy is not recommended for patients with fibrous dysplasia because it is associated with an increased risk of cancerous transformation. Careful, long-term follow-up to monitor fibrous dysplasia is advised.",GARD,Fibrous dysplasia +What is (are) Early Infantile Epileptic Encephalopathy ?,"Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.",GARD,Early Infantile Epileptic Encephalopathy +What are the symptoms of Charcot-Marie-Tooth disease type 2O ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Difficulty running - Distal muscle weakness - Distal sensory impairment - Frequent falls - Hyporeflexia - Limb muscle weakness - Motor delay - Pes cavus - Phenotypic variability - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2O +What are the symptoms of Mac Dermot Winter syndrome ?,"What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nipple 90% Blepharophimosis 90% Cognitive impairment 90% Cryptorchidism 90% Dolichocephaly 90% Highly arched eyebrow 90% Hypertonia 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Overfolded helix 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Seizures 90% Short nose 90% Abnormality of the upper urinary tract 50% Abnormality of the voice 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Short neck 50% Single transverse palmar crease 50% Thickened nuchal skin fold 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Autosomal recessive inheritance - Death in infancy - Frontal upsweep of hair - Hydronephrosis - Hypoplastic male external genitalia - Low anterior hairline - Posteriorly rotated ears - Prominent glabella - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mac Dermot Winter syndrome +What is (are) Familial osteochondritis dissecans ?,"Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy.",GARD,Familial osteochondritis dissecans +What are the symptoms of Familial osteochondritis dissecans ?,"What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial osteochondritis dissecans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Exostoses - Growth abnormality - Osteoarthritis - Osteochondrosis dissecans - Short stature - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial osteochondritis dissecans +What causes Familial osteochondritis dissecans ?,"What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans.",GARD,Familial osteochondritis dissecans +How to diagnose Familial osteochondritis dissecans ?,"How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here.",GARD,Familial osteochondritis dissecans +What are the treatments for Familial osteochondritis dissecans ?,"How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint.",GARD,Familial osteochondritis dissecans +What is (are) Cohen syndrome ?,"Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.",GARD,Cohen syndrome +What are the symptoms of Cohen syndrome ?,"What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or shortened philtrum, and hypotonic appearance. Other findings that tend to be more common among almost all people with Cohen syndrome are listed below. Retinal dystrophy (a condition in which the muscles of the retina do not work properly) Progressive high myopia (nearsightedness) Acquired microcephaly (smaller than normal-sized head) Non-progressive mental retardation, global developmental delay Hypotonia Joint hyperextensibility (unusually large range of joint movement) The Human Phenotype Ontology provides the following list of signs and symptoms for Cohen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Abnormality of the eyelashes 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the tongue 90% Arachnodactyly 90% Chorioretinal abnormality 90% Cognitive impairment 90% Gingival overgrowth 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Low anterior hairline 90% Microcephaly 90% Muscular hypotonia 90% Myopia 90% Neurological speech impairment 90% Open mouth 90% Prominent nasal bridge 90% Reduced number of teeth 90% Sandal gap 90% Short philtrum 90% Tapered finger 90% Thick eyebrow 90% Abnormality of the voice 50% Clinodactyly of the 5th finger 50% Coarse hair 50% Cubitus valgus 50% Finger syndactyly 50% Genu valgum 50% Intrauterine growth retardation 50% Joint hypermobility 50% Macrodontia 50% Obesity 50% Prenatal movement abnormality 50% Short stature 50% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Cryptorchidism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Nystagmus 7.5% Optic atrophy 7.5% Pectus excavatum 7.5% Preauricular skin tag 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Childhood-onset truncal obesity - Chorioretinal dystrophy - Convex nasal ridge - Delayed puberty - Facial hypotonia - Feeding difficulties in infancy - Growth hormone deficiency - High, narrow palate - Hypoplasia of the maxilla - Intellectual disability - Laryngomalacia - Leukopenia - Lumbar hyperlordosis - Macrodontia of permanent maxillary central incisor - Mitral valve prolapse - Motor delay - Neonatal hypotonia - Neutropenia - Pes planus - Reduced visual acuity - Short metacarpal - Short metatarsal - Single transverse palmar crease - Small for gestational age - Thick corpus callosum - Thoracic scoliosis - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cohen syndrome +How to diagnose Cohen syndrome ?,"How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations.",GARD,Cohen syndrome +What are the treatments for Cohen syndrome ?,"How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections) is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.",GARD,Cohen syndrome +What is (are) Aplasia cutis congenita ?,"Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised skin perfusion.",GARD,Aplasia cutis congenita +What are the symptoms of Aplasia cutis congenita ?,"What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Skull defect 90% Spinal dysraphism 90% Skin ulcer 50% Abnormality of bone mineral density 7.5% Abnormality of coagulation 7.5% Facial palsy 7.5% Aplasia cutis congenita over the scalp vertex - Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aplasia cutis congenita +What causes Aplasia cutis congenita ?,"What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma. Some cases may represent an incomplete or unusual form of a neural tube defect. Familial cases of aplasia cutis congenita have been reported. Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.",GARD,Aplasia cutis congenita +What are the treatments for Aplasia cutis congenita ?,"How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect. Local therapy includes gentle cleansing and the application of bland ointment or silver sulfadiazine ointment to keep the area moist. Antibiotics may be utilized if overt signs of infection are noted. In many cases, other treatment is not necessary because the erosions and the ulcerations almost always heal on their own. Recently, a variety of specialized dressing materials have been developed and used. Surgical repair is not usually indicated if the defect is small. Recovery is generally uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life. Surgical repair of large or multiple scalp defects may require excision with primary closure, if feasible, or the use of tissue expanders and rotation of a flap to fill the defect. On occasion, skin and bone grafts may also be required.",GARD,Aplasia cutis congenita +What are the symptoms of Cleft palate stapes fixation oligodontia ?,"What are the signs and symptoms of Cleft palate stapes fixation oligodontia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate stapes fixation oligodontia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Cleft palate 90% Conductive hearing impairment 90% Tarsal synostosis 90% Telecanthus 90% Abnormality of the wrist 50% Autosomal recessive inheritance - Bilateral conductive hearing impairment - Cleft soft palate - No permanent dentition - Oligodontia of primary teeth - Sandal gap - Short hallux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleft palate stapes fixation oligodontia +What is (are) Hyper-IgD syndrome ?,"Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK). It is inherited in an autosomal recessive manner.",GARD,Hyper-IgD syndrome +What are the symptoms of Hyper-IgD syndrome ?,"What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. The first attack usually takes place during infancy. Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist. The Human Phenotype Ontology provides the following list of signs and symptoms for Hyper-IgD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Gastrointestinal hemorrhage 90% Hepatomegaly 90% Lymphadenopathy 90% Myalgia 90% Abnormality of the oral cavity 50% Arthritis 50% Diarrhea 50% Migraine 50% Urticaria 50% Vasculitis 50% Abnormal immunoglobulin level 7.5% Acrocyanosis 7.5% Cognitive impairment 7.5% Incoordination 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Peritonitis 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Rod-cone dystrophy 5% Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Headache - Hypermelanotic macule - Increased IgA level - Leukocytosis - Nyctalopia - Optic disc pallor - Skin rash - Splenomegaly - Vertigo - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyper-IgD syndrome +What causes Hyper-IgD syndrome ?,What causes hyper IgD syndrome? Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene. The gene is located at chromosome 12q24.,GARD,Hyper-IgD syndrome +Is Hyper-IgD syndrome inherited ?,"Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About one half of patients have a positive family history.",GARD,Hyper-IgD syndrome +What are the treatments for Hyper-IgD syndrome ?,"How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks. Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).",GARD,Hyper-IgD syndrome +What is (are) Triploidy ?,"Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.",GARD,Triploidy +What are the symptoms of Triploidy ?,"What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pancreas 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Macrocephaly 7.5% Meningocele 7.5% Narrow mouth 7.5% Short neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Triploidy +What is (are) Developmental dysphasia familial ?,"Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.",GARD,Developmental dysphasia familial +What is (are) Chilaiditi syndrome ?,"Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When no symptoms are present, the clinical finding is called Chilaiditi's sign.. The underlying cause of Chilaiditi syndrome is unknown. Treatment is symptomatic and supportive.",GARD,Chilaiditi syndrome +What are the symptoms of Chilaiditi syndrome ?,"What are the signs and symptoms of Chilaiditi syndrome? The symptoms of Chilaiditi syndrome vary. Chronic recurrent abdominal pain is a common finding. Other symptoms might include nausea, vomiting, constipation, indigestion, difficulty swallowing, and abdominal tenderness, especially in the upper, central area. In some cases, breathing problems may develop.",GARD,Chilaiditi syndrome +What causes Chilaiditi syndrome ?,"What causes Chilaiditi syndrome? The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. Other risk factors may include reduced liver volume, paralysis of the motor nerve to the diaphragm (phrenic nerve palsy), and obesity. In some cases, the condition is present from birth (congenital).",GARD,Chilaiditi syndrome +What are the treatments for Chilaiditi syndrome ?,"How might Chilaiditi syndrome be treated? Treatment of Chilaiditi syndrome is directed at the individual symptoms present. In some cases, treatment is not needed. Reducing (or removing) the pressure within the abdomen may help alleviate symptoms. This may be achieved through conservative measure that address constipation, pain and distention. Surgical intervention may include removal of a portion of the color or the anchoring of the liver to the abdominal wall.",GARD,Chilaiditi syndrome +What are the symptoms of Microphthalmia syndromic 5 ?,"What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 5% Cryptorchidism 5% Ectopic posterior pituitary 5% Micropenis 5% Short stature 5% Autosomal dominant inheritance - Cataract - Coloboma - Joint laxity - Microcornea - Microphthalmia - Muscular hypotonia - Retinal dystrophy - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia syndromic 5 +What is (are) Intrahepatic cholestasis of pregnancy ?,"Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice). ICP is additionally associated with risks to the developing baby such as premature delivery and stillbirth. The cause of ICP is largely unknown, although approximately 15% of cases are caused by mutations in either the ABCB11 or ABCB4 genes. Mutations within the ABCB11 and ABCB4 genes are inherited in an autosomal dominant manner. Symptoms of ICP are typically limited to pregnancy. Bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies.",GARD,Intrahepatic cholestasis of pregnancy +What are the symptoms of Intrahepatic cholestasis of pregnancy ?,"What are the signs and symptoms of Intrahepatic cholestasis of pregnancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrahepatic cholestasis of pregnancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal liver function tests during pregnancy - Autosomal dominant inheritance - Increased serum bile acid concentration during pregnancy - Intrahepatic cholestasis - Premature birth - Pruritus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intrahepatic cholestasis of pregnancy +What causes Intrahepatic cholestasis of pregnancy ?,"What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A personal or family history of cholestasis of pregnancy A history of liver disease A multiple gestation pregnancy (twins, triplets, etc) Approximately 15% of women with ICP have a mutation in either the ABCB11 orABCB4 gene. Mutations within these genes increase the likelihood that a woman will develop ICP. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations within the gene. A person with a mutation in either theABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Intrahepatic cholestasis of pregnancy +How to diagnose Intrahepatic cholestasis of pregnancy ?,"How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of elevated serum bile acids. Is genetic testing available for intrahepatic cholestasis of pregnancy? In the presence of a family history of intrahepatic cholestasis of pregnancy (ICP) and/or known mutations in either the ABCB11 or ABCB4 genes, genetic testing is available. The Genetic Testing Registry (GTR), a resource from the National Center for Biotechnology, offers a listing of laboratories that perform genetic testing for intrahepatic cholestasis of pregnancy. For more information, click on the link.",GARD,Intrahepatic cholestasis of pregnancy +What are the treatments for Intrahepatic cholestasis of pregnancy ?,"How might intrahepatic cholestasis of pregnancy be treated? Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieves itchiness and may reduce complications for the baby. To prevent pregnancy complications, close monitoring of the baby might be recommended. Even if prenatal tests appear normal, induction of early labor might be recommended.",GARD,Intrahepatic cholestasis of pregnancy +What is (are) Tyrosinemia type 3 ?,"Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.",GARD,Tyrosinemia type 3 +What are the symptoms of Tyrosinemia type 3 ?,"What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tyrosinemia type 3 +"What are the symptoms of Maturity-onset diabetes of the young, type 5 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Multicystic kidney dysplasia 90% Nephropathy 90% Diabetes mellitus 50% Biliary tract abnormality 33% Elevated hepatic transaminases 33% Elevated serum creatinine 33% Glucose intolerance 33% Glycosuria 33% Gout 33% Proteinuria 33% Stage 5 chronic kidney disease 33% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of male internal genitalia 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Arthritis 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hepatic steatosis 7.5% Hyperuricemia 7.5% Hypothyroidism 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Exocrine pancreatic insufficiency 6/7 Pancreatic hypoplasia 5/6 Renal cyst 19/23 Maturity-onset diabetes of the young 10/13 Abnormality of alkaline phosphatase activity 4/7 Multiple glomerular cysts 4/23 Bicornuate uterus 1/23 Hypoplasia of the uterus 1/23 Renal hypoplasia 1/23 Unilateral renal agenesis 1/23 Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased numbers of nephrons - Epididymal cyst - Hypospadias - Nephrolithiasis - Onset - Phenotypic variability - Ureteropelvic junction obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 5" +What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ?,"What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertonia 90% Incoordination 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of movement 50% Abnormality of the salivary glands 50% Hydrocephalus 50% Autosomal recessive inheritance - Congenital lactic acidosis - Death in childhood - Increased serum lactate - Metabolic acidosis - Muscular hypotonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alpha-ketoglutarate dehydrogenase deficiency +"What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ?","What are the signs and symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Aggressive behavior - Arnold-Chiari type I malformation - Blepharophimosis - Broad alveolar ridges - Broad foot - Broad nasal tip - Gingival overgrowth - Highly arched eyebrow - Hyperkeratosis - Hypertrichosis - Intellectual disability - Low anterior hairline - Low posterior hairline - Low-set ears - Posteriorly rotated ears - Prominent fingertip pads - Short chin - Short palpebral fissure - Short philtrum - Sporadic - Thick corpus callosum - Thick eyebrow - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" +What are the symptoms of Meckel syndrome type 3 ?,"What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 5% Dandy-Walker malformation 5% Hydrocephalus 5% Autosomal recessive inheritance - Bile duct proliferation - Encephalocele - Hepatic fibrosis - Multicystic kidney dysplasia - Polydactyly - Postaxial hand polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Meckel syndrome type 3 +What are the symptoms of Bardet-Biedl syndrome 6 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 6 +What is (are) Split hand split foot nystagmus ?,"Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good.",GARD,Split hand split foot nystagmus +What are the symptoms of Split hand split foot nystagmus ?,"What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Split hand split foot nystagmus +Is Split hand split foot nystagmus inherited ?,"How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism.",GARD,Split hand split foot nystagmus +What are the symptoms of Apparent mineralocorticoid excess ?,"What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Apparent mineralocorticoid excess +What are the symptoms of Kosztolanyi syndrome ?,"What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kosztolanyi syndrome +What is (are) Epithelial basement membrane corneal dystrophy ?,"Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified.",GARD,Epithelial basement membrane corneal dystrophy +What are the symptoms of Epithelial basement membrane corneal dystrophy ?,"What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epithelial basement membrane corneal dystrophy +What are the treatments for Epithelial basement membrane corneal dystrophy ?,"How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities. An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1193945-treatment#showall",GARD,Epithelial basement membrane corneal dystrophy +What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,"17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.",GARD,17-beta hydroxysteroid dehydrogenase 3 deficiency +What are the symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,"What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 90% Cryptorchidism 90% Decreased fertility 90% Gynecomastia 90% Male pseudohermaphroditism 90% Hypothyroidism 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,17-beta hydroxysteroid dehydrogenase 3 deficiency +What is (are) Brody myopathy ?,"Brody disease is a type of myopahty or ""disease of muscle."" Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified.",GARD,Brody myopathy +What are the symptoms of Brody myopathy ?,"What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word pseudo-myotonia is used. In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria. People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Brody myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brody myopathy +What causes Brody myopathy ?,"What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease.",GARD,Brody myopathy +How to diagnose Brody myopathy ?,"How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help confirm the diagnosis.",GARD,Brody myopathy +What are the treatments for Brody myopathy ?,"How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success.",GARD,Brody myopathy +What is (are) Familial progressive cardiac conduction defect ?,"Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. Several other genes may be the cause when PCCD occurs with congenital heart disease. Familial PCCD is usually inherited in an autosomal dominant manner. However, not all people that have the mutated gene will have the condition; in those that do, symptoms and severity can vary (known as reduced penetrance and variable expressivity). Autosomal recessive inheritance and sporadic cases have been reported, but are rare. Treatment includes implantation of a pacemaker.",GARD,Familial progressive cardiac conduction defect +What are the symptoms of Familial progressive cardiac conduction defect ?,"What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial progressive cardiac conduction defect +What is (are) Orofaciodigital syndrome 2 ?,"Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient.",GARD,Orofaciodigital syndrome 2 +What are the symptoms of Orofaciodigital syndrome 2 ?,"What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid tongue 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Finger syndactyly 90% Postaxial hand polydactyly 90% Short stature 90% Telecanthus 90% Wide nasal bridge 90% Clinodactyly of the 5th finger 75% Preaxial foot polydactyly 75% Abnormality of the metaphyses 50% Accessory oral frenulum 50% Bifid nasal tip 50% Broad nasal tip 50% Depressed nasal bridge 50% Flared metaphysis 50% Hypoplasia of the maxilla 50% Lobulated tongue 50% Malar flattening 50% Median cleft lip 50% Metaphyseal irregularity 50% Midline defect of the nose 50% Reduced number of teeth 50% Tongue nodules 50% Postaxial foot polydactyly 33% Preaxial hand polydactyly 33% Abnormality of the cranial nerves 7.5% Abnormality of the genital system 7.5% Abnormality of the metacarpal bones 7.5% Agenesis of central incisor 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% High palate 7.5% Hydrocephalus 7.5% Laryngomalacia 7.5% Pectus excavatum 7.5% Porencephaly 7.5% Scoliosis 7.5% Seizures 7.5% Syndactyly 7.5% Tracheal stenosis 7.5% Wormian bones 7.5% Autosomal recessive inheritance - Bilateral postaxial polydactyly - Hypertelorism - Partial duplication of the phalanges of the hallux - Short palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 2 +What causes Orofaciodigital syndrome 2 ?,What causes orofaciodigital syndrome type 2? Orofaciodigital syndrome type 2 is caused by mutations (changes) of an as yet unidentified gene.,GARD,Orofaciodigital syndrome 2 +Is Orofaciodigital syndrome 2 inherited ?,"How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition.",GARD,Orofaciodigital syndrome 2 +What are the treatments for Orofaciodigital syndrome 2 ?,"What treatment is available for orofaciodigital syndrome type 2? Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.",GARD,Orofaciodigital syndrome 2 +What is (are) Miller syndrome ?,"Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.",GARD,Miller syndrome +What are the symptoms of Miller syndrome ?,"What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Cleft eyelid 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Supernumerary nipple 90% Camptodactyly of finger 50% Conductive hearing impairment 50% Finger syndactyly 50% Non-midline cleft lip 50% Strabismus 7.5% Abnormality of the foot - Abnormality of the kidney - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Congenital hip dislocation - Conical tooth - Cryptorchidism - Cupped ear - Ectropion - Hypoplasia of the radius - Hypoplasia of the ulna - Low-set ears - Malar flattening - Micropenis - Midgut malrotation - Pectus excavatum - Postnatal growth retardation - Pyloric stenosis - Radioulnar synostosis - Short thumb - Supernumerary vertebrae - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Miller syndrome +"What are the symptoms of Dwarfism, proportionate with hip dislocation ?","What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hip dislocation - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dwarfism, proportionate with hip dislocation" +What is (are) Gray platelet syndrome ?,"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner.",GARD,Gray platelet syndrome +What are the symptoms of Gray platelet syndrome ?,"What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Bruising susceptibility 90% Thrombocytopenia 90% Abnormality of the menstrual cycle 50% Epistaxis 50% Myelodysplasia 50% Splenomegaly 50% Autosomal dominant inheritance - Autosomal recessive inheritance - Impaired collagen-induced platelet aggregation - Impaired thrombin-induced platelet aggregation - Menorrhagia - Myelofibrosis - Progressive - Prolonged bleeding time - Reduced quantity of Von Willebrand factor - Reduced von Willebrand factor activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gray platelet syndrome +What are the treatments for Gray platelet syndrome ?,"How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding.",GARD,Gray platelet syndrome +What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ?,"What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 90% Abnormality of the menstrual cycle 90% Diabetes mellitus 90% Hypertension 90% Insulin resistance 90% Acanthosis nigricans 50% Hepatic steatosis 50% Hyperuricemia 50% Cirrhosis 7.5% Coronary artery disease 7.5% Hypertrichosis 7.5% Polycystic ovaries 7.5% Toxemia of pregnancy 7.5% Abnormality of the face - Abnormality of the musculature - Abnormality of the neck - Autosomal dominant inheritance - Decreased subcutaneous fat - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Insulin-resistant diabetes mellitus - Lipodystrophy - Loss of gluteal subcutaneous adipose tissue - Loss of subcutaneous adipose tissue in limbs - Maternal diabetes - Oligomenorrhea - Preeclampsia - Primary amenorrhea - Prominent superficial veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial partial lipodystrophy associated with PPARG mutations +What is (are) Pyruvate carboxylase deficiency ?,"Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.",GARD,Pyruvate carboxylase deficiency +What are the symptoms of Pyruvate carboxylase deficiency ?,"What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyruvate carboxylase deficiency +Is Pyruvate carboxylase deficiency inherited ?,"How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.",GARD,Pyruvate carboxylase deficiency +What are the symptoms of Microcephaly brain defect spasticity hypernatremia ?,"What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephaly brain defect spasticity hypernatremia +What are the symptoms of Kallmann syndrome 6 ?,"What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia 7.5% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kallmann syndrome 6 +"What are the symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ?","What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Arthritis - Autosomal recessive inheritance - Cerebral hypomyelination - Chronic gastritis - CNS hypomyelination - Corpus callosum atrophy - Diarrhea - Dysphagia - Eczema - Elevated erythrocyte sedimentation rate - Failure to thrive - Generalized tonic-clonic seizures - Horizontal nystagmus - IgG deficiency - Inflammation of the large intestine - Leukoencephalopathy - Muscular hypotonia - Neutropenia - Postnatal microcephaly - Recurrent infections - Severe global developmental delay - Spastic tetraparesis - Ventriculomegaly - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" +What is (are) Lyme disease ?,"Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve symptoms.",GARD,Lyme disease +What are the symptoms of Lyme disease ?,"What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypermelanotic macule 90% Arthritis 50% Cranial nerve paralysis 50% Joint swelling 50% Meningitis 50% Abnormality of temperature regulation 7.5% Amaurosis fugax 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Arthralgia 7.5% Encephalitis 7.5% Inflammatory abnormality of the eye 7.5% Insomnia 7.5% Memory impairment 7.5% Migraine 7.5% Muscle weakness 7.5% Myalgia 7.5% Nausea and vomiting 7.5% Paresthesia 7.5% Photophobia 7.5% Skin rash 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lyme disease +"What are the symptoms of Palmoplantar keratoderma, epidermolytic ?","What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Verrucae 90% Abnormality of the fingernails 50% Eczema 50% Hyperhidrosis 50% Autosomal dominant inheritance - Increased IgE level - Localized epidermolytic hyperkeratosis - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Palmoplantar keratoderma, epidermolytic" +What is (are) Bilateral frontal polymicrogyria ?,Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.,GARD,Bilateral frontal polymicrogyria +What is (are) GM1 gangliosidosis type 2 ?,"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.",GARD,GM1 gangliosidosis type 2 +What are the symptoms of GM1 gangliosidosis type 2 ?,"What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the liver - Abnormality of the spleen - Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Coxa valga - Gait disturbance - Generalized myoclonic seizures - Optic atrophy - Platyspondyly - Progressive psychomotor deterioration - Sea-blue histiocytosis - Spastic tetraplegia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GM1 gangliosidosis type 2 +What is (are) Limited systemic sclerosis ?,"Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body). When fibrosis affects internal organs, it can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).",GARD,Limited systemic sclerosis +What is (are) Junctional epidermolysis bullosa ?,"Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.",GARD,Junctional epidermolysis bullosa +What are the symptoms of Junctional epidermolysis bullosa ?,"What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Abnormality of the stomach 50% Duodenal stenosis 50% Pruritus 50% Subcutaneous hemorrhage 50% Alopecia 7.5% Anemia 7.5% Corneal erosion 7.5% Dehydration 7.5% Finger syndactyly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Laryngeal cyst 7.5% Limitation of joint mobility 7.5% Nausea and vomiting 7.5% Onycholysis 7.5% Polyhydramnios 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sepsis 7.5% Skin ulcer 7.5% Toe syndactyly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Junctional epidermolysis bullosa +What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ?,"What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Male pseudohermaphroditism due to defective LH molecule +What are the symptoms of Fitzsimmons-Guilbert syndrome ?,"What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fitzsimmons-Guilbert syndrome +What is (are) Hemophilia B ?,"Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene.",GARD,Hemophilia B +What are the symptoms of Hemophilia B ?,"What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemophilia B +What are the symptoms of Myeloperoxidase deficiency ?,"What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myeloperoxidase deficiency +What is (are) Primrose syndrome ?,"Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is supportive.",GARD,Primrose syndrome +What are the symptoms of Primrose syndrome ?,"What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primrose syndrome +What causes Primrose syndrome ?,What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.,GARD,Primrose syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 2N ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2N +What is (are) Young syndrome ?,"Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . The condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. Although the exact cause has not been identified, it is believed to be a genetic condition. At this time, there is no known effective treatment or cure for Young syndrome.",GARD,Young syndrome +What are the symptoms of Young syndrome ?,"What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased fertility 90% Recurrent respiratory infections 90% Abnormality of the pancreas 50% Autosomal recessive inheritance - Azoospermia - Bronchiectasis - Congenital cystic adenomatoid malformation of the lung - Recurrent bronchitis - Recurrent sinopulmonary infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Young syndrome +What are the symptoms of Subaortic stenosis short stature syndrome ?,"What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Subaortic stenosis short stature syndrome +What are the symptoms of 20p12.3 microdeletion syndrome ?,"What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,20p12.3 microdeletion syndrome +What is (are) Hereditary sensory and autonomic neuropathy type V ?,"Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury.",GARD,Hereditary sensory and autonomic neuropathy type V +What are the symptoms of Hereditary sensory and autonomic neuropathy type V ?,"What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anhidrosis 7.5% Episodic fever 5% Intellectual disability, mild 5% Acral ulceration and osteomyelitis leading to autoamputation of digits - Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) - Autosomal recessive inheritance - Infantile onset - Pain insensitivity - Painless fractures due to injury - Self-mutilation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary sensory and autonomic neuropathy type V +What is (are) Rhabdoid tumor ?,"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings they are considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.",GARD,Rhabdoid tumor +What are the symptoms of Rhabdoid tumor ?,"What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nausea and vomiting 90% Neoplasm of the nervous system 90% Abdominal pain 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Abnormality of the skin 50% Behavioral abnormality 50% Cerebral palsy 50% Cranial nerve paralysis 50% Hematuria 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Hypertension 50% Incoordination 50% Limitation of joint mobility 50% Lymphadenopathy 50% Macrocephaly 50% Migraine 50% Muscle weakness 50% Neoplasm of the liver 50% Ophthalmoparesis 50% Renal neoplasm 50% Respiratory insufficiency 50% Sarcoma 50% Seizures 50% Sleep disturbance 50% Weight loss 50% Anemia 7.5% Cerebral calcification 7.5% Hypercalcemia 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Choroid plexus carcinoma - Medulloblastoma - Neoplasm of the central nervous system - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rhabdoid tumor +What are the symptoms of Chiari malformation type 3 ?,"What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chiari malformation type 3 +What is (are) Pyogenic granuloma ?,"Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers.",GARD,Pyogenic granuloma +What are the symptoms of Woolly hair syndrome ?,"What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fine hair 90% Woolly hair 90% Hypopigmentation of hair 50% Slow-growing hair 50% Abnormal hair quantity 7.5% Abnormality of the pupil 7.5% Abnormality of the retinal vasculature 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cataract 7.5% Strabismus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Woolly hair syndrome +"What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ?","What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina" +What is (are) Marshall syndrome ?,"Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.",GARD,Marshall syndrome +What are the symptoms of Marshall syndrome ?,"What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Aplasia/Hypoplasia involving the nose 90% Arthralgia 90% Depressed nasal bridge 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Malar flattening 90% Myopia 90% Sensorineural hearing impairment 90% Short stature 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Abnormality of the vitreous humor 50% Cleft palate 50% Craniofacial hyperostosis 50% Genu valgum 50% Glaucoma 50% Hypohidrosis 50% Osteoarthritis 50% Proptosis 50% Retinal detachment 50% Visual impairment 50% Aplasia/Hypoplasia of the eyebrow 7.5% Frontal bossing 7.5% Nystagmus 7.5% Absent frontal sinuses - Autosomal dominant inheritance - Calcification of falx cerebri - Congenital cataract - Coxa valga - Epicanthus - Esotropia - Flat midface - Hypoplastic ilia - Irregular distal femoral epiphysis - Irregular proximal tibial epiphyses - Lens luxation - Low-set ears - Macrodontia of permanent maxillary central incisor - Meningeal calcification - Pierre-Robin sequence - Platyspondyly - Radial bowing - Short nose - Small distal femoral epiphysis - Small proximal tibial epiphyses - Thick upper lip vermilion - Thickened calvaria - Ulnar bowing - Vitreoretinal degeneration - Wide tufts of distal phalanges - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marshall syndrome +What is (are) Infectious arthritis ?,"Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. In reactive arthritis, joint inflammation develops weeks, months or even years after the infection. Reactive arthritis happens most commonly after infections of the genital and gastrointestinal tracts. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery.",GARD,Infectious arthritis +What is (are) Cold urticaria ?,"Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.",GARD,Cold urticaria +What are the symptoms of Cold urticaria ?,"What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death.",GARD,Cold urticaria +What causes Cold urticaria ?,"What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.",GARD,Cold urticaria +Is Cold urticaria inherited ?,Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.,GARD,Cold urticaria +How to diagnose Cold urticaria ?,"How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in which a cold object (such as an ice cube) is applied against the skin of the forearm for 1-5 minutes. In people affected by cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. A complete blood count and/or metabolic tests may also be performed to determine associated diseases.",GARD,Cold urticaria +What are the treatments for Cold urticaria ?,"How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol",GARD,Cold urticaria +What are the symptoms of Succinic acidemia ?,"What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Lactic acidosis - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Succinic acidemia +What is (are) Mosaic trisomy 14 ?,"Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.",GARD,Mosaic trisomy 14 +What are the symptoms of Mosaic trisomy 14 ?,"What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells. Some of the more commonly reported characteristics of the condition include: intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate) Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Frontal bossing 90% Prominent nasal bridge 90% Short neck 90% Short stature 90% Wide mouth 90% Anteverted nares 50% Blepharophimosis 50% Cleft palate 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Ectopic anus 50% Hypertelorism 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Seizures 50% Single transverse palmar crease 50% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Camptodactyly of finger 7.5% Lower limb asymmetry 7.5% Ptosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mosaic trisomy 14 +What causes Mosaic trisomy 14 ?,"What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet.",GARD,Mosaic trisomy 14 +What are the treatments for Mosaic trisomy 14 ?,"How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be treated aggressively and early. Some infants and children with the condition may need surgical repair of certain craniofacial, genital, or other abnormalities. Early intervention may be important in ensuring that children with the reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services.",GARD,Mosaic trisomy 14 +What is (are) Nevoid basal cell carcinoma syndrome ?,"Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.",GARD,Nevoid basal cell carcinoma syndrome +What are the symptoms of Nevoid basal cell carcinoma syndrome ?,"What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads) skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae) medulloblastoma (childhood brain tumor) in about 5% of affected children multiple jaw keratocysts (usually in the second decade of life) basal cell carcinoma sebaceous and dermoid cysts cardiac and ovarian fibromas The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone cyst 90% Melanocytic nevus 90% Neoplasm of the skin 90% Osteolysis 90% Sacrococcygeal pilonidal abnormality 90% Skin ulcer 90% Abnormal form of the vertebral bodies 50% Abnormality of the neck 50% Brachydactyly syndrome 50% Frontal bossing 50% Intestinal polyposis 50% Macrocephaly 50% Palmoplantar keratoderma 50% Polycystic ovaries 50% Scoliosis 50% Spina bifida occulta 50% Wide nasal bridge 50% Abnormality of dental enamel 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the metacarpal bones 7.5% Abnormality of the pleura 7.5% Abnormality of the ribs 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arachnodactyly 7.5% Bronchogenic cyst 7.5% Carious teeth 7.5% Cataract 7.5% Chorea 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Glioma 7.5% Gynecomastia 7.5% Hand polydactyly 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Mandibular prognathia 7.5% Medulloblastoma 7.5% Meningioma 7.5% Neoplasm of the heart 7.5% Nystagmus 7.5% Optic nerve coloboma 7.5% Oral cleft 7.5% Ovarian neoplasm 7.5% Proptosis 7.5% Renal cyst 7.5% Sarcoma 7.5% Seizures 7.5% Strabismus 7.5% Tall stature 7.5% Telecanthus 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Intellectual disability 5% Abnormality of the sternum - Autosomal dominant inheritance - Basal cell carcinoma - Bifid ribs - Bridged sella turcica - Calcification of falx cerebri - Cardiac fibroma - Cardiac rhabdomyoma - Cleft palate - Cleft upper lip - Coarse facial features - Down-sloping shoulders - Hamartomatous stomach polyps - Hemivertebrae - Heterogeneous - Irregular ossification of hand bones - Kyphoscoliosis - Microphthalmia - Milia - Motor delay - Odontogenic keratocysts of the jaw - Orbital cyst - Ovarian fibroma - Palmar pits - Parietal bossing - Plantar pits - Polydactyly - Short 4th metacarpal - Short distal phalanx of the thumb - Short ribs - Skin tags - Spina bifida - Sprengel anomaly - Supernumerary ribs - Variable expressivity - Vertebral fusion - Vertebral wedging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nevoid basal cell carcinoma syndrome +Is Nevoid basal cell carcinoma syndrome inherited ?,"How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS.",GARD,Nevoid basal cell carcinoma syndrome +What are the treatments for Nevoid basal cell carcinoma syndrome ?,"How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin. Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of recurrence.",GARD,Nevoid basal cell carcinoma syndrome +What are the symptoms of Waardenburg syndrome type 3 ?,"What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Finger syndactyly 90% Hearing impairment 90% Limitation of joint mobility 90% Microcephaly 90% Narrow nasal bridge 90% Synostosis of carpal bones 90% Tented upper lip vermilion 90% Thick eyebrow 90% Atelectasis 50% Hypopigmentation of hair 50% Telecanthus 50% Acrocyanosis 7.5% Atria septal defect 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Hypertonia 7.5% Tracheomalacia 7.5% Aganglionic megacolon - Autosomal dominant contiguous gene syndrome - Autosomal recessive inheritance - Blue irides - Brachydactyly syndrome - Carpal synostosis - Clinodactyly - Cutaneous finger syndactyly - Heterochromia iridis - Hypopigmented skin patches - Intellectual disability - Mandibular prognathia - Partial albinism - Premature graying of hair - Prominent nasal bridge - Scapular winging - Sensorineural hearing impairment - Spastic paraplegia - Synophrys - Variable expressivity - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Waardenburg syndrome type 3 +What are the symptoms of Microphthalmia syndromic 8 ?,"What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia syndromic 8 +What are the symptoms of PPM-X syndrome ?,"What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,PPM-X syndrome +What are the symptoms of Van Bogaert-Hozay syndrome ?,"What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Abnormality of the pinna - Astigmatism - Autosomal recessive inheritance - Depressed nasal bridge - Distal ulnar hypoplasia - Intellectual disability, mild - Misalignment of teeth - Myopia - Osteolytic defects of the phalanges of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Van Bogaert-Hozay syndrome +What is (are) Juvenile retinoschisis ?,"Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications.",GARD,Juvenile retinoschisis +What are the symptoms of Juvenile retinoschisis ?,"What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of eye movement 90% Cataract 90% Chorioretinal coloboma 90% Glaucoma 90% Chorioretinal atrophy - Cystic retinal degeneration - Progressive visual loss - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Retinal atrophy - Retinal detachment - Retinoschisis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile retinoschisis +What causes Juvenile retinoschisis ?,"What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a ""spoke-wheel"" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision. Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.",GARD,Juvenile retinoschisis +Is Juvenile retinoschisis inherited ?,"How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.",GARD,Juvenile retinoschisis +What are the treatments for Juvenile retinoschisis ?,What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage.,GARD,Juvenile retinoschisis +What are the symptoms of Distal myopathy with vocal cord weakness ?,"What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Distal myopathy with vocal cord weakness +What is (are) Freeman Sheldon syndrome ?,"Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).",GARD,Freeman Sheldon syndrome +What are the symptoms of Freeman Sheldon syndrome ?,"What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Freeman Sheldon syndrome +How to diagnose Freeman Sheldon syndrome ?,"How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.",GARD,Freeman Sheldon syndrome +What is (are) Steatocystoma multiplex ?,"Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation.",GARD,Steatocystoma multiplex +What are the symptoms of Steatocystoma multiplex ?,"What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well.The cysts are typically filled with a yellowish to white, oily fluid, and occasionally have hair within them. The cysts can become infected and may cause pain and scarring. The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenoma sebaceum 90% Nephrolithiasis 7.5% Autosomal dominant inheritance - Steatocystoma multiplex - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Steatocystoma multiplex +What causes Steatocystoma multiplex ?,"What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family. In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth.",GARD,Steatocystoma multiplex +What are the treatments for Steatocystoma multiplex ?,"How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts. In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening. Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling. Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition.",GARD,Steatocystoma multiplex +What is (are) Tetrahydrobiopterin deficiency ?,"Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.",GARD,Tetrahydrobiopterin deficiency +What are the symptoms of Tetrahydrobiopterin deficiency ?,"What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Abnormality of eye movement - Ataxia - Autosomal recessive inheritance - Bradykinesia - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Hyperreflexia - Hypertonia - Infantile onset - Intellectual disability - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Motor delay - Muscular hypotonia - Muscular hypotonia of the trunk - Myoclonus - Parkinsonism - Poor suck - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Small for gestational age - Somnolence - Transient hyperphenylalaninemia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetrahydrobiopterin deficiency +What are the symptoms of Meckel syndrome type 2 ?,"What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Meckel syndrome type 2 +What is (are) Adenocarcinoma of the appendix ?,"Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkins lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly mucinous epithelial neoplasms, also called adenomas, cystadenoma, and benign neoplastic mucocele. Adenocarcinoma of the appendix is a epithelial cancer of the appendix. The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions. Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of appendix (which is the rarer involving only 4% of all the subtypes of appendix cancer).",GARD,Adenocarcinoma of the appendix +What are the symptoms of Adenocarcinoma of the appendix ?,"What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness.",GARD,Adenocarcinoma of the appendix +How to diagnose Adenocarcinoma of the appendix ?,How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.,GARD,Adenocarcinoma of the appendix +"What is (are) Hepatocellular carcinoma, childhood ?","Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.",GARD,"Hepatocellular carcinoma, childhood" +"What are the symptoms of Hepatocellular carcinoma, childhood ?","What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hepatocellular carcinoma, childhood" +"What causes Hepatocellular carcinoma, childhood ?","What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.",GARD,"Hepatocellular carcinoma, childhood" +What is (are) Macrodactyly of the hand ?,"Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem.",GARD,Macrodactyly of the hand +What is (are) Trichotillomania ?,"Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The condition may be mild and manageable, or severe and debilitating. Some individuals chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems. The exact cause of the condition is unknown. Treatment typically involves psychotherapy (including cognitive behavior therapy) and/or drug therapy, but these are not always effective.",GARD,Trichotillomania +What are the symptoms of Trichotillomania ?,"What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal dominant inheritance - Hair-pulling - Multifactorial inheritance - Obsessive-compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichotillomania +What are the treatments for Trichotillomania ?,"How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be helpful to stop the behavior. Professional cognitive behavior therapy (CBT) is recommended if initial approaches are unsuccessful. CBT typically involves self monitoring (keeping records of the behavior); habit-reversal training; and stimulus control (organizing the environment). CBT is typically effective in highly motivated and compliant patients. The success of therapy may depend on firm understanding of the illness and the cooperation of the family members to help the affected individual comply with treatment. Several courses of CBT may be needed. No medication has been approved for the treatment of trichotillomania, and medications used have not been consistently effective. Selective serotonin reuptake inhibitors have been utilized but responses to treatment have not been consistent. Fortunately, several recent studies regarding drug therapy for trichotillomania show promise. While drug therapy alone is currently generally not effective, combination therapy and other treatments may be helpful. More detailed information about current treatment options for trichotillomania is available on Medscape Reference's Web site and can be viewed by clicking here. You may need to register on the Web site, but registration is free.",GARD,Trichotillomania +What is (are) 11-beta-hydroxylase deficiency ?,"Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.",GARD,11-beta-hydroxylase deficiency +What are the symptoms of 11-beta-hydroxylase deficiency ?,"What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Accelerated skeletal maturation - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Hyperpigmentation of the skin - Hypertension - Hypokalemia - Hypoplasia of the uterus - Hypoplasia of the vagina - Long penis - Neonatal onset - Precocious puberty in males - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,11-beta-hydroxylase deficiency +Is 11-beta-hydroxylase deficiency inherited ?,"How is 11-beta-hydroxylase deficiency inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,11-beta-hydroxylase deficiency +How to diagnose 11-beta-hydroxylase deficiency ?,Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.,GARD,11-beta-hydroxylase deficiency +What are the symptoms of Spinocerebellar ataxia 4 ?,"What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Distal sensory impairment - Dysarthria - Hyporeflexia - Impaired smooth pursuit - Limb dysmetria - Progressive cerebellar ataxia - Sensory neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 4 +What is (are) Primary spontaneous pneumothorax ?,"Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.",GARD,Primary spontaneous pneumothorax +What are the symptoms of Primary spontaneous pneumothorax ?,"What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pleura 90% Autosomal dominant inheritance - Incomplete penetrance - Spontaneous pneumothorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary spontaneous pneumothorax +"What are the symptoms of Aganglionosis, total intestinal ?","What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Total intestinal aganglionosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Aganglionosis, total intestinal" +What are the symptoms of Gupta Patton syndrome ?,"What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gupta Patton syndrome +"What are the symptoms of Hypomagnesemia 2, renal ?","What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypomagnesemia - Renal magnesium wasting - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hypomagnesemia 2, renal" +What is (are) Spondylocostal dysostosis 1 ?,"Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 1 is caused by mutations in the DLL3 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.",GARD,Spondylocostal dysostosis 1 +What are the symptoms of Spondylocostal dysostosis 1 ?,"What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Death in infancy - Disproportionate short-trunk short stature - Hemivertebrae - Recurrent respiratory infections - Rib fusion - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylocostal dysostosis 1 +What is (are) Takayasu arteritis ?,"Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.",GARD,Takayasu arteritis +What are the symptoms of Takayasu arteritis ?,"What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Aneurysm 90% Hyperhidrosis 90% Hypertensive crisis 90% Vasculitis 90% Weight loss 90% Abnormal pattern of respiration 50% Abnormality of the aortic valve 50% Anemia 50% Anorexia 50% Arthritis 50% Chest pain 50% Coronary artery disease 50% Dilatation of the ascending aorta 50% Gangrene 50% Hypertrophic cardiomyopathy 50% Inflammatory abnormality of the eye 50% Migraine 50% Muscle weakness 50% Myalgia 50% Pulmonary hypertension 50% Seizures 50% Skin ulcer 50% Visual impairment 50% Abnormality of the endocardium 7.5% Amaurosis fugax 7.5% Arthralgia 7.5% Cerebral ischemia 7.5% Gastrointestinal infarctions 7.5% Hemoptysis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Retinopathy 7.5% Arteritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Takayasu arteritis +What are the treatments for Takayasu arteritis ?,"How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.",GARD,Takayasu arteritis +What are the symptoms of Cataract anterior polar dominant ?,"What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract anterior polar dominant +What is (are) Hereditary elliptocytosis ?,"Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.",GARD,Hereditary elliptocytosis +What is (are) Chromosome 14q deletion ?,"Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.",GARD,Chromosome 14q deletion +What are the symptoms of Familial hyperaldosteronism type III ?,"What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypercalciuria 5% Metabolic acidosis 5% Polydipsia 5% Polyuria 5% Adrenal hyperplasia - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Hypokalemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hyperaldosteronism type III +What is (are) Florid cemento-osseous dysplasia ?,"Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the jaw and are symmetrical. The number, size, and shape of the lesions vary. Occasionally the lesions expand and may cause discomfort, pain, or mild disfigurement. The radiographic appearance of the lesions are important for diagnosis.",GARD,Florid cemento-osseous dysplasia +What are the symptoms of Florid cemento-osseous dysplasia ?,"What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Florid cemento-osseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cementoma - Misalignment of teeth - Multiple impacted teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Florid cemento-osseous dysplasia +What causes Florid cemento-osseous dysplasia ?,"What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid.",GARD,Florid cemento-osseous dysplasia +How to diagnose Florid cemento-osseous dysplasia ?,"How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia.",GARD,Florid cemento-osseous dysplasia +What are the treatments for Florid cemento-osseous dysplasia ?,"How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area. http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities.",GARD,Florid cemento-osseous dysplasia +What is (are) Apert syndrome ?,"Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.",GARD,Apert syndrome +What are the symptoms of Apert syndrome ?,"What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate). The Human Phenotype Ontology provides the following list of signs and symptoms for Apert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Malar flattening 90% Proptosis 90% Toe syndactyly 90% Abnormality of the fontanelles or cranial sutures 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Convex nasal ridge 50% Delayed eruption of teeth 50% Facial asymmetry 50% Hypertelorism 50% Hypertension 50% Mandibular prognathia 50% Strabismus 50% Vertebral segmentation defect 50% Arnold-Chiari malformation 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cloverleaf skull 7.5% Corneal erosion 7.5% Ectopic anus 7.5% Hydrocephalus 7.5% Limb undergrowth 7.5% Optic atrophy 7.5% Ovarian neoplasm 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Postaxial hand polydactyly 5% Preaxial hand polydactyly 5% Absent septum pellucidum - Acne - Acrobrachycephaly - Agenesis of corpus callosum - Anomalous tracheal cartilage - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Bifid uvula - Brachyturricephaly - Broad distal hallux - Broad distal phalanx of the thumb - Broad forehead - Cervical vertebrae fusion (C5/C6) - Choanal stenosis - Chronic otitis media - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed cranial suture closure - Dental malocclusion - Esophageal atresia - Flat face - Growth abnormality - Hearing impairment - High forehead - Humeroradial synostosis - Hydronephrosis - Hypoplasia of midface - Intellectual disability - Large fontanelles - Limbic malformations - Megalencephaly - Narrow palate - Overriding aorta - Posterior fossa cyst - Pyloric stenosis - Shallow orbits - Synostosis of carpal bones - Vaginal atresia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Apert syndrome +How to diagnose Apert syndrome ?,"How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets; Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.",GARD,Apert syndrome +"What are the symptoms of Coxa vara, congenital ?","What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Coxa vara, congenital" +What is (are) Buschke Lowenstein tumor ?,"Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begins with removal by surgery. Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type.",GARD,Buschke Lowenstein tumor +What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia Shohat type +What is (are) Noonan syndrome 4 ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome 4 +What are the symptoms of Noonan syndrome 4 ?,"What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan syndrome 4 +What are the treatments for Noonan syndrome 4 ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome 4 +What are the symptoms of PAGOD syndrome ?,"What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Aplasia/Hypoplasia of the lungs 90% Abnormality of female internal genitalia 50% Abnormality of the testis 50% Congenital diaphragmatic hernia 50% Female pseudohermaphroditism 50% Hypoplastic left heart 50% Multicystic kidney dysplasia 50% Omphalocele 50% Renal hypoplasia/aplasia 50% Abnormality of neuronal migration 7.5% Abnormality of the aorta 7.5% Abnormality of the clavicle 7.5% Abnormality of the ribs 7.5% Abnormality of the spleen 7.5% Asymmetric growth 7.5% Encephalocele 7.5% Meningocele 7.5% Microcephaly 7.5% Optic atrophy 7.5% Short stature 7.5% Situs inversus totalis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,PAGOD syndrome +What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ?,"What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hepatic venoocclusive disease with immunodeficiency +"What are the symptoms of Pheochromocytoma, childhood ?","What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pheochromocytoma, childhood" +What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2B2 +What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ?,"What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypermanganesemia with dystonia polycythemia and cirrhosis +What is (are) Acromesomelic dysplasia ?,"Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type",GARD,Acromesomelic dysplasia +What are the symptoms of Acromesomelic dysplasia ?,"What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose. During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis). Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers. During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding. The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acromesomelic dysplasia +What are the symptoms of Infantile Parkinsonism-dystonia ?,"What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Chorea - Constipation - Delayed gross motor development - Dyskinesia - Feeding difficulties - Gastroesophageal reflux - Hypertonia - Infantile onset - Limb dystonia - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Parkinsonism - Progressive - Rigidity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infantile Parkinsonism-dystonia +What is (are) Pierson syndrome ?,"Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.",GARD,Pierson syndrome +What are the symptoms of Pierson syndrome ?,"What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pierson syndrome +Is Pierson syndrome inherited ?,"How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier",GARD,Pierson syndrome +How to diagnose Pierson syndrome ?,"Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.",GARD,Pierson syndrome +What is (are) Empty sella syndrome ?,"Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.",GARD,Empty sella syndrome +What are the symptoms of Empty sella syndrome ?,"What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Empty sella syndrome +Is Empty sella syndrome inherited ?,"Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor.",GARD,Empty sella syndrome +What is (are) Achondroplasia and severe combined immunodeficiency ?,"Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.",GARD,Achondroplasia and severe combined immunodeficiency +What are the symptoms of Achondroplasia and severe combined immunodeficiency ?,"What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondroplasia and severe combined immunodeficiency +What is (are) Gardner-Diamond syndrome ?,"Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.",GARD,Gardner-Diamond syndrome +What are the symptoms of Gardner-Diamond syndrome ?,"What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue. This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear. Bruises typically go away in approximately 7-10 days. However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.",GARD,Gardner-Diamond syndrome +What causes Gardner-Diamond syndrome ?,"What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots) increased fibrinolysis - an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding autoerythrocyte sensitization - an autoimmune reaction to the affected person's own red blood cells (erythrocytes)",GARD,Gardner-Diamond syndrome +How to diagnose Gardner-Diamond syndrome ?,"How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.",GARD,Gardner-Diamond syndrome +What are the treatments for Gardner-Diamond syndrome ?,"How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the symptoms. For example, in a person with GDS and an underlying personality disorder, medications used to treat the personality disorder may help with the symptoms of GDS. Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms. It has been proposed that certain medications used to alter the tonus of the capillaries (how they contract), the permeability of the vessels, and/or the flowing properties of the blood may be useful for some people. Symptomatic therapy may be helpful for severe, general symptoms. Several approaches including antihistamines, corticosteroids, antidepressants, hormones, and vitamins have had variable success.",GARD,Gardner-Diamond syndrome +What is (are) Achondrogenesis type 2 ?,"Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.",GARD,Achondrogenesis type 2 +What are the symptoms of Achondrogenesis type 2 ?,"What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Polyhydramnios 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormality of the foot - Absent vertebral body mineralization - Autosomal dominant inheritance - Barrel-shaped chest - Broad long bones - Cleft palate - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Horizontal ribs - Hypoplastic iliac wing - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondrogenesis type 2 +What is (are) Pearson syndrome ?,Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.,GARD,Pearson syndrome +What are the symptoms of Pearson syndrome ?,"What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pearson syndrome +What is (are) Multiple pterygium syndrome Escobar type ?,"Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.",GARD,Multiple pterygium syndrome Escobar type +What are the symptoms of Multiple pterygium syndrome Escobar type ?,"What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple pterygium syndrome Escobar type +What causes Multiple pterygium syndrome Escobar type ?,"What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.",GARD,Multiple pterygium syndrome Escobar type +How to diagnose Multiple pterygium syndrome Escobar type ?,"How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis. Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.",GARD,Multiple pterygium syndrome Escobar type +What are the treatments for Multiple pterygium syndrome Escobar type ?,"How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.",GARD,Multiple pterygium syndrome Escobar type +What is (are) Tetrasomy X ?,"Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.",GARD,Tetrasomy X +What are the symptoms of Tetrasomy X ?,"What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetrasomy X +What causes Tetrasomy X ?,"What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.",GARD,Tetrasomy X +"What are the symptoms of Pancreatic cancer, childhood ?","What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the pancreas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pancreatic cancer, childhood" +What are the symptoms of Radio renal syndrome ?,"What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the elbow 90% Abnormality of the palate 90% Abnormality of the pleura 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Micromelia 90% Multicystic kidney dysplasia 90% Renal hypoplasia/aplasia 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Abnormality of chromosome stability - Absent radius - Absent thumb - Autosomal dominant inheritance - Ectopic kidney - External ear malformation - Renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Radio renal syndrome +What is (are) Madelung disease ?,"Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.",GARD,Madelung disease +What are the symptoms of Madelung disease ?,"What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Limitation of joint mobility 90% Multiple lipomas 90% Gait disturbance 50% Hepatomegaly 50% Insulin resistance 50% Paresthesia 50% Abnormality of the skin - Autosomal dominant inheritance - Lipoma - Peripheral neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Madelung disease +What causes Madelung disease ?,"What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.",GARD,Madelung disease +Is Madelung disease inherited ?,"Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.",GARD,Madelung disease +How to diagnose Madelung disease ?,"How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.",GARD,Madelung disease +What are the treatments for Madelung disease ?,"How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive ""debulking"" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.",GARD,Madelung disease +What are the symptoms of Bangstad syndrome ?,"What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the parathyroid gland 90% Abnormality of the teeth 90% Abnormality of the testis 90% Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Deviation of finger 90% EEG abnormality 90% Hypercortisolism 90% Hyperinsulinemia 90% Hypothyroidism 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Polycystic ovaries 90% Seizures 90% Short stature 90% Sloping forehead 90% Type I diabetes mellitus 90% Autosomal recessive inheritance - Brain very small - Cerebral hypoplasia - Goiter - Insulin-resistant diabetes mellitus - Intellectual disability - Large eyes - Narrow face - Pancytopenia - Primary gonadal insufficiency - Progressive cerebellar ataxia - Retrognathia - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bangstad syndrome +What is (are) Fetal hydantoin syndrome ?,"Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.",GARD,Fetal hydantoin syndrome +What are the symptoms of Fetal hydantoin syndrome ?,"What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. Few infants exposed only to phenytoin have all of the characteristic that have been reported. Children with this condition may be small at birth, with increased hair on the body and face, and with poorly developed fingernails and toenails. They may also have poor muscle tone. Facial features that may be present with this syndrome include a flat bridge of the nose; an underdeveloped vertical groove in the center of the upper lip (philtrum); a large mouth; and malformed ears. Features specific to the eyes may include down-slanted eyes; widely spaced eyes (hypertelorism); crossed eyes (strabismus); drooping eyelids (ptosis); and/or epicanthal folds (skin folds of the eyelid covering the inner corner of the eye). Other features that have been reported include a short or webbed neck and low-set hair line. Growth deficiencies may include underdeveloped fingers and/or toes, malformed nails, as well as finger-like thumbs. These features are often associated with growth delay and varying degrees of developmental delay. The risk for an affected child to be neurologically impaired is estimated at 1 to 11 % (two to three times higher than for the general population). The risk of cleft lip and/or palate and heart defects is estimated to be about five times higher among exposed infants. Some case reports have suggested an increased risk for the occurrence of benign (noncancerous) or malignant (cancerous) tumors, such as neuroblastoma or other neonatal tumors (ependymoma, ectodermal tumors, Wilms tumor). The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal hydantoin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Depressed nasal ridge 90% Hearing abnormality 90% Low-set, posteriorly rotated ears 90% Short nose 90% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nipple 50% Anonychia 50% Bifid scrotum 50% Brachydactyly syndrome 50% Coarse hair 50% Cognitive impairment 50% Epicanthus 50% Hernia 50% Hypertelorism 50% Intrauterine growth retardation 50% Low posterior hairline 50% Microcephaly 50% Ptosis 50% Short stature 50% Strabismus 50% Thickened nuchal skin fold 50% Triphalangeal thumb 50% Wide mouth 50% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Neoplasm 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fetal hydantoin syndrome +What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ?,"What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary hemorrhagic telangiectasia type 4 +What are the symptoms of Radio-ulnar synostosis type 2 ?,"What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Radio-ulnar synostosis type 2 +What are the symptoms of Microcephaly deafness syndrome ?,"What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Epicanthus 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Sensorineural hearing impairment 90% Abnormality of the palate 50% Neurological speech impairment 50% Preauricular skin tag 50% Short stature 50% Autosomal dominant inheritance - Cupped ear - Hearing impairment - Intellectual disability - Prominent glabella - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephaly deafness syndrome +What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?,"BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.",GARD,BRCA1 hereditary breast and ovarian cancer syndrome +What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ?,"What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,BRCA1 hereditary breast and ovarian cancer syndrome +What is (are) Logopenic progressive aphasia ?,"Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain.",GARD,Logopenic progressive aphasia +What are the treatments for Logopenic progressive aphasia ?,"How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf",GARD,Logopenic progressive aphasia +What are the symptoms of Baraitser-Winter syndrome ?,"What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Baraitser-Winter syndrome +What are the symptoms of Sakati syndrome ?,"What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the metaphyses 90% Hernia of the abdominal wall 90% Hyperextensible skin 90% Joint hypermobility 90% Macrotia 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Synophrys 90% Abnormality of the pinna - Autosomal dominant inheritance - Broad hallux - Broad thumb - Craniosynostosis - Dental crowding - Hypertelorism - Hypoplasia of the maxilla - Lower limb undergrowth - Low-set ears - Malar flattening - Mandibular prognathia - Oxycephaly - Preaxial hand polydactyly - Shallow orbits - Short neck - Small face - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sakati syndrome +What is (are) Omenn syndrome ?,"Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes. Additional causative genes have been identified. Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved with early diagnosis and treatment with compatible bone marrow or cord blood stem cell transplantation.",GARD,Omenn syndrome +What are the symptoms of Omenn syndrome ?,"What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive often precede the onset of infections. Life-threatening infections caused by common viral, bacterial, and fungal pathogens occur next. Lymphadenopathy and hepatosplenomegaly, both symptoms unique to Omenn syndrome, develop next. The Human Phenotype Ontology provides the following list of signs and symptoms for Omenn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Hepatomegaly 90% Lymphadenopathy 90% Malabsorption 90% Severe combined immunodeficiency 90% Abnormality of eosinophils 50% Abnormality of temperature regulation 50% Aplasia/Hypoplasia of the eyebrow 50% Dry skin 50% Edema 50% Leukocytosis 50% Pruritus 50% Splenomegaly 50% Thickened skin 50% Abnormality of the fingernails 7.5% Abnormality of the metaphyses 7.5% Anemia 7.5% Autoimmunity 7.5% Hypothyroidism 7.5% Lymphoma 7.5% Nephrotic syndrome 7.5% Sepsis 7.5% Thyroiditis 7.5% Autosomal recessive inheritance - B lymphocytopenia - Diarrhea - Eosinophilia - Erythroderma - Failure to thrive - Hypoplasia of the thymus - Hypoproteinemia - Pneumonia - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Severe B lymphocytopenia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Omenn syndrome +What causes Omenn syndrome ?,"What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations. Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.",GARD,Omenn syndrome +What are the treatments for Omenn syndrome ?,"How might Omenn syndrome be treated? The standard treatment for Omenn syndrome is bone marrow transplantation or cord blood stem cell transplantation. General care for any patient with severe combined immunodeficiency (SCID), including Omenn syndrome, includes isolation to prevent infection and meticulous skin and mucosal hygienic practices while the patient is awaiting stem cell reconstitution. Broad-spectrum antibiotics may be administered parenterally while cultures and body fluid analyses are in progress. Parenteral nutrition may also be provided as therapy for diarrhea and failure to thrive. A detailed description of therapeutic options is provided in the referenced eMedicine article.",GARD,Omenn syndrome +"What are the symptoms of Maturity-onset diabetes of the young, type 6 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Maturity-onset diabetes of the young - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 6" +What is (are) Albright's hereditary osteodystrophy ?,"Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene. Treatment consists of calcium and vitamin D supplements.",GARD,Albright's hereditary osteodystrophy +What are the symptoms of Albright's hereditary osteodystrophy ?,"What are the signs and symptoms of Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is a genetic disorder that can cause many different symptoms. People with this disorder usually have short stature, obesity, round face, short bones in the hands and feet (brachydactyly), subcutaneous (under the skin) ossifications (replacement of cartilage by bone), and dimples on affected knuckles. Some people may have mild developmental delay. People with this disorder usually are resistant to parathyroid hormone (which is a condition called pseudohypoparathyroidism). This causes low levels of calcium in the bones and the blood. Low levels of calcium in the blood (hypocalcemia) can cause numbness, seizures, cataracts (cloudy lens in the eye), dental issues, and tetany (muscle twitches and hand and foot spasms). The Human Phenotype Ontology provides the following list of signs and symptoms for Albright's hereditary osteodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal joint morphology 90% Abnormality of calcium-phosphate metabolism 90% Cafe-au-lait spot 90% Gynecomastia 90% Hyperphosphatemia 90% Hyperthyroidism 90% Obesity 90% Precocious puberty 90% Round face 90% Skeletal dysplasia 90% Abnormality of the menstrual cycle 50% Abnormality of the penis 50% Coarse facial features 50% Cognitive impairment 50% Dry skin 50% Goiter 50% Scoliosis 50% Thin skin 50% Abnormality of the hip bone 7.5% Alopecia 7.5% Craniofacial hyperostosis 7.5% Hearing impairment 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Polycystic ovaries 7.5% Recurrent fractures 7.5% Sarcoma 7.5% Testicular neoplasm 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Albright's hereditary osteodystrophy +What causes Albright's hereditary osteodystrophy ?,"What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to parathyroid hormone, depends on whether the mutated allele comes from the father or the mother. Within a family, some patients have isolated features of Albright's hereditary osteodystrophy without hormone resistance (called pseudopseudohypoparathyroidism) and some show the complete clinical picture. This is due to parental imprinting of the GNAS gene. Thus, in individuals with a mutated maternal GNAS allele, the disease is fully expressed while in individuals with a mutated paternal allele the disease is partially expressed and hormone resistance is not present.",GARD,Albright's hereditary osteodystrophy +Is Albright's hereditary osteodystrophy inherited ?,"How is progressive osseous heteroplasia inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or ""turned on,"" in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. The GNAS gene has a complex genomic imprinting pattern. In some cells of the body the maternal copy of the gene is active, while in others the paternal copy is active. Progressive osseous heteroplasia occurs when mutations affect the paternal copy of the gene. Thus, progressive heteroplasia is usually inherited from the father.",GARD,Albright's hereditary osteodystrophy +What are the treatments for Albright's hereditary osteodystrophy ?,"How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate. Examples of phosphate binders include calcium carbonate, calcium acetate, and sevelamer HCl.",GARD,Albright's hereditary osteodystrophy +What is (are) Moyamoya disease ?,"Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name ""moyamoya"" means ""puff of smoke"" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children, but can affect adults. Affected people are at increased risk for blood clots, strokes, and transient ischemic attacks (TIAs) which are frequently accompanied by seizures and muscular weakness, or paralysis on one side of the body. Affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families. Moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors, such as neurofibromatosis, tuberculosis meningitis, sickle cell disease, leptospirosis, brain tumors, Sturge-Weber syndrome, and tuberous sclerosis.",GARD,Moyamoya disease +What are the symptoms of Moyamoya disease ?,"What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Moyamoya disease +What causes Moyamoya disease ?,"What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condition's development in these families. Other people develop moyamoya syndrome or phenomenon. Moyamoya syndrome can occur in association with many different conditions, such as with infections, atherosclerosis (clogged arteries), blood disorders (for example sickle cell disease or beta thalassemia), vasculitis, autoimmune conditions (for example Lupus, thyroid disorders, Sneddon syndrome), connective tissue disorders (for example neurofibromatosis (NF) type 1 or Tuberous sclerosis), chromosome disorders, metabolic diseases, head trauma or radiation, brain tumors, and heart disease, to name a few.",GARD,Moyamoya disease +What are the treatments for Moyamoya disease ?,"How might Moyamoya disease be treated? Treatment for Moyamoya disease should begin early in the disease course to prevent severe complications. Surgery is the mainstay of treatment, and is the only viable long-term treatment. There are several types of revascularization surgeries that can restore blood flow to the brain by opening narrowed blood vessels, or by bypassing blocked arteries. While children usually respond better to revascularization surgery than adults, the majority of individuals have no further strokes or related problems after surgery. No medication can stop the narrowing of the brain's blood vessels, or the development of the thin, fragile vessels that characterize the disease. However, medications are used to treat many of the symptoms of the disease, and are often an important part of the management. Medications may include aspirin (to prevent or reduce the development of small blood clots); calcium channel blockers (which may improve symptoms of headaches and reduce symptoms related to transient ischemic attacks); and anti-seizure medications (when needed for a seizure disorder). In a few cases, anticoagulants may be needed for people with unstable or frequent symptoms. However, they are not used long-term due to the risk of cerebral bleeding. Additional information about the treatment of Moyamoya disease is available on Medscape Reference's Web site. People interested in learning about specific treatment options for themselves or family members should speak with their health care provider.",GARD,Moyamoya disease +What is (are) Hypertryptophanemia ?,"Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Hypertryptophanemia +What are the symptoms of Hypertryptophanemia ?,"What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Neurological speech impairment 90% Abnormality of the elbow 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Abnormality of the knees 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Adducted thumb 50% Aplasia/Hypoplasia of the radius 50% Asymmetry of the thorax 50% Cognitive impairment 50% EEG abnormality 50% Hyperhidrosis 50% Hypertelorism 50% Joint hypermobility 50% Myopia 50% Strabismus 50% Ulnar deviation of finger 50% Aggressive behavior - Camptodactyly of finger - Emotional lability - Generalized joint laxity - Hypersexuality - Limited elbow extension - Pes planus - Tryptophanuria - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypertryptophanemia +What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ?,"What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amelogenesis imperfecta nephrocalcinosis +What is (are) Charcot-Marie-Tooth disease type 2B ?,"Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.",GARD,Charcot-Marie-Tooth disease type 2B +What are the symptoms of Charcot-Marie-Tooth disease type 2B ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2B +What are the symptoms of Cataract microcornea syndrome ?,"What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract microcornea syndrome +"What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ?","What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Aminoaciduria 90% Cognitive impairment 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Microdontia 90% Short stature 90% Type II diabetes mellitus 90% Autosomal recessive inheritance - Diabetes mellitus - Hypoplasia of dental enamel - Lactic acidosis - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" +What are the symptoms of Preaxial polydactyly type 2 ?,"What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Preaxial polydactyly type 2 +What is (are) Lennox-Gastaut syndrome ?,"Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.",GARD,Lennox-Gastaut syndrome +What are the symptoms of Lennox-Gastaut syndrome ?,"What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the periventricular white matter - Abnormality of the teeth - Autosomal recessive inheritance - Depressed nasal bridge - Dysphagia - Enlarged cisterna magna - Epileptic encephalopathy - Frontotemporal cerebral atrophy - Gastroesophageal reflux - Generalized myoclonic seizures - Gingival overgrowth - High forehead - Hypoplasia of the corpus callosum - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Macrocephaly - Posteriorly rotated ears - Progressive - Ptosis - Recurrent respiratory infections - Tented upper lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lennox-Gastaut syndrome +What are the symptoms of Hypertelorism and tetralogy of Fallot ?,"What are the signs and symptoms of Hypertelorism and tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertelorism and tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blepharophimosis - Depressed nasal bridge - Epicanthus - Hypertelorism - Hypospadias - Intellectual disability, mild - Long philtrum - Low-set ears - Patent ductus arteriosus - Patent foramen ovale - Posteriorly rotated ears - Spina bifida occulta - Talipes equinovarus - Tetralogy of Fallot - Tetralogy of Fallot with absent pulmonary valve - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypertelorism and tetralogy of Fallot +What are the symptoms of Charcot-Marie-Tooth disease type 2D ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cold-induced hand cramps - Distal amyotrophy - Distal sensory impairment - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hammertoe - Hyporeflexia - Onset - Pes cavus - Scoliosis - Slow progression - Thenar muscle atrophy - Thenar muscle weakness - Upper limb amyotrophy - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2D +What is (are) Melioidosis ?,"Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms of the disease can vary greatly and may mimic those of tuberculosis or common forms of pneumonia. Signs and symptoms may include pain or swelling, fever, abscess, cough, high fever, headache, trouble breathing, and more. Although healthy people can also experience signs and symptoms of the disease, people with certain conditions like diabetes, liver disease, kidney disease, lung disease, thalassemia, cancer, or certain autoimmune diseases are more severely affected. Diagnosis is made by collecting blood, sputum, urine, or pus samples and growing the bacteria. Current treatment is divided into two stages: an intravenous (IV) antibiotic stage and oral antibiotic maintenance stage to prevent recurrence.",GARD,Melioidosis +"What are the symptoms of Deafness, autosomal recessive 51 ?","What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, autosomal recessive 51" +"What are the symptoms of Mental retardation, X-linked, nonspecific ?","What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autism - Dental crowding - Hyperactivity - Hypertelorism - Intellectual disability - Intellectual disability, moderate - Joint hypermobility - Mandibular prognathia - Open mouth - Short nose - Synophrys - Tented upper lip vermilion - Uplifted earlobe - Upslanted palpebral fissure - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mental retardation, X-linked, nonspecific" +What is (are) Landau-Kleffner syndrome ?,"Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years).",GARD,Landau-Kleffner syndrome +What are the symptoms of Landau-Kleffner syndrome ?,"What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). It most frequently occurs in children between the ages of 2 and 8. The condition affects the part of the brain that controls comprehension and speech. Some children with Landau-Kleffner syndrome develop behavioral problems, including hyperactivity, attention deficits, temper outbursts, impulsivity, and/or withdrawn behaviors. Seizures occur in up to 2/3 of affected children. These complex partial, generalized clonic and atypical absence seizures are generally easy to control and often resolve spontaneously before adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Landau-Kleffner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Agnosia - Aphasia - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Delayed speech and language development - Dysphasia - EEG with centrotemporal focal spike waves - Incomplete penetrance - Seizures - Speech apraxia - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Landau-Kleffner syndrome +How to diagnose Landau-Kleffner syndrome ?,"How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains.",GARD,Landau-Kleffner syndrome +What are the symptoms of Griscelli syndrome type 3 ?,"What are the signs and symptoms of Griscelli syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized hypopigmentation 90% Ocular albinism 7.5% Autosomal recessive inheritance - Heterogeneous - Large clumps of pigment irregularly distributed along hair shaft - Silver-gray hair - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Griscelli syndrome type 3 +What are the symptoms of Dystonia 18 ?,"What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 18 +What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ?,"What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lung lobation 90% Abnormality of female internal genitalia 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the thymus 90% Hypoplasia of the ear cartilage 90% Hypoplastic toenails 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Urogenital fistula 90% Abnormality of metabolism/homeostasis - Abnormality of the endocrine system - Abnormality of the respiratory system - Anal atresia - Autosomal recessive inheritance - Renal agenesis - Ureteral agenesis - Ureteral dysgenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thymic-Renal-Anal-Lung dysplasia +What are the symptoms of Joubert syndrome with oculorenal anomalies ?,"What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nephropathy 90% Chorioretinal coloboma 50% Iris coloboma 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow forehead 50% Nystagmus 50% Ptosis 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Prominent nasal bridge 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Agenesis of cerebellar vermis - Aplasia/Hypoplasia of the cerebellar vermis - Ataxia - Autosomal recessive inheritance - Blindness - Brainstem dysplasia - Dilated fourth ventricle - Dyspnea - Hepatic fibrosis - Hepatic steatosis - Hepatomegaly - Heterotopia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Molar tooth sign on MRI - Nephronophthisis - Occipital meningocele - Polycystic kidney dysplasia - Postaxial foot polydactyly - Postaxial hand polydactyly - Renal corticomedullary cysts - Retinal dystrophy - Stage 5 chronic kidney disease - Tachypnea - Tubular atrophy - Tubulointerstitial fibrosis - Undetectable electroretinogram - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Joubert syndrome with oculorenal anomalies +What is (are) Norrie disease ?,"Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.",GARD,Norrie disease +What are the symptoms of Norrie disease ?,"What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Anterior chamber synechiae 90% Aplasia/Hypoplasia of the iris 90% Cataract 90% Chorioretinal abnormality 90% Deeply set eye 90% Hypotelorism 90% Macrotia 90% Narrow nasal bridge 90% Neoplasm of the eye 90% Opacification of the corneal stroma 90% Sclerocornea 90% Vascular neoplasm 90% Abnormality of the vitreous humor 50% Aplasia/Hypoplasia of the lens 50% Cognitive impairment 50% Erectile abnormalities 50% Nystagmus 50% Retinal detachment 50% Sensorineural hearing impairment 50% Stereotypic behavior 50% Venous insufficiency 50% Abnormality of immune system physiology 7.5% Abnormality of the diencephalon 7.5% Abnormality of the helix 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Decreased body weight 7.5% Developmental regression 7.5% Diabetes mellitus 7.5% Ectopia lentis 7.5% EEG abnormality 7.5% Glaucoma 7.5% Hallucinations 7.5% Hyperreflexia 7.5% Hypertonia 7.5% Hypoplasia of the zygomatic bone 7.5% Involuntary movements 7.5% Microcephaly 7.5% Migraine 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Sleep disturbance 7.5% Thin vermilion border 7.5% Aggressive behavior - Blindness - Dementia - Hypoplasia of the iris - Intellectual disability, progressive - Microphthalmia - Psychosis - Retinal dysplasia - Retinal fold - Shallow anterior chamber - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Norrie disease +What causes Norrie disease ?,"What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease.",GARD,Norrie disease +What are the treatments for Norrie disease ?,"How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.",GARD,Norrie disease +What are the symptoms of Visceral steatosis ?,"What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the genitourinary system - Autosomal recessive inheritance - Coma - Hepatic steatosis - Hypocalcemia - Hypoglycemia - Jaundice - Kernicterus - Lethargy - Muscular hypotonia - Myocardial steatosis - Neonatal death - Renal steatosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Visceral steatosis +What are the symptoms of Trichodental syndrome ?,"What are the signs and symptoms of Trichodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Fine hair 90% Microcephaly 90% Narrow forehead 90% Narrow nasal bridge 90% Reduced number of teeth 90% Slow-growing hair 90% Autosomal dominant inheritance - Brittle hair - Conical tooth - Hypodontia - Shell teeth - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichodental syndrome +What are the symptoms of Severe congenital neutropenia autosomal dominant ?,"What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute monocytic leukemia - Anemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital agranulocytosis - Eosinophilia - Growth abnormality - Increased antibody level in blood - Infantile onset - Monocytosis - Neutropenia - Recurrent bacterial infections - Thrombocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Severe congenital neutropenia autosomal dominant +What is (are) Shapiro syndrome ?,"Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, a ""resetting"" of the temperature of the body to a lower level has been suggested. Although different treatment options have been attempted in some patients, the treatments have been unsuccessful or of doubtful efficacy because of the small number of individuals that have been documented as having this condition.",GARD,Shapiro syndrome +What are the symptoms of Shapiro syndrome ?,"What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the corpus callosum. Additionally, there have been some patients who also produce excessive amounts of urine (polyuria) and have experienced excessive thirst (polydipsia). Given that some people with Shapiro syndrome do not respond well to the various treatment options available for the condition, the symptoms may worsen with time for some people. The Human Phenotype Ontology provides the following list of signs and symptoms for Shapiro syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hyperhidrosis 90% Hypothermia 90% Incoordination 90% Nausea and vomiting 90% Pallor 90% Arrhythmia 50% Reduced consciousness/confusion 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormal pattern of respiration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Diarrhea 7.5% Skin rash 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Shapiro syndrome +What are the treatments for Shapiro syndrome ?,"What treatment options have been attempted for Shapiro syndrome? Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varying responses: anticonvulsants, clonidine, cyproheptadine, glycopyrrolate, bromocriptine, chlorpromazine, or sympathectomy. It is recommended that treatment options be discussed with a health care provider. Only a patient's health care provider can determine the appropriate course of treatment.",GARD,Shapiro syndrome +What is (are) Floating-Harbor syndrome ?,"Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive.",GARD,Floating-Harbor syndrome +What are the symptoms of Floating-Harbor syndrome ?,"What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Floating-Harbor syndrome +What causes Floating-Harbor syndrome ?,What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested.,GARD,Floating-Harbor syndrome +What are the treatments for Floating-Harbor syndrome ?,"How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. Additional management strategies may be obtained from the Floating Harbor Syndrome Support Group at: http://www.floatingharborsyndromesupport.com/ or 336-492-2641.",GARD,Floating-Harbor syndrome +What is (are) Autosomal recessive hyper IgE syndrome ?,"Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.",GARD,Autosomal recessive hyper IgE syndrome +What are the symptoms of Autosomal recessive hyper IgE syndrome ?,"What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive hyper IgE syndrome +What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?,"What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Severe achondroplasia with developmental delay and acanthosis nigricans +What is (are) Calciphylaxis ?,"Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure. These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.",GARD,Calciphylaxis +What is (are) Acrodysplasia scoliosis ?,"Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Acrodysplasia scoliosis +What are the symptoms of Acrodysplasia scoliosis ?,"What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Scoliosis 90% Spina bifida occulta 50% Vertebral segmentation defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrodysplasia scoliosis +What is (are) Myxopapillary ependymoma ?,"Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy.",GARD,Myxopapillary ependymoma +What are the treatments for Myxopapillary ependymoma ?,"How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body. The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved.",GARD,Myxopapillary ependymoma +"What are the symptoms of Copper deficiency, familial benign ?","What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acne 50% Deep philtrum 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Wide nasal bridge 50% Abnormal hair quantity 7.5% Abnormality of the femur 7.5% Abnormality of the tibia 7.5% Anemia 7.5% Abnormality of the skeletal system - Curly hair - Early balding - Failure to thrive - Hypocupremia - Seborrheic dermatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Copper deficiency, familial benign" +What is (are) Frank Ter Haar syndrome ?,"Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.",GARD,Frank Ter Haar syndrome +What are the symptoms of Frank Ter Haar syndrome ?,"What are the signs and symptoms of Frank Ter Haar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frank Ter Haar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Motor delay 5% Abnormality of cardiovascular system morphology - Anterior concavity of thoracic vertebrae - Bowing of the long bones - Broad clavicles - Broad nasal tip - Buphthalmos - Coarse facial features - Cortical irregularity - Delayed cranial suture closure - Dental malocclusion - Flared metaphysis - Flat occiput - Full cheeks - Gingival overgrowth - Growth delay - High palate - Hip dysplasia - Hypertelorism - Large eyes - Low-set ears - Osteopenia - Osteoporosis - Pectus excavatum - Prominent coccyx - Prominent forehead - Proptosis - Protruding ear - Short long bone - Short phalanx of finger - Talipes equinovarus - Wide anterior fontanel - Wide mouth - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frank Ter Haar syndrome +What is (are) Isovaleric acidemia ?,"Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.",GARD,Isovaleric acidemia +What are the symptoms of Isovaleric acidemia ?,"What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isovaleric acidemia +What causes Isovaleric acidemia ?,"What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.",GARD,Isovaleric acidemia +Is Isovaleric acidemia inherited ?,"How is isovaleric acidemia inherited? Isovaleric acidemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Isovaleric acidemia +What are the treatments for Isovaleric acidemia ?,"How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.",GARD,Isovaleric acidemia +What are the symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ?,"What are the signs and symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM)? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness with labyrinthine aplasia microtia and microdontia (LAMM). If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cranial nerves 90% Microdontia 90% Abnormality of the nares 50% Long face 50% Pointed chin 50% Wide nasal bridge 50% Abnormal nasal morphology 7.5% Anterior creases of earlobe 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Increased number of teeth 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Synophrys 7.5% Tall stature 7.5% Anteverted ears - Aplasia of the inner ear - Autosomal recessive inheritance - Conical tooth - Delayed gross motor development - Microtia, first degree - Profound sensorineural hearing impairment - Skin tags - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness with labyrinthine aplasia microtia and microdontia (LAMM) +What is (are) Toxocariasis ?,"Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.",GARD,Toxocariasis +What is (are) Tracheal agenesis ?,"Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.",GARD,Tracheal agenesis +What are the symptoms of Tracheal agenesis ?,"What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Respiratory insufficiency 90% Tracheal stenosis 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tracheal agenesis +What is (are) Cogan-Reese syndrome ?,"Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE.",GARD,Cogan-Reese syndrome +What is (are) Tarsal carpal coalition syndrome ?,"Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Approximately 10 affected families have been described. Tarsal carpal coalition syndrome is caused by mutations in the NOD gene, and it is inherited in an autosomal dominant pattern.",GARD,Tarsal carpal coalition syndrome +What are the symptoms of Tarsal carpal coalition syndrome ?,"What are the signs and symptoms of Tarsal carpal coalition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tarsal carpal coalition syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Short stature 90% Tarsal synostosis 90% Carpal synostosis 75% Proximal symphalangism (hands) 75% Radial deviation of finger 75% Short 1st metacarpal 75% Cubitus valgus 7.5% Distal symphalangism (hands) 7.5% Humeroradial synostosis 7.5% Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Progressive fusion 2nd-5th pip joints - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tarsal carpal coalition syndrome +What is (are) Sclerosing mesenteritis ?,"Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. The most common symptom is abdominal pain or a palpable abdominal mass. Click on the highlighted text to view an illustration of the small intestine.",GARD,Sclerosing mesenteritis +What are the symptoms of Sclerosing mesenteritis ?,"What are the signs and symptoms of sclerosing mesenteritis? Common symptoms of sclerosing mesenteritis include abdominal pain or a palpable abdominal mass, weight loss, abdominal distention, vomiting, diarrhea, constipation, and fever of unknown cause.",GARD,Sclerosing mesenteritis +What are the treatments for Sclerosing mesenteritis ?,"How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent feature but fibrosis is not yet fully developed, medical treatment with corticosteroids, colchicine, immunosuppressants, or orally administered progesterone may be beneficial in the prevention of disease progression. These medications are only given for a short period since they can cause serious side effects. Some studies have shown that patients with sclerosing mesenteritis may benefit from a drug combination of tamoxifen and prednisone. When fibrosis becomes extensive, especially when the disease presents as a large fibrotic mass with bowel obstruction, surgical interventions may be necessary.",GARD,Sclerosing mesenteritis +What are the symptoms of Dehydrated hereditary stomatocytosis ?,"What are the signs and symptoms of Dehydrated hereditary stomatocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Dehydrated hereditary stomatocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cholelithiasis 5% Hemoglobinuria 5% Hepatitis 5% Hepatomegaly 5% Increased serum ferritin 5% Jaundice 5% Pallor 5% Splenomegaly 5% Autosomal dominant inheritance - Exercise-induced hemolysis - Increased red cell hemolysis by shear stress - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dehydrated hereditary stomatocytosis +"What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ?","What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mental retardation-hypotonic facies syndrome X-linked, 1" +What are the symptoms of Normophosphatemic familial tumoral calcinosis ?,"What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal recessive inheritance - Calcinosis - Conjunctivitis - Gingivitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Normophosphatemic familial tumoral calcinosis +What is (are) HAIR-AN syndrome ?,"HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate the ovaries to make too much androgen, leading too excessive hair growth, acne, and irregular periods. Insulin resistance can also lead to diabetes, high blood pressure, heart disease, and excessive growth and darkening of the skin (aconthosis nigricans). Women with HAIR-AN may be born with insulin resistance or acquire it over time.",GARD,HAIR-AN syndrome +What are the symptoms of Epilepsy progressive myoclonic type 3 ?,"What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar atrophy 5% Cerebral atrophy 5% Hypoplasia of the corpus callosum 5% Microcephaly 5% Visual loss 5% Autosomal recessive inheritance - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Generalized myoclonic seizures - Intellectual disability - Progressive - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epilepsy progressive myoclonic type 3 +What are the symptoms of PCDH19-related female-limited epilepsy ?,"What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Absence seizures - Aggressive behavior - Atonic seizures - Focal seizures - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Infantile onset - Psychosis - Status epilepticus - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,PCDH19-related female-limited epilepsy +What is (are) Multiple sclerosis ?,"Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. The symptoms vary widely from person to person, and may include sensory disturbances in the limbs, problems with muscle control, tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness, difficulty walking, poor bladder control, and vision problems. Most patients have periods during which they have symptoms (clinical attacks). The clinical attacks are typically followed by periods without any symptoms (remission). After several years, the symptoms worsen continuously. Multiple sclerosis is considered an autoimmune disorder but the exact cause is unknown. Risk factors for developing multiple sclerosis include genetic factors like changes in the HLA-DRB1 gene and in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The goal of treatment of MS is to decrease attacks and the inflammation within the central nervous system.",GARD,Multiple sclerosis +What are the symptoms of Multiple sclerosis ?,"What are the signs and symptoms of Multiple sclerosis? The peak age of onset is between ages 20 and 40, although it may develop in children and has also been identified in individuals over 60 years of age. The most common signs and symptoms include sensory disturbance of the limbs; partial or complete visual loss; acute and subacute motor dysfunction of the limbs; diplopia (double vision); and gait dysfunction. These signs and symptoms may occur alone or in combination, and have to be present for a minimum of 24 hours to be considered a ""clinical attack."" The signs and symptoms in individuals with MS are extremely variable, even among affected relatives within families. Symptoms vary because the location and severity of each attack can be different. Episodes can last for days, weeks, or months. These episodes alternate with periods of reduced or no symptoms (remissions). While it is common for the disease to return (relapse), the disease may continue to get worse without periods of remission. Because nerves in any part of the brain or spinal cord may be damaged, patients with multiple sclerosis can have symptoms in many parts of the body. Muscle symptoms may include loss of balance, muscle spasms, numbness or abnormal sensation in any area, problems moving arms or legs, problems walking, problems with coordination and making small movements, and tremor or weakness in one or more arms or legs. Bowel and bladder symptoms may include constipation and stool leakage, difficulty beginning to urinate, frequent need or strong urge to urinate, and incontinence. Eye symptoms may include double vision, eye discomfort, uncontrollable rapid eye movements, and vision loss. There may be numbness, tingling, or pain in the face, muscles, arms or legs. Other brain and nerve symptoms may include decreased attention span, poor judgment, and memory loss; difficulty reasoning and solving problems; depression or feelings of sadness; dizziness and balance problems; and hearing loss. Individuals may also have slurred or difficult-to-understand speech, trouble chewing and swallowing, and sexual symptoms such as problems with erections or vaginal lubrication. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) CNS demyelination - Depression - Diplopia - Emotional lability - Incoordination - Multifactorial inheritance - Muscle weakness - Paresthesia - Spasticity - Urinary hesitancy - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple sclerosis +What causes Multiple sclerosis ?,"What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protective nerve covering (myelin), and the breakdown of nerve cells. The most widely accepted theory is that MS begins as an autoimmune disorder, where white blood cells (lymphocytes) attack healthy tissues. Later, signs and symptoms occur as a result of abnormal activity of specific cells in the brain and spinal cord (microglial cells) and progressive injury and loss of brain and spinal cord cells. Additional theories regarding the cause of MS include chronic viral infections and genetic disease. Although many viruses, and particularly the Epstein-Barr virus, have been associated with MS, there is no specific evidence linking viruses directly to the development of MS. Still, Epstein-Barr virus infection is considered a risk factor for the disease. Certain gene changes, including ones in HLA-DRB1 are associated with an increased risk for developing multiple sclerosis. However, it is unclear exactly what role these gene changes play in the development of MS. Having a first-degree relative with MS, like a parent or sibling, does increase a persons risk for the condition (to around 2%). Learn more about gene changes and MS. Vitamin D is another area of interest. Those who are exposed to more sunlight tend to have higher levels of naturally-produced vitamin D, which is thought to support the immune function and may help protect against immune-mediated diseases like MS. Further information on the cause of MS is available at the National Multiple Sclerosis Society Web site.",GARD,Multiple sclerosis +How to diagnose Multiple sclerosis ?,"How is multiple sclerosis diagnosed? Symptoms of multiple sclerosis (MS) may be similar to those of many other nervous system disorders. The disease is made based on the person's signs and symptoms and is typically diagnosed by ruling out other conditions. ""Dissemination in time and space"" are commonly-used criteria for diagnosing the relapsing-remitting form of MS (RR-MS). ""Dissemination in time means"" that there are at least two clinical attacks, each lasting at least 24 hours, separated by at least one month, or a slow, step-wise progressive course for at least six months. ""Dissemination in space"" means that there are lesions in more than one area of the brain or spinal cord. For primary progressive MS (PP-MS), there are currently no diagnostic criteria that are universally accepted. Physicians may do many tests to evaluate an individual suspected of having MS. Neurological Exam: May show reduced nerve function in one area of the body or over many parts of the body. This may include abnormal nerve reflexes, decreased ability to move a part of the body, decreased or abnormal sensation, and other loss of nervous system functions. Eye Exam: May show abnormal pupil responses, changes in the visual fields or eye movements, decreased visual acuity, problems with the inside parts of the eye, and rapid eye movements triggered when the eye moves. Other Tests: Lumbar puncture (spinal tap) for cerebrospinal fluid tests, MRI scan of the brain, MRI scan of the spine; nerve function study; and several of blood tests. The Revised McDonald Criteria, published In 2010 by the International Panel on the Diagnosis of Multiple Sclerosis, include specific guidelines for using MRI, visual evoked potentials (VEP) and cerebrospinal fluid analysis to speed the diagnostic process.",GARD,Multiple sclerosis +What is (are) Neurofibroma ?,"A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.",GARD,Neurofibroma +What are the symptoms of Reardon Wilson Cavanagh syndrome ?,"What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reardon Wilson Cavanagh syndrome +What are the symptoms of Dandy-Walker like malformation with atrioventricular septal defect ?,"What are the signs and symptoms of Dandy-Walker like malformation with atrioventricular septal defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker like malformation with atrioventricular septal defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cognitive impairment 90% Dandy-Walker malformation 90% Frontal bossing 90% Hypertelorism 90% Muscular hypotonia 90% Neurological speech impairment 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the cerebellum 50% Atria septal defect 50% Cleft palate 50% Complete atrioventricular canal defect 50% Depressed nasal bridge 50% Hydrocephalus 50% Hypoplastic left heart 50% Kyphosis 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Prominent occiput 50% Recurrent respiratory infections 50% Scoliosis 50% Short nose 50% Short stature 50% Tetralogy of Fallot 50% Ventricular septal defect 50% Abnormality of neuronal migration 7.5% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ribs 7.5% Abnormality of the upper urinary tract 7.5% Aplasia/Hypoplasia of the nipples 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Displacement of the external urethral meatus 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Primary adrenal insufficiency 7.5% Short neck 7.5% Single umbilical artery 7.5% Urogenital fistula 7.5% Vertebral segmentation defect 7.5% Adrenal hypoplasia - Anal atresia - Aortic valve stenosis - Autosomal recessive inheritance - Brachycephaly - Coloboma - Double outlet right ventricle - Growth hormone deficiency - Hemivertebrae - High forehead - Hydronephrosis - Hypospadias - Intrauterine growth retardation - Low posterior hairline - Low-set ears - Missing ribs - Posterior fossa cyst - Pulmonic stenosis - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dandy-Walker like malformation with atrioventricular septal defect +What are the symptoms of Optic atrophy 5 ?,"What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Central scotoma - Optic atrophy - Slow decrease in visual acuity - Tritanomaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy 5 +What is (are) HELLP syndrome ?,,GARD,HELLP syndrome +What are the symptoms of HELLP syndrome ?,"What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed. Rarely, they may have bleeding from the gums or other places. Because healthy pregnant women may also have these symptoms late in pregnancy, it may be hard to know for sure if they are attributable to HELLP syndrome. A doctor may order blood tests to determine if these symptoms are the result of HELLP syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for HELLP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Eclampsia - Edema - Elevated hepatic transaminases - Hypertension - Intrauterine growth retardation - Maternal hypertension - Preeclampsia - Proteinuria - Seizures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,HELLP syndrome +What causes HELLP syndrome ?,"What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia. The following risk factors may increase a woman's risk of developing HELLP syndrome: Previous pregnancy with HELLP Syndrome (19-27% chance of recurrence in each pregnancy) Preeclampsia or pregnancy induced hypertension Women over the age of 25 Being caucasian Multiparous (given birth two or more times)",GARD,HELLP syndrome +What is (are) Trismus-pseudocamptodactyly syndrome ?,"Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most serious complications of the condition occur as a result of the limited mobility of the mouth. Treatment may involve surgical correction and physical therapy.",GARD,Trismus-pseudocamptodactyly syndrome +What are the symptoms of Trismus-pseudocamptodactyly syndrome ?,"What are the signs and symptoms of Trismus-pseudocamptodactyly syndrome? While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4 of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists, club foot, metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth. Children with this syndrome may crawl on their knuckles. In adulthood the syndrome may cause reduced hand dexterity, however hand limitation does not often interfere with normal function. The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation. The Human Phenotype Ontology provides the following list of signs and symptoms for Trismus-pseudocamptodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature 90% Limitation of joint mobility 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the hip bone 7.5% Mandibular prognathia 7.5% Ptosis 7.5% Deep philtrum 5% Macrocephaly 5% Autosomal dominant inheritance - Cutaneous syndactyly of toes - Distal arthrogryposis - Dysphagia - Facial asymmetry - Feeding difficulties - Hammertoe - Hip dislocation - Talipes equinovarus - Trismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trismus-pseudocamptodactyly syndrome +What are the treatments for Trismus-pseudocamptodactyly syndrome ?,How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with your healthcare provider to learn more about specific treatment options.,GARD,Trismus-pseudocamptodactyly syndrome +What is (are) Porphyria cutanea tarda ?,"Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience ""photosensitivity,"" which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer. In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT. Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inherited in an autosomal dominant manner. Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease.",GARD,Porphyria cutanea tarda +What are the symptoms of Porphyria cutanea tarda ?,"What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Skin rash 90% Thin skin 90% Atypical scarring of skin 7.5% Cerebral palsy 7.5% Cirrhosis 7.5% Edema 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Alopecia - Autosomal dominant inheritance - Facial hypertrichosis - Fragile skin - Hepatocellular carcinoma - Hyperpigmentation in sun-exposed areas - Onycholysis - Scleroderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Porphyria cutanea tarda +What is (are) Hidradenocarcinoma ?,"Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40). Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly. Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis. It is not known why some hidradenocarcinomas progress rapidly while others remain stable.",GARD,Hidradenocarcinoma +What are the treatments for Hidradenocarcinoma ?,"How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the first step and aims to remove as much of the cancer as possible. Both a traditional surgical technique, known as wide local excision, and the newer Mohs micrographic surgery have been used to remove hidradenocarcinomas. Radiation therapy, performed by a doctor known as radiation oncologist, has been used after surgery in patients with hidradenocarcinoma to destroy any cancer cells that may remain at the original location of the tumor or in the lymph nodes. Chemotherapy, performed by a doctor known as a medical oncologist, has not yet been proven as effective treatment for hidradenocarcinomas.",GARD,Hidradenocarcinoma +What are the symptoms of Olivopontocerebellar atrophy deafness ?,"What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral cortical atrophy 90% Hearing impairment 90% Hyperreflexia 90% Incoordination 90% Ventriculomegaly 90% Aplasia/Hypoplasia of the cerebellum 50% Nystagmus 50% Chorioretinal coloboma 7.5% EEG abnormality 7.5% Hypertonia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Seizures 7.5% Strabismus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Olivopontocerebellar atrophy deafness +What is (are) Homocystinuria ?,"Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.",GARD,Homocystinuria +What is (are) Lafora disease ?,"Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Lafora disease +What are the symptoms of Lafora disease ?,"What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. The most common feature of Lafora disease is recurrent seizures. Several different types of seizures have been reported including generalized tonic-clonic seizures, occipital seizures (which can cause temporary blindness and visual hallucinations) and myoclonic seizures. These seizures are considered ""progressive"" because they generally become worse and more difficult to treat over time. With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care. The Human Phenotype Ontology provides the following list of signs and symptoms for Lafora disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absence seizures - Apraxia - Autosomal recessive inheritance - Bilateral convulsive seizures - Cutaneous photosensitivity - Dementia - Gait disturbance - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hepatic failure - Heterogeneous - Myoclonus - Progressive neurologic deterioration - Psychosis - Rapidly progressive - Visual auras - Visual hallucinations - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lafora disease +What causes Lafora disease ?,"What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease.",GARD,Lafora disease +Is Lafora disease inherited ?,"Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Lafora disease +How to diagnose Lafora disease ?,"How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect ""Lafora bodies"" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis. GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.",GARD,Lafora disease +What are the treatments for Lafora disease ?,"How might Lafora disease be treated? Unfortunately, there is currently no cure for Lafora disease or way to slow the progression of the condition. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to managed generalized seizures. In the advanced stages of the condition, a gastrostomy tube may be placed for feeding. Drugs that are known to worsen myoclonus (i.e. phenytoin) are generally avoided. GeneReview's Web site offers more specific information regarding the treatment and management of Lafora disease. Please click on the link to access this resource.",GARD,Lafora disease +What are the symptoms of Cone-rod dystrophy X-linked 2 ?,"What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cone/cone-rod dystrophy - Progressive cone degeneration - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone-rod dystrophy X-linked 2 +What is (are) Pilocytic astrocytoma ?,"Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.",GARD,Pilocytic astrocytoma +What are the symptoms of Pilocytic astrocytoma ?,"What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.",GARD,Pilocytic astrocytoma +What causes Pilocytic astrocytoma ?,"What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.",GARD,Pilocytic astrocytoma +Is Pilocytic astrocytoma inherited ?,"Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. Although most individuals with a pilocytic astrocytoma do not have an underlying genetic condition, astrocytomas have been associated with a few ""predisposing"" genetic syndromes. Individuals with these syndromes will not necessarily develop one; these tumors just occur with a greater frequency in affected individuals. Genetic syndromes in which astrocytomas have been reported to occur include: neurofibromatosis type 1 Turcot syndrome Li-Fraumeni syndrome tuberous sclerosis All of these genetic conditions follow an autosomal dominant pattern of inheritance. Individuals who are interested in learning about personal genetic risks for these conditions and/or genetic testing options for themselves or family members should speak with a genetics professional.",GARD,Pilocytic astrocytoma +What is (are) Pulmonary alveolar proteinosis acquired ?,"Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly; some individuals may not show symptoms, while others may experience progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, the coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present. Most cases occur for no known reason, but some cases may occur secondary to environmental exposures or underlying diseases; some researchers believe it may be an autoimmune disorder. The treatment varies from case to case depending upon the age of the affected individual and severity of the disease. Acquired PAP differs from congenital PAP, an extremely rare form of PAP that occurs in some newborns.",GARD,Pulmonary alveolar proteinosis acquired +What are the symptoms of Pulmonary alveolar proteinosis acquired ?,"What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cyanosis 25% Alveolar proteinosis - Chest pain - Clubbing - Cough - Dyspnea - Hemoptysis - Hypoxemia - Insidious onset - Pneumonia - Polycythemia - Recurrent respiratory infections - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary alveolar proteinosis acquired +What are the treatments for Pulmonary alveolar proteinosis acquired ?,"How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). The other two-thirds may be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years. In secondary PAP (due to environmental exposure or an underlying disorder), removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms. Inhaled GM-CSF (granulocyte-macrophage colony-stimulating factor), a blood-stimulating medication, has been shown to improve the condition in some individuals with PAP. Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation.",GARD,Pulmonary alveolar proteinosis acquired +What is (are) Q fever ?,"Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.",GARD,Q fever +What is (are) Neonatal hemochromatosis ?,Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4,GARD,Neonatal hemochromatosis +What are the symptoms of Neonatal hemochromatosis ?,"What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Anteverted nares 90% Aplasia/Hypoplasia of the nipples 90% Blepharophimosis 90% Congenital hepatic fibrosis 90% Hypoglycemia 90% Abnormal bleeding - Autosomal recessive inheritance - Cholestasis - Cirrhosis - Congenital onset - Hepatic failure - Hepatic fibrosis - Hepatocellular necrosis - Increased serum ferritin - Increased serum iron - Intrauterine growth retardation - Nonimmune hydrops fetalis - Oligohydramnios - Prolonged neonatal jaundice - Rapidly progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neonatal hemochromatosis +What is (are) Dihydropyrimidine dehydrogenase deficiency ?,"Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.",GARD,Dihydropyrimidine dehydrogenase deficiency +What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ?,"What are the signs and symptoms of Dihydropyrimidine dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidine dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum 5% Autism - Autosomal recessive inheritance - Cerebral atrophy - Coloboma - Delayed speech and language development - Failure to thrive - Growth delay - Hyperactivity - Hypertonia - Intellectual disability - Lethargy - Microcephaly - Microphthalmia - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Phenotypic variability - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dihydropyrimidine dehydrogenase deficiency +What causes Dihydropyrimidine dehydrogenase deficiency ?,"What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are building blocks of DNA, RNA, and molecules that serve as energy sources in cells. Mutations in the DPYD gene result in deficiencies (to various degrees) of functional DPD, interfering with the breakdown of uracil and thymine in cells. This results in excessive amounts of uracil and thymine in the blood, urine, and the fluid that surrounds the brain and spinal cord. It is currently poorly understood exactly how this cascade of events causes the signs and symptoms of the condition.",GARD,Dihydropyrimidine dehydrogenase deficiency +Is Dihydropyrimidine dehydrogenase deficiency inherited ?,"How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD deficiency vary widely in severity; therefore, some people with 2 mutated copies of the gene may have signs and symptoms of the condition, while others may be asymptomatic. However, all individuals with 2 mutations are at risk for toxic reactions to fluoropyrimidine drugs. Individuals who carry one mutated copy of the disease-causing gene (including most parents of affected individuals) are referred to as carriers. Carriers typically do not have signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene may still experience toxic reactions to fluoropyrimidine drugs. When 2 carriers for the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. A child of one carrier parent has a 50% risk to also be a carrier.",GARD,Dihydropyrimidine dehydrogenase deficiency +How to diagnose Dihydropyrimidine dehydrogenase deficiency ?,"How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.",GARD,Dihydropyrimidine dehydrogenase deficiency +What are the treatments for Dihydropyrimidine dehydrogenase deficiency ?,"How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life.",GARD,Dihydropyrimidine dehydrogenase deficiency +"What are the symptoms of Bile acid synthesis defect, congenital, 4 ?","What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the coagulation cascade - Autosomal recessive inheritance - Elevated hepatic transaminases - Failure to thrive - Fat malabsorption - Giant cell hepatitis - Hepatic failure - Hepatomegaly - Hyperbilirubinemia - Intrahepatic cholestasis - Neonatal onset - Prolonged neonatal jaundice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Bile acid synthesis defect, congenital, 4" +What is (are) Osteopetrosis autosomal dominant type 2 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal dominant type 2 +What are the symptoms of Osteopetrosis autosomal dominant type 2 ?,"What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal dominant type 2 +What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ?,"What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Hearing impairment 50% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Sensorineural hearing impairment 5% Elevated serum creatine phosphokinase - Intellectual disability - Motor axonal neuropathy - Sensory neuropathy - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked Charcot-Marie-Tooth disease type 4 +What is (are) Choroideremia ?,"Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.",GARD,Choroideremia +What are the symptoms of Choroideremia ?,"What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Myopia 90% Nyctalopia 90% Visual impairment 90% Chorioretinal atrophy - Chorioretinal degeneration - Choroideremia - Constriction of peripheral visual field - Progressive visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Choroideremia +What are the symptoms of Achard syndrome ?,"What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achard syndrome +What is (are) Geroderma osteodysplastica ?,"Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.",GARD,Geroderma osteodysplastica +What are the symptoms of Geroderma osteodysplastica ?,"What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Geroderma osteodysplastica +What is (are) Juvenile Huntington disease ?,"Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of HD cases. It is inherited in an autosomal dominant pattern and is caused by a mutation called a trinucleotide repeat in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life.",GARD,Juvenile Huntington disease +What are the symptoms of Juvenile Huntington disease ?,"What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile Huntington disease +What causes Juvenile Huntington disease ?,"What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin protein is abnormally made, it is thought to lead to the death of neurons in certain areas of the brain, which causes the signs and symptoms of Juvenile HD. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with juvenile HD, the CAG segment is repeated more than 60 times.",GARD,Juvenile Huntington disease +Is Juvenile Huntington disease inherited ?,"How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.",GARD,Juvenile Huntington disease +How to diagnose Juvenile Huntington disease ?,"How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autosomal dominant inheritance in a family. Usually a clinical exam is also performed where the persons hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status are examined. People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness. Genetic testing is usually done to confirm a diagnosis of juvenile HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region. GeneTests lists the names of laboratories that are performing genetic testing for Juvenile HD. To view the contact information for the clinical laboratories, conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Juvenile Huntington disease +What are the treatments for Juvenile Huntington disease ?,"How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with Juvenile HD. Tetrabenazine is often used to treat chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may also help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other drugs. Tranquilizers can help control anxiety and lithium may be prescribed to combat severe mood swings.",GARD,Juvenile Huntington disease +What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ?,"What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) IgA deficiency - IgG deficiency - Immunodeficiency - Impaired memory B-cell generation - Increased IgM level - Recurrent mycobacterium avium complex infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immunodeficiency without anhidrotic ectodermal dysplasia +What is (are) Chromosome 7q deletion ?,"Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 7q deletion +What is (are) Spina bifida occulta ?,"Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.",GARD,Spina bifida occulta +What are the symptoms of Spina bifida occulta ?,"What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly - Asymmetry of spinal facet joints - Autosomal dominant inheritance - Hydrocephalus - Multiple lipomas - Myelomeningocele - Spina bifida occulta - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spina bifida occulta +What is (are) Abdominal aortic aneurysm ?,"Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered ""familial abdominal aortic aneurysm."" Treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm.",GARD,Abdominal aortic aneurysm +What are the symptoms of Abdominal aortic aneurysm ?,"What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal aortic aneurysm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Abdominal aortic aneurysm +Is Abdominal aortic aneurysm inherited ?,"Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. Having a family history of AAA increases the risk of developing the condition. A genetic predisposition has been suspected since the first report of three brothers who had a ruptured AAA, and additional families with multiple affected relatives have been reported. In some cases, it may be referred to as "" familial abdominal aortic aneurysm."" A Swedish survey reported that the relative risk of developing AAA for a first-degree relative of a person with AAA was approximately double that of a person with no family history of AAA. In another study, having a family history increased the risk of having an aneurysm 4.3-fold. The highest risk was among brothers older than age 60, in whom the prevalence was 18%. While specific variations in DNA (polymorphisms) are known or suspected to increase the risk for AAA, no one gene is known to cause isolated AAA. It can occur with some inherited disorders that are caused by mutations in a single gene, such as Marfan syndrome and Ehlers-Danlos syndrome, vascular type. However, these more typically involve the thoracoabdominal aorta. Because the inheritance of AAA is complex, it is not possible to predict whether a specific person will develop AAA. People interested in learning more about the genetics of AAA, and how their family history affects risks to specific family members, should speak with a genetics professional.",GARD,Abdominal aortic aneurysm +"What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ?","What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the thumb 90% Irregular hyperpigmentation 90% Short stature 90% Abnormality of dental morphology 50% Abnormality of the fingernails 50% Abnormality of the pinna 50% Camptodactyly of finger 50% Cognitive impairment 50% Hypopigmented skin patches 50% Neurological speech impairment 50% Palmoplantar keratoderma 50% Triphalangeal thumb 50% Urticaria 50% Finger syndactyly 7.5% Alopecia - Autosomal dominant inheritance - Increased groin pigmentation with raindrop depigmentation - Intellectual disability - Short thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Thumb deformity, alopecia, pigmentation anomaly" +What is (are) Multiple endocrine neoplasia type 2A ?,"Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland). Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease. The condition is inherited in an autosomal dominant manner.",GARD,Multiple endocrine neoplasia type 2A +What are the symptoms of Multiple endocrine neoplasia type 2A ?,"What are the signs and symptoms of Multiple endocrine neoplasia type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the integument - Aganglionic megacolon - Autosomal dominant inheritance - Elevated calcitonin - Elevated urinary epinephrine - Hypercortisolism - Hyperparathyroidism - Hypertension - Medullary thyroid carcinoma - Parathyroid adenoma - Pheochromocytoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple endocrine neoplasia type 2A +Is Multiple endocrine neoplasia type 2A inherited ?,How is multiple endocrine neoplasia type 2A inherited? Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition.,GARD,Multiple endocrine neoplasia type 2A +What is (are) Cardiofaciocutaneous syndrome ?,"Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three syndromes are part of a group of related conditions called the RASopathies and they are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. The CFC syndroeme is caused by mutations in the BRAF (75%-80% of the cases), MAP2K1, MAP2K2 or KRAS gene (in fewer than 5% of the cases). CFC syndrome is an autosomal dominant condition, however, most cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. Treatment is symptomatic and may include surgery to correct the heart problems.",GARD,Cardiofaciocutaneous syndrome +What are the symptoms of Cardiofaciocutaneous syndrome ?,"What are the signs and symptoms of Cardiofaciocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiofaciocutaneous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heart valves 90% Abnormality of the pulmonary artery 90% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Atria septal defect 90% Coarse facial features 90% Cognitive impairment 90% Dry skin 90% Fine hair 90% Full cheeks 90% Hypertrichosis 90% Long face 90% Long palpebral fissure 90% Muscular hypotonia 90% Neurological speech impairment 90% Palmoplantar keratoderma 90% Short stature 90% Thickened helices 90% Underdeveloped supraorbital ridges 90% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Cafe-au-lait spot 50% Cryptorchidism 50% Deep palmar crease 50% Depressed nasal bridge 50% EEG abnormality 50% Epicanthus 50% Frontal bossing 50% Generalized hyperpigmentation 50% High forehead 50% Hyperextensible skin 50% Hypertelorism 50% Hypoplasia of the zygomatic bone 50% Ichthyosis 50% Long philtrum 50% Low posterior hairline 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Macrotia 50% Myopia 50% Narrow forehead 50% Nystagmus 50% Pectus excavatum 50% Premature birth 50% Ptosis 50% Scoliosis 50% Short neck 50% Short nose 50% Slow-growing hair 50% Strabismus 50% Webbed neck 50% Abnormality of the abdominal organs 7.5% Abnormality of the upper urinary tract 7.5% Cerebral cortical atrophy 7.5% Cleft palate 7.5% Cubitus valgus 7.5% Cutis laxa 7.5% Genu valgum 7.5% Hydrocephalus 7.5% Hypertrophic cardiomyopathy 7.5% Lymphedema 7.5% Optic atrophy 7.5% Peripheral axonal neuropathy 5% Absent eyebrow - Absent eyelashes - Anterior creases of earlobe - Aplasia/Hypoplasia of the corpus callosum - Atopic dermatitis - Autosomal dominant inheritance - Bulbous nose - Cavernous hemangioma - Clinodactyly of the 5th finger - Congenital onset - Constipation - Curly hair - Deep philtrum - Delayed skeletal maturation - Dental malocclusion - Dolichocephaly - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Hearing impairment - High palate - Hydronephrosis - Hyperextensibility of the finger joints - Hyperkeratosis - Hypertonia - Hypoplasia of the frontal lobes - Intellectual disability - Low-set ears - Multiple lentigines - Multiple palmar creases - Multiple plantar creases - Oculomotor apraxia - Open bite - Open mouth - Optic nerve dysplasia - Osteopenia - Pectus carinatum - Polyhydramnios - Posteriorly rotated ears - Progressive visual loss - Prominent forehead - Proptosis - Pulmonic stenosis - Relative macrocephaly - Seizures - Sparse hair - Splenomegaly - Submucous cleft hard palate - Tongue thrusting - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cardiofaciocutaneous syndrome +What are the treatments for Cardiofaciocutaneous syndrome ?,"How might the the itching associated with cardiofaciocutaneous syndrome be treated? Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. If signs of infection develop, treatment with antibiotics may be necessary.",GARD,Cardiofaciocutaneous syndrome +What is (are) Lupus nephritis ?,"Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people aged 20 to 40 years. Treatment may involve medications to suppress the immune system, dialysis, or a kidney transplant. Visit our Web page on lupus for more information and resources.",GARD,Lupus nephritis +What are the symptoms of Glomus tympanicum tumor ?,"What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glomus tympanicum tumor +What are the symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate ?,"What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth - Autosomal dominant inheritance - Ectodermal dysplasia - Hypotrichosis - Split foot - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectrodactyly and ectodermal dysplasia without cleft lip/palate +What is (are) Polycystic liver disease ?,"Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.",GARD,Polycystic liver disease +What are the symptoms of Polycystic liver disease ?,"What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 90% Polycystic kidney dysplasia 50% Abdominal pain 7.5% Abnormality of the pancreas 7.5% Aneurysm 7.5% Elevated alkaline phosphatase 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Respiratory insufficiency 7.5% Abdominal distention - Abnormality of the cardiovascular system - Abnormality of the nervous system - Ascites - Autosomal dominant inheritance - Back pain - Increased total bilirubin - Polycystic liver disease - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polycystic liver disease +What is (are) Acquired hemophilia A ?,"Acquired hemophilia A is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia A occurs when the body's immune system attacks and disables a certain protein that helps the blood clot (called coagulation factor VIII). About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications. Treatment is aimed at controlling bleeding episodes and addressing the underlying cause of the condition.",GARD,Acquired hemophilia A +What is (are) Carcinoid syndrome ?,"Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. In later stages, carcinoid syndrome may damage the heart valves, resulting in symptoms of congestive heart failure. The condition occurs when the carcinoid tumor secretes serotonin or other chemicals into the bloodstream. Only 10% of people with carcinoid tumors develop carcinoid syndrome; most have advanced stage carcinoid tumors that have spread to the liver. Treatment generally involves addressing the underlying carcinoid tumor and medications to alleviate symptoms.",GARD,Carcinoid syndrome +What are the symptoms of Laurence Prosser Rocker syndrome ?,"What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laurence Prosser Rocker syndrome +What is (are) Mondini dysplasia ?,"Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss. The condition can also predispose affected individuals to recurrent meningitis. It is caused by disruption in the embryonic development of the inner ear during the seventh week of gestation. The condition may be isolated (occurring with no other conditions or malformations) or may occur with other ear malformations or a number of syndromes. Treatment options may include surgical repair of the defect to prevent recurrent meningitis; amplification aids for those with residual hearing; and cochlear implantation.",GARD,Mondini dysplasia +What are the symptoms of Mondini dysplasia ?,"What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. There have also been reports of affected individuals having normal hearing. Mondini dysplasia can also predispose to recurrent meningitis because the defect can act as a ""port of entry"" to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF). Sometimes, individuals are not diagnosed before several episodes of recurrent meningitis occur. The condition may occur with other abnormalities of the ear or other organs, or it may be isolated. The severity of the physical abnormality does not appear to correlate with the severity of the signs and symptoms in affected individuals.",GARD,Mondini dysplasia +What causes Mondini dysplasia ?,"What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities). The potential role of these factors has created increased difficulty in determining the real cause of isolated MD. Mutations in the SLC26A4 gene cause both Pendred syndrome and DFNB4 (non-syndromic hearing loss with inner ear abnormalities), which are both associated with MD. Though mutations in the SLC26A4 gene have also been found in individuals with enlarged vestibular aqueduct (EVA) with and without MD, studies have shown there does not appear to be a relationship between isolated MD and the SLC26A4 gene. Thus hearing impairment in individuals with isolated MD may be caused by factors other than mutations in the SLC26A4 gene. More recently, a type of mutation called a microdeletion (a tiny loss of genetic material on a chromosome that may span several genes) involving the POU3F4 gene on the X chromosome was detected in some individuals with familial MD. In cases where Mondini dysplasia is associated with a specific syndrome, the cause of the syndrome in the affected individual is assumed to be related to the occurrence of MD in those cases. Syndromes that have been associated with MD include Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, and some chromosomal trisomies.",GARD,Mondini dysplasia +Is Mondini dysplasia inherited ?,"Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndrome, Fountain syndrome, Johanson-Blizzard syndrome, and some chromosomal trisomies. These syndromes can be inherited in a variety of ways, but Mondini dysplasia may not occur in each affected individual. It has also has been reported in families with congenital sensorineural hearing loss, both with autosomal dominant and presumed autosomal recessive inheritance. One study described familial nonsyndromic Mondini dysplasia in a mother, son and daughter with presumed autosomal dominant inheritance; another study described familial nonsyndromic Mondini dysplasia in a family in which transmission was most consistent with autosomal recessive inheritance. It has also been suggested that Mondini dysplasia may be associated with substances that may harm a developing fetus when a pregnant woman is exposed (teratogens) such as thalidomide or rubella. Being that Mondini dysplasia has been associated with a variety of conditions, inheritance patterns, and both genetic and non-genetic causes, it appears to be inherited in some cases, with the inheritance pattern being dependent upon the underlying cause of the condition in each individual or family.",GARD,Mondini dysplasia +How to diagnose Mondini dysplasia ?,"Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. Unfortunately, for many cases of isolated Mondini dysplasia, there is no clinical genetic testing available. GeneTests lists the names of laboratories that are performing genetic testing for many conditions that may be associated with Mondini dysplasia. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Mondini dysplasia +What are the treatments for Mondini dysplasia ?,"How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacteria in affected individuals. If an individual has residual hearing, hearing amplification aids may be useful. The use of cochlear implants to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Various results of cochlear implantation in individuals with Mondini dysplasia have been reported in the literature.",GARD,Mondini dysplasia +What are the symptoms of Yorifuji Okuno syndrome ?,"What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary atresia 5% Congenital diaphragmatic hernia 5% Inguinal hernia 5% Intestinal malrotation 5% Microcephaly 5% Microcolon 5% Seizures 5% Single umbilical artery 5% Umbilical hernia 5% Ureteral duplication 5% Autosomal dominant inheritance - Diabetes mellitus - Failure to thrive - Glycosuria - Hyperglycemia - Interrupted aortic arch - Intrauterine growth retardation - Pancreatic hypoplasia - Patent ductus arteriosus - Patent foramen ovale - Perimembranous ventricular septal defect - Pulmonic stenosis - Tetralogy of Fallot - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Yorifuji Okuno syndrome +What is (are) 15q13.3 microdeletion syndrome ?,"15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, learning difficulties, or normal intelligence; autism; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes; the features of the syndrome are caused by the absence of these genes, which are usually necessary for normal growth and development. It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion. Treatment typically focuses on individual signs and symptoms (such as medication for seizures) when possible.",GARD,15q13.3 microdeletion syndrome +What are the symptoms of 15q13.3 microdeletion syndrome ?,"What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 50% Cognitive impairment 50% Incomplete penetrance 50% Abnormal nasal morphology 7.5% Abnormality of the pinna 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Frontal bossing 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Melanocytic nevus 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Seizures 7.5% Short stature 7.5% Strabismus 7.5% Behavioral abnormality 10/19 Muscular hypotonia 9/18 Abnormality of the palpebral fissures 7/19 Intellectual disability, moderate 6/17 Abnormality of the pinna 6/19 Intellectual disability, mild 5/17 Specific learning disability 7/25 Clinodactyly of the 5th finger 4/19 Intellectual disability, severe 3/18 Abnormality of cardiovascular system morphology 3/19 Brachydactyly syndrome 3/19 Hypertelorism 3/19 Strabismus 3/19 Synophrys 3/19 Seizures 2/18 Autosomal dominant inheritance - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,15q13.3 microdeletion syndrome +How to diagnose 15q13.3 microdeletion syndrome ?,"Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you.",GARD,15q13.3 microdeletion syndrome +What is (are) Dermatomyositis ?,"Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. Dermatomyositis may occur at any age, but is most common in adults in their late 40s to early 60s, or children between 5 and 15 years of age. There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The cause of dermatomyositis is unknown.",GARD,Dermatomyositis +What are the symptoms of Dermatomyositis ?,"What are the signs and symptoms of Dermatomyositis? The signs and symptoms of dermatomyositis may appear suddenly or develop gradually, over weeks or months. The cardinal symptom of dermatomyositis is a skin rash that precedes or accompanies progressive muscle weakness. The rash looks patchy, with bluish-purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, heels, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss or a low-grade fever, have inflamed lungs, and be sensitive to light. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs 1-3 years after the disease begins. These deposits are seen more often in children with dermatomyositis than in adults. In some cases of dermatomyositis, distal muscles (muscles located away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Dermatomyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermatomyositis +What causes Dermatomyositis ?,"What causes dermatomyositis? The cause of this disorder is unknown. It is theorized that an autoimmune reaction (reactions caused by an immune response against the body's own tissues) or a viral infection of the skeletal muscle may cause the disease. In addition, some doctors think certain people may have a genetic susceptibility to the disease.",GARD,Dermatomyositis +What are the treatments for Dermatomyositis ?,"How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.",GARD,Dermatomyositis +What is (are) Ebstein's anomaly ?,"Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery.",GARD,Ebstein's anomaly +What are the symptoms of Ebstein's anomaly ?,"What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tricuspid valve 90% Atria septal defect 90% Premature birth 90% Respiratory insufficiency 90% Chest pain 50% Patent ductus arteriosus 50% Abnormality of the endocardium 7.5% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Ebstein's anomaly of the tricuspid valve - Right bundle branch block - Ventricular preexcitation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ebstein's anomaly +What are the symptoms of Van Regemorter Pierquin Vamos syndrome ?,"What are the signs and symptoms of Van Regemorter Pierquin Vamos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Regemorter Pierquin Vamos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Broad forehead 90% Hypertelorism 90% Short distal phalanx of finger 90% Short philtrum 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Abnormality of the neck 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anomalous pulmonary venous return 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Downturned corners of mouth 50% Finger syndactyly 50% Hydrocephalus 50% Hypoplasia of penis 50% Impaired pain sensation 50% Muscular hypotonia 50% Narrow mouth 50% Optic atrophy 50% Patent ductus arteriosus 50% Polyhydramnios 50% Premature birth 50% Renal hypoplasia/aplasia 50% Wormian bones 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Van Regemorter Pierquin Vamos syndrome +What are the symptoms of Pyruvate decarboxylase deficiency ?,"What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 35% Abnormality of eye movement - Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Frontal bossing - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Long philtrum - Microcephaly - Muscular hypotonia - Phenotypic variability - Ptosis - Seizures - Severe lactic acidosis - Small for gestational age - Ventriculomegaly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyruvate decarboxylase deficiency +What are the symptoms of Congenital torticollis ?,"What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital torticollis +What are the symptoms of Hodgkin lymphoma ?,"What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Lymphadenopathy 90% Lymphoma 90% Abnormality of temperature regulation 50% Anorexia 50% Chest pain 50% Hyperhidrosis 50% Pruritus 50% Weight loss 50% Bone marrow hypocellularity 7.5% Bone pain 7.5% Hemoptysis 7.5% Hepatomegaly 7.5% Incoordination 7.5% Migraine 7.5% Peripheral neuropathy 7.5% Respiratory insufficiency 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Hodgkin lymphoma - Impaired lymphocyte transformation with phytohemagglutinin - Polyclonal elevation of IgM - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hodgkin lymphoma +"What is (are) Polyglucosan body disease, adult ?","Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment.",GARD,"Polyglucosan body disease, adult" +"What are the symptoms of Polyglucosan body disease, adult ?","What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Polyglucosan body disease, adult" +What is (are) Intervertebral disc disease ?,"Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. Both environmental and genetic factors are thought to predispose an individual to developing the condition. Treatment for IDD may include physical therapy, pain medications, and sometimes surgical intervention such as discectomy or spinal fusion.",GARD,Intervertebral disc disease +What causes Intervertebral disc disease ?,"What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. Factors such as occupational stress, trauma, or obesity, together with genetic alterations, may result in the structural weakness of a disc, cause a herniation, and possibly initiate a cascade of events leading to sciatica and pathological disc changes. One of the best-known environmental risk factors for IDD is vibration in occupational driving. Inflammation is also likely to play an important role in the progression of this process.",GARD,Intervertebral disc disease +What are the treatments for Intervertebral disc disease ?,"How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. In cases where surgical intervention is necessary, surgical procedures may include discectomy or spinal fusion.",GARD,Intervertebral disc disease +What are the symptoms of Brachyolmia ?,"What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Platyspondyly 90% Short stature 90% Short thorax 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachyolmia +What is (are) Fowler's syndrome ?,Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.,GARD,Fowler's syndrome +What are the symptoms of Fowler's syndrome ?,"What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the following list of signs and symptoms for Fowler's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 90% Acne 90% Hypertrichosis 90% Polycystic ovaries 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fowler's syndrome +What causes Fowler's syndrome ?,"What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a hormonal abnormality may also explain why it primarily affects premenopausal women.",GARD,Fowler's syndrome +How to diagnose Fowler's syndrome ?,"How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation).",GARD,Fowler's syndrome +What are the treatments for Fowler's syndrome ?,"How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromodulation therapy involves the stimulation of nerves to the bladder leaving the spine. The FDA has approved a device called InterStim for this purpose. Your doctor will need to test to determine if this device would be helpful to you. The doctor applies an external stimulator to determine if neuromodulation works in you. If you have a 50 percent reduction in symptoms, a surgeon will implant the device. Although neuromodulation can be effective, it is not for everyone. The therapy is expensive, involving surgery with possible surgical revisions and replacement. Other treatments that have been tried with little success include hormonal manipulation, pharmacologic therapy, and injections of botulinum toxin.",GARD,Fowler's syndrome +What is (are) Catamenial pneumothorax ?,"Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery.",GARD,Catamenial pneumothorax +What are the symptoms of Catamenial pneumothorax ?,"What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased fertility - Dysmenorrhea - Endometriosis - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Catamenial pneumothorax +What causes Catamenial pneumothorax ?,"What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women who are about 34 years old. Thoracic endometriosis can be found in most cases of catamenial pneumothorax. Pneumothorax associated with endometriosis may also occur without being related with menstruation (non-catamenial pneumothorax) even in cases with no symptoms or without diagnosis of pelvic endometriosis.",GARD,Catamenial pneumothorax +How to diagnose Catamenial pneumothorax ?,How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis.,GARD,Catamenial pneumothorax +What are the treatments for Catamenial pneumothorax ?,"How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura). Hormonal treatment with surgery prevents the repeat of catamenial and/or endometriosis-related pneumothorax. Gonadotrophin-releasing hormone (GnRH) for 6 to 12 months after the surgery is also often recommended.",GARD,Catamenial pneumothorax +"What are the symptoms of Paget disease of bone, familial ?","What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Autosomal dominant inheritance - Bone pain - Elevated alkaline phosphatase - Fractures of the long bones - Osteosarcoma - Patchy osteosclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Paget disease of bone, familial" +What are the symptoms of Brachydactyly type A5 ?,"What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Proximal placement of thumb 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Finger syndactyly 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type A5 +What is (are) Hereditary cerebral hemorrhage with amyloidosis ?,"Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins). Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients. The majority of CAA cases occur in individuals who do not have a family history. However, two familial forms of CAA have been identified.",GARD,Hereditary cerebral hemorrhage with amyloidosis +What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ?,"What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs between the ages of 45 and 65 years, and is not caused by hypertension or hemorrhagic diathesis (bleeding tendency). Nausea, vomiting, progressive headache, focal neurological signs (double or decreased vision, speech difficulties, confusion, delirium, weakness or paralysis, sensation changes or loss of sensation, progressive intellectual deterioration and memory disturbance) and impairment of consciousness are the most frequent signs and symptoms. Psychiatric abnormalities, including dementia are also common, with some patients developing dementia without intracranial hemorrhage.",GARD,Hereditary cerebral hemorrhage with amyloidosis +What causes Hereditary cerebral hemorrhage with amyloidosis ?,What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptoms occur because bleeding in the brain harms brain tissue. Hereditary cerebral hemorrhage with amyloidosis-Dutch type is an autosomal dominant disorder with complete penetrance (all individuals who inherit the mutated gene will develop the condition). The likely genetic defect is in the amyloid protein precursor protein (APP) gene on chromosome 21.,GARD,Hereditary cerebral hemorrhage with amyloidosis +Is Hereditary cerebral hemorrhage with amyloidosis inherited ?,"Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here.",GARD,Hereditary cerebral hemorrhage with amyloidosis +What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?,"How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.",GARD,Hereditary cerebral hemorrhage with amyloidosis +What is (are) Diffuse idiopathic skeletal hyperostosis ?,"Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. The exact underlying cause of DISH remains unknown, although risk factors such as age, gender, long-term use of certain medications and chronic health conditions have been identified. Treatment for DISH depends on many factors including the signs and symptoms present in each person and the severity of the condition.",GARD,Diffuse idiopathic skeletal hyperostosis +What are the symptoms of Diffuse idiopathic skeletal hyperostosis ?,"What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied to the affected area Loss of range of motion Difficulty swallowing or a hoarse voice Tingling, numbness, and/or weakness in the legs The upper portion of the back (thoracic spine) is the most commonly affected site; however, people with DISH may also experience symptoms in other places such as the heels, ankles, knees, hips, shoulders, elbows, and/or hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse idiopathic skeletal hyperostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse idiopathic skeletal hyperostosis +What causes Diffuse idiopathic skeletal hyperostosis ?,"What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. Long-term use of medications called retinoids (such as isotretinoin) can increase the risk for DISH. Age (being older than age 50) and sex (being male) may also play a role.",GARD,Diffuse idiopathic skeletal hyperostosis +How to diagnose Diffuse idiopathic skeletal hyperostosis ?,"How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features.",GARD,Diffuse idiopathic skeletal hyperostosis +What are the treatments for Diffuse idiopathic skeletal hyperostosis ?,"How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Affected people with severe pain may be treated with corticosteroid injections. Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints. In rare cases, surgery may be necessary if severe complications develop. For example, people who experience difficulty swallowing may need surgery to remove the bone spurs in the neck. How might severe diffuse idiopathic skeletal hyperostosis (DISH) be treated? Although diffuse idiopathic skeletal hyperostosis (DISH) affects 25% of men and 15% of women over the age of 50 years old, many affected people do not have symptoms. However some people with DISH have stiffness and pain, most commonly in the spinal region or back. In rare cases the joint stiffness and pain is severe and the areas of the spine affected by DISH may have very limited movement. Knees, hips, hands and other joints may also be affected, more commonly in the more severe cases. Therapy for DISH is based on symptoms. In general, physical therapy, analgesics, sedation, anti-inflammatory drugs, and muscle relaxants have all been successful in managing the majority of patients with DISH. Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for patients with severe symptoms (such as airway obstruction and/or dysphagia) in whom conservative approach has failed.",GARD,Diffuse idiopathic skeletal hyperostosis +What is (are) Nuclear Gene-Encoded Leigh Syndrome ?,"Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present.",GARD,Nuclear Gene-Encoded Leigh Syndrome +What are the symptoms of Metaphyseal chondrodysplasia Spahr type ?,"What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu varum 90% Hyperlordosis 90% Reduced bone mineral density 90% Short stature 90% Abnormality of epiphysis morphology 50% Carious teeth 50% Scoliosis 50% Abnormality of the head - Autosomal recessive inheritance - Disproportionate short stature - Genu valgum - Metaphyseal chondrodysplasia - Metaphyseal sclerosis - Metaphyseal widening - Motor delay - Progressive leg bowing - Short lower limbs - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metaphyseal chondrodysplasia Spahr type +What are the symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia ?,"What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Multicystic kidney dysplasia 90% Abnormality of the liver 50% Abnormality of the pancreas 50% Aplasia/Hypoplasia of the lungs 50% Intestinal malrotation 50% Oligohydramnios 50% Polyhydramnios 50% Bile duct proliferation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia +What is (are) Cor triatriatum ?,"Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra chamber above the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum). The presence of this extra atrial chamber can cause slowed passage of the blood from the lungs to the heart and, over time, lead to features of congestive heart failure and obstruction. In children, cor triatriatum may be associated with major congenital cardiac problems. In adults, it is often an isolated finding. Treatment depends upon the symptoms present and may include medical or surgical approaches.",GARD,Cor triatriatum +What is (are) Chondrocalcinosis 2 ?,"Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic.",GARD,Chondrocalcinosis 2 +What are the symptoms of Chondrocalcinosis 2 ?,"What are the signs and symptoms of Chondrocalcinosis 2? The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the back if calcium deposits develop around the bones of the spine. Chondrocalcinosis 2 can also be associated with sudden, recurrent episodes of joint pain, stiffness and/or swelling that can last anywhere from several hours to several weeks. These episodes can lead to limited range of motion in the affected joint or even ankylosis (fixation of joint in place). Although almost any joint in the body can be affected, symptoms are often confined to a single knee, wrist, hip or shoulder. The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the intervertebral disk 90% Arthralgia 90% Calcification of cartilage 90% Joint swelling 90% Osteoarthritis 50% Abnormal tendon morphology 7.5% Chondrocalcinosis 7.5% Joint dislocation 7.5% Limitation of joint mobility 7.5% Seizures 7.5% Adult onset - Arthropathy - Autosomal dominant inheritance - Polyarticular chondrocalcinosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chondrocalcinosis 2 +What causes Chondrocalcinosis 2 ?,What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to accumulate in the cartilage of joints. The buildup of these crystals weakens cartilage and causes it to break down more easily. This leads to the many signs and symptoms associated with chondrocalcinosis 2.,GARD,Chondrocalcinosis 2 +Is Chondrocalcinosis 2 inherited ?,"Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with chondrocalcinosis 2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Chondrocalcinosis 2 +How to diagnose Chondrocalcinosis 2 ?,"How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. In most cases, x-rays can be used to identify calcium deposits in the cartilage of joints.",GARD,Chondrocalcinosis 2 +What are the treatments for Chondrocalcinosis 2 ?,"How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptoms of the condition. During episodes of joint pain, stiffness, and/or swelling, the following treatments may be recommended to relieve symptoms: joint aspiration (draining of fluid from the affected joint), corticosteroids injections, and/or nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or ibuprofen. Small doses of a medication called colchicine or NSAIDS are sometimes prescribed to people with frequent and severe attacks in an attempt to prevent future episodes; however, this therapy is not effective in all cases.",GARD,Chondrocalcinosis 2 +What are the symptoms of Hirschsprung disease type d brachydactyly ?,"What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Aplastic/hypoplastic toenail 90% Abnormality of the hallux 50% Anonychia 50% Brachydactyly syndrome 50% Short toe 50% Short thumb - Type D brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hirschsprung disease type d brachydactyly +What are the symptoms of Raine syndrome ?,"What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Raine syndrome +What is (are) Sturge-Weber syndrome ?,"Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.",GARD,Sturge-Weber syndrome +What are the symptoms of Sturge-Weber syndrome ?,"What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 90% Attention deficit hyperactivity disorder 50% Cerebral ischemia 50% Cognitive impairment 50% Glaucoma 50% Hyperreflexia 50% Optic atrophy 50% Abnormality of the retinal vasculature 7.5% Arnold-Chiari malformation 7.5% Autism 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Choroideremia 7.5% Conjunctival telangiectasia 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Gingival overgrowth 7.5% Hearing abnormality 7.5% Heterochromia iridis 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Retinal detachment 7.5% Visual impairment 7.5% Arachnoid hemangiomatosis - Buphthalmos - Choroidal hemangioma - Facial hemangioma - Intellectual disability - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sturge-Weber syndrome +What are the treatments for Sturge-Weber syndrome ?,"What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved.",GARD,Sturge-Weber syndrome +What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ?,"What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Depressed nasal ridge 90% Deviation of finger 90% Epicanthus 90% Genu valgum 90% Hyperlordosis 90% Large face 90% Limb undergrowth 90% Malar flattening 90% Mandibular prognathia 90% Short nose 90% Coxa vara - Deformed humeral heads - Platyspondyly - Rhizomelia - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rhizomelic dysplasia Patterson Lowry type +What is (are) Progeria ?,"Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13-14; death is usually due to heart attack or stroke. Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent. Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.",GARD,Progeria +What are the symptoms of Progeria ?,"What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of the fingernails 90% Abnormality of the genital system 90% Alopecia 90% Delayed eruption of teeth 90% Hypoplastic toenails 90% Narrow face 90% Prematurely aged appearance 90% Proptosis 90% Reduced number of teeth 90% Short distal phalanx of finger 90% Short stature 90% Thin skin 90% Weight loss 90% Abnormality of skin pigmentation 50% Abnormality of the clavicle 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the voice 50% Acrocyanosis 50% Convex nasal ridge 50% Coronary artery disease 50% External ear malformation 50% Gait disturbance 50% Lack of skin elasticity 50% Osteolysis 50% Reduced bone mineral density 50% Thin vermilion border 50% Arthralgia 7.5% Nephrosclerosis 7.5% Skeletal dysplasia 7.5% Absence of subcutaneous fat - Angina pectoris - Autosomal dominant inheritance - Congestive heart failure - Generalized osteoporosis with pathologic fractures - Growth delay - Hypoplasia of midface - Malar flattening - Myocardial infarction - Precocious atherosclerosis - Premature coronary artery disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progeria +What causes Progeria ?,"What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.",GARD,Progeria +What are the treatments for Progeria ?,"How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot discomfort due to lack of body fat Use of sunscreen on all exposed areas of skin Nitroglycerin for angina Routine anticongestive therapy if congestive heart failure is present Statins for their putative effect on farnesylation inhibition Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur Routine physical and occupational therapy to help maintain range of motion in large and small joints Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here.",GARD,Progeria +"What are the symptoms of Faciomandibular myoclonus, nocturnal ?","What are the signs and symptoms of Faciomandibular myoclonus, nocturnal? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciomandibular myoclonus, nocturnal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bruxism - Myoclonus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Faciomandibular myoclonus, nocturnal" +What is (are) Peyronie disease ?,"Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. While the painful erections for most men resolve over time, the scar tissue and curvature may remain. Some cases appear to resolve spontaneously. The exact cause of Peyronie's disease is not known.",GARD,Peyronie disease +What are the symptoms of Peyronie disease ?,"What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genitourinary system - Abnormality of the skeletal system - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Peyronie disease +What are the symptoms of Spastic paraplegia 18 ?,"What are the signs and symptoms of Spastic paraplegia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the corpus callosum 5% Intellectual disability 5% Seizures 5% Absent speech - Autosomal recessive inheritance - Babinski sign - Gait disturbance - High palate - Hyperreflexia - Kyphosis - Lower limb muscle weakness - Pes cavus - Progressive - Scoliosis - Skeletal muscle atrophy - Slow progression - Spastic paraplegia - Strabismus - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 18 +What are the symptoms of Hereditary congenital facial paresis ?,"What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary congenital facial paresis +What is (are) Bethlem myopathy ?,"Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance. Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed.",GARD,Bethlem myopathy +What are the symptoms of Bethlem myopathy ?,"What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. The features of Bethlem myopathy can appear at any age. In some cases, the symptoms start before birth with decreased fetal movements. In others, low muscle tone and a stiff neck develop following birth. During childhood, delayed developmental milestones may be noted, leading to trouble sitting or walking. In some, symptoms don't occur until adulthood. Over time, approximately two-thirds of people with Bethlem myopathy will need to use a walker or wheelchair. In addition to the muscle problems, some people with Bethlem myopathy have skin abnormalities such as small bumps called follicular hyperkeratosis that develop around the elbows and knees; soft, velvety skin on the palms and soles; and wounds that split open with little bleeding and widen over time to create shallow scars. The Human Phenotype Ontology provides the following list of signs and symptoms for Bethlem myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Decreased body weight 90% EMG abnormality 90% Limitation of joint mobility 90% Myopathy 90% Abnormality of the cardiovascular system - Ankle contracture - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular torticollis - Decreased fetal movement - Distal muscle weakness - Elbow flexion contracture - Elevated serum creatine phosphokinase - Limb-girdle muscle weakness - Motor delay - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Slow progression - Torticollis - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bethlem myopathy +What causes Bethlem myopathy ?,"What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support to the muscles. Mutations in the type VI collagen genes result in the formation of abnormal type VI collagen or reduced amounts of type VI collagen. This decrease in normal type VI collagen disrupts the extracellullar matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.",GARD,Bethlem myopathy +Is Bethlem myopathy inherited ?,"How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inherits the mutation from one affected parent. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Bethlem myopathy +What are the treatments for Bethlem myopathy ?,"How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. In rare cases, surgery may be needed (i.e. for Achilles tendon contractures or scoliosis).",GARD,Bethlem myopathy +What is (are) Emanuel syndrome ?,"Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person.",GARD,Emanuel syndrome +What are the symptoms of Emanuel syndrome ?,"What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Anal atresia - Aortic valve stenosis - Atria septal defect - Broad jaw - Cerebral atrophy - Cleft palate - Congenital diaphragmatic hernia - Congenital hip dislocation - Constipation - Cryptorchidism - Deeply set eye - Delayed eruption of primary teeth - Delayed speech and language development - Dental crowding - Facial asymmetry - Feeding difficulties - Gastroesophageal reflux - Hearing impairment - High palate - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Kyphosis - Long philtrum - Low hanging columella - Low-set ears - Low-set nipples - Macrotia - Microcephaly - Micropenis - Muscular hypotonia - Myopia - Patent ductus arteriosus - Preauricular pit - Preauricular skin tag - Pulmonic stenosis - Recurrent otitis media - Recurrent respiratory infections - Renal agenesis - Renal hypoplasia - Scoliosis - Seizures - Single umbilical artery - Strabismus - Thickened nuchal skin fold - Truncus arteriosus - Upslanted palpebral fissure - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Emanuel syndrome +"What are the symptoms of Cataract, autosomal recessive congenital 2 ?","What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cataract, autosomal recessive congenital 2" +What are the symptoms of Immunoglobulin A deficiency 2 ?,"What are the signs and symptoms of Immunoglobulin A deficiency 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunoglobulin A deficiency 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cells of the lymphoid lineage - Autoimmunity - IgA deficiency - Recurrent infection of the gastrointestinal tract - Recurrent sinopulmonary infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immunoglobulin A deficiency 2 +What is (are) Juvenile myoclonic epilepsy ?,"Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.",GARD,Juvenile myoclonic epilepsy +What causes Juvenile myoclonic epilepsy ?,"What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myoclonic epilepsy, symptoms can be precipitated by: Sleep deprivation Psychological stress Alcohol and drug use Noncompliance of medication Photic stimulation Menses Time of day - Usually mornings",GARD,Juvenile myoclonic epilepsy +Is Juvenile myoclonic epilepsy inherited ?,"Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of studies have indicated that juvenile myoclonic epilepsy is an autosomal dominant condition (i.e. 50% risk of inheritance). However, it exhibits incomplete penetrance, which means that some individuals who inherit the juvenile myoclonic epilepsy gene or genes do not express clinical juvenile myoclonic epilepsy. The children of these individuals who have the gene but do not exhibit symptoms may still inherit the genes and express clinically observable disease. Due to the complex nature of inheritance with this condition, you may benefit from consulting with a genetics professional. This type of healthcare provider can provide you with additional information about diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.",GARD,Juvenile myoclonic epilepsy +What are the treatments for Juvenile myoclonic epilepsy ?,"How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients can be well controlled on a single drug, most commonly valproic acid or lamotrigine or possibly topiramate. More details about the medications used to treat juvenile myoclonic epilepsy can be found at the following link. http://emedicine.medscape.com/article/1185061-treatment",GARD,Juvenile myoclonic epilepsy +What is (are) Hansen's disease ?,"Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition. Hansen's disease is easily treated with combination antibiotics for 6 months to 2 years.",GARD,Hansen's disease +What is (are) Pineocytoma ?,"A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body. Treatment includes surgery to remove the pineocytoma; most of these tumors do not regrow (recur) after surgery.",GARD,Pineocytoma +What are the treatments for Pineocytoma ?,"How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person. Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.",GARD,Pineocytoma +What is (are) Encephalocele ?,"Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.",GARD,Encephalocele +"What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23 ?","What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 23. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 75% Preauricular pit 5% Autosomal dominant inheritance - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, autosomal dominant nonsyndromic sensorineural 23" +What is (are) Transposition of the great arteries ?,"Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.",GARD,Transposition of the great arteries +What are the symptoms of Transposition of the great arteries ?,"What are the signs and symptoms of Transposition of the great arteries? The Human Phenotype Ontology provides the following list of signs and symptoms for Transposition of the great arteries. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Transposition of the great arteries - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transposition of the great arteries +What causes Transposition of the great arteries ?,"What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific genes including the GDF1, CFC1 and MED13L (also called THRAP2) genes have been implicated in only a small minority of TGA cases.",GARD,Transposition of the great arteries +What is (are) Ornithine transcarbamylase deficiency ?,"Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.",GARD,Ornithine transcarbamylase deficiency +What are the symptoms of Ornithine transcarbamylase deficiency ?,"What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from OTC deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. In some affected individuals, signs and symptoms of OTC deficiency may be less severe, and may not appear until later in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine transcarbamylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Hepatic failure 90% Hyperammonemia 90% Hypoglycemia 90% Pyloric stenosis 90% Splenomegaly 90% Stroke 5% Cerebral edema - Coma - Episodic ammonia intoxication - Episodic ataxia - Failure to thrive - Hyperglutaminemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Seizures - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ornithine transcarbamylase deficiency +What causes Ornithine transcarbamylase deficiency ?,"What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In OTC deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so OTC deficiency causes neurological problems as well as eventual damage to the liver.",GARD,Ornithine transcarbamylase deficiency +Is Ornithine transcarbamylase deficiency inherited ?,"How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of OTC deficiency.",GARD,Ornithine transcarbamylase deficiency +What is (are) Hydatidiform mole ?,"Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed in molar pregnancies, and because there is a small risk of developing a cancer called choriocarcinoma, a D&C is usually performed.",GARD,Hydatidiform mole +What are the symptoms of Hydatidiform mole ?,"What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Anemia 90% Nausea and vomiting 90% Spontaneous abortion 90% Toxemia of pregnancy 90% Hyperthyroidism 7.5% Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hydatidiform mole +What is (are) Achondroplasia ?,"Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.",GARD,Achondroplasia +What are the symptoms of Achondroplasia ?,"What are the signs and symptoms of Achondroplasia? In babies, apnea occurs when breathing stops for more than 15 seconds. Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal stops, choking, intermittent breathing, deep compensatory sighs, secondary bed wetting, recurrent night-time awakening or vomiting. If these signs are present then additional lung and sleep studies are recommended. The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the ribs 90% Anteverted nares 90% Brachydactyly syndrome 90% Depressed nasal bridge 90% Frontal bossing 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Macrocephaly 90% Skeletal dysplasia 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Apnea 50% Conductive hearing impairment 50% Hyperhidrosis 50% Intrauterine growth retardation 50% Joint hypermobility 50% Kyphosis 50% Long thorax 50% Malar flattening 50% Muscular hypotonia 50% Narrow chest 50% Obesity 50% Ventriculomegaly 50% Acanthosis nigricans 7.5% Elbow dislocation 7.5% Hydrocephalus 7.5% Neurological speech impairment 7.5% Spinal canal stenosis 7.5% Sudden cardiac death 7.5% Autosomal dominant inheritance - Brain stem compression - Flared metaphysis - Generalized joint laxity - Hypoplasia of midface - Infantile muscular hypotonia - Limited elbow extension - Limited hip extension - Lumbar hyperlordosis - Lumbar kyphosis in infancy - Megalencephaly - Motor delay - Neonatal short-limb short stature - Recurrent otitis media - Rhizomelia - Short femoral neck - Small foramen magnum - Spinal stenosis with reduced interpedicular distance - Trident hand - Upper airway obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondroplasia +What causes Achondroplasia ?,"What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.",GARD,Achondroplasia +Is Achondroplasia inherited ?,"Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mutation). Each individual with achondroplasia has a 50% chance, with each pregnancy, to pass on the mutated gene.",GARD,Achondroplasia +What are the treatments for Achondroplasia ?,"How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs health care provider(s). These recommendations include: Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia Measures to avoid obesity starting in early childhood. Careful neurologic examinations, with referral to a pediatric neurologist as necessary MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression Obtaining history for possible sleep apnea, with sleep studies as necessary Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present Referral to a pediatric orthopedist if bowing of the legs interferes with walking Management of frequent middle-ear infections Speech evaluation by age two years Careful monitoring of social adjustment The GeneReview article on achondroplasia also provides information on medical management. http://www.ncbi.nlm.nih.gov/books/NBK1152/#achondroplasia.Management",GARD,Achondroplasia +What is (are) Book syndrome ?,Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.,GARD,Book syndrome +What are the symptoms of Book syndrome ?,"What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. Early whitening of the hair was the most constant symptom, being found in every affected family member. The age of onset of this symptom ranged from age 6 to age 23. In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands. In the isolated case, additional features that were reported include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). The Human Phenotype Ontology provides the following list of signs and symptoms for Book syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Premature graying of hair 90% Short palm 90% Abnormality of the eyebrow 50% Abnormality of the fingernails 50% Abnormality of the palate 50% Single transverse palmar crease 50% Autosomal dominant inheritance - Hypodontia - Palmoplantar hyperhidrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Book syndrome +Is Book syndrome inherited ?,"How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only one copy of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.",GARD,Book syndrome +How to diagnose Book syndrome ?,"How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. When a person has at least two types of abnormal ectodermal features (e.g., malformed teeth and extremely sparse hair), the person is typically identified as being affected by an ectodermal dysplasia. Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias. Unfortunately, there currently is no genetic test for Book syndrome because the gene responsible for the condition has not yet been identified. People who are interested in learning more about a diagnosis of ectodermal dysplasia for themselves or family members should speak with their dermatologist and/or dentist. These specialists can help determine whether a person has signs and/or symptoms of ectodermal dysplasia.",GARD,Book syndrome +What are the symptoms of Anauxetic dysplasia ?,"What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anauxetic dysplasia +What are the symptoms of Small patella syndrome ?,"What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Patellar aplasia 90% Abnormality of the hip bone 50% Autosomal dominant inheritance - Cleft palate - Flat capital femoral epiphysis - High palate - Hypoplasia of the lesser trochanter - Patellar dislocation - Patellar hypoplasia - Pes planus - Sandal gap - Wide capital femoral epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Small patella syndrome +What is (are) MECP2 duplication syndrome ?,"MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.",GARD,MECP2 duplication syndrome +What are the symptoms of MECP2 duplication syndrome ?,"What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks of life. This reduced muscle tone can lead to feeding difficulties which may require a feeding tube. Trouble swallowing, gastroesophageal reflux, failure to thrive, and extensive drooling are also common symptoms. Distinctive physical features may be noticed shortly after birth which can include brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge. Due to hypotonia, affected children often have delayed development of motor milestones such as sitting up and crawling. Approximately, one third of affected people never walk independently and those who are able to walk may have an abnormal gait (style of walking). In most cases, hypotonia gives way to spasticity during childhood. Progressive spasticity, which is generally more pronounced in the legs, may lead to the development of mild contractures. Consequently, many affected adults require the use of a wheelchair. The majority of affected people do not develop the ability to talk. Some may have limited speech during early childhood, but frequently this ability is progressively lost during adolescence. Other signs and symptoms associated with MECP2 duplication syndrome may include seizures; autistic features; clinically significant constipation and bladder dysfunction. Many people affected by MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections can be life-threatening and as a result, approximately half of affected people succumb by age 25. In most cases, females with a duplication of the MECP2 gene do not have any symptoms, although depression, anxiety, and autistic features have been described in some. When affected, women with MECP2 duplication syndrome are generally less severely affected than males with the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for MECP2 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the teeth - Absent speech - Anxiety - Ataxia - Brachycephaly - Bruxism - Chorea - Constipation - Cryptorchidism - Depressed nasal bridge - Depression - Drooling - Dysphagia - Facial hypotonia - Flat midface - Gastroesophageal reflux - Infantile muscular hypotonia - Intellectual disability - Low-set ears - Macrocephaly - Macrotia - Malar flattening - Microcephaly - Narrow mouth - Poor eye contact - Progressive - Progressive spasticity - Recurrent respiratory infections - Rigidity - Seizures - Severe global developmental delay - Tented upper lip vermilion - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,MECP2 duplication syndrome +What causes MECP2 duplication syndrome ?,"What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not appear to affect the severity of the condition. People with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene encodes a protein that is important for normal brain functioning. Although it plays many roles, one of its most important functions is to regulate other genes in the brain by switching them on and off. A duplication of the MECP2 gene leads to the production of excess protein, which is unable to properly regulate the expression of other genes. This results in irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.",GARD,MECP2 duplication syndrome +Is MECP2 duplication syndrome inherited ?,"Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have only one X chromosome), a duplication of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevents female cells from having twice as many functional X chromosomes as males. Because X-inactivation is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often preferentially inactivated in many or all cells. This is called ""skewed X-inactivation."" It prevents some women with an MECP2 duplication from developing features of the duplication since the extra genetic material is not active. In most cases, MECP2 duplication syndrome is inherited from a mother who has no signs or symptoms of the duplication. Rarely, the condition is not inherited and occurs due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo duplication (occurring as a new genetic change for the first time in the affected person).",GARD,MECP2 duplication syndrome +How to diagnose MECP2 duplication syndrome ?,How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.,GARD,MECP2 duplication syndrome +What are the treatments for MECP2 duplication syndrome ?,"How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics. Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.",GARD,MECP2 duplication syndrome +What are the symptoms of Oral submucous fibrosis ?,"What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the oral cavity 90% Abnormality of the pharynx 90% Cheilitis 90% Trismus 90% Flexion contracture 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oral submucous fibrosis +What is (are) Sertoli cell-only syndrome ?,"Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.",GARD,Sertoli cell-only syndrome +What are the symptoms of Sertoli cell-only syndrome ?,"What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the thorax - Gynecomastia - Obesity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sertoli cell-only syndrome +What are the symptoms of Early infantile epileptic encephalopathy 25 ?,"What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epileptic encephalopathy - Muscular hypotonia of the trunk - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Early infantile epileptic encephalopathy 25 +What is (are) Twin twin transfusion syndrome ?,"Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood, and increased blood pressure, resulting in an increased risk for heart failure. Treatment may require repeated amniocentesis during pregnancy. Fetal laser surgery may be done to interrupt the flow of blood from one twin to the other. After birth, treatment depends on the infant's specific symptoms. The donor twin may need a blood transfusion to treat anemia. The recipient twin may need to have the volume of body fluid reduced. This may involve an exchange transfusion. Medications may be given to treat heart failure in the recipient twin.",GARD,Twin twin transfusion syndrome +What is (are) Chondrodysplasia punctata 2 X-linked dominant ?,"X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.",GARD,Chondrodysplasia punctata 2 X-linked dominant +What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ?,"What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the fingernails 90% Asymmetric growth 90% Epicanthus 90% Ichthyosis 90% Kyphosis 90% Ptosis 90% Short stature 90% Optic atrophy 50% Abnormal form of the vertebral bodies 7.5% Abnormality of hair texture 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the skin 7.5% Cataract 7.5% Clinodactyly of the 5th finger 7.5% Foot polydactyly 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Limb undergrowth 7.5% Malar flattening 7.5% Microcornea 7.5% Sensorineural hearing impairment 7.5% Talipes 7.5% Postaxial polydactyly 5% Abnormality of pelvic girdle bone morphology - Abnormality of the pinna - Abnormality of the thorax - Alopecia - Bilateral talipes equinovarus - Concave nasal ridge - Congenital ichthyosiform erythroderma - Congenital onset - Dandy-Walker malformation - Edema - Elevated 8(9)-cholestenol - Elevated 8-dehydrocholesterol - Epiphyseal stippling - Erythroderma - Failure to thrive - Flat face - Glaucoma - Hearing impairment - Hemiatrophy - Hemivertebrae - Hydronephrosis - Intellectual disability, moderate - Microphthalmia - Nystagmus - Patellar dislocation - Polyhydramnios - Postnatal growth retardation - Punctate vertebral calcifications - Scoliosis - Short neck - Sparse eyebrow - Sparse eyelashes - Stippled calcification in carpal bones - Tarsal stippling - Tracheal calcification - Tracheal stenosis - Variable expressivity - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chondrodysplasia punctata 2 X-linked dominant +What are the symptoms of Chang Davidson Carlson syndrome ?,"What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chang Davidson Carlson syndrome +What are the symptoms of Dyssynergia cerebellaris myoclonica ?,"What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized seizures 7.5% Abnormality of the dentate nucleus - Abnormality of the mitochondrion - Ataxia - Autosomal dominant inheritance - Intention tremor - Myoclonus - Pallidal degeneration - Ragged-red muscle fibers - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyssynergia cerebellaris myoclonica +What is (are) Cicatricial pemphigoid ?,"Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. Scarring of the affected mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5. Treatment is dependent on the person's specific symptoms.",GARD,Cicatricial pemphigoid +What are the symptoms of Camptobrachydactyly ?,"What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Camptodactyly of finger 90% Abnormality of female internal genitalia 50% Finger syndactyly 50% Toe syndactyly 50% Ulnar deviation of finger 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the thumb 7.5% Hypoplastic toenails 7.5% Autosomal dominant inheritance - Congenital finger flexion contractures - Hand polydactyly - Septate vagina - Short toe - Syndactyly - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camptobrachydactyly +What is (are) Hemophilia ?,"Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.",GARD,Hemophilia +What is (are) Virus associated hemophagocytic syndrome ?,"Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting in the destruction of blood-producing cells (histiocytic proliferation with prominent hemophagocytosis). Diagnosis is based upon the signs and symptoms of the patient. The cause of the condition is not known. Treatment is challenging and approach will vary depending on the age and medical history of the patient. Complications of this syndrome can become life threatening. Related conditions (conditions with overlapping signs and symptoms), include histiocytic medullary reticulosis (HMR), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative syndrome.",GARD,Virus associated hemophagocytic syndrome +What are the symptoms of Oculo-cerebral dysplasia ?,"What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Dandy-Walker malformation 90% Optic atrophy 90% Abnormality of the palpebral fissures 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculo-cerebral dysplasia +What is (are) Sialidosis type I ?,"Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.",GARD,Sialidosis type I +What are the symptoms of Sialidosis type I ?,"What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Aminoaciduria 90% Coarse facial features 90% Delayed skeletal maturation 90% Gait disturbance 90% Hyperkeratosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Retinopathy 90% Scoliosis 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Splenomegaly 90% Thick lower lip vermilion 90% Visual impairment 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% EEG abnormality 50% Frontal bossing 50% Hernia 50% Morphological abnormality of the central nervous system 50% Muscular hypotonia 50% Skeletal muscle atrophy 50% Tremor 50% Cataract 7.5% Kyphosis 7.5% Ascites - Autosomal recessive inheritance - Bone-marrow foam cells - Cardiomegaly - Cardiomyopathy - Cherry red spot of the macula - Dysmetria - Dysostosis multiplex - Epiphyseal stippling - Facial edema - Hepatomegaly - Hydrops fetalis - Hyperreflexia - Increased urinary O-linked sialopeptides - Inguinal hernia - Intellectual disability - Muscle weakness - Myoclonus - Progressive visual loss - Proteinuria - Slurred speech - Urinary excretion of sialylated oligosaccharides - Vacuolated lymphocytes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sialidosis type I +What are the treatments for Sialidosis type I ?,"How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.",GARD,Sialidosis type I +What is (are) Laryngeal cleft ?,"A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting.",GARD,Laryngeal cleft +What are the symptoms of Laryngeal cleft ?,"What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft. Swallowing problems, a husky cry and feeding difficulties are common. Feeding often causes stridor, coughing, choking, gagging, cyanosis, regurgitation, and frequent respiratory infections. Many individuals with laryngeal clefts develop chronic lung disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngeal cleft. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Laryngomalacia 90% Abnormality of the voice - Aspiration - Cyanosis - Laryngeal stridor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laryngeal cleft +What causes Laryngeal cleft ?,"What causes laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus may remain open to each other or abnormally shaped, causing abnormalities such as a laryngeal cleft, tracheoesophageal fistula, or esophageal atresia. Exactly why these abnormalities occur is unknown.",GARD,Laryngeal cleft +What are the treatments for Laryngeal cleft ?,"How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. During infancy, nursing in the upright position or thickening of formula may be necessary. If these treatments are not enough, surgery may be recommended. Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft.",GARD,Laryngeal cleft +What are the symptoms of Iminoglycinuria ?,"What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Intellectual disability - Prolinuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Iminoglycinuria +What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ?,"What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ataxia with Oculomotor Apraxia Type 2 +What is (are) Olivopontocerebellar atrophy ?,"Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.",GARD,Olivopontocerebellar atrophy +Is Olivopontocerebellar atrophy inherited ?,"Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is inherited in an autosomal dominant manner. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance. Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA). People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired.",GARD,Olivopontocerebellar atrophy +How to diagnose Olivopontocerebellar atrophy ?,"How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.",GARD,Olivopontocerebellar atrophy +"What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ?","What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" +What is (are) Brown syndrome ?,"Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery.",GARD,Brown syndrome +What are the treatments for Brown syndrome ?,"How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medications like Ibuprofen. Acquired cases of inflammatory Brown syndrome may be successfully treated with corticosteroids. Surgery is considered in cases which present with double vision, compromised binocular vision, significant abnormalities in head position or obvious eye misalignment when looking straight ahead. You can find additional information regarding treatment of Brown syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using 'brown syndrome [ti] AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www.ncbi.nlm.nih.gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.",GARD,Brown syndrome +What is (are) Barber Say syndrome ?,"Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.",GARD,Barber Say syndrome +What are the symptoms of Barber Say syndrome ?,"What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Barber Say syndrome +What is (are) Keratosis follicularis spinulosa decalvans ?,"Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked manner.",GARD,Keratosis follicularis spinulosa decalvans +What are the symptoms of Keratosis follicularis spinulosa decalvans ?,"What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratosis follicularis spinulosa decalvans +What is (are) Merkel cell carcinoma ?,"Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread.",GARD,Merkel cell carcinoma +What causes Merkel cell carcinoma ?,"What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. Risk factors include: -being over 50 years of age -having fair skin -having a history of extensive sun exposure (natural or artificial) -having chronic immune suppression, such as after organ transplantation or having HIV Researchers have also found that a virus called Merkel cell polyomavirus (MCPyV) is frequently involved in the development of MCC. MCPyV is found in about 80% of tumor cells tested. This virus is thought to alter the DNA in such a way that influences tumor development.",GARD,Merkel cell carcinoma +Is Merkel cell carcinoma inherited ?,"Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutations and occur during a person's lifetime, often as random events. Sometimes, something in the environment can lead to a somatic mutation, such as long-term sun exposure or infection with the Merkel cell polyomavirus. These are known risk factors for developing MCC.",GARD,Merkel cell carcinoma +"What is (are) Limb-girdle muscular dystrophy, type 2C ?","Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms.",GARD,"Limb-girdle muscular dystrophy, type 2C" +"What are the symptoms of Limb-girdle muscular dystrophy, type 2C ?","What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Limb-girdle muscular dystrophy, type 2C" +"What are the treatments for Limb-girdle muscular dystrophy, type 2C ?","What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders",GARD,"Limb-girdle muscular dystrophy, type 2C" +What is (are) Non 24 hour sleep wake disorder ?,"Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role.",GARD,Non 24 hour sleep wake disorder +What are the symptoms of Non 24 hour sleep wake disorder ?,"What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Non 24 hour sleep wake disorder +What is (are) Erythromelalgia ?,"Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.",GARD,Erythromelalgia +What are the symptoms of Erythromelalgia ?,"What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Erythromelalgia +What causes Erythromelalgia ?,"What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.",GARD,Erythromelalgia +How to diagnose Erythromelalgia ?,"How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.",GARD,Erythromelalgia +What are the treatments for Erythromelalgia ?,"What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups.",GARD,Erythromelalgia +What is (are) Gigantomastia ?,"Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical literature suggests that definitions range from a D-cup bra size to breast enlargement requiring reduction of over 0.8 - 2 kg, which is equivalent to about 1.75 - 4.5 pounds. The exact cause of gigantomastia has not been determined. Nonetheless, the following theories have been proposed to explain gigantomastia: (1) end-organ hypersensitivity (a condition in which the breast tissue is more sensitive to hormones circulating in the body), (2) autoimmune issues, (3) high IGF-1 (insulin growth factor-1, a hormone involved in regulating bone growth) and (4) hyperprolactanemia (high levels of prolactin). Gigantomastia has been noted as a side effect of treatment with certain medications like D-pencillamine and in one case as an apparently hereditary condition. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is may also associated with decreased fetal growth, if the gigantomastia is present during pregnancy. Treatment is based on the person's symptoms and may include breast reduction, mastectomy with or without reconstruction, hormonal treatment, or a combination of treatments.",GARD,Gigantomastia +What are the treatments for Gigantomastia ?,"What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. Mastectomy might be recommended following recurrence of gigantomastia after breast reduction, especially in those patients who have gigantomastia associated with puberty or pregnancy. It is important to discuss this information with a health care provider in order to determine what treatment might be appropriate.",GARD,Gigantomastia +What is (are) Pili torti ?,"Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti.",GARD,Pili torti +What are the symptoms of Pili torti ?,"What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pili torti +What are the treatments for Pili torti ?,"Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.",GARD,Pili torti +What are the symptoms of Pyknoachondrogenesis ?,"What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyknoachondrogenesis +What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?,"What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thrombocytopenia with elevated serum IgA and renal disease +What are the symptoms of Merlob Grunebaum Reisner syndrome ?,"What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Merlob Grunebaum Reisner syndrome +What is (are) Dendritic cell tumor ?,"A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.",GARD,Dendritic cell tumor +What is (are) Medullary cystic kidney disease ?,"Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.",GARD,Medullary cystic kidney disease +What are the symptoms of Medullary cystic kidney disease ?,"What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Medullary cystic kidney disease +What causes Medullary cystic kidney disease ?,"What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease.",GARD,Medullary cystic kidney disease +Is Medullary cystic kidney disease inherited ?,How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children.,GARD,Medullary cystic kidney disease +What are the symptoms of Pterygium colli mental retardation digital anomalies ?,"What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pterygium colli mental retardation digital anomalies +What is (are) X-linked lymphoproliferative syndrome ?,,GARD,X-linked lymphoproliferative syndrome +What are the symptoms of X-linked lymphoproliferative syndrome ?,"What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked lymphoproliferative syndrome +What is (are) Ambras syndrome ?,"Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.",GARD,Ambras syndrome +What are the symptoms of Ambras syndrome ?,"What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital, generalized hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ambras syndrome +What are the symptoms of Ataxia - hypogonadism - choroidal dystrophy ?,"What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ataxia - hypogonadism - choroidal dystrophy +What is (are) Hashimoto's encephalitis ?,"Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with HE respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months.",GARD,Hashimoto's encephalitis +What are the symptoms of Hashimoto's encephalitis ?,"What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported.",GARD,Hashimoto's encephalitis +What causes Hashimoto's encephalitis ?,"What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism.",GARD,Hashimoto's encephalitis +Is Hashimoto's encephalitis inherited ?,"Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers.",GARD,Hashimoto's encephalitis +What are the treatments for Hashimoto's encephalitis ?,"How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve over a few months. Decisions regarding the length of steroid treatment and the rate of tapering off steroids are based on the individual's response to treatment. Treatment may last as long as two years in some patients. People with HE who experience repeated HE relapses, do not respond to steroids, and/or cannot tolerate steroid treatment have been treated with other immunosuppressive medications such as azathioprine and cyclophosphamide. Intravenous immunoglobulin, and plasmapheresis have also been used.",GARD,Hashimoto's encephalitis +What is (are) Mosaic trisomy 9 ?,"Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.",GARD,Mosaic trisomy 9 +What are the symptoms of Mosaic trisomy 9 ?,"What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and ""slitlike"" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or ""rocker bottom"" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation",GARD,Mosaic trisomy 9 +What causes Mosaic trisomy 9 ?,"What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 9 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 9 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 9. In people with mosaic trisomy 9, this attempt may be partly successful, leaving some cells with an extra chromosome 9 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue. In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms. In rare cases, mosaic trisomy 9 is inherited from a parent with a chromosomal rearrangement called a ""pericentric inversion."" This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. If this rearrangement is considered ""balanced,"" meaning the piece of chromosome is in a different order but no genetic material is gained or lost, it usually does not cause any symptoms or health problems. However, it can be associated with an increased risk of having children with an abnormal number or chromosomes.",GARD,Mosaic trisomy 9 +Is Mosaic trisomy 9 inherited ?,"Is mosaic trisomy 9 inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a ""pericentric inversion."" This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. In these cases, the parent has a ""balanced"" rearrangement, meaning the piece of chromosome is in a different order but no genetic material is gained or lost. Carriers of a balanced rearrangement typically to not have any symptoms or health problems. However, they may be at an increased risk of having children with an abnormal number or chromosomes.",GARD,Mosaic trisomy 9 +How to diagnose Mosaic trisomy 9 ?,"How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.",GARD,Mosaic trisomy 9 +What are the treatments for Mosaic trisomy 9 ?,"How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms.",GARD,Mosaic trisomy 9 +What are the symptoms of Mucopolysaccharidosis type IV ?,"What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type IV +"What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ?","What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior segment dysgenesis - Atresia of the external auditory canal - Autosomal recessive inheritance - Convex nasal ridge - Hypertelorism - Intrauterine growth retardation - Macrotia - Microcephaly - Narrow mouth - Retrognathia - Semilobar holoprosencephaly - Strabismus - Telecanthus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Microcephaly, holoprosencephaly, and intrauterine growth retardation" +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Axonal regeneration - Distal sensory impairment - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F +What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ?,"What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Alopecia 90% Myopathy 90% Neurological speech impairment 90% Ophthalmoparesis 90% Abnormality of dental enamel 50% Aplasia/Hypoplasia of the skin 50% Ptosis 50% Fatigable weakness 7.5% Anemia - Autosomal recessive inheritance - Carious teeth - Hypoplasia of dental enamel - Increased connective tissue - Keratitis - Milia - Muscular dystrophy - Nail dysplasia - Nail dystrophy - Neonatal respiratory distress - Palmoplantar hyperkeratosis - Punctate keratitis - Scarring alopecia of scalp - Short stature - Urethral stricture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epidermolysa bullosa simplex with muscular dystrophy +What are the symptoms of Cone-rod dystrophy amelogenesis imperfecta ?,"What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of retinal pigmentation 90% Nystagmus 90% Photophobia 90% Visual impairment 90% Optic atrophy 50% Amelogenesis imperfecta - Autosomal recessive inheritance - Carious teeth - Cone/cone-rod dystrophy - Monochromacy - Nyctalopia - Optic disc pallor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone-rod dystrophy amelogenesis imperfecta +What is (are) Pityriasis lichenoides et varioliformis acuta ?,"Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids.",GARD,Pityriasis lichenoides et varioliformis acuta +What are the symptoms of Pityriasis lichenoides et varioliformis acuta ?,"What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, please click here.",GARD,Pityriasis lichenoides et varioliformis acuta +What causes Pityriasis lichenoides et varioliformis acuta ?,What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage.,GARD,Pityriasis lichenoides et varioliformis acuta +How to diagnose Pityriasis lichenoides et varioliformis acuta ?,How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection.,GARD,Pityriasis lichenoides et varioliformis acuta +What are the treatments for Pityriasis lichenoides et varioliformis acuta ?,"How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, there are many different therapies that have been used to treat PLEVA with varying degrees of success. These include: Oral antibiotics Sun exposure Topical steroids Immunomodulators (medications used to help regulate or normalize the immune system) Phototherapy Systemic steroids Unfortunately, PLEVA may not always respond to treatment and relapses often occur when treatment is discontinued.",GARD,Pityriasis lichenoides et varioliformis acuta +What are the symptoms of Pellagra like syndrome ?,"What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pellagra like syndrome +What is (are) Rheumatic Fever ?,"Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red tonsils; fever; headache; and/or muscle and joint aches. Some affected people develop rheumatic heart disease, which can lead to serious inflammation and scarring of the heart valves. It is not clear why some people who are infected with group A Streptococcus bacteria go on to develop rheumatic fever, while others do not; however, it appears that some families may have a genetic susceptibility to develop the condition. Treatment usually includes antibiotics and/or anti-inflammatory medications.",GARD,Rheumatic Fever +What are the symptoms of Rheumatic Fever ?,"What are the signs and symptoms of Rheumatic Fever? Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. Early signs and symptoms may include sore throat; swollen red tonsils; fever; headache; and/or muscle aches. Affected people may also experience: Abdominal pain Rheumatic heart disease Joint pain and/or swelling Nosebleeds Skin nodules (painless, firm, round lumps underneath the skin) Skin rash Sydenham chorea (abrupt, non-repetitive limb movements and grimaces) People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition. This can cause progressive (worsening over time) heart damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatic Fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Anorexia 90% Arthritis 90% Hypermelanotic macule 90% Nausea and vomiting 90% Recurrent pharyngitis 90% Abdominal pain 50% Abnormality of the aortic valve 50% Abnormality of the endocardium 50% Abnormality of the mitral valve 50% Abnormality of the myocardium 50% Arrhythmia 50% Arthralgia 50% Chest pain 50% Chorea 50% Pallor 50% Sinusitis 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Behavioral abnormality 7.5% Constipation 7.5% Epistaxis 7.5% Gait disturbance 7.5% Hemiballismus 7.5% Migraine 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Abnormality of the immune system - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rheumatic Fever +What causes Rheumatic Fever ?,"What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus bacterial infections are highly contagious, rheumatic fever is not spread from person to person. The exact underlying cause of the condition is not well understood and it is unclear why some people with strep infections go on to develop rheumatic fever, while others do not. However, some scientists suspect that an exaggerated immune response in genetically susceptible people may play a role in the development of the condition.",GARD,Rheumatic Fever +Is Rheumatic Fever inherited ?,"Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility.",GARD,Rheumatic Fever +How to diagnose Rheumatic Fever ?,"How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat culture or blood tests The diagnosis can also be supported by blood tests that confirm the presence of certain proteins that increase in response to inflammation (called acute-phase reactants) and tend to be elevated in rheumatic fever. Additional tests may be recommended to rule out other conditions that cause similar features.",GARD,Rheumatic Fever +What are the treatments for Rheumatic Fever ?,"How might rheumatic fever be treated? Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence.",GARD,Rheumatic Fever +What is (are) Meningoencephalocele ?,"Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.",GARD,Meningoencephalocele +What causes Meningoencephalocele ?,"What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition.",GARD,Meningoencephalocele +Is Meningoencephalocele inherited ?,"Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition.",GARD,Meningoencephalocele +What is (are) X-linked adrenal hypoplasia congenita ?,"X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.",GARD,X-linked adrenal hypoplasia congenita +What are the symptoms of X-linked adrenal hypoplasia congenita ?,"What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked adrenal hypoplasia congenita +What causes X-linked adrenal hypoplasia congenita ?,"What causes X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.",GARD,X-linked adrenal hypoplasia congenita +Is X-linked adrenal hypoplasia congenita inherited ?,"How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.",GARD,X-linked adrenal hypoplasia congenita +What is (are) Schizencephaly ?,"Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.",GARD,Schizencephaly +What are the symptoms of Schizencephaly ?,"What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schizencephaly +What causes Schizencephaly ?,"What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby.",GARD,Schizencephaly +Is Schizencephaly inherited ?,Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene.,GARD,Schizencephaly +How to diagnose Schizencephaly ?,"Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.",GARD,Schizencephaly +What are the treatments for Schizencephaly ?,"How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.",GARD,Schizencephaly +What are the symptoms of Cleft palate X-linked ?,"What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleft palate X-linked +What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ?,"What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vertebral fusion posterior lumbosacral blepharoptosis +What is (are) Wolfram syndrome ?,"Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.",GARD,Wolfram syndrome +What are the symptoms of Wolfram syndrome ?,"What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries. The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wolfram syndrome +What causes Wolfram syndrome ?,"What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2. Mutations in mitochondrial DNA may also be a rare cause of Wolfram syndrome in some families.",GARD,Wolfram syndrome +Is Wolfram syndrome inherited ?,"Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Wolfram syndrome +How to diagnose Wolfram syndrome ?,"How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Wolfram syndrome +What are the treatments for Wolfram syndrome ?,"How might Wolfram syndrome be treated? Treatment of Wolfram syndrome is supportive and based on the signs and symptoms present in each person. For example, almost all affected people require insulin to treat diabetes mellitus. People with hearing loss may benefit from hearing aids or cochlear implantation. For more detailed information regarding the treatment and management of Wolfram syndrome, click here.",GARD,Wolfram syndrome +What is (are) Hemangiopericytoma ?,"Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body.",GARD,Hemangiopericytoma +What are the symptoms of Hemangiopericytoma ?,"What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemangiopericytoma +What causes Hemangiopericytoma ?,"What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides.",GARD,Hemangiopericytoma +What are the treatments for Hemangiopericytoma ?,What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization.,GARD,Hemangiopericytoma +What is (are) Focal dermal hypoplasia ?,"Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons.",GARD,Focal dermal hypoplasia +What are the symptoms of Focal dermal hypoplasia ?,"What are the signs and symptoms of Focal dermal hypoplasia? Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities. Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair. The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms. Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate. About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele. The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dermal hypoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the nail 90% Camptodactyly of finger 90% Dermal atrophy 90% Finger syndactyly 90% Hand polydactyly 90% Hypermelanotic macule 90% Lower limb asymmetry 90% Low-set, posteriorly rotated ears 90% Reduced number of teeth 90% Rough bone trabeculation 90% Split foot 90% Split hand 90% Telangiectasia of the skin 90% Thin skin 90% Toe syndactyly 90% Verrucae 90% Abnormal localization of kidney 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the ribs 50% Alopecia 50% Aplasia/Hypoplasia of the iris 50% Choroideremia 50% Cognitive impairment 50% Dental malocclusion 50% Ectopia lentis 50% Facial asymmetry 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Opacification of the corneal stroma 50% Scoliosis 50% Spina bifida 50% Strabismus 50% Abdominal pain 7.5% Abnormality of adipose tissue 7.5% Abnormality of the mediastinum 7.5% Abnormality of the pulmonary vasculature 7.5% Acute hepatic failure 7.5% Aplasia/Hypoplasia of the lungs 7.5% Congenital diaphragmatic hernia 7.5% Duodenal stenosis 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Omphalocele 7.5% Patent ductus arteriosus 7.5% Pointed chin 7.5% Renal hypoplasia/aplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Abnormality of the larynx - Abnormality of the pinna - Absent fingernail - Absent toenail - Agenesis of corpus callosum - Aniridia - Anophthalmia - Anteriorly placed anus - Arnold-Chiari malformation - Bifid ureter - Brachydactyly syndrome - Brittle hair - Broad nasal tip - Chorioretinal coloboma - Cleft ala nasi - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Congenital hip dislocation - Cryptorchidism - Delayed eruption of teeth - Diastasis recti - Foot polydactyly - Hiatus hernia - Horseshoe kidney - Hydrocephalus - Hydronephrosis - Hypodontia - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint laxity - Labial hypoplasia - Linear hyperpigmentation - Low-set ears - Microcephaly - Microphthalmia - Midclavicular aplasia - Midclavicular hypoplasia - Mixed hearing impairment - Myelomeningocele - Nail dysplasia - Nystagmus - Oligodactyly (feet) - Oligodactyly (hands) - Oligodontia - Optic atrophy - Osteopathia striata - Patchy alopecia - Postaxial hand polydactyly - Reduced visual acuity - Reticular hyperpigmentation - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short ribs - Short stature - Sparse hair - Spina bifida occulta - Stenosis of the external auditory canal - Supernumerary nipple - Telangiectasia - Ureteral duplication - Visual impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Focal dermal hypoplasia +Is Focal dermal hypoplasia inherited ?,"How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional.",GARD,Focal dermal hypoplasia +What are the symptoms of Homocarnosinosis ?,"What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation - Abnormality of skin pigmentation - Autosomal recessive inheritance - Carnosinuria - Intellectual disability - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Homocarnosinosis +What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.,GARD,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia +What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?,"What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia +What is (are) Biotin-thiamine-responsive basal ganglia disease ?,"Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.",GARD,Biotin-thiamine-responsive basal ganglia disease +What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ?,"What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Biotin-thiamine-responsive basal ganglia disease +What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ?,"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature +What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ?,"What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature +What is (are) Mnire's disease ?,"Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition.",GARD,Mnire's disease +What are the symptoms of Mnire's disease ?,"What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Vertigo attacks can lead to severe nausea, vomiting, and sweating, and often come with little or no warning. Some people with Mnire's disease have attacks that start with tinnitus (ear noises), a loss of hearing, or a full feeling or pressure in the affected ear. It is important to remember that all of these symptoms are unpredictable. Typically, the attack is characterized by a combination of vertigo, tinnitus, and hearing loss lasting several hours. People experience these discomforts at varying frequencies, durations, and intensities. Some may feel slight vertigo a few times a year. Others may be occasionally disturbed by intense, uncontrollable tinnitus while sleeping. Affected people may also notice hearing loss or feel unsteady for prolonged periods. Other occasional symptoms of Mnire's disease may include headaches, abdominal discomfort, and diarrhea. A person's hearing tends to recover between attacks but over time may become worse. Meniere's disease usually starts in one ear but it may extend to involve both ears over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Mnire's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hearing impairment - Tinnitus - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mnire's disease +What causes Mnire's disease ?,"What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site.",GARD,Mnire's disease +How to diagnose Mnire's disease ?,"How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.",GARD,Mnire's disease +What are the treatments for Mnire's disease ?,"How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). Medications such as antihistamines, anticholinergics, and diuretics may lower endolymphatic pressure by reducing the amount of endolymphatic fluid. Eliminating tobacco use and reducing stress levels may also help lessen the severity of symptoms. Symptoms such as dizziness, vertigo, and associated nausea and vomiting may respond to sedative/hypnotics, benzodiazepines like diazepam and anti-emetics. Different surgical procedures are an option for individuals with persistent, debilitating vertigo. Labyrinthectomy (removal of the inner ear sense organ) can effectively control vertigo, but sacrifices hearing and is reserved for patients with nonfunctional hearing in the affected ear. Vestibular neurectomy, selectively severing a nerve from the affected inner ear organ, usually controls the vertigo while preserving hearing but carries surgical risks. Recently, the administration of the ototoxic antibiotic gentamycin directly into the middle ear space has gained popularity worldwide for the control of vertigo associated with Mnire's disease. An article published in the journal Lancet in August 2008, written by Sajjadi and Paparella, reviews treatment options and strategies for individuals with Mnire's disease. Click here to view the abstract of this article. To obtain the complete article, the NLM Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). Click on NLM Web site to access this page or go to the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.",GARD,Mnire's disease +What is (are) Eosinophilic fasciitis ?,"Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related.",GARD,Eosinophilic fasciitis +What are the symptoms of Eosinophilic fasciitis ?,"What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Eosinophilic fasciitis +What are the treatments for Eosinophilic fasciitis ?,"How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions. Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures.",GARD,Eosinophilic fasciitis +What are the symptoms of Madokoro Ohdo Sonoda syndrome ?,"What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Madokoro Ohdo Sonoda syndrome +What is (are) Myotonia congenita autosomal dominant ?,"Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.",GARD,Myotonia congenita autosomal dominant +What are the symptoms of Myotonia congenita autosomal dominant ?,"What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myotonia congenita autosomal dominant +What is (are) Progressive pseudorheumatoid arthropathy of childhood ?,"Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type",GARD,Progressive pseudorheumatoid arthropathy of childhood +What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ?,"What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive pseudorheumatoid arthropathy of childhood +What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ?,"What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness +What are the symptoms of Conductive deafness with malformed external ear ?,"What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Conductive deafness with malformed external ear +What is (are) Chromosome 8p deletion ?,"Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 8p deletion +What are the symptoms of Monomelic amyotrophy ?,"What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Monomelic amyotrophy +What are the symptoms of Palant cleft palate syndrome ?,"What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bulbous nose - Cleft palate - Contracture of the proximal interphalangeal joint of the 4th finger - Contracture of the proximal interphalangeal joint of the 5th finger - Exaggerated cupid's bow - Intellectual disability, progressive - Intellectual disability, severe - Motor delay - Short stature - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Palant cleft palate syndrome +What are the symptoms of Optic atrophy polyneuropathy deafness ?,"What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy polyneuropathy deafness +What are the symptoms of Corneal dystrophy Thiel Behnke type ?,"What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Corneal scarring - Juvenile epithelial corneal dystrophy - Photophobia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneal dystrophy Thiel Behnke type +What are the symptoms of Mutiple parosteal osteochondromatous proliferations ?,"What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mutiple parosteal osteochondromatous proliferations +What are the symptoms of Ectodermal dysplasia mental retardation syndactyly ?,"What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 2-3 toe syndactyly - 3-4 finger syndactyly - Abnormal facial shape - Abnormality of the ear - Aplasia cutis congenita of scalp - Aqueductal stenosis - Autosomal recessive inheritance - Dental crowding - Dry skin - Ectodermal dysplasia - Headache - Hypohidrosis - Intellectual disability - Long palpebral fissure - Onychogryposis of toenails - Open mouth - Shovel-shaped maxillary central incisors - Sparse eyebrow - Sporadic - Subcapsular cataract - Ventriculomegaly - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectodermal dysplasia mental retardation syndactyly +What is (are) Pityriasis lichenoides chronica ?,"Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years.",GARD,Pityriasis lichenoides chronica +What are the symptoms of Pityriasis lichenoides chronica ?,"What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites.",GARD,Pityriasis lichenoides chronica +How to diagnose Pityriasis lichenoides chronica ?,"How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition.",GARD,Pityriasis lichenoides chronica +What are the treatments for Pityriasis lichenoides chronica ?,"How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic.",GARD,Pityriasis lichenoides chronica +What is (are) Osteogenesis imperfecta type VI ?,"Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct ""fish-scale"" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.",GARD,Osteogenesis imperfecta type VI +What are the symptoms of Osteogenesis imperfecta type VI ?,"What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (osteopenia) and break easily beginning after 6 months of age. A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct ""fish-scale"" pattern. Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Coxa vara - Increased susceptibility to fractures - Ligamentous laxity - Protrusio acetabuli - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type VI +Is Osteogenesis imperfecta type VI inherited ?,"How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.",GARD,Osteogenesis imperfecta type VI +How to diagnose Osteogenesis imperfecta type VI ?,"Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on ""Testing"" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.",GARD,Osteogenesis imperfecta type VI +What are the symptoms of Autosomal recessive spastic ataxia 4 ?,"What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Emotional lability 5% Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dysarthria - Hyporeflexia - Nystagmus - Optic atrophy - Slow progression - Spastic ataxia - Spastic paraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive spastic ataxia 4 +What are the symptoms of Fountain syndrome ?,"What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Edema 90% Round face 90% Sensorineural hearing impairment 90% Thick lower lip vermilion 90% EEG abnormality 50% Full cheeks 50% Hyperextensible skin 50% Malar flattening 50% Wide mouth 50% Abnormality of the metacarpal bones 7.5% Abnormality of the metaphyses 7.5% Abnormality of the palate 7.5% Clubbing of toes 7.5% Cutis marmorata 7.5% Gingival overgrowth 7.5% Kyphosis 7.5% Large hands 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Scoliosis 7.5% Seizures 7.5% Short stature 7.5% Spina bifida occulta 7.5% Thick eyebrow 7.5% Autosomal recessive inheritance - Broad palm - Facial edema - Intellectual disability - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fountain syndrome +What is (are) Mitochondrial genetic disorders ?,"Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely. Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. Treatment varies based on the specific type of condition and the signs and symptoms present in each person.",GARD,Mitochondrial genetic disorders +What are the symptoms of Mitochondrial genetic disorders ?,"What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include: Poor growth Loss of muscle coordination Muscle weakness Seizures Autism Problems with vision and/or hearing Developmental delay Learning disabilities Heart, liver, and/or kidney disease Gastrointestinal disorders Diabetes Increased risk of infection Thyroid and/or adrenal abnormalities Autonomic dysfunction Dementia The United Mitochondrial Disease Foundation's website features a comprehensive list of possible symptoms (click here to see this information) and symptoms categorized by type of mitochondrial genetic disorder (click here to access this page).",GARD,Mitochondrial genetic disorders +What causes Mitochondrial genetic disorders ?,"What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders.",GARD,Mitochondrial genetic disorders +Is Mitochondrial genetic disorders inherited ?,"Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females. In some cases, the condition results from a new (de novo) mutation in a mitochondrial gene and occurs in a person with no history of the condition in the family. Mitochondrial genetic disorders caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. In autosomal dominant conditions, one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with an autosomal dominant condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.",GARD,Mitochondrial genetic disorders +How to diagnose Mitochondrial genetic disorders ?,"How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, the pattern of symptoms may be suggestive of a specific mitochondrial condition. If the disease-causing gene(s) associated with the particular condition is known, the diagnosis can then be confirmed with genetic testing. If a mitochondrial genetic disorder is suspected but the signs and symptoms do not suggest a specific diagnosis, a more extensive work-up may be required. In these cases, a physician may start by evaluating the levels of certain substances in a sample of blood or cerebrospinal fluid. Other tests that can support a diagnosis include: Exercise testing Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup) Imaging studies of the brain such as MRI or CT scan Electroencephalography (EEG) Tests that evaluate the heart including electrocardiography and echocardiography Muscle biopsy When possible, confirming a diagnosis with genetic testing can have important implications for family members. Identifying the disease-causing gene(s) will give the family information about the inheritance pattern and the risk to other family members. It will also allow other at-risk family members to undergo genetic testing. For more information regarding the diagnosis of mitochondrial genetic disorders, please visit the United Mitochondrial Disease Foundation's ""Getting a Diagnosis"" Web page. GeneReviews also provides information on establishing a diagnosis of a mitochondrial disorder. Click on the link to view the article on this topic.",GARD,Mitochondrial genetic disorders +What are the treatments for Mitochondrial genetic disorders ?,"How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example, a variety of vitamins and other supplements have been used to treat people affected by mitochondrial conditions with varying degrees of success. Other examples of possible interventions include medications to treat diabetes mellitus, surgery for cataracts, and cochlear implantation for hearing loss. For more general information about the treatment of mitochondrial genetic disorders, please visit GeneReviews.",GARD,Mitochondrial genetic disorders +What is (are) Neonatal progeroid syndrome ?,"Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.",GARD,Neonatal progeroid syndrome +What are the symptoms of Neonatal progeroid syndrome ?,"What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neonatal progeroid syndrome +What causes Neonatal progeroid syndrome ?,"What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.",GARD,Neonatal progeroid syndrome +Is Neonatal progeroid syndrome inherited ?,"Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Neonatal progeroid syndrome +How to diagnose Neonatal progeroid syndrome ?,"How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth.",GARD,Neonatal progeroid syndrome +What are the treatments for Neonatal progeroid syndrome ?,"How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight.",GARD,Neonatal progeroid syndrome +What is (are) Hypophosphatasia ?,"Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.",GARD,Hypophosphatasia +What are the symptoms of Hypophosphatasia ?,"What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases. The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation. The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of the teeth 90% Bowing of the long bones 90% Craniosynostosis 90% Emphysema 90% Narrow chest 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Anemia 50% Behavioral abnormality 50% Hypercalcemia 50% Muscular hypotonia 50% Recurrent fractures 50% Respiratory insufficiency 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypophosphatasia +What causes Hypophosphatasia ?,"What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP.",GARD,Hypophosphatasia +Is Hypophosphatasia inherited ?,"How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP.",GARD,Hypophosphatasia +What are the treatments for Hypophosphatasia ?,"How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.",GARD,Hypophosphatasia +What are the symptoms of Kapur Toriello syndrome ?,"What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kapur Toriello syndrome +What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ?,"What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Constipation - Decreased fetal movement - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Denervation of the diaphragm - Diaphragmatic eventration - Diaphragmatic paralysis - Distal amyotrophy - Distal muscle weakness - EMG: neuropathic changes - Failure to thrive - Hyperhidrosis - Hyporeflexia - Inspiratory stridor - Intrauterine growth retardation - Limb muscle weakness - Peripheral axonal degeneration - Premature birth - Respiratory failure - Small for gestational age - Spinal muscular atrophy - Tachypnea - Talipes equinovarus - Urinary incontinence - Ventilator dependence with inability to wean - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinal muscular atrophy with respiratory distress 1 +What is (are) Glutaric acidemia type II ?,"Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.",GARD,Glutaric acidemia type II +What are the symptoms of Glutaric acidemia type II ?,"What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glutaric acidemia type II +What are the treatments for Glutaric acidemia type II ?,"How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended: -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises. -A low-fat, low-protein, high-carbohydrate diet may be advised. -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy. -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis.",GARD,Glutaric acidemia type II +What is (are) Neurofibromatosis type 1 ?,"Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person.",GARD,Neurofibromatosis type 1 +What are the symptoms of Neurofibromatosis type 1 ?,"What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in the body. Most will develop these tumors on or just underneath the skin; however, neurofibromas can also grow in other places in the body and may even affect multiple nerves. Malignant peripheral nerve sheath tumors, which also grow along the nerves throughout the body, are the most common cancerous tumor found in people with NF1 and occur in approximately 10% of affected people. In children with NF1, the most common tumors are optic glioma (tumors that grow along the nerve leading from the eye to the brain) and brain tumors. Optic gliomas associated with NF1 are often asymptomatic although they can lead to vision loss. Other features of NF1 may include: Caf au lait spots (flat patches on the skin that are darker than the surrounding area) Freckling, especially in the underarm and groin Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Learning disabilities Seizures Autism spectrum disorder High blood pressure Short stature An unusually large head (macrocephaly) Skeletal abnormalities such as scoliosis GeneReview's Web site offers more specific information about the features of NF1. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cafe-au-lait spot 100% Lisch nodules 95% Benign neoplasm of the central nervous system 90% Generalized hyperpigmentation 90% Hypermelanotic macule 90% Kyphosis 90% Melanocytic nevus 90% Multiple lipomas 90% Neoplasm of the skin 90% Attention deficit hyperactivity disorder 50% Freckling 50% Hearing impairment 50% Heterochromia iridis 50% Incoordination 50% Memory impairment 50% Migraine 50% Neurological speech impairment 50% Paresthesia 50% Proptosis 50% Skeletal dysplasia 50% Slender long bone 50% Short stature 31% Plexiform neurofibroma 30% Specific learning disability 30% Abnormality of the respiratory system 7.5% Arterial stenosis 7.5% Glaucoma 7.5% Hydrocephalus 7.5% Hypertension 7.5% Hypopigmented skin patches 7.5% Leukemia 7.5% Limitation of joint mobility 7.5% Macrocephaly 7.5% Neoplasm of the gastrointestinal tract 7.5% Neuroendocrine neoplasm 7.5% Precocious puberty 7.5% Sarcoma 7.5% Scoliosis 7.5% Seizures 7.5% Tall stature 7.5% Urinary tract neoplasm 7.5% Visual impairment 7.5% Tibial pseudoarthrosis 4% Aqueductal stenosis 1.5% Genu valgum 1.5% Hypsarrhythmia 1.5% Optic glioma 1.5% Renal artery stenosis 1.5% Spinal neurofibromas 1.5% Meningioma 1% Pheochromocytoma 1% Astrocytoma - Autosomal dominant inheritance - Axillary freckling - Hypertelorism - Inguinal freckling - Intellectual disability, mild - Neurofibrosarcoma - Overgrowth - Parathyroid adenoma - Rhabdomyosarcoma - Spina bifida - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neurofibromatosis type 1 +What causes Neurofibromatosis type 1 ?,"What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.",GARD,Neurofibromatosis type 1 +Is Neurofibromatosis type 1 inherited ?,"How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Neurofibromatosis type 1 +How to diagnose Neurofibromatosis type 1 ?,"Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known.",GARD,Neurofibromatosis type 1 +What are the treatments for Neurofibromatosis type 1 ?,"How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.",GARD,Neurofibromatosis type 1 +What is (are) Lichen sclerosus ?,"Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery.",GARD,Lichen sclerosus +What are the symptoms of Lichen sclerosus ?,"What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common. Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lichen sclerosus +What causes Lichen sclerosus ?,"What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma.",GARD,Lichen sclerosus +What are the treatments for Lichen sclerosus ?,"How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site.",GARD,Lichen sclerosus +"What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ?","What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Autosomal recessive inheritance - B lymphocytopenia - Conjunctivitis - Diarrhea - Failure to thrive - Failure to thrive secondary to recurrent infections - Mastoiditis - Meningitis - Otitis media - Panhypogammaglobulinemia - Pneumonia - Recurrent opportunistic infections - Severe combined immunodeficiency - Severe T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" +What are the symptoms of Spastic paraplegia 15 ?,"What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Peripheral axonal neuropathy 5/9 Retinal degeneration 3/7 Nystagmus 4/10 Ataxia - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Clonus - Distal amyotrophy - Dysarthria - Hypoplasia of the corpus callosum - Intellectual disability - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mood swings - Pes cavus - Phenotypic variability - Progressive - Psychosis - Reduced visual acuity - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 15 +"What are the symptoms of Ossicular Malformations, familial ?","What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the middle ear ossicles - Autosomal dominant inheritance - Congenital conductive hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ossicular Malformations, familial" +What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ?,"What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia autosomal recessive 8 +What is (are) VIPoma ?,"VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). VIPomas are usually diagnosed in adults around age 50. The cause of VIPoma is unknown. Treatment may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor.",GARD,VIPoma +What are the treatments for VIPoma ?,"How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization.",GARD,VIPoma +What are the symptoms of Laurin-Sandrow syndrome ?,"What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia of the thumb 90% Finger syndactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Tarsal synostosis 90% Toe syndactyly 90% Abnormality of the tibia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Limb duplication 50% Limitation of joint mobility 50% Talipes 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Downturned corners of mouth 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Abnormality of the face - Absent radius - Absent tibia - Autosomal dominant inheritance - Broad foot - Fibular duplication - Hand polydactyly - Patellar aplasia - Short foot - Syndactyly - Triphalangeal thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laurin-Sandrow syndrome +What is (are) Pseudohypoparathyroidism type 1C ?,"Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.",GARD,Pseudohypoparathyroidism type 1C +What are the symptoms of Pseudohypoparathyroidism type 1C ?,"What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudohypoparathyroidism type 1C +What is (are) Vohwinkel syndrome ?,"Vohwinkel syndrome is an inherited condition that affects the skin. People with the ""classic form"" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A ""variant form"" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.",GARD,Vohwinkel syndrome +What are the symptoms of Vohwinkel syndrome ?,"What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Abnormality of the genital system 50% Cognitive impairment 50% Abnormality of the toenails 7.5% Alopecia 7.5% Cleft palate 7.5% Ichthyosis 7.5% Osteolysis 7.5% Self-injurious behavior 7.5% Amniotic constriction ring - Autoamputation of digits - Autosomal dominant inheritance - Honeycomb palmoplantar keratoderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vohwinkel syndrome +What is (are) Plasmablastic lymphoma ?,"Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation.",GARD,Plasmablastic lymphoma +What are the symptoms of Blepharoptosis myopia ectopia lentis ?,"What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ectopia lentis 90% Glaucoma 90% Myopia 90% Abnormality of the fingernails 50% Palpebral edema 50% Abnormality of retinal pigmentation 7.5% Abnormality of the helix 7.5% Iris coloboma 7.5% Prominent occiput 7.5% Autosomal dominant inheritance - Congenital ptosis - Increased axial globe length - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Blepharoptosis myopia ectopia lentis +What is (are) Familial dermographism ?,"Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.",GARD,Familial dermographism +What are the symptoms of Familial dermographism ?,"What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dermatographic urticaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial dermographism +What are the symptoms of Oculoectodermal syndrome ?,"What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculoectodermal syndrome +What is (are) Adult-onset Still's disease ?,"Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term ""adult Still's disease"" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications.",GARD,Adult-onset Still's disease +What are the symptoms of Adult-onset Still's disease ?,"What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Hepatomegaly 90% Joint swelling 90% Leukocytosis 90% Pruritus 90% Restrictive lung disease 90% Skin rash 90% Splenomegaly 90% Urticaria 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Mediastinal lymphadenopathy 50% Myalgia 50% Abnormality of lipid metabolism 7.5% Abnormality of the myocardium 7.5% Bone marrow hypocellularity 7.5% Cartilage destruction 7.5% Elevated hepatic transaminases 7.5% Meningitis 7.5% Recurrent pharyngitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adult-onset Still's disease +What causes Adult-onset Still's disease ?,"What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory.",GARD,Adult-onset Still's disease +What is (are) Menetrier disease ?,"Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid). Symptoms usually include vomiting, diarrhea, and weight loss. The disease may increase an individual's risk of developing stomach cancer.",GARD,Menetrier disease +What are the symptoms of Menetrier disease ?,"What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Edema of the lower limbs 90% Nausea and vomiting 90% Anorexia 50% Gastrointestinal hemorrhage 50% Hypoproteinemia 50% Iron deficiency anemia 50% Weight loss 50% Sepsis 7.5% Giant hypertrophic gastritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Menetrier disease +What causes Menetrier disease ?,"What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role.",GARD,Menetrier disease +What are the treatments for Menetrier disease ?,"What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally recommended for those patients who continue to have protein loss or who have signs of pre-cancer or cancer. You can locate additional treatment information by searching PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using ""menetrier disease AND treatment"" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.",GARD,Menetrier disease +"What is (are) Salivary gland cancer, adult ?","Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2]",GARD,"Salivary gland cancer, adult" +What is (are) Myofibrillar myopathy ?,"Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness.",GARD,Myofibrillar myopathy +What are the symptoms of Myofibrillar myopathy ?,"What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myofibrillar myopathy +"What are the symptoms of Hypertrichosis lanuginosa, acquired ?","What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hypertrichosis lanuginosa, acquired" +What are the symptoms of Kohlschutter Tonz syndrome ?,"What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Developmental regression 90% EEG abnormality 90% Hypertonia 90% Seizures 90% Hypohidrosis 50% Hydrocephalus 7.5% Short stature 7.5% Amelogenesis imperfecta - Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Dementia - Epileptic encephalopathy - Hypoplasia of dental enamel - Hypsarrhythmia - Intellectual disability, severe - Spasticity - Variable expressivity - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kohlschutter Tonz syndrome +What are the symptoms of Cataract and cardiomyopathy ?,"What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract and cardiomyopathy +What is (are) Angelman syndrome ?,"Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.",GARD,Angelman syndrome +What are the symptoms of Angelman syndrome ?,"What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tongue 90% Behavioral abnormality 90% Broad-based gait 90% Cerebral cortical atrophy 90% Clumsiness 90% Cognitive impairment 90% EEG abnormality 90% Incoordination 90% Mandibular prognathia 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Sporadic 75% Abnormality of the teeth 50% Hyperreflexia 50% Malar flattening 50% Wide mouth 50% Hernia of the abdominal wall 7.5% Strabismus 7.5% Absent speech - Autosomal dominant inheritance - Blue irides - Brachycephaly - Constipation - Deeply set eye - Drooling - Exotropia - Fair hair - Feeding difficulties in infancy - Flat occiput - Hyperactivity - Hypopigmentation of the skin - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Limb tremor - Macroglossia - Motor delay - Myopia - Nystagmus - Obesity - Paroxysmal bursts of laughter - Progressive gait ataxia - Protruding tongue - Scoliosis - Sleep-wake cycle disturbance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Angelman syndrome +What causes Angelman syndrome ?,"What causes Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. This parent-specific gene activation is known as genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases, Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father, instead of one copy from each parent. This is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The cause of Angelman syndrome is unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the condition in these individuals.",GARD,Angelman syndrome +Is Angelman syndrome inherited ?,"How might Angelman syndrome be inherited? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. In these instances, people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.",GARD,Angelman syndrome +What are the symptoms of Prieto X-linked mental retardation syndrome ?,"What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Gait disturbance 90% Low-set, posteriorly rotated ears 90% Ventriculomegaly 90% Abnormal dermatoglyphics 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the earlobes 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Increased number of teeth 50% Muscular hypotonia 50% Neurological speech impairment 50% Optic atrophy 50% Patellar dislocation 50% Sacral dimple 50% Seizures 50% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Delayed skeletal maturation 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Nystagmus 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% Strabismus 7.5% 11 pairs of ribs - Abnormality of the skin - Abnormality of the teeth - Cerebral atrophy - Clinodactyly - Coxa valga - Inguinal hernia - Intellectual disability - Low-set ears - Osteoporosis - Patellar subluxation - Prominent nose - Radial deviation of finger - Retrognathia - Talipes equinovarus - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Prieto X-linked mental retardation syndrome +What are the symptoms of Okamoto syndrome ?,"What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Okamoto syndrome +What is (are) Hemolytic uremic syndrome ?,"Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis. Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.",GARD,Hemolytic uremic syndrome +What are the symptoms of Hemolytic uremic syndrome ?,"What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemolytic uremic syndrome +What causes Hemolytic uremic syndrome ?,"What causes hemolytic uremic syndrome? Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system. The condition results when the bacteria lodge in the digestive tract and produce toxins that can enter the bloodstream. The toxins travel through the bloodstream and can destroy blood cells, causing acute kidney injury.",GARD,Hemolytic uremic syndrome +What is (are) Hypothalamic dysfunction ?,"Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.",GARD,Hypothalamic dysfunction +What are the symptoms of Hypothalamic dysfunction ?,What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001202.htm,GARD,Hypothalamic dysfunction +What causes Hypothalamic dysfunction ?,"What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.g. anorexia, bulimia) Tumors (e.g. craniopharyngiomas, germinomas, meningiomas, gliomas, ependymomas, and gliomas of the optic nerve) Head trauma (e.g. boxing and varied injuries, birth trauma) Bacterial, viral, or fungal infections Autoimmune disorders (e.g. sarcoidosis) Malnutrition Cranial radiation Surgery Too much iron In some cases of hypothalamic dysfunction, the cause is unknown; these cases are referred to as having idiopathic hypothalamic dysfunction.",GARD,Hypothalamic dysfunction +What are the treatments for Hypothalamic dysfunction ?,"How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation. If the cause is unknown, treatment may be symptomatic. To date, no successful treatment has been reported for idiopathic hypothalamic dysfunction.",GARD,Hypothalamic dysfunction +What are the symptoms of Hyperlipidemia type 3 ?,"What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Angina pectoris - Hypercholesterolemia - Hypertriglyceridemia - Obesity - Peripheral arterial disease - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperlipidemia type 3 +What is (are) Microscopic polyangiitis ?,"Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this disorder is unknown.",GARD,Microscopic polyangiitis +What are the symptoms of Microscopic polyangiitis ?,"What are the signs and symptoms of Microscopic polyangiitis? The symptoms of MPA depend on which blood vessels are involved and what organs in the body are affected. The most common symptoms of MPA include kidney inflammation, weight loss, skin lesions, nerve damage, and fevers. This disorder may occur alone or with other disorders, such as temporal arteritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Microscopic polyangiitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Autoimmunity 90% Glomerulopathy 90% Hematuria 90% Hemoptysis 90% Polyneuropathy 90% Pulmonary embolism 90% Renal insufficiency 90% Skin rash 90% Vasculitis 90% Abdominal pain 50% Arthralgia 50% Diarrhea 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Myalgia 50% Nausea and vomiting 50% Peritonitis 50% Skin ulcer 50% Subcutaneous hemorrhage 50% Thrombophlebitis 50% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Arrhythmia 7.5% Arthritis 7.5% Congestive heart failure 7.5% Cutis marmorata 7.5% Epistaxis 7.5% Gangrene 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Paresthesia 7.5% Sinusitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microscopic polyangiitis +What causes Microscopic polyangiitis ?,"What causes microscopic polyangiitis (MPA)? The cause of MPA is unknown. It is not contagious, does not usually run in families, and is not a form of cancer. The immune system is thought to play a critical role in the development of MPA. It is thought that the immune system becomes overactive and causes blood vessel and tissue inflammation, which leads to organ damage. It is not known what causes the immune system to become overactive.",GARD,Microscopic polyangiitis +What are the treatments for Microscopic polyangiitis ?,"What is the treatment for microscopic polyangiitis (MPA)? MPA is treated with medications that suppress the immune system, which can lower an individual's resistance to infections. There are a variety of immune suppressing medications that are used in MPA; however, resources state that a steroid (usually prednisone) and a medication toxic to cells (usually starting with cyclophosphamide) are typically prescribed first. The goal of treatment is to stop all of the organ damage that occurs as a result of MPA. The duration of treatment with immune suppressing medication varies between individuals, but is typically given for at least one to two years.",GARD,Microscopic polyangiitis +What are the symptoms of Burn-Mckeown syndrome ?,"What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Choanal atresia 90% Hypertelorism 90% Abnormality of the cardiac septa 50% Prominent nasal bridge 50% Abnormality of the palate 7.5% Short nose 7.5% Short stature 7.5% 2-3 toe syndactyly - Abnormality of metabolism/homeostasis - Atria septal defect - Autosomal recessive inheritance - Bifid uvula - Bilateral choanal atresia/stenosis - Cleft palate - Cleft upper lip - Conductive hearing impairment - Feeding difficulties in infancy - Hypomimic face - Lower eyelid coloboma - Mandibular prognathia - Narrow mouth - Preauricular skin tag - Protruding ear - Renal hypoplasia - Short palpebral fissure - Short philtrum - Thin vermilion border - Underdeveloped nasal alae - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Burn-Mckeown syndrome +What are the symptoms of Partial atrioventricular canal ?,"What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congestive heart failure - Cyanosis - First degree atrioventricular block - Inlet ventricular septal defect - Primum atrial septal defect - Pulmonary hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Partial atrioventricular canal +What are the symptoms of Microsomia hemifacial radial defects ?,"What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microsomia hemifacial radial defects +What is (are) Persistent genital arousal disorder ?,"Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive sexual dysfunction associated with excessive and unremitting genital arousal and engorgement in the absence of sexual interest. The persistent genital arousal usually does not resolve with orgasm and causes personal distress. Features include excessive excitement or excessive genital (lubrication, swelling, and engorgement) or other somatic responses. Causes may be neurological (central or peripheral involving the pudendal nerve), related to medication, vascular, hormonal, psychological or others. Diagnosis of the cause is essential for an adequate patient management. The treatment may include avoiding offending medications, using medications that stabilize nerve transmission and/or effect mood, local topical anesthetic agents, ice and hormonal replacement. More recently PGAD has being described as one component of a broader Restless Genital Syndrome if the PGAD was also associated with urinary frequency/urgency and restless leg syndrome.",GARD,Persistent genital arousal disorder +What are the symptoms of Hydrocephalus obesity hypogonadism ?,"What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Cryptorchidism 90% Hydrocephalus 90% Hypoplasia of penis 90% Obesity 90% Short stature 90% Respiratory insufficiency 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hydrocephalus obesity hypogonadism +What is (are) Holt-Oram syndrome ?,"Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition.",GARD,Holt-Oram syndrome +What are the symptoms of Holt-Oram syndrome ?,"What are the signs and symptoms of Holt-Oram syndrome? People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present. Additional bone abnormalities may also be present, such as a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. About 75% of affected people have heart problems, which can be life-threatening. The most common problems are an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some people have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome but these two disorders are caused by mutations in different genes. The Human Phenotype Ontology provides the following list of signs and symptoms for Holt-Oram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Arrhythmia 50% Atria septal defect 50% Triphalangeal thumb 50% Ventricular septal defect 50% Hypoplasia of the radius 37.8% Phocomelia 11% Abnormality of the aorta 7.5% Abnormality of the humerus 7.5% Abnormality of the ribs 7.5% Abnormality of the shoulder 7.5% Abnormality of the sternum 7.5% Anomalous pulmonary venous return 7.5% Aplasia of the pectoralis major muscle 7.5% Complete atrioventricular canal defect 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Thoracic scoliosis 7.5% Abnormality of the carpal bones - Abnormality of the vertebrae - Absent thumb - Autosomal dominant inheritance - Partial duplication of thumb phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Holt-Oram syndrome +What causes Holt-Oram syndrome ?,"What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four chambers, and in regulating the development of bones in the arms and hands. When the TBX5 gene doesn't function properly, the features of Holt-Oram syndrome result. In some cases the mutation occurs for the first time in an affected person, while in other cases the mutation is inherited from a parent. However, in both of these cases, there is nothing a parent can do to cause this mutation or condition in a child.",GARD,Holt-Oram syndrome +Is Holt-Oram syndrome inherited ?,"How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. When a mutation occurs for the first time, it is called a de novo mutation. This is what typically occurs when there is no family history of the condition. A de novo mutation is due to a random change in the DNA in an egg or sperm cell, or right after conception. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. In these cases, the symptoms and severity can differ from those of the affected parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the condition.",GARD,Holt-Oram syndrome +How to diagnose Holt-Oram syndrome ?,"How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this condition and/or cogenital heart malformations is also used as a diagnostic tool as a congenital heart malformation is present in 75% of individuals with Holt-Oram syndrome. An echocardiogram and electrocardiogram can be used to determine the presence and severity of heart defects and/or cardiac conduction disease. Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.",GARD,Holt-Oram syndrome +What are the treatments for Holt-Oram syndrome ?,"How might Holt-Oram syndrome be treated? The treatment of Holt-Oram syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists such as pediatricians, surgeons, cardiologists, orthopedists, and/or other health care professionals. Depending upon the severity of any upper limb abnormalities, treatment may consist of corrective or reconstructive surgery, the use of artificial replacements for portions of the forearms and hands (limb prosthetics), and/or physical therapy to help individuals enhance their motor skills. In those with mild cardiac conduction abnormalities, treatment may not be required. In more severe cases, an artificial pacemaker may be used. An artificial pacemaker overrides the heart's impaired electrical conducting system by sending electrical impulses to the heart that keep the heartbeat at a regular rate. Heart abnormalities may also be treated with certain medications, surgery, and/or other techniques. In such cases, the surgical procedures performed will depend upon the location and severity of the abnormalities and their associated symptoms. Affected individuals with heart defects may also be at risk for bacterial infection and inflammation of the lining of the heart's chambers and valves (endocarditis). So antibiotics should be prescribed before any surgical procedure, including dental procedures such as tooth extractions. In addition, because some individuals with certain heart defects may be susceptible to repeated respiratory infections, physicians may closely monitor such individuals to take preventive steps and to institute antibiotic and/or other appropriate therapies should such infections occur. Early intervention is important to ensure that children with Holt-Oram syndrome reach their potential. Special services that may be beneficial to affected children may include physical therapy and/or other medical, social, and/or vocational services.",GARD,Holt-Oram syndrome +What are the symptoms of Costocoracoid ligament congenitally short ?,"What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Costocoracoid ligament congenitally short +What is (are) Cap myopathy ?,"Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,Cap myopathy +What are the symptoms of Cone-rod dystrophy 6 ?,"What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone-rod dystrophy 6 +What are the symptoms of Absent patella ?,"What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Absent patella +What are the symptoms of Sener syndrome ?,"What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteriorly placed anus - Chronic diarrhea - Coarse hair - Delayed eruption of permanent teeth - Eczema - Entropion - High palate - Hyperopic astigmatism - Hypertelorism - Hypodontia - Hypoplasia of the corpus callosum - Inguinal hernia - Micropenis - Microtia - Natal tooth - Patent ductus arteriosus - Perivascular spaces - Polyhydramnios - Posteriorly rotated ears - Smooth philtrum - Sporadic - Umbilical hernia - Wide anterior fontanel - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sener syndrome +What is (are) Combined oxidative phosphorylation deficiency 16 ?,"Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease. It is caused by mutations in the MRPL44 gene, which results in mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern. Treatment is supportive.",GARD,Combined oxidative phosphorylation deficiency 16 +What are the symptoms of Combined oxidative phosphorylation deficiency 16 ?,"What are the signs and symptoms of Combined oxidative phosphorylation deficiency 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined oxidative phosphorylation deficiency 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Elevated hepatic transaminases - Hypertrophic cardiomyopathy - Increased serum lactate - Infantile onset - Microvesicular hepatic steatosis - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Combined oxidative phosphorylation deficiency 16 +What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ?,"What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Macrocephaly mesodermal hamartoma spectrum +What is (are) Hermansky-Pudlak syndrome ?,"Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion. Treatment is symptomatic and supportive. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9.",GARD,Hermansky-Pudlak syndrome +What are the symptoms of Hermansky-Pudlak syndrome ?,"What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Generalized hypopigmentation 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Abnormality of the menstrual cycle 50% Abnormality of visual evoked potentials 50% Astigmatism 50% Bruising susceptibility 50% Cataract 50% Epistaxis 50% Hypopigmentation of hair 50% Myopia 50% Optic atrophy 50% Photophobia 50% Pulmonary fibrosis 50% Renal insufficiency 50% Strabismus 50% Abdominal pain 7.5% Abnormality of dental enamel 7.5% Abnormality of neutrophils 7.5% Abnormality of the eyelashes 7.5% Abnormality of thrombocytes 7.5% Gastrointestinal hemorrhage 7.5% Hyperkeratosis 7.5% Hypertrophic cardiomyopathy 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Melanocytic nevus 7.5% Neoplasm of the skin 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Abnormality of the hair - Albinism - Autosomal recessive inheritance - Cardiomyopathy - Freckles in sun-exposed areas - Freckling - Gingival bleeding - Hematochezia - Heterogeneous - Prolonged bleeding time - Restrictive lung disease - Severe visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hermansky-Pudlak syndrome +"What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ?","What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Foot dorsiflexor weakness - Peroneal muscle atrophy - Scapuloperoneal weakness - Shoulder girdle muscle atrophy - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Scapuloperoneal syndrome, neurogenic, Kaeser type" +What is (are) LEOPARD syndrome ?,"LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss. There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Some cases are inherited from a parent in an autosomal dominant pattern. Other times, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.",GARD,LEOPARD syndrome +What are the symptoms of LEOPARD syndrome ?,"What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,LEOPARD syndrome +What is (are) Progressive bulbar palsy ?,"Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.",GARD,Progressive bulbar palsy +How to diagnose Progressive bulbar palsy ?,"How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis. Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: http://www.alsa.org/community/als-clinics",GARD,Progressive bulbar palsy +What are the treatments for Progressive bulbar palsy ?,"How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: http://www.alscenter.org/living_with_als/treatment.html The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/treatment/con-20024397 If you are interested in learning about clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222. Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research. You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.",GARD,Progressive bulbar palsy +What is (are) Pigment-dispersion syndrome ?,"Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.",GARD,Pigment-dispersion syndrome +What is (are) Noonan-like syndrome with loose anagen hair ?,"Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.",GARD,Noonan-like syndrome with loose anagen hair +What are the symptoms of Noonan-like syndrome with loose anagen hair ?,"What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Delayed skeletal maturation 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Short nose 90% Short stature 90% Webbed neck 90% Abnormality of the pulmonary artery 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Deep philtrum 50% Epicanthus 50% Hydrocephalus 50% Hypertrophic cardiomyopathy 50% Macrotia 50% Pectus excavatum 50% Abnormality of the elbow 7.5% Abnormality of the fingernails 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the palate 7.5% Brachydactyly syndrome 7.5% Carious teeth 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Hypoplastic toenails 7.5% Thick lower lip vermilion 7.5% Thin vermilion border 7.5% Eczema 5% Ichthyosis 5% Nasal speech 5% Atria septal defect - Autosomal dominant inheritance - Hyperactivity - Intellectual disability - Loose anagen hair - Low-set ears - Macrocephaly - Posteriorly rotated ears - Prominent forehead - Pulmonic stenosis - Short neck - Sparse scalp hair - Strabismus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan-like syndrome with loose anagen hair +What is (are) Porokeratosis of Mibelli ?,"Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.",GARD,Porokeratosis of Mibelli +What are the symptoms of Porokeratosis of Mibelli ?,"What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 33% Abnormality of chromosome stability - Autosomal dominant inheritance - Middle age onset - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Porokeratosis of Mibelli +What are the treatments for Porokeratosis of Mibelli ?,"How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed. Imiquimod cream has been found to be an effective treatment, as has 5-fluorouracil cream. A group of medications called retinoids (including acitretin and isotretinoin), as a pill or cream, may be another treatment option. If a skin cancer develops from porokeratosis of Mibelli, surgery is recommended.",GARD,Porokeratosis of Mibelli +What is (are) Hartnup disease ?,"Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. In some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated.",GARD,Hartnup disease +What are the symptoms of Hartnup disease ?,"What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following: Skin findings: sensitivity to sunlight Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia Psychiatric symptoms: anxiety, emotional instability, mood changes Ocular findings: double vision, nystagmus, strabismus, photophobia Symptoms may be triggered by sunlight exposure, fever, drugs, and emotional or physical stress. The episodes of skin and neurologic findings may last for 1-4 weeks before spontaneous remission occurs. The Human Phenotype Ontology provides the following list of signs and symptoms for Hartnup disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% EEG abnormality 90% Hallucinations 90% Hyperreflexia 90% Incoordination 90% Migraine 90% Muscular hypotonia 90% Malabsorption 50% Nystagmus 50% Photophobia 50% Short stature 50% Skin rash 50% Strabismus 50% Abnormal blistering of the skin 7.5% Cognitive impairment 7.5% Encephalitis 7.5% Gingivitis 7.5% Glossitis 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Seizures 7.5% Autosomal recessive inheritance - Emotional lability - Episodic ataxia - Hypertonia - Neutral hyperaminoaciduria - Psychosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hartnup disease +"What are the symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type ?","What are the signs and symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism intellectual disability syndrome, Verloes type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nipple 90% Cognitive impairment 90% Deeply set eye 90% Downturned corners of mouth 90% Genu valgum 90% Hypoplasia of penis 90% Kyphosis 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Reduced bone mineral density 90% Scrotal hypoplasia 90% Short neck 90% Short nose 90% Short philtrum 90% Short thorax 90% Spina bifida occulta 90% Synophrys 90% Thin vermilion border 90% Absent speech - Bilateral microphthalmos - Cervical spina bifida - Chorioretinal coloboma - Coarse facial features - Intellectual disability - Male pseudohermaphroditism - Obesity - Postnatal growth retardation - Severe sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Male pseudohermaphroditism intellectual disability syndrome, Verloes type" +What is (are) Bilateral generalized polymicrogyria ?,"Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.",GARD,Bilateral generalized polymicrogyria +What is (are) Multisystemic smooth muscle dysfunction syndrome ?,"Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals.",GARD,Multisystemic smooth muscle dysfunction syndrome +What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ?,"What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems Weak bladder Lung disease White matter abnormalities Changes consistent with MoyaMoya disease The Human Phenotype Ontology provides the following list of signs and symptoms for Multisystemic smooth muscle dysfunction syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebral aneurysm - Cryptorchidism - Hyperperistalsis - Intestinal malrotation - Mydriasis - Patent ductus arteriosus - Pulmonary hypertension - Retinal infarction - Tachypnea - Thoracic aortic aneurysm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multisystemic smooth muscle dysfunction syndrome +What is (are) Osteopetrosis autosomal dominant type 1 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal dominant type 1 +What are the symptoms of Osteopetrosis autosomal dominant type 1 ?,"What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral column - Autosomal dominant inheritance - Conductive hearing impairment - Generalized osteosclerosis - Headache - Osteopetrosis - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal dominant type 1 +"What are the symptoms of Welander distal myopathy, Swedish type ?","What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Distal amyotrophy - Distal muscle weakness - Mildly elevated creatine phosphokinase - Rimmed vacuoles - Slow progression - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Welander distal myopathy, Swedish type" +What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ?,"What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic CD4 positive T-lymphocytopenia +What are the symptoms of Charcot-Marie-Tooth disease type 2H ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Autosomal recessive inheritance - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hyperactive patellar reflex - Hyperreflexia in upper limbs - Juvenile onset - Pes cavus - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2H +What is (are) Pityriasis rubra pilaris ?,"Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited.",GARD,Pityriasis rubra pilaris +What are the symptoms of Pityriasis rubra pilaris ?,"What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of the palms and soles. Overall, the elbows, knees, backs of the hands and feet, and ankles are most commonly affected. A more widespread eruption consisting of scaling orange-red plaques can be observed on the trunk and extremities. The lesions may expand and coalesce and eventually cover the entire body. When the disease becomes widespread, the nails, mucous membranes and eyes may be affected. The familial type often persists throughout life, but the acquired form may have periods of remission (periods of time where symptoms improve or completely resolve). The Human Phenotype Ontology provides the following list of signs and symptoms for Pityriasis rubra pilaris. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Abnormality of the fingernails 50% Pruritus 50% Abnormality of the oral cavity 7.5% Eczema 7.5% Ichthyosis 7.5% Lichenification 7.5% Neoplasm 7.5% Pustule 7.5% Autosomal dominant inheritance - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pityriasis rubra pilaris +What causes Pityriasis rubra pilaris ?,"What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins that regulate genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct. The CARD14 protein is particularly abundant in the skin. Mutations in the gene can cause a person to have an abnormal inflammatory response. Researchers are trying to find out how these mutations cause the specific features of familial PRP.",GARD,Pityriasis rubra pilaris +What are the treatments for Pityriasis rubra pilaris ?,"How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP. Management of PRP often involves systemic and topical therapies combined. Topical therapies can help with the symptoms and may be enough for people with mild PRP. Topical treatments are usually combined with systemic therapy for PRP that affects a large part of the body. Most people need systemic therapy to control the condition. Oral retinoids (synthetic vitamin A derivatives) are usually preferred as a first-line systemic treatment for PRP. Methotrexate may be an alternative option for people who should not use systemic retinoids, or who don't respond to systemic retinoid therapy. For people who don't respond well to retinoid or methotrexate therapy, options may include biologic TNF-alpha inhibitors, azathioprine, cyclosporine, and/or phototherapy. Topical treatments used for PRP may include topical corticosteroids, keratolytics, tar, calcipotriol, topical tretinoin, and tazarotene. Some of the medications used to treat PRP can harm a developing fetus and are not recommended for use right before or during pregnancy. People seeking information about specific treatment options for themselves or family members should speak with their health care provider.",GARD,Pityriasis rubra pilaris +What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ?,"What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cardiomyopathy dilated with woolly hair and keratoderma +What is (are) Hemangioendothelioma ?,"The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show ""borderline"" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite. Treatment depends on the type of hemangioendothelioma present but typically includes surgical excision (removal).",GARD,Hemangioendothelioma +What are the treatments for Hemangioendothelioma ?,"How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. For spindle cell hemangioma, simple excision is reportedly curative; however, new growths develop in adjacent skin and soft tissues in 60% of affected individuals. For individuals with papillary intralymphatic angioendothelioma (PILA), excision of the involved lymph nodes, as well as the mass, has been recommended. Surgical excision is reportedly also the usual treatment for individuals with retiform hemangioendothelioma (although local recurrence with this type is common), epithelioid hemangioendothelioma, and composite hemangioendothelioma (with the exception of 1 case treated with interferon). Most individuals with pseudomyogenic hemangioendothelioma have been treated with simple excision, but a few individuals have also received post-surgical radiotherapy (RT). With regard to kaposiform hemangioendothelioma, some large lesions cannot be completely removed and may cause fatal complications due to the associated KasabachMerritt syndrome. In these cases, several medical therapies have been used, including systemic corticosteroids; alfa interferon; RT; embolization; and several other therapies, both alone and in various combinations. A study by Scott et al published in 2012 in the American Journal of Clinical Oncology evaluated the effectiveness of RT as either an alternative or adjunct to surgery. The authors stated that the effectiveness of definitive RT in the treatment of hemangioendothelioma in their study implies that radiation may be an acceptable alternative when surgical resection will compromise function or cosmetic result. They concluded that with no local recurrences and minimal risk of toxicity, their long-term data suggest that RT offers a highly effective management option for this disease.",GARD,Hemangioendothelioma +What are the symptoms of Spastic paraplegia neuropathy poikiloderma ?,"What are the signs and symptoms of Spastic paraplegia neuropathy poikiloderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia neuropathy poikiloderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Aplasia/Hypoplasia of the skin 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Irregular hyperpigmentation 90% Skeletal muscle atrophy 90% Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Demyelinating motor neuropathy - Demyelinating sensory neuropathy - Distal amyotrophy - Onion bulb formation - Poikiloderma - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia neuropathy poikiloderma +"What are the symptoms of Immotile cilia syndrome, due to defective radial spokes ?","What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent respiratory ciliary axoneme radial spokes - Autosomal recessive inheritance - Chronic rhinitis - Ciliary dyskinesia - Immotile cilia - Nasal polyposis - Nonmotile sperm - Sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Immotile cilia syndrome, due to defective radial spokes" +"What are the symptoms of Hemangiomatosis, familial pulmonary capillary ?","What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cough - Dyspnea - Pulmonary capillary hemangiomatosis - Pulmonary hypertension - Pulmonary venoocclusive disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hemangiomatosis, familial pulmonary capillary" +What is (are) Retroperitoneal fibrosis ?,"Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs are blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause chronic unilateral obstructive uropathy or chronic bilateral obstructive uropathy. Risk factors for retroperitoneal fibrosis include asbestos exposure, smoking, tumor, infection, trauma, radiotherapy, surgery, and use of certain drugs.",GARD,Retroperitoneal fibrosis +What are the symptoms of Retroperitoneal fibrosis ?,"What are the symptoms of retroperitoneal fibrosis? Early symptoms of retroperitoneal fibrosis may include: Dull pain in the abdomen that increases with time Swelling of one leg Decreased circulation in the legs leading to pain and discoloration Late symptoms of retroperitoneal fibrosis may include: Decreased urine output Total lack of urine (anuria) Nausea, vomiting, changes in thinking caused by kidney failure and the resulting build-up of toxic chemicals in the blood. Severe abdominal pain with hemorrhage due to ischemic bowel",GARD,Retroperitoneal fibrosis +What causes Retroperitoneal fibrosis ?,"What causes retroperitoneal fibrosis? The cause of retroperitoneal fibrosis is unknown in many cases (idiopathic). Some cases occur in association with other factors, including: Asbestos exposure Smoking Neoplasms (tumor) Infections Trauma Radiotherapy Surgery Use of certain drugs",GARD,Retroperitoneal fibrosis +What are the treatments for Retroperitoneal fibrosis ?,"How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly. Some people with retroperitoneal fibrosis may continue on low dose maintenance therapy for up to 2 years. If corticosteroid treatment doesn't work, a biopsy should be done to confirm the diagnosis. Other medicines to suppress the immune system, such as mycophenolate mofetil, methotrexate, azathioprine, cyclophosphamide or tamoxifen can be prescribed alone or in combination with corticosteroids. When medicine does not work, surgery and stents (draining tubes) are considered. Stents (drainage tubes) placed in the ureter or in the renal pelvis may provide short-term relief of the symptoms until the condition is surgically treated. Surgery aims to remove the mass and/or free the ureters.",GARD,Retroperitoneal fibrosis +"What are the symptoms of Ichthyosis, acquired ?","What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Ichthyosis 90% Pruritus 90% Immunologic hypersensitivity 50% Palmoplantar keratoderma 50% Skin ulcer 50% Autoimmunity 7.5% Lymphoma 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Sarcoma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ichthyosis, acquired" +What are the symptoms of Infantile axonal neuropathy ?,"What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Facial palsy 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Neurological speech impairment 90% Optic atrophy 90% Abnormality of movement 50% Hypertonia 50% Incoordination 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Hypothyroidism 7.5% Seizures 7.5% Type I diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infantile axonal neuropathy +What is (are) Punctate inner choroidopathy ?,"Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision. The majority of cases are self-limited with good visual prognosis, but permanent and severe visual loss can occur as a result of the development of choroidal neovascular membranes (CNV). The cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors. The majority of affected individuals who do not have CNV do not require treatment; for others, treatment may include medication, laser photocoagulation, photodynamic therapy (treatment with drugs that become active when exposed to light) and/or surgery.",GARD,Punctate inner choroidopathy +What are the symptoms of Dopamine beta hydroxylase deficiency ?,"What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - High palate - Neonatal hypoglycemia - Nocturia - Orthostatic hypotension - Ptosis - Retrograde ejaculation - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dopamine beta hydroxylase deficiency +What is (are) Light chain deposition disease ?,"Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant.",GARD,Light chain deposition disease +Is Light chain deposition disease inherited ?,"Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic.com Website. Multiple myeloma risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors Monoclonal gammopathy of undetermined significance risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors",GARD,Light chain deposition disease +What are the symptoms of Gestational trophoblastic tumor ?,"What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Spontaneous abortion 90% Neoplasm of the liver 50% Neoplasm of the lung 50% Neoplasm of the nervous system 50% Renal neoplasm 50% Vaginal neoplasm 50% Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gestational trophoblastic tumor +What is (are) Neuroblastoma ?,"Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5. It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell. It affects one out of 100,000 children. The exact cause of this tumor is not yet known. Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy. Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.",GARD,Neuroblastoma +What are the symptoms of Neuroblastoma ?,"What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the nervous system 90% Abdominal pain - Abnormality of the thorax - Anemia - Ataxia - Autosomal dominant inheritance - Bone pain - Diarrhea - Elevated urinary dopamine - Elevated urinary homovanillic acid - Elevated urinary vanillylmandelic acid - Failure to thrive - Fever - Ganglioneuroblastoma - Ganglioneuroma - Heterogeneous - Horner syndrome - Hypertension - Incomplete penetrance - Myoclonus - Neuroblastoma - Opsoclonus - Skin nodule - Spinal cord compression - Sporadic - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuroblastoma +What is (are) Friedreich ataxia ?,"Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.",GARD,Friedreich ataxia +What are the symptoms of Friedreich ataxia ?,"What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Over time, muscles begin to weaken and waste away, especially in the feet, lower legs, and hands, and deformities develop. Other symptoms include loss of tendon reflexes, especially in the knees and ankles. There is often a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is easily fatigued. Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight. The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies. The Human Phenotype Ontology provides the following list of signs and symptoms for Friedreich ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual impairment 5% Abnormal echocardiogram - Abnormal EKG - Abnormality of visual evoked potentials - Areflexia of lower limbs - Autosomal recessive inheritance - Babinski sign - Congestive heart failure - Decreased amplitude of sensory action potentials - Decreased pyruvate carboxylase activity - Decreased sensory nerve conduction velocity - Diabetes mellitus - Dysarthria - Gait ataxia - Hypertrophic cardiomyopathy - Impaired proprioception - Juvenile onset - Limb ataxia - Mitochondrial malic enzyme reduced - Nystagmus - Optic atrophy - Pes cavus - Scoliosis - Sensory neuropathy - Visual field defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Friedreich ataxia +What causes Friedreich ataxia ?,"What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.",GARD,Friedreich ataxia +Is Friedreich ataxia inherited ?,"How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Friedreich ataxia +What are the symptoms of Chylomicron retention disease ?,"What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the eye - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Growth delay - Hypoalbuminemia - Hypobetalipoproteinemia - Hypocholesterolemia - Infantile onset - Intellectual disability - Malnutrition - Steatorrhea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chylomicron retention disease +What are the symptoms of COASY Protein-Associated Neurodegeneration ?,"What are the signs and symptoms of COASY Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for COASY Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pes cavus 5% Autosomal recessive inheritance - Bradykinesia - Developmental regression - Distal amyotrophy - Dysarthria - Hyporeflexia - Mental deterioration - Motor axonal neuropathy - Neurodegeneration - Obsessive-compulsive behavior - Oromandibular dystonia - Progressive - Rigidity - Spastic paraparesis - Spastic tetraplegia - Toe walking - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,COASY Protein-Associated Neurodegeneration +What is (are) Aicardi-Goutieres syndrome type 3 ?,"Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.",GARD,Aicardi-Goutieres syndrome type 3 +What are the symptoms of Aicardi-Goutieres syndrome type 3 ?,"What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral calcification - CSF lymphocytic pleiocytosis - Death in childhood - Delayed myelination - Dystonia - Elevated hepatic transaminases - Encephalopathy - Hepatosplenomegaly - Hyperreflexia - Hypoplasia of the corpus callosum - Muscular hypotonia - Nystagmus - Progressive microcephaly - Severe global developmental delay - Spasticity - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aicardi-Goutieres syndrome type 3 +"What are the symptoms of Tuberous sclerosis, type 2 ?","What are the signs and symptoms of Tuberous sclerosis, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Tuberous sclerosis, type 2" +What is (are) Fallopian tube cancer ?,"Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of the different cell types that make up the fallopian tubes. The most common type is called adenocarcinoma (a cancer of cells from glands). Leiomyosarcoma (a cancer of smooth muscle cells) and transitional cell carcinoma (a cancer of the cells lining the fallopian tubes) are more rare. While some fallopian tube cancers actually begin in the tubes themselves, fallopian tube cancer is more often the result of cancer spreading from other parts of the body to the tubes. For example, the fallopian tubes are a common site of metastasis (spread) of cancers that started in the ovaries, uterus, endometrium, (the tissue lining the uterus) appendix, or colon. Women with fallopian tube cancer may experience symptoms, although some affected women may have no symptoms at all. The signs of fallopian tube cancer are often non-specific, meaning that they can also be signs of other medical conditions that are not cancer. Signs and symptoms of fallopian tube cancer can include: irregular or heavy vaginal bleeding (especially after menopause); occasional abdominal or pelvic pain or feeling of pressure; vaginal discharge that may be clear, white, or tinged with blood; and a pelvic mass or lump. Doctors use many tests to diagnose cancer of the fallopian tubes. Some of these tests may include: pelvic examination, transvaginal ultrasound, a blood test that measures the tumor marker CA-125, computed tomography (CT or CAT) scan, and magnetic resonance imaging (MRI). Fallopian tube cancer can be best treated when detected early. If the cancer has spread to the walls of the tubes or outside of the tubes, then there is a lower chance that the disease can be treated successfully. The stage of the cancer determines the type of treatment needed. Most women will need surgery and some will go on to have chemotherapy and/or radiation therapy. [1] [2]",GARD,Fallopian tube cancer +What are the symptoms of Progressive supranuclear palsy atypical ?,"What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Adult onset - Dementia - Kyphoscoliosis - Morphological abnormality of the pyramidal tract - Ophthalmoparesis - Parkinsonism - Rigidity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive supranuclear palsy atypical +What are the symptoms of Juvenile myelomonocytic leukemia ?,"What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Juvenile myelomonocytic leukemia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile myelomonocytic leukemia +What are the symptoms of Radial ray hypoplasia choanal atresia ?,"What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia of the thumb 90% Depressed nasal bridge 90% Strabismus 90% Triphalangeal thumb 90% Abnormality of the skin 50% Abnormality of the wrist 50% Brachydactyly syndrome 50% Choanal atresia 50% Autosomal dominant inheritance - Choanal stenosis - Distally placed thumb - Esotropia - Hypoplasia of the radius - Short thumb - Small thenar eminence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Radial ray hypoplasia choanal atresia +What are the symptoms of Fukuyama type muscular dystrophy ?,"What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exaggerated startle response 5% Holoprosencephaly 5% Retinal dysplasia 5% Agenesis of corpus callosum - Areflexia - Atria septal defect - Autosomal recessive inheritance - Calf muscle hypertrophy - Cataract - Cerebellar cyst - Cerebellar hypoplasia - Congenital muscular dystrophy - Elevated serum creatine phosphokinase - Encephalocele - Flexion contracture - Hydrocephalus - Hypermetropia - Hypoplasia of the brainstem - Hypoplasia of the pyramidal tract - Infantile onset - Intellectual disability - Microphthalmia - Muscle weakness - Muscular hypotonia - Myocardial fibrosis - Myopia - Optic atrophy - Pachygyria - Polymicrogyria - Pulmonic stenosis - Respiratory insufficiency - Retinal detachment - Scoliosis - Seizures - Skeletal muscle atrophy - Spinal rigidity - Strabismus - Transposition of the great arteries - Type II lissencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fukuyama type muscular dystrophy +What is (are) Adenylosuccinase deficiency ?,"Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and movement, autistic features, epilepsy, muscle wasting, and feeding problems. Although less common, abnormal physical features can include severe growth failure, small head, abnormally shaped head, strabismus, small nose with upturned nostrils, thin upper lip, and low set ears. Adenylosuccinase deficiency is caused by mutations in the ADSL gene and is inherited in an autosomal recessive fashion.",GARD,Adenylosuccinase deficiency +What are the symptoms of Adenylosuccinase deficiency ?,"What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition. Some of the neurological symptoms include floppiness (hypotonia) with severe tension of the hands and feet (hypertonia); muscle wasting; muscle twitchings of the tongue or hands and feet; and crossed eyes (strabismus). Almost all affected individuals experience delayed motor milestones ranging from mild to severe. In the first years of life, growth delay has been observed in 30 percent of affected individuals, mainly related to feeding problems. Autism has been found to be present in one-third of cases. Some children display unusual behavior such as stereotyped behavior, (hand washing movements, repetitive manipulation of toys, grimacing, clapping hands, rubbing feet, and inappropriate laughter), aggressive behavior, temper tantrums, impulsivity, hyperactivity, short attention span, and hypersensitivity to noise and lights. Many patients show severe intellectual disability, and language delay. The Human Phenotype Ontology provides the following list of signs and symptoms for Adenylosuccinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Happy demeanor 5% Microcephaly 5% Aggressive behavior - Anteverted nares - Autism - Autosomal recessive inheritance - Brachycephaly - Brisk reflexes - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Delayed speech and language development - Gait ataxia - Growth delay - Hyperactivity - Inability to walk - Inappropriate laughter - Infantile onset - Intellectual disability - Long philtrum - Low-set ears - Muscular hypotonia - Myoclonus - Nystagmus - Opisthotonus - Poor eye contact - Prominent metopic ridge - Seizures - Self-mutilation - Severe global developmental delay - Short nose - Skeletal muscle atrophy - Smooth philtrum - Strabismus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adenylosuccinase deficiency +What are the treatments for Adenylosuccinase deficiency ?,"How might adenylosuccinase deficiency be treated? At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features.",GARD,Adenylosuccinase deficiency +What is (are) Hypokalemic periodic paralysis ?,"Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes which are inherited in an autosomal dominant fashion. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. In these cases, the cause of the condition is unknown. Paralytic crises can be treated with oral or IV potassium. Other management includes prevention of crises and support of specific symptoms.",GARD,Hypokalemic periodic paralysis +What are the symptoms of Hypokalemic periodic paralysis ?,"What are the signs and symptoms of Hypokalemic periodic paralysis? Hypokalemic periodic paralysis involves attacks of muscle weakness or loss of muscle movement (paralysis) that come and go. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles of the eyes and those that help you breathe and swallow may also be affected. There is normal muscle strength between attacks. Attacks usually begin in adolescence, but they can occur before age 10. How often the attacks occur varies. Some people have attacks every day, while others have them once a year. Episodes of muscle weakness usually last between a few hours and a day. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal, alcohol, or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life. People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypokalemic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 7.5% Autosomal dominant inheritance - Episodic flaccid weakness - Hypokalemia - Incomplete penetrance - Periodic hyperkalemic paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypokalemic periodic paralysis +What causes Hypokalemic periodic paralysis ?,"What causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions. Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels cannot properly regulate the flow of ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.",GARD,Hypokalemic periodic paralysis +Is Hypokalemic periodic paralysis inherited ?,"How is hypokalemic periodic paralysis inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GARD,Hypokalemic periodic paralysis +How to diagnose Hypokalemic periodic paralysis ?,"How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. Affected individuals typically have a family history consistent with autosomal dominant inheritance. Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. See below for a list of online resources that can assist you in locating a genetics professional near you.",GARD,Hypokalemic periodic paralysis +What are the symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ?,"What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lower motor neuron morphology - Ataxia - Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dementia - Distal amyotrophy - Distal muscle weakness - Dysarthria - Elevated serum creatine phosphokinase - Emotional lability - Gait disturbance - Hyperreflexia - Hyporeflexia - Impulsivity - Lewy bodies - Neurodegeneration - Optic atrophy - Oromandibular dystonia - Parkinsonism - Pes cavus - Phenotypic variability - Progressive - Progressive visual loss - Scapular winging - Spasticity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial Membrane Protein-Associated Neurodegeneration +What are the symptoms of Limb-girdle muscular dystrophy type 2E ?,"What are the signs and symptoms of Limb-girdle muscular dystrophy type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 5% Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Juvenile onset - Limb-girdle muscle weakness - Muscular dystrophy - Pelvic girdle muscle atrophy - Proximal amyotrophy - Scapular winging - Shoulder girdle muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb-girdle muscular dystrophy type 2E +What are the symptoms of Spastic paraplegia 51 ?,"What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 51 +What is (are) Herpes zoster oticus ?,"Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus to facial nerves and can cause intense ear pain; a rash around the ear, mouth, face, neck, and scalp; and paralysis of the face. Other symptoms may include hearing loss, vertigo (feeling that the room is spinning), tinnitus (hearing abnormal sounds), loss of taste in the tongue, and dry mouth and eyes. Some cases of herpes zoster oticus do not require treatment, but when treatment is needed, pain medications, antiviral drugs or corticosteroids may be prescribed. Vertigo is sometimes treated with medication as well. The prognosis of herpes zoster oticus is typically good but in some cases, hearing loss or facial paralysis may be permanent.",GARD,Herpes zoster oticus +What are the treatments for Herpes zoster oticus ?,"How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. Strong pain medications may be prescribed if the pain continues. An eye patch may be recommended to prevent injury to the cornea (corneal abrasion) and damage to the eye if it does not close completely. Vertigo (feeling that the room is spinning) and dizziness may be treated with other medications.",GARD,Herpes zoster oticus +What are the symptoms of Benign familial neonatal-infantile seizures ?,"What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bilateral convulsive seizures - Cyanosis - Dialeptic seizures - Focal seizures - Focal seizures, afebril - Normal interictal EEG - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Benign familial neonatal-infantile seizures +What is (are) Lipoid proteinosis of Urbach and Wiethe ?,"Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person.",GARD,Lipoid proteinosis of Urbach and Wiethe +What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ?,"What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eye 90% Abnormality of the voice 90% Acne 90% Atypical scarring of skin 90% Pustule 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the tongue 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Recurrent respiratory infections 50% Verrucae 50% Cerebral calcification 7.5% Nasal polyposis 7.5% Seizures 7.5% Abnormality of the skin - Aggressive behavior - Autosomal recessive inheritance - Bilateral intracranial calcifications - Hallucinations - Hoarse voice - Memory impairment - Paranoia - Patchy alopecia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lipoid proteinosis of Urbach and Wiethe +What are the treatments for Lipoid proteinosis of Urbach and Wiethe ?,"How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including corticosteriods, dimethyl sulfoxide; or d-penicillamine. An additional medication called acitretin can be used to treat hoarseness and some skin problems. Anticonvulsant medications are often prescribed for people with seizures. The success of these medications in treating the signs and symptoms of LP varies. Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities.",GARD,Lipoid proteinosis of Urbach and Wiethe +What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ?,"What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondroplasia and Swiss type agammaglobulinemia +What is (are) Sialadenitis ?,"Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.",GARD,Sialadenitis +What are the symptoms of Sialadenitis ?,"What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth.",GARD,Sialadenitis +What causes Sialadenitis ?,"What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. A stone or a kink in the salivary duct can also diminish saliva flow, as can certain medications (such as antihistamines, diuretics, psychiatric medications, beta-blockers, or barbiturates). It often occurs in chronically ill people with xerostomia (dry mouth), people with Sjogren syndrome, and in those who have had radiation therapy to the oral cavity. The most common causative organism in the infection is Staphylococcus aureus; others include streptococci, coliforms, and various anaerobic bacteria. Although less common than bacteria, several viruses have also been implicated in sialadenitis. These include the mumps virus, HIV, coxsackievirus, parainfluenza types I and II, influenza A, and herpes.",GARD,Sialadenitis +What are the treatments for Sialadenitis ?,"How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.",GARD,Sialadenitis +What are the symptoms of Dystonia 1 ?,"What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 90% Abnormality of the voice 50% Incomplete penetrance 30% Abnormal posturing - Autosomal dominant inheritance - Blepharospasm - Dysarthria - Hyperlordosis - Kyphosis - Muscular hypotonia - Scoliosis - Torsion dystonia - Torticollis - Tremor - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 1 +What is (are) Congenital porphyria ?,"Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.",GARD,Congenital porphyria +What are the symptoms of Congenital porphyria ?,"What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of dental color 90% Abnormality of the heme biosynthetic pathway 90% Abnormality of urine homeostasis 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypertrichosis 90% Self-injurious behavior 90% Splenomegaly 90% Abnormality of immune system physiology 50% Recurrent fractures 50% Reduced bone mineral density 50% Thrombocytopenia 7.5% Abnormality of the mouth - Alopecia - Atypical scarring of skin - Autosomal recessive inheritance - Cholelithiasis - Congenital onset - Conjunctivitis - Corneal scarring - Hyperpigmentation of the skin - Hypopigmentation of the skin - Joint contracture of the hand - Loss of eyelashes - Osteolysis - Osteopenia - Pathologic fracture - Scleroderma - Short stature - Thickened skin - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital porphyria +What are the symptoms of Acroosteolysis dominant type ?,"What are the signs and symptoms of Acroosteolysis dominant type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acroosteolysis dominant type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Decreased skull ossification 90% Hypertelorism 90% Long philtrum 90% Osteolysis 90% Periodontitis 90% Reduced bone mineral density 90% Short distal phalanx of finger 90% Short toe 90% Telecanthus 90% Thick eyebrow 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Anteverted nares 50% Arnold-Chiari malformation 50% Arthralgia 50% Bone pain 50% Coarse facial features 50% Dental malocclusion 50% Dolichocephaly 50% Downturned corners of mouth 50% Full cheeks 50% Hearing impairment 50% Joint hypermobility 50% Macrocephaly 50% Narrow mouth 50% Prominent occiput 50% Scoliosis 50% Short neck 50% Thin vermilion border 50% Abnormality of the aortic valve 7.5% Abnormality of the voice 7.5% Bowing of the long bones 7.5% Cataract 7.5% Cleft palate 7.5% Clubbing of toes 7.5% Coarse hair 7.5% Craniofacial hyperostosis 7.5% Displacement of the external urethral meatus 7.5% Dry skin 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypoplasia of the zygomatic bone 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Kyphosis 7.5% Low anterior hairline 7.5% Low-set, posteriorly rotated ears 7.5% Migraine 7.5% Mitral stenosis 7.5% Myopia 7.5% Neurological speech impairment 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus carinatum 7.5% Peripheral neuropathy 7.5% Polycystic kidney dysplasia 7.5% Recurrent fractures 7.5% Recurrent respiratory infections 7.5% Skin ulcer 7.5% Splenomegaly 7.5% Synophrys 7.5% Syringomyelia 7.5% Thickened skin 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Juvenile onset - Osteolytic defects of the phalanges of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acroosteolysis dominant type +What is (are) Chromosome 12q deletion ?,"Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 12q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 12q deletion +What is (are) Pulmonary arterial hypertension ?,"Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called ""familial"" PAH. Cases with no identifiable cause may be referred to as ""idiopathic"" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.",GARD,Pulmonary arterial hypertension +What are the symptoms of Pulmonary arterial hypertension ?,"What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7.5% Acrocyanosis 7.5% Ascites 7.5% Congestive heart failure 7.5% Hemoptysis 7.5% Recurrent respiratory infections 7.5% Sudden cardiac death 7.5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary arterial hypertension +What are the treatments for Pulmonary arterial hypertension ?,"How might pulmonary arterial hypertension be treated? People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. Treatment of serious or life threatening PAH may involve continuous IV epoprostenol. Other treatment options, include treprostinil, iloprost, bosentan, ambrisentan, sildenafil, and tadalafil. Many of these treatments can be administered in various forms, such as by shot, IV, or inhalation. A small number of people with PAH respond well to long term oral calcium channel blockers. Blood thinners, diuretics, and supplemental oxygen may be prescribed as needed. Many drugs can be harmful to people with PAH. The following should be avoided: appetite suppressants, cocaine, amphetamines (and related compounds), low oxygen environments (such as high altitudes), and possibly estrogen compounds (oral contraceptives and hormone replacement therapy).",GARD,Pulmonary arterial hypertension +"What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution.",GARD,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis" +"What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the oral cavity 90% Arthralgia 90% Behavioral abnormality 90% Encephalitis 90% Lymphadenopathy 90% Migraine 90% Recurrent pharyngitis 90% Weight loss 90% Abdominal pain 7.5% Arthritis 7.5% Hepatomegaly 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis" +"What causes Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested.",GARD,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis" +"How to diagnose Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. Pharyngitis (sore throat) plus adenopathy (swollen lymph nodes) or aphthous ulcers (canker sores) are also noted. Blood tests like white blood cell count, C-reactive protein, and erythrocyte sedimentation rate (ESR) are often elevated during an acute attack (but normal between attacks). It is important to rule out other conditions that may present with similar symptoms (for example, strep throat). The dramatic response to treatment can help to confirm the diagnosis.",GARD,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis" +"What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.",GARD,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis" +What is (are) X-linked dominant scapuloperoneal myopathy ?,"X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.",GARD,X-linked dominant scapuloperoneal myopathy +What are the symptoms of X-linked dominant scapuloperoneal myopathy ?,"What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Arrhythmia - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Flexion contracture - Foot dorsiflexor weakness - Hyporeflexia - Lower limb muscle weakness - Myofibrillar myopathy - Scapular winging - Scapuloperoneal myopathy - Skeletal muscle atrophy - Slow progression - Steppage gait - Waddling gait - Weakness of facial musculature - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked dominant scapuloperoneal myopathy +What causes X-linked dominant scapuloperoneal myopathy ?,What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy.,GARD,X-linked dominant scapuloperoneal myopathy +What are the treatments for X-linked dominant scapuloperoneal myopathy ?,How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.,GARD,X-linked dominant scapuloperoneal myopathy +"What are the symptoms of Ichthyosis hystrix, Curth Macklin type ?","What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperkeratosis 90% Ichthyosis 90% Skin ulcer 90% Abnormality of the fingernails 50% Flexion contracture 50% Gangrene 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ichthyosis hystrix, Curth Macklin type" +What is (are) Tularemia ?,"Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe and Asia. It is very rare in the United States. The illness, which is characterized by fever, chills, headache, joint pain and muscle weakness, may continue for several weeks after symptoms begin. Streptomycin and tetracycline are commonly used to treat the infection.",GARD,Tularemia +What are the symptoms of Tularemia ?,"What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever Chills Headache Diarrhea Muscle pains Joint stiffness Dry cough Progressive weakness Sweating Weight loss People can also catch pneumonia and develop chest pain, bloody sputum and can have trouble breathing and even sometimes stop breathing. Other symptoms of tularemia depend on how a person was exposed to the tularemia bacteria. These symptoms can include ulcers on the skin or mouth, swollen and painful lymph glands, swollen and painful eyes, and a sore throat.",GARD,Tularemia +What causes Tularemia ?,"What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of an infected tick, horsefly, or mosquito Eating infected meat (rare) Breathing in the bacteria, F. tularensis Tularemia is not known to be spread from person to person. People who have tularemia do not need to be isolated.",GARD,Tularemia +What are the treatments for Tularemia ?,"How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy to streptomycin. However, only a few cases have been studied to date. Tetracycline and Chloramphenicol can be used alone, but they are not considered a first-line treatment.",GARD,Tularemia +What are the symptoms of Osteogenesis imperfecta Levin type ?,"What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta Levin type +What is (are) Valinemia ?,"Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.",GARD,Valinemia +What are the symptoms of Valinemia ?,"What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. The Human Phenotype Ontology provides the following list of signs and symptoms for Valinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Drowsiness - Failure to thrive - Hyperkinesis - Hypervalinemia - Muscle weakness - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Valinemia +What are the treatments for Valinemia ?,"How might valinemia be treated? Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels.",GARD,Valinemia +What is (are) Porencephaly ?,"Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.",GARD,Porencephaly +What are the symptoms of Porencephaly ?,"What are the signs and symptoms of Porencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hypertonia 90% Ventriculomegaly 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Elevated serum creatine phosphokinase - Exotropia - Hemiplegia - Hemolytic anemia - Hydrocephalus - Incomplete penetrance - Intellectual disability - Intracranial hemorrhage - Ischemic stroke - Leukoencephalopathy - Limb dystonia - Porencephaly - Schizencephaly - Seizures - Spasticity - Tetraparesis - Variable expressivity - Visual field defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Porencephaly +What are the symptoms of Lethal chondrodysplasia Moerman type ?,"What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lethal chondrodysplasia Moerman type +What is (are) Doyne honeycomb retinal dystrophy ?,"Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies. The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.",GARD,Doyne honeycomb retinal dystrophy +What are the symptoms of Doyne honeycomb retinal dystrophy ?,"What are the signs and symptoms of Doyne honeycomb retinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Doyne honeycomb retinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Reticular pigmentary degeneration - Retinal dystrophy - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Doyne honeycomb retinal dystrophy +Is Doyne honeycomb retinal dystrophy inherited ?,"How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. Children who do not inherit the mutated gene will not develop or pass on the disease.",GARD,Doyne honeycomb retinal dystrophy +What are the treatments for Doyne honeycomb retinal dystrophy ?,"How might Doyne honeycomb retinal dystrophy (DHRD) be treated? There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training. The goal of visual rehabilitation is to reach maximum function, a sense of well being, a personally satisfying level of independence, and optimum quality of life. Choroidal neovascularization (CNV), the growth of new blood vessels in the choroid, can develop in people with DHRD and has a poor visual prognosis. The authors of a 2011 study reported that 2 people with DHRD and CNV were treated with a course of intravitreal bevacizumab (injected into the eye). This treatment stopped fluid leakage and led to increased visual acuity. They proposed that recovery of visual acuity after treatment of CNV in these cases shows that the loss of retinal function may be reversible. However, this finding needs to be confirmed in more studies with a larger number of participants. There was also a case report of a person with malattia leventinese (a condition very similar to DHRD and sometimes considered the same) who was treated successfully with photodynamic therapy using verteporfin. The treatment reportedly prevented severe visual loss in the patient. The authors of this case report proposed that photodynamic therapy be considered as a possible treatment in patients with malattia leventinese or DHRD who develop CNV. You may consider participating in a clinical trial for treatment of retinal dystrophy. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There are many clinical trials currently enrolling individuals with hereditary retinal dystrophy. View a list of these studies here. After you click on a study, review its eligibility criteria to determine its appropriateness. We suggest reviewing the list of studies with your physician. Use the studys contact information to learn more. You can check this site often for regular updates. Use ""retinal dystrophy"" or ""Doyne honeycomb retinal dystrophy"" as your search term.",GARD,Doyne honeycomb retinal dystrophy +What are the symptoms of Familial joint instability syndrome ?,"What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Joint hypermobility 90% Patellar dislocation 90% Abnormality of the elbow 7.5% Abnormality of the femur 7.5% Abnormality of the shoulder 7.5% Hernia of the abdominal wall 7.5% Autosomal dominant inheritance - Congenital hip dislocation - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial joint instability syndrome +What are the symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency ?,"What are the signs and symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal recessive inheritance - Hyperglycinuria - Ketoacidosis - Muscular hypotonia - Organic aciduria - Propionyl-CoA carboxylase deficiency - Seborrheic dermatitis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,3 alpha methylcrotonyl-CoA carboxylase 2 deficiency +What is (are) Osteopetrosis autosomal recessive 7 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal recessive 7 +What are the symptoms of Osteopetrosis autosomal recessive 7 ?,"What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 3/4 Abnormal trabecular bone morphology - Anemia - Autosomal recessive inheritance - Nystagmus - Optic nerve compression - Osteopetrosis - Progressive visual loss - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal recessive 7 +"What are the symptoms of Dystonia 2, torsion, autosomal recessive ?","What are the signs and symptoms of Dystonia 2, torsion, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 2, torsion, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blepharospasm - Dysarthria - Dysphagia - Juvenile onset - Torsion dystonia - Torticollis - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dystonia 2, torsion, autosomal recessive" +What are the symptoms of Yemenite deaf-blind hypopigmentation syndrome ?,"What are the signs and symptoms of Yemenite deaf-blind hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yemenite deaf-blind hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cafe-au-lait spot 90% Delayed eruption of teeth 90% Freckling 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Macrodontia 90% Nystagmus 90% Strabismus 90% Anterior chamber synechiae 50% Gait disturbance 50% High forehead 50% Iris coloboma 50% Microcornea 50% Ocular albinism 50% Short philtrum 50% Abnormality of the palate 7.5% Blepharophimosis 7.5% Hypermetropia 7.5% Hypertonia 7.5% Taurodontia 7.5% Autosomal recessive inheritance - Chorioretinal coloboma - Numerous pigmented freckles - Patchy hypo- and hyperpigmentation - Severe sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Yemenite deaf-blind hypopigmentation syndrome +What are the symptoms of Branchial arch syndrome X-linked ?,"What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the pinna 90% Branchial anomaly 90% Conductive hearing impairment 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short stature 90% Triangular face 90% Webbed neck 90% Aplasia/Hypoplasia of the eyebrow 50% Cryptorchidism 50% Epicanthus 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pulmonary valve 7.5% Asymmetric growth 7.5% Facial asymmetry 7.5% Pectus excavatum 7.5% Ptosis 7.5% Hearing impairment - High palate - Low-set ears - Protruding ear - Pulmonic stenosis - Specific learning disability - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Branchial arch syndrome X-linked +What is (are) Spastic paraplegia 11 ?,"Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.",GARD,Spastic paraplegia 11 +What are the symptoms of Spastic paraplegia 11 ?,"What are the signs and symptoms of Spastic paraplegia 11? Signs and symptoms of spastic paraplegia 11, include: Spasticity (progressive muscle stiffness) Paraplegia (eventual paralysis of the lower limbs) Numbness, tingling, or pain in the arms and legs Disturbance in the nerves used for muscle movement Intellectual disability Exaggerated reflexes of the lower limbs Speech difficulties Reduced bladder control Muscle wasting Less common features, include: Difficulty swallowing High-arched feet Scoliosis Involuntary movements of the eyes Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset). The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cerebral cortical atrophy 90% Gait disturbance 90% Incoordination 90% Neurological speech impairment 90% Seizures 90% Ventriculomegaly 90% Abnormality of the periventricular white matter - Adult onset - Agenesis of corpus callosum - Ankle clonus - Ataxia - Autosomal recessive inheritance - Babinski sign - Childhood onset - Decreased number of peripheral myelinated nerve fibers - Degeneration of the lateral corticospinal tracts - Distal peripheral sensory neuropathy - Dysarthria - Dysphagia - Gaze-evoked nystagmus - Hyperreflexia - Hypoplasia of the corpus callosum - Impaired vibration sensation in the lower limbs - Intellectual disability - Knee clonus - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mental deterioration - Motor polyneuropathy - Obesity - Pes cavus - Progressive - Retinal degeneration - Sensory neuropathy - Spastic gait - Spastic paraplegia - Specific learning disability - Thenar muscle atrophy - Tip-toe gait - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 11 +What are the symptoms of Epilepsy juvenile absence ?,"What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Autosomal dominant inheritance - EEG with spike-wave complexes (>3.5 Hz) - Generalized myoclonic seizures - Generalized tonic-clonic seizures on awakening - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epilepsy juvenile absence +What are the symptoms of Spastic paraplegia 19 ?,"What are the signs and symptoms of Spastic paraplegia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 19. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal dominant inheritance - Babinski sign - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Lower limb spasticity - Slow progression - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 19 +What are the symptoms of Tetralogy of fallot and glaucoma ?,"What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital glaucoma - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetralogy of fallot and glaucoma +What are the symptoms of Episodic ataxia with nystagmus ?,"What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebellar vermis atrophy - Diplopia - Downbeat nystagmus - Dysarthria - Dystonia - Episodic ataxia - Gaze-evoked nystagmus - Incomplete penetrance - Migraine - Muscle weakness - Myotonia - Paresthesia - Progressive cerebellar ataxia - Saccadic smooth pursuit - Tinnitus - Vertigo - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Episodic ataxia with nystagmus +What are the symptoms of Kowarski syndrome ?,"What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed skeletal maturation - Pituitary dwarfism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kowarski syndrome +"What are the symptoms of Maturity-onset diabetes of the young, type 8 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Abnormality of exocrine pancreas physiology - Autosomal dominant inheritance - Maturity-onset diabetes of the young - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 8" +What is (are) Lymphedema-distichiasis syndrome ?,"Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern.",GARD,Lymphedema-distichiasis syndrome +What are the symptoms of Lymphedema-distichiasis syndrome ?,"What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal erosion 90% Distichiasis 90% Photophobia 90% Cataract 50% Muscle weakness 50% Ptosis 50% Abnormality of the pulmonary vasculature 7.5% Arrhythmia 7.5% Benign neoplasm of the central nervous system 7.5% Diabetes mellitus 7.5% Glomerulopathy 7.5% Patent ductus arteriosus 7.5% Proteinuria 7.5% Recurrent urinary tract infections 7.5% Renal duplication 7.5% Sarcoma 7.5% Skin ulcer 7.5% Webbed neck 7.5% Cleft palate 4% Cleft upper lip 4% Abnormality of the musculature - Autosomal dominant inheritance - Conjunctivitis - Corneal ulceration - Lymphedema - Predominantly lower limb lymphedema - Recurrent corneal erosions - Tetralogy of Fallot - Varicose veins - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lymphedema-distichiasis syndrome +What are the symptoms of Corneal endothelial dystrophy type 2 ?,"What are the signs and symptoms of Corneal endothelial dystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal endothelial dystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital corneal dystrophy - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneal endothelial dystrophy type 2 +Is Corneal endothelial dystrophy type 2 inherited ?,"How is corneal endothelial dystropy type 2 inherited? Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. Neither parent will show signs or symptoms of the condition because two copies are needed for the condition to occur. There have been several families with corneal endothelial dystrophy type 2 where no mutation was found in the SLC4A11 gene. To find laboratories offering genetic testing to confirm a diagnosis, please visit the Tests and Diagnosis section of the Web site. http://rarediseases.info.nih.gov/gard/6196/ched2/resources/12",GARD,Corneal endothelial dystrophy type 2 +What is (are) Juvenile temporal arteritis ?,"Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.",GARD,Juvenile temporal arteritis +What are the symptoms of Patterned dystrophy of retinal pigment epithelium ?,"What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Metamorphopsia 5% Nyctalopia 5% Photophobia 5% Autosomal dominant inheritance - Macular dystrophy - Reticular retinal dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Patterned dystrophy of retinal pigment epithelium +What are the symptoms of Bardet-Biedl syndrome 9 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 9 +What is (are) Branchiooculofacial syndrome ?,"Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.",GARD,Branchiooculofacial syndrome +What are the symptoms of Branchiooculofacial syndrome ?,"What are the signs and symptoms of Branchiooculofacial syndrome? The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiooculofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Chorioretinal coloboma 90% Conductive hearing impairment 90% Deep philtrum 90% External ear malformation 90% Low-set, posteriorly rotated ears 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the fingernails 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the voice 50% Dolichocephaly 50% Intrauterine growth retardation 50% Iris coloboma 50% Lacrimation abnormality 50% Microdontia 50% Neurological speech impairment 50% Non-midline cleft lip 50% Postnatal growth retardation 50% Premature graying of hair 50% Reduced number of teeth 50% Short stature 50% Upslanted palpebral fissure 50% Cataract 7.5% Lip pit 7.5% Microcornea 7.5% Multicystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Strabismus 7.5% Abnormality of the teeth - Agenesis of cerebellar vermis - Anophthalmia - Aplasia cutis congenita - Atypical scarring of skin - Autosomal dominant inheritance - Branchial anomaly - Broad nasal tip - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Cryptorchidism - Depressed nasal bridge - Dermal atrophy - Duplication of internal organs - Ectopic thymus tissue - Elbow flexion contracture - Fusion of middle ear ossicles - Gastroesophageal reflux - Hamartoma - Hyperlordosis - Hypertelorism - Hypoplastic fingernail - Hypoplastic superior helix - Hypospadias - Intellectual disability, mild - Kyphosis - Low posterior hairline - Lower lip pit - Low-set ears - Malar flattening - Malrotation of colon - Microcephaly - Microphthalmia - Microtia - Myopia - Nasal speech - Nasolacrimal duct obstruction - Nystagmus - Overfolded helix - Postauricular pit - Preauricular pit - Proximal placement of thumb - Pyloric stenosis - Renal agenesis - Renal cyst - Retinal coloboma - Seizures - Sensorineural hearing impairment - Short nasal septum - Short neck - Short thumb - Single transverse palmar crease - Small forehead - Supernumerary nipple - Supraauricular pit - Telecanthus - White forelock - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Branchiooculofacial syndrome +Is Branchiooculofacial syndrome inherited ?,"How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition.",GARD,Branchiooculofacial syndrome +How to diagnose Branchiooculofacial syndrome ?,"How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Branchiooculofacial syndrome +"What is (are) Ehlers-Danlos syndrome, kyphoscoliosis type ?","Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +"What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations) Severe hypotonia at birth Progressive kyphoscoliosis (kyphosis and scoliosis), present at birth or within the first year of life Scleral fragility Abnormal wound healing ""Marfanoid habitus"" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum) Fragile arteries that are prone to rupture Delayed motor development Unusually small cornia Osteopenia (low bone density) Congenital clubfoot Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body) The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, kyphoscoliosis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the mitral valve 90% Aortic dissection 90% Arterial dissection 90% Atypical scarring of skin 90% Gait disturbance 90% Joint dislocation 90% Joint hypermobility 90% Kyphosis 90% Muscular hypotonia 90% Myopia 90% Scoliosis 90% Abnormality of coagulation 50% Abnormality of the hip bone 50% Decreased corneal thickness 50% Glaucoma 50% Hernia of the abdominal wall 50% Hyperextensible skin 50% Microcornea 50% Retinal detachment 50% Retinopathy 50% Subcutaneous hemorrhage 50% Visual impairment 50% Corneal dystrophy 7.5% Talipes 7.5% Arachnodactyly - Autosomal recessive inheritance - Bladder diverticulum - Blindness - Blue sclerae - Bruising susceptibility - Congestive heart failure - Decreased fetal movement - Decreased pulmonary function - Dental crowding - Depressed nasal bridge - Disproportionate tall stature - Epicanthus - Gastrointestinal hemorrhage - Inguinal hernia - Joint laxity - Keratoconus - Molluscoid pseudotumors - Motor delay - Osteoporosis - Palmoplantar cutis laxa - Pes planus - Premature rupture of membranes - Progressive congenital scoliosis - Recurrent pneumonia - Respiratory insufficiency - Soft skin - Talipes equinovarus - Tall stature - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +"What causes Ehlers-Danlos syndrome, kyphoscoliosis type ?","What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type.",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +"Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ?","Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +"How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ?","How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +"What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ?","How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,"Ehlers-Danlos syndrome, kyphoscoliosis type" +What are the symptoms of Brachydactyly type A1 ?,"What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type A1 +What is (are) Linear porokeratosis ?,"Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. These markings are not usually painful, though they can sometimes cause open sores in the skin. There is up to an 11% chance that these markings could progress to skin cancer (basal cell cancer or squamous cell carcinoma) over time. The exact cause of linear porokeratosis is unknown, but risk factors may include exposure to the sun or radiation, problems with the immune system (immunosuppression), or genetic predisposition.",GARD,Linear porokeratosis +What are the treatments for Linear porokeratosis ?,"How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings. Several medications (5-fluorouracil, acitretin) have been shown to be effective for treating this condition in a small number of patients. We identified a single report of photodynamic therapy being used to successfully treat an individual with linear porokeratosis. Surgery is recommended to remove any skin cancer that may develop.",GARD,Linear porokeratosis +What is (are) Cheilitis glandularis ?,"Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.",GARD,Cheilitis glandularis +What are the symptoms of Cheilitis glandularis ?,"What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Abnormality of the salivary glands 90% Thick lower lip vermilion 90% Autosomal dominant inheritance - Cheilitis - Squamous cell carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cheilitis glandularis +What are the treatments for Cheilitis glandularis ?,"How might cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate those causes. Given the relatively small number of reported cases of the condition, there is not sufficient or reliable data that exists with regard to medical approaches. Therefore, treatment generally varies accordingly for each individual. For cases attributable to angioedema (swelling similar to hives beneath the skin), an antihistamine may help with temporary reduction of acute, nonpurulent (lacking pus) swelling. Suppurative cases (those with pus present) typically require management with appropriate antimicrobial treatment as determined by culture and sensitivity testing. Concomitant corticosteroid treatment may increase the effectiveness of antimicrobial therapy in cases with nodularity; however, the potential adverse effects of long-term corticosteroid treatment, and because it can promote local fibrosis and scarring, limit its potential use either as an adjunct to antibiotic treatment or as a single therapeutic modality. Topical 5-fluorouracil is useful for treatment of dysplastic actinic cheilitis and to curtail its progression. In conjunction with clinical supervision, it can be prescribed as an alternative to vermilionectomy (sometimes called a lip shave) or as a preventative measure following vermilionectomy. In cheilitis glandularis cases in which a history of chronic sun exposure exists (especially if the individual is fair skinned or the everted lip surface is chronically eroded, ulcerated, or crusted), biopsy is strongly recommended to rule out actinic cheilitis or carcinoma. Surgical excision is typically not necessary when the diagnosis is actinic cheilitis with atypia or only mild dysplasia; however, individuals require ongoing clinical vigilance at regular intervals and instruction in measures to protect the lips from further sun damage. Treatment options for cases of actinic cheilitis with moderate-to-severe dysplasia include surgical stripping or vermilionectomy, cryosurgery or laser surgery, or topical chemotherapy with 5-fluorouracil. Given the potential for recurrence and the risk for development of carcinoma, sun protective measures and regular clinical monitoring should be instituted. In cases in which eversion, extensive fibrosis, and induration have resulted in lip incompetence with functional and cosmetic compromise, chronic pain, and surface disruption, surgical cheiloplasty (lip reduction) may be indicated to restore normal lip architecture and function. Cheiloplasty is also a prophylactic measure for reducing the risk of actinic injury.",GARD,Cheilitis glandularis +"What are the symptoms of Myelocytic leukemia-like syndrome, familial, chronic ?","What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Myelocytic leukemia-like syndrome, familial, chronic" +What is (are) Intravenous leiomyomatosis ?,"Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle cells that cause IVL express estrogen and progesterone receptors and tumor growth thus appears to respond to these hormones. Although this is a benign condition, many affected individuals require surgery to remove the excess tissue in the uterus and heart. The exact cause of IVL remains unknown. IVL is rare, with only about 200 cases reported in the medical literature.",GARD,Intravenous leiomyomatosis +What are the symptoms of Intravenous leiomyomatosis ?,"What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. When IVL in the uterus is exposed to venous blood that flows to the heart, it usually grows slowly and may reach the heart undetected. When IVL reaches the heart, it can result in pulmonary embolisms, cardiac failure, fainting, and in some cases, sudden death. Most people do not experience symptoms until the IVL reaches the heart.",GARD,Intravenous leiomyomatosis +What are the treatments for Intravenous leiomyomatosis ?,"How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a recurrence and hence further surgery or even death. Many affected individuals undergo a hysterectomy; bilateral oophorectomy is also suggested because these tumors are estrogen dependent. Part of a tumor left inside the pelvic veins at the time of hysterectomy can extend towards the right side of the heart, leading to obstruction and other adverse events later in life. The median time between hysterectomy to the diagnosis of IVL with cardiac involvement is 4 years. Once there is cardiac involvement, a patient may require open-heart surgery to remove the IVL from the affected areas.",GARD,Intravenous leiomyomatosis +What is (are) Absence of Tibia ?,"Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).",GARD,Absence of Tibia +What are the symptoms of Absence of Tibia ?,"What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent tibia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Absence of Tibia +"What are the symptoms of Chondrodysplasia, Grebe type ?","What are the signs and symptoms of Chondrodysplasia, Grebe type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia, Grebe type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Adactyly 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Limitation of joint mobility 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormality of the fibula 50% Abnormality of the tibia 50% Aplasia/Hypoplasia of the thumb 50% Postaxial hand polydactyly 50% Acromesomelia - Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the patella - Autosomal recessive inheritance - Death in infancy - Disproportionate short-limb short stature - Fibular hypoplasia - Flexion contracture - Hypoplasia of the radius - Hypoplasia of the ulna - Short digit - Short femur - Short foot - Short humerus - Short phalanx of finger - Short tibia - Stillbirth - Valgus foot deformity - Valgus hand deformity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Chondrodysplasia, Grebe type" +What is (are) Familial HDL deficiency ?,,GARD,Familial HDL deficiency +What are the symptoms of Familial HDL deficiency ?,"What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 50% Abnormality of the liver 50% Anemia 50% EMG abnormality 50% Hemiplegia/hemiparesis 50% Lymphadenopathy 50% Splenomegaly 50% Autosomal dominant inheritance - Hypoalphalipoproteinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial HDL deficiency +What are the symptoms of Parkinson disease type 9 ?,"What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Distal sensory impairment 5% Seizures 5% Aggressive behavior - Akinesia - Anarthria - Anosmia - Autosomal recessive inheritance - Babinski sign - Dementia - Hallucinations - Hyperreflexia - Hypokinesia - Hyposmia - Mask-like facies - Myoclonus - Paraparesis - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Postural instability - Psychotic episodes - Rapidly progressive - Rigidity - Slow saccadic eye movements - Spasticity - Supranuclear gaze palsy - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Parkinson disease type 9 +What is (are) Tourette syndrome ?,"Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small number of people with Tourette syndrome have been found to have mutations involving the SLITRK1 gene. The syndrome is believed to be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. It is estimated that about 1% of the population has Tourette syndrome. Many people with very mild tics may not be aware of them and never seek medical help. Tourette syndrome is four times as likely to occur in boys as in girls. Although Tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.",GARD,Tourette syndrome +What are the symptoms of Tourette syndrome ?,"What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. The Human Phenotype Ontology provides the following list of signs and symptoms for Tourette syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Echolalia - Motor tics - Obsessive-compulsive behavior - Phonic tics - Self-mutilation - Sleep disturbance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tourette syndrome +What causes Tourette syndrome ?,"What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of Tourette syndrome, the cause of the disorder is likely to be equally complex. In many cases, there is a family history of tics, Tourette Syndrome, ADHD, OCD. In 2005, scientists discovered the first gene mutation that may cause some cases of Tourette syndrome. This gene, named SLITRK1, is normally involved with the growth of nerve cells and how they connect with other neurons. The mutated gene is located in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with Tourette syndrome.",GARD,Tourette syndrome +Is Tourette syndrome inherited ?,"Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of Tourette syndrome. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to Tourette syndrome, but there is less evidence for a genetic relationship between Tourette syndrome and other neurobehavioral problems that commonly co-occur with Tourette syndrome. Due to the complex nature of Tourette syndrome inheritance, affected families and those at risk may benefit from consulting with a genetics professional. Information about how to locate a genetics professional is provided in the Living With section.",GARD,Tourette syndrome +What are the treatments for Tourette syndrome ?,"How might Tourette syndrome be treated? Many individuals with Tourette syndrome have mild symptoms and do not require medication. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). Unfortunately, there is no one medication that is helpful to all people with Tourette syndrome, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Additional medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine and guanfacine. These medications are used primarily for hypertension but are also used in the treatment of tics. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with Tourette syndrome. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with Tourette syndrome without causing tics to become more severe. However, the product labeling for stimulants currently contraindicates the use of these drugs in children with tics/Tourette syndrome and those with a family history of tics. For obsessive-compulsive symptoms that significantly disrupt daily functioning, the serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine, and sertraline) have been proven effective in some individuals. Behavioral treatment such as awareness training and competing response training can also be used to reduce tics. Psychotherapy may be helpful as well. It can help with accompanying problems, such as ADHD, obsessions, depression and anxiety. Therapy can also help people cope with Tourette syndrome. For debilitating tics that don't respond to other treatment, deep brain stimulation (DBS) may help. DBS consists of implanting a battery-operated medical device (neurostimulator) in the brain to deliver electrical stimulation to targeted areas that control movement. Further research is needed to determine whether DBS is beneficial for people with Tourette syndrome.",GARD,Tourette syndrome +What is (are) Maternally inherited diabetes and deafness ?,"Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1, MT-TK, or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.",GARD,Maternally inherited diabetes and deafness +What are the symptoms of Maternally inherited diabetes and deafness ?,"What are the signs and symptoms of Maternally inherited diabetes and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Chorioretinal abnormality 90% Constipation 90% Diabetes mellitus 90% Malabsorption 90% Sensorineural hearing impairment 90% Abnormality of lipid metabolism 50% Aplasia/Hypoplasia of the cerebellum 50% Arrhythmia 50% Congestive heart failure 50% Glomerulopathy 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Muscle weakness 50% Myalgia 50% Ophthalmoparesis 50% Proteinuria 50% Cataract 7.5% Incoordination 7.5% Renal insufficiency 7.5% Retinopathy 7.5% Visual impairment 7.5% Ptosis 5% Dysarthria - External ophthalmoplegia - Hyperglycemia - Mitochondrial inheritance - Pigmentary retinal degeneration - Retinal degeneration - Seizures - Type II diabetes mellitus - Unsteady gait - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. When do the diabetes and hearing loss associated with MIDD typically develop? In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.",GARD,Maternally inherited diabetes and deafness +Is Maternally inherited diabetes and deafness inherited ?,"How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.",GARD,Maternally inherited diabetes and deafness +What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ?,"Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.",GARD,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked +What are the symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ?,"What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hydronephrosis 5% Pyloric stenosis 5% Seizures 5% Spastic diplegia 5% Abdominal distention - Abnormal facial shape - Feeding difficulties in infancy - Hypertelorism - Increased mean platelet volume - Infantile onset - Intestinal malrotation - Intestinal pseudo-obstruction - Low-set ears - Patent ductus arteriosus - Smooth philtrum - Thrombocytopenia - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked +What is (are) Optic neuritis ?,"Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.",GARD,Optic neuritis +How to diagnose Optic neuritis ?,"How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, color vision and peripheral vision. The optic nerve should be examined with ophthalmoscopy for inflammation and swelling. Additional tests may include MRI of the brain, spinal tap and blood tests.",GARD,Optic neuritis +"What are the symptoms of Mitral valve prolapse, familial, X-linked ?","What are the signs and symptoms of Mitral valve prolapse, familial, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitral valve prolapse, familial, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Disproportionate tall stature - High palate - Mitral regurgitation - Mitral valve prolapse - Pectus excavatum - Reversed usual vertebral column curves - Striae distensae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mitral valve prolapse, familial, X-linked" +What is (are) Protein C deficiency ?,"Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner. Most people with protein C deficiency do not have any symptoms and require no specific treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. Patients with the severe form of the disease are treated depending on the symptoms. A protein C concentrate is effective in many cases. Liver transplant may cure the babies with this disease.",GARD,Protein C deficiency +What are the symptoms of Protein C deficiency ?,"What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Subcutaneous hemorrhage 50% Thin skin 50% Thrombophlebitis 50% Abnormality of skin pigmentation 7.5% Abnormality of the cerebral vasculature 7.5% Gangrene 7.5% Pulmonary embolism 7.5% Skin ulcer 7.5% Venous insufficiency 7.5% Abnormality of the eye - Abnormality of the nervous system - Autosomal dominant inheritance - Cerebral venous thrombosis - Deep venous thrombosis - Hypercoagulability - Reduced protein C activity - Superficial thrombophlebitis - Warfarin-induced skin necrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Protein C deficiency +What causes Protein C deficiency ?,"What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.",GARD,Protein C deficiency +Is Protein C deficiency inherited ?,How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. People who inherit two mutated copies of the gene have severe protein C deficiency.,GARD,Protein C deficiency +How to diagnose Protein C deficiency ?,"How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or inherited condition and to classify the type of deficiency. If the shortage of protein C is due to an inherited genetic change, the quantity of protein C available and the degree of activity can be used to help determine whether a person is heterozygous or homozygous for the mutation. Genetic testing is not necessary to make a diagnosis.",GARD,Protein C deficiency +What are the treatments for Protein C deficiency ?,"How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.",GARD,Protein C deficiency +"What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ?","What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" +What are the symptoms of 1q44 microdeletion syndrome ?,"What are the signs and symptoms of 1q44 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q44 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the philtrum 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertelorism 50% Microcephaly 50% Short stature 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Abnormality of the palate 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% High forehead 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Narrow forehead 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Synophrys 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,1q44 microdeletion syndrome +What is (are) Leukodystrophy ?,"A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.",GARD,Leukodystrophy +What are the symptoms of Nephrosis deafness urinary tract digital malformation ?,"What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Nephrotic syndrome 90% Abnormality of the ureter 50% Cleft palate 50% Hematuria 50% Hypertension 50% Proteinuria 50% Abnormal localization of kidney 7.5% Abnormality of lipid metabolism 7.5% Renal insufficiency 7.5% Bifid distal phalanx of the thumb - Bifid uvula - Hearing impairment - Partial duplication of the distal phalanx of the hallux - Short distal phalanx of hallux - Short distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nephrosis deafness urinary tract digital malformation +What are the symptoms of Acromesomelic dysplasia Hunter Thompson type ?,"What are the signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Brachydactyly syndrome 90% Elbow dislocation 90% Micromelia 90% Neurological speech impairment 90% Short stature 90% Single transverse palmar crease 90% Tarsal synostosis 90% Abnormality of the hip bone 50% Abnormality of the wrist 50% Cognitive impairment 50% Limitation of joint mobility 50% Patellar dislocation 50% Scoliosis 50% Abnormally shaped carpal bones - Acromesomelia - Autosomal recessive inheritance - Cuboidal metacarpal - Distal femoral bowing - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Radial bowing - Severe short-limb dwarfism - Short foot - Short thumb - Short tibia - Shortening of all middle phalanges of the fingers - Shortening of all proximal phalanges of the fingers - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acromesomelic dysplasia Hunter Thompson type +What is (are) Snyder-Robinson syndrome ?,"Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.",GARD,Snyder-Robinson syndrome +What are the symptoms of Snyder-Robinson syndrome ?,"What are the signs and symptoms of Snyder-Robinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Snyder-Robinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Bifid uvula - Broad-based gait - Cleft palate - Cryptorchidism - Decreased muscle mass - Dental crowding - Dysarthria - Facial asymmetry - High, narrow palate - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability - Kyphoscoliosis - Long fingers - Long hallux - Long palm - Mandibular prognathia - Muscular hypotonia - Narrow palm - Nasal speech - Osteoporosis - Pectus carinatum - Pectus excavatum - Phenotypic variability - Recurrent fractures - Seizures - Severe Myopia - Short philtrum - Short stature - Talipes equinovarus - Tall stature - Thick lower lip vermilion - Webbed neck - Wide intermamillary distance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Snyder-Robinson syndrome +What are the symptoms of Tibia absent polydactyly arachnoid cyst ?,"What are the signs and symptoms of Tibia absent polydactyly arachnoid cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Tibia absent polydactyly arachnoid cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Abnormality of the fibula 50% Abnormality of the ulna 50% Congenital diaphragmatic hernia 50% Intestinal malrotation 50% Non-midline cleft lip 50% Postaxial foot polydactyly 50% Postaxial hand polydactyly 50% Preaxial foot polydactyly 50% Talipes 50% Toe syndactyly 50% Ventriculomegaly 50% Abnormality of the thorax - Aplasia/Hypoplasia of the tibia - Arachnoid cyst - Autosomal recessive inheritance - Choroid plexus cyst - Cleft upper lip - Posterior fossa cyst - Radial bowing - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tibia absent polydactyly arachnoid cyst +What is (are) Pars planitis ?,"Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery.",GARD,Pars planitis +What are the symptoms of Pars planitis ?,"What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.",GARD,Pars planitis +What causes Pars planitis ?,"What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Although most cases occur sporadically in people with no family history of the condition, pars planitis can rarely affect more than one family member. In these cases, there may be a genetic component; however, a disease-causing gene and specific inheritance pattern have not been identified.",GARD,Pars planitis +How to diagnose Pars planitis ?,"How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or ""inflammatory exudate""). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a ""hallmark"" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.",GARD,Pars planitis +What are the treatments for Pars planitis ?,"How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate). If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.",GARD,Pars planitis +What are the symptoms of Lipidosis with triglycerid storage disease ?,"What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 90% Dry skin 90% Ichthyosis 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Cognitive impairment 50% EMG abnormality 50% Hepatomegaly 50% Muscle weakness 50% Myopathy 50% Ptosis 50% Retinopathy 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the aortic valve 7.5% Cataract 7.5% Cranial nerve paralysis 7.5% Diabetes mellitus 7.5% Incoordination 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lipidosis with triglycerid storage disease +What is (are) Duane syndrome type 3 ?,"Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms. In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.",GARD,Duane syndrome type 3 +What are the symptoms of Duane syndrome type 3 ?,"What are the signs and symptoms of Duane syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Congenital strabismus - Duane anomaly - Impaired convergence - Impaired ocular abduction - Impaired ocular adduction - Palpebral fissure narrowing on adduction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duane syndrome type 3 +What is (are) Spinocerebellar ataxia 13 ?,"Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (often with intellectual disability and occasional seizures) to adult-onset progressive ataxia. Life expectancy is normal. SCA13 is caused by mutations in the KCNC3 gene and is inherited in an autosomal dominant manner. Treatment may include anti-seizure medications; assistive devices (such as a canes and walkers); and/or speech therapy and communication devices.",GARD,Spinocerebellar ataxia 13 +What are the symptoms of Spinocerebellar ataxia 13 ?,"What are the signs and symptoms of Spinocerebellar ataxia 13? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Gait ataxia - Hyperreflexia - Intellectual disability - Limb ataxia - Limb dysmetria - Morphological abnormality of the pyramidal tract - Motor delay - Muscular hypotonia - Nystagmus - Progressive cerebellar ataxia - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 13 +What is (are) Nocardiosis ?,"Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), brain (headaches and seizures), and skin (skin infections, ulcers, and abscesses). The nocardia bacteria are found in soil around the world. People contract this disease by either inhaling contaminated dust or if soil containing nocardia bacteria get into an open wound. While anyone can contract this condition, people with a weakened immune system or chronic lung disease are at greatest risk of this condition.",GARD,Nocardiosis +What are the symptoms of Macrocephaly-capillary malformation ?,"What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arteriovenous malformation 90% Asymmetric growth 90% Facial asymmetry 90% Finger syndactyly 90% Foot polydactyly 90% Hand polydactyly 90% Macrocephaly 90% Telangiectasia of the skin 90% Toe syndactyly 90% Visceral angiomatosis 90% Wide mouth 90% Aplasia/Hypoplasia of the cerebellum 50% Cognitive impairment 50% Cutis marmorata 50% Frontal bossing 50% Full cheeks 50% High forehead 50% Hydrocephalus 50% Hypermelanotic macule 50% Joint hypermobility 50% Muscular hypotonia 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Arnold-Chiari malformation 7.5% Arrhythmia 7.5% Cerebral ischemia 7.5% Deeply set eye 7.5% Depressed nasal bridge 7.5% Optic atrophy 7.5% Broad forehead - Cavum septum pellucidum - Epicanthus - Hernia - Hypertelorism - Intellectual disability - Joint laxity - Large earlobe - Leukemia - Megalencephaly - Meningioma - Microphthalmia - Nephroblastoma (Wilms tumor) - Overgrowth - Polydactyly - Polymicrogyria - Progressive macrocephaly - Seizures - Smooth philtrum - Somatic mutation - Sporadic - Syndactyly - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Macrocephaly-capillary malformation +What are the symptoms of Mandibuloacral dysplasia ?,"What are the signs and symptoms of Mandibuloacral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Arthralgia 90% Convex nasal ridge 90% Hypopigmented skin patches 90% Limitation of joint mobility 90% Lipoatrophy 90% Prematurely aged appearance 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the eyebrow 50% Abnormality of the nail 50% Abnormality of the teeth 50% Alopecia 50% Cataract 50% Chondrocalcinosis 50% Flexion contracture 50% Hearing impairment 50% Lack of skin elasticity 50% Muscle weakness 50% Muscular hypotonia 50% Myopathy 50% Narrow mouth 50% Osteolysis 50% Short nose 50% Thin skin 50% Abnormality of lipid metabolism 7.5% Insulin resistance 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mandibuloacral dysplasia +What are the symptoms of Peptidic growth factors deficiency ?,"What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Convex nasal ridge 90% Flexion contracture 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Lipoatrophy 90% Narrow mouth 90% Palmoplantar keratoderma 90% Pectus excavatum 90% Pes planus 90% Weight loss 90% Abnormal hair quantity 50% Abnormality of limb bone morphology 50% Abnormality of lipid metabolism 50% Atherosclerosis 50% Chondrocalcinosis 50% Premature graying of hair 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Autosomal recessive inheritance - Dermal atrophy - Insulin-resistant diabetes mellitus - Plantar hyperkeratosis - Reduced subcutaneous adipose tissue - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Peptidic growth factors deficiency +What are the symptoms of Wilson-Turner syndrome ?,"What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Obesity 90% Gynecomastia 50% Neurological speech impairment 50% Abnormality of calvarial morphology 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Arthritis 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Incoordination 7.5% Large earlobe 7.5% Lymphedema 7.5% Macrotia 7.5% Mandibular prognathia 7.5% Narrow mouth 7.5% Pointed chin 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Round ear 7.5% Scoliosis 7.5% Seizures 7.5% Short palm 7.5% Striae distensae 7.5% Synophrys 7.5% Tapered finger 7.5% Thick eyebrow 7.5% Toxemia of pregnancy 7.5% Umbilical hernia 7.5% Brachycephaly - Broad nasal tip - Decreased muscle mass - Decreased testicular size - Deeply set eye - Delayed puberty - Delayed speech and language development - Emotional lability - Hypogonadism - Intellectual disability - Kyphosis - Microcephaly - Micropenis - Misalignment of teeth - Muscular hypotonia - Prominent supraorbital ridges - Retrognathia - Short ear - Short foot - Short stature - Small hand - Truncal obesity - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wilson-Turner syndrome +What is (are) Hairy tongue ?,"Hairy tongue is a condition in which the the central top portion of the tongue presents with an abnormal coloring. Although the abnormal coating is typically black in color, brown, yellow, and green discoloration has been described.",GARD,Hairy tongue +What causes Hairy tongue ?,"What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue.",GARD,Hairy tongue +What are the treatments for Hairy tongue ?,"What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush. Medication is rarely prescribed for hairy tongue; however, in severe cases, antifungals, retinoids or mouthwashes may be used. If treatment fails, the affected portion of the tongue called the papillae (finger-like projections) may be clipped or removed using techniques such as carbon dioxide laser burning or electrodesiccation (a procedure in which an electrical current is used to seal of the affected area).",GARD,Hairy tongue +What is (are) Osteopetrosis autosomal recessive 3 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal recessive 3 +What are the symptoms of Osteopetrosis autosomal recessive 3 ?,"What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the renal tubule 90% Anemia 90% Aseptic necrosis 90% Bone pain 90% Cognitive impairment 90% Genu valgum 90% Hepatomegaly 90% Increased bone mineral density 90% Recurrent fractures 90% Reduced bone mineral density 90% Splenomegaly 90% Abnormality of dental morphology 50% Carious teeth 50% Cerebral calcification 50% Mandibular prognathia 50% Peripheral neuropathy 50% Thrombocytopenia 50% Optic atrophy 7.5% Visual impairment 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Cranial hyperostosis - Dental malocclusion - Diaphyseal sclerosis - Distal renal tubular acidosis - Elevated serum acid phosphatase - Extramedullary hematopoiesis - Hepatosplenomegaly - Intellectual disability - Optic nerve compression - Osteopetrosis - Periodic hypokalemic paresis - Short stature - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal recessive 3 +"What are the symptoms of Familial erythrocytosis, 1 ?","What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Abnormality of the heme biosynthetic pathway 90% Epistaxis 90% Migraine 90% Respiratory insufficiency 90% Thrombophlebitis 90% Vertigo 90% Abdominal pain 50% Arthralgia 50% Pruritus 50% Abnormality of coagulation 7.5% Apnea 7.5% Cerebral ischemia 7.5% Autosomal dominant inheritance - Cerebral hemorrhage - Exertional dyspnea - Fatigue - Headache - Hypertension - Increased hematocrit - Increased hemoglobin - Increased red blood cell mass - Myocardial infarction - Peripheral thrombosis - Plethora - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Familial erythrocytosis, 1" +What is (are) Essential tremor ?,"Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma. Most cases of essential tremor are hereditary. There are five forms of essential tremor that are based on different genetic causes. Several genes as well as lifestyle and environmental factors likely play a role in a person's risk of developing this complex condition. In mild cases, treatment may not be necessary. In cases where symptoms interfere with daily living, medications may help to relieve symptoms.",GARD,Essential tremor +What are the symptoms of Essential tremor ?,"What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dysarthria - Hand tremor - Postural tremor - Progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Essential tremor +What causes Essential tremor ?,"What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition.",GARD,Essential tremor +Is Essential tremor inherited ?,"Is essential tremor inherited? About half of all cases of essential tremor appear to occur because of a genetic mutation. This is referred to as familial tremor. In these cases, essential tremor appears to be passed through generations in families, but the inheritance pattern varies. In many affected families, the condition appears to be inherited in an autosomal dominant manner, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, there are individuals who have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research..",GARD,Essential tremor +What are the treatments for Essential tremor ?,"How might essential tremor be treated? Treatment for essential tremor may not be necessary unless the tremors interfere with daily activities or cause embarrassment. Although there is no definitive cure for essential tremor, medicines may help relieve symptoms. How well medicines work depend on the individual patient. Two medications used to treat tremors include: Propranolol, a drug that blocks the action of stimulating substances called neurotransmitters, particularly those related to adrenaline Primidone, an antiseizure drug that also control the function of some neurotransmitters These drugs can have significant side effects. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some patients. More details about the management of essential tremor can be accessed through the following web links: http://www.mayoclinic.com/print/essential-tremor/DS00367/METHOD=print&DSECTION=all http://emedicine.medscape.com/article/1150290-treatment",GARD,Essential tremor +What is (are) Popliteal pterygium syndrome ?,"Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.",GARD,Popliteal pterygium syndrome +What are the symptoms of Popliteal pterygium syndrome ?,"What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 90% Hypertrichosis 90% Limitation of joint mobility 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Abnormality of the palpebral fissures 50% Abnormality of the ribs 50% Abnormality of the toenails 50% Bifid scrotum 50% Cryptorchidism 50% Finger syndactyly 50% Lip pit 50% Non-midline cleft lip 50% Popliteal pterygium 50% Scoliosis 50% Scrotal hypoplasia 50% Talipes 50% Choanal atresia 7.5% Cognitive impairment 7.5% Split hand 7.5% Ankyloblepharon - Autosomal dominant inheritance - Cleft upper lip - Cutaneous finger syndactyly - Dementia - Fibrous syngnathia - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Intercrural pterygium - Lower lip pit - Pyramidal skinfold extending from the base to the top of the nails - Spina bifida occulta - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Popliteal pterygium syndrome +What is (are) Limb-girdle muscular dystrophy ?,"Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.",GARD,Limb-girdle muscular dystrophy +Is Limb-girdle muscular dystrophy inherited ?,"How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.",GARD,Limb-girdle muscular dystrophy +What are the treatments for Limb-girdle muscular dystrophy ?,"How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders.",GARD,Limb-girdle muscular dystrophy +What is (are) Intellectual disability-developmental delay-contractures syndrome ?,"Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.",GARD,Intellectual disability-developmental delay-contractures syndrome +What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ?,"What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Limitation of joint mobility 90% Neurological speech impairment 90% Ophthalmoparesis 90% Skeletal muscle atrophy 90% Kyphosis 7.5% Ptosis 7.5% Scoliosis 7.5% Strabismus 7.5% Oculomotor apraxia 5% Apnea - Apraxia - Areflexia - Broad alveolar ridges - Camptodactyly - Cerebral atrophy - Congenital foot contractures - Congenital onset - Decreased fetal movement - Delayed myelination - Delayed speech and language development - Distal amyotrophy - Drooling - Dystonia - Facial palsy - Feeding difficulties - High anterior hairline - High palate - Hip dislocation - Hyperlordosis - Intellectual disability, mild - Long philtrum - Low-set ears - Muscular hypotonia - Narrow chest - Neonatal respiratory distress - Proximal placement of thumb - Retrognathia - Seizures - Short neck - Short stature - Smooth philtrum - Spasticity - Talipes equinovarus - Upslanted palpebral fissure - U-Shaped upper lip vermilion - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intellectual disability-developmental delay-contractures syndrome +Is Intellectual disability-developmental delay-contractures syndrome inherited ?,"How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. As such, males are affected by X-linked recessive disorders much more frequently than females. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Rarely, female carriers of a ZC4H2 gene mutation have been reported to exhibit mild symptoms.",GARD,Intellectual disability-developmental delay-contractures syndrome +What is (are) Carbamoyl phosphate synthetase 1 deficiency ?,"Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.",GARD,Carbamoyl phosphate synthetase 1 deficiency +What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ?,"What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Hyperammonemia 90% Muscular hypotonia 90% Respiratory insufficiency 90% Seizures 90% Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carbamoyl phosphate synthetase 1 deficiency +What is (are) Hereditary diffuse leukoencephalopathy with spheroids ?,"Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.",GARD,Hereditary diffuse leukoencephalopathy with spheroids +What are the symptoms of Hereditary diffuse leukoencephalopathy with spheroids ?,"What are the signs and symptoms of Hereditary diffuse leukoencephalopathy with spheroids? HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. This damage is thought to contribute to the symptoms see in this condition, including personality changes (including a loss of social inhibitions and depression which are among the earliest symptoms of HDLS), memory loss and loss of executive function (the ability to plan and implement actions and develop problem-solving strategies which impairs skills such as impulse control, self-monitoring, and focusing attention appropriately). Some people with HDLS have mild seizures early in the disease and may experience a severe decline in thinking and reasoning abilities (dementia) as the disease progresses. Over time, motor skills are affected, and people with HDLS may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family. Over time, almost all affected individuals become unable to walk, speak, and care for themselves. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary diffuse leukoencephalopathy with spheroids. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Apraxia - Autosomal dominant inheritance - Bradykinesia - CNS demyelination - Depression - Frontal lobe dementia - Gliosis - Hyperreflexia - Leukoencephalopathy - Memory impairment - Mutism - Neuronal loss in central nervous system - Postural instability - Rapidly progressive - Rigidity - Shuffling gait - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary diffuse leukoencephalopathy with spheroids +What causes Hereditary diffuse leukoencephalopathy with spheroids ?,"What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.",GARD,Hereditary diffuse leukoencephalopathy with spheroids +Is Hereditary diffuse leukoencephalopathy with spheroids inherited ?,"How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,Hereditary diffuse leukoencephalopathy with spheroids +"What are the symptoms of Pituitary hormone deficiency, combined 3 ?","What are the signs and symptoms of Pituitary hormone deficiency, combined 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Sensorineural hearing impairment 90% Anterior pituitary hypoplasia - Autosomal recessive inheritance - Gonadotropin deficiency - Growth hormone deficiency - Intellectual disability - Pituitary dwarfism - Short neck - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pituitary hormone deficiency, combined 3" +"What are the symptoms of Pituitary hormone deficiency, combined 4 ?","What are the signs and symptoms of Pituitary hormone deficiency, combined 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Small sella turcica 5% Adrenal insufficiency - Autosomal dominant inheritance - Autosomal recessive inheritance - Hypoglycemia - Hypothyroidism - Marked delay in bone age - Pituitary dwarfism - Severe postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pituitary hormone deficiency, combined 4" +What are the symptoms of Spastic paraplegia 2 ?,"What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hyperreflexia 90% Muscle weakness 90% Abnormal renal physiology 50% Abnormality of extrapyramidal motor function 50% Bowel incontinence 50% Cognitive impairment 50% Optic atrophy 50% Incoordination 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Pulmonary embolism 7.5% Recurrent respiratory infections 7.5% Babinski sign - Degeneration of the lateral corticospinal tracts - Dysarthria - Dysmetria - Flexion contracture - Intellectual disability - Juvenile onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Phenotypic variability - Skeletal muscle atrophy - Spastic gait - Spastic paraparesis - Spastic paraplegia - Spinocerebellar tract degeneration - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 2 +"What are the symptoms of Premature ovarian failure, familial ?","What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Increased circulating gonadotropin level - Menstrual irregularities - Premature ovarian failure - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Premature ovarian failure, familial" +What is (are) Mikulicz disease ?,"Mikulicz disease is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids), around the eyes (lacrimal), and around the mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck can also be affected. Although this condition is usually benign, it always occurs in association with another underlying disorder such as tuberculosis, leukemia, syphilis, Hodgkin's disease, Sjogren syndrome, or systemic lupus erythematosus. People with Mikulicz disease are at greater risk of developing lymphomas. Some people may experience recurring fevers accompanied by dry eyes, diminished tear production, and inflammation of various parts of the eyes (uveitis). The exact cause of Mikulicz syndrome is unknown. But some researchers believe that it should be considered a form of Sjogren syndrome.",GARD,Mikulicz disease +"What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ?","What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Subcutaneous hemorrhage 90% Palmoplantar keratoderma 50% Skin ulcer 50% Abnormality of skin pigmentation 7.5% Abnormality of the oral cavity 7.5% Constipation 7.5% Feeding difficulties in infancy 7.5% Neoplasm of the skin 7.5% Atrophic scars 5% Autosomal dominant inheritance - Growth delay - Milia - Nail dysplasia - Nail dystrophy - Neonatal onset - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa simplex, Dowling-Meara type" +What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ?,"What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute infantile spinal muscular atrophy - Autosomal recessive inheritance - Multiple prenatal fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinal muscular atrophy type 1 with congenital bone fractures +What are the symptoms of Syngnathia multiple anomalies ?,"What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth 90% Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 90% Cognitive impairment 90% Facial palsy 90% Iris coloboma 90% Microcephaly 90% Narrow mouth 90% Nystagmus 90% Respiratory insufficiency 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Trismus 90% Vertebral segmentation defect 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syngnathia multiple anomalies +What is (are) Squamous cell carcinoma of the head and neck ?,"Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.",GARD,Squamous cell carcinoma of the head and neck +What are the symptoms of White sponge nevus of cannon ?,"What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Oral leukoplakia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,White sponge nevus of cannon +What are the symptoms of De Sanctis-Cacchione syndrome ?,"What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Choreoathetosis - Conjunctivitis - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - Dermal atrophy - Ectropion - Entropion - Gonadal hypoplasia - Hyporeflexia - Intellectual disability - Keratitis - Mental deterioration - Microcephaly - Olivopontocerebellar atrophy - Photophobia - Poikiloderma - Sensorineural hearing impairment - Severe short stature - Spasticity - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,De Sanctis-Cacchione syndrome +What are the symptoms of Carpotarsal osteochondromatosis ?,"What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carpotarsal osteochondromatosis +What are the symptoms of Achromatopsia 3 ?,"What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Achromatopsia - Autosomal recessive inheritance - Cataract - Dyschromatopsia - Horizontal pendular nystagmus - Monochromacy - Photophobia - Severe Myopia - Severe visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achromatopsia 3 +What is (are) Danon disease ?,"Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.",GARD,Danon disease +What are the symptoms of Danon disease ?,"What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). Men with Danon disease tend to develop cardiomyopathy prior to the age of 20, and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood, however cases of cardiomyopathy in young girls have been reported in the medical literature. Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms. The following additional signs and symptoms are variably present in people with Danon disease: Learning and development (primarily reported in males, however there has been at least one report of an affected female) Mild intellectual ability Mental retardation Attention deficit disorder Skeletal muscle Exercise intolerance Muscle weakness Eye and vision Peripheral pigmentary retinopathy Lens changes Nearsightedness Abnormal visual fields Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card The Human Phenotype Ontology provides the following list of signs and symptoms for Danon disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Gait disturbance 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Sudden cardiac death 90% Intellectual disability 70% Arrhythmia - Cardiomegaly - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise intolerance - Exercise-induced muscle cramps - Generalized amyotrophy - Hypokinesia - Myocardial fibrosis - Myocardial necrosis - Pes cavus - Phenotypic variability - Proximal muscle weakness - Visual impairment - Wolff-Parkinson-White syndrome - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Danon disease +What causes Danon disease ?,What causes Danon disease? Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for lysosomal-associated membrane protein 2.,GARD,Danon disease +Is Danon disease inherited ?,How is Danon disease inherited? Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance.,GARD,Danon disease +How to diagnose Danon disease ?,Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.,GARD,Danon disease +What are the treatments for Danon disease ?,"How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.",GARD,Danon disease +What are the symptoms of Lissencephaly 1 ?,"What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lissencephaly 1 +What are the symptoms of Glaucoma sleep apnea ?,"What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glaucoma sleep apnea +What are the symptoms of Corneal dystrophy crystalline of Schnyder ?,"What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Crystalline corneal dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneal dystrophy crystalline of Schnyder +"What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ?","What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment - Hypoglycemia - Intellectual disability - Intrauterine growth retardation - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dwarfism, low-birth-weight type with unresponsiveness to growth hormone" +What are the symptoms of Spastic paraplegia 26 ?,"What are the signs and symptoms of Spastic paraplegia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Decreased serum testosterone level 5% Nystagmus 5% Urinary urgency 5% Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Difficulty walking - Distal amyotrophy - Dysarthria - Dyskinesia - Dysmetria - Dystonia - Emotional lability - Frequent falls - Hyperreflexia - Intellectual disability, mild - Lower limb spasticity - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic gait - Spastic paraplegia - Toe walking - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 26 +What are the symptoms of Hyperinsulinemic hypoglycemia familial 2 ?,"What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hyperinsulinemic hypoglycemia - Hypoglycemia - Large for gestational age - Pancreatic islet-cell hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperinsulinemic hypoglycemia familial 2 +What is (are) Chester porphyria ?,Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.,GARD,Chester porphyria +What are the symptoms of Intellectual deficit - short stature - hypertelorism ?,"What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Broad forehead 90% Frontal bossing 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Long philtrum 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intellectual deficit - short stature - hypertelorism +What are the symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ?,"What are the signs and symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lower motor neuron morphology - Amyotrophic lateral sclerosis - Bulbar palsy - Dementia - Muscle cramps - Muscle weakness - Parkinsonism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 +What are the symptoms of Osteogenesis imperfecta type V ?,"What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blue sclerae 5% Dentinogenesis imperfecta 5% Joint hypermobility 5% Abnormality of metabolism/homeostasis - Abnormality of pelvic girdle bone morphology - Anterior radial head dislocation - Autosomal dominant inheritance - Biconcave vertebral bodies - Hyperplastic callus formation - Limited pronation/supination of forearm - Osteopenia - Platyspondyly - Recurrent fractures - Short stature - Triangular face - Vertebral wedging - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type V +What are the symptoms of Myopathy congenital ?,"What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal recessive inheritance - Myopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myopathy congenital +What is (are) West syndrome ?,"West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found.",GARD,West syndrome +What are the symptoms of West syndrome ?,"What are the signs and symptoms of West syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for West syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Seizures 90% Choreoathetosis - Dysphagia - Dyspnea - Dystonia - Epileptic encephalopathy - Generalized myoclonic seizures - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Microcephaly - Muscular hypotonia of the trunk - Spasticity - Ventriculomegaly - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,West syndrome +What are the symptoms of Cardiocranial syndrome ?,"What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Craniosynostosis 90% Dolichocephaly 90% External ear malformation 90% Hypertelorism 90% Laryngomalacia 90% Low-set, posteriorly rotated ears 90% Short stature 90% Tracheomalacia 90% Trismus 90% Abnormal localization of kidney 50% Atria septal defect 50% Camptodactyly of finger 50% Cryptorchidism 50% Exaggerated cupid's bow 50% Hypoplasia of penis 50% Limitation of joint mobility 50% Polyhydramnios 50% Ptosis 50% Tetralogy of Fallot 50% Vesicoureteral reflux 50% Renal hypoplasia/aplasia 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the tracheobronchial system - Autosomal recessive inheritance - Growth delay - Intellectual disability - Micropenis - Microphallus - Sagittal craniosynostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cardiocranial syndrome +What are the symptoms of Krabbe disease atypical due to Saposin A deficiency ?,"What are the signs and symptoms of Krabbe disease atypical due to Saposin A deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Krabbe disease atypical due to Saposin A deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Central apnea - Cerebral dysmyelination - Death in childhood - Global brain atrophy - Hypertonia - Hyporeflexia - Increased CSF protein - Infantile onset - Respiratory failure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Krabbe disease atypical due to Saposin A deficiency +What are the symptoms of Hooft disease ?,"What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Growth abnormality - Intellectual disability - Leukonychia - Tapetoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hooft disease +What are the symptoms of ACTH-independent macronodular adrenal hyperplasia ?,"What are the signs and symptoms of ACTH-independent macronodular adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for ACTH-independent macronodular adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypercortisolism 90% Round face 90% Thin skin 90% Truncal obesity 90% Abnormality of the menstrual cycle 50% Behavioral abnormality 50% Bruising susceptibility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Muscle weakness 50% Nephrolithiasis 50% Reduced bone mineral density 50% Meningioma 7.5% Adult onset - Agitation - Anxiety - Autosomal dominant inheritance - Decreased circulating ACTH level - Depression - Increased circulating cortisol level - Kyphosis - Macronodular adrenal hyperplasia - Mental deterioration - Mood changes - Neoplasm - Osteopenia - Osteoporosis - Primary hypercorticolism - Psychosis - Skeletal muscle atrophy - Sporadic - Striae distensae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ACTH-independent macronodular adrenal hyperplasia +What are the symptoms of Cutaneous mastocytoma ?,"What are the signs and symptoms of Cutaneous mastocytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Thickened skin 50% Abdominal pain 7.5% Impaired temperature sensation 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cutaneous mastocytoma +What is (are) Gamma heavy chain disease ?,"Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body. Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder.",GARD,Gamma heavy chain disease +What are the symptoms of Gamma heavy chain disease ?,"What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly).",GARD,Gamma heavy chain disease +What causes Gamma heavy chain disease ?,What causes gamma heavy chain disease? The causes or risk factors for gamma heavy chain disease are not known.,GARD,Gamma heavy chain disease +What are the treatments for Gamma heavy chain disease ?,"How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using ""gamma heavy chain disease [ti] AND treatment"" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.",GARD,Gamma heavy chain disease +What are the symptoms of Tukel syndrome ?,"What are the signs and symptoms of Tukel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Carpal bone aplasia - Carpal synostosis - Compensatory chin elevation - Congenital fibrosis of extraocular muscles - Nonprogressive restrictive external ophthalmoplegia - Postaxial oligodactyly - Ptosis - Restrictive external ophthalmoplegia - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tukel syndrome +What is (are) Senior Loken Syndrome ?,"Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. These microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Senior Loken syndrome is inherited in an autosomal recessive pattern.",GARD,Senior Loken Syndrome +What are the symptoms of Senior Loken Syndrome ?,"What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hypertension 90% Multicystic kidney dysplasia 90% Polycystic kidney dysplasia 90% Short stature 90% Visual impairment 90% Abnormality of the renal tubule 50% Abnormality of bone mineral density 7.5% Cataract 7.5% Cone-shaped epiphysis 7.5% Congenital hepatic fibrosis 7.5% Incoordination 7.5% Anemia - Autosomal recessive inheritance - Heterogeneous - Nephronophthisis - Polydipsia - Polyuria - Stage 5 chronic kidney disease - Tapetoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Senior Loken Syndrome +What is (are) Sarcoidosis ?,"Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. The granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. Although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system. The course of the disease varies from person to person. It often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. For those who need treatment, anti-inflammatory medications and immunosuppressants can help.",GARD,Sarcoidosis +What are the symptoms of Sarcoidosis ?,"What are the signs and symptoms of Sarcoidosis? Many people who have sarcoidosis don't have symptoms. Others may feel like they are coming down with the flu or a respiratory infection. While almost any body part or system can be affected, the lungs are most commonly involved. If granulomas form in the lungs, symptoms may include shortness of breath (dyspnea), a cough that won't go away, and chest pain. Some people feel very tired, uneasy, or depressed. Night sweats and weight loss are also common. Sarcoidosis can also cause the following: Skin rashes, ulcers or discoloration Joint stiffness or pain Enlarged lymph nodes Enlarged liver or spleen Vision problems, eye dryness or irritation Headaches, seizures, or weakness on one side of the face Aches and pains in the muscles and bones Abnormal heart beats Kidney stones The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcoidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 7.5% Splenomegaly 7.5% Optic neuropathy 5% Abnormality of the mouth - Anorexia - Arthritis - Blurred vision - Bone cyst - Cough - Dyspnea - Elevated erythrocyte sedimentation rate - Enlarged lacrimal glands - Exaggerated cellular immune processes - Fever - Generalized lymphadenopathy - Glaucoma - Hypercalciuria - Increased antibody level in blood - Inflammation of the large intestine - Interstitial pulmonary disease - Iridocyclitis - Pancytopenia - Photophobia - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sarcoidosis +What causes Sarcoidosis ?,"What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.",GARD,Sarcoidosis +What are the treatments for Sarcoidosis ?,"What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on : the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. Others may not need to be treated. Usually, if a patient doesn't have symptoms, he or she doesn't need treatment, and probably will recover in time. Currently, the drug that is most commonly used to treat sarcoidosis is prednisone. When a patient's condition gets worse when taking prednisone or when the side effects of prednisone are severe in the patient, a doctor may prescribe other drugs. Most of these other drugs reduce inflammation by suppressing the immune system. These other drugs include: hydroxychloroquine (Plaquenil), methotrexate, azathioprine (Imuran), and cyclophosphamide (Cytoxan). Researchers continue to look for new and better treatments for sarcoidosis. Anti-tumor necrosis factor drugs and antibiotics are currently being studied. More detailed information about the treatment of sarcoidosis can be found at the following links: https://www.stopsarcoidosis.org/awareness/treatment-options/ http://emedicine.medscape.com/article/301914-treatment#showall",GARD,Sarcoidosis +What is (are) Polycystic ovarian syndrome ?,"Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors. Treatment for PCOS may involve birth control pills and medications for diabetes and infertility. Medicines called anti-androgens are also used to speed the growth of hair and clear acne.",GARD,Polycystic ovarian syndrome +What are the symptoms of Polycystic ovarian syndrome ?,"What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Amenorrhea - Autosomal dominant inheritance - Enlarged polycystic ovaries - Hirsutism - Obesity - Oligomenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polycystic ovarian syndrome +What are the symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly ?,"What are the signs and symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal dysplasia maxillary hypoplasia brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the humerus 50% Camptodactyly of finger 50% Craniofacial hyperostosis 50% Reduced bone mineral density 50% Cerebral cortical atrophy 7.5% Recurrent fractures 7.5% Autosomal dominant inheritance - Flared metaphysis - Hypoplasia of the maxilla - Metaphyseal dysplasia - Multiple small vertebral fractures - Osteoporosis of vertebrae - Platyspondyly - Premature loss of teeth - Short 5th metacarpal - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metaphyseal dysplasia maxillary hypoplasia brachydactyly +What is (are) Factor V deficiency ?,"Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.",GARD,Factor V deficiency +What are the symptoms of Factor V deficiency ?,"What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontology provides the following list of signs and symptoms for Factor V deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Autosomal recessive inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Prolonged bleeding time - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor V activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Factor V deficiency +What causes Factor V deficiency ?,"What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally.",GARD,Factor V deficiency +What are the treatments for Factor V deficiency ?,How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.,GARD,Factor V deficiency +What are the symptoms of Growth hormone insensitivity with immunodeficiency ?,"What are the signs and symptoms of Growth hormone insensitivity with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Growth hormone insensitivity with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of lipid metabolism 90% Insulin resistance 90% Microcephaly 90% Short stature 90% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Fine hair 50% Hypoglycemia 50% Hypoplasia of penis 50% Type II diabetes mellitus 50% Abnormality of immune system physiology 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the nail 7.5% Abnormality of the voice 7.5% Cognitive impairment 7.5% Diabetes insipidus 7.5% Hearing impairment 7.5% Truncal obesity 7.5% Growth hormone deficiency - Respiratory difficulties - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Growth hormone insensitivity with immunodeficiency +What are the symptoms of Desmosterolosis ?,"What are the signs and symptoms of Desmosterolosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmosterolosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cleft palate 90% Cognitive impairment 90% Hypertonia 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Abnormality of the ribs 50% Aplasia/Hypoplasia involving the nose 50% Depressed nasal bridge 50% Large earlobe 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Nystagmus 50% Seizures 50% Strabismus 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Anomalous pulmonary venous return 7.5% Aplasia/Hypoplasia of the skin 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hydrocephalus 7.5% Increased bone mineral density 7.5% Intestinal malrotation 7.5% Limb undergrowth 7.5% Macrocephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Talipes 7.5% Abnormality of cholesterol metabolism 2/2 Aplasia/Hypoplasia of the corpus callosum 2/2 Cleft palate 2/2 Alveolar ridge overgrowth 1/2 Ambiguous genitalia, female 1/2 Ambiguous genitalia, male 1/2 Bilateral talipes equinovarus 1/2 Cupped ear 1/2 Epicanthus 1/2 Frontal bossing 1/2 Generalized osteosclerosis 1/2 Gingival fibromatosis 1/2 Hypoplastic nasal bridge 1/2 Joint contracture of the hand 1/2 Low-set ears 1/2 Macrocephaly 1/2 Microcephaly 1/2 Patent ductus arteriosus 1/2 Posteriorly rotated ears 1/2 Rhizomelia 1/2 Total anomalous pulmonary venous return 1/2 Anteverted nares - Autosomal recessive inheritance - Failure to thrive - Partial agenesis of the corpus callosum - Phenotypic variability - Relative macrocephaly - Short nose - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Desmosterolosis +What is (are) Binswanger's disease ?,"Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking). While there is no cure, the progression of Binswanger's disease can be slowed with healthy lifestyle choices. Treatment is based on the signs and symptoms present in each person.",GARD,Binswanger's disease +What are the symptoms of Binswanger's disease ?,"What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to ""executive cognitive functioning,"" including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease.",GARD,Binswanger's disease +What causes Binswanger's disease ?,"What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus",GARD,Binswanger's disease +Is Binswanger's disease inherited ?,"Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots).",GARD,Binswanger's disease +How to diagnose Binswanger's disease ?,How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan).,GARD,Binswanger's disease +What are the treatments for Binswanger's disease ?,"How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes can slow the progression of atherosclerosis, which can delay the progression of Binswanger's disease.",GARD,Binswanger's disease +What is (are) Gamma aminobutyric acid transaminase deficiency ?,"GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1] The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities.[1] GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature.[2] It is thought to be inherited in an autosomal recessive manner.[3][4]",GARD,Gamma aminobutyric acid transaminase deficiency +What are the symptoms of Choroidal dystrophy central areolar ?,"What are the signs and symptoms of Choroidal dystrophy central areolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroidal dystrophy central areolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Choriocapillaris atrophy - Chorioretinal atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Choroidal dystrophy central areolar +What are the symptoms of Xeroderma pigmentosum type 7 ?,"What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Cataract 5% Growth delay 5% Microcephaly 5% Microphthalmia 5% Pes cavus 5% Spasticity 5% Tremor 5% Autosomal recessive inheritance - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Xeroderma pigmentosum type 7 +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal sensory impairment - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Onion bulb formation - Onset - Pes cavus - Segmental peripheral demyelination - Segmental peripheral demyelination/remyelination - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A +What is (are) Familial hemiplegic migraine type 3 ?,"Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.",GARD,Familial hemiplegic migraine type 3 +What are the symptoms of Familial hemiplegic migraine type 3 ?,"What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hemiplegic migraine type 3 +What is (are) Giant axonal neuropathy ?,"Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance. Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development.",GARD,Giant axonal neuropathy +What are the symptoms of Giant axonal neuropathy ?,"What are the signs and symptoms of Giant axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Abnormal pyramidal signs - Abnormality of the cerebellum - Abnormality of the hand - Areflexia of lower limbs - Autosomal recessive inheritance - Curly hair - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Facial palsy - Hyperreflexia - Hyporeflexia of lower limbs - Juvenile onset - Morphological abnormality of the pyramidal tract - Motor axonal neuropathy - Nystagmus - Pes cavus - Pes planus - Phenotypic variability - Proximal muscle weakness - Scoliosis - Sensory axonal neuropathy - Slow progression - Spastic paraplegia - Steppage gait - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Giant axonal neuropathy +What are the symptoms of Cobb syndrome ?,"What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arteriovenous malformation 90% Arthralgia 90% Bone pain 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Lymphangioma 90% Morphological abnormality of the central nervous system 90% Visceral angiomatosis 90% Hyperkeratosis 50% Multiple lipomas 50% Abnormality of the urinary system 7.5% Congestive heart failure 7.5% Gangrene 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cobb syndrome +What is (are) Progressive familial intrahepatic cholestasis type 2 ?,"Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.",GARD,Progressive familial intrahepatic cholestasis type 2 +What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ?,"What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Conjugated hyperbilirubinemia - Death in childhood - Diarrhea - Elevated alkaline phosphatase - Failure to thrive - Fat malabsorption - Hepatocellular carcinoma - Hepatomegaly - Infantile onset - Intermittent jaundice - Intrahepatic cholestasis - Pruritus - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive familial intrahepatic cholestasis type 2 +What are the symptoms of Spinocerebellar ataxia 10 ?,"What are the signs and symptoms of Spinocerebellar ataxia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Cerebellar atrophy - Decreased nerve conduction velocity - Dementia - Depression - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Gait ataxia - Genetic anticipation - Hyperreflexia - Incomplete penetrance - Incoordination - Limb ataxia - Morphological abnormality of the pyramidal tract - Nystagmus - Progressive cerebellar ataxia - Scanning speech - Seizures - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 10 +What are the symptoms of Spinal muscular atrophy Ryukyuan type ?,"What are the signs and symptoms of Spinal muscular atrophy Ryukyuan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy Ryukyuan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Fasciculations - Infantile onset - Kyphoscoliosis - Pes cavus - Proximal amyotrophy - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinal muscular atrophy Ryukyuan type +What are the symptoms of Cleidorhizomelic syndrome ?,"What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Single transverse palmar crease 50% Autosomal dominant inheritance - Rhizomelia - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleidorhizomelic syndrome +What are the symptoms of Isolated anterior cervical hypertrichosis ?,"What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the neck 90% Hypertrichosis 90% Cubitus valgus 7.5% Delayed skeletal maturation 7.5% Hypothyroidism 7.5% Low-set, posteriorly rotated ears 7.5% Short stature 7.5% Anterior cervical hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isolated anterior cervical hypertrichosis +What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ?,"What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Cerebral hemorrhage - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pheochromocytoma-islet cell tumor syndrome +What is (are) Heparin-induced thrombocytopenia ?,"Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy. The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants).",GARD,Heparin-induced thrombocytopenia +What is (are) Fibrodysplasia ossificans progressiva ?,"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a mutation at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.",GARD,Fibrodysplasia ossificans progressiva +What are the symptoms of Fibrodysplasia ossificans progressiva ?,"What are the signs and symptoms of Fibrodysplasia ossificans progressiva? Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. The formation of extra-skeletal bone causes progressive loss of mobility as the joints become affected. Speaking and eating may also become difficult as the mouth becomes affected. Over time, people with FOP may become malnourished because of the inability to eat. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with FOP (a fall or an invasive medical procedure) may trigger episodes of muscle swelling and inflammation followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as the flu. People with FOP are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrodysplasia ossificans progressiva. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% Ectopic calcification 90% Limitation of joint mobility 90% Short hallux 90% Spinal rigidity 90% Clinodactyly of the 5th finger 50% Respiratory insufficiency 50% Anemia 7.5% Cognitive impairment 7.5% Glaucoma 7.5% Hallux valgus 7.5% Seizures 7.5% Intellectual disability 6% Abnormality of the first metatarsal bone - Alopecia - Autosomal dominant inheritance - Broad femoral neck - Conductive hearing impairment - Ectopic ossification in ligament tissue - Ectopic ossification in muscle tissue - Ectopic ossification in tendon tissue - Metaphyseal widening - Progressive cervical vertebral spine fusion - Respiratory failure - Scoliosis - Sensorineural hearing impairment - Short 1st metacarpal - Small cervical vertebral bodies - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fibrodysplasia ossificans progressiva +Is Fibrodysplasia ossificans progressiva inherited ?,"How is fibrodysplasia ossificans progressiva inherited? Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In only a small number of cases, an affected person has inherited the mutation from one affected parent.",GARD,Fibrodysplasia ossificans progressiva +What are the treatments for Fibrodysplasia ossificans progressiva ?,"How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment. However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva. Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician. Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.",GARD,Fibrodysplasia ossificans progressiva +What is (are) Hanhart syndrome ?,"Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.",GARD,Hanhart syndrome +What are the symptoms of Hanhart syndrome ?,"What are the signs and symptoms of Hanhart syndrome? The signs and symptoms of Hanhart syndrome vary, but may include: Small mouth Short, incompletely developed tongue (hypoglossia) Absent, partially missing, or shortened fingers and/or toes Jaw abnormalities such as micrognathia, retrognathia (receding jaw), or partially missing mandible (lower jaw) High-arched, narrow, or cleft palate Absent or unusually formed arms and/or legs Missing teeth Absence of major salivary glands Some infants with Hanhart syndrome may be born with paralysis of certain areas of the face. If the tongue and/or mouth are affected, this can worsen feeding difficulties that are already present due to the craniofacial abnormalities listed above. The severity of the physical abnormalities associated with Hanhart syndrome varies greatly among affected people, and children with this disorder often have some, but not all, of the symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Hanhart syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Narrow mouth 90% Upper limb phocomelia 90% Abnormality of the fingernails 50% Brachydactyly syndrome 50% Cleft palate 50% Finger syndactyly 50% Reduced number of teeth 50% Short distal phalanx of finger 50% Split hand 50% Telecanthus 50% Wide nasal bridge 50% Abnormality of the cranial nerves 7.5% Cognitive impairment 7.5% Facial asymmetry 7.5% Gastroschisis 7.5% Neurological speech impairment 7.5% Urogenital fistula 7.5% Abnormality of oral frenula - Adactyly - Aglossia - Autosomal dominant inheritance - Epicanthus - Microglossia - Retrognathia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hanhart syndrome +What causes Hanhart syndrome ?,"What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. Possible environmental factors including: Exposure of the pregnant mother to radiation, teratogenic medications, or hypothermia Trauma or disrupted blood flow to the baby in the womb Chorionic villus sampling procedures (when performed too early in the pregnancy)",GARD,Hanhart syndrome +How to diagnose Hanhart syndrome ?,"How is Hanhart syndrome diagnosed? A diagnosis of Hanhart syndrome is typically made based on the presence of characteristic signs and symptoms. In some cases, the diagnosis may be suspected before birth if concerning features are seen on ultrasound.",GARD,Hanhart syndrome +What are the treatments for Hanhart syndrome ?,"How is Hanhart syndrome treated? Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies because it depends on the signs and symptoms present in each person. For example, limb and/or craniofacial abnormalities may be treated with surgery and/or prostheses. Affected children may also need speech therapy, physical therapy, and/or occupational therapy.",GARD,Hanhart syndrome +What are the symptoms of Renal dysplasia-limb defects syndrome ?,"What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal dysplasia-limb defects syndrome +What is (are) Cri du chat syndrome ?,"Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited.",GARD,Cri du chat syndrome +What are the symptoms of Cri du chat syndrome ?,"What are the signs and symptoms of Cri du chat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cri du chat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the voice 90% Cognitive impairment 90% Epicanthus 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Muscular hypotonia 90% Round face 90% Wide nasal bridge 90% Abnormality of the palate 50% Hypertelorism 50% Intrauterine growth retardation 50% Scoliosis 50% Short neck 50% Short palm 50% Short stature 50% Abnormality of bone mineral density 7.5% Finger syndactyly 7.5% Hernia of the abdominal wall 7.5% Joint hypermobility 7.5% Preauricular skin tag 7.5% Recurrent fractures 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the pinna - Aggressive behavior - Anterior open-bite malocclusion - Anxiety - Autism - Bifid uvula - Cat cry - Cataract - Conspicuously happy disposition - Cryptorchidism - Delayed speech and language development - Diastasis recti - Difficulty walking - Downturned corners of mouth - Echolalia - Facial asymmetry - Facial grimacing - Feeding difficulties in infancy - Functional respiratory abnormality - Gastroesophageal reflux - Growth delay - Hearing impairment - High axial triradius - High palate - Hyperactivity - Hyperacusis - Hypertonia - Hypospadias - Inguinal hernia - Intellectual disability - Long face - Low-set ears - Microretrognathia - Myopia - Narrow face - Neonatal hypotonia - Oppositional defiant disorder - Optic atrophy - Oral cleft - Overfriendliness - Pes planus - Premature graying of hair - Prominent supraorbital ridges - Recurrent infections in infancy and early childhood - Self-mutilation - Short attention span - Short metacarpal - Short metatarsal - Short philtrum - Single transverse palmar crease - Small for gestational age - Sporadic - Stenosis of the external auditory canal - Stereotypic behavior - Strabismus - Syndactyly - Thick lower lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cri du chat syndrome +What causes Cri du chat syndrome ?,"What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.",GARD,Cri du chat syndrome +Is Cri du chat syndrome inherited ?,"Is cri du chat syndrome inherited? Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family. About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder.",GARD,Cri du chat syndrome +What are the treatments for Cri du chat syndrome ?,"How might cri du chat syndrome be treated? While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education). Because symptoms may vary from individual to individual, we recommend discussing these options with a health care professional to develop a personalized plan for therapy.",GARD,Cri du chat syndrome +What are the symptoms of Ichthyosis follicularis atrichia photophobia syndrome ?,"What are the signs and symptoms of Ichthyosis follicularis atrichia photophobia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis follicularis atrichia photophobia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Cryptorchidism 90% Dry skin 90% Hydrocephalus 90% Ichthyosis 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Optic atrophy 90% Photophobia 90% Renal hypoplasia/aplasia 90% Seizures 90% Abnormality of the fingernails 50% Aganglionic megacolon 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Convex nasal ridge 50% Developmental regression 50% Eczema 50% Hearing impairment 50% Hypohidrosis 50% Intrauterine growth retardation 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Postaxial hand polydactyly 50% Recurrent respiratory infections 50% Scoliosis 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Abnormality of dental enamel 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Astigmatism 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cheilitis 7.5% Choanal atresia 7.5% Delayed skeletal maturation 7.5% Frontal bossing 7.5% Inflammatory abnormality of the eye 7.5% Kyphosis 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Myopia 7.5% Nystagmus 7.5% Omphalocele 7.5% Opacification of the corneal stroma 7.5% Platyspondyly 7.5% Short stature 7.5% Split hand 7.5% Urticaria 7.5% Hip dislocation 5% Abnormality of the ribs - Abnormality of the vertebrae - Absent eyebrow - Absent eyelashes - Brain atrophy - Congenital onset - Ectodermal dysplasia - Erythroderma - Follicular hyperkeratosis - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Nail dysplasia - Nail dystrophy - Oligohydramnios - Olivopontocerebellar atrophy - Recurrent corneal erosions - Renal dysplasia - Scaling skin - Umbilical hernia - Unilateral chest hypoplasia - Unilateral renal agenesis - Variable expressivity - Ventriculomegaly - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis follicularis atrichia photophobia syndrome +What are the symptoms of Brachydactyly type A6 ?,"What are the signs and symptoms of Brachydactyly type A6? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vertebral column - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Bipartite calcaneus - Broad finger - Broad toe - Carpal synostosis - Decreased finger mobility - Dysplastic distal radial epiphyses - Fibular hypoplasia - Hypoplasia of the radius - Hypoplasia of the ulna - Mesomelia - Radial deviation of finger - Short phalanx of finger - Short stature - Short tibia - Short toe - Tarsal synostosis - Type A brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type A6 +What are the symptoms of Familial hyperthyroidism due to mutations in TSH receptor ?,"What are the signs and symptoms of Familial hyperthyroidism due to mutations in TSH receptor? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperthyroidism due to mutations in TSH receptor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Accelerated skeletal maturation - Autosomal dominant inheritance - Delayed speech and language development - Goiter - Hyperactivity - Hyperthyroidism - Intellectual disability - Motor delay - Premature birth - Small for gestational age - Sporadic - Tachycardia - Thyroid hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hyperthyroidism due to mutations in TSH receptor +What are the symptoms of Akesson syndrome ?,"What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocrine system - Cutis gyrata of scalp - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Akesson syndrome +What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia joint laxity +What are the symptoms of 8q12 microduplication syndrome ?,"What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Blepharophimosis 90% Cognitive impairment 90% Highly arched eyebrow 90% Muscular hypotonia 90% Sensorineural hearing impairment 90% Strabismus 90% Ventricular septal defect 90% Abnormality of calvarial morphology 50% Abnormality of the cranial nerves 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Epicanthus 50% Long philtrum 50% Narrow mouth 50% Short toe 50% Telecanthus 50% Vesicoureteral reflux 50% Wide nasal bridge 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,8q12 microduplication syndrome +What is (are) Precocious puberty ?,"Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always known. Some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. Treatment involves medications that can stop the release of sexual hormones.",GARD,Precocious puberty +What are the symptoms of Precocious puberty ?,"What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Precocious puberty +What are the treatments for Precocious puberty ?,"What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels. Additionally, there is little evidence suggesting that long term hormone treatment is associated with psychological or behavioral problems. More studies are needed to determine this association.",GARD,Precocious puberty +What are the symptoms of Red cell phospholipid defect with hemolysis ?,"What are the signs and symptoms of Red cell phospholipid defect with hemolysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Red cell phospholipid defect with hemolysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hyperbilirubinemia - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Red cell phospholipid defect with hemolysis +What are the symptoms of Florid papillomatosis of the nipple ?,"What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Florid papillomatosis of the nipple +What are the symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV ?,"What are the signs and symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Abnormality of the metacarpal bones 50% Anonychia 50% Camptodactyly of finger 50% Hypoplastic toenails 50% Postaxial foot polydactyly 50% Split foot 50% Symphalangism affecting the phalanges of the hand 50% Toe syndactyly 50% Kyphoscoliosis 5% Aplasia/Hypoplasia of toe - Autosomal dominant inheritance - Cognitive impairment - Cutaneous finger syndactyly - Duplication of metatarsal bones - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aphalangia partial with syndactyly and duplication of metatarsal IV +What is (are) Creutzfeldt-Jakob disease ?,"Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible.",GARD,Creutzfeldt-Jakob disease +What are the symptoms of Creutzfeldt-Jakob disease ?,"What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms. As the illness progresses, the patients mental impairment becomes severe. They often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these patients and can lead to death. There are several known variants of CJD. These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France-begins primarily with psychiatric symptoms, affects younger patients than other types of CJD, and has a longer than usual duration from onset of symptoms to death. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to learn what causes these variations in the symptoms and course of the disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Creutzfeldt-Jakob disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased CSF protein 5% Anxiety - Apathy - Aphasia - Autosomal dominant inheritance - Confusion - Delusions - Dementia - Depression - Extrapyramidal muscular rigidity - Gait ataxia - Hallucinations - Hemiparesis - Irritability - Loss of facial expression - Memory impairment - Myoclonus - Personality changes - Rapidly progressive - Supranuclear gaze palsy - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Creutzfeldt-Jakob disease +What causes Creutzfeldt-Jakob disease ?,"What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that are unusual for known organisms such as viruses and bacteria. It is difficult to kill, it does not appear to contain any genetic information in the form of nucleic acids (DNA or RNA), and it usually has a long incubation period before symptoms appear. In some cases, the incubation period may be as long as 40 years. The leading scientific theory at this time maintains that CJD and the other TSEs are caused by a type of protein called a prion. Prion proteins occur in both a normal form, which is a harmless protein found in the bodys cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein have the same sequence of amino acids (the 'building blocks' of proteins) but the infectious form of the protein takes a different folded shape than the normal protein. Sporadic CJD may develop because some of a persons normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Once they appear, abnormal prion proteins aggregate, or clump together. Investigators think these protein aggregates may lead to the neuron loss and other brain damage seen in CJD. However, they do not know exactly how this damage occurs. About 5 to 10 percent of all CJD cases are inherited. These cases arise from a mutation, or change, in the gene that controls formation of the normal prion protein. While prions themselves do not contain genetic information and do not require genes to reproduce themselves, infectious prions can arise if a mutation occurs in the gene for the bodys normal prion protein. If the prion protein gene is altered in a persons sperm or egg cells, the mutation can be transmitted to the persons offspring. Several different mutations in the prion gene have been identified. The particular mutation found in each family affects how frequently the disease appears and what symptoms are most noticeable. However, not all people with mutations in the prion protein gene develop CJD.",GARD,Creutzfeldt-Jakob disease +How to diagnose Creutzfeldt-Jakob disease ?,"How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.",GARD,Creutzfeldt-Jakob disease +What are the treatments for Creutzfeldt-Jakob disease ?,"How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, so far none of these treatments has shown any consistent benefit in humans. Current treatment for CJD is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus. During later stages of the disease, changing the persons position frequently can keep him or her comfortable and helps prevent bedsores. A catheter can be used to drain urine if the patient cannot control bladder function, and intravenous fluids and artificial feeding also may be used.",GARD,Creutzfeldt-Jakob disease +What is (are) Inflammatory linear verrucous epidermal nevus ?,"Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to early childhood. It affects females more often than males. It usually occurs alone. Rarely ILVEN occurs in association with epidermal nevus syndrome. While rare ILVEN may become cancerous (i.e., transform to basal cell or squamous cell carcinoma). The cause of ILVEN is currently unknown. Click here to visit the DermNetNZ Web site and view an image of ILVEN.",GARD,Inflammatory linear verrucous epidermal nevus +What is (are) Autoimmune hepatitis ?,"Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, suggesting a genetic cause. This disease is most common in young girls and women.",GARD,Autoimmune hepatitis +What are the symptoms of Autoimmune hepatitis ?,"What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal blood vessels, on the skin nausea vomiting loss of appetite dark urine pale or gray-colored stools People in advanced stages of the disease are more likely to have symptoms related to chronic liver disease, such as fluid in the abdomenalso called ascitesand mental confusion. Women may stop having menstrual periods. The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hepatitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmune antibody positivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autoimmune hepatitis +What causes Autoimmune hepatitis ?,"What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, further suggesting a genetic cause.",GARD,Autoimmune hepatitis +How to diagnose Autoimmune hepatitis ?,"How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy.",GARD,Autoimmune hepatitis +What are the treatments for Autoimmune hepatitis ?,"How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. With proper treatment, autoimmune hepatitis can usually be controlled. In fact, studies show that sustained response to treatment stops the disease from getting worse and may reverse some of the damage. The primary treatment is medicine to suppress, or slow down, an overactive immune system. Prednisone or other corticosteroids help reduce the inflammation. Azathioprine and mercaptopurine are drugs used to treat other autoimmune disorders, which have shown to help patients with autoimmune hepatitis as well. In about seven out of 10 people, the disease goes into remission within 3 years of starting treatment. Remission occurs when symptoms disappear and lab tests show improvement in liver function. Some people can eventually stop treatment, although many will see the disease return. People who stop treatment must carefully monitor their condition and promptly report any new symptoms to their doctor. Treatment with low doses of prednisone or azathioprine may be necessary on and off for years, if not for life. People who do not respond to standard immune therapy or who have severe side effects may benefit from other immunosuppressive agents such as mycophenylate mofetil, cyclosporine, or tacrolimus. People who progress to end-stage liver diseasealso called liver failureor cirrhosis may need a liver transplant. Transplantation has a 1-year survival rate of 90 percent and a 5-year survival rate of 70 to 80 percent.",GARD,Autoimmune hepatitis +What is (are) Epidermolysis bullosa acquisita ?,"Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not inherited and usually occurs in adulthood. Treatment aims to protect the skin, stop the formation of blisters, and promote healing. Immunosuppressive drugs may be used to reduce the body's autoimmune response.",GARD,Epidermolysis bullosa acquisita +What are the symptoms of Epidermolysis bullosa acquisita ?,"What are the signs and symptoms of Epidermolysis bullosa acquisita? Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. For example: Non-inflammatory or mildly inflammatory EBA affecting only trauma-prone skin (the ""classic"" form) may cause: tense, blood- or pus-filled blisters, mostly on the hands, knees, knuckles, elbows and ankles mucous-membrane blisters that rupture easily healing with significant scarring and small white spots (milia) Generalized inflammatory EBA may cause: widespread blisters that are not localized to trauma-prone sites generalized redness and itching healing with minimal scarring The mucous membrane form of EBA may cause: blisters on various mucous membranes significant scarring and dysfunction The features of the condition may change during the course of the disease or may represent two forms at the same time. The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa acquisita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Abnormality of the nail 50% Abdominal pain 7.5% Abnormality of the intestine 7.5% Atypical scarring of skin 7.5% Pruritus 7.5% Thickened skin 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epidermolysis bullosa acquisita +What causes Epidermolysis bullosa acquisita ?,"What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in ""anchoring"" the skin. In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown. EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA. EBA has also been associated with Crohn's disease.",GARD,Epidermolysis bullosa acquisita +Is Epidermolysis bullosa acquisita inherited ?,"Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of families with more than one affected person, suggesting a genetic component may be involved. This could mean that EBA may develop in a person who is ""genetically susceptible."" However, the condition is not thought to be due to any specific gene(s).",GARD,Epidermolysis bullosa acquisita +What are the treatments for Epidermolysis bullosa acquisita ?,How might epidermolysis bullosa acquisita be treated?,GARD,Epidermolysis bullosa acquisita +"What are the symptoms of Severe combined immunodeficiency, atypical ?","What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Diarrhea - Eczematoid dermatitis - Failure to thrive - Hepatomegaly - Panhypogammaglobulinemia - Pneumonia - Recurrent candida infections - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Severe combined immunodeficiency, atypical" +What are the symptoms of Ichthyosis and male hypogonadism ?,"What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis and male hypogonadism +What is (are) Dominant optic atrophy ?,"Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids.",GARD,Dominant optic atrophy +Is Dominant optic atrophy inherited ?,"How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from a parent. In other cases, the mutation occurs for the first time in an affected person and is not inherited from a parent (a de novo mutation). When a person with a mutation that causes DOA has children, each child has a 50% (1 in 2) chance to inherit the mutation. While a mutation responsible for DOA can cause the condition, not all people with a mutation will develop DOA. This means that DOA has reduced penetrance. There are likely to be other genetic and environmental factors that influence whether a person with a mutation will develop features of DOA. Additionally, not all people who do develop features will be affected the same way, and severity can vary - even within families. This phenomenon is known as variable expressivity. People with questions about genetic risks or genetic testing for themselves or family members are encouraged to speak with a genetics professional.",GARD,Dominant optic atrophy +What are the treatments for Dominant optic atrophy ?,"How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-vision aids in individuals with severely decreased visual acuity can be helpful. A preliminary study published in February 2013 found that several individuals with specific OPA1 mutations who underwent idebenone therapy (which has been used to treat some cases of Leber hereditary optic neuropathy) experienced some improvement of visual function. However, more thorough research is necessary to confirm these findings. Acupuncture is also being studied as a potential treatment. Avoiding tobacco and alcohol intake and certain medications (antibiotics, antivirals), which can interfere with mitochondrial metabolism, may help to slow the progression. Cochlear implants have been shown to markedly improve hearing in individuals with sensorineural hearing loss.",GARD,Dominant optic atrophy +What are the symptoms of Chromosome 17q deletion ?,"What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the cardiac septa 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the philtrum 90% Aplasia/Hypoplasia of the thumb 90% Aplasia/Hypoplasia of the uvula 90% Asymmetric growth 90% Deviation of finger 90% Hepatomegaly 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Optic atrophy 90% Patent ductus arteriosus 90% Premature birth 90% Prominent metopic ridge 90% Respiratory insufficiency 90% Short palm 90% Short stature 90% Short thorax 90% Single transverse palmar crease 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 17q deletion +What is (are) Hailey-Hailey disease ?,"Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares.",GARD,Hailey-Hailey disease +What are the symptoms of Hailey-Hailey disease ?,"What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Acantholysis 90% Hyperkeratosis 90% Skin ulcer 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hailey-Hailey disease +Is Hailey-Hailey disease inherited ?,"How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an affected parent. Other cases are due to a new mutation in the gene and occur in people with no history of the condition in their family. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.",GARD,Hailey-Hailey disease +How to diagnose Hailey-Hailey disease ?,"Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. How is Hailey-Hailey disease diagnosed? Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required.",GARD,Hailey-Hailey disease +What are the treatments for Hailey-Hailey disease ?,"How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid ""triggers"" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics and/or stronger corticosteroid creams. Carbon dioxide laser treatment may be effective for severe forms. In very severe cases, surgery can be performed to remove the affected skin, but skin grafts are usually necessary to repair the wounds.",GARD,Hailey-Hailey disease +What are the symptoms of Dermatoosteolysis Kirghizian type ?,"What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermatoosteolysis Kirghizian type +What are the symptoms of Isolated growth hormone deficiency type 3 ?,"What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isolated growth hormone deficiency type 3 +What is (are) Esthesioneuroblastoma ?,"Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor.",GARD,Esthesioneuroblastoma +What are the symptoms of Esthesioneuroblastoma ?,What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes,GARD,Esthesioneuroblastoma +What causes Esthesioneuroblastoma ?,What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown.,GARD,Esthesioneuroblastoma +How to diagnose Esthesioneuroblastoma ?,"How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans.",GARD,Esthesioneuroblastoma +What are the treatments for Esthesioneuroblastoma ?,"How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy.",GARD,Esthesioneuroblastoma +What is (are) Polyembryoma ?,"Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.",GARD,Polyembryoma +What are the treatments for Polyembryoma ?,"How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain.",GARD,Polyembryoma +What is (are) Lattice corneal dystrophy type 3A ?,"Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.",GARD,Lattice corneal dystrophy type 3A +What are the symptoms of Lattice corneal dystrophy type 3A ?,"What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal erosion - Lattice corneal dystrophy - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lattice corneal dystrophy type 3A +What are the symptoms of Neuhauser Eichner Opitz syndrome ?,"What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Abnormality of movement 50% Joint hypermobility 50% Babinski sign 30% Behavioral abnormality 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Areflexia - Athetosis - Autosomal dominant inheritance - Choreoathetosis - Dysarthria - Intention tremor - Lethargy - Recurrent encephalopathy - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuhauser Eichner Opitz syndrome +What are the symptoms of Oto-palato-digital syndrome type 1 ?,"What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oto-palato-digital syndrome type 1 +What is (are) Liposarcoma ?,"Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor.",GARD,Liposarcoma +What are the treatments for Liposarcoma ?,"How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence). Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas. Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs.",GARD,Liposarcoma +What is (are) Monoclonal mast cell activation syndrome ?,"Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change (mutation) in the KIT gene which results in a defect of the mast cells. Treatment may include antihistamines and other medications, as needed.",GARD,Monoclonal mast cell activation syndrome +What are the symptoms of Torg Winchester syndrome ?,"What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthropathy - Coarse facial features - Corneal opacity - Generalized osteoporosis - Gingival overgrowth - Osteolysis involving bones of the feet - Osteolysis involving bones of the upper limbs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Torg Winchester syndrome +What is (are) Megalocytic interstitial nephritis ?,"Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign substances in an effort to protect the body from infection.",GARD,Megalocytic interstitial nephritis +What are the symptoms of Megalocytic interstitial nephritis ?,"What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid).",GARD,Megalocytic interstitial nephritis +What causes Megalocytic interstitial nephritis ?,"What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS.",GARD,Megalocytic interstitial nephritis +What is (are) Familial hemiplegic migraine type 1 ?,"Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.",GARD,Familial hemiplegic migraine type 1 +What are the symptoms of Familial hemiplegic migraine type 1 ?,"What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Seizures 5% Tremor 5% Agitation - Anxiety - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Cerebellar atrophy - Coma - Confusion - Drowsiness - Dyscalculia - Dysphasia - Fever - Hemiparesis - Hemiplegia - Heterogeneous - Migraine with aura - Psychosis - Transient unilateral blurring of vision - Visual hallucinations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hemiplegic migraine type 1 +What are the treatments for Familial hemiplegic migraine type 1 ?,"How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.",GARD,Familial hemiplegic migraine type 1 +What are the symptoms of Corneal dystrophy and perceptive deafness ?,"What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Opacification of the corneal stroma 90% Sensorineural hearing impairment 90% Visual impairment 90% Nystagmus 50% Autosomal recessive inheritance - Hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneal dystrophy and perceptive deafness +What is (are) Dwarfism ?,"Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10"" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.",GARD,Dwarfism +How to diagnose Dwarfism ?,"How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no ""treatment"" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be ""cured."" Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional.",GARD,Dwarfism +What are the symptoms of Spastic paraplegia 4 ?,"What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Agitation - Apathy - Autosomal dominant inheritance - Babinski sign - Degeneration of the lateral corticospinal tracts - Dementia - Depression - Disinhibition - Genetic anticipation - Hyperreflexia - Impaired vibration sensation in the lower limbs - Insidious onset - Intellectual disability - Low back pain - Lower limb muscle weakness - Memory impairment - Nystagmus - Paraplegia - Progressive - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 4 +What is (are) Selective IgM deficiency ?,"Selective IgM deficiency or ""Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes the isolated deficiency of IgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested to have pneumococcal and meningococcal vaccines, prophylactic antibiotics to patients who have recurrent infections and immune globulin replacement.",GARD,Selective IgM deficiency +What are the symptoms of Congenital disorder of glycosylation type I/IIX ?,"What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Infantile spasms - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital disorder of glycosylation type I/IIX +"What is (are) Emery-Dreifuss muscular dystrophy, X-linked ?",,GARD,"Emery-Dreifuss muscular dystrophy, X-linked" +"What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ?","What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Emery-Dreifuss muscular dystrophy, X-linked" +What is (are) Marfan syndrome ?,"Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive.",GARD,Marfan syndrome +What are the symptoms of Marfan syndrome ?,"What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome. Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Marfan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Dilatation of the ascending aorta 90% Disproportionate tall stature 90% Muscular hypotonia 90% Pes planus 90% Skeletal muscle atrophy 90% Striae distensae 90% Aneurysm 50% Arthralgia 50% Decreased body weight 50% Dental malocclusion 50% Dural ectasia 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Myopia 50% Narrow face 50% Pectus excavatum 50% Protrusio acetabuli 50% Scoliosis 50% Sleep disturbance 50% Visual impairment 50% Abnormality of the aortic valve 7.5% Abnormality of the endocardium 7.5% Aortic dissection 7.5% Arterial dissection 7.5% Attention deficit hyperactivity disorder 7.5% Chest pain 7.5% Cleft palate 7.5% Congestive heart failure 7.5% Dolichocephaly 7.5% Ectopia lentis 7.5% Flat cornea 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Meningocele 7.5% Myalgia 7.5% Reduced bone mineral density 7.5% Retinal detachment 7.5% Emphysema 5% Esotropia 5% Exotropia 5% Aortic regurgitation - Aortic root dilatation - Ascending aortic aneurysm - Autosomal dominant inheritance - Cataract - Decreased muscle mass - Decreased subcutaneous fat - Deeply set eye - Dental crowding - Flexion contracture - Genu recurvatum - Hammertoe - High palate - Hypoplasia of the iris - Incisional hernia - Increased axial globe length - Kyphoscoliosis - Long face - Malar flattening - Medial rotation of the medial malleolus - Mitral regurgitation - Mitral valve prolapse - Narrow palate - Overgrowth - Pectus carinatum - Pes cavus - Pneumothorax - Premature calcification of mitral annulus - Premature osteoarthritis - Pulmonary artery dilatation - Retrognathia - Spondylolisthesis - Tall stature - Tricuspid valve prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marfan syndrome +Is Marfan syndrome inherited ?,"How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.",GARD,Marfan syndrome +"What is (are) Refsum disease, infantile form ?","Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies. IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner. Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.",GARD,"Refsum disease, infantile form" +"What are the symptoms of Refsum disease, infantile form ?","What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hepatomegaly 90% Nyctalopia 90% Short stature 90% Skeletal muscle atrophy 90% Visual impairment 90% Behavioral abnormality 50% Hypertonia 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Abnormality of epiphysis morphology 7.5% Arrhythmia 7.5% Cataract 7.5% Facial palsy 7.5% Hypertrophic cardiomyopathy 7.5% Ichthyosis 7.5% Optic atrophy 7.5% Seizures 7.5% Abnormal bleeding - Abnormal electroretinogram - Abnormal facial shape - Autosomal recessive inheritance - Congenital onset - Depressed nasal ridge - Failure to thrive - Flat face - Hypocholesterolemia - Hyporeflexia - Intellectual disability - Malar flattening - Osteoporosis - Polyneuropathy - Rod-cone dystrophy - Single transverse palmar crease - Steatorrhea - Very long chain fatty acid accumulation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Refsum disease, infantile form" +What is (are) Autoimmune pancreatitis ?,"Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in the pancreas and other organs. Treatment often involves corticosteroids. The condition may recur following treatment, and require additional therapy.",GARD,Autoimmune pancreatitis +What are the symptoms of Brachycephalofrontonasal dysplasia ?,"What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad palm - Depressed nasal bridge - Prominent forehead - Wide nasal bridge - Widow's peak - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachycephalofrontonasal dysplasia +What is (are) Camptocormism ?,"Camptocormia, camptocormism or ""bent spine syndrome,"" (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek ""kamptos"" (to bend) and ""kormos"" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause.",GARD,Camptocormism +What are the symptoms of Bjornstad syndrome ?,"What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hypertrichosis 90% Pili torti 90% Sensorineural hearing impairment 90% Alopecia 50% Intellectual disability 5% Anhidrosis - Autosomal recessive inheritance - Brittle hair - Coarse hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypogonadism - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bjornstad syndrome +What is (are) C syndrome ?,"C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.",GARD,C syndrome +What are the symptoms of C syndrome ?,"What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,C syndrome +What are the symptoms of Keratoderma palmoplantar spastic paralysis ?,"What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% EMG abnormality 90% Gait disturbance 90% Muscle weakness 90% Palmoplantar keratoderma 90% Paresthesia 90% Pes cavus 90% Hemiplegia/hemiparesis 50% Hypertonia 50% Autosomal dominant inheritance - Heterogeneous - Motor axonal neuropathy - Nail dysplasia - Nail dystrophy - Sensory axonal neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratoderma palmoplantar spastic paralysis +What are the symptoms of Weissenbacher-Zweymuller syndrome ?,"What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Weissenbacher-Zweymuller syndrome +What is (are) Juvenile-onset dystonia ?,"Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes (mutations) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.",GARD,Juvenile-onset dystonia +What are the symptoms of Juvenile-onset dystonia ?,"What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Abnormality of the hip bone 90% Abnormality of the tongue 90% Cognitive impairment 90% Developmental regression 90% Feeding difficulties in infancy 90% Gastrointestinal dysmotility 90% High forehead 90% Hypertelorism 90% Kyphosis 90% Micromelia 90% Oral cleft 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Sprengel anomaly 90% Cataract 50% Visual impairment 50% Achalasia - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Externally rotated hips - Generalized dystonia - Hypoplastic scapulae - Intellectual disability, mild - Kyphoscoliosis - Mild global developmental delay - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile-onset dystonia +What is (are) Familial hemiplegic migraine ?,"Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.",GARD,Familial hemiplegic migraine +What are the symptoms of Familial hemiplegic migraine ?,"What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hemiplegic migraine +What are the symptoms of Congenital generalized lipodystrophy type 2 ?,"What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital generalized lipodystrophy type 2 +What is (are) Huntington disease ?,"Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.",GARD,Huntington disease +What are the symptoms of Huntington disease ?,"What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavioral disturbances Clumsiness Moodiness Irritability Paranoia Apathy Anxiety Hallucinations Abnormal eye movements Depression Impaired ability to detect odors Middle stage: Dystonia Involuntary movements Trouble with balance and walking Chorea with twisting and writhing motions Unsteady gait (style of walking) Slow reaction time General weakness Weight loss Speech difficulties Stubbornness Late stage: Rigidity (continual tension of the muscles) Bradykinesia (difficulty initiating and continuing movements) Severe chorea Serious weight loss Inability to speak Inability to walk Swallowing problems Inability to care for oneself There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. The Human Phenotype Ontology provides the following list of signs and symptoms for Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Huntington disease +What causes Huntington disease ?,"What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. The HTT gene mutation that causes HD involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of three DNA building blocks that repeat multiple times in a row. The CAG segment in a normal HTT gene repeats about 10 to 35 times. In people with HD, it may repeat from 36 to over 120 times. People with 36 to 39 CAG repeats (an intermediate size) may or may not develop HD, while people with 40 or more repeats almost always develop HD. An increased number of CAG repeats leads to an abnormally long version of the huntingtin protein. The long protein is then cut into smaller, toxic pieces that end up sticking together and accumulating in neurons. This disrupts the function of the neurons, ultimately causing the features of HD.",GARD,Huntington disease +Is Huntington disease inherited ?,"How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and develop the condition. Most people with HD have an affected parent. The family history can sometimes appear negative for various reasons even though a parent carries, or carried, a mutation in the HTT gene. In rare cases, HD is caused by a new (de novo) mutation in the HTT gene, in which case the disease occurs for the first time in the affected person and is not inherited from a parent. As HD is passed through generations, the size of the mutation in the HTT gene (called a trinucleotide repeat) often increases. A longer repeat in the HTT gene may cause earlier onset of symptoms. This phenomenon is called anticipation.",GARD,Huntington disease +How to diagnose Huntington disease ?,"Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly important because there is currently no cure. Furthermore, predictive testing cannot accurately predict the age a person with an HD mutation will develop symptoms, the severity or type of symptoms they will experience, or the future rate of disease progression. A person may want to have predictive testing because they feel they need to know, or to make personal decisions involving having children, finances, and/or career planning. Other people decide they do not want to know whether they will develop HD. Testing is appropriate to consider in symptomatic people of any age in a family with a confirmed diagnosis of HD. However, testing of asymptomatic people younger than age 18 is not considered appropriate. A main reason is that it takes away the choice of whether the person wants to know, while there is no major benefit to knowing at that age. People who are interested in learning more about genetic testing for HD should speak with a genetics professional. How is Huntington disease diagnosed? A diagnosis of Huntington disease is typically suspected in people with characteristic signs and symptoms of the condition and a family history consistent with autosomal dominant inheritance. The diagnosis can then be confirmed with genetic testing that identifies a specific type of change (mutation) in the HTT gene.",GARD,Huntington disease +What are the treatments for Huntington disease ?,"How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various medications to treat specific symptoms such as abnormal movements and behaviors. Depression and suicide are more common among affected people, so caregivers should monitor for associated symptoms and seek help if necessary. As symptoms of the disease worsen, affected people need more assistance, supervision, and care.",GARD,Huntington disease +"What are the symptoms of 49,XXXXX syndrome ?","What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the nose 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hypertelorism 50% Microcephaly 50% Plagiocephaly 50% Radioulnar synostosis 50% Short foot 50% Short palm 50% Short stature 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Patent ductus arteriosus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"49,XXXXX syndrome" +What is (are) Down syndrome ?,"Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person.",GARD,Down syndrome +What are the symptoms of Down syndrome ?,"What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a higher incidence of pneumonia in children with Down syndrome than in the general population. Children with Down syndrome have developmental delay. They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met. Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50. The Human Phenotype Ontology provides the following list of signs and symptoms for Down syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute megakaryocytic leukemia - Aganglionic megacolon - Anal atresia - Atlantoaxial instability - Brachycephaly - Broad palm - Brushfield spots - Complete atrioventricular canal defect - Conductive hearing impairment - Duodenal stenosis - Epicanthus - Flat face - Hypoplastic iliac wing - Hypothyroidism - Intellectual disability - Joint laxity - Macroglossia - Malar flattening - Microtia - Muscular hypotonia - Myeloproliferative disorder - Protruding tongue - Shallow acetabular fossae - Short middle phalanx of the 5th finger - Short palm - Short stature - Single transverse palmar crease - Sporadic - Thickened nuchal skin fold - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Down syndrome +What causes Down syndrome ?,"What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called ""nondisjunction."" When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called ""mosaic trisomy 21"". In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells ""acquire"" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely. Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome. For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome.",GARD,Down syndrome +How to diagnose Down syndrome ?,"How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the likelihood that a fetus has Down syndrome. It may show that a fetus is at an increased risk to be affected, but cannot determine whether it is definitely affected. Screening tests for Down syndrome may involve different types of blood tests for the mother and/or specific types of ultrasounds that can detect features more common in fetuses with Down syndrome (called markers). Depending on the type of screening tests a woman has, they may be done during the 1st trimester, the 2nd trimester, or both. If a screening test shows an increased risk for Down syndrome, a woman may then choose to have a diagnostic test. Diagnostic tests during pregnancy can determine with certainty whether a fetus has Down syndrome, but they are invasive and carry a slight risk of miscarriage. Examples of diagnostic tests include chorionic villus sampling in the 1st trimester and amniocentesis in the 2nd trimester. During these tests, a small sample of genetic material is obtained from the amniotic fluid or placenta, and the fetus' chromosomes are then analyzed in a laboratory. In recent years, non-invasive prenatal testing (NIPT) has become available to women who are at increased risk to have a baby with Down syndrome. NIPT is a blood test that examines DNA from the fetus in the mother's bloodstream. However, women who have a positive NIPT result should then have invasive diagnostic testing to confirm the result. People with questions about the different options for prenatal screening or diagnostic testing should speak with a genetic counselor. A genetic counselor can discuss the benefits, limitations and risks of each test, and help each person decide which test (if any) is best for them. If a diagnosis of Down syndrome is not made prenatally, the diagnosis can be made in the newborn. Down syndrome may be suspected if a newborn has characteristic physical features of the condition. The diagnosis can then be confirmed by obtaining a karyotype (a blood test to look at a picture of the newborn's chromosomes).",GARD,Down syndrome +What are the treatments for Down syndrome ?,"How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improving learning, memory, and speech. Other treatments depend on the specific health problems or complications present in each affected person. The Research Down syndrome Foundation have a webpage with information about active reseach projects.",GARD,Down syndrome +What is (are) Hypoplastic right heart syndrome ?,"Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.",GARD,Hypoplastic right heart syndrome +"What are the symptoms of Keratosis, seborrheic ?","What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Keratosis, seborrheic" +What are the symptoms of Trichothiodystrophy nonphotosensitive ?,"What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichothiodystrophy nonphotosensitive +What is (are) Brittle cornea syndrome ?,"Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.",GARD,Brittle cornea syndrome +What are the symptoms of Brittle cornea syndrome ?,"What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brittle cornea syndrome +What are the symptoms of Megalocornea-intellectual disability syndrome ?,"What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Megalocornea-intellectual disability syndrome +What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ?,"What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis alopecia eclabion ectropion mental retardation +What are the symptoms of Facial ectodermal dysplasia ?,"What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the skin 90% Chin dimple 90% Depressed nasal ridge 90% Downturned corners of mouth 90% Prematurely aged appearance 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the eyelashes 50% Abnormality of the upper urinary tract 50% Epicanthus 50% Highly arched eyebrow 50% Short philtrum 50% Sparse lateral eyebrow 50% Urogenital fistula 50% Cafe-au-lait spot 7.5% Hypopigmented skin patches 7.5% Lacrimation abnormality 7.5% Strabismus 7.5% Absent eyelashes - Aged leonine appearance - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Depressed nasal bridge - Ectodermal dysplasia - Multiple rows of eyelashes - Periorbital fullness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Facial ectodermal dysplasia +"What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?","Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene.",GARD,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke" +"What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?","What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals. Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke" +"Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ?","How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene.",GARD,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke" +"What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?","How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain).",GARD,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke" +What is (are) MYH7-related scapuloperoneal myopathy ?,"MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.",GARD,MYH7-related scapuloperoneal myopathy +What are the symptoms of MYH7-related scapuloperoneal myopathy ?,"What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,MYH7-related scapuloperoneal myopathy +What causes MYH7-related scapuloperoneal myopathy ?,"What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.",GARD,MYH7-related scapuloperoneal myopathy +What are the treatments for MYH7-related scapuloperoneal myopathy ?,How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.,GARD,MYH7-related scapuloperoneal myopathy +What is (are) Jones syndrome ?,"Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.",GARD,Jones syndrome +What are the symptoms of Jones syndrome ?,"What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed eruption of teeth 90% Gingival overgrowth 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jones syndrome +What causes Jones syndrome ?,"What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known.",GARD,Jones syndrome +Is Jones syndrome inherited ?,"How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent.",GARD,Jones syndrome +What are the treatments for Jones syndrome ?,"How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.",GARD,Jones syndrome +What are the symptoms of ABCD syndrome ?,"What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Aganglionic megacolon - Albinism - Autosomal recessive inheritance - Hearing impairment - Hypopigmentation of the fundus - Large for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ABCD syndrome +What is (are) Congenital adrenal hyperplasia ?,"Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.",GARD,Congenital adrenal hyperplasia +What are the symptoms of Congenital adrenal hyperplasia ?,"What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genitalia, which often allows the condition to be diagnosed before other associated health problems such as poor feeding, vomiting, dehydration, and abnormal heart beat, can develop. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not treated in early life. People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne. There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Accelerated skeletal maturation 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Female pseudohermaphroditism 90% Hypercortisolism 90% Abnormality of the thorax - Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Fever - Growth abnormality - Gynecomastia - Hyperpigmentation of the skin - Hypertension - Hypoglycemia - Hypokalemia - Hypokalemic alkalosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypospadias - Long penis - Male pseudohermaphroditism - Neonatal onset - Precocious puberty in males - Primary amenorrhea - Renal salt wasting - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital adrenal hyperplasia +What causes Congenital adrenal hyperplasia ?,"What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH.",GARD,Congenital adrenal hyperplasia +Is Congenital adrenal hyperplasia inherited ?,"How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Congenital adrenal hyperplasia +How to diagnose Congenital adrenal hyperplasia ?,"Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is congenital adrenal hyperplasia diagnosed? Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) .",GARD,Congenital adrenal hyperplasia +What are the treatments for Congenital adrenal hyperplasia ?,"How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here.",GARD,Congenital adrenal hyperplasia +What is (are) Myelodysplastic/myeloproliferative disease ?,"Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care.",GARD,Myelodysplastic/myeloproliferative disease +What causes Myelodysplastic/myeloproliferative disease ?,"What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause.",GARD,Myelodysplastic/myeloproliferative disease +What are the symptoms of Pachygyria with mental retardation and seizures ?,"What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pachygyria with mental retardation and seizures +What are the symptoms of Congenital dyserythropoietic anemia type 3 ?,"What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital dyserythropoietic anemia type 3 +What is (are) Dextrocardia ?,"Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.",GARD,Dextrocardia +What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ?,"What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities +What are the symptoms of Immune defect due to absence of thymus ?,"What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immune defect due to absence of thymus +What is (are) Polymyositis ?,"Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function.",GARD,Polymyositis +What are the symptoms of Polymyositis ?,"What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias.",GARD,Polymyositis +How to diagnose Polymyositis ?,"How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource.",GARD,Polymyositis +What are the treatments for Polymyositis ?,"How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource.",GARD,Polymyositis +"What is (are) Erythema nodosum, idiopathic ?","Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months.",GARD,"Erythema nodosum, idiopathic" +What is (are) BOD syndrome ?,"BOD syndrome is a genetic condition characterized by underdeveloped pinky toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.",GARD,BOD syndrome +What are the symptoms of BOD syndrome ?,"What are the signs and symptoms of BOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplastic/hypoplastic toenail 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Long philtrum 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Wide nasal bridge 90% Abnormal nasal morphology 50% Epicanthus 50% Frontal bossing 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Narrow forehead 50% Pointed chin 50% Strabismus 50% Triangular face 50% Wide mouth 50% Abnormality of the mitral valve 7.5% Abnormality of the respiratory system 7.5% Atria septal defect 7.5% Clinodactyly of the 5th finger 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% High anterior hairline 7.5% Hypertrichosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Thick eyebrow 7.5% Umbilical hernia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Congenital cystic adenomatoid malformation of the lung - Nail dysplasia - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,BOD syndrome +What are the symptoms of Spastic paraplegia 39 ?,"What are the signs and symptoms of Spastic paraplegia 39? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 39. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Cerebellar atrophy 5% Atrophy of the spinal cord - Autosomal recessive inheritance - Babinski sign - Distal amyotrophy - Distal lower limb muscle weakness - Gait disturbance - Hyperreflexia - Progressive spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 39 +What are the symptoms of Midphalangeal hair ?,"What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Midphalangeal hair +What is (are) Osteomesopyknosis ?,"Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.",GARD,Osteomesopyknosis +What are the symptoms of Osteomesopyknosis ?,"What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteomesopyknosis +Is Osteomesopyknosis inherited ?,"How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.",GARD,Osteomesopyknosis +What is (are) Lymphomatoid papulosis ?,Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system).,GARD,Lymphomatoid papulosis +What are the symptoms of Lymphomatoid papulosis ?,"What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that break and form a crusty sore before healing completely. Lesions tend to spontaneously heal with or without scarring within 2-8 weeks of appearing.",GARD,Lymphomatoid papulosis +What causes Lymphomatoid papulosis ?,"What causes lymphomatoid papulosis? The cause of lymphomatoid papulosis is unknown, but it is associated with a proliferation of atypical T-cells. T-cells are specific white blood cells involved in immune responses.",GARD,Lymphomatoid papulosis +What are the treatments for Lymphomatoid papulosis ?,"How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone",GARD,Lymphomatoid papulosis +What are the symptoms of Bowen syndrome ?,"What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Abnormality of the ear - Agenesis of corpus callosum - Autosomal recessive inheritance - Congenital glaucoma - Death in childhood - Failure to thrive - Feeding difficulties in infancy - Hypospadias - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bowen syndrome +What is (are) Factor XI deficiency ?,"Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. The condition is generally inherited in an autosomal recessive manner; however, it may follow an autosomal dominant pattern in some families. Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries.",GARD,Factor XI deficiency +What are the symptoms of Factor XI deficiency ?,"What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Autosomal dominant inheritance - Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced factor XI activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Factor XI deficiency +What is (are) Rh deficiency syndrome ?,"The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.",GARD,Rh deficiency syndrome +What are the symptoms of Cataract Hutterite type ?,"What are the signs and symptoms of Cataract Hutterite type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract Hutterite type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital cataract - Juvenile cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract Hutterite type +What are the symptoms of Acromegaloid facial appearance syndrome ?,"What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the nasal alae 90% Abnormality of the tongue 90% Blepharophimosis 90% Coarse facial features 90% Gingival overgrowth 90% Hypertelorism 90% Joint hypermobility 90% Large hands 90% Palpebral edema 90% Thick lower lip vermilion 90% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Craniofacial hyperostosis 50% Highly arched eyebrow 50% Sloping forehead 50% Synophrys 50% Thick eyebrow 50% Thickened skin 50% Intellectual disability, mild 7.5% Seizures 7.5% Specific learning disability 7.5% Tapered finger 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Bulbous nose - Large for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acromegaloid facial appearance syndrome +What is (are) Lymphocytic colitis ?,"Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness, but an increase in the number of lymphocytes (a type of white blood cell) is observed. Signs and symptoms of the condition may include chronic, watery diarrhea; abdominal pain, cramping, and bloating; weight loss; nausea; dehydration; and/or fecal incontinence. The underlying cause of lymphocytic colitis is currently unknown; however, scientists suspect that autoimmune conditions, medications, infections, genetic factors, and/or bile acid malabsorption may contribute to the development of the condition. Treatment is based on the signs and symptoms present in each person and may include certain medications, dietary modifications, and in rare cases, surgery.",GARD,Lymphocytic colitis +What are the symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas ?,"What are the signs and symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Supraumbilical midabdominal raphe and facial cavernous hemangiomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nipple 90% Atypical scarring of skin 90% Cavernous hemangioma 90% Hernia of the abdominal wall 50% Strabismus 50% Autosomal dominant inheritance - Cavernous hemangioma of the face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Supraumbilical midabdominal raphe and facial cavernous hemangiomas +What are the symptoms of Ghosal hematodiaphyseal dysplasia syndrome ?,"What are the signs and symptoms of Ghosal hematodiaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ghosal hematodiaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Bowing of the long bones 90% Craniofacial hyperostosis 90% Neurological speech impairment 7.5% Splenomegaly 7.5% Hyperostosis cranialis interna 5% Leukopenia 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Diaphyseal dysplasia - Increased bone mineral density - Myelofibrosis - Phenotypic variability - Refractory anemia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ghosal hematodiaphyseal dysplasia syndrome +What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ?,"What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epiphyseal stippling - Failure to thrive - Rhizomelia - Short femur - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rhizomelic chondrodysplasia punctata type 3 +What are the symptoms of Congenital ectodermal dysplasia with hearing loss ?,"What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Camptodactyly of finger 90% Sensorineural hearing impairment 90% Short stature 90% Arachnodactyly 50% Carious teeth 50% Coarse hair 50% Cognitive impairment 50% Hyperkeratosis 50% Kyphosis 50% Scoliosis 50% Autosomal recessive inheritance - Hidrotic ectodermal dysplasia - Joint contracture of the hand - Thoracic scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital ectodermal dysplasia with hearing loss +What is (are) Amelogenesis imperfecta ?,"Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.",GARD,Amelogenesis imperfecta +What are the symptoms of Amelogenesis imperfecta ?,"What are the signs and symptoms of amelogenesis imperfecta? In general, the both primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear yellow and damage easily. The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance. Detailed information about the signs and symptoms associated with the four major types of amelogenesis imperfecta is available from the UNC School of Dentistry.",GARD,Amelogenesis imperfecta +What causes Amelogenesis imperfecta ?,"What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. Click on each gene name to learn more about the role it plays in the development of tooth enamel.",GARD,Amelogenesis imperfecta +Is Amelogenesis imperfecta inherited ?,"How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.",GARD,Amelogenesis imperfecta +How to diagnose Amelogenesis imperfecta ?,"How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. Intraoral X-rays (X-rays taken inside the mouth) show contrast between the enamel and dentin in cases in which mineralization is affected. Genetic testing is available for the genes AMELX, ENAM, and MMP20. You can visit the Genetic Testing Registry to locate laboratories performing genetic testing for these genes. The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.",GARD,Amelogenesis imperfecta +What are the treatments for Amelogenesis imperfecta ?,"How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. The social and emotional impact of this condition should also be addressed. Detailed information on the treatment of amelogenesis imperfecta is available from the UNC School of Dentistry.",GARD,Amelogenesis imperfecta +What is (are) TEMPI syndrome ?,"TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib.",GARD,TEMPI syndrome +What are the symptoms of Oculo skeletal renal syndrome ?,"What are the signs and symptoms of Oculo skeletal renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo skeletal renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of retinal pigmentation 90% Abnormality of the humeroulnar joint 90% Abnormality of the metacarpal bones 90% Abnormality of the renal tubule 90% Abnormality of the toenails 90% Astigmatism 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Deviation of finger 90% Dolichocephaly 90% Hypertension 90% Madelung deformity 90% Micromelia 90% Myopia 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculo skeletal renal syndrome +What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?,"What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly +What are the symptoms of Infundibulopelvic dysgenesis ?,"What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Multicystic kidney dysplasia 90% Abdominal pain - Autosomal dominant inheritance - Microscopic hematuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infundibulopelvic dysgenesis +What is (are) Jejunal atresia ?,"Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or ""atresia."" Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.",GARD,Jejunal atresia +What are the symptoms of Jejunal atresia ?,"What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Jejunal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jejunal atresia +What causes Jejunal atresia ?,"What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or ""atresia."" Jejunal atresia typically occurs sporadically in people with no family history of the condition. In these cases, the exact underlying cause is generally unknown; however, scientists suspect that it may be a consequence of disrupted blood flow in the developing fetus. Rarely, more than one family member can be affected by jejunal atresia, suggesting that there may be a genetic component in some cases.",GARD,Jejunal atresia +Is Jejunal atresia inherited ?,"Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.",GARD,Jejunal atresia +How to diagnose Jejunal atresia ?,"How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis.",GARD,Jejunal atresia +What are the treatments for Jejunal atresia ?,How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.,GARD,Jejunal atresia +What is (are) Livedoid vasculopathy ?,"Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.",GARD,Livedoid vasculopathy +What are the treatments for Livedoid vasculopathy ?,"How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. Treatments will also be given to address any co-occurring conditions such as lupus or thrombophilia. Drugs that aim to improve blood flow or prevent blood clotting may also be considered. Examples of these treatments, include: Antiplatelet agents (e.g. aspirin, dipyridamole) Fibrinolytic agents (e.g. danazol, tissue plasminogen activator) Anticoagulant agents (e.g. subcutaneous heparin injections, oral warfarin) Pentoxifylline Low-dose danazol (200 mg/day orally) Hyperbaric oxygen Pulsed intravenous immunoglobulin Iloprost Ketanserin Psoralen plus ultraviolet A (PUVA) therapy Niacin (nicotinic acid) Sulfapyridine Guanethidine Currently there are no established guidelines for treatment. Decisions for treatment are made based on the clinicians clinical experience and specific patient characteristics. We strongly recommend that you discuss this information and your treatment options further with a trusted healthcare professional.",GARD,Livedoid vasculopathy +What are the symptoms of Caudal appendage deafness ?,"What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Caudal appendage deafness +What is (are) MTHFR gene mutation ?,"MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. Some rare MTHFR gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly). Common MTHFR gene mutations (such as C677T and A1298C) lead to a milder reduction in enzyme function. People with two copies of C677T or one copy of C677T and one copy of A1298C may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Many people who inherit these mutations never develop one of the associated conditions.",GARD,MTHFR gene mutation +What are the symptoms of MTHFR gene mutation ?,"What are the signs and symptoms of MTHFR gene mutations? People with MTHFR gene mutations may develop elevated levels of homocysteine in their blood (homocysteinemia) or urine (homocystinuria). Risks for health effects vary depending on the levels of homocysteine. A few cases of severe homocysteinemia have been due to rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). Symptoms in these patients varied greatly but often involved pronounced neurological symptoms and blood vessel disease. The age of the patients when they first experienced symptoms varied from infancy to adulthood. Common MTHFR gene mutations cause less severe, although still significantly raised levels of homocysteine. The most well studied MTHFR mutation, is C677T. An estimated 11% of Americans carry two copies of this mutation. People with two copies of C677T have higher homocysteine levels, than those without the mutation (people with one copy of C677T may have mildly raised homocysteine levels). Many studies have investigated the health effects of high homocysteine levels and/or having two C677T MTHFR gene mutations. Some studies suggest that an elevated level of homocysteine in the blood is associated with an increased risk for heart disease, including coronary heart disease and stroke. Specifically, studies have estimated that people with two C677T MTHFR mutations have a 16% higher chance of developing coronary heart disease, when compared to people without these mutations. Weaker associations have been suggested between high homocysteine levels and narrowing of the carotid arteries (the arteries on each side of your neck), blood clots in deep veins (often in the lower leg and thigh), a sudden blockage in a lung artery, and pregnancy complications (such as preeclampsia, placental abruption, fetal growth restriction, stillbirth, and neural tube defects). Studies involving MTHFR and homocysteine and the following conditions have been completed, but with conflicting and varied results:* Hypertension Hyperlipidemia Psoriasis Infertility Recurrent pregnancy loss Downs syndrome Spina bifida Parkinson disease Alzheimer disease Migraine Cerebral venous thrombosis Psychiatric disorders Schizophrenia Breast cancer Cervical cancer Ovarian cancer Esophageal cancer Oral cancer Liver cancer Pancreatic cancer Prostate cancer Bladder cancer Lung cancer Stomach cancer Colorectal cancer Acute lymphoblastic leukemia *This is not an exhaustive list of all studies involving MTHFR and health effects.",GARD,MTHFR gene mutation +Is MTHFR gene mutation inherited ?,"How is a MTHFR gene mutation inherited? Because each person has two copies of the MTHFR gene, people can inherit one copy of the MTHFR mutation or two copies (one from each parent). People who inherit two copies of a common MTHFR gene mutation (for example two C677T mutations or a C677T mutation and a A1298C mutation) may have an increased risk for certain conditions such as coronary artery disease, blood clots, and stroke when compared to those without the mutations and elevated homocystine levels. Coronary artery disease, blood clots, and stroke are all complex conditions and are caused by a combination of many genetic and environmental factors. Some rare MTHFR gene mutations can lead to homocystinuria, which is inherited in an autosomal recessive manner. Visit our ""Homocystinuria due to MTHFR deficiency"" webpage.",GARD,MTHFR gene mutation +How to diagnose MTHFR gene mutation ?,"Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,MTHFR gene mutation +What are the treatments for MTHFR gene mutation ?,"How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin). It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered. We recommend that you talk to your doctor to learn if supplementation would benefit you. Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.",GARD,MTHFR gene mutation +What are the symptoms of Pelizaeus-Merzbacher-like disease ?,"What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebral atrophy - Cerebral hypomyelination - Choreoathetosis - Cognitive impairment - Decreased motor nerve conduction velocity - Demyelinating motor neuropathy - Dysarthria - Dystonia - Facial palsy - Head titubation - Infantile onset - Intention tremor - Leukodystrophy - Motor delay - Muscular hypotonia of the trunk - Myopia - Optic atrophy - Poor speech - Progressive spasticity - Rigidity - Rotary nystagmus - Seizures - Sensory axonal neuropathy - Spastic paraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pelizaeus-Merzbacher-like disease +What is (are) Myelofibrosis ?,"Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery.",GARD,Myelofibrosis +What are the symptoms of Myelofibrosis ?,"What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Myelofibrosis - Myeloproliferative disorder - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myelofibrosis +What are the symptoms of Duodenal atresia ?,"What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duodenal atresia +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot - Autosomal dominant inheritance - Axonal regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C +What is (are) Achondrogenesis ?,"Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.",GARD,Achondrogenesis +What are the symptoms of Achondrogenesis ?,"What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Brachydactyly syndrome 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Abnormality of the ribs 50% Polyhydramnios 50% Recurrent fractures 50% Talipes 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Abnormality of the foot - Absent or minimally ossified vertebral bodies - Absent vertebral body mineralization - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Breech presentation - Broad clavicles - Broad long bones - Cleft palate - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Flat face - Horizontal ribs - Hypoplasia of the radius - Hypoplastic ilia - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic scapulae - Inguinal hernia - Neonatal short-limb short stature - Protuberant abdomen - Respiratory insufficiency - Short clavicles - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondrogenesis +What causes Achondrogenesis ?,"What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous). Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body.",GARD,Achondrogenesis +Is Achondrogenesis inherited ?,"How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is almost always caused by new (de novo) mutations and typically occurs in people with no history of the disorder in their family.",GARD,Achondrogenesis +How to diagnose Achondrogenesis ?,"Is genetic testing is available for achondrogenesis? Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Services tab, we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Achondrogenesis +What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ?,"What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Short stature 90% Type II diabetes mellitus 90% Abnormality of immune system physiology 50% Abnormality of neutrophils 50% Acute hepatic failure 50% Brachydactyly syndrome 50% Chronic hepatic failure 50% Cognitive impairment 50% Delayed skeletal maturation 50% Elevated hepatic transaminases 50% Gait disturbance 50% Genu valgum 50% Hepatomegaly 50% Platyspondyly 50% Short thorax 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Exocrine pancreatic insufficiency 7.5% Hyperlordosis 7.5% Hypoglycemia 7.5% Hypothyroidism 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Microcephaly 7.5% Nephropathy 7.5% Recurrent fractures 7.5% Renal insufficiency 7.5% Seizures 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Carpal bone hypoplasia - Cone-shaped epiphyses of the phalanges of the hand - Coxa valga - Depressed nasal bridge - Epiphyseal dysplasia - Flattened epiphysis - High palate - Hip dislocation - Hip Subluxation - Hypertelorism - Hypertonia - Hypoplasia of the odontoid process - Infantile onset - Insulin-resistant diabetes mellitus - Irregular carpal bones - Irregular tarsal ossification - Irregular vertebral endplates - Ivory epiphyses of the phalanges of the hand - Ivory epiphyses of the toes - Multiple epiphyseal dysplasia - Narrow iliac wings - Osteoporosis - Preauricular pit - Reduced pancreatic beta cells - Shortening of all middle phalanges of the fingers - Small epiphyses - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epiphyseal dysplasia multiple with early-onset diabetes mellitus +What is (are) Inclusion body myositis ?,"Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.",GARD,Inclusion body myositis +What are the symptoms of Inclusion body myositis ?,"What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7.5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Inclusion body myositis +What is (are) Renal nutcracker syndrome ?,"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome.",GARD,Renal nutcracker syndrome +What are the symptoms of Renal nutcracker syndrome ?,"What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When present, symptoms of the condition may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some people may also experience orthostatic intolerance, which is characterized by symptoms such as light-headedness, palpitations, poor concentration, fatigue, nausea, dizziness, headache, sweating, weakness and occasionally fainting when upright standing. Men who are affected by renal nutcracker syndrome may develop a varicocele. Affected women may have gynecological symptoms such as dyspareunia and dysmenorrhea (painful periods).",GARD,Renal nutcracker syndrome +Is Renal nutcracker syndrome inherited ?,"Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition.",GARD,Renal nutcracker syndrome +How to diagnose Renal nutcracker syndrome ?,"How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urine tests, imaging studies of the kidneys (i.e. doppler ultrasonography, computed tomography angiography, magnetic resonance angiography, retrograde venography), and/or cystoscopy.",GARD,Renal nutcracker syndrome +What are the treatments for Renal nutcracker syndrome ?,"How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. People younger than 18 years, specifically, are often observed for at least 2 years because as many as 75% will have complete resolution of symptoms without any significant intervention. ACE inhibitors may be effective in treating orthostatic proteinuria. In those with severe symptoms who do not respond to more conservative treatments, surgery is often recommended.",GARD,Renal nutcracker syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 4B2 +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B +What is (are) Wyburn Mason's syndrome ?,"Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis). Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.",GARD,Wyburn Mason's syndrome +What are the symptoms of Wyburn Mason's syndrome ?,"What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Abnormality of the skin 90% Aneurysm 90% Peripheral arteriovenous fistula 90% Cerebral palsy 50% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Migraine 50% Seizures 50% Visual impairment 50% Abnormality of eye movement 7.5% Abnormality of retinal pigmentation 7.5% Behavioral abnormality 7.5% Hearing impairment 7.5% Intracranial hemorrhage 7.5% Meningitis 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Proptosis 7.5% Reduced consciousness/confusion 7.5% Tinnitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wyburn Mason's syndrome +What are the symptoms of Marie Unna congenital hypotrichosis ?,"What are the signs and symptoms of Marie Unna congenital hypotrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Marie Unna congenital hypotrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Autosomal dominant inheritance - Hypotrichosis - Pili torti - Sparse body hair - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marie Unna congenital hypotrichosis +What is (are) Harlequin ichthyosis ?,Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.,GARD,Harlequin ichthyosis +What are the symptoms of Harlequin ichthyosis ?,"What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Depressed nasal ridge 90% Hearing abnormality 90% Hyperkeratosis 90% Recurrent respiratory infections 90% Abnormality of the mouth 50% Limitation of joint mobility 50% Cataract 7.5% Dehydration 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Malignant hyperthermia 7.5% Respiratory insufficiency 7.5% Self-injurious behavior 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Ectropion - Premature birth - Proptosis - Rigidity - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Harlequin ichthyosis +What causes Harlequin ichthyosis ?,"What causes harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, while others lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.",GARD,Harlequin ichthyosis +Is Harlequin ichthyosis inherited ?,"How is harlequin ichthyosis inherited? Harlequin ichthyosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Harlequin ichthyosis +How to diagnose Harlequin ichthyosis ?,"Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.",GARD,Harlequin ichthyosis +What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ?,"What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conical tooth 7.5% Selective tooth agenesis 7.5% Triphalangeal thumb 5% Anonychia - Autosomal dominant inheritance - Brachydactyly syndrome - Congenital onset - Hidrotic ectodermal dysplasia - Nail dystrophy - Sensorineural hearing impairment - Small nail - Toe syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant deafness-onychodystrophy syndrome +What is (are) Naegeli syndrome ?,"Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms.",GARD,Naegeli syndrome +What are the symptoms of Naegeli syndrome ?,"What are the signs and symptoms of Naegeli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Naegeli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Autosomal dominant inheritance - Carious teeth - Fragile nails - Heat intolerance - Hypohidrosis - Premature loss of teeth - Reticular hyperpigmentation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Naegeli syndrome +How to diagnose Naegeli syndrome ?,"How is Naegeli syndrome diagnosed? In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The clinical diagnosis may be confirmed by genetic testing of the KRT14 gene. GeneTests lists a laboratory that performs genetic testing of the KRT14 gene. If you are interested in genetic testing for this condition, we recommend that you consult with a genetics professional.",GARD,Naegeli syndrome +What are the treatments for Naegeli syndrome ?,"Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.",GARD,Naegeli syndrome +What is (are) Hemoglobin E disease ?,"Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent.",GARD,Hemoglobin E disease +What are the symptoms of Hemoglobin E disease ?,"What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait. These individuals are typically asymptomatic, although they may have small red blood cells. However, carriers may be at risk to have children with hemoglobin E/thalassemia (which is similar to thalassemia) or hemoglobin sickle E disease (milder form of sickle cell anemia). Both of these conditions are much more severe than hemoglobin E disease. They are are also inherited in an autosomal recessive fashion.",GARD,Hemoglobin E disease +How to diagnose Hemoglobin E disease ?,"How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobin electrophoresis and iron studies might be done. These tests indicate whether a person has different types of hemoglobin. Genetic testing of the HBB gene can also be done to confirm a diagnosis.",GARD,Hemoglobin E disease +What are the treatments for Hemoglobin E disease ?,How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.,GARD,Hemoglobin E disease +What are the symptoms of Cortisone reductase deficiency ?,"What are the signs and symptoms of Cortisone reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Cortisone reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acne - Autosomal recessive inheritance - Hirsutism - Infertility - Obesity - Oligomenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cortisone reductase deficiency +"What are the symptoms of Cataract, posterior polar, 1 ?","What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 12/12 Autosomal dominant inheritance - Choroideremia - Congenital cataract - Myopia - Total cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cataract, posterior polar, 1" +What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?,"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids.",GARD,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids +What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?,"How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. Long term treatment may include a low dose of oral steroids and another type of immune suppressant, such as methotrexate or rituximab. Because there have been very few patients with CLIPPERS reported in medical journals, the best course of treatment has not yet been determined.",GARD,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids +What is (are) Lymphocytic vasculitis ?,"Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.",GARD,Lymphocytic vasculitis +What are the symptoms of Lymphocytic vasculitis ?,"What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms. Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition. The size, location, and severity of symptoms varies widely among affected individuals. Additional symptoms may occur if the vasculitis also affects internal organs; this is known as systemic vasculitis. The symptoms of systemic vasculitis depend on which organs are affected and to what degree. The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic vasculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Nodular inflammatory vasculitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lymphocytic vasculitis +What causes Lymphocytic vasculitis ?,"What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis. Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has yet to be assembled.",GARD,Lymphocytic vasculitis +"What are the symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ?","What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 5% Aplasia/Hypoplasia involving the central nervous system - Ataxia - Autosomal recessive inheritance - Brain atrophy - Broad-based gait - Cutis marmorata - Dementia - Dysarthria - Emotional lability - Hemianopia - Migraine - Pseudobulbar signs - Seizures - Telangiectases producing 'marbled' skin - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert" +What are the symptoms of Lateral meningocele syndrome ?,"What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lateral meningocele syndrome +What are the symptoms of Gamma-cystathionase deficiency ?,"What are the signs and symptoms of Gamma-cystathionase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Gamma-cystathionase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cystathioninuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gamma-cystathionase deficiency +What is (are) Behcet's disease ?,"Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive tract, brain, and spinal cord. Although it can happen at any age, symptoms generally begin when individuals are in their 20s or 30s. The disease is common in Japan, Turkey and Israel, and less common in the United States. The exact cause of Behcet's disease is still unknown. Treatment is symptomatic and supportive. Experience is evolving with the use of interferon-alpha and with agents which inhibit tumor necrosis factor (TNF) in the treatment of Behets disease. Behcet's disease is a lifelong disorder that comes and goes. Spontaneous remission over time is common for individuals with Behets disease but permanent remission of symptoms has not been reported.",GARD,Behcet's disease +What are the symptoms of Behcet's disease ?,"What are the signs and symptoms of Behcet's disease? Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation (uveitis). The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet's is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications. The Human Phenotype Ontology provides the following list of signs and symptoms for Behcet's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthritis 90% Meningitis 90% Migraine 90% Myalgia 90% Nausea and vomiting 90% Orchitis 90% Photophobia 90% Vasculitis 90% Abdominal pain 50% Abnormal blistering of the skin 50% Acne 50% Arthralgia 50% Gait disturbance 50% Gastrointestinal hemorrhage 50% Hemiplegia/hemiparesis 50% Immunologic hypersensitivity 50% Reduced consciousness/confusion 50% Thrombophlebitis 50% Abnormal pyramidal signs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anorexia 7.5% Arterial thrombosis 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Developmental regression 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hemoptysis 7.5% Hyperreflexia 7.5% Incoordination 7.5% Increased intracranial pressure 7.5% Keratoconjunctivitis sicca 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Memory impairment 7.5% Myositis 7.5% Pancreatitis 7.5% Paresthesia 7.5% Polyneuropathy 7.5% Pulmonary embolism 7.5% Pulmonary infiltrates 7.5% Renal insufficiency 7.5% Retinopathy 7.5% Retrobulbar optic neuritis 7.5% Seizures 7.5% Splenomegaly 7.5% Vertigo 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia areata - Chorioretinitis - Epididymitis - Erythema - Genital ulcers - Iridocyclitis - Iritis - Irritability - Oral ulcer - Superficial thrombophlebitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Behcet's disease +What causes Behcet's disease ?,"What causes Behcet's disease? The exact cause of Behet's disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoimmune reaction may cause the blood vessels to become inflamed, but they do not know what triggers this reaction. Under normal conditions, the immune system protects the body from diseases and infections by killing harmful ""foreign"" substances, such as germs, that enter the body. In an autoimmune reaction, the immune system mistakenly attacks and harms the body's own tissues. Behet's disease is not contagious; it is not spread from one person to another. Researchers think that two factors are important for a person to get Behet's disease. First, it is believed that abnormalities of the immune system make some people susceptible to the disease. Scientists think that this susceptibility may be inherited; that is, it may be due to one or more specific genes. Second, something in the environment, possibly a bacterium or virus, might trigger or activate the disease in susceptible people.",GARD,Behcet's disease +What are the treatments for Behcet's disease ?,"How might Behcet's disease be treated? Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The type of medicine and the length of treatment depend on the person's symptoms and their severity. It is likely that a combination of treatments will be needed to relieve specific symptoms. Patients should tell each of their doctors about all of the medicines they are taking so that the doctors can coordinate treatment. Topical medicine is applied directly on the sores to relieve pain and discomfort. For example, doctors prescribe rinses, gels, or ointments. Creams are used to treat skin and genital sores. The medicine usually contains corticosteroids (which reduce inflammation), other anti-inflammatory drugs, or an anesthetic, which relieves pain. Doctors also prescribe medicines taken by mouth to reduce inflammation throughout the body, suppress the overactive immune system, and relieve symptoms. Doctors may prescribe one or more of the medicines listed below to treat the various symptoms of Behet's disease. Corticosteroids Immunosuppressive drugs (Azathioprine, Chlorambucil or Cyclophosphamide, Cyclosporine, Colchicine, or a combination of these treatments) Methotrexate",GARD,Behcet's disease +What are the symptoms of Dyskeratosis congenita autosomal recessive ?,"What are the signs and symptoms of Dyskeratosis congenita autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Autosomal recessive inheritance - Esophageal stricture - Hepatic fibrosis - Hyperpigmentation of the skin - Increased lacrimation - Intellectual disability - Microcephaly - Microdontia - Nail dysplasia - Nasolacrimal duct obstruction - Oral leukoplakia - Osteoporosis - Phenotypic variability - Pterygium formation (nails) - Pulmonary fibrosis - Small nail - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyskeratosis congenita autosomal recessive +What is (are) Ankylosing spondylitis ?,"Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together. The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS. In most cases, treatment involves exercise and medications to relieve pain and inflammation.",GARD,Ankylosing spondylitis +What are the symptoms of Ankylosing spondylitis ?,"What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply. In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet. It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other organs including the eyes, and very rarely, the heart and lungs. Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia). Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina). The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosing spondylitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the oral cavity 90% Abnormality of the sacroiliac joint 90% Arthralgia 90% Arthritis 90% Diarrhea 90% Enthesitis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Spinal rigidity 90% Abnormality of the thorax 50% Myalgia 50% Respiratory insufficiency 50% Abdominal pain 7.5% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anorexia 7.5% Arrhythmia 7.5% Autoimmunity 7.5% Cartilage destruction 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hyperkeratosis 7.5% Nephrolithiasis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pustule 7.5% Recurrent fractures 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Skin rash 7.5% Skin ulcer 7.5% Anterior uveitis - Aortic regurgitation - Back pain - Hip osteoarthritis - Inflammation of the large intestine - Kyphosis - Multifactorial inheritance - Psoriasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ankylosing spondylitis +Is Ankylosing spondylitis inherited ?,"Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS. Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease. You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.",GARD,Ankylosing spondylitis +What are the treatments for Ankylosing spondylitis ?,"How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit. More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free.",GARD,Ankylosing spondylitis +What is (are) Multiple familial trichoepithelioma ?,"Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The condition can be caused by alterations (mutations) in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2. Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.",GARD,Multiple familial trichoepithelioma +What are the symptoms of Multiple familial trichoepithelioma ?,"What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transform into a type of skin cancer called basal cell carcinoma. Occasionally, other types of tumors, including growths called spiradenomas (which originate in sweat glands) and cylindromas (which likely originate in hair follicles) also develop. Affected individuals are also at-risk to develop tumors in other tissues, particularly benign tumors of the salivary glands. The tumors in multiple familial trichoepithelioma typically first appear during childhood or adolescence, and appear most often around the nose, forehead, upper lip, and occasionally scalp, neck, and upper trunk. They may grow larger and increase in number over time. In rare cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision or hearing. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that remain unknown, females are often more severely affected than males. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple familial trichoepithelioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the skin 90% Telangiectasia of the skin 50% Basal cell carcinoma 5% Adult onset - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple familial trichoepithelioma +What causes Multiple familial trichoepithelioma ?,What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone with the gene mutation will develop symptoms of the condition. Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene which is found on chromosome 16 or by a mutation on a gene on chromsome 9 that has yet to be identified.,GARD,Multiple familial trichoepithelioma +Is Multiple familial trichoepithelioma inherited ?,"How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation is needed for development of the skin tumors characteristic of this condition.",GARD,Multiple familial trichoepithelioma +How to diagnose Multiple familial trichoepithelioma ?,"How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be distinguished from basal cell carcinoma (cancerous tumor) and other rare genetic syndromes such as Cowden syndrome.",GARD,Multiple familial trichoepithelioma +What are the treatments for Multiple familial trichoepithelioma ?,"How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms. Other treatments have included dermabrasion, photodynamic therapy, and other medications. However, in most cases, multiple trichoepitheliomas eventually regrow following treatment.",GARD,Multiple familial trichoepithelioma +What are the symptoms of Kaplan Plauchu Fitch syndrome ?,"What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of periauricular region 90% Abnormality of the fingernails 90% Abnormality of the metacarpal bones 90% Abnormality of the toenails 90% Anteverted nares 90% Cleft palate 90% Low-set, posteriorly rotated ears 90% Prominent nasal bridge 90% Proptosis 90% Ptosis 90% Short distal phalanx of finger 90% Short philtrum 90% Short stature 90% Tapered finger 90% Telecanthus 90% Triphalangeal thumb 90% Abnormality of the hip bone 50% Advanced eruption of teeth 50% Choanal atresia 50% Conductive hearing impairment 50% Craniosynostosis 50% Genu valgum 50% Hypertelorism 50% Lacrimation abnormality 50% Microcephaly 50% Myopia 50% Pectus excavatum 50% Sensorineural hearing impairment 50% Sloping forehead 50% Spina bifida occulta 50% Ulnar deviation of finger 50% Abnormal auditory evoked potentials - Abnormality of the vertebral column - Autosomal recessive inheritance - Hypotelorism - Oxycephaly - Preauricular pit - Short 1st metacarpal - Short first metatarsal - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kaplan Plauchu Fitch syndrome +What is (are) Lenz microphthalmia syndrome ?,"Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects. Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. Mutations in the BCOR gene cause some cases of Lenz microphthalmia syndrome. The other causative gene(s) have yet to be identified. This condition is inherited in an X-linked recessive fashion.",GARD,Lenz microphthalmia syndrome +What are the symptoms of Lenz microphthalmia syndrome ?,"What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Abnormality of dental morphology 50% Abnormality of the ureter 50% Camptodactyly of finger 50% Chorioretinal coloboma 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% External ear malformation 50% Finger syndactyly 50% Glaucoma 50% Iris coloboma 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Microcornea 50% Optic nerve coloboma 50% Oral cleft 50% Preaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Short stature 50% Abnormality of the clavicle 7.5% Abnormality of the palpebral fissures 7.5% Abnormality of the shoulder 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Delayed eruption of teeth 7.5% Hearing impairment 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Long thorax 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Preauricular skin tag 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Visual impairment 7.5% Webbed neck 7.5% Autistic behavior 5% Pulmonary hypoplasia 5% Abnormal palmar dermatoglyphics - Abnormality of the pinna - Aganglionic megacolon - Agenesis of maxillary lateral incisor - Aggressive behavior - Anal atresia - Anophthalmia - Bicuspid aortic valve - Blindness - Camptodactyly - Ciliary body coloboma - Cleft upper lip - Clinodactyly - Dental crowding - Down-sloping shoulders - Growth delay - High palate - Hydroureter - Hypospadias - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Low-set ears - Lumbar hyperlordosis - Microphthalmia - Motor delay - Muscular hypotonia - Narrow chest - Overfolded helix - Pectus excavatum - Ptosis - Pyloric stenosis - Radial deviation of finger - Rectal prolapse - Recurrent otitis media - Renal hypoplasia - Self-mutilation - Short clavicles - Spastic diplegia - Syndactyly - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lenz microphthalmia syndrome +What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ?,"Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.",GARD,Microcephalic osteodysplastic primordial dwarfism type 1 +What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ?,"What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia). In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures. Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability. Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum). The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormal nasal morphology 90% Abnormal vertebral ossification 90% Abnormality of calcium-phosphate metabolism 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the clavicle 90% Abnormality of the distal phalanx of finger 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the intervertebral disk 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the upper urinary tract 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Delayed skeletal maturation 90% Glaucoma 90% Hypertonia 90% Intrauterine growth retardation 90% Large hands 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Micromelia 90% Premature birth 90% Prominent occiput 90% Proptosis 90% Reduced bone mineral density 90% Respiratory insufficiency 90% Seizures 90% Short neck 90% Short stature 90% Single transverse palmar crease 90% Abnormality of the tragus 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplasia of the zygomatic bone 50% Sloping forehead 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% 11 pairs of ribs - Abnormality of the pinna - Absent knee epiphyses - Agenesis of cerebellar vermis - Agenesis of corpus callosum - Atria septal defect - Autosomal recessive inheritance - Bowed humerus - Cleft vertebral arch - Coarctation of aorta - Disproportionate short stature - Dry skin - Elbow dislocation - Elbow flexion contracture - Enlarged metaphyses - Failure to thrive - Femoral bowing - Heterotopia - Hip contracture - Hip dislocation - Hyperkeratosis - Hypoplasia of the frontal lobes - Hypoplastic ilia - Intellectual disability - Knee flexion contracture - Long clavicles - Long foot - Low-set ears - Micropenis - Microtia - Oligohydramnios - Pachygyria - Platyspondyly - Prolonged neonatal jaundice - Prominent nose - Renal cyst - Renal hypoplasia - Short femur - Short humerus - Short metacarpal - Shoulder flexion contracture - Small anterior fontanelle - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Stillbirth - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephalic osteodysplastic primordial dwarfism type 1 +What causes Microcephalic osteodysplastic primordial dwarfism type 1 ?,What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)? Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.,GARD,Microcephalic osteodysplastic primordial dwarfism type 1 +Is Microcephalic osteodysplastic primordial dwarfism type 1 inherited ?,"How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Microcephalic osteodysplastic primordial dwarfism type 1 +What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ?,"How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.",GARD,Microcephalic osteodysplastic primordial dwarfism type 1 +What is (are) Familial avascular necrosis of the femoral head ?,"Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.",GARD,Familial avascular necrosis of the femoral head +What are the symptoms of Familial avascular necrosis of the femoral head ?,"What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial avascular necrosis of the femoral head +What are the symptoms of Melanoma astrocytoma syndrome ?,"What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Medulloblastoma 50% Meningioma 50% Astrocytoma - Autosomal dominant inheritance - Cutaneous melanoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Melanoma astrocytoma syndrome +What is (are) Mastocytic enterocolitis ?,"Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneous mastocytosis. It is unclear whether the accumulation of mast cells is a response to, or cause of, the mucosal inflammation that causes the symptoms of the condition. Most individuals with this condition respond well to drugs affecting mast cell function.",GARD,Mastocytic enterocolitis +What are the symptoms of Mastocytic enterocolitis ?,"What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although other signs and symptoms appear to have been reported by individuals on various online forums and support Web sites, we were unable to locate additional information about symptoms of the condition in the available medical literature. At this time, literature about mastocytic enterocolitis is scarce.",GARD,Mastocytic enterocolitis +How to diagnose Mastocytic enterocolitis ?,"How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsies without a special stain for tryptase, an enzyme present in mast cells. Mastocytic enterocolitis is diagnosed when excess mast cells are present in the small bowel or the colon.",GARD,Mastocytic enterocolitis +What are the treatments for Mastocytic enterocolitis ?,"How might mastocytic enterocolitis be treated? There is very limited information in the medical literature about the treatment of mastocytic enterocolitis. Options that have been suggested include antihistamines and/or medications that alter mast cell mediator release and function, or mast cell stabilizers. Symptoms of chronic diarrhea may be relieved by staying well-hydrated and avoiding dehydration; maintaining a well-balanced diet; and avoiding alcohol and beverages that contain caffeine. People with a diagnosis of mastocytic enterocolitis who are looking for specific treatment options should speak with their healthcare provider.",GARD,Mastocytic enterocolitis +"What is (are) Usher syndrome, type 1E ?","Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.",GARD,"Usher syndrome, type 1E" +"What are the symptoms of Usher syndrome, type 1E ?","What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular areflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Usher syndrome, type 1E" +"Is Usher syndrome, type 1E inherited ?","How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.",GARD,"Usher syndrome, type 1E" +"What are the symptoms of Maturity-onset diabetes of the young, type 1 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Maturity-onset diabetes of the young - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 1" +What are the symptoms of Stomatocytosis I ?,"What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hemolytic anemia - Increased intracellular sodium - Increased red cell osmotic fragility - Stomatocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stomatocytosis I +What is (are) Autoimmune gastrointestinal dysmotility ?,"Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms of AGID may include achalasia,gastroparesis, hypertrophic pyloric stenosis, intestinal pseudo-obstruction, megacolon and anal spasm. Treatment options for AGID includes symptom relief, treatment of any underlying neoplasm if necessary, immunotherapy and supportive treatment. Nutrition and hydration therapy as well as management of abdominal pain are important supportive treatment measures.",GARD,Autoimmune gastrointestinal dysmotility +What are the symptoms of Fingerprint body myopathy ?,"What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Myopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fingerprint body myopathy +What are the symptoms of Hypertrichosis congenital generalized X-linked ?,"What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Scoliosis 5% Congenital, generalized hypertrichosis - Hirsutism - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypertrichosis congenital generalized X-linked +What is (are) Familial esophageal achalasia ?,"Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss. Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.",GARD,Familial esophageal achalasia +What are the symptoms of Familial esophageal achalasia ?,"What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Achalasia - Autosomal recessive inheritance - Keratoconjunctivitis sicca - Rheumatoid arthritis - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial esophageal achalasia +What are the symptoms of Martinez Monasterio Pinheiro syndrome ?,"What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental morphology 50% Carious teeth 50% Conductive hearing impairment 50% Finger syndactyly 50% Hypertelorism 50% Long palpebral fissure 50% Abnormal hair quantity 7.5% Urogenital fistula 7.5% Anal atresia 5% Autosomal dominant inheritance - Cleft upper lip - Clinodactyly - Conical tooth - Distichiasis - Ectropion of lower eyelids - Hypodontia - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Martinez Monasterio Pinheiro syndrome +What is (are) Catecholaminergic polymorphic ventricular tachycardia ?,"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.",GARD,Catecholaminergic polymorphic ventricular tachycardia +What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ?,"What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Vertigo 50% Sudden cardiac death 7.5% Autosomal dominant inheritance - Seizures - Sudden death - Syncope - Ventricular tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Catecholaminergic polymorphic ventricular tachycardia +What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ?,"Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options.",GARD,Catecholaminergic polymorphic ventricular tachycardia +What are the symptoms of Ablepharon macrostomia syndrome ?,"What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Fine hair 90% Hypoplasia of the zygomatic bone 90% Neurological speech impairment 90% Underdeveloped nasal alae 90% Wide mouth 90% Abnormality of female external genitalia 50% Anteverted nares 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Camptodactyly of finger 50% Cognitive impairment 50% Cryptorchidism 50% Dry skin 50% Hearing impairment 50% Hypoplasia of penis 50% Microdontia 50% Myopia 50% Opacification of the corneal stroma 50% Thin skin 50% Umbilical hernia 50% Visual impairment 50% Abnormality of skin pigmentation 7.5% Atresia of the external auditory canal 7.5% Corneal erosion 7.5% Depressed nasal bridge 7.5% Omphalocele 7.5% Thin vermilion border 7.5% Toe syndactyly 7.5% Short upper lip 5% Talipes equinovarus 5% Ablepharon - Abnormal nasal morphology - Absent eyebrow - Absent eyelashes - Autosomal recessive inheritance - Cryptophthalmos - Delayed speech and language development - Hypertelorism - Microtia, third degree - Ventral hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ablepharon macrostomia syndrome +What is (are) Sacrococcygeal Teratoma ?,"A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth. If not all of the tumor is removed during the initial surgery, the teratoma may grow back (recur) and additional surgeries may be needed. Studies have found that sacrococcygeal teratomas recur in up to 22% of cases.",GARD,Sacrococcygeal Teratoma +What are the treatments for Sacrococcygeal Teratoma ?,"How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8",GARD,Sacrococcygeal Teratoma +What is (are) Lucey-Driscoll syndrome ?,"Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin. If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.",GARD,Lucey-Driscoll syndrome +What are the symptoms of Lucey-Driscoll syndrome ?,"What are the signs and symptoms of Lucey-Driscoll syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lucey-Driscoll syndrome +What causes Lucey-Driscoll syndrome ?,"What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin ""conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver. Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).",GARD,Lucey-Driscoll syndrome +What is (are) Acute intermittent porphyria ?,"Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.",GARD,Acute intermittent porphyria +What are the symptoms of Acute intermittent porphyria ?,"What are the signs and symptoms of Acute intermittent porphyria? Some people who inherit the gene for AIP never develop symptoms and are said to have ""latent"" AIP. Those individuals that present with symptoms usually do so after puberty, probably because of hormonal influences, although other activating factors include: alcohol, drugs (e.g., barbiturates, steroids, sulfa-containing antibiotics), chemicals, smoking, reduced caloric intake, stress, and travel. Symptoms usually last several days, but attacks for which treatment is not received promptly may last weeks or months. Abdominal pain, which is associated with nausea and can be severe, is the most common symptom and usually the first sign of an attack. Other symptoms may include : Gastrointestinal issues (e.g., nausea, vomiting, constipation, diarrhea, abdominal distention, ileus) Urinary tract issues (e.g., urinary retention, urinary incontinence, or dysuria) Neurological issues (e.g., muscle weakness in the arms or legs, paralysis) Psychiatric issues (e.g., insomnia, hysteria, anxiety, apathy or depression, phobias, psychosis, agitation, delirium, somnolence, or coma) Individuals with AIP have an increased risk of developing hepatocellular carcinoma; some develop kidney failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Acute intermittent porphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of urine homeostasis 90% Anorexia 90% Insomnia 90% Myalgia 90% Nausea and vomiting 90% Seizures 90% Arrhythmia 50% Constipation 50% Hyperhidrosis 50% Hypertensive crisis 50% Paresthesia 50% Abnormality of lipid metabolism 7.5% Arthralgia 7.5% Cranial nerve paralysis 7.5% Diaphragmatic paralysis 7.5% Hallucinations 7.5% Hemiplegia/hemiparesis 7.5% Hyponatremia 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Weight loss 7.5% Acute episodes of neuropathic symptoms - Anxiety - Autosomal dominant inheritance - Depression - Diarrhea - Dysuria - Elevated urinary delta-aminolevulinic acid - Hepatocellular carcinoma - Hypertension - Nausea - Paralytic ileus - Psychotic episodes - Respiratory paralysis - Tachycardia - Urinary incontinence - Urinary retention - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acute intermittent porphyria +What causes Acute intermittent porphyria ?,"What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the only gene known to be associated with AIP. However, the deficiency of PBGD alone is not enough to cause AIP. Other activating factors (e.g., hormones, drugs, dietary changes) must also be present.",GARD,Acute intermittent porphyria +Is Acute intermittent porphyria inherited ?,"How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.",GARD,Acute intermittent porphyria +How to diagnose Acute intermittent porphyria ?,"How is acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established. The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.",GARD,Acute intermittent porphyria +What are the treatments for Acute intermittent porphyria ?,"How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid balance and/or correcting electrolyte disturbances, monitoring neurologic status and administering respiratory support. Mild attacks can be manged with increased caloric intake and fluid replacement. Recurrent acute attacks should be managed by a porphyria specialist. Hospitalization is often necessary. Panhematin, an intravenous medication used to correct heme deficiency, may also be prescribed. More detailed information about the use of Panhematin for the treatment of AIP can be found by clicking here.",GARD,Acute intermittent porphyria +What are the symptoms of Summitt syndrome ?,"What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Epicanthus 90% Finger syndactyly 90% Genu valgum 90% Hypertelorism 90% Macrocephaly 90% Narrow face 90% Obesity 90% Plagiocephaly 90% Prominent metopic ridge 90% Tall stature 90% Abnormality of the metacarpal bones 50% Depressed nasal ridge 50% Strabismus 50% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Hypoplasia of penis 7.5% Low-set, posteriorly rotated ears 7.5% Autosomal recessive inheritance - Oxycephaly - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Summitt syndrome +What are the symptoms of Fucosidosis type 1 ?,"What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse facial features 90% Cognitive impairment 90% Frontal bossing 90% Hearing impairment 90% Hepatomegaly 90% Hyperhidrosis 90% Hyperkeratosis 90% Hypothyroidism 90% Kyphosis 90% Lipoatrophy 90% Mucopolysacchariduria 90% Skeletal dysplasia 90% Abnormality of the gallbladder 50% Hemiplegia/hemiparesis 50% Hypertonia 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Seizures 50% Skeletal muscle atrophy 50% Splenomegaly 50% Abnormal pyramidal signs 7.5% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Acrocyanosis 7.5% Cardiomegaly 7.5% Abnormality of the abdominal wall - Absent/hypoplastic coccyx - Absent/hypoplastic paranasal sinuses - Angiokeratoma - Anhidrosis - Anterior beaking of lumbar vertebrae - Anterior beaking of thoracic vertebrae - Autosomal recessive inheritance - Barrel-shaped chest - Cerebral atrophy - Cervical platyspondyly - Coxa valga - Dry skin - Dysostosis multiplex - Elevated sweat chloride - Flexion contracture - Hernia - Hypertelorism - Intellectual disability - Lumbar hyperlordosis - Macroglossia - Oligosacchariduria - Polyneuropathy - Prominent forehead - Scoliosis - Shield chest - Short stature - Spastic tetraplegia - Thick eyebrow - Thick lower lip vermilion - Tortuosity of conjunctival vessels - Vacuolated lymphocytes - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fucosidosis type 1 +What are the symptoms of Richieri Costa Da Silva syndrome ?,"What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent tibia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Richieri Costa Da Silva syndrome +What is (are) Nonbullous congenital ichthyosiform erythroderma ?,"Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.",GARD,Nonbullous congenital ichthyosiform erythroderma +What are the symptoms of Nonbullous congenital ichthyosiform erythroderma ?,"What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypohidrosis 90% Ectropion 5% Short finger 5% Short toe 5% Small nail 5% Thin nail 5% Abnormality of the hair - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Congenital nonbullous ichthyosiform erythroderma - External genital hypoplasia - Growth delay - Intellectual disability - Palmoplantar keratoderma - Paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nonbullous congenital ichthyosiform erythroderma +What are the treatments for Nonbullous congenital ichthyosiform erythroderma ?,"How might nonbullous congenital ichthyosiform erythroderma be treated? There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist. ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here.",GARD,Nonbullous congenital ichthyosiform erythroderma +What is (are) Fanconi Bickel syndrome ?,"Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. Puberty is delayed. FBS is inherited in an autosomal recessive manner and is caused by mutations in the SLC2A2 gene. Treatment is generally symptomatic.",GARD,Fanconi Bickel syndrome +What are the symptoms of Fanconi Bickel syndrome ?,"What are the signs and symptoms of Fanconi Bickel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi Bickel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal distention - Autosomal recessive inheritance - Chronic acidosis - Decreased subcutaneous fat - Elevated alkaline phosphatase - Failure to thrive - Generalized aminoaciduria - Glycosuria - Hyperphosphaturia - Hypokalemia - Hypophosphatemia - Hypouricemia - Impairment of galactose metabolism - Malabsorption - Osteomalacia - Poor appetite - Renal tubular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fanconi Bickel syndrome +What are the treatments for Fanconi Bickel syndrome ?,"How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.",GARD,Fanconi Bickel syndrome +What is (are) Juvenile primary lateral sclerosis ?,"Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.",GARD,Juvenile primary lateral sclerosis +What are the symptoms of Juvenile primary lateral sclerosis ?,"What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile primary lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Muscle weakness 90% Pseudobulbar signs 90% Feeding difficulties in infancy 50% Neurological speech impairment 50% Abnormality of the urinary system 7.5% Skeletal muscle atrophy 7.5% Abnormal upper motor neuron morphology - Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Childhood onset - Difficulty in tongue movements - Dysphagia - Juvenile onset - Pseudobulbar behavioral symptoms - Saccadic smooth pursuit - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - Spasticity of facial muscles - Spasticity of pharyngeal muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile primary lateral sclerosis +What causes Juvenile primary lateral sclerosis ?,"What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.",GARD,Juvenile primary lateral sclerosis +Is Juvenile primary lateral sclerosis inherited ?,"How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Juvenile primary lateral sclerosis +What is (are) Trichorhinophalangeal syndrome type 3 ?,"Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.",GARD,Trichorhinophalangeal syndrome type 3 +What are the symptoms of Trichorhinophalangeal syndrome type 3 ?,"What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormality of the nervous system - Accelerated bone age after puberty - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Cone-shaped epiphyses of the middle phalanges of the hand - Coxa magna - Delayed skeletal maturation - Dental crowding - Osteopenia - Pear-shaped nose - Protruding ear - Short finger - Short foot - Short metacarpal - Short metatarsal - Short palm - Short phalanx of finger - Smooth philtrum - Sparse hair - Sparse lateral eyebrow - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichorhinophalangeal syndrome type 3 +What are the symptoms of Infantile myofibromatosis ?,"What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the musculature 90% Bone cyst 90% Neoplasm of the skeletal system 90% Sarcoma 90% Abnormality of the skull 50% Abnormality of the thorax 50% Chondrocalcinosis 50% Gingival overgrowth 50% Neoplasm of the lung 50% Abnormality of the eye 7.5% Abnormality of the kidney 7.5% Abnormality of the sacrum 7.5% Benign neoplasm of the central nervous system 7.5% Hemiplegia/hemiparesis 7.5% Hypercalcemia 7.5% Intestinal obstruction 7.5% Irregular hyperpigmentation 7.5% Limitation of joint mobility 7.5% Neoplasm of the pancreas 7.5% Osteolysis 7.5% Skin ulcer 7.5% Tracheoesophageal fistula 7.5% Abnormality of connective tissue - Autosomal dominant inheritance - Fibroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infantile myofibromatosis +What are the symptoms of Striatonigral degeneration infantile ?,"What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Choreoathetosis - Developmental regression - Developmental stagnation - Dysphagia - Dystonia - Failure to thrive - Intellectual disability - Optic atrophy - Pendular nystagmus - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Striatonigral degeneration infantile +What are the symptoms of Congenital generalized lipodystrophy type 1 ?,"What are the signs and symptoms of Congenital generalized lipodystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Cystic angiomatosis of bone - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Insulin-resistant diabetes mellitus at puberty - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital generalized lipodystrophy type 1 +What is (are) Benign schwannoma ?,"Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of the head and neck and those involved with moving the arms and legs. Common symptoms include a slow-growing mass and Tinel's sign (an electric-like shock when the affected area is touched). The cause of schwannomas is unknown, but they sometimes occur in people with certain disorders including some types of neurofibromatosis. Benign schwannomas are typically treated with surgery.",GARD,Benign schwannoma +What are the symptoms of Benign schwannoma ?,What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor.,GARD,Benign schwannoma +What causes Benign schwannoma ?,"What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 is caused by mutations in the NF2 gene and schwannomatosis is caused by mutations in the SMARCB1 gene and the LZTR1 gene.",GARD,Benign schwannoma +Is Benign schwannoma inherited ?,"Are schwannomas inherited? Most schwannomas are not inherited. The vast majority of schwannomas occur by chance (sporadically) and as a single tumor. In these cases, people typically do not have affected family members. Around 5-10% of people develop multiple schwannomas. In these cases, the schwannomas may be due to an inherited condition which can be passed from parent to child. For example, neurofibromatosis type 2 and schwannomatosis are two conditions known to cause multiple schwannomas. Both of these conditions are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with neurofibromatosis type 2 or schwannomatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Benign schwannoma +How to diagnose Benign schwannoma ?,"Is genetic testing available for schwannomas? Genetic testing is not available for many individuals with schwannomas since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to schwannomas such as certain types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 2 and schwannomatosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How are schwannomas diagnosed? In addition to a complete physical exam and medical history, the following tests may be necessary to diagnose a schwannoma: x-ray, ultrasound, and/or magnetic resonance imaging (MRI). Some people may also need a biopsy of the tumor to confirm the diagnosis.",GARD,Benign schwannoma +What are the treatments for Benign schwannoma ?,"How might schwannoma be treated? The best treatment options for schwannoma depends on several factors, including the size and location of the tumor; whether the tumor is benign or malignant (cancerous); and the age and overall health of the affected person. For example, standard treatment for benign schwannomas is surgery to remove as much of the tumor as possible. People with malignant schwannomas may also be treated with radiation therapy and/or chemotherapy in addition to surgery. Because there is a chance that a schwannoma may return following surgery or treatment, regular follow-up with physical examinations and imaging should be discussed with a physician.",GARD,Benign schwannoma +What are the symptoms of Juberg Marsidi syndrome ?,"What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juberg Marsidi syndrome +What is (are) Mevalonic aciduria ?,"Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive. The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).",GARD,Mevalonic aciduria +What are the symptoms of Mevalonic aciduria ?,"What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Dolichocephaly 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Splenomegaly 90% Triangular face 90% Blue sclerae 50% Cataract 50% Incoordination 50% Low-set, posteriorly rotated ears 50% Kyphoscoliosis 5% Aciduria - Agenesis of cerebellar vermis - Arthralgia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Diarrhea - Edema - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Failure to thrive - Fluctuating hepatomegaly - Fluctuating splenomegaly - Large fontanelles - Leukocytosis - Low-set ears - Lymphadenopathy - Morbilliform rash - Normocytic hypoplastic anemia - Nystagmus - Posteriorly rotated ears - Progressive cerebellar ataxia - Skin rash - Thrombocytopenia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mevalonic aciduria +What are the treatments for Mevalonic aciduria ?,"How might mevalonic aciduria be treated? Treatment of mevalonic aciduria remains a challenge. There is no standard treatment that is effective in all patients, so it remains mainly supportive. Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation of mevalonic acid), which has been used with guarded success in patients with HIDS, worsened the clinical status of two patients with mevalonic aciduria. Anakinra, another medication used with some degree of success in HIDS patients, induced partial remission in at least one patient with mevalonic aciduria, but not all patients respond to so favorably. Reports of successful treatment of mevalonic aciduria through allogenic bone marrow transplantation have also surfaced. At this point, this therapy is investigational and potentially applicable to patients with mevalonic aciduria whose condition is resistant to therapy with anti-inflammatory drugs (e.g., inhibitors of TNF-alpha and interleukin-1 beta). The following articles provide additional details regarding treatment of mevalonic aciduria. Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics. 2007 Feb;119(2):e523-7. Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debr M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007 Jun 28;356(26):2700-3. Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med. 2007 Sep 27;357(13):1350.",GARD,Mevalonic aciduria +What is (are) Marshall-Smith syndrome ?,"Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.",GARD,Marshall-Smith syndrome +What are the symptoms of Marshall-Smith syndrome ?,"What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common. Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones). The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall-Smith syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Anteverted nares 90% Bowing of the long bones 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Hyperextensible skin 90% Joint hypermobility 90% Proptosis 90% Respiratory insufficiency 90% Skeletal dysplasia 90% Slender long bone 90% Thin skin 90% Abnormality of the tongue 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Hypertelorism 50% Hypertrichosis 50% Laryngomalacia 50% Open mouth 50% Recurrent fractures 50% Reduced bone mineral density 50% Scoliosis 50% Short nose 50% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Craniosynostosis 7.5% Gingival overgrowth 7.5% Optic atrophy 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Atlantoaxial dislocation - Atria septal defect - Autosomal dominant inheritance - Bullet-shaped middle phalanges of the hand - Cerebral atrophy - Choanal stenosis - Death in childhood - Decreased body weight - Distal widening of metacarpals - Failure to thrive - Glossoptosis - Hearing impairment - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular dentition - Large sternal ossification centers - Low-set ears - Macrogyria - Malar flattening - Motor delay - Muscular hypotonia - Obstructive sleep apnea - Omphalocele - Overfolded helix - Patent ductus arteriosus - Pectus excavatum - Prominence of the premaxilla - Prominent forehead - Pulmonary hypertension - Recurrent aspiration pneumonia - Retrognathia - Shallow orbits - Short distal phalanx of finger - Short mandibular rami - Short philtrum - Short sternum - Sporadic - Synophrys - Tall stature - Thick eyebrow - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marshall-Smith syndrome +"What are the symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation ?","What are the signs and symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, late-onset localized junctional, with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth - Autosomal recessive inheritance - Cleft palate - Dystrophic toenail - Intellectual disability - Late onset - Lens subluxation - Mandibular prognathia - Short philtrum - Thick upper lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa, late-onset localized junctional, with mental retardation" +What are the symptoms of Anterior polar cataract 2 ?,"What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anterior polar cataract 2 +What are the symptoms of Brachydactyly Mononen type ?,"What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Micromelia 90% Short distal phalanx of finger 90% Short hallux 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormal dermatoglyphics 50% Abnormality of epiphysis morphology 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Exostoses 50% Short stature 50% Symphalangism affecting the phalanges of the hand 50% Hernia of the abdominal wall 7.5% Absent distal phalanx of the 2nd toe - Aplasia of the distal phalanx of the 2nd finger - Mild short stature - Proximal fibular overgrowth - Short 1st metacarpal - Short first metatarsal - Synostosis of carpals/tarsals - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly Mononen type +What is (are) Hereditary sensory neuropathy type IE ?,"Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.",GARD,Hereditary sensory neuropathy type IE +What are the symptoms of Hereditary sensory neuropathy type IE ?,"What are the signs and symptoms of Hereditary sensory neuropathy type IE? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type IE. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apathy - Autosomal dominant inheritance - Cerebral atrophy - Decreased number of peripheral myelinated nerve fibers - Dementia - Hyporeflexia - Impulsivity - Irritability - Memory impairment - Osteomyelitis - Progressive - Sensorineural hearing impairment - Sensory neuropathy - Somnolence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary sensory neuropathy type IE +Is Hereditary sensory neuropathy type IE inherited ?,"How is hereditary sensory neuropathy type IE inherited? Hereditary sensory neuropathy type IE (HSNIE) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes HSNIE has children, each child has a 50% (1/2) chance to inherit the mutated gene. A person who does not inherit the mutation from an affected parent is not at risk to pass the condition on to his/her children.",GARD,Hereditary sensory neuropathy type IE +What are the treatments for Hereditary sensory neuropathy type IE ?,"How might hereditary sensory neuropathy type IE be treated? There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include: meticulous care of the distal limbs, which includes proper fit of shoes, prevention and treatment of callus formation, cleaning and protection of wounds, and avoidance of trauma to the hands and feet injury prevention when sensory impairment is significant the use of hearing aids and/or assistive communication methods as needed sedative or antipsychotic medications to help reduce the restlessness, roaming behavior, delusions, and hallucinations associated with dementia psychological support for caregivers",GARD,Hereditary sensory neuropathy type IE +What are the symptoms of Orofaciodigital syndrome 8 ?,"What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the palate 90% Abnormality of the voice 90% Anteverted nares 90% Bifid tongue 90% Blepharophimosis 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Chorioretinal coloboma 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% EEG abnormality 90% Finger syndactyly 90% Hearing abnormality 90% Increased number of teeth 90% Lip pit 90% Microcephaly 90% Non-midline cleft lip 90% Nystagmus 90% Polyhydramnios 90% Postaxial hand polydactyly 90% Prominent nasal bridge 90% Short philtrum 90% Short stature 90% Synophrys 90% Tapered finger 90% Telecanthus 90% Upslanted palpebral fissure 90% Ventriculomegaly 90% Wide nasal bridge 90% Bifid nasal tip - Broad nasal tip - Cleft palate - High palate - Hypertelorism - Hypoplasia of the epiglottis - Median cleft lip - Milia - Polydactyly - Recurrent aspiration pneumonia - Short tibia - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 8 +What are the symptoms of Insulinoma ?,"What are the signs and symptoms of Insulinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insulinoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Insulinoma +What is (are) Farber's disease ?,"Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.",GARD,Farber's disease +What are the symptoms of Farber's disease ?,"What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Hepatomegaly 90% Joint swelling 90% Laryngomalacia 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the skin 50% Abnormality of the voice 50% Kyphosis 50% Nystagmus 50% Recurrent respiratory infections 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Skeletal muscle atrophy 50% Abnormality of the macula 7.5% Cognitive impairment 7.5% Opacification of the corneal stroma 7.5% Pulmonary fibrosis 7.5% Splenomegaly 7.5% Arthritis - Autosomal recessive inheritance - Cherry red spot of the macula - Failure to thrive - Hoarse cry - Intellectual disability - Irritability - Lipogranulomatosis - Motor delay - Periarticular subcutaneous nodules - Progressive - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Farber's disease +What is (are) Singleton Merten syndrome ?,"Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual.",GARD,Singleton Merten syndrome +What are the symptoms of Singleton Merten syndrome ?,"What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and/or progressive thinning and loss of protein of the bones (osteoporosis). Between the ages of four to 24 months, most affected infants experience generalized muscle weakness and loss or wasting away (atrophy) of muscle tissue. In approximately half of the reported cases, these symptoms begin after an episode of illness associated with a fever. Affected infants may also show delays in general physical development, possibly resulting in short stature or delays in the ability to coordinate muscles and perform certain tasks (motor development). Abnormalities affecting the teeth also occur at an early age in individuals with Singleton Merten syndrome. Affected infants may develop cavities and lose their primary teeth prematurely. Certain permanent teeth may not develop or may erupt late; those permanent teeth that do develop are usually malformed. In some cases, permanent teeth may also be lost prematurely. By late infancy or early childhood, affected individuals may experience symptoms associated with the progressive accumulation of calcium deposits (calcifications) in the aorta and on certain valves of the heart. The aorta arises from the lower pumping chamber of the heart (left ventricle) and supplies oxygen-rich blood to all the arteries of the body (excluding the pulmonary artery). In individuals with Singleton Merten Syndrome, calcifications form in the portion of the aorta nearest the heart (proximal thoracic aorta). The accumulation of calcium deposits is progressive and typically causes blockage and narrowing of the aorta (called calcific aortic stenosis), obstructing the flow of oxygenated blood. In some cases, abnormal calcium deposits may also develop around the valve on the left side of the heart (mitral valve calcification). As a result of calcification of these various structures, affected individuals may experience high blood pressure (hypertension); abnormal transmission of electrical impulses (conduction) that coordinate the activity of the heart muscle (heart block); abnormal contractions of the heart (systolic murmurs); and/or abnormal enlargement of the heart (cardiomegaly). By late adolescence, the heart may be unable to pump blood effectively, causing heart failure and leading to life-threatening complications. Infants with Singleton Merten syndrome may also experience abnormal thinning and weakness of the bones (osteoporosis). As a result, bones are frequently brittle and may fracture easily. Osteoporosis may occur in the skull and the long bones of the arms and legs, but is most prominent in the bones of the hands and fingers. Other findings associated with Singleton Merten syndrome may include malformations of the hips and feet that may occur due to muscle weakness; wearing away (erosion) of the bones in the tips of the fingers (terminal phalanges); and/or a chronic skin condition characterized by red, thick, scaly patches of skin (psoriasiform skin eruption). In some cases, affected individuals may have abnormal accumulation of pressure of the fluid of the eye (glaucoma) and/or abnormal sensitivity to light (photosensitivity). The Human Phenotype Ontology provides the following list of signs and symptoms for Singleton Merten syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic arch calcification - Aortic valve calcification - Aortic valve stenosis - Autosomal dominant inheritance - Broad forehead - Cardiomegaly - Carious teeth - Congestive heart failure - Coxa valga - Cutaneous photosensitivity - Decreased body weight - Expanded metacarpals with widened medullary cavities - Expanded metatarsals with widened medullary cavities - Expanded phalanges with widened medullary cavities - Genu valgum - Glaucoma - High anterior hairline - Hip dislocation - Hip Subluxation - Hypoplasia of the maxilla - Hypoplasia of the tooth germ - Hypoplastic distal radial epiphyses - Mitral valve calcification - Muscle weakness - Muscular hypotonia - Myopia - Onycholysis - Osteolytic defects of the phalanges of the hand - Osteoporosis - Pes cavus - Recurrent respiratory infections - Shallow acetabular fossae - Short stature - Smooth philtrum - Subaortic stenosis - Talipes equinovarus - Tendon rupture - Unerupted tooth - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Singleton Merten syndrome +How to diagnose Singleton Merten syndrome ?,"How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and/or a variety of specialized tests. The identification of calcium deposits in the aorta, in association with the other findings described above, strongly suggests a diagnosis of Singleton Merten syndrome. X-ray tests may be used to confirm the presence and extent of calcifications in the aorta. Obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves, may be confirmed by cardiac catheterization. During this procedure, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis. Osteoporosis may be suspected when bone fractures occur more frequently than usual. X-ray tests may also reveal abnormal widening of the hollow parts of the bones that contain soft fatty tissue (bone marrow cavities) within the bones of the hands and/or feet.",GARD,Singleton Merten syndrome +What are the treatments for Singleton Merten syndrome ?,"How might Singleton Merten syndrome be treated? The treatment of Singleton Merten syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat abnormalities of the heart (cardiologists), dental specialists, physical therapists, specialists who diagnose and treat conditions of the skin (dermatologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment. Specific therapies for the treatment of Singleton Merten syndrome are symptomatic and supportive. Special services that may be beneficial to affected children may include special social support, physical therapy, and other medical, social, and/or vocational services. Genetic counseling would be of benefit for affected individuals and their families.",GARD,Singleton Merten syndrome +What are the symptoms of Thyroid hormone plasma membrane transport defect ?,"What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Euthyroid hyperthyroxinemia - Goiter - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thyroid hormone plasma membrane transport defect +What is (are) 22q13.3 deletion syndrome ?,"22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.",GARD,22q13.3 deletion syndrome +What are the symptoms of 22q13.3 deletion syndrome ?,"What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Accelerated skeletal maturation 90% Delayed speech and language development 90% Hypoplastic toenails 90% Impaired pain sensation 90% Large hands 90% Muscular hypotonia 90% Neonatal hypotonia 90% Neurological speech impairment 90% Tall stature 90% Autism 75% Bruxism 75% Hyperorality 75% Long eyelashes 75% Poor eye contact 75% Abnormal nasal morphology 50% Abnormality of immune system physiology 50% Behavioral abnormality 50% Broad-based gait 50% Bulbous nose 50% Deeply set eye 50% Dolichocephaly 50% Full cheeks 50% Heat intolerance 50% Hypohidrosis 50% Macrotia 50% Malar flattening 50% Palpebral edema 50% Pointed chin 50% Ptosis 50% Sacral dimple 50% Thick eyebrow 50% Unsteady gait 50% Wide nasal bridge 50% 2-3 toe syndactyly 33% Clinodactyly of the 5th finger 33% Dental malocclusion 33% Epicanthus 33% Episodic vomiting 33% Gastroesophageal reflux 33% High palate 33% Long philtrum 33% Lymphedema 33% Seizures 33% Strabismus 33% Aggressive behavior 25% Hearing impairment 20% Arachnoid cyst 15% Tongue thrusting 15% Cellulitis 10% Abnormality of the periventricular white matter 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Delayed CNS myelination 7.5% Macrocephaly 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Cortical visual impairment 6% Microcephaly 1% Concave nasal ridge - Feeding difficulties - Generalized hypotonia - Hyporeflexia - Intellectual disability, moderate - Motor delay - Prominent supraorbital ridges - Protruding ear - Short chin - Sporadic - Toenail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,22q13.3 deletion syndrome +What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ?,"What are the signs and symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the nervous system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebral sclerosis similar to Pelizaeus-Merzbacher disease +What is (are) Glutamate formiminotransferase deficiency ?,"Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern.",GARD,Glutamate formiminotransferase deficiency +What are the symptoms of Glutamate formiminotransferase deficiency ?,"What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glutamate formiminotransferase deficiency +What is (are) Linear scleroderma ?,"Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed ""en coup de sabre"". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems.",GARD,Linear scleroderma +What is (are) Isodicentric chromosome 15 syndrome ?,"Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Isodicentric chromosome 15 syndrome +What is (are) Tietz syndrome ?,"Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.",GARD,Tietz syndrome +What are the symptoms of Tietz syndrome ?,"What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tietz syndrome +How to diagnose Tietz syndrome ?,"How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.",GARD,Tietz syndrome +What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ?,"Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).",GARD,Autosomal recessive pseudohypoaldosteronism type 1 +What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ?,"What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Feeding difficulties in infancy - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperkalemia - Hyponatremia - Hypotension - Infantile onset - Metabolic acidosis - Pseudohypoaldosteronism - Recurrent respiratory infections - Renal salt wasting - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive pseudohypoaldosteronism type 1 +What is (are) Idiopathic thrombocytopenic purpura ?,"Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.",GARD,Idiopathic thrombocytopenic purpura +What are the symptoms of Idiopathic thrombocytopenic purpura ?,"What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic thrombocytopenic purpura +What are the symptoms of Wiedemann Oldigs Oppermann syndrome ?,"What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of calvarial morphology 90% Abnormality of the clavicle 90% Abnormality of the elbow 90% Abnormality of the fingernails 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the earlobes 90% Astigmatism 90% Cognitive impairment 90% Epicanthus 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Hyperuricemia 90% Long thorax 90% Narrow chest 90% Pectus carinatum 90% Proptosis 90% Proximal placement of thumb 90% Strabismus 90% Tracheal stenosis 90% Wide nasal bridge 90% Wormian bones 90% Autosomal dominant inheritance - Brachycephaly - Coxa valga - Down-sloping shoulders - Hirsutism - Intellectual disability - Long neck - Pes cavus - Skeletal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wiedemann Oldigs Oppermann syndrome +What are the symptoms of Spastic paraplegia 16 ?,"What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 16 +What is (are) Actinomycosis ?,"Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.",GARD,Actinomycosis +"What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ?","What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - High-frequency hearing impairment - Juvenile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, autosomal dominant nonsyndromic sensorineural 17" +What are the symptoms of Pseudoprogeria syndrome ?,"What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudoprogeria syndrome +What are the symptoms of Alopecia-intellectual disability syndrome ?,"What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hearing impairment 90% Microcephaly 90% Muscular hypotonia 90% Abnormality of the genital system 50% Brachydactyly syndrome 50% EEG abnormality 50% Ichthyosis 50% Photophobia 50% Seizures 50% Short stature 50% Split hand 50% Abnormal nasal morphology 7.5% Flexion contracture 7.5% Macrotia 7.5% Scoliosis 7.5% Alopecia universalis - Autosomal recessive inheritance - Intellectual disability, progressive - Intellectual disability, severe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia-intellectual disability syndrome +What is (are) Tumor necrosis factor receptor-associated periodic syndrome ?,"Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.",GARD,Tumor necrosis factor receptor-associated periodic syndrome +What are the symptoms of Tumor necrosis factor receptor-associated periodic syndrome ?,"What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. The time between episodes can vary considerably from weeks to years. Fevers are often associated with other symptoms, which may include muscle, joint, and/or abdominal pain; a spreading rash; puffiness and/or swelling around the eyes; and/or inflammation in various other areas of the body including the heart muscle, joints, throat, or mucous membranes. About 25% of people with TRAPS develop amyloidosis, which can lead to kidney or liver failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Tumor necrosis factor receptor-associated periodic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Erysipelas 90% Hypermelanotic macule 90% Skin rash 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Arthritis 50% Chest pain 50% Constipation 50% Intestinal obstruction 50% Leukocytosis 50% Myalgia 50% Nausea and vomiting 50% Orchitis 50% Periorbital edema 50% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Abnormality of the sacroiliac joint 7.5% Alopecia 7.5% Behavioral abnormality 7.5% Bruising susceptibility 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Fasciitis 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Migraine 7.5% Myositis 7.5% Nephropathy 7.5% Paresthesia 7.5% Peritonitis 7.5% Recurrent pharyngitis 7.5% Splenomegaly 7.5% Vasculitis 7.5% Vertigo 7.5% Visual impairment 7.5% Amyloidosis - Autosomal dominant inheritance - Edema - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatic amyloidosis - Muscle stiffness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tumor necrosis factor receptor-associated periodic syndrome +What causes Tumor necrosis factor receptor-associated periodic syndrome ?,"What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS.",GARD,Tumor necrosis factor receptor-associated periodic syndrome +Is Tumor necrosis factor receptor-associated periodic syndrome inherited ?,"How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.",GARD,Tumor necrosis factor receptor-associated periodic syndrome +What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ?,"How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site.",GARD,Tumor necrosis factor receptor-associated periodic syndrome +What is (are) Stickler syndrome type 1 ?,"Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.",GARD,Stickler syndrome type 1 +What are the symptoms of Stickler syndrome type 1 ?,"What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stickler syndrome type 1 +What are the symptoms of Zunich neuroectodermal syndrome ?,"What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Zunich neuroectodermal syndrome +What are the symptoms of Tubulointerstitial nephritis and uveitis ?,"What are the signs and symptoms of Tubulointerstitial nephritis and uveitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tubulointerstitial nephritis and uveitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Panuveitis 5% Abnormality of the mouth - Acute tubulointerstitial nephritis - Circulating immune complexes - Elevated serum creatinine - Glomerulonephritis - Non-caseating epithelioid cell granulomatosis - Reversible renal failure - Sporadic - Uveitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tubulointerstitial nephritis and uveitis +What are the symptoms of Banki syndrome ?,"What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Banki syndrome +What are the symptoms of Severe congenital neutropenia X-linked ?,"What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Decreased antibody level in blood 90% Abnormality of the skin - Congenital neutropenia - Recurrent bacterial infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Severe congenital neutropenia X-linked +What are the symptoms of Macrothrombocytopenia progressive deafness ?,"What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Macrothrombocytopenia progressive deafness +What is (are) Klinefelter syndrome ?,"Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or infertility. KS is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). Treatment is based on the signs and symptoms present in each person.",GARD,Klinefelter syndrome +What are the symptoms of Klinefelter syndrome ?,"What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include: Small, firm testicles Delayed or incomplete puberty Breast growth (gynecomastia) Reduced facial and body hair Infertility Tall height Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Learning disablity Speech delay Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Klinefelter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Decreased fertility 90% Disproportionate tall stature 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of movement 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Eunuchoid habitus 50% Hypoplasia of penis 50% Long face 50% Mandibular prognathia 50% Obesity 50% Reduced bone mineral density 50% Scoliosis 50% Single transverse palmar crease 50% Venous insufficiency 50% Abnormality of calvarial morphology 7.5% Abnormality of the mitral valve 7.5% Neoplasm 7.5% Type II diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Klinefelter syndrome +What causes Klinefelter syndrome ?,"What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46, XY), while females have two X chromosomes (46, XX). People with Klinefelter syndrome usually have two X chromosomes and one Y chromosome (47, XXY). Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome. It is estimated that about half of the time, the cell division error occurs during development of the sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome. The features of Klinefelter syndrome are due to the extra copies of genes on the extra X chromosome, which can alter male sexual development.",GARD,Klinefelter syndrome +Is Klinefelter syndrome inherited ?,"Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells.",GARD,Klinefelter syndrome +How to diagnose Klinefelter syndrome ?,How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype). It is also possible to diagnosis Klinefelter syndrome before birth through chorionic villous sampling or amniocentesis.,GARD,Klinefelter syndrome +What are the treatments for Klinefelter syndrome ?,"How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Therapeutic options - A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Medical management - About half of people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy. Some affected people may opt to have breast removal or reduction surgery. The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource.",GARD,Klinefelter syndrome +What is (are) Juvenile spondyloarthropathy ?,"Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.",GARD,Juvenile spondyloarthropathy +What is (are) Borjeson-Forssman-Lehmann syndrome ?,"Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.",GARD,Borjeson-Forssman-Lehmann syndrome +What are the symptoms of Borjeson-Forssman-Lehmann syndrome ?,"What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Broad foot 90% Camptodactyly of toe 90% Coarse facial features 90% Cognitive impairment 90% Cryptorchidism 90% Gynecomastia 90% Hypoplasia of penis 90% Large earlobe 90% Muscular hypotonia 90% Scrotal hypoplasia 90% Short toe 90% Tapered finger 90% Truncal obesity 90% Blepharophimosis 50% Deeply set eye 50% Prominent supraorbital ridges 50% Ptosis 50% Thick eyebrow 50% Abnormality of the hip bone 7.5% Cataract 7.5% Hearing impairment 7.5% Joint hypermobility 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Oral cleft 7.5% Peripheral neuropathy 7.5% Seizures 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Cervical spinal canal stenosis - Delayed puberty - EEG abnormality - Hypoplasia of the prostate - Intellectual disability, severe - Kyphosis - Macrotia - Micropenis - Obesity - Scheuermann-like vertebral changes - Scoliosis - Shortening of all distal phalanges of the fingers - Shortening of all middle phalanges of the fingers - Thickened calvaria - Visual impairment - Widely spaced toes - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Borjeson-Forssman-Lehmann syndrome +What is (are) Lactate dehydrogenase deficiency ?,"Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.",GARD,Lactate dehydrogenase deficiency +What are the symptoms of Dermatoleukodystrophy ?,"What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermatoleukodystrophy +What are the symptoms of Progressive familial heart block type 1A ?,"What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive familial heart block type 1A +What are the symptoms of Bardet-Biedl syndrome 10 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 10 +What are the symptoms of Sulfite oxidase deficiency ?,"What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sulfite oxidase deficiency +What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ?,"Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).",GARD,Sideroblastic anemia pyridoxine-refractory autosomal recessive +What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ?,"What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Heterogeneous - Increased serum ferritin - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sideroblastic anemia pyridoxine-refractory autosomal recessive +What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ?,What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.,GARD,Sideroblastic anemia pyridoxine-refractory autosomal recessive +What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ?,"How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.",GARD,Sideroblastic anemia pyridoxine-refractory autosomal recessive +"What are the symptoms of Agammaglobulinemia, non-Bruton type ?","What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agammaglobulinemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Crohn's disease - Diarrhea - Failure to thrive - Infantile onset - Neutropenia - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Agammaglobulinemia, non-Bruton type" +What is (are) Majeed syndrome ?,"Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.",GARD,Majeed syndrome +What are the symptoms of Majeed syndrome ?,"What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Majeed syndrome +What causes Majeed syndrome ?,"What causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.",GARD,Majeed syndrome +Is Majeed syndrome inherited ?,"How is Majeed syndrome inherited? Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.",GARD,Majeed syndrome +What are the treatments for Majeed syndrome ?,"How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.",GARD,Majeed syndrome +What are the symptoms of Hairy palms and soles ?,"What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypermelanotic macule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hairy palms and soles +What is (are) Dextrocardia with situs inversus ?,"Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.",GARD,Dextrocardia with situs inversus +What causes Dextrocardia with situs inversus ?,"What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases. Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families.",GARD,Dextrocardia with situs inversus +Is Dextrocardia with situs inversus inherited ?,"Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Dextrocardia with situs inversus +How to diagnose Dextrocardia with situs inversus ?,"How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.",GARD,Dextrocardia with situs inversus +What are the treatments for Dextrocardia with situs inversus ?,"How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource.",GARD,Dextrocardia with situs inversus +What are the symptoms of Chudley Rozdilsky syndrome ?,"What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the palate 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Disproportionate tall stature 90% Facial palsy 90% Hyperlordosis 90% Hypertelorism 90% Hypoplasia of penis 90% Myopia 90% Ophthalmoparesis 90% Ptosis 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Limitation of joint mobility 50% Microcephaly 50% Prominent nasal bridge 50% Abnormality of the ribs 7.5% Facial asymmetry 7.5% Pectus carinatum 7.5% Tracheoesophageal fistula 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Hypogonadotrophic hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Myopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chudley Rozdilsky syndrome +What is (are) Tracheobronchopathia osteoplastica ?,"Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.",GARD,Tracheobronchopathia osteoplastica +What are the symptoms of Tracheobronchopathia osteoplastica ?,"What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tracheobronchopathia osteoplastica +What causes Tracheobronchopathia osteoplastica ?,"What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.",GARD,Tracheobronchopathia osteoplastica +Is Tracheobronchopathia osteoplastica inherited ?,"Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.",GARD,Tracheobronchopathia osteoplastica +How to diagnose Tracheobronchopathia osteoplastica ?,"How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.",GARD,Tracheobronchopathia osteoplastica +What are the treatments for Tracheobronchopathia osteoplastica ?,"How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.",GARD,Tracheobronchopathia osteoplastica +What are the symptoms of Carney triad ?,"What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carney triad +What are the symptoms of Woodhouse Sakati syndrome ?,"What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Arrhythmia 90% Cognitive impairment 90% Hearing impairment 90% Type I diabetes mellitus 90% Anodontia 5% Hallucinations 5% Prominent nasal bridge 5% Protruding ear 5% Psychosis 5% Triangular face 5% Abnormality of extrapyramidal motor function - Alopecia - Autosomal recessive inheritance - Choreoathetosis - Decreased serum testosterone level - Decreased testicular size - Diabetes mellitus - Dysarthria - Dystonia - EKG: T-wave abnormalities - Fine hair - Hypergonadotropic hypogonadism - Hyperlipidemia - Hypogonadotrophic hypogonadism - Hypoplasia of the fallopian tube - Hypoplasia of the uterus - Intellectual disability - Micropenis - Phenotypic variability - Primary ovarian failure - Sensorineural hearing impairment - Sparse hair - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Woodhouse Sakati syndrome +"What are the symptoms of Hypercholesterolemia, autosomal dominant ?","What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hypercholesterolemia, autosomal dominant" +What is (are) Keratoconus ?,"Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.",GARD,Keratoconus +What are the symptoms of Keratoconus ?,"What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratoconus +What are the treatments for Keratoconus ?,"What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition. Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.",GARD,Keratoconus +What are the symptoms of Spinocerebellar ataxia 26 ?,"What are the signs and symptoms of Spinocerebellar ataxia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 26. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Impaired horizontal smooth pursuit - Incoordination - Limb ataxia - Nystagmus - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 26 +What is (are) Acute alcohol sensitivity ?,"Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.",GARD,Acute alcohol sensitivity +What are the symptoms of Acute alcohol sensitivity ?,"What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acute alcohol sensitivity +What are the symptoms of RHYNS syndrome ?,"What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment - Deeply set eye - Growth hormone deficiency - Nephronophthisis - Pituitary hypothyroidism - Ptosis - Renal insufficiency - Rod-cone dystrophy - Skeletal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,RHYNS syndrome +What are the symptoms of Multiple pterygium syndrome X-linked ?,"What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple pterygium syndrome X-linked +What are the symptoms of Deafness conductive ptosis skeletal anomalies ?,"What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the hip bone 90% Atresia of the external auditory canal 90% Blepharophimosis 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Elbow dislocation 90% Epicanthus 90% Fine hair 90% Narrow nasal bridge 90% Ptosis 90% Abnormality of the palate 50% Myopia 50% Single transverse palmar crease 50% Autosomal recessive inheritance - Chronic otitis media - Ectodermal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness conductive ptosis skeletal anomalies +What is (are) Dopa-responsive dystonia ?,"Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. Although movement difficulties usually worsen with age, they often stabilize around age 30. DRD may be caused by mutations in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. This form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa.",GARD,Dopa-responsive dystonia +What are the symptoms of Dopa-responsive dystonia ?,"What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dopa-responsive dystonia +Is Dopa-responsive dystonia inherited ?,"How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the gene is enough to cause signs and symptoms of the disorder. In some cases, an affected person inherits the mutation from an affected parent; other cases result from having a new (de novo) mutation in the gene. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Some people who inherit a mutated GCH1 gene never develop features of DRD; this phenomenon is known as reduced penetrance. When DRD is caused by mutations in the TH gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both of their copies of the gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one copy of the mutated gene and are referred to as carriers. Carriers typically do not have signs or symptoms. When parents who are both carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. When DRD is caused by mutations in the SPR gene, it can be inherited in an autosomal recessive or autosomal dominant manner.",GARD,Dopa-responsive dystonia +How to diagnose Dopa-responsive dystonia ?,"How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.",GARD,Dopa-responsive dystonia +What is (are) Juvenile amyotrophic lateral sclerosis ?,"Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.",GARD,Juvenile amyotrophic lateral sclerosis +What are the symptoms of Juvenile amyotrophic lateral sclerosis ?,"What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]",GARD,Juvenile amyotrophic lateral sclerosis +What causes Juvenile amyotrophic lateral sclerosis ?,What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.,GARD,Juvenile amyotrophic lateral sclerosis +What are the treatments for Juvenile amyotrophic lateral sclerosis ?,"How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.",GARD,Juvenile amyotrophic lateral sclerosis +What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ?,"What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amaurosis congenita cone-rod type with congenital hypertrichosis +What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ?,"What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar degeneration and corneal dystrophy +"What is (are) Usher syndrome, type 1B ?","Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.",GARD,"Usher syndrome, type 1B" +"What are the symptoms of Usher syndrome, type 1B ?","What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Usher syndrome, type 1B" +"Is Usher syndrome, type 1B inherited ?","How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.",GARD,"Usher syndrome, type 1B" +What is (are) 15q11.2 microdeletion ?,"15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.",GARD,15q11.2 microdeletion +What are the symptoms of 15q11.2 microdeletion ?,"What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity. The most commonly reported features in people with a 15q11.2 microdeletion include neurological dysfunction, developmental delay, language delay, motor delay, ADD/ADHD, and autism spectrum disorder. Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy. You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion. The Human Phenotype Ontology provides the following list of signs and symptoms for 15q11.2 microdeletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Ataxia - Autistic behavior - Autosomal dominant inheritance - Broad forehead - Cleft palate - Clumsiness - Delayed speech and language development - Feeding difficulties - Happy demeanor - Hypertelorism - Incomplete penetrance - Intellectual disability - Muscular hypotonia - Obsessive-compulsive behavior - Plagiocephaly - Seizures - Slender finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,15q11.2 microdeletion +What causes 15q11.2 microdeletion ?,"What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.",GARD,15q11.2 microdeletion +What is (are) Noonan syndrome 1 ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome 1 +What are the symptoms of Noonan syndrome 1 ?,"What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan syndrome 1 +What are the treatments for Noonan syndrome 1 ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome 1 +What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ?,"What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive nonsyndromic congenital nuclear cataract +What are the symptoms of Aniridia absent patella ?,"What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aniridia absent patella +What is (are) Ehlers-Danlos syndrome ?,"Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.",GARD,Ehlers-Danlos syndrome +What are the symptoms of Ehlers-Danlos syndrome ?,"What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a ""marfanoid habitus"" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.",GARD,Ehlers-Danlos syndrome +What causes Ehlers-Danlos syndrome ?,"What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder.",GARD,Ehlers-Danlos syndrome +Is Ehlers-Danlos syndrome inherited ?,"Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Ehlers-Danlos syndrome +How to diagnose Ehlers-Danlos syndrome ?,"How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with Ehlers-Danlos syndrome often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of Ehlers-Danlos syndrome; however, it is not an option for most families with the hypermobility type. Imaging studies such as CT scan, MRI, ultrasound, and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing kyphoscoliosis type.",GARD,Ehlers-Danlos syndrome +What are the treatments for Ehlers-Danlos syndrome ?,"How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more specific information on the treatment of each subtype, please click on the links below: Hypermobility type Classic type Vascular type Kyphoscoliosis type Arthrochalasia type Dermatosparaxis type Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,Ehlers-Danlos syndrome +What is (are) Adult-onset vitelliform macular dystrophy ?,"Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.",GARD,Adult-onset vitelliform macular dystrophy +What are the symptoms of Adult-onset vitelliform macular dystrophy ?,"What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision). Cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss. The condition is usually bilateral (affecting both eyes). It usually does not affect peripheral vision or the ability to see at night. Studies have revealed much variability in the signs, symptoms and progression of this condition. It has been reported that while one individual may not have significant changes in visual acuity over several years, another may experience ongoing visual loss. It has been suggested that in the majority of affected individuals, progression of functional loss is limited. In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset vitelliform macular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Visual impairment 90% Abnormality of color vision 50% Abnormality of retinal pigmentation 50% Choroideremia 50% Visual field defect 50% Retinal detachment 7.5% Autosomal dominant inheritance - Macular atrophy - Macular dystrophy - Metamorphopsia - Photophobia - Reduced visual acuity - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adult-onset vitelliform macular dystrophy +What causes Adult-onset vitelliform macular dystrophy ?,"What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial). More studies are needed to better define other underlying causes that might be present, whether of genetic or environmental origin. Currently known genetic causes include mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes. It is additionally suspected that AVMD might be associated with a single-nucleotide polymorphism (variant DNA sequence) in the HTRA1 gene. Single-nucleotide polymorphisms in the HTRA1 gene are additionally associated with age-related macular degeneration.",GARD,Adult-onset vitelliform macular dystrophy +Is Adult-onset vitelliform macular dystrophy inherited ?,"How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.",GARD,Adult-onset vitelliform macular dystrophy +What are the treatments for Adult-onset vitelliform macular dystrophy ?,"How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Intravitreal injections of either Ranibizumab or Bevacizumab may be effective in the short-term. Transcorneal electrical stimulation has also been found to improve visual acuity in individuals with this condition.",GARD,Adult-onset vitelliform macular dystrophy +What is (are) Granuloma annulare ?,"Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.",GARD,Granuloma annulare +What are the symptoms of Granuloma annulare ?,"What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs.",GARD,Granuloma annulare +What causes Granuloma annulare ?,"What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepatitis C, and herpes zoster. Occasionally, granuloma annulare may be associated with diabetes or thyroid disease.",GARD,Granuloma annulare +What are the treatments for Granuloma annulare ?,"How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. Sometimes, however, the rings can remain for many years. Very strong topical steroid creams or ointments may be used to speed the disappearance of the lesions. Injections of steroids directly into the rings may also be effective. Some physicians may choose to freeze the lesions with liquid nitrogen. In severe cases, ultraviolet light therapy (PUVA) or oral medications may be needed. Other treatments that have been tried include : Dapsone (a type of antibiotic) for widespread granuloma annulare Isotretinoin Etretinate (not available in the US) Hydroxychloroquine Chloroquine Cyclosporine Niacinamide Oral psoralen Vitamin E combined with a 5-lipoxygenase inhibitor Fumaric acid esters Topical tacrolimus Pimecrolimus Infliximab (in a patient with disseminated granuloma annulare that did not respond to other treatments) A review article titled, 'Diagnosis and Management of Granuloma Annulare' provides additional information on treatment options for granuloma annulare: http://www.aafp.org/afp/20061115/1729.html Also, an article from Medscape Reference provides information on treatment for granuloma annulare at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1123031-overview",GARD,Granuloma annulare +What is (are) Buschke Ollendorff syndrome ?,"Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS. BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.",GARD,Buschke Ollendorff syndrome +What are the symptoms of Buschke Ollendorff syndrome ?,"What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). Occasionally, they may be on the head. The nevi are usually nontender and firm, and are typically first noticeable as slightly elevated and flattened yellowish bumps, grouped together and forming plaques that may be several centimeters in diameter. The plaques are typically of irregular shape. They are usually numerous, painless, and develop over several years. The osteopoikilosis typically occurs in the long bones, wrist, foot, ankle, pelvis, and scapula. They are harmless and usually found by chance when radiographs are taken for other purposes, although pain and limited joint mobility have been reported in some individuals. In some individuals, only skin or bone manifestations may be present. Other signs and symptoms of BOS may include nasolacrimal duct obstruction, amblyopia (""lazy eye""), strabismus, benign lymphoid hyperplasia, hypopigmentation (abnormally light skin), and short stature. Congenital spinal stenosis (narrowing of the spine), disc herniation, clubfoot deformity, and nerve root compression may be present. Otosclerosis (abnormal growth of bone in the middle ear) with or without hearing loss may occur, but is rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Buschke Ollendorff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of epiphysis morphology 90% Abnormality of the aorta 90% Abnormality of the metaphyses 90% Abnormality of the teeth 90% Abnormality of the voice 90% Bone pain 90% Generalized hypopigmentation 90% Hearing impairment 90% Hyperostosis 90% Increased bone mineral density 90% Microcephaly 90% Sarcoma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Visual impairment 90% Mediastinal lymphadenopathy 50% Strabismus 50% Abnormal diaphysis morphology 7.5% Arthralgia 7.5% Arthritis 7.5% Atypical scarring of skin 7.5% Flexion contracture 7.5% Melanocytic nevus 7.5% Myalgia 7.5% Non-midline cleft lip 7.5% Palmoplantar keratoderma 7.5% Recurrent fractures 7.5% Type I diabetes mellitus 7.5% Autosomal dominant inheritance - Hoarse voice - Joint stiffness - Nevus - Osteopoikilosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Buschke Ollendorff syndrome +Is Buschke Ollendorff syndrome inherited ?,"How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.",GARD,Buschke Ollendorff syndrome +How to diagnose Buschke Ollendorff syndrome ?,"Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Buschke Ollendorff syndrome +What are the treatments for Buschke Ollendorff syndrome ?,"How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150]",GARD,Buschke Ollendorff syndrome +What are the symptoms of Dysequilibrium syndrome ?,"What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Gait disturbance 90% Hyperreflexia 90% Incoordination 90% Muscular hypotonia 90% Hemiplegia/hemiparesis 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Strabismus 50% Cataract 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad-based gait - Cerebellar atrophy - Cerebellar hypoplasia - Congenital onset - Cortical gyral simplification - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Gait ataxia - Gaze-evoked nystagmus - Hypoplasia of the brainstem - Intellectual disability - Intention tremor - Nonprogressive - Pachygyria - Pes planus - Poor speech - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dysequilibrium syndrome +What are the symptoms of Diffuse panbronchiolitis ?,"What are the signs and symptoms of Diffuse panbronchiolitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse panbronchiolitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bronchiectasis - Cough - Hypoxemia - Progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse panbronchiolitis +What is (are) Non-involuting congenital hemangioma ?,"Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).",GARD,Non-involuting congenital hemangioma +How to diagnose Non-involuting congenital hemangioma ?,"How is non-involuting congenital hemangioma diagnosed? Non-involuting congenital hemangioma (NICH) is diagnosed by taking a biopsy of the skin mark and examining the tissue under a microscope. NICH looks different under the microscope than most infantile hemangiomas because the blood vessels are arranged more irregularly. Also, the cells in an NICH do not have glucose receptors, whereas the cells of almost all hemangiomas do have glucose receptors. Finally, NICH is different from more common types of hemangiomas because NICH does not spontaneously disappear (involute). Instead, NICH remains stable over time.",GARD,Non-involuting congenital hemangioma +What are the treatments for Non-involuting congenital hemangioma ?,"How might non-involuting congenital hemangioma treated? Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an NICH and it is unlikely to regrow after surgery. Because NICH is a benign skin mark, surgery isn't necessary but can be considered to improve appearance of the skin.",GARD,Non-involuting congenital hemangioma +What are the symptoms of Pili torti onychodysplasia ?,"What are the signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sparse body hair 5% Absent eyebrow - Absent eyelashes - Alopecia - Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Congenital onychodystrophy - Hair-nail ectodermal dysplasia - Nail dystrophy - Onycholysis - Pili torti - Temporal hypotrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pili torti onychodysplasia +What is (are) Werner's syndrome ?,"Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.",GARD,Werner's syndrome +What are the symptoms of Werner's syndrome ?,"What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal hair whorl 90% Abnormality of the thorax 90% Cataract 90% Convex nasal ridge 90% Lipoatrophy 90% Pili torti 90% Prematurely aged appearance 90% Short stature 90% White forelock 90% Abnormality of retinal pigmentation 50% Abnormality of the pulmonary artery 50% Abnormality of the testis 50% Abnormality of the voice 50% Aplasia/Hypoplasia of the skin 50% Chondrocalcinosis 50% Congestive heart failure 50% Coronary artery disease 50% Decreased fertility 50% Diabetes mellitus 50% Hyperkeratosis 50% Increased bone mineral density 50% Lack of skin elasticity 50% Narrow face 50% Reduced bone mineral density 50% Rocker bottom foot 50% Short palm 50% Skeletal muscle atrophy 50% Skin ulcer 50% Telangiectasia of the skin 50% Abnormality of the cerebral vasculature 7.5% Hypertension 7.5% Laryngomalacia 7.5% Limitation of joint mobility 7.5% Meningioma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neoplasm of the oral cavity 7.5% Neoplasm of the skin 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the thyroid gland 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Secondary amenorrhea 7.5% Abnormality of the hair - Autosomal recessive inheritance - Hypogonadism - Osteoporosis - Osteosarcoma - Premature arteriosclerosis - Progeroid facial appearance - Retinal degeneration - Subcutaneous calcification - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Werner's syndrome +What is (are) Giant congenital nevus ?,"A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may experience a number of complications ranging from fragile, dry, or itchy skin to neurological problems like neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord). They also have an increased risk of developing malignant melanoma, a type of skin cancer.",GARD,Giant congenital nevus +What are the symptoms of Giant congenital nevus ?,"What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrichosis 50% Hydrocephalus 7.5% Hypopigmented skin patches 7.5% Pruritus 7.5% Sarcoma 7.5% Seizures 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Congenital giant melanocytic nevus - Cutaneous melanoma - Deep philtrum - Full cheeks - Long philtrum - Narrow nasal ridge - Open mouth - Periorbital fullness - Prominence of the premaxilla - Prominent forehead - Round face - Short nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Giant congenital nevus +What are the treatments for Giant congenital nevus ?,"How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi are removed, the surrounding skin can often be pulled together with stitches. Larger nevi may need to be removed in several stages and full-thickness skin grafts may be needed to help the skin heal following surgery. Laser treatments may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus. Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant tumors. Early awareness will allow their physicians to adjust treatment protocols accordingly. Children are most likely to show neurological signs before primary school and can respond well to a range of symptomatic therapies.",GARD,Giant congenital nevus +What is (are) Fetal and neonatal alloimmune thrombocytopenia ?,"Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother. These antibodies cross the placenta and can cause severe thrombocytopenia in the fetus. NAIT has been considered to be the platelet counterpart of Rh Hemolytic Disease of the Newborn (RHD). The incidence has been estimated at 1/800 to 1/1,000 live births. The spectrum of the disease may range from mild thrombocytopenia to life-threatening bleeding.",GARD,Fetal and neonatal alloimmune thrombocytopenia +What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ?,"How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn period involves transfusion of platelets that do not contain the specific antigens. Prompt diagnosis and treatment are essential to reduce the chances of death and disability due to severe bleeding.",GARD,Fetal and neonatal alloimmune thrombocytopenia +What is (are) Maffucci syndrome ?,"Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.",GARD,Maffucci syndrome +What are the symptoms of Maffucci syndrome ?,"What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the skin 90% Cavernous hemangioma 90% Lower limb asymmetry 90% Micromelia 90% Multiple enchondromatosis 90% Osteolysis 90% Recurrent fractures 90% Thrombophlebitis 90% Visceral angiomatosis 90% Abnormal joint morphology 50% Bone pain 50% Exostoses 50% Limitation of joint mobility 50% Scoliosis 50% Short stature 50% Abnormality of coagulation 7.5% Anemia 7.5% Cerebral palsy 7.5% Cranial nerve paralysis 7.5% Feeding difficulties in infancy 7.5% Goiter 7.5% Lymphangioma 7.5% Neoplasm of the adrenal gland 7.5% Neoplasm of the breast 7.5% Neoplasm of the nervous system 7.5% Neoplasm of the parathyroid gland 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Skin ulcer 7.5% Chondrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Maffucci syndrome +What are the treatments for Maffucci syndrome ?,How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon: An orthopedic surgeon may be consulted to evaluate bone changes and skeletal neoplasms and to help in treatment of fractures associated with the disease. Dermatologist: A dermatologist may be consulted to evaluate hemangiomas associated with the condition and to identify any new lesions on the skin.,GARD,Maffucci syndrome +What are the symptoms of Van Den Bosch syndrome ?,"What are the signs and symptoms of Van Den Bosch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Den Bosch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Choroideremia 90% Cognitive impairment 90% Hypohidrosis 90% Myopia 90% Nystagmus 90% Palmoplantar keratoderma 90% Respiratory insufficiency 90% Short stature 90% Sprengel anomaly 90% Visual impairment 90% Abnormality of the skeletal system - Acrokeratosis - Anhidrosis - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Van Den Bosch syndrome +What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the wrist 90% Depressed nasal bridge 90% Kyphosis 90% Malar flattening 90% Micromelia 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the fingernails 50% Abnormality of the larynx 50% Abnormality of the sacrum 50% Anteverted nares 50% Cognitive impairment 50% Enlarged thorax 50% Frontal bossing 50% Genu valgum 50% Macrocephaly 50% Osteoarthritis 50% Patellar aplasia 50% Short nose 50% Tracheomalacia 50% Genu varum 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Pes planus 7.5% Short neck 7.5% Autosomal dominant inheritance - Broad distal phalanx of finger - Carpal bone hypoplasia - Caudal interpedicular narrowing - Congenital hip dislocation - Delayed phalangeal epiphyseal ossification - Dislocated radial head - Flared metaphysis - Flat capital femoral epiphysis - Hypoplasia of midface - Hypoplasia of the capital femoral epiphysis - Irregular epiphyses - Irregular vertebral endplates - Joint laxity - Large joint dislocations - Long distal phalanx of finger - Long proximal phalanx of finger - Metaphyseal irregularity - Narrow femoral neck - Posterior scalloping of vertebral bodies - Slender distal phalanx of finger - Slender proximal phalanx of finger - Small epiphyses - Soft skin - Spinal dysraphism - Spondyloepimetaphyseal dysplasia - Streaky metaphyseal sclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia with multiple dislocations +What are the symptoms of Hyperlipoproteinemia type 5 ?,"What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hyperchylomicronemia - Hypoalphalipoproteinemia - Hypobetalipoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperlipoproteinemia type 5 +What is (are) Pterygium of the conjunctiva and cornea ?,"Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal of the pterygium is often not needed unless it is causing irritation or vision loss.",GARD,Pterygium of the conjunctiva and cornea +What are the symptoms of Pterygium of the conjunctiva and cornea ?,"What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 50% Abnormality of the conjunctiva - Autosomal dominant inheritance - Pterygium - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pterygium of the conjunctiva and cornea +What is (are) Behr syndrome ?,"Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient.",GARD,Behr syndrome +What are the symptoms of Behr syndrome ?,"What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes), peripheral neuropathy, dementia, and muscle contractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Behr syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision 90% Cognitive impairment 90% Hypertonia 90% Incoordination 90% Nystagmus 90% Optic atrophy 90% Strabismus 90% Visual impairment 50% Achilles tendon contracture - Adductor longus contractures - Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Gait disturbance - Hamstring contractures - Hyperreflexia - Intellectual disability - Progressive spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Behr syndrome +What causes Behr syndrome ?,"What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far.",GARD,Behr syndrome +What are the treatments for Behr syndrome ?,"How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery.",GARD,Behr syndrome +What are the symptoms of Kaufman oculocerebrofacial syndrome ?,"What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kaufman oculocerebrofacial syndrome +What is (are) Tubular aggregate myopathy ?,"Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.",GARD,Tubular aggregate myopathy +What are the symptoms of Tubular aggregate myopathy ?,"What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Tubular aggregate myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pupil 5% External ophthalmoplegia 5% Flexion contracture 5% Nyctalopia 5% Respiratory insufficiency 5% Adult onset - Areflexia of lower limbs - Autosomal dominant inheritance - Difficulty running - Easy fatigability - Elevated serum creatine phosphokinase - Exercise-induced myalgia - Frequent falls - Hyporeflexia of lower limbs - Increased variability in muscle fiber diameter - Muscle cramps - Muscle stiffness - Myopathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Type 2 muscle fiber atrophy - Weakness of the intrinsic hand muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. Are there different types of tubular aggregate myopathy? Yes. Symptoms of tubular aggregate myopathy can be be grouped into at least three different types. The first type is characterized by exercise induced cramps with or without muscle pain associated or not with weakness in the proximal muscles. The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles. The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated.",GARD,Tubular aggregate myopathy +What causes Tubular aggregate myopathy ?,"What causes tubular aggregate myopathy? Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene.",GARD,Tubular aggregate myopathy +Is Tubular aggregate myopathy inherited ?,Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. Sporadic cases of tubular aggregate myopathy have also been reported. Sporadic is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.,GARD,Tubular aggregate myopathy +What are the treatments for Tubular aggregate myopathy ?,How might tubular aggregate myopathy be treated?,GARD,Tubular aggregate myopathy +"What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ?","Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +"What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +"What causes Ehlers-Danlos syndrome, dermatosparaxis type ?","What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of ""procollagen molecules"" (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in ADAMTS2 lead to reduced levels of functional enzyme which interferes with the proper processing of procollagens. As a result, networks of collagen are not assembled properly. This weakens connective tissues and causes the many signs and symptoms associated with EDS, dermatosparaxis type.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +"Is Ehlers-Danlos syndrome, dermatosparaxis type inherited ?","Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +"How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ?","How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +"What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ?","How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hypermobility. Assistive devices such as braces, wheelchairs, or scooters may also be necessary depending on the severity of joint instability. Hernias may be treated with surgery. Because EDS, dermatosparaxis type is associated with extremely fragile skin, affected people, especially children, may need to use protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Heavy exercise and contact sports may also need to be avoided due to skin fragility and easy bruising. Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,"Ehlers-Danlos syndrome, dermatosparaxis type" +What are the symptoms of Microphthalmia syndromic 7 ?,"What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Congenital diaphragmatic hernia 90% Irregular hyperpigmentation 90% Malar flattening 90% Opacification of the corneal stroma 90% Sclerocornea 90% Abnormal facial shape 50% Abnormality of retinal pigmentation 50% Abnormality of the cardiac septa 50% Abnormality of the nose 50% Abnormality of the vitreous humor 50% Arrhythmia 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Short stature 50% Intellectual disability, progressive 24% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the gastrointestinal tract 7.5% Abnormality of the mitral valve 7.5% Abnormality of the nail 7.5% Abnormality of the testis 7.5% Abnormality of the tricuspid valve 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chorioretinal abnormality 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Female pseudohermaphroditism 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Male pseudohermaphroditism 7.5% Microcephaly 7.5% Neurological speech impairment 7.5% Posterior embryotoxon 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Seizures 7.5% Visual impairment 7.5% Abnormality of metabolism/homeostasis - Absent septum pellucidum - Agenesis of corpus callosum - Anal atresia - Anteriorly placed anus - Asymmetric, linear skin defects - Atria septal defect - Cataract - Chordee - Clitoral hypertrophy - Colpocephaly - Hypoplasia of the uterus - Hypospadias - Iris coloboma - Micropenis - Microphthalmia - Oncocytic cardiomyopathy - Overriding aorta - Ovotestis - Pigmentary retinopathy - Ventricular septal defect - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia syndromic 7 +What is (are) Growth hormone deficiency ?,"Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults. Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults. In adolescents, puberty may be delayed or absent. Treatment involves growth hormone injections.",GARD,Growth hormone deficiency +What are the symptoms of Arthrogryposis like disorder ?,"What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Arthrogryposis like disorder +What are the symptoms of Martsolf syndrome ?,"What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Cataract 90% Cognitive impairment 90% Furrowed tongue 90% Hypoplasia of the zygomatic bone 90% Low posterior hairline 90% Malar flattening 90% Microcephaly 90% Prematurely aged appearance 90% Short philtrum 90% Short stature 90% Abnormality of calvarial morphology 50% Abnormality of the distal phalanx of finger 50% Abnormality of the palate 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Cryptorchidism 50% Depressed nasal bridge 50% Hyperlordosis 50% Hypotelorism 50% Low-set, posteriorly rotated ears 50% Ulnar deviation of finger 50% Abnormality of the antihelix 7.5% Cerebral cortical atrophy 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Brachycephaly - Broad fingertip - Broad nasal tip - Cardiomyopathy - Congestive heart failure - Epicanthus - Feeding difficulties in infancy - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Micropenis - Misalignment of teeth - Pectus carinatum - Pectus excavatum - Posteriorly rotated ears - Prominent antitragus - Prominent nipples - Recurrent respiratory infections - Short metacarpal - Short palm - Short phalanx of finger - Short toe - Slender ulna - Talipes equinovarus - Talipes valgus - Tracheomalacia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Martsolf syndrome +What is (are) Spondylospinal thoracic dysostosis ?,"Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner. It does not appear to be compatible with life.",GARD,Spondylospinal thoracic dysostosis +What are the symptoms of Spondylospinal thoracic dysostosis ?,"What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the maxilla - Multiple pterygia - Pulmonary hypoplasia - Short thorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylospinal thoracic dysostosis +What are the symptoms of Nievergelt syndrome ?,"What are the signs and symptoms of Nievergelt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nievergelt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Genu valgum 90% Limitation of joint mobility 90% Micromelia 90% Radioulnar synostosis 90% Short stature 90% Tarsal synostosis 90% Abnormality of the wrist 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Dolichocephaly 7.5% Finger syndactyly 7.5% Genu varum 7.5% Large face 7.5% Sacral dimple 7.5% Scoliosis 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Autosomal dominant inheritance - Mesomelia - Mesomelic short stature - Metatarsal synostosis - Overgrowth - Radial head subluxation - Skin dimples - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nievergelt syndrome +What is (are) Mucopolysaccharidosis type IIIC ?,"Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer.",GARD,Mucopolysaccharidosis type IIIC +What are the symptoms of Mucopolysaccharidosis type IIIC ?,"What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type IIIC +What are the symptoms of Vitreoretinochoroidopathy dominant ?,"What are the signs and symptoms of Vitreoretinochoroidopathy dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Vitreoretinochoroidopathy dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Optic atrophy 50% Abnormal electroretinogram 7.5% Aplasia/Hypoplasia of the lens 7.5% Dyschromatopsia 7.5% Microphthalmia 7.5% Abnormality of chorioretinal pigmentation - Abnormality of color vision - Autosomal dominant inheritance - Glaucoma - Microcornea - Nyctalopia - Nystagmus - Pigmentary retinopathy - Pulverulent Cataract - Retinal arteriolar constriction - Retinal arteriolar occlusion - Retinal detachment - Strabismus - Vitreous hemorrhage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vitreoretinochoroidopathy dominant +What are the symptoms of Spondyloepiphyseal dysplasia ?,"What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Abnormality of the hip bone 50% Cleft palate 50% Hyperlordosis 50% Myopia 50% Osteoarthritis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepiphyseal dysplasia +What is (are) Thanatophoric dysplasia ?,"Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family. Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.",GARD,Thanatophoric dysplasia +What are the symptoms of Thanatophoric dysplasia ?,"What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the metaphyses 90% Abnormality of the sacroiliac joint 90% Aplasia/Hypoplasia of the lungs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Increased nuchal translucency 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Abnormality of neuronal migration 50% Frontal bossing 50% Hearing impairment 50% Intrauterine growth retardation 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Joint hypermobility 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thanatophoric dysplasia +What causes Thanatophoric dysplasia ?,"What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.",GARD,Thanatophoric dysplasia +Is Thanatophoric dysplasia inherited ?,"Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children, so the disorder has not been passed to the next generation.",GARD,Thanatophoric dysplasia +"What is (are) Hemolytic uremic syndrome, atypical, childhood ?","Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include viral or bacterial infections, certain medications (such as anticancer drugs), chronic diseases, cancers, and organ transplantation. Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and symptoms.",GARD,"Hemolytic uremic syndrome, atypical, childhood" +What is (are) Bednar tumor ?,"Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red and brown) appearance. The tumor may begin as a painless, slow-growing papule or patch of skin; however, accelerated growth, bleeding and/or pain are often observed as it grows. The underlying cause of Bednar tumor is unknown. There is currently no evidence of an inherited risk for the condition and most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition, the location of the tumor and the overall health of the affected person. The tumor is generally treated with surgery. In advanced cases, radiation therapy and/or systemic therapy may be recommended, as well.",GARD,Bednar tumor +What is (are) Juvenile osteoporosis ?,"Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis. There is no established medical or surgical therapy for juvenile osteoporosis. In some cases, treatment is not necessary, as the condition resolves spontaneously. Early diagnosis may allow for preventive steps, including physical therapy, avoidance of weight-bearing activities, use of crutches and other supportive care. A well-balanced diet rich in calcium and vitamin D is also important. In severe, long-lasting cases, medications such as bisphosphonates may be used. In most cases, complete recovery of bone occurs.",GARD,Juvenile osteoporosis +What are the symptoms of Juvenile osteoporosis ?,"What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Recurrent fractures 90% Reduced bone mineral density 90% Gait disturbance 50% Kyphosis 7.5% Autosomal recessive inheritance - Low serum calcitriol (1,25-dihydroxycholecalciferol) - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile osteoporosis +What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?,"Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Hydrocephalus due to congenital stenosis of aqueduct of sylvius +What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?,"What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include: Seizures Severe intellectual disability Spasticity Of note, HSAS is one form of L1 syndrome, which is an inherited condition that primarily affects the nervous system. Other forms include MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. All of the different forms of L1 syndrome may be observed in affected people within the same family. GeneReviews offers more specific information about the signs and symptoms associated with each form of L1 syndrome. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus due to congenital stenosis of aqueduct of sylvius. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aqueductal stenosis 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Increased intracranial pressure 90% Adducted thumb 50% Coarse facial features 7.5% Holoprosencephaly 7.5% Limitation of joint mobility 7.5% Nystagmus 7.5% Seizures 7.5% Strabismus 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Corticospinal tract hypoplasia - Intellectual disability - Macrocephaly - Spastic paraplegia - Spasticity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hydrocephalus due to congenital stenosis of aqueduct of sylvius +Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ?,"Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell. Although females have two X chromosomes, one of the X chromosomes in each cell is ""turned off"" and all of the genes on that chromosome are inactivated. Females who have a change (mutation) in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because the X chromosome with the mutated gene is often turned off and they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected). Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring. Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son. This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.",GARD,Hydrocephalus due to congenital stenosis of aqueduct of sylvius +How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?,"How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identification of a change (mutation) in the L1CAM gene can be used to confirm the diagnosis.",GARD,Hydrocephalus due to congenital stenosis of aqueduct of sylvius +What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?,"How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.",GARD,Hydrocephalus due to congenital stenosis of aqueduct of sylvius +"What are the symptoms of Mental retardation X-linked, South African type ?","What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Decreased body weight 90% Incoordination 90% Long face 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Seizures 90% Strabismus 90% Thick eyebrow 90% Adducted thumb 50% Aplasia/Hypoplasia of the corpus callosum 50% Autism 50% Cerebral cortical atrophy 50% Feeding difficulties in infancy 50% Gait disturbance 50% Microcephaly 50% Nystagmus 50% Ophthalmoparesis 50% Pectus excavatum 50% Ventriculomegaly 50% Deeply set eye 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Skeletal muscle atrophy 7.5% Abnormality of the foot - Absent speech - Bowel incontinence - Cerebellar atrophy - Drooling - Dysphagia - Flexion contracture - Happy demeanor - Hyperkinesis - Intellectual disability, progressive - Intellectual disability, severe - Long nose - Loss of ability to walk in first decade - Muscular hypotonia - Mutism - Narrow chest - Neuronal loss in central nervous system - Open mouth - Ophthalmoplegia - Photosensitive tonic-clonic seizures - Sleep disturbance - Slender finger - Truncal ataxia - Urinary incontinence - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mental retardation X-linked, South African type" +What is (are) Apocrine carcinoma ?,"Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body. The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size. The average age at the time of diagnosis is 62 years of age, and twice as many men are affected than women. Most apocrine carcinomas can be treated and are not fatal. Treatment of apocrine carcinoma is surgery to remove as much of the cancer as possible. Additional treatments such as radiation therapy and chemotherapy have been used to treat this condition, but the usefulness of these treatments is unproven.",GARD,Apocrine carcinoma +What is (are) Serpiginous choroiditis ?,Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.,GARD,Serpiginous choroiditis +What causes Serpiginous choroiditis ?,What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.,GARD,Serpiginous choroiditis +Is Serpiginous choroiditis inherited ?,Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.,GARD,Serpiginous choroiditis +What are the treatments for Serpiginous choroiditis ?,"Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases.",GARD,Serpiginous choroiditis +What is (are) Zellweger spectrum ?,"Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.",GARD,Zellweger spectrum +What are the symptoms of Lopes Gorlin syndrome ?,"What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lopes Gorlin syndrome +What are the symptoms of N syndrome ?,"What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,N syndrome +What are the symptoms of Encephalomyopathy ?,"What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of visual evoked potentials 90% Aminoaciduria 90% Behavioral abnormality 90% Cerebral calcification 90% Cognitive impairment 90% Decreased body weight 90% Decreased nerve conduction velocity 90% Hearing impairment 90% Hypertrichosis 90% Incoordination 90% Microcephaly 90% Ptosis 90% Seizures 90% Short stature 90% Skeletal muscle atrophy 90% Ventriculomegaly 90% Visual impairment 90% Abnormality of the basal ganglia - Athetosis - Autosomal recessive inheritance - Cerebral atrophy - Decreased activity of mitochondrial respiratory chain - Delayed gross motor development - Dystonia - Elevated serum creatine phosphokinase - Facial diplegia - Failure to thrive - Feeding difficulties in infancy - Hyporeflexia - Infantile onset - Intellectual disability, progressive - Irritability - Lactic acidosis - Loss of ability to walk in early childhood - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Ophthalmoplegia - Peripheral neuropathy - Progressive encephalopathy - Respiratory insufficiency due to muscle weakness - Sensorineural hearing impairment - Spasticity - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Encephalomyopathy +What are the symptoms of Abruzzo Erickson syndrome ?,"What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Abruzzo Erickson syndrome +What is (are) Ellis-Van Creveld syndrome ?,Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.,GARD,Ellis-Van Creveld syndrome +What are the symptoms of Ellis-Van Creveld syndrome ?,"What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ellis-Van Creveld syndrome +What is (are) Congenital short femur ?,"Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients. However surgical lengthening of the femur remains a challenging procedure with risks for complications.",GARD,Congenital short femur +What is (are) Hypertrichosis lanuginosa congenita ?,"Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follow an autosomal dominant pattern of inheritance.",GARD,Hypertrichosis lanuginosa congenita +What are the symptoms of Hypertrichosis lanuginosa congenita ?,"What are the signs and symptoms of Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital, generalized hypertrichosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Thick eyebrow 90% Abnormality of skin pigmentation 50% Gingival overgrowth 7.5% Autosomal dominant inheritance - Double eyebrow - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypertrichosis lanuginosa congenita +What is (are) Cowden syndrome ?,"Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries.",GARD,Cowden syndrome +What are the symptoms of Cowden syndrome ?,"What are the signs and symptoms of Cowden syndrome? Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. Approximately 99% of people affected by Cowden syndrome will have benign growths on the skin and/or in the mouth by the third decade of life. A majority of affected people will also develop growths (called hamartomatous polyps) along the inner lining of the gastrointestinal tract. People affected by Cowden syndrome also have an increased risk of developing certain types of cancer. Breast, thyroid and endometrial (the lining of the uterus) cancers are among the most commonly reported tumors. Other associated cancers include colorectal cancer, kidney cancer and melanoma. People with Cowden syndrome often develop cancers at earlier ages (before age 50) than people without a hereditary predisposition to cancer. Other signs and symptoms of Cowden syndrome may include benign diseases of the breast, thyroid, and endometrium; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; an enlarged head (macrocephaly); autism spectrum disorder; intellectual disability; and vascular (the body's network of blood vessels) abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Cowden syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pupil 90% Abnormality of the tongue 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Cognitive impairment 90% Conjunctival hamartoma 90% Dental malocclusion 90% Epibulbar dermoid 90% Exostoses 90% Foot polydactyly 90% Genu recurvatum 90% Incoordination 90% Increased intracranial pressure 90% Intestinal polyposis 90% Irregular hyperpigmentation 90% Lower limb asymmetry 90% Macrocephaly 90% Melanocytic nevus 90% Migraine 90% Myopia 90% Nausea and vomiting 90% Neoplasm of the breast 90% Neoplasm of the nervous system 90% Neoplasm of the thyroid gland 90% Seizures 90% Uterine neoplasm 90% Verrucae 90% Abnormality of the parathyroid gland 50% Abnormality of the penis 50% Abnormality of the teeth 50% Anemia 50% Cataract 50% Cavernous hemangioma 50% Communicating hydrocephalus 50% Dolichocephaly 50% Furrowed tongue 50% Gastrointestinal hemorrhage 50% Gingival overgrowth 50% Goiter 50% Heterochromia iridis 50% Hypermelanotic macule 50% Hyperostosis 50% Hypertrichosis 50% Mandibular prognathia 50% Meningioma 50% Mucosal telangiectasiae 50% Multiple lipomas 50% Palmoplantar keratoderma 50% Retinal detachment 50% Shagreen patch 50% Venous insufficiency 50% Intellectual disability 12% Intellectual disability, mild 12% Abnormality of neuronal migration 7.5% Abnormality of the palate 7.5% Abnormality of the retinal vasculature 7.5% Adenoma sebaceum 7.5% Anteverted nares 7.5% Autism 7.5% Bone cyst 7.5% Brachydactyly syndrome 7.5% Bronchogenic cyst 7.5% Cafe-au-lait spot 7.5% Gynecomastia 7.5% Hearing impairment 7.5% Hypopigmented skin patches 7.5% Kyphosis 7.5% Melanoma 7.5% Ovarian neoplasm 7.5% Pectus excavatum 7.5% Polycystic ovaries 7.5% Renal neoplasm 7.5% Scoliosis 7.5% Short stature 7.5% Skeletal dysplasia 7.5% Splenomegaly 7.5% Tall stature 7.5% Thymus hyperplasia 7.5% Abnormality of the cardiovascular system - Adult onset - Angioid streaks of the retina - Autosomal dominant inheritance - Breast carcinoma - Colonic diverticula - Fibroadenoma of the breast - Hamartomatous polyposis - High palate - Hydrocele testis - Hyperthyroidism - Hypoplasia of the maxilla - Hypothyroidism - Intention tremor - Narrow mouth - Ovarian cyst - Palmoplantar hyperkeratosis - Progressive macrocephaly - Skin tags - Subcutaneous lipoma - Thyroid adenoma - Thyroiditis - Transitional cell carcinoma of the bladder - Varicocele - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cowden syndrome +What causes Cowden syndrome ?,"What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.",GARD,Cowden syndrome +Is Cowden syndrome inherited ?,"How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Cowden syndrome +How to diagnose Cowden syndrome ?,"How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cause Cowden syndrome can be considered. GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria. Click here to view this resource. The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome. Is genetic testing available for Cowden syndrome? Yes, genetic testing is available for many of the genes known to cause Cowden syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Cowden syndrome +What are the treatments for Cowden syndrome ?,"How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here.",GARD,Cowden syndrome +What is (are) Blue cone monochromatism ?,"Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.",GARD,Blue cone monochromatism +What are the symptoms of Blue cone monochromatism ?,"What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Blue cone monochromatism +What is (are) Hairy cell leukemia ?,"Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years.",GARD,Hairy cell leukemia +What are the symptoms of Preaxial polydactyly type 1 ?,"What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Preaxial polydactyly type 1 +What is (are) Barrett esophagus ?,"Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.",GARD,Barrett esophagus +What are the symptoms of Barrett esophagus ?,"What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). GERD may be associated with symptoms such as frequent heartburn, difficulty swallowing food, and/or chest pain (less commonly). People with Barrett esophagus do have a greater risk than the general population of developing esophageal cancer. However, the overall risk is still low as less than 0.5 percent of people with Barrett esophagus develop cancer of the esophagus each year. The Human Phenotype Ontology provides the following list of signs and symptoms for Barrett esophagus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdominal organs 90% Neoplasm 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Barrett esophagus +What causes Barrett esophagus ?,"What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may decrease the risk include having a Helicobacter pylori (H. pylori) infection; frequent use of aspirin or other nonsteroidal anti-inflammatory drugs; and a diet high in fruits, vegetables, and certain vitamins.",GARD,Barrett esophagus +Is Barrett esophagus inherited ?,"Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings.",GARD,Barrett esophagus +How to diagnose Barrett esophagus ?,"How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.",GARD,Barrett esophagus +What are the treatments for Barrett esophagus ?,"How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances. Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[ Endoscopic resection - an endoscope is used to remove damaged cells Endoscopic ablative therapies - different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue. Surgery - the damaged part of the esophagus is removed and the remaining portion is attached to the stomach The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource.",GARD,Barrett esophagus +What is (are) Non-A-E hepatitis ?,"Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. Non-A-E hepatitis usually goes away on its own, but it can become a chronic condition in a small proportion (12%) of affected individuals. The cause of non-A-E hepatitis is currently unknown.",GARD,Non-A-E hepatitis +What are the symptoms of Negative rheumatoid factor polyarthritis ?,"What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmune antibody positivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Negative rheumatoid factor polyarthritis +What is (are) Menkes disease ?,"Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.",GARD,Menkes disease +What are the symptoms of Menkes disease ?,"What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Menkes disease +What are the symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation ?,"What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Autosomal recessive inheritance - Hearing impairment - Intellectual disability - Rod-cone dystrophy - Spastic tetraplegia - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic quadriplegia retinitis pigmentosa mental retardation +What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ?,"What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Decreased CSF homovanillic acid (HVA) - Encephalopathy - Failure to thrive - Feeding difficulties in infancy - Hypoglycemia - Increased serum lactate - Metabolic acidosis - Muscular hypotonia of the trunk - Myoclonus - Premature birth - Progressive microcephaly - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyridoxal 5'-phosphate-dependent epilepsy +What is (are) Complete androgen insensitivity syndrome ?,"Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.",GARD,Complete androgen insensitivity syndrome +What are the symptoms of Complete androgen insensitivity syndrome ?,"What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Primary amenorrhea 90% Tall stature 90% Hernia of the abdominal wall 50% Reduced bone mineral density 50% Flexion contracture 7.5% Gynecomastia 7.5% Testicular neoplasm 7.5% Tremor 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Complete androgen insensitivity syndrome +"What are the symptoms of Hypocalcemia, autosomal dominant ?","What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% EMG abnormality 90% Flexion contracture 90% Hypercalciuria 90% Hypocalcemia 90% Involuntary movements 90% Paresthesia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of the fingernails 50% Alopecia 50% Arrhythmia 50% Dry skin 50% Hyperphosphatemia 50% Hypotension 50% Nephrolithiasis 50% Congestive heart failure 7.5% Eczema 7.5% Increased intracranial pressure 7.5% Irregular hyperpigmentation 7.5% Optic atrophy 7.5% Reduced bone mineral density 7.5% Reduced consciousness/confusion 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hypocalcemia, autosomal dominant" +What is (are) Isolated ectopia lentis ?,"Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by mutations in either the FBN1 or ADAMTSL4 gene. When caused by a mutation in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a mutation in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner. The primary goal of treatment is preventing amblyopia (lazy eye) through early correction of astigmatism. Surgical intervention including lensectomy (removal of the lens) may be considered in cases where vision is significantly affected.",GARD,Isolated ectopia lentis +What are the symptoms of Isolated ectopia lentis ?,"What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Ectopia lentis 90% Flat cornea 90% Astigmatism 50% Glaucoma 50% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the lens 7.5% Disproportionate tall stature 7.5% Hypermetropia 7.5% Lens coloboma 7.5% Limitation of joint mobility 7.5% Retinal detachment 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isolated ectopia lentis +What is (are) Hypolipoproteinemia ?,"Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.",GARD,Hypolipoproteinemia +What are the symptoms of Hypolipoproteinemia ?,Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.,GARD,Hypolipoproteinemia +What causes Hypolipoproteinemia ?,"What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease. Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition. In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others have developed fatty liver, intestinal fat malabsorption, and neurological problems. Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood. Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment. Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to: Lecithin acyltransferase deficiency Tangier Disease",GARD,Hypolipoproteinemia +What is (are) Cronkhite-Canada disease ?,"Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.",GARD,Cronkhite-Canada disease +What are the symptoms of Cronkhite-Canada disease ?,"What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of nail color 90% Abnormality of the fingernails 90% Alopecia 90% Generalized hyperpigmentation 90% Hypoplastic toenails 90% Intestinal polyposis 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the stomach 90% Abdominal pain 50% Anemia 50% Anorexia 50% Aplasia/Hypoplasia of the eyebrow 50% Autoimmunity 50% Gastrointestinal hemorrhage 50% Hypopigmented skin patches 50% Lymphedema 50% Neoplasm of the small intestine 50% Abnormality of the sense of smell 7.5% Cataract 7.5% Congestive heart failure 7.5% Decreased body weight 7.5% Feeding difficulties in infancy 7.5% Furrowed tongue 7.5% Glomerulopathy 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypothyroidism 7.5% Macrocephaly 7.5% Paresthesia 7.5% Seizures 7.5% Splenomegaly 7.5% Tapered finger 7.5% Cachexia - Clubbing - Clubbing of fingers - Diarrhea - Gastrointestinal carcinoma - Glossitis - Hamartomatous polyposis - Hematochezia - Hyperpigmentation of the skin - Hypocalcemia - Hypokalemia - Hypomagnesemia - Muscle weakness - Nail dysplasia - Nail dystrophy - Protein-losing enteropathy - Sporadic - Thromboembolism - Vomiting - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cronkhite-Canada disease +What is (are) Acute febrile neutrophilic dermatosis ?,"Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.",GARD,Acute febrile neutrophilic dermatosis +What are the symptoms of Acute febrile neutrophilic dermatosis ?,"What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often after a fever or upper respiratory infection. The bumps grow quickly in size, spreading into clusters called plaques that may be a centimeter in diameter or larger. The eruptions are tender or painful and may develop blisters, pustules or even ulcers. Lesions may persist for weeks to months and then disappear on their own, without medication. With medical treatment, the skin lesions may resolve in just a few days. Other signs and symptoms of acute febrile neutrophilic dermatosis may include: Moderate to high fever Pink eye (conjunctivitis) or sore eyes Tiredness Aching joints and headache Mouth ulcers The Human Phenotype Ontology provides the following list of signs and symptoms for Acute febrile neutrophilic dermatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthralgia 90% Hypermelanotic macule 90% Leukocytosis 90% Migraine 90% Myalgia 90% Skin rash 90% Skin ulcer 90% Splenomegaly 90% Hyperkeratosis 50% Abnormal blistering of the skin 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Pustule 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Thrombocytopenia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acute febrile neutrophilic dermatosis +What causes Acute febrile neutrophilic dermatosis ?,"What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)",GARD,Acute febrile neutrophilic dermatosis +What are the treatments for Acute febrile neutrophilic dermatosis ?,"How might acute febrile neutrophilic dermatosis be treated? Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usually prescribe systemic corticosteroids (prednisone or prednisolone) to treat this condition. These oral anti-inflammatory medications reduce redness, itching, swelling and allergic reactions. In the pediatric population, long-term use of corticosteroids can cause problems with linear growth, blood pressure, and blood glucose levels. Children may also have social sequelae associated with their use. Therefore, attempts are usually made to treat children with steroid-sparing drugs. Other treatment options include indomethacin, colchicine, potassium iodide, dapsone, cyclosporine, etretinate, pentoxifylline, clofazimine, doxycycline, metronidazole, isotretinoin, methotrexate, cyclophosphamide, chlorambucil, and interferon alpha, all of which have shown some success in the resolution of symtpoms. With or without treatment, the lesions rarely leave a mark or scar when they eventually disappear. Even after the lesions have resolved, treatment may continue, as recurrence of the condition is common. If an underlying cause can be identified, it should be treated (i.e. resection of solid tumors, treatment of infections, and discontinuation of causative medication). Successful therapy of the underlying disorder may promote resolution of acute febrile neutrophilic dermatosis and prevent recurrences.",GARD,Acute febrile neutrophilic dermatosis +What is (are) Hemochromatosis type 4 ?,Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about these types click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis,GARD,Hemochromatosis type 4 +What are the symptoms of Hemochromatosis type 4 ?,"What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of iron homeostasis 90% Arthralgia 90% Generalized hyperpigmentation 90% Joint swelling 90% Limitation of joint mobility 90% Abdominal pain 50% Hepatic steatosis 50% Cirrhosis 7.5% Congenital hepatic fibrosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemochromatosis type 4 +What is (are) Blount disease ?,"Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. Treatment may involve bracing and/or surgery. Other causes for Blount disease in young children includes metabolic disease and rickets. Blount disease in teens typically occurs in youth who are overweight. In teens surgery is often required to correct the problem.",GARD,Blount disease +What are the symptoms of Blount disease ?,"What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the proximal tibial epiphysis - Autosomal dominant inheritance - Genu varum - Osteochondrosis dissecans - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Blount disease +What is (are) Wiedemann-Steiner syndrome ?,"Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.",GARD,Wiedemann-Steiner syndrome +What are the symptoms of Wiedemann-Steiner syndrome ?,"What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wiedemann-Steiner syndrome +What is (are) Syndrome of inappropriate antidiuretic hormone ?,"Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the use of certain medications. Disorders of the lungs and certain cancers may increase the risk of developing SIADH. Treatment includes fluid restriction and sometimes the use of medications that decrease the effect of antidiuretic hormone on the kidneys.",GARD,Syndrome of inappropriate antidiuretic hormone +What are the symptoms of Syndrome of inappropriate antidiuretic hormone ?,"What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, stupor, coma, and death. The Human Phenotype Ontology provides the following list of signs and symptoms for Syndrome of inappropriate antidiuretic hormone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased circulating renin level - Elevated systolic blood pressure - Hypernatriuria - Hyponatremia - Irritability - Seizures - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syndrome of inappropriate antidiuretic hormone +What causes Syndrome of inappropriate antidiuretic hormone ?,"What causes syndrome of inappropriate antidiuretic hormone? Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer, pancreatic cancer, thymoma, ovarian cancer, lymphoma, pneumonia, chronic obstructive pulmonary disease, lung abscess, tuberculosis, cystic fibrosis, surgery, and drugs. SIADH has also been reported in association with AIDS, temporal arteritis, polyarteritis nodosa, sarcoidosis, Rocky Mountain spotted fever, carcinoma of the cervix, olfactory neuroblastoma, and herpes zoster infection of the chest wall. Often the underlying cause of the condition can not be determined. In these cases the condition is said to be idiopathic.",GARD,Syndrome of inappropriate antidiuretic hormone +What are the treatments for Syndrome of inappropriate antidiuretic hormone ?,"How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.",GARD,Syndrome of inappropriate antidiuretic hormone +What are the symptoms of Amelogenesis imperfecta local hypoplastic ?,"What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Taurodontia 5% Amelogenesis imperfecta - Autosomal dominant inheritance - Generalized microdontia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amelogenesis imperfecta local hypoplastic +What are the symptoms of Maple syrup urine disease type 1A ?,"What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Maple syrup urine disease type 1A +What are the symptoms of Focal palmoplantar and gingival keratoderma ?,"What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Gingival overgrowth 90% Palmoplantar keratoderma 90% Hyperhidrosis 50% Autosomal dominant inheritance - Circumungual hyperkeratosis - Focal friction-related palmoplantar hyperkeratosis - Gingival hyperkeratosis - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Focal palmoplantar and gingival keratoderma +What is (are) Gray zone lymphoma ?,"Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a ""gray zone"" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Because features of gray zone lymphoma overlap with these two other types of lymphoma, diagnosing this condition can be difficult. Gray zone lymphoma is most often diagnosed in young adults when an unusual lump (mass) is found in the chest in the space between the lungs (mediastinum). This condition affects men and women equally.",GARD,Gray zone lymphoma +What are the treatments for Gray zone lymphoma ?,"How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis. Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases.",GARD,Gray zone lymphoma +What is (are) Neuroacanthocytosis ?,"Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the ""core"" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).",GARD,Neuroacanthocytosis +What are the treatments for Neuroacanthocytosis ?,"How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.",GARD,Neuroacanthocytosis +What are the symptoms of 8p23.1 duplication syndrome ?,"What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 50% Highly arched eyebrow 50% Neurological speech impairment 50% Abnormality of the nose 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the upper urinary tract 7.5% Deeply set eye 7.5% Exostoses 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Long philtrum 7.5% Primary adrenal insufficiency 7.5% Tetralogy of Fallot 7.5% Thick lower lip vermilion 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,8p23.1 duplication syndrome +What is (are) Churg Strauss syndrome ?,"Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies.",GARD,Churg Strauss syndrome +What are the symptoms of Churg Strauss syndrome ?,"What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body - especially the lungs, gastrointestinal tract and skin. The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm). People with CSS often develop nonspecific symptoms including fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. Neurological symptoms (such as pain, tingling or numbness) are common and depend on the specific nerves involved. About half of affected people develop skin abnormalities due to accumulation of eosinophils in skin tissue. Symptoms of skin involvement may include purplish skin lesions, a rash with hives, and/or small bumps, especially on the elbows. Gastrointestinal involvement may cause various symptoms also. Heart problems may include inflammation of heart tissues and in severe cases, heart failure. The kidneys can also become involved, eventually causing glomerulonephritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Churg Strauss syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eosinophils 90% Asthma 90% Autoimmunity 90% Congestive heart failure 90% Polyneuropathy 90% Pulmonary infiltrates 90% Sinusitis 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Weight loss 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hematuria 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Nausea and vomiting 50% Skin rash 50% Thrombophlebitis 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Acrocyanosis 7.5% Arthritis 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Cutis marmorata 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hemoptysis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Myalgia 7.5% Myositis 7.5% Nasal polyposis 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Churg Strauss syndrome +What are the symptoms of Bone dysplasia lethal Holmgren type ?,"What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bone dysplasia lethal Holmgren type +What is (are) Hemochromatosis type 1 ?,"Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis",GARD,Hemochromatosis type 1 +What are the symptoms of Hemochromatosis type 1 ?,"What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemochromatosis type 1 +What are the treatments for Hemochromatosis type 1 ?,"How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. Phlebotomy aids in ridding the body of excess iron and maintaining normal iron stores. Most people begin treatment with weekly therapeutic phlebotomy of 500 mL whole blood-although sometimes treatment is initially twice a week. Maintenance phlebotomy usually involves treatment every 2-3 weeks in which 1 unit of blood is removed. For more detailed information regarding the treatment of hemochromatosis, please reference Medscape at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/177216-treatment",GARD,Hemochromatosis type 1 +What are the symptoms of Leber congenital amaurosis 5 ?,"What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hypermetropia - Nystagmus - Undetectable electroretinogram - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 5 +What is (are) Children's interstitial lung disease ?,"Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs. Early diagnosis and treatment is important for any type of chILD. See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.",GARD,Children's interstitial lung disease +What are the treatments for Children's interstitial lung disease ?,"How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment.",GARD,Children's interstitial lung disease +What are the symptoms of Spranger Schinzel Myers syndrome ?,"What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ablepharon - Absent eyelashes - Agenesis of corpus callosum - Autosomal recessive inheritance - Bifid uterus - Calcaneovalgus deformity - Camptodactyly - Cataract - Cerebellar hypoplasia - Choroid plexus cyst - Cleft palate - Cleft upper lip - Clinodactyly - Cryptorchidism - Dandy-Walker malformation - Decreased fetal movement - Finger syndactyly - Generalized edema - Hydranencephaly - Hypertelorism - Intrauterine growth retardation - Joint contracture of the hand - Lissencephaly - Macrotia - Microcephaly - Micromelia - Microphthalmia - Patent ductus arteriosus - Patent foramen ovale - Polyhydramnios - Proptosis - Pterygium - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Rocker bottom foot - Short neck - Short umbilical cord - Sloping forehead - Small placenta - Spina bifida - Stillbirth - Thick lower lip vermilion - Toe syndactyly - Transposition of the great arteries - Ventricular septal defect - Yellow subcutaneous tissue covered by thin, scaly skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spranger Schinzel Myers syndrome +What is (are) Human T-cell leukemia virus type 2 ?,"Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life.",GARD,Human T-cell leukemia virus type 2 +What are the symptoms of Human T-cell leukemia virus type 2 ?,"What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological problems such as:[7046] Sensory neuropathies (conditions that affect the nerves that provide feeling) Gait abnormalities Bladder dysfunction Mild cognitive impairment Motor abnormalities (loss of or limited muscle control or movement, or limited mobility) Erectile dysfunction Although evidence is limited, there may also be a link between HTLV-2 and chronic lung infections (i.e. pneumonia and bronchitis), arthritis, asthma, and dermatitis.",GARD,Human T-cell leukemia virus type 2 +What causes Human T-cell leukemia virus type 2 ?,"What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-2 may develop neurological problems and other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.",GARD,Human T-cell leukemia virus type 2 +How to diagnose Human T-cell leukemia virus type 2 ?,"How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.",GARD,Human T-cell leukemia virus type 2 +What are the treatments for Human T-cell leukemia virus type 2 ?,"How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.",GARD,Human T-cell leukemia virus type 2 +What is (are) Parsonage Turner syndrome ?,"Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.",GARD,Parsonage Turner syndrome +What are the symptoms of Parsonage Turner syndrome ?,"What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well.",GARD,Parsonage Turner syndrome +What causes Parsonage Turner syndrome ?,"What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).",GARD,Parsonage Turner syndrome +Is Parsonage Turner syndrome inherited ?,"Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here.",GARD,Parsonage Turner syndrome +How to diagnose Parsonage Turner syndrome ?,"How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray.",GARD,Parsonage Turner syndrome +What are the treatments for Parsonage Turner syndrome ?,"How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.",GARD,Parsonage Turner syndrome +What is (are) Graves' disease ?,"Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and may affect males as well. Treatment may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.",GARD,Graves' disease +What are the symptoms of Graves' disease ?,"What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Graves' disease +What are the symptoms of Osteopenia and sparse hair ?,"What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopenia and sparse hair +What are the symptoms of Charlie M syndrome ?,"What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Brachydactyly syndrome 90% Finger syndactyly 90% Hypertelorism 90% Narrow mouth 90% Non-midline cleft lip 90% Reduced number of teeth 90% Split hand 90% Thin vermilion border 90% Abnormality of the metacarpal bones 50% Abnormality of the nose 50% Short philtrum 50% Macrotia 7.5% Triphalangeal thumb 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charlie M syndrome +What are the symptoms of Chromosome 8p23.1 deletion ?,"What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 8p23.1 deletion +What is (are) Polymicrogyria ?,"Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person.",GARD,Polymicrogyria +What is (are) Agenesis of the dorsal pancreas ?,"Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals. The cause of agenesis of the dorsal pancreas is currently not well understood. It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested. It has also been reported to occur with very rare conditions including polysplenia and polysplenia/heterotaxy syndrome.",GARD,Agenesis of the dorsal pancreas +What are the symptoms of Agenesis of the dorsal pancreas ?,"What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Intrauterine growth retardation 90% Maternal diabetes 90% Type I diabetes mellitus 90% Autosomal dominant inheritance - Diabetes mellitus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Agenesis of the dorsal pancreas +What causes Agenesis of the dorsal pancreas ?,"What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this. There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.",GARD,Agenesis of the dorsal pancreas +What are the treatments for Agenesis of the dorsal pancreas ?,"How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed. For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a blood transfusion. In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas. Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications. Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only.",GARD,Agenesis of the dorsal pancreas +What is (are) Pseudoachondroplasia ?,"Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.",GARD,Pseudoachondroplasia +What are the symptoms of Pseudoachondroplasia ?,"What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Micromelia 90% Arthralgia 50% Gait disturbance 50% Hyperlordosis 50% Joint hypermobility 50% Limitation of joint mobility 50% Osteoarthritis 50% Platyspondyly 50% Scoliosis 50% Short toe 50% Genu valgum 7.5% Genu varum 7.5% Hypoplasia of the odontoid process 7.5% Kyphosis 7.5% Atlantoaxial dislocation - Autosomal dominant inheritance - Beaking of vertebral bodies - Carpal bone hypoplasia - Cervical cord compression - Childhood onset short-limb short stature - Degenerative joint disease - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Flared femoral metaphysis - Fragmented epiphyses - Fragmented, irregular epiphyses - Genu recurvatum - Irregular carpal bones - Joint laxity - Ligamentous laxity - Limited elbow extension - Limited hip extension - Lumbar hyperlordosis - Radial metaphyseal irregularity - Sensory neuropathy - Short distal phalanx of finger - Short long bone - Short metacarpal - Small epiphyses of the phalanges of the hand - Spatulate ribs - Ulnar deviation of the hand - Ulnar deviation of the wrist - Ulnar metaphyseal irregularity - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. What are the features of pseudoachondroplasia? All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.",GARD,Pseudoachondroplasia +Is Pseudoachondroplasia inherited ?,"How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,Pseudoachondroplasia +What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ?,"What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mandibuloacral dysplasia with type A lipodystrophy +What is (are) Complement component 2 deficiency ?,Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.,GARD,Complement component 2 deficiency +What are the symptoms of Complement component 2 deficiency ?,"What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Purpura - Systemic lupus erythematosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Complement component 2 deficiency +What is (are) CREST syndrome ?,"CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease. (C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result. (R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene. (E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation. (S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss. (T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems. It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease. Some doctors believe only two of the five are necessary for a diagnosis.",GARD,CREST syndrome +What are the symptoms of CREST syndrome ?,"What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CREST syndrome +What causes CREST syndrome ?,"What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.",GARD,CREST syndrome +How to diagnose CREST syndrome ?,"How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupus and rheumatoid arthritis. A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either. Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.",GARD,CREST syndrome +What are the symptoms of NADH cytochrome B5 reductase deficiency ?,"What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,NADH cytochrome B5 reductase deficiency +What is (are) Glucose-6-phosphate dehydrogenase deficiency ?,"Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. Treatment may involve medicines to treat an infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.",GARD,Glucose-6-phosphate dehydrogenase deficiency +What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ?,"What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.",GARD,Glucose-6-phosphate dehydrogenase deficiency +What causes Glucose-6-phosphate dehydrogenase deficiency ?,"What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.",GARD,Glucose-6-phosphate dehydrogenase deficiency +Is Glucose-6-phosphate dehydrogenase deficiency inherited ?,"How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons.",GARD,Glucose-6-phosphate dehydrogenase deficiency +What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ?,"How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.",GARD,Glucose-6-phosphate dehydrogenase deficiency +What are the symptoms of Amish lethal microcephaly ?,"What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive microcephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amish lethal microcephaly +What are the symptoms of Paine syndrome ?,"What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paine syndrome +What are the symptoms of Thumb stiff brachydactyly mental retardation ?,"What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the thumb 90% Cognitive impairment 90% Limitation of joint mobility 90% Obesity 50% Autosomal dominant inheritance - Intellectual disability - Type A1 brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thumb stiff brachydactyly mental retardation +What is (are) Acanthoma ?,"An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including ""acantholytic"", ""epidermolytic"", ""clear cell"", and ""melanoacanthoma"". Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation. Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms.",GARD,Acanthoma +What are the treatments for Acanthoma ?,"How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For example, a single acanthoma may be removed by surgery, whereas multiple acanthomas may be treated with cryosurgery or the use of the medication fluorouracil cream.",GARD,Acanthoma +What is (are) Baller-Gerold syndrome ?,"Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders. Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms.",GARD,Baller-Gerold syndrome +What are the symptoms of Baller-Gerold syndrome ?,"What are the signs and symptoms of Baller-Gerold syndrome? Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma. The Human Phenotype Ontology provides the following list of signs and symptoms for Baller-Gerold syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the thumb 90% Frontal bossing 90% Proptosis 90% Short stature 90% Split hand 90% Aplasia/Hypoplasia involving the nose 50% Bowing of the long bones 50% Ectopic anus 50% Intrauterine growth retardation 50% Malabsorption 50% Narrow mouth 50% Patellar aplasia 50% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Broad forehead 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Epicanthus 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Lymphoma 7.5% Narrow face 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Nystagmus 7.5% Poikiloderma 7.5% Prominent nasal bridge 7.5% Scoliosis 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the vertebrae - Absent radius - Agenesis of corpus callosum - Anal atresia - Anomalous splenoportal venous system - Anteriorly placed anus - Aphalangy of the hands - Aplasia of metacarpal bones - Autosomal recessive inheritance - Bicoronal synostosis - Bifid uvula - Brachyturricephaly - Carpal bone aplasia - Carpal synostosis - Choanal stenosis - Coronal craniosynostosis - Flat forehead - High palate - Hydrocephalus - Hypoplasia of the radius - Hypoplasia of the ulna - Intellectual disability - Lambdoidal craniosynostosis - Limited elbow movement - Limited shoulder movement - Low-set, posteriorly rotated ears - Midface capillary hemangioma - Myopia - Optic atrophy - Patellar hypoplasia - Perineal fistula - Polymicrogyria - Rectovaginal fistula - Rib fusion - Sagittal craniosynostosis - Seizures - Short humerus - Spina bifida occulta - Strabismus - Ulnar bowing - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Baller-Gerold syndrome +What are the symptoms of Saccharopinuria ?,"What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Saccharopinuria +What is (are) Frontal fibrosing alopecia ?,"Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested that FFA may be due to hormonal changes or an autoimmune response, the exact cause of this condition is not yet known. There is currently no cure for FFA; however, treatment with certain types of medications may stop or slow hair loss in some cases.",GARD,Frontal fibrosing alopecia +What are the symptoms of Frontal fibrosing alopecia ?,"What are the signs and symptoms of frontal fibrosing alopecia? Frontal fibrosing alopecia (FFA) is characterized primarily by hair loss (alopecia) and scarring on the scalp near the forehead. The band of hair loss on the front and sides of the scalp is usually symmetrical and slowly progressive (worsening over time). The skin in the affected area often looks normal but may be pale, shiny or mildly scarred. Approximately half of all affected people experience loss of eyebrows, as well. Less commonly, the eyelashes may also be involved. Some people with FFA develop hair loss in areas other than the scalp and face. In some cases, women with FFA also have female pattern hair loss, which is associated with thinning of hair on the scalp due to increased hair shedding and/or a reduction in hair volume.",GARD,Frontal fibrosing alopecia +What causes Frontal fibrosing alopecia ?,What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). Scientists also suspect that there may be a hormonal component since the condition most commonly affects post-menopausal women over age 50.,GARD,Frontal fibrosing alopecia +Is Frontal fibrosing alopecia inherited ?,Is frontal fibrosing alopecia inherited? Frontal fibrosing alopecia is not thought to be inherited in most cases. It rarely affects more than one person in a family.,GARD,Frontal fibrosing alopecia +How to diagnose Frontal fibrosing alopecia ?,"How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out other conditions that cause similar features.",GARD,Frontal fibrosing alopecia +What are the treatments for Frontal fibrosing alopecia ?,"How might frontal fibrosing alopecia be treated? Unfortunately, there is currently no cure for frontal fibrosing alopecia (FFA). Because the hair loss associated with this condition is thought to be caused by inflammation of hair follicles, treatment often involves using anti-inflammatory medications or ointments, such as corticosteroids or hydroxychloroquine (brand name Plaquenil), to reduce inflammation and suppress the body's immune system. Medications that block the production of the male hormone 5-alpha reductase have been reported to stop further hair loss in some women. Researchers continue to question whether treatment is effective or if hair loss in FFA just stops naturally.",GARD,Frontal fibrosing alopecia +What are the symptoms of Nephrotic syndrome ocular anomalies ?,"What are the signs and symptoms of Nephrotic syndrome ocular anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome ocular anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nephrotic syndrome ocular anomalies +What is (are) Succinic semialdehyde dehydrogenase deficiency ?,Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.,GARD,Succinic semialdehyde dehydrogenase deficiency +What are the symptoms of Succinic semialdehyde dehydrogenase deficiency ?,"What are the signs and symptoms of Succinic semialdehyde dehydrogenase deficiency? People with succinic semialdehyde dehydrogenase deficiency (SSADH) typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes, and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of SSADH include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia. The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic semialdehyde dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Seizures 50% Abnormality of eye movement - Abnormality of metabolism/homeostasis - Absence seizures - Aggressive behavior - Anxiety - Ataxia - Autism - Autosomal recessive inheritance - Delayed speech and language development - EEG abnormality - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hallucinations - Hyperactivity - Hyperkinesis - Hyporeflexia - Infantile onset - Intellectual disability - Motor delay - Phenotypic variability - Psychosis - Self-injurious behavior - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Succinic semialdehyde dehydrogenase deficiency +What causes Succinic semialdehyde dehydrogenase deficiency ?,"What causes succinic semialdehyde dehydrogenase deficiency? Succinic semialdehyde dehydrogenase deficiency (SSADH) is caused by mutations in the ALDH5A1 gene. This gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme which is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.",GARD,Succinic semialdehyde dehydrogenase deficiency +Is Succinic semialdehyde dehydrogenase deficiency inherited ?,"How is succinic semialdehyde dehydrogenase deficiency inherited? Succinic semialdehyde dehydrogenase deficiency (SSADH) is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Succinic semialdehyde dehydrogenase deficiency +How to diagnose Succinic semialdehyde dehydrogenase deficiency ?,"How is succinic semialdehyde dehydrogenase deficiency diagnosed? The diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency is based upon a thorough clinical exam, the identification of features consistent with the condition, and a variety of specialized tests. SSADH deficiency may first be suspected in late infancy or early childhood in individuals who have encephalopathy, a state in which brain function or structure is altered. The encephalopathy may be characterized by cognitive impairment; language deficit; poor muscle tone (hypotonia); seizures; decreased reflexes (hyporeflexia); and/or difficulty coordinating movements (ataxia). The diagnosis may be further suspected if urine organic acid analysis (a test that provides information about the substances the body discards through the urine) shows the presence of 4-hydroxybutyric acid. The diagnosis can be confirmed by an enzyme test showing deficiency of SSADH, or by genetic testing. ALDH5A1 is the only gene currently known to be associated with SSADH deficiency, and genetic testing can detect mutations in about 97% of affected individuals.",GARD,Succinic semialdehyde dehydrogenase deficiency +What are the treatments for Succinic semialdehyde dehydrogenase deficiency ?,"How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating the seizures associated with this condition include carbamazepine and lamotrigine (LTG). Medications such as methylphenidate, thioridazine, risperidal, fluoxetine, and benzodiazepines appear to be effective at treating anxiety, aggressiveness, inattention, and hallucinations. Additional treatments may include physical and occupational therapy, sensory integration, and/or speech therapy.",GARD,Succinic semialdehyde dehydrogenase deficiency +What are the symptoms of Ectrodactyly cleft palate syndrome ?,"What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Cleft palate - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectrodactyly cleft palate syndrome +What is (are) Autosomal recessive polycystic kidney disease ?,"Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called infantile PKD but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.",GARD,Autosomal recessive polycystic kidney disease +What are the symptoms of Autosomal recessive polycystic kidney disease ?,"What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital hepatic fibrosis 90% Depressed nasal ridge 90% Hypoplasia of the ear cartilage 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Polycystic kidney dysplasia 90% Renal insufficiency 90% Respiratory insufficiency 90% Abnormality of the pancreas 50% Biliary tract abnormality 50% Cystic liver disease 50% Renal hypoplasia/aplasia 50% Neonatal death 5% Absence of renal corticomedullary differentiation - Autosomal recessive inheritance - Dehydration - Enlarged kidneys - Esophageal varix - Hepatic cysts - Hepatomegaly - Oligohydramnios - Pancreatic cysts - Periportal fibrosis - Portal hypertension - Potter facies - Pulmonary hypoplasia - Renal cyst - Splenomegaly - Tubulointerstitial fibrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive polycystic kidney disease +Is Autosomal recessive polycystic kidney disease inherited ?,"How is autosomal recessive polycystic kidney disease inherited? Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier. Carriers do not typically show signs and symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. This means that with each pregnancy, there is a 75% (3 in 4) chance to have an unaffected child.",GARD,Autosomal recessive polycystic kidney disease +What are the treatments for Autosomal recessive polycystic kidney disease ?,"Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.",GARD,Autosomal recessive polycystic kidney disease +What are the symptoms of Osteopoikilosis and dacryocystitis ?,"What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased bone mineral density 90% Lacrimation abnormality 90% Autosomal dominant inheritance - Dacrocystitis - Osteopoikilosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopoikilosis and dacryocystitis +What is (are) Nicolaides-Baraitser syndrome ?,"Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS.",GARD,Nicolaides-Baraitser syndrome +What are the symptoms of Nicolaides-Baraitser syndrome ?,"What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people. All people with NCBRS have intellectual disability. In most cases it is severe, but in some cases it may be moderate or mild. Language is particularly limited, with at least 30% of affected people never developing speech. Major motor milestones such as sitting and walking are usually not very delayed. People with NCBRS are often happy and friendly, but may have temper tantrums or periods of aggression. Some people have some symptoms of autism spectrum disorder. Epilepsy occurs in about 2/3 of affected people. The type of seizures that occur can vary. Facial characteristics are usually not recognized in younger affected people. They may include a triangular-shaped face; prominent eyelashes; a nose with a broad base, thick nostrils, and upturned tip; a broad philtrum; and wide mouth. The palpebral fissures (width of the eyes) are sometimes narrow and/or downslanting. As people with NCBRS age, the amount of subcutaneous fat tissue tends to decrease, making the skin below the eyes sagging and wrinkled, especially at the cheeks when smiling. However, some affected people retain full cheeks. Facial characteristics typically become more pronounced with increasing age. In some affected adults, the lower third of the face becomes markedly broad. Sparse scalp hair is a major feature of NCBRS and is present in almost all affected people. It often gradually worsens with age, but in some people it improves over time. Skin is usually wrinkled and more noticeable in the distal limbs. Teeth may be widely spaced, and eruption of teeth (baby or adult) may be delayed. While the hands and feet usually appear normal at birth, the interphalangeal joints become prominent in the majority of affected people. Bone age can vary, and osteoporosis is not uncommon. The Human Phenotype Ontology provides the following list of signs and symptoms for Nicolaides-Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the palate 90% Anteverted nares 90% Brachydactyly syndrome 90% Cognitive impairment 90% Long philtrum 90% Microcephaly 90% Neurological speech impairment 90% Thin vermilion border 90% Triangular face 90% Wide mouth 90% Abnormality of the distal phalanx of finger 50% Abnormality of the eyelashes 50% Abnormality of the metacarpal bones 50% Abnormality of the nipple 50% Blepharophimosis 50% Clubbing of toes 50% Cryptorchidism 50% Eczema 50% Highly arched eyebrow 50% Narrow nasal bridge 50% Sandal gap 50% Scoliosis 50% Seizures 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Accelerated skeletal maturation 7.5% Delayed skeletal maturation 7.5% Hernia 7.5% Short stature 13 of 23 Narrow nasal bridge 12 of 22 Widely spaced teeth 11 of 21 Scoliosis 9 of 22 Unilateral narrow palpebral fissure 9 of 22 Eczema 8 of 23 Absent speech - Aggressive behavior - Broad philtrum - Failure to thrive - Intellectual disability, severe - Intrauterine growth retardation - Low anterior hairline - Poor speech - Prominent interphalangeal joints - Short metacarpal - Short metatarsal - Short phalanx of finger - Sparse scalp hair - Thick lower lip vermilion - Wide nasal base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nicolaides-Baraitser syndrome +What causes Nicolaides-Baraitser syndrome ?,"What causes Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. There may be some correlations between specific types of mutations and some of the features that result (called genotype-phenotype correlations), but more studies are needed to draw definitive conclusions.",GARD,Nicolaides-Baraitser syndrome +Is Nicolaides-Baraitser syndrome inherited ?,"How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins).",GARD,Nicolaides-Baraitser syndrome +What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ?,"What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased liver function - Dehydration - Metabolic acidosis - Myoglobinuria - Neonatal death - Rhabdomyolysis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Medium-chain 3-ketoacyl-coa thiolase deficiency +"What are the symptoms of Nephrotic syndrome, idiopathic, steroid-resistant ?","What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Edema - Focal segmental glomerulosclerosis - Hyperlipidemia - Hypoalbuminemia - Juvenile onset - Nephrotic syndrome - Proteinuria - Rapidly progressive - Stage 5 chronic kidney disease - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nephrotic syndrome, idiopathic, steroid-resistant" +What are the symptoms of Tetramelic monodactyly ?,"What are the signs and symptoms of Tetramelic monodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetramelic monodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 90% Autosomal dominant inheritance - Monodactyly (feet) - Monodactyly (hands) - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetramelic monodactyly +What are the symptoms of Congenital rubella ?,"What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Intrauterine growth retardation 90% Neurological speech impairment 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the pulmonary artery 50% Anemia 50% Aplasia/Hypoplasia of the iris 50% Atria septal defect 50% Cognitive impairment 50% Glaucoma 50% Hepatomegaly 50% Hypertonia 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Patent ductus arteriosus 50% Short stature 50% Skin rash 50% Splenomegaly 50% Strabismus 50% Thrombocytopenia 50% Ventricular septal defect 50% Visual impairment 50% Abnormality of the metaphyses 7.5% Opacification of the corneal stroma 7.5% Seizures 7.5% Type I diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital rubella +What is (are) Waardenburg syndrome type 2 ?,"Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.",GARD,Waardenburg syndrome type 2 +What are the symptoms of Waardenburg syndrome type 2 ?,"What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Waardenburg syndrome type 2 +How to diagnose Waardenburg syndrome type 2 ?,"How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family. In some subtypes, the genetic cause is a known gene. In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known. There are five different subtypes: Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3 Type 2B is associated with a locus on chromosome 1 Type 2C is associated with a locus on chromosome 8 Type 2D is caused by mutations is the SNAI2 gene on chromosome 8 Type 2E is caused by mutations in the SOX10 gene on chromosome 22 Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam. Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2, but do not help identify a specific subtype.",GARD,Waardenburg syndrome type 2 +What are the symptoms of Muscular dystrophy white matter spongiosis ?,"What are the signs and symptoms of Muscular dystrophy white matter spongiosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% EMG abnormality 90% Facial palsy 90% Macrocephaly 90% Muscular hypotonia 90% Myotonia 90% Narrow face 90% Seizures 90% Skeletal muscle atrophy 90% Respiratory insufficiency 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muscular dystrophy white matter spongiosis +What are the symptoms of Spondylometaphyseal dysplasia type A4 ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Micromelia 90% Platyspondyly 90% Short stature 90% Brachydactyly syndrome 50% Enlarged thorax 7.5% Limitation of joint mobility 7.5% Autosomal recessive inheritance - Broad ischia - Costochondral joint sclerosis - Coxa valga - Disproportionate short-limb short stature - Dolichocephaly - Enlargement of the costochondral junction - Flat acetabular roof - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Irregular patellae - Metaphyseal irregularity - Metaphyseal sclerosis - Metaphyseal widening - Narrow greater sacrosciatic notches - Osteoporotic metatarsal - Osteoporotic tarsals - Ovoid vertebral bodies - Pectus carinatum - Sclerotic humeral metaphysis - Severe short stature - Spondylometaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia type A4 +What is (are) Fetal cystic hygroma ?,"Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.",GARD,Fetal cystic hygroma +What are the symptoms of Fetal cystic hygroma ?,"What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Fetal cystic hygroma - Hydrops fetalis - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fetal cystic hygroma +What is (are) Mitochondrial complex IV deficiency ?,"Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.",GARD,Mitochondrial complex IV deficiency +What are the symptoms of Mitochondrial complex IV deficiency ?,"What are the signs and symptoms of Mitochondrial complex IV deficiency? There are currently 4 known forms of COX deficiency. The range and severity of signs and symptoms can vary widely from case to case. In one form, referred to as the benign infantile mitochondrial myopathy type, symptoms may be limited to the skeletal muscles. Episodes of lactic acidosis may occur and can cause life-threatening complications if left untreated. However, with appropriate treatment, individuals with this form of the condition may spontaneously recover within the first few years of life. In the second form of the disorder, referred to as the infantile mitochondrial myopathy type, the skeletal muscles as well as several other tissues (such as the heart, kidney, liver, brain, and/or connective tissue) are affected. Symptoms associated with this form typically begin within the first few weeks of life and may include muscle weakness; heart problems; kidney dysfunction; failure to thrive; difficulties sucking, swallowing, and/or breathing; and/or hypotonia. Affected infants may also have episodes of lactic acidosis. The third form of COX deficiency is thought to be a systemic form of the condition and is referred to as Leigh's disease. This form is characterized by progressive degeneration of the brain as well as dysfunction of several other organs including the heart, kidneys, muscles, and/or liver. Symptoms of this form, which predominantly involve the central nervous system, may begin between three months and two years of age and may include loss of previously acquired motor skills and/or head control; poor sucking ability; loss of appetite; vomiting; irritability; and possible seizures. Intellectual disability may also occur. In the fourth form of COX deficiency, the French-Canadian type, the brain (as in Leigh's disease) and liver are particularly affected in addition to the skeletal muscles and connective tissues. However, in this form, the kidneys and heart appear to have near-normal enzyme activity. Individuals with this form may have developmental delay; hypotonia; slight facial abnormalities; Leigh's disease; strabismus; ataxia; liver degeneration; and/or episodes of lactic acidosis. Although some mildly affected individuals survive into adolescence or adulthood, this condition is often fatal in childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex IV deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Anemia - Ataxia - Autosomal recessive inheritance - Decreased activity of cytochrome C oxidase in muscle tissue - Decreased liver function - Exercise intolerance - Exertional dyspnea - Failure to thrive - Glycosuria - Hepatomegaly - Hyperphosphaturia - Hypertrophic cardiomyopathy - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased intramyocellular lipid droplets - Increased serum lactate - Intellectual disability - Lactic acidosis - Mitochondrial inheritance - Motor delay - Muscular hypotonia - Optic atrophy - Pigmentary retinopathy - Proteinuria - Ptosis - Renal Fanconi syndrome - Renal tubular dysfunction - Respiratory difficulties - Respiratory insufficiency due to muscle weakness - Seizures - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial complex IV deficiency +What are the treatments for Mitochondrial complex IV deficiency ?,"How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual. Treatment generally does not reverse any damage that has already occurred. Prognosis varies depending on the form of COX deficiency present. Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome. It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs. Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases. Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers.",GARD,Mitochondrial complex IV deficiency +What is (are) Geniospasm ?,"Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families.",GARD,Geniospasm +What are the symptoms of Geniospasm ?,"What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chin myoclonus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Geniospasm +Is Geniospasm inherited ?,"How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.",GARD,Geniospasm +How to diagnose Geniospasm ?,"How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.",GARD,Geniospasm +What are the treatments for Geniospasm ?,"How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.",GARD,Geniospasm +What is (are) Hemifacial myohyperplasia ?,"Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.",GARD,Hemifacial myohyperplasia +What is (are) Combined malonic and methylmalonic aciduria ?,"Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic Alzheimer's disease and multiple sclerosis. Recently, researchers have found that mutations in the ACSF3 gene cause CMAMMA.",GARD,Combined malonic and methylmalonic aciduria +What are the symptoms of Combined malonic and methylmalonic aciduria ?,"What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Generalized clonic seizures - Ketoacidosis - Methylmalonic aciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Combined malonic and methylmalonic aciduria +What is (are) Currarino triad ?,"Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present. Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons. Currarino triad is most often caused by mutations in the MNX1 gene. Treatment depends on the type and severity of abnormalities present, but may involve surgery.",GARD,Currarino triad +What are the symptoms of Currarino triad ?,"What are the signs and symptoms of Currarino triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Currarino triad. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the sacrum 90% Presacral teratoma 90% Hemisacrum (S2-S5) 75% Bifid sacrum 22% Arteriovenous malformation 7.5% Bifid scrotum 7.5% Displacement of the external urethral meatus 7.5% Hypoplasia of penis 7.5% Lower limb asymmetry 7.5% Male pseudohermaphroditism 7.5% Abdominal distention - Anal atresia - Anal fistula - Anal stenosis - Anterior sacral meningocele - Autosomal dominant inheritance - Bicornuate uterus - Chronic constipation - Gastrointestinal obstruction - Horseshoe kidney - Incomplete penetrance - Neurogenic bladder - Perianal abscess - Rectovaginal fistula - Recurrent urinary tract infections - Septate vagina - Tethered cord - Urinary incontinence - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Currarino triad +What causes Currarino triad ?,"What causes Currarino triad? Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein. Less frequently, a complex phenotype of Currarino triad can be caused by microdeletions of 7q containing MNX1 (the long arm of chromosome 7 is missing a small piece of DNA which includes MNX1 and other genes).",GARD,Currarino triad +Is Currarino triad inherited ?,"How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.",GARD,Currarino triad +What are the symptoms of Acrokeratoelastoidosis of Costa ?,"What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrokeratoelastoidosis of Costa +What are the symptoms of Congenital toxoplasmosis ?,"What are the signs and symptoms of Congenital toxoplasmosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital toxoplasmosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Premature birth 90% Visual impairment 50% Anemia 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Ascites 7.5% Cardiomegaly 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypermelanotic macule 7.5% Intrauterine growth retardation 7.5% Lymphadenopathy 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Seizures 7.5% Thrombocytopenia 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital toxoplasmosis +What are the symptoms of Roifman syndrome ?,"What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system - Abnormality of the nasopharynx - Anteverted nares - Asthma - Blepharophimosis - Brachydactyly syndrome - Broad femoral head - Broad femoral neck - Clinodactyly of the 5th finger - Cutaneous finger syndactyly - Delayed puberty - Eczema - Eosinophilia - Hepatomegaly - Hip contracture - Hyperconvex nail - Hypermetropia - Hypogonadotrophic hypogonadism - Hypoplasia of the capital femoral epiphysis - Infancy onset short-trunk short stature - Intellectual disability, borderline - Intellectual disability, mild - Intrauterine growth retardation - Irregular capital femoral epiphysis - Irregular vertebral endplates - Long eyelashes - Long philtrum - Lymphadenopathy - Muscular hypotonia - Narrow nose - Otitis media - Portal fibrosis - Premature birth - Prominent eyelashes - Recurrent infections - Recurrent pneumonia - Recurrent sinusitis - Retinal dystrophy - Short 3rd metacarpal - Short 4th metacarpal - Short fifth metatarsal - Short fourth metatarsal - Short middle phalanx of finger - Single transverse palmar crease - Splenomegaly - Spondyloepiphyseal dysplasia - Strabismus - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Roifman syndrome +What is (are) Alport syndrome ?,"Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.",GARD,Alport syndrome +What are the symptoms of Alport syndrome ?,"What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Glomerulopathy 90% Retinopathy 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the lens 50% Aseptic leukocyturia 50% Cataract 50% Dry skin 50% Edema of the lower limbs 50% Hypertension 50% Migraine 50% Nephrotic syndrome 50% Pallor 50% Periorbital edema 50% Proteinuria 50% Renal insufficiency 50% Respiratory insufficiency 50% Tinnitus 50% Weight loss 50% Abdominal situs inversus 7.5% Abnormality of the macula 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Myopia 7.5% Nausea and vomiting 7.5% Neoplasm of the colon 7.5% Photophobia 7.5% Sarcoma 7.5% Thrombocytopenia 7.5% Uterine neoplasm 7.5% Anterior lenticonus - Congenital cataract - Corneal erosion - Diffuse glomerular basement membrane lamellation - Diffuse leiomyomatosis - Heterogeneous - Hypoparathyroidism - Ichthyosis - Microscopic hematuria - Nephritis - Progressive - Stage 5 chronic kidney disease - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alport syndrome +What causes Alport syndrome ?,"What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina.",GARD,Alport syndrome +Is Alport syndrome inherited ?,"How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in only one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GARD,Alport syndrome +What are the treatments for Alport syndrome ?,"How might Alport syndrome be treated? Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. Research suggests that ACE inhibitors can help reduce proteinuira and the progression of kidney disease. However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation. Kidney transplantation in patients with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop nephritis in the graft. Other aspects of the condition are addressed as needed. For instance, surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye may be needed. Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because of the inherited pattern of the disorder. Additional information related to the treatment of Alport syndrome can be accessed through GeneReviews and eMedicine.",GARD,Alport syndrome +What are the symptoms of Spinocerebellar ataxia 23 ?,"What are the signs and symptoms of Spinocerebellar ataxia 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 23. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum 5% Tremor 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - CNS demyelination - Dysarthria - Dysmetria - Gait ataxia - Hyperreflexia - Impaired vibration sensation in the lower limbs - Limb ataxia - Neuronal loss in central nervous system - Sensorimotor neuropathy - Slow progression - Slow saccadic eye movements - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 23 +What is (are) Leber hereditary optic neuropathy with dystonia ?,"Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.",GARD,Leber hereditary optic neuropathy with dystonia +What are the symptoms of Leber hereditary optic neuropathy with dystonia ?,"What are the signs and symptoms of Leber hereditary optic neuropathy with dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy with dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Athetosis - Bradykinesia - Dementia - Dysarthria - Dysphagia - Dystonia - Increased CSF lactate - Increased serum lactate - Intellectual disability - Leber optic atrophy - Mitochondrial inheritance - Optic atrophy - Peripheral neuropathy - Scoliosis - Skeletal muscle atrophy - Spasticity - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber hereditary optic neuropathy with dystonia +What is (are) Mucopolysaccharidosis type IIID ?,"Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.",GARD,Mucopolysaccharidosis type IIID +What are the symptoms of Mucopolysaccharidosis type IIID ?,"What are the signs and symptoms of Mucopolysaccharidosis type IIID? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIID. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent speech - Anteverted nares - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Coarse hair - Depressed nasal bridge - Diarrhea - Drooling - Dysarthria - Dysostosis multiplex - Dysphagia - Flexion contracture - Frontal bossing - Growth abnormality - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Low-set ears - Ovoid thoracolumbar vertebrae - Progressive - Prominent forehead - Recurrent upper respiratory tract infections - Seizures - Short neck - Sleep disturbance - Splenomegaly - Synophrys - Thick eyebrow - Thick lower lip vermilion - Thickened ribs - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type IIID +What is (are) Subcortical band heterotopia ?,"Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control.",GARD,Subcortical band heterotopia +What are the symptoms of Subcortical band heterotopia ?,"What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Subcortical band heterotopia +"What are the symptoms of Maturity-onset diabetes of the young, type 3 ?","What are the signs and symptoms of Maturity-onset diabetes of the young, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hyperglycemia - Infantile onset - Maturity-onset diabetes of the young - Type II diabetes mellitus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Maturity-onset diabetes of the young, type 3" +What is (are) Lysinuric protein intolerance ?,"Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.",GARD,Lysinuric protein intolerance +What are the symptoms of Lysinuric protein intolerance ?,"What are the signs and symptoms of Lysinuric protein intolerance? The Human Phenotype Ontology provides the following list of signs and symptoms for Lysinuric protein intolerance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Psychotic episodes 5% Alveolar proteinosis - Aminoaciduria - Anemia - Autosomal recessive inheritance - Cutis laxa - Delayed skeletal maturation - Diarrhea - Failure to thrive - Fine hair - Hemophagocytosis - Hepatomegaly - Hyperammonemia - Hyperextensible skin - Increased serum ferritin - Infantile onset - Leukopenia - Malnutrition - Muscle weakness - Muscular hypotonia - Nausea - Oroticaciduria - Osteoporosis - Pancreatitis - Phenotypic variability - Respiratory insufficiency - Short stature - Skeletal muscle atrophy - Sparse hair - Splenomegaly - Stage 5 chronic kidney disease - Thrombocytopenia - Truncal obesity - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lysinuric protein intolerance +"What are the symptoms of Nystagmus 3, congenital, autosomal dominant ?","What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Horizontal jerk nystagmus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nystagmus 3, congenital, autosomal dominant" +What is (are) Anonychia congenita ?,"Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. Less than 20 individuals with anonychia congenita have been identified. This condition is thought to be caused by mutations in the RSPO4 gene and inherited in an autosomal recessive fashion.",GARD,Anonychia congenita +What are the symptoms of Anonychia congenita ?,"What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anonychia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anonychia congenita +What are the treatments for Anonychia congenita ?,"How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare. After a careful review of the medical literature, we did not find any information about treatment for this condition.",GARD,Anonychia congenita +What is (are) Tetra-amelia syndrome ?,"Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner.",GARD,Tetra-amelia syndrome +What are the symptoms of Tetra-amelia syndrome ?,"What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the outer ear 90% Amelia 90% Aplasia/Hypoplasia involving the nose 90% Aplasia/Hypoplasia of the lungs 90% Hydrocephalus 90% Oral cleft 90% Polyhydramnios 90% Abnormal lung lobation 50% Abnormal vertebral ossification 50% Abnormality of the larynx 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the nipples 50% Cataract 50% Cryptorchidism 50% Iris coloboma 50% Microcornea 50% Multicystic kidney dysplasia 50% Narrow mouth 50% Optic atrophy 50% Septo-optic dysplasia 50% Tracheal stenosis 50% Urogenital fistula 50% Abnormality of the diaphragm - Absent external genitalia - Adrenal gland agenesis - Anal atresia - Asplenia - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Gastroschisis - Heterogeneous - Hypoplasia of the fallopian tube - Hypoplastic pelvis - Low-set ears - Microphthalmia - Peripheral pulmonary vessel aplasia - Pulmonary hypoplasia - Renal agenesis - Single naris - Single umbilical artery - Tetraamelia - Urethral atresia - Vaginal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetra-amelia syndrome +How to diagnose Tetra-amelia syndrome ?,"How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. Is genetic testing available for tetra-amelia syndrome? Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Tetra-amelia syndrome +What is (are) Immunodeficiency with hyper IgM type 1 ?,"Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children. Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.",GARD,Immunodeficiency with hyper IgM type 1 +What are the symptoms of Immunodeficiency with hyper IgM type 1 ?,"What are the signs and symptoms of Immunodeficiency with hyper IgM type 1? Symptoms and physical findings associated with hyper IgM syndrome usually become apparent in the first or second year of life. This condition may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in some cases, other areas. Other signs of the disease include enlarged tonsils, liver, and spleen, chronic diarrhea, and an increased risk of unusual or opportunistic infections and non-Hodgkins lymphoma. Opportunistic infections are infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract. In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood. Autoimmune attacks on red blood cells lead to anemia, while autoimmune destruction of infection-fighting neutrophils further increases the risk of infection. The range and severity of symptoms and physical features associated with this disorder may vary from case to case. The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of lymph node germinal center - Autoimmune hemolytic anemia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Bronchiectasis - Decreased T cell activation - Diarrhea - Dysgammaglobulinemia - Epididymitis - Gingivitis - Hemolytic anemia - Hepatitis - Hepatomegaly - IgA deficiency - IgE deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Impaired memory B-cell generation - Increased IgM level - Lymphadenopathy - Myelodysplasia - Neutropenia - Osteomyelitis - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - Recurrent upper respiratory tract infections - Splenomegaly - Stomatitis - Thrombocytopenia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immunodeficiency with hyper IgM type 1 +What causes Immunodeficiency with hyper IgM type 1 ?,"What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome. These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X-chromosome to offset the disease, boys far out number girls with this disease. A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.",GARD,Immunodeficiency with hyper IgM type 1 +What are the treatments for Immunodeficiency with hyper IgM type 1 ?,"How might hyper IgM syndrome be treated? The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. Patients with neutropenia can take granulocyte colony-stimulating factor (G-CSF). Antibiotics may also be prescribed to prevent the respiratory infection, pneumocystis carinii pneumonia. Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.",GARD,Immunodeficiency with hyper IgM type 1 +"What are the symptoms of Presenile dementia, Kraepelin type ?","What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dementia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Presenile dementia, Kraepelin type" +"What are the symptoms of Nail dysplasia, isolated congenital ?","What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Concave nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nail dysplasia, isolated congenital" +What is (are) Metaplastic carcinoma of the breast ?,"Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer.",GARD,Metaplastic carcinoma of the breast +What are the symptoms of Polyneuropathy mental retardation acromicria premature menopause ?,"What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Micromelia 90% Secondary amenorrhea 90% Short stature 90% Skeletal muscle atrophy 90% Camptodactyly of finger 50% Truncal obesity 50% Ulnar deviation of finger 50% Abnormality of pelvic girdle bone morphology 7.5% Arrhythmia 7.5% Furrowed tongue 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polyneuropathy mental retardation acromicria premature menopause +What are the symptoms of Keratosis palmoplantaris striata 1 ?,"What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratosis palmoplantaris striata 1 +What are the symptoms of Orofaciodigital syndrome 3 ?,"What are the signs and symptoms of Orofaciodigital syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pupil 90% Cleft palate 90% Cognitive impairment 90% Increased number of teeth 90% Kyphosis 90% Pectus excavatum 90% Postaxial hand polydactyly 90% Abnormal nasal morphology 50% Abnormality of eye movement 50% Abnormality of the fingernails 50% Abnormality of the nipple 50% Abnormality of the tragus 50% EEG abnormality 50% Frontal bossing 50% Hypertelorism 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Prominent occiput 50% Round face 50% Abnormality of the macula 7.5% Autosomal recessive inheritance - Bifid uvula - Bulbous nose - Hyperconvex nail - Intellectual disability - Low-set ears - Microdontia - Myoclonus - Postaxial foot polydactyly - Short sternum - Tongue nodules - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 3 +What is (are) Rickets ?,"Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.",GARD,Rickets +What are the symptoms of Rickets ?,What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities,GARD,Rickets +What causes Rickets ?,What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed without receiving vitamin D supplements Can't make or use vitamin D because of a medical disorder such as celiac disease Has an inherited disorder that affects vitamin D levels,GARD,Rickets +How to diagnose Rickets ?,"How is rickets diagnosed? Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. Bone biopsies are rarely performed, but can confirm the diagnosis of rickets.",GARD,Rickets +What are the treatments for Rickets ?,"What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If rickets is caused by an inherited disorder or another medical condition, a healthcare provider would determine the appropriate treatment.",GARD,Rickets +What are the symptoms of Fanconi like syndrome ?,"What are the signs and symptoms of Fanconi like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Multiple bilateral pneumothoraces - Multiple cutaneous malignancies - Osteomyelitis - Pancytopenia - Recurrent lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fanconi like syndrome +"What is (are) Crigler Najjar syndrome, type 2 ?","Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.",GARD,"Crigler Najjar syndrome, type 2" +"What are the symptoms of Crigler Najjar syndrome, type 2 ?","What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Crigler Najjar syndrome, type 2" +"What are the treatments for Crigler Najjar syndrome, type 2 ?","How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital. We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy.",GARD,"Crigler Najjar syndrome, type 2" +"What are the symptoms of Porokeratosis, disseminated superficial actinic 1 ?","What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nail dystrophy 5% Autosomal dominant inheritance - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Porokeratosis, disseminated superficial actinic 1" +What are the symptoms of Leri pleonosteosis ?,"What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Genu recurvatum 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Short stature 90% Thickened skin 90% Upslanted palpebral fissure 90% Abnormally straight spine 50% Blepharophimosis 50% Cubitus valgus 50% Scoliosis 50% Elbow dislocation 7.5% Strabismus 7.5% Microcornea 5% Abnormality of the carpal bones - Abnormality of the vertebral column - Autosomal dominant inheritance - Broad metacarpals - Broad thumb - Enlarged interphalangeal joints - Hallux valgus - Joint stiffness - Laryngeal stenosis - Pes cavus - Short metacarpal - Short metatarsal - Short palm - Short stepped shuffling gait - Short thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leri pleonosteosis +What are the symptoms of Brachyolmia type 3 ?,"What are the signs and symptoms of Brachyolmia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphosis 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Short thorax 90% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Barrel-shaped chest - Childhood-onset short-trunk short stature - Clinodactyly - Hypermetropia - Proximal femoral metaphyseal irregularity - Radial deviation of finger - Short femoral neck - Short neck - Spinal cord compression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachyolmia type 3 +What are the symptoms of Ehlers-Danlos syndrome with periventricular heterotopia ?,"What are the signs and symptoms of Ehlers-Danlos syndrome with periventricular heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome with periventricular heterotopia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Hernia 90% Pyloric stenosis 90% Scoliosis 90% Abnormality of the aortic valve 50% Cognitive impairment 50% Joint hypermobility 50% Morphological abnormality of the central nervous system 50% Patent ductus arteriosus 50% Seizures 50% Thin skin 50% Dilatation of the ascending aorta 7.5% Patellar dislocation 7.5% Shoulder dislocation 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ehlers-Danlos syndrome with periventricular heterotopia +What is (are) Warfarin sensitivity ?,"Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a ""blood-thinning"" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to experience an overdose or other serious side effects from the medication. They may experience abnormal bleeding in the brain, gastrointestinal tract, or other tissues even at average doses. The metabolism of warfarin and the drug's effects in the body are complex traits that are determined by several genes as well as environmental and lifestyle factors such as gender, age, weight, diet, and other medications. Two specific genetic polymorphisms in the CYP2C9 and VKORC1 genes account for approximately 30-40% of variation in the response to warfarin and can be passed on to future generations in an autosomal dominant manner.",GARD,Warfarin sensitivity +What are the symptoms of Warfarin sensitivity ?,"What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Warfarin sensitivity +What is (are) Mollaret meningitis ?,"Mollaret meningitis is a rare type of meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms. About half of affected individuals may also experience long-term abnormalities of the nervous system that come and go, such as seizures, double vision, abnormal reflexes, some paralysis of a cranial nerve (paresis), hallucinations, or coma. Mollaret meningitis is poorly understood and the exact cause remains unknown. However, recent data suggests that herpes simplex virus (HSV-2 and, less frequently, HSV-1) may cause some, if not most cases. Other causes may include trauma and viral infections other than herpes simplex.",GARD,Mollaret meningitis +What are the symptoms of Mollaret meningitis ?,"What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: High fever Severe headache Nausea Vomiting Stiff neck Photophobia (sensitivity to light) Altered mental state",GARD,Mollaret meningitis +What is (are) Osteochondritis dissecans ?,"Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy.",GARD,Osteochondritis dissecans +What are the symptoms of Osteochondritis dissecans ?,"What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.",GARD,Osteochondritis dissecans +What causes Osteochondritis dissecans ?,"What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans.",GARD,Osteochondritis dissecans +How to diagnose Osteochondritis dissecans ?,"How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here.",GARD,Osteochondritis dissecans +What are the treatments for Osteochondritis dissecans ?,"How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint.",GARD,Osteochondritis dissecans +What are the symptoms of McDonough syndrome ?,"What are the signs and symptoms of McDonough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McDonough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Dental malocclusion 90% Kyphosis 90% Macrotia 90% Prominent supraorbital ridges 90% Scoliosis 90% Short stature 90% Strabismus 90% Synophrys 90% Abnormality of the palate 50% Blepharophimosis 50% Cryptorchidism 50% Decreased body weight 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Pectus excavatum 50% Ptosis 50% Short philtrum 50% Single transverse palmar crease 50% Underdeveloped nasal alae 50% Abnormal facial shape - Aortic valve stenosis - Atria septal defect - Autosomal recessive inheritance - Clinodactyly - Diastasis recti - Hypoplastic toenails - Intellectual disability - Kyphoscoliosis - Pectus carinatum - Prominent nose - Pulmonic stenosis - Radial deviation of finger - Sparse hair - Upslanted palpebral fissure - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,McDonough syndrome +What are the symptoms of Recurrent hydatidiform mole ?,"What are the signs and symptoms of Recurrent hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Recurrent hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Recurrent hydatidiform mole +What are the symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome ?,"What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized osteoporosis - Hypopigmentation of the skin - Ocular albinism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteoporosis oculocutaneous hypopigmentation syndrome +What is (are) BRCA2 hereditary breast and ovarian cancer syndrome ?,"BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.",GARD,BRCA2 hereditary breast and ovarian cancer syndrome +What are the symptoms of BRCA2 hereditary breast and ovarian cancer syndrome ?,"What are the signs and symptoms of BRCA2 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA2 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,BRCA2 hereditary breast and ovarian cancer syndrome +What is (are) Keutel syndrome ?,"Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.",GARD,Keutel syndrome +What are the symptoms of Keutel syndrome ?,"What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Calcification of cartilage 90% Depressed nasal bridge 90% Long face 90% Malar flattening 90% Short distal phalanx of finger 90% Tracheal stenosis 90% Abnormality of the voice 50% Chondrocalcinosis 50% Cognitive impairment 50% Hearing impairment 50% Otitis media 50% Pulmonary hypertension 50% Recurrent respiratory infections 50% Sinusitis 50% Sloping forehead 50% Underdeveloped nasal alae 50% Ventricular septal defect 50% Alopecia 7.5% Aplasia/Hypoplasia of the skin 7.5% Cutis laxa 7.5% Optic atrophy 7.5% Seizures 7.5% Short stature 7.5% Autosomal recessive inheritance - Calcification of the auricular cartilage - Cartilaginous ossification of larynx - Cartilaginous ossification of nose - Cerebral calcification - Chronic sinusitis - Costal cartilage calcification - Deep philtrum - Epiphyseal stippling - Growth abnormality - Hypoplasia of midface - Intellectual disability, mild - Macrotia - Nasal speech - Peripheral pulmonary artery stenosis - Premature fusion of phalangeal epiphyses - Pulmonary artery hypoplasia - Pulmonic stenosis - Recurrent bronchitis - Recurrent otitis media - Short hallux - Short thumb - Spontaneous abortion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keutel syndrome +What are the symptoms of Maternal hyperphenylalaninemia ?,"What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 50% Aggressive behavior - Anxiety - Attention deficit hyperactivity disorder - Autosomal recessive inheritance - Blue irides - Cataract - Cerebral calcification - Dry skin - Eczema - Fair hair - Generalized hypopigmentation - Hyperphenylalaninemia - Hyperreflexia - Intellectual disability - Irritability - Maternal hyperphenylalaninemia - Microcephaly - Obsessive-compulsive behavior - Phenylpyruvic acidemia - Psychosis - Reduced phenylalanine hydroxylase activity - Scleroderma - Seizures - Self-mutilation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Maternal hyperphenylalaninemia +What are the symptoms of Jung Wolff Back Stahl syndrome ?,"What are the signs and symptoms of Jung Wolff Back Stahl syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jung Wolff Back Stahl syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Depressed nasal bridge 90% Dry skin 90% Hypothyroidism 90% Low posterior hairline 90% Microcephaly 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Round face 90% Tracheal stenosis 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Abnormality of the genital system 50% Aplasia/Hypoplasia of the corpus callosum 50% Telecanthus 50% Abnormality of the hair - Abnormality of the teeth - Abnormality of the thorax - Anterior segment dysgenesis - Cerebellar hypoplasia - Congenital hypothyroidism - Dandy-Walker malformation - Growth delay - Growth hormone deficiency - Hip dysplasia - Hypoplasia of penis - Iris coloboma - Short foot - Short neck - Stenosis of the external auditory canal - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jung Wolff Back Stahl syndrome +"What is (are) Chondrodysplasia punctata 1, X-linked recessive ?","Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.",GARD,"Chondrodysplasia punctata 1, X-linked recessive" +"What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ?","What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vertebral column - Anosmia - Cataract - Depressed nasal bridge - Epiphyseal stippling - Hearing impairment - Hypogonadism - Ichthyosis - Microcephaly - Short distal phalanx of finger - Short nasal septum - Short nose - Short stature - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Chondrodysplasia punctata 1, X-linked recessive" +What is (are) Adult neuronal ceroid lipofuscinosis ?,"Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.",GARD,Adult neuronal ceroid lipofuscinosis +What are the symptoms of Adult neuronal ceroid lipofuscinosis ?,"What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Abnormality of extrapyramidal motor function 90% Behavioral abnormality 90% Developmental regression 90% Incoordination 90% Involuntary movements 90% Seizures 90% Retinopathy 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adult neuronal ceroid lipofuscinosis +What is (are) Myhre syndrome ?,"Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.",GARD,Myhre syndrome +What are the symptoms of Myhre syndrome ?,"What are the signs and symptoms of Myhre syndrome? Myhre syndrome is a condition with features affecting many systems and functions of the body. Associated findings might include: Delayed development of language and motor skills such as crawling and walking Intellectual disability that ranges from mild to moderate Behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction Hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss) Reduced growth, beginning before birth and continuing through adolescence and affecting weight and height (many are shorter than about 97 percent of their peers) Stiffness of the skin resulting in a muscular appearance Skeletal abnormalities including thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly) Joint problems (arthropathy), including stiffness and limited mobility Typical facial features including narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism) An opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both Constriction of the throat (laryngotracheal stenosis) High blood pressure (hypertension) Heart or eye abnormalities In males, undescended testes (cryptorchidism) The Human Phenotype Ontology provides the following list of signs and symptoms for Myhre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing impairment 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Malar flattening 90% Mandibular prognathia 90% Narrow mouth 90% Platyspondyly 90% Short philtrum 90% Short stature 90% Skeletal muscle hypertrophy 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the metaphyses 50% Blepharophimosis 50% Cryptorchidism 50% EMG abnormality 50% Hypermetropia 50% Hypertension 50% Ptosis 50% Thickened skin 50% Behavioral abnormality 7.5% Cataract 7.5% Cleft palate 7.5% Displacement of the external urethral meatus 7.5% Hernia of the abdominal wall 7.5% Non-midline cleft lip 7.5% Precocious puberty 7.5% Ataxia 5% Microphthalmia 5% Obesity 5% Oral cleft 5% Respiratory failure 5% Respiratory insufficiency 5% 2-3 toe syndactyly - Abnormality of the voice - Aortic valve stenosis - Autism - Autosomal dominant inheritance - Broad ribs - Camptodactyly - Clinodactyly - Coarctation of aorta - Cone-shaped epiphysis - Deeply set eye - Enlarged vertebral pedicles - Fine hair - Generalized muscle hypertrophy - Hypertelorism - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic iliac wing - Intellectual disability - Laryngotracheal stenosis - Low-set ears - Microcephaly - Microtia - Overlapping toe - Patent ductus arteriosus - Pericardial effusion - Prominent nasal bridge - Radial deviation of finger - Seizures - Short finger - Short long bone - Short neck - Short toe - Sparse hair - Stiff skin - Strabismus - Thick eyebrow - Thickened calvaria - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myhre syndrome +What causes Myhre syndrome ?,"What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.",GARD,Myhre syndrome +Is Myhre syndrome inherited ?,"How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GARD,Myhre syndrome +What are the treatments for Myhre syndrome ?,"How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential.",GARD,Myhre syndrome +What are the symptoms of Maple syrup urine disease type 1B ?,"What are the signs and symptoms of Maple syrup urine disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Maple syrup urine disease type 1B +What are the symptoms of Cardioskeletal syndrome Kuwaiti type ?,"What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metaphyses 90% Accelerated skeletal maturation 90% Atria septal defect 90% Limb undergrowth 90% Narrow chest 90% Short stature 90% Ventricular septal defect 90% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the ribs 50% Abnormality of the tricuspid valve 50% Kyphosis 50% Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Skeletal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cardioskeletal syndrome Kuwaiti type +What is (are) Benign hereditary chorea ?,"Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.",GARD,Benign hereditary chorea +What are the symptoms of Benign hereditary chorea ?,"What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Benign hereditary chorea +What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ?,"What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of dental morphology 90% Abnormality of the eyelashes 90% Fine hair 90% Reduced number of teeth 90% Delayed eruption of teeth 50% Hyperlordosis 50% Increased number of teeth 50% Palmoplantar keratoderma 50% Scoliosis 50% Sparse lateral eyebrow 50% Abnormality of female internal genitalia 7.5% Abnormality of the hip bone 7.5% Adenoma sebaceum 7.5% Cafe-au-lait spot 7.5% Hypermetropia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pinheiro Freire-Maia Miranda syndrome +What are the symptoms of I cell disease ?,"What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax 90% Coarse facial features 90% Cognitive impairment 90% Corneal erosion 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Morphological abnormality of the central nervous system 90% Short stature 90% Splenomegaly 90% Anteverted nares 50% Depressed nasal bridge 50% Epicanthus 50% Lack of skin elasticity 50% Long philtrum 50% Thin skin 50% Abnormality of the heart valves 7.5% Abnormality of the wrist 7.5% Broad alveolar ridges 7.5% Cavernous hemangioma 7.5% Congestive heart failure 7.5% Corneal dystrophy 7.5% Kyphosis 7.5% Recurrent respiratory infections 7.5% Weight loss 7.5% Abnormality of the rib cage - Aortic regurgitation - Atlantoaxial dislocation - Autosomal recessive inheritance - Beaking of vertebral bodies T12-L3 - Bullet-shaped phalanges of the hand - Cardiomegaly - Carpal bone hypoplasia - Death in childhood - Deficiency of N-acetylglucosamine-1-phosphotransferase - Diastasis recti - Failure to thrive - Flared iliac wings - Flat acetabular roof - Heart murmur - High forehead - Hip dislocation - Hoarse voice - Hypertrophic cardiomyopathy - Hypoplasia of the odontoid process - Hypoplastic scapulae - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Inguinal hernia - Large sella turcica - Lower thoracic interpediculate narrowness - Macroglossia - Megalocornea - Metaphyseal widening - Mucopolysacchariduria - Myelopathy - Narrow forehead - Neonatal hypotonia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Palpebral edema - Pathologic fracture - Progressive alveolar ridge hypertropy - Protuberant abdomen - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Severe global developmental delay - Severe postnatal growth retardation - Short long bone - Sparse eyebrow - Split hand - Talipes equinovarus - Thickened calvaria - Thoracolumbar kyphoscoliosis - Umbilical hernia - Varus deformity of humeral neck - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,I cell disease +What is (are) Familial prostate cancer ?,"Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.",GARD,Familial prostate cancer +What are the symptoms of Familial prostate cancer ?,"What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Neoplasm - Prostate cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial prostate cancer +What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ?,"What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the wrist 90% Anteverted nares 90% Behavioral abnormality 90% Cognitive impairment 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Facial asymmetry 90% Hypertelorism 90% Hypopigmented skin patches 90% Proximal placement of thumb 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Wide mouth 90% Abnormality of the genital system 50% Deep philtrum 50% Finger syndactyly 50% Long philtrum 50% Ptosis 50% Scoliosis 50% Abnormal localization of kidney 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epiphyseal dysplasia hearing loss dysmorphism +What are the symptoms of Penttinen-Aula syndrome ?,"What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Penttinen-Aula syndrome +What is (are) Limb dystonia ?,"Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients.",GARD,Limb dystonia +What are the symptoms of Johnson neuroectodermal syndrome ?,"What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Alopecia 90% Abnormality of the eyelashes 50% Abnormality of the pinna 50% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Cognitive impairment 50% Conductive hearing impairment 50% Facial asymmetry 50% Facial palsy 50% Short stature 50% Abnormal nasal morphology 7.5% Abnormality of the sense of smell 7.5% Cafe-au-lait spot 7.5% Choanal atresia 7.5% Cleft palate 7.5% Developmental regression 7.5% Hypohidrosis 7.5% Microcephaly 7.5% Preaxial hand polydactyly 7.5% Tetralogy of Fallot 7.5% Choanal stenosis 5% Decreased testicular size 5% Micropenis 5% Patent ductus arteriosus 5% Retrognathia 5% Right aortic arch 5% Sparse hair 5% Ventricular septal defect 5% Absent eyebrow - Absent eyelashes - Anosmia - Atresia of the external auditory canal - Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - Intellectual disability - Microtia - Multiple cafe-au-lait spots - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Johnson neuroectodermal syndrome +What are the symptoms of Hypomagnesemia primary ?,"What are the signs and symptoms of Hypomagnesemia primary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia primary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Astigmatism - Autosomal recessive inheritance - Chronic kidney disease - Failure to thrive - Feeding difficulties in infancy - Hematuria - Hypercalciuria - Hypermagnesiuria - Hypermetropia - Hyperuricemia - Hypocitraturia - Hypomagnesemia - Juvenile onset - Myopia - Nephrocalcinosis - Nephrolithiasis - Nystagmus - Polydipsia - Polyuria - Recurrent urinary tract infections - Renal calcium wasting - Renal magnesium wasting - Renal tubular acidosis - Seizures - Strabismus - Tetany - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypomagnesemia primary +What is (are) Nonseminomatous germ cell tumor ?,"Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems.",GARD,Nonseminomatous germ cell tumor +What is (are) Distal chromosome 18q deletion syndrome ?,"Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.",GARD,Distal chromosome 18q deletion syndrome +What are the symptoms of Distal chromosome 18q deletion syndrome ?,"What are the signs and symptoms of Distal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Distal chromosome 18q deletion syndrome +What is (are) Retinochoroidal coloboma ?,"Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.",GARD,Retinochoroidal coloboma +What are the symptoms of PHAVER syndrome ?,"What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the ribs 90% Amniotic constriction ring 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Pterygium 90% Ulnar deviation of finger 90% Ventricular septal defect 90% Vertebral segmentation defect 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Aplasia/Hypoplasia of the earlobes 50% Aplasia/Hypoplasia of the thumb 50% Atria septal defect 50% Camptodactyly of finger 50% Conductive hearing impairment 50% Depressed nasal bridge 50% Epicanthus 50% Limitation of joint mobility 50% Myelomeningocele 50% Overfolded helix 50% Preaxial foot polydactyly 50% Radioulnar synostosis 50% Triphalangeal thumb 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,PHAVER syndrome +What is (are) Hypophosphatemic rickets ?,"Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.",GARD,Hypophosphatemic rickets +What are the symptoms of Hypophosphatemic rickets ?,"What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. Other symptoms may include premature closure of the skull bones in babies (craniosynostosis); limited joint movement; and dental abnormalities. If left untreated, symptoms worsen over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatemic rickets. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypophosphatemic rickets +What causes Hypophosphatemic rickets ?,"What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. Other genes that can be responsible for the condition include the CLCN5, DMP1, ENPP1, FGF23, and SLC34A3 genes. The genes associated with hereditary hypophosphatemic rickets are involved in keeping a proper balance of phosphate in the body. Many of these genes directly or indirectly regulate a protein that normally inhibits the kidneys' ability to reabsorb phosphate into the blood. Mutations affecting the function of these genes increase the production (or reduce the breakdown) of the protein, causing the protein to be overactive. The overactivity of the protein reduces phosphate reabsorption by the kidneys, leading to the features of the condition. Rarer, sporadic, acquired cases are sometimes associated with benign (non-cancerous) mesenchymal tumors that decrease resorption of phosphate.",GARD,Hypophosphatemic rickets +Is Hypophosphatemic rickets inherited ?,"How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females. If a father has the mutated X-linked gene: all of his daughters will inherit the mutated gene (they will all receive his X chromosome) none of his sons will inherit the mutated gene (they only inherit his Y chromosome) If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene. Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.",GARD,Hypophosphatemic rickets +What is (are) Rotor syndrome ?,"Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed.",GARD,Rotor syndrome +What are the symptoms of Rotor syndrome ?,"What are the signs and symptoms of Rotor syndrome? Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go. The Human Phenotype Ontology provides the following list of signs and symptoms for Rotor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of skin pigmentation - Abnormality of the skeletal system - Autosomal recessive inheritance - Conjugated hyperbilirubinemia - Jaundice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rotor syndrome +What causes Rotor syndrome ?,"What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile, and then excreted from the body. The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly. When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice.",GARD,Rotor syndrome +How to diagnose Rotor syndrome ?,"How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin. To confirm a disgnosis of Rotor syndrome, a person may have the following performed: testing for serum bilirubin concentration testing for bilirubin in the urine testing for hemolysis and liver enzyme activity (to rule out other conditions) cholescintigraphy (also called an HIDA scan) testing for total urinary porphyrins",GARD,Rotor syndrome +What are the treatments for Rotor syndrome ?,"How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people. People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.",GARD,Rotor syndrome +What are the symptoms of Oculomaxillofacial dysostosis ?,"What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculomaxillofacial dysostosis +What are the symptoms of Patterson pseudoleprechaunism syndrome ?,"What are the signs and symptoms of Patterson pseudoleprechaunism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterson pseudoleprechaunism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the hypothalamus-pituitary axis 90% Abnormality of the metaphyses 90% Cognitive impairment 90% Delayed skeletal maturation 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Kyphosis 90% Macrotia 90% Abnormality of the clavicle 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Hypercortisolism 50% Hyperextensible skin 50% Precocious puberty 50% Seizures 50% Type II diabetes mellitus 50% Cervical platyspondyly - Diabetes mellitus - Flat acetabular roof - Generalized bronze hyperpigmentation - Genu valgum - Growth abnormality - Hirsutism - Hypoplasia of the odontoid process - Intellectual disability, progressive - Intellectual disability, severe - Irregular acetabular roof - Irregular sclerotic endplates - Joint swelling onset late infancy - Kyphoscoliosis - Large hands - Long foot - Marked delay in bone age - Ovoid thoracolumbar vertebrae - Palmoplantar cutis laxa - Premature adrenarche - Prominent nose - Short long bone - Small cervical vertebral bodies - Sporadic - Talipes valgus - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Patterson pseudoleprechaunism syndrome +What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ?,"What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the palpebral fissures 90% Abnormality of the toenails 90% Coarse hair 90% Hypohidrosis 90% Non-midline cleft lip 90% Abnormality of dental enamel 50% Abnormality of dental morphology 50% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Generalized hyperpigmentation 50% Palmoplantar keratoderma 50% Reduced number of teeth 50% Abnormality of the pinna 7.5% Abnormality of the voice 7.5% Clinodactyly of the 5th finger 7.5% Conductive hearing impairment 7.5% Delayed eruption of teeth 7.5% Finger syndactyly 7.5% Lacrimation abnormality 7.5% Supernumerary nipple 7.5% Ventricular septal defect 7.5% 2-3 toe syndactyly - Abnormality of the nervous system - Absent eyelashes - Anhidrosis - Ankyloblepharon - Anonychia - Atresia of the external auditory canal - Autosomal dominant inheritance - Blepharitis - Cleft upper lip - Conical tooth - Conjunctivitis - Hyperconvex nail - Hyperpigmentation of the skin - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Lacrimal duct atresia - Micropenis - Nail dystrophy - Oval face - Patchy alopecia - Patent ductus arteriosus - Selective tooth agenesis - Sparse body hair - Sparse eyelashes - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Seres-Santamaria Arimany Muniz syndrome +What is (are) Herpes simplex encephalitis ?,"Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy.",GARD,Herpes simplex encephalitis +What are the symptoms of Facio thoraco genital syndrome ?,"What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal recessive inheritance - Glandular hypospadias - Long philtrum - Microphthalmia - Pectus excavatum - Prominent scrotal raphe - Shawl scrotum - Small nail - Smooth philtrum - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Facio thoraco genital syndrome +What are the symptoms of Bardet-Biedl syndrome 5 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 5 +What are the symptoms of Ceroid lipofuscinosis neuronal 1 ?,"What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ceroid lipofuscinosis neuronal 1 +"What are the symptoms of Deafness, epiphyseal dysplasia, short stature ?","What are the signs and symptoms of Deafness, epiphyseal dysplasia, short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, epiphyseal dysplasia, short stature. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 90% Short stature 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Hyperlordosis 50% Lacrimation abnormality 50% Myopia 50% Pointed chin 50% Short neck 50% Short thorax 50% Triangular face 50% Umbilical hernia 50% Brachydactyly syndrome 7.5% Frontal bossing 7.5% Neurological speech impairment 7.5% Retinal detachment 7.5% Abnormality of femoral epiphysis - Autosomal recessive inheritance - Growth delay - Inguinal hernia - Intellectual disability, moderate - Lacrimal duct stenosis - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, epiphyseal dysplasia, short stature" +What are the symptoms of Osteogenesis imperfecta type VII ?,"What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type VII +What are the symptoms of Premature aging Okamoto type ?,"What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the hair - Abnormality of the pinna - Cataract - Depressed nasal bridge - Diabetes mellitus - Growth abnormality - Low-set ears - Microcephaly - Neoplasm - Osteoporosis - Osteosarcoma - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Premature aging Okamoto type +What are the symptoms of Cone-rod dystrophy 2 ?,"What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision - Autosomal dominant inheritance - Blindness - Chorioretinal atrophy - Cone/cone-rod dystrophy - Constriction of peripheral visual field - Nyctalopia - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone-rod dystrophy 2 +What is (are) Bronchiolitis obliterans organizing pneumonia ?,"Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.",GARD,Bronchiolitis obliterans organizing pneumonia +What are the symptoms of Bronchiolitis obliterans organizing pneumonia ?,"What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss.",GARD,Bronchiolitis obliterans organizing pneumonia +What causes Bronchiolitis obliterans organizing pneumonia ?,"What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).",GARD,Bronchiolitis obliterans organizing pneumonia +How to diagnose Bronchiolitis obliterans organizing pneumonia ?,"How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis.",GARD,Bronchiolitis obliterans organizing pneumonia +What are the treatments for Bronchiolitis obliterans organizing pneumonia ?,"How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromycin in the form of azithromycin, and Mycophenolate Mofetil (CellCept). More esearch is needed to determine the long-term safety and effectiveness of these potential treatment options for individuals with BOOP. In rare cases, lung transplantation may be necessary for individuals with BOOP who do not respond to standard treatment options.",GARD,Bronchiolitis obliterans organizing pneumonia +What is (are) Mycobacterium Malmoense ?,"Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis).",GARD,Mycobacterium Malmoense +What are the symptoms of Mycobacterium Malmoense ?,"What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.",GARD,Mycobacterium Malmoense +What causes Mycobacterium Malmoense ?,"How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.",GARD,Mycobacterium Malmoense +What is (are) Nemaline myopathy ?,"Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.",GARD,Nemaline myopathy +What is (are) Leber hereditary optic neuropathy ?,"Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.",GARD,Leber hereditary optic neuropathy +What are the symptoms of Leber hereditary optic neuropathy ?,"What are the signs and symptoms of Leber hereditary optic neuropathy? Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens, often leading to severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In rare cases, other symptoms may occur such as heart arrhythmias and neurologic abnormalities (e.g., postural tremor, peripheral neuropathy, nonspecific myopathy, movement disorders), and a multiple sclerosis-like disorder. However, a significant percentage of people with a mutation that causes Leber hereditary optic neuropathy do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related medical problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies of these factors have produced conflicting results. Researchers are also investigating whether changes in additional genes, particularly genes on the X chromosome, contribute to the development of signs and symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Optic neuropathy 33% Arrhythmia - Ataxia - Central retinal vessel vascular tortuosity - Centrocecal scotoma - Dystonia - Heterogeneous - Incomplete penetrance - Leber optic atrophy - Mitochondrial inheritance - Myopathy - Optic atrophy - Polyneuropathy - Postural tremor - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber hereditary optic neuropathy +What causes Leber hereditary optic neuropathy ?,"What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.",GARD,Leber hereditary optic neuropathy +Is Leber hereditary optic neuropathy inherited ?,"How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.",GARD,Leber hereditary optic neuropathy +What is (are) Sprengel deformity ?,"Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.",GARD,Sprengel deformity +What are the symptoms of Sprengel deformity ?,"What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it. Other features that have been found in association with Sprengel deformity include: scoliosis Klippel Feil syndrome limb length discrepancy an underdeveloped backbone (hemivertebrae) missing, fused, or extra ribs (cervical ribs) abnormalities of the collarbone abnormalities of the chest organs of the body displaced on the opposite side (ex: liver on the left and heart on the right) spina bifida occulta cleft palate The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Sprengel anomaly 90% Cleft palate 7.5% Autosomal dominant inheritance - Cervical segmentation defect - Hemivertebrae - Neck muscle hypoplasia - Rib segmentation abnormalities - Scoliosis - Shoulder muscle hypoplasia - Spina bifida occulta - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sprengel deformity +What are the treatments for Sprengel deformity ?,"How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.",GARD,Sprengel deformity +What is (are) Immunotactoid or fibrillary glomerulopathy ?,"Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as ""Congo red"" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.",GARD,Immunotactoid or fibrillary glomerulopathy +What is (are) Congenital hepatic fibrosis ?,"Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.",GARD,Congenital hepatic fibrosis +What causes Congenital hepatic fibrosis ?,"What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive , autosomal dominant , or X-linked recessive disorders.",GARD,Congenital hepatic fibrosis +What is (are) TAR syndrome ?,"TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.",GARD,TAR syndrome +What are the symptoms of TAR syndrome ?,"What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral radial aplasia 100% Abnormality of coagulation 90% Aplasia/Hypoplasia of the ulna 90% Thrombocytopenia 90% Clinodactyly of the 5th finger 75% Cow milk allergy 75% Coxa valga 75% Eosinophilia 75% Genu varum 75% Hip dislocation 75% Patellar aplasia 75% Abnormality of the intestine 50% Adducted thumb 50% Aplasia/hypoplasia of the humerus 50% Broad forehead 50% Broad thumb 50% High forehead 50% Low-set, posteriorly rotated ears 50% Patellar dislocation 50% Death in infancy 40% Anemia 33% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the shoulder 7.5% Carpal bone hypoplasia 7.5% Cavum septum pellucidum 7.5% Cerebellar hypoplasia 7.5% Cleft palate 7.5% Delayed CNS myelination 7.5% Edema of the dorsum of feet 7.5% Edema of the dorsum of hands 7.5% Finger syndactyly 7.5% Hepatosplenomegaly 7.5% Lateral clavicle hook 7.5% Malar flattening 7.5% Nevus flammeus of the forehead 7.5% Phocomelia 7.5% Ptosis 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Short phalanx of finger 7.5% Strabismus 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Tibial torsion 7.5% Short stature 7% Aplasia of the uterus 5% Axial malrotation of the kidney 5% Cervical ribs 5% Coarctation of aorta 5% Fibular aplasia 5% Fused cervical vertebrae 5% Anteverted nares - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Carpal synostosis - Decreased antibody level in blood - Horseshoe kidney - Meckel diverticulum - Motor delay - Pancreatic cysts - Seborrheic dermatitis - Seizures - Shoulder muscle hypoplasia - Spina bifida - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,TAR syndrome +What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,"What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +What is (are) Imerslund-Grasbeck syndrome ?,"Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.",GARD,Imerslund-Grasbeck syndrome +What are the symptoms of Imerslund-Grasbeck syndrome ?,"What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age. The Human Phenotype Ontology provides the following list of signs and symptoms for Imerslund-Grasbeck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Childhood onset - Confusion - Dementia - Malabsorption of Vitamin B12 - Megaloblastic anemia - Paresthesia - Proteinuria - Sensory impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Imerslund-Grasbeck syndrome +How to diagnose Imerslund-Grasbeck syndrome ?,"How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.",GARD,Imerslund-Grasbeck syndrome +What is (are) Leprechaunism ?,"Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.",GARD,Leprechaunism +What are the symptoms of Leprechaunism ?,"What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the nasal alae 90% Abnormality of the palate 90% Cognitive impairment 90% Decreased body weight 90% Hearing abnormality 90% Hyperinsulinemia 90% Hypertelorism 90% Hypoglycemia 90% Intrauterine growth retardation 90% Long penis 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Proptosis 90% Recurrent respiratory infections 90% Short stature 90% Skeletal muscle atrophy 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Type II diabetes mellitus 90% Abnormality of the liver 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Female pseudohermaphroditism 50% Gynecomastia 50% Hypertrichosis 50% Lipoatrophy 50% Umbilical hernia 50% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cryptorchidism 7.5% Microcephaly 7.5% Abdominal distention - Abnormality of the abdominal wall - Acanthosis nigricans - Adipose tissue loss - Autosomal recessive inheritance - Cholestasis - Clitoromegaly - Elfin facies - Fasting hypoglycemia - Gingival overgrowth - Hepatic fibrosis - Hyperglycemia - Hyperkeratosis - Hypermelanotic macule - Large hands - Long foot - Low-set ears - Nail dysplasia - Ovarian cyst - Pancreatic islet-cell hyperplasia - Postnatal growth retardation - Postprandial hyperglycemia - Precocious puberty - Prominent nipples - Recurrent infections - Severe failure to thrive - Small face - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leprechaunism +What is (are) Secondary adrenal insufficiency ?,"Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The lack of these hormones in the body can be caused by reduction or cessation of corticosteroid medication, the surgical removal of pituitary tumors, or changes in the pituitary gland. Symptoms of secondary adrenal insufficiency may include severe fatigue, loss of appetite, weight loss, nausea, vomiting, diarrhea, muscle weakness, irritability, and depression. Treatment includes replacing the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of each affected individual.",GARD,Secondary adrenal insufficiency +What is (are) Multiple epiphyseal dysplasia ?,"Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.",GARD,Multiple epiphyseal dysplasia +What are the symptoms of Multiple epiphyseal dysplasia ?,"What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Abnormality of the wrist 90% Anteverted nares 90% Aplasia/Hypoplasia of the sacrum 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Myopia 90% Osteoarthritis 90% Rough bone trabeculation 90% Round face 90% Sensorineural hearing impairment 90% Short palm 90% Tarsal synostosis 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Gait disturbance 50% Malar flattening 50% Micromelia 50% Patellar aplasia 50% Scoliosis 50% Short stature 50% Talipes 50% Anonychia 7.5% Genu valgum 7.5% Genu varum 7.5% Hearing abnormality 7.5% Abnormality of the hip joint - Arthralgia of the hip - Autosomal dominant inheritance - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Coxa vara - Delayed epiphyseal ossification - Delayed ossification of carpal bones - Delayed tarsal ossification - Disproportionate short-limb short stature - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Flat capital femoral epiphysis - Flattened epiphysis - Generalized joint laxity - Hip dysplasia - Hip osteoarthritis - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the femoral head - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Knee osteoarthritis - Limited elbow flexion - Limited hip movement - Metaphyseal irregularity - Mild short stature - Multiple epiphyseal dysplasia - Ovoid vertebral bodies - Premature osteoarthritis - Proximal muscle weakness - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Talipes equinovarus - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple epiphyseal dysplasia +Is Multiple epiphyseal dysplasia inherited ?,"How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier.",GARD,Multiple epiphyseal dysplasia +What is (are) Subacute cerebellar degeneration ?,"Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.",GARD,Subacute cerebellar degeneration +What are the symptoms of Subacute cerebellar degeneration ?,"What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms. Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.",GARD,Subacute cerebellar degeneration +What causes Subacute cerebellar degeneration ?,"What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1",GARD,Subacute cerebellar degeneration +What are the symptoms of Ankylosis of teeth ?,"What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced number of teeth 90% Abnormality of dental enamel 50% Clinodactyly of the 5th finger 7.5% Mandibular prognathia 7.5% Abnormality of the teeth - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ankylosis of teeth +What are the symptoms of Panhypopituitarism X-linked ?,"What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Panhypopituitarism - Pituitary dwarfism - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Panhypopituitarism X-linked +What is (are) Familial exudative vitreoretinopathy ?,"Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.",GARD,Familial exudative vitreoretinopathy +Is Familial exudative vitreoretinopathy inherited ?,"How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.",GARD,Familial exudative vitreoretinopathy +What are the treatments for Familial exudative vitreoretinopathy ?,How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.,GARD,Familial exudative vitreoretinopathy +What are the symptoms of STING-associated vasculopathy with onset in infancy ?,"What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 5% Joint stiffness 5% Myalgia 5% Myositis 5% Anemia - Cutis marmorata - Elevated erythrocyte sedimentation rate - Erythema - Failure to thrive - Fever - Follicular hyperplasia - Growth delay - Increased antibody level in blood - Interstitial pulmonary disease - Leukopenia - Nail dystrophy - Pustule - Recurrent respiratory infections - Telangiectasia - Thrombocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,STING-associated vasculopathy with onset in infancy +What are the symptoms of Gastroschisis ?,"What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastroschisis 90% Abnormality of the mesentery 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gastroschisis +What is (are) Thiamine responsive megaloblastic anemia syndrome ?,"Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called ""thiamine-responsive"" because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by mutations in the SLC19A2 gene and is inherited in an autosomal recessive fashion.",GARD,Thiamine responsive megaloblastic anemia syndrome +What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ?,"What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thiamine responsive megaloblastic anemia syndrome +What is (are) De Barsy syndrome ?,"De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.",GARD,De Barsy syndrome +What are the symptoms of De Barsy syndrome ?,"What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cataract 90% Cognitive impairment 90% Cutis laxa 90% Hyperextensible skin 90% Hyperreflexia 90% Joint hypermobility 90% Muscular hypotonia 90% Opacification of the corneal stroma 90% Prematurely aged appearance 90% Short stature 90% Wide nasal bridge 90% Abnormality of adipose tissue 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Broad forehead 50% Macrotia 50% Abnormality of female external genitalia 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the hip bone 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Blue sclerae 7.5% Chorea 7.5% Flexion contracture 7.5% Genu recurvatum 7.5% Joint dislocation 7.5% Pectus excavatum 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Umbilical hernia 7.5% Cryptorchidism 5% Athetosis - Autosomal recessive inheritance - Brachycephaly - Congenital hip dislocation - Corneal arcus - Delayed skeletal maturation - Failure to thrive - Frontal bossing - Hypertelorism - Hypotelorism - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Large fontanelles - Low-set ears - Myopia - Narrow mouth - Narrow nasal ridge - Prominent forehead - Prominent superficial blood vessels - Seizures - Severe short stature - Sparse hair - Sporadic - Strabismus - Talipes equinovarus - Thin skin - Wide cranial sutures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,De Barsy syndrome +What are the symptoms of Atrial septal defect ostium primum ?,"What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Atrial septal defect ostium primum +What is (are) Centronuclear myopathy ?,"Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.",GARD,Centronuclear myopathy +What are the symptoms of Centronuclear myopathy ?,"What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Gait disturbance 90% Muscular hypotonia 90% Skeletal muscle atrophy 90% Arrhythmia 50% Mask-like facies 50% Ophthalmoparesis 50% Ptosis 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Centronuclear myopathy +What is (are) Tietze syndrome ?,"Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. The cause of this condition is unknown. In some cases, Tietze syndrome may resolve on its own without treatment. Management for others may include minimizing physical activity; applying local heat; and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.",GARD,Tietze syndrome +What are the symptoms of Tietze syndrome ?,"What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. More than 70% of cases occur on only one side (unilateral) and affect one joint. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist.",GARD,Tietze syndrome +What causes Tietze syndrome ?,What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition.,GARD,Tietze syndrome +Is Tietze syndrome inherited ?,Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.,GARD,Tietze syndrome +How to diagnose Tietze syndrome ?,"How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions.",GARD,Tietze syndrome +What are the treatments for Tietze syndrome ?,"How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. Although the pain usually subsides after several weeks or months, swelling may persist.",GARD,Tietze syndrome +What is (are) Medullary cystic kidney disease 1 ?,"Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.",GARD,Medullary cystic kidney disease 1 +What are the symptoms of Medullary cystic kidney disease 1 ?,"What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Medullary cystic kidney disease 1 +What is (are) Congenital muscular dystrophy ?,"Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Congenital muscular dystrophy +What are the symptoms of Salcedo syndrome ?,"What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Glomerulopathy 90% Hematuria 90% Hypertension 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Abnormality of the skeletal system - Autosomal recessive inheritance - Nephropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Salcedo syndrome +What is (are) Cluttering ?,"Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech.",GARD,Cluttering +What is (are) Lichen planus pigmentosus ?,"Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. Treatment for LPP is symptomatic.",GARD,Lichen planus pigmentosus +What are the symptoms of Lichen planus pigmentosus ?,"What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the skin findings of LPP are usually not associated with any additional symptoms, some affected people may experience mild itching and/or burning or develop other features of lichen planus. Please click here to learn more about the signs and symptoms that may be found in lichen planus. LPP usually affects young to middle-aged adults who have dark skin, especially those of Indian, Latin American, and the Middle Eastern descent.",GARD,Lichen planus pigmentosus +What causes Lichen planus pigmentosus ?,"What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i.e. mustard oil, amla oil).",GARD,Lichen planus pigmentosus +How to diagnose Lichen planus pigmentosus ?,How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis.,GARD,Lichen planus pigmentosus +What are the treatments for Lichen planus pigmentosus ?,How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat eczema) Skin lightening agents Laser therapy,GARD,Lichen planus pigmentosus +What are the symptoms of Fetal akinesia syndrome X-linked ?,"What are the signs and symptoms of Fetal akinesia syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal akinesia syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Arrhinencephaly - Blepharophimosis - Fetal akinesia sequence - Hypokinesia - Polyhydramnios - Stillbirth - Telecanthus - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fetal akinesia syndrome X-linked +"What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ?","What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the pinna - Agenesis of corpus callosum - Autosomal dominant inheritance - Brachycephaly - Brachydactyly syndrome - Cryptorchidism - Epicanthus - Failure to thrive - Holoprosencephaly - Intellectual disability, progressive - Intellectual disability, severe - Inverted nipples - Microcephaly - Micropenis - Monocytosis - Recurrent infections - Recurrent skin infections - Short finger - Short toe - Sloping forehead - Tapered finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Holoprosencephaly, recurrent infections, and monocytosis" +What is (are) Inclusion body myopathy 2 ?,"Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.",GARD,Inclusion body myopathy 2 +What are the symptoms of Inclusion body myopathy 2 ?,"What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal recessive inheritance - Deposits immunoreactive to beta-amyloid protein - Distal amyotrophy - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Gait disturbance - Limb-girdle muscle atrophy - Limb-girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Inclusion body myopathy 2 +What causes Inclusion body myopathy 2 ?,"What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2. Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition.",GARD,Inclusion body myopathy 2 +Is Inclusion body myopathy 2 inherited ?,"How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Inclusion body myopathy 2 +What are the treatments for Inclusion body myopathy 2 ?,"How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[5666] Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here.",GARD,Inclusion body myopathy 2 +What are the symptoms of Convulsions benign familial neonatal dominant form ?,"What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Generalized tonic-clonic seizures - Hypertonia - Normal interictal EEG - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Convulsions benign familial neonatal dominant form +What is (are) Konigsmark Knox Hussels syndrome ?,"Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion.",GARD,Konigsmark Knox Hussels syndrome +What are the symptoms of Konigsmark Knox Hussels syndrome ?,"What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Konigsmark Knox Hussels syndrome +What causes Konigsmark Knox Hussels syndrome ?,"What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals.",GARD,Konigsmark Knox Hussels syndrome +How to diagnose Konigsmark Knox Hussels syndrome ?,"Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Konigsmark Knox Hussels syndrome +What are the symptoms of Muscular fibrosis multifocal obstructed vessels ?,"What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cerebral calcification 90% Decreased antibody level in blood 90% Hepatomegaly 90% Limitation of joint mobility 90% Lipoatrophy 90% Skeletal muscle atrophy 90% Splenomegaly 90% Urticaria 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muscular fibrosis multifocal obstructed vessels +What is (are) Greig cephalopolysyndactyly syndrome ?,"Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.",GARD,Greig cephalopolysyndactyly syndrome +What are the symptoms of Greig cephalopolysyndactyly syndrome ?,"What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormally wide thumb or big toe (hallux), and the skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Greig cephalopolysyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 1-3 toe syndactyly 90% Macrocephaly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Broad hallux 89% Wide nasal bridge 79% High forehead 70% Frontal bossing 58% Abnormality of the nose 50% Accelerated skeletal maturation 50% Finger syndactyly 50% Hypertelorism 50% Telecanthus 50% Toe syndactyly 50% 3-4 finger syndactyly 33% Broad hallux phalanx 33% Broad thumb 33% Abnormal heart morphology 7.5% Abnormality of muscle fibers 7.5% Agenesis of corpus callosum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of toe 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Delayed cranial suture closure 7.5% Hirsutism 7.5% Hydrocephalus 7.5% Hyperglycemia 7.5% Hypospadias 7.5% Inguinal hernia 7.5% Intellectual disability, mild 7.5% Joint contracture of the hand 7.5% Postaxial foot polydactyly 7.5% Preaxial hand polydactyly 7.5% Seizures 7.5% Umbilical hernia 7.5% Metopic synostosis 5% Autosomal dominant inheritance - Dolichocephaly - Trigonocephaly - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Greig cephalopolysyndactyly syndrome +What causes Greig cephalopolysyndactyly syndrome ?,"What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of GCPS.",GARD,Greig cephalopolysyndactyly syndrome +Is Greig cephalopolysyndactyly syndrome inherited ?,"How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child.",GARD,Greig cephalopolysyndactyly syndrome +How to diagnose Greig cephalopolysyndactyly syndrome ?,"Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. How is Greig cephalopolysyndactyly syndrome diagnosed? Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include: an abnormally large head size (macrocephaly) greater than the 97th percentile widely spaced eyes (ocular hypertelorism) limb anomalies including extra fingers or toes (polydactyly) fused skin between the fingers and toes (cutaneous syndactyly) A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene.",GARD,Greig cephalopolysyndactyly syndrome +What are the treatments for Greig cephalopolysyndactyly syndrome ?,"How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present. Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. This fluid is cerebrospinal fluid (CSF) - a clear fluid that surrounds the brain and spinal cord. Excess CSF builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. This excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. Treatment of hydrocephalus often includes surgical insertion of a shunt system-in which a catheters (tubes) are surgically placed behind both ears. A valve (fluid pump) is placed underneath the skin behind the ear and is connected to both catheters. When extra pressure builds up around the brain, the valve opens, and excess fluid drains through the catheter. This helps lower pressure within the skull (intracranial pressure).",GARD,Greig cephalopolysyndactyly syndrome +What is (are) Kienbock's disease ?,"Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended.",GARD,Kienbock's disease +What are the symptoms of Kienbock's disease ?,"What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. Rarely, the condition may occur in both hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Kienbock's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Arthralgia 90% Aseptic necrosis 90% Bone pain 90% Limitation of joint mobility 90% Osteoarthritis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kienbock's disease +Is Kienbock's disease inherited ?,"Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.",GARD,Kienbock's disease +What are the treatments for Kienbock's disease ?,"What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.",GARD,Kienbock's disease +What are the symptoms of Mehes syndrome ?,"What are the signs and symptoms of Mehes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mehes syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% External ear malformation 90% Facial asymmetry 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Ptosis 90% Strabismus 90% Abnormality of the palate 50% Cognitive impairment 50% Long philtrum 50% Anteverted nares 7.5% Anterior creases of earlobe - Autosomal dominant inheritance - Delayed speech and language development - Low-set ears - Specific learning disability - Unilateral narrow palpebral fissure - Unilateral ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mehes syndrome +What is (are) Late-Onset Familial Alzheimer Disease ?,"Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibility genes (such as the APOE e4 allele) in combination with environmental and lifestyle factors. Although complex conditions do tend to cluster in families, they do not follow a clear-cut pattern of inheritance. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Late-Onset Familial Alzheimer Disease +"What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ?","What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral calcification 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Cryptorchidism 90% Hemiplegia/hemiparesis 90% Hernia of the abdominal wall 90% Hydrocephalus 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Strabismus 90% Ventriculomegaly 90% Abnormality of the palate 50% Behavioral abnormality 50% Gait disturbance 50% Scoliosis 50% Short philtrum 50% Decreased body weight 7.5% Hearing abnormality 7.5% Increased bone mineral density 7.5% Joint hypermobility 7.5% Long face 7.5% Optic atrophy 7.5% Dandy-Walker malformation 5% Abnormality of the basal ganglia - Choreoathetosis - Coarse facial features - Deeply set eye - Flexion contracture - Gait ataxia - High-frequency hearing impairment - Hyperreflexia - Intellectual disability - Mandibular prognathia - Prominent forehead - Prominent nose - Seizures - Self-injurious behavior - Sensorineural hearing impairment - Spasticity - Thick vermilion border - Wide mouth - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" +What is (are) Char syndrome ?,"Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.",GARD,Char syndrome +What are the symptoms of Char syndrome ?,"What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Depressed nasal bridge 90% Depressed nasal ridge 90% Hypertelorism 90% Malar flattening 90% Patent ductus arteriosus 90% Ptosis 90% Short philtrum 90% Thick lower lip vermilion 90% Clinodactyly of the 5th finger 50% Cognitive impairment 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Hearing impairment 7.5% Myopia 7.5% Prominent occiput 7.5% Reduced consciousness/confusion 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Supernumerary nipple 7.5% Symphalangism affecting the phalanges of the hand 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Distal/middle symphalangism of 5th finger - Highly arched eyebrow - Intellectual disability, mild - Low-set ears - Protruding ear - Thick eyebrow - Triangular mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Char syndrome +What are the symptoms of Sabinas brittle hair syndrome ?,"What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nail dystrophy 5% Autosomal recessive inheritance - Brittle hair - Dry hair - Hypotrichosis - Intellectual disability - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sabinas brittle hair syndrome +What is (are) Mitochondrial DNA-associated Leigh syndrome ?,"Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.",GARD,Mitochondrial DNA-associated Leigh syndrome +What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ?,"What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Respiratory insufficiency 90% Strabismus 90% Ophthalmoparesis 50% Optic atrophy 50% Seizures 50% Abnormal pattern of respiration - Ataxia - Autosomal recessive inheritance - CNS demyelination - Dysarthria - Dystonia - Emotional lability - Failure to thrive - Hepatocellular necrosis - Heterogeneous - Hyperreflexia - Hypertrichosis - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lactic acidosis - Mitochondrial inheritance - Ophthalmoplegia - Phenotypic variability - Pigmentary retinopathy - Progressive - Ptosis - Respiratory failure - Sensorineural hearing impairment - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial DNA-associated Leigh syndrome +What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern.",GARD,Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Abnormality of extrapyramidal motor function - Alopecia - Arteriosclerosis of small cerebral arteries - Ataxia - Autosomal recessive inheritance - Babinski sign - Dementia - Diffuse demyelination of the cerebral white matter - Diffuse white matter abnormalities - Dysarthria - Gait disturbance - Hyperreflexia - Low back pain - Progressive encephalopathy - Pseudobulbar signs - Rigidity - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +What is (are) Unverricht-Lundborg disease ?,"Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern.",GARD,Unverricht-Lundborg disease +What are the symptoms of Unverricht-Lundborg disease ?,"What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Ataxia - Autosomal recessive inheritance - Dysarthria - Generalized tonic-clonic seizures - Mental deterioration - Myoclonus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Unverricht-Lundborg disease +What is (are) Coffin-Siris syndrome ?,"Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.",GARD,Coffin-Siris syndrome +What are the symptoms of Coffin-Siris syndrome ?,"What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes Missing pinky fingernails or toenails Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge Extra hair growth on the face and body Sparse scalp hair Other symptoms that have been described in infants and children with Coffin-Siris syndrome include: Small head size Frequent respiratory infections in infancy Feeding difficulty in infancy Failure to thrive Short stature Low muscle tone Loose joints Eye abnormalities Heart abnormalities Brain abnormalities Kidney abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Anonychia 90% Coarse facial features 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hypertrichosis 90% Microcephaly 90% Muscular hypotonia 90% Short distal phalanx of finger 90% Short stature 90% Slow-growing hair 90% Thick eyebrow 90% Thick lower lip vermilion 90% Aplasia/Hypoplasia of the cerebellum 50% Cryptorchidism 50% Dandy-Walker malformation 50% Depressed nasal bridge 50% Depressed nasal ridge 50% Elbow dislocation 50% Hearing impairment 50% Intrauterine growth retardation 50% Joint hypermobility 50% Nystagmus 50% Patellar aplasia 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Strabismus 50% Wide mouth 50% Abnormal localization of kidney 7.5% Abnormality of the clavicle 7.5% Abnormality of the hip bone 7.5% Abnormality of the intervertebral disk 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplastic/hypoplastic toenail 7.5% Cataract 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Cutis marmorata 7.5% Epicanthus 7.5% Kyphosis 7.5% Lacrimation abnormality 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Spina bifida occulta 7.5% Aggressive behavior - Aplasia of the uterus - Aplasia/Hypoplasia of the patella - Astigmatism - Atria septal defect - Autistic behavior - Autosomal recessive inheritance - Broad nasal tip - Choanal atresia - Coxa valga - Delayed eruption of teeth - Delayed skeletal maturation - Dislocated radial head - Duodenal ulcer - Ectopic kidney - Facial hypertrichosis - Gastric ulcer - Hemangioma - High palate - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplastic fifth fingernail - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability - Intestinal malrotation - Intussusception - Joint laxity - Long eyelashes - Lumbosacral hirsutism - Myopia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Postnatal growth retardation - Preauricular skin tag - Renal hypoplasia - Sacral dimple - Severe expressive language delay - Short distal phalanx of the 5th finger - Short distal phalanx of the 5th toe - Short sternum - Sparse scalp hair - Tetralogy of Fallot - Umbilical hernia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Coffin-Siris syndrome +What causes Coffin-Siris syndrome ?,"What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell. Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown.",GARD,Coffin-Siris syndrome +How to diagnose Coffin-Siris syndrome ?,"How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. You can find detailed information on this topic at the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome.",GARD,Coffin-Siris syndrome +What are the treatments for Coffin-Siris syndrome ?,"How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists.",GARD,Coffin-Siris syndrome +What is (are) Familial hemiplegic migraine type 2 ?,"Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.",GARD,Familial hemiplegic migraine type 2 +What are the symptoms of Familial hemiplegic migraine type 2 ?,"What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hemiplegic migraine type 2 +What are the treatments for Familial hemiplegic migraine type 2 ?,"How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.",GARD,Familial hemiplegic migraine type 2 +"What are the symptoms of Mental retardation syndrome, Belgian type ?","What are the signs and symptoms of Mental retardation syndrome, Belgian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation syndrome, Belgian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the testis 90% Cognitive impairment 90% Deeply set eye 90% Eunuchoid habitus 90% Long face 90% Long thorax 90% Mandibular prognathia 90% Narrow chest 90% Narrow nasal bridge 90% Type I diabetes mellitus 90% Muscular hypotonia 50% Seizures 50% Skeletal muscle atrophy 50% Autosomal recessive inheritance - Cleft ala nasi - Diabetes mellitus - Hypergonadotropic hypogonadism - Intellectual disability, moderate - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mental retardation syndrome, Belgian type" +What is (are) Lujan syndrome ?,"Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.",GARD,Lujan syndrome +What are the symptoms of Lujan syndrome ?,"What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lujan syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 1C ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hypertrophic nerve changes - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1C +What is (are) Polycystic kidney disease ?,"Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance: (1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause. (2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.",GARD,Polycystic kidney disease +What are the symptoms of Polycystic kidney disease ?,"What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture. The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Polycystic kidney dysplasia 90% Anemia 50% Cystic liver disease 50% Hematuria 50% Hypertension 50% Nephrolithiasis 50% Proteinuria 50% Renal insufficiency 50% Abnormality of prenatal development or birth 7.5% Abnormality of the pancreas 7.5% Abnormality of the respiratory system 7.5% Aneurysm 7.5% Dilatation of the ascending aorta 7.5% Hydrocephalus 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sarcoma 7.5% Autosomal dominant inheritance - Cerebral aneurysm - Colonic diverticula - Hepatic cysts - Heterogeneous - Increased prevalence of valvular disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polycystic kidney disease +What is (are) Microcephaly ?,"Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life.",GARD,Microcephaly +What are the symptoms of Scott Bryant Graham syndrome ?,"What are the signs and symptoms of Scott Bryant Graham syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scott Bryant Graham syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Coarse hair 90% Cognitive impairment 90% Finger syndactyly 90% Hypertrichosis 90% Narrow nasal bridge 90% Short nose 90% Short stature 90% Thick eyebrow 90% Spina bifida occulta 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scott Bryant Graham syndrome +What are the symptoms of Graham-Cox syndrome ?,"What are the signs and symptoms of Graham-Cox syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham-Cox syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Conductive hearing impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Nystagmus 90% Pectus excavatum 90% Scoliosis 90% Sensorineural hearing impairment 90% Short neck 90% Short stature 90% Choanal atresia 50% Cleft palate 50% Iris coloboma 50% Patent ductus arteriosus 50% Prominent nasal bridge 50% Ventricular septal defect 50% Agenesis of corpus callosum - Broad neck - Cupped ear - High palate - Intellectual disability - Low-set ears - Optic nerve coloboma - Retrognathia - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Graham-Cox syndrome +What is (are) Polydactyly ?,"Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity. [1] [2]",GARD,Polydactyly +What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ?,"Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes (mutations) in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Hypotrichosis-lymphedema-telangiectasia syndrome +What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ?,"What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Edema of the lower limbs 90% Lymphangioma 90% Abnormality of the eye 50% Cutis marmorata 50% Periorbital edema 50% Vaginal hernia 50% Venous insufficiency 50% Abnormality of the peritoneum 7.5% Abnormality of the pleura 7.5% Hydrops fetalis 7.5% Abnormality of the nail - Abnormality of the teeth - Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Autosomal recessive inheritance - Hydrocele testis - Hypotrichosis - Nonimmune hydrops fetalis - Palmar telangiectasia - Predominantly lower limb lymphedema - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypotrichosis-lymphedema-telangiectasia syndrome +What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ?,"What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypoparathyroidism-retardation-dysmorphism syndrome +What is (are) Primary lateral sclerosis ?,"Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. The symptoms worsen gradually over time, however people with this condition have a normal life expectancy. Progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. Diagnosis requires extensive testing to exclude other diseases. Treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required.",GARD,Primary lateral sclerosis +What are the symptoms of Primary lateral sclerosis ?,"What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, begins in early childhood. PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). However, primary lateral sclerosis progresses more slowly than ALS, and in most cases is not considered fatal. Signs and symptoms of PLS typically take years to progress. The hallmark of PLS is progressive weakness and spasticity of voluntary muscles. The first symptoms are often tripping or difficulty lifting the legs. Other people may be the first to notice a change in the affected person's gait. Occasionally, speaking (dysarthria) and swallowing (dysphasia) difficulties, or arm weakness are the first symptoms. Speech problems can begin with hoarseness, a reduced rate of speaking, excessive clearing of the throat, or slurred speech when a person is tired. In some cases, speech becomes so slurred that others cannot understand it. Drooling can be a problem as well due to weakened bulbar muscles. Many people report painful muscle spasms and other pain. Other common symptoms may include hyperactive reflexes and Babinkski's sign. Wherever symptoms originate, the legs, arms, hands, and speech and swallowing muscles are eventually affected. As the disease progresses, assistive devices such as canes, walkers or wheelchairs are typically needed. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal upper motor neuron morphology - Adult onset - Autosomal dominant inheritance - Babinski sign - Dysphagia - Hyperreflexia - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary lateral sclerosis +How to diagnose Primary lateral sclerosis ?,"How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other diseases. After taking a careful record of an individual's medical history and performing a complete neurological examination, a doctor may order the following tests: Blood work. Blood tests are done to check for infections or other possible causes of muscle weakness. Magnetic resonance imaging (MRI) of the brain and spine. An MRI or other imaging tests may reveal signs of nerve cell degeneration and look for other causes of symptoms, such as structural abnormalities, spinal cord compression, multiple sclerosis and spinal cord tumors. Motor and sensory nerve conduction studies. These tests use a low amount of electrical current to test how quickly the nerves carry impulses through the body, and can indicate damage to nerve cells. Electromyogram (EMG). During this test, the doctor inserts a needle electrode through the skin into various muscles. The electrical activity of the muscles is evaluated when they contract and when they're at rest. This test can measure the involvement of lower motor neurons, which can help to differentiate between PLS and ALS. Cerebrospinal fluid (CSF) analysis. An analysis of the CSF, which is taken during a lumbar puncture in the lower back, can help to rule out multiple sclerosis and other causes of spasticity. After other diseases are ruled out, a doctor may make a preliminary diagnosis of PLS. Sometimes doctors wait three to four years before being sure of the diagnosis, because early ALS can look just like PLS until additional symptoms surface a few years later.",GARD,Primary lateral sclerosis +What is (are) Neuronal ceroid lipofuscinosis 10 ?,"Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Neuronal ceroid lipofuscinosis 10 +What are the symptoms of Neuronal ceroid lipofuscinosis 10 ?,"What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microcephaly 90% Respiratory insufficiency 90% Seizures 90% Abnormality of metabolism/homeostasis - Apnea - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Congenital onset - Increased neuronal autofluorescent lipopigment - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Neuronal loss in central nervous system - Premature closure of fontanelles - Respiratory failure - Retinal atrophy - Rigidity - Rod-cone dystrophy - Sloping forehead - Spasticity - Status epilepticus - Visual loss - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuronal ceroid lipofuscinosis 10 +What is (are) WaterhouseFriderichsen syndrome ?,"WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately.",GARD,WaterhouseFriderichsen syndrome +What are the symptoms of WaterhouseFriderichsen syndrome ?,"What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain). A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.",GARD,WaterhouseFriderichsen syndrome +What causes WaterhouseFriderichsen syndrome ?,"What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.",GARD,WaterhouseFriderichsen syndrome +What are the treatments for WaterhouseFriderichsen syndrome ?,How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive.,GARD,WaterhouseFriderichsen syndrome +What are the symptoms of Tucker syndrome ?,"What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Hemiplegia/hemiparesis 90% Laryngomalacia 90% Ptosis 90% Premature birth 50% Short stature 50% Autosomal dominant inheritance - Bilateral ptosis - Vocal cord paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tucker syndrome +What are the symptoms of Leiner disease ?,"What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Complement deficiency - Generalized seborrheic dermatitis - Intractable diarrhea - Recurrent infections - Recurrent meningitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leiner disease +What are the symptoms of Spondylometaphyseal dysplasia X-linked ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Anteverted nares - Coarse facial features - Depressed nasal bridge - Enlarged joints - Hip contracture - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability, mild - Knee flexion contracture - Kyphosis - Neurological speech impairment - Nystagmus - Pectus carinatum - Platyspondyly - Respiratory failure - Sclerosis of skull base - Severe short stature - Spondylometaphyseal dysplasia - Strabismus - Tapered finger - Thoracolumbar scoliosis - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia X-linked +What is (are) Neurocutaneous melanosis ?,"Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.",GARD,Neurocutaneous melanosis +What are the symptoms of Neurocutaneous melanosis ?,"What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Melanocytic nevus 90% Seizures 90% Thickened skin 90% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Arnold-Chiari malformation 7.5% Behavioral abnormality 7.5% Chorioretinal coloboma 7.5% Cranial nerve paralysis 7.5% Dandy-Walker malformation 7.5% EEG abnormality 7.5% Encephalitis 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Melanoma 7.5% Meningocele 7.5% Renal hypoplasia/aplasia 7.5% Syringomyelia 7.5% Thrombophlebitis 7.5% Arachnoid cyst 5% Choroid plexus papilloma 5% Hydrocephalus 5% Meningioma 5% Death in infancy - Mental deterioration - Numerous congenital melanocytic nevi - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neurocutaneous melanosis +What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ?,"Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.",GARD,Alpha-thalassemia x-linked intellectual disability syndrome +What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ?,"What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alpha-thalassemia x-linked intellectual disability syndrome +Is Alpha-thalassemia x-linked intellectual disability syndrome inherited ?,"How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.",GARD,Alpha-thalassemia x-linked intellectual disability syndrome +What are the symptoms of Crandall syndrome ?,"What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Pili torti 90% Sensorineural hearing impairment 90% Abnormality of the eye 50% Abnormality of the testis 50% Fine hair 50% Hypoplasia of penis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Crandall syndrome +What is (are) Bladder cancer ?,"Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.",GARD,Bladder cancer +What are the symptoms of Bladder cancer ?,"What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Transitional cell carcinoma of the bladder - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bladder cancer +What are the symptoms of Renal dysplasia diffuse cystic ?,"What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal dysplasia diffuse cystic +What is (are) CADASIL ?,"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.",GARD,CADASIL +What are the symptoms of CADASIL ?,"What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is the second most common feature and occurs in over half of affected people. This may begin as early as 35 years of age. CADASIL typically causes a slow decline in thought processes, and approximately 75% of affected people eventually develop dementia (including significant difficulty with reasoning and memory). Thirty percent of people with CADASIL also experience psychiatric issues, varying from personality changes to severe depression. Migraines with aura occur in about 35% of people with CADASIL, with the first attack occurring at an average age of 26 years. Epilepsy is present in 10% of affected people and usually presents at middle age. The Human Phenotype Ontology provides the following list of signs and symptoms for CADASIL. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the retinal vasculature 90% Amaurosis fugax 90% Behavioral abnormality 90% Developmental regression 90% Hemiplegia/hemiparesis 90% Migraine 90% Neurological speech impairment 90% Reduced consciousness/confusion 90% Cerebral cortical atrophy 50% Cerebral ischemia 50% Cranial nerve paralysis 50% EEG abnormality 50% Gait disturbance 50% Hypertonia 50% Memory impairment 50% Visual impairment 50% Abnormality of extrapyramidal motor function 7.5% Atherosclerosis 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoglycemia 7.5% Intracranial hemorrhage 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Venous insufficiency 7.5% Visual loss 5% Abnormal electroretinogram - Abnormality of the skin - Abnormality of visual evoked potentials - Adult onset - Autosomal dominant inheritance - Leukoencephalopathy - Nonarteritic anterior ischemic optic neuropathy - Pseudobulbar paralysis - Recurrent subcortical infarcts - Stroke - Subcortical dementia - Urinary incontinence - Varicose veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CADASIL +What causes CADASIL ?,"What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.",GARD,CADASIL +Is CADASIL inherited ?,"How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.",GARD,CADASIL +What are the treatments for CADASIL ?,"How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.",GARD,CADASIL +What is (are) Cold agglutinin disease ?,"Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause.",GARD,Cold agglutinin disease +What are the symptoms of Cold agglutinin disease ?,"What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). The antibodies then activate other components of the blood, which eventually causes red blood cells to be prematurely destroyed. As the number or red blood cells drop, affected people typically experience anemia, which may be associated with pallor, weakness, fatigue, irritability, headaches, and/or dizziness. Other signs and symptoms of cold agglutinin disease vary, but may include: Painful fingers and toes with purplish discoloration Abnormal behavior Amenorrhea Gastrointestinal issues Dark urine Enlargement of the spleen Jaundice Heart failure Shock The Human Phenotype Ontology provides the following list of signs and symptoms for Cold agglutinin disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Autoimmunity 90% Hemolytic anemia 90% Muscle weakness 90% Pallor 90% Abnormality of urine homeostasis 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Lymphadenopathy 7.5% Migraine 7.5% Nausea and vomiting 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cold agglutinin disease +What causes Cold agglutinin disease ?,"What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C Parasitic infections such as malaria or trypanosomiasis Other autoimmune diseases such as systemic lupus erythematosus Certain types of cancers such as lymphoma, chronic lymphocytic leukemia, Waldenstrm macroglobulinemia, multiple myeloma, and Kaposi sarcoma",GARD,Cold agglutinin disease +Is Cold agglutinin disease inherited ?,"Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes likely interact to predispose a person to developing the condition. However, to our knowledge, no disease-causing genes have been identified and no familial cases have been reported.",GARD,Cold agglutinin disease +How to diagnose Cold agglutinin disease ?,"How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. In most cases, the diagnosis is based on evidence of hemolytic anemia (from symptoms and/or blood tests). A person may also be physically examined for spleen or liver enlargement. An antiglobulin test (called the Coombs test) may be performed to determine the presence of a specific type of antibody. In people with cold agglutinin disease, the Coomb's test is almost always positive for immunoglobulin M (IgM). Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's Web site. Please click on the link to access this resource.",GARD,Cold agglutinin disease +What are the treatments for Cold agglutinin disease ?,"How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnose and treat the underlying condition which may include certain types of cancer; bacterial, viral, or parasitic infections; and/or other autoimmune disease. People with few symptoms and/or mild anemia may not require any specific treatment. These cases are often managed by simply avoiding exposure to the cold. In severe cases, medical interventions may be necessary. Rituximab (an antibody that selectively reduces specific types of immune cells) may be recommended either alone or in combination with other medications for people with severe hemolysis. Plasmapheresis, which involves filtering blood to remove antibodies, and/or blood transfusions may be an option for temporary relief of severe symptoms. Other therapies exist; however, they have been used with variable success. Medscape Reference's Web site offers more specific information about these alternative treatments. Please click on the link to access this resource.",GARD,Cold agglutinin disease +What is (are) Bietti crystalline corneoretinal dystrophy ?,"Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.",GARD,Bietti crystalline corneoretinal dystrophy +What are the symptoms of Bietti crystalline corneoretinal dystrophy ?,"What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Severe Myopia 5% Abnormality of blood and blood-forming tissues - Autosomal recessive inheritance - Chorioretinal atrophy - Constriction of peripheral visual field - Marginal corneal dystrophy - Progressive night blindness - Progressive visual loss - Retinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bietti crystalline corneoretinal dystrophy +What is (are) Yellow nail syndrome ?,"Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of this condition is unknown, it has been shown to run in some families, which suggests that there may be a genetic component in some cases. Unfortunately, there is no cure for this condition, but there are therapies available to treat the related lung diseases and lymphedema.",GARD,Yellow nail syndrome +What are the symptoms of Yellow nail syndrome ?,"What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of nail color 90% Abnormality of the bronchi 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Lymphedema 90% Abnormality of the pleura 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Sinusitis 50% Neoplasm 7.5% Abnormality of the musculature - Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - Slow-growing nails - Yellow nails - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Yellow nail syndrome +What causes Yellow nail syndrome ?,"Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.",GARD,Yellow nail syndrome +What are the treatments for Yellow nail syndrome ?,"How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html",GARD,Yellow nail syndrome +What is (are) Myocarditis ?,"Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.",GARD,Myocarditis +What are the symptoms of Cryptomicrotia brachydactyly syndrome ?,"What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cryptomicrotia brachydactyly syndrome +"What are the symptoms of Epilepsy, benign occipital ?","What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EEG abnormality - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epilepsy, benign occipital" +What is (are) Cutaneous mastocytosis ?,"Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.",GARD,Cutaneous mastocytosis +What are the symptoms of Cutaneous mastocytosis ?,"What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. Maculopapular cutaneous mastocytosis, the most common form of cutaneous mastocytosis, is characterized by itchy, brown patches on the skin. Although these patches may be mistaken for freckles or bug bites initially, they typically persist and gradually increase in number over several months to years. In young children, the patches may form a blister if itched or rubbed. Itching may worsen with changes in temperature, strenuous activity, emotional stress, and/or certain medications. Maculopapular cutaneous mastocytosis is most commonly seen in infants and young children and often fades by the teenaged years. In some cases, this condition may not develop until adulthood. These later onset cases generally last long-term and are more likely to progress to systemic mastocytosis. Solitary cutaneous mastocytoma is a localized form of cutaneous mastocytosis. Like maculopapular cutaneous mastocytosis, this form is typically diagnosed in young children. However, it is characterized by an itchy area of reddish or brown skin that is often thickened. When itched, these patches of skin may swell, redden, and/or blister. This form typically resolves spontaneously with age. Diffuse cutaneous mastocytosis, the most severe form of cutaneous mastocytosis, usually develops in infancy. Unlike the other forms of cutaneous mastocytosis, it affects most or all of the skin rather than appearing as distinct patches. In people affected by this condition, the skin is leathery and thickened. It may appear normal, yellowish-brown, or red in color. In some cases, there may also be widespread blistering. Additional symptoms may include hypotension, diarrhea, gastrointestinal bleeding, reddening of the skin (flushing), and anaphylactic shock. The rarest form of cutaneous mastocytosis is called telangiectasia macularis eruptiva perstans. Unlike the other forms of cutaneous mastocytosis, this form is primarily diagnosed in adults and is generally not associated with pruritus and blistering. People affected by this condition have persistent brown patches of skin and extensive telegiactasia. Rarely, this form may progress to systemic mastocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Abdominal pain 50% Abnormal blistering of the skin 50% Abnormal renal physiology 7.5% Asthma 7.5% Behavioral abnormality 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Hypercalcemia 7.5% Hypotension 7.5% Impaired temperature sensation 7.5% Increased bone mineral density 7.5% Leukemia 7.5% Malabsorption 7.5% Migraine 7.5% Nausea and vomiting 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Splenomegaly 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cutaneous mastocytosis +What causes Cutaneous mastocytosis ?,"What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Certain mutations in the KIT gene can leads to an overproduction of mast cells. In cutaneous mastocytosis, excess mast cells accumulate in the skin, leading to the many signs and symptoms of the condition.",GARD,Cutaneous mastocytosis +Is Cutaneous mastocytosis inherited ?,"Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are not present in the germ cells (egg and sperm), they are not passed on to the next generation. Cutaneous mastocytosis can rarely affect more than one family member. In these cases, the condition is typically inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. A person with familial cutaneous mastocytosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Cutaneous mastocytosis +How to diagnose Cutaneous mastocytosis ?,"How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. Unfortunately it can sometimes be difficult to differentiate cutaneous mastocytosis from systemic mastocytosis. Additional tests may, therefore, be ordered to further investigate the risk for systemic disease. A bone marrow biopsy and specialized blood tests may be recommended in adults with cutaneous mastocytosis since they are at a higher risk for systemic mastocytosis. Affected children typically do not undergo a bone marrow biopsy unless blood tests are abnormal.",GARD,Cutaneous mastocytosis +What are the treatments for Cutaneous mastocytosis ?,"How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as oral antihistamines and topical steroids are often prescribed to relieve symptoms. Affected adults may also undergo photochemotherapy which can help alleviate itching and improve the appearance of the patches; however, the condition is likely to recur within six to twelve months of the last treatment. People at risk for anaphylactic shock and/or their caregivers should be trained in how to recognize and treat this life-threatening reaction and should carry an epinephrine autoinjector at all times.",GARD,Cutaneous mastocytosis +What is (are) Severe combined immunodeficiency ?,"Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two.",GARD,Severe combined immunodeficiency +Is Severe combined immunodeficiency inherited ?,"How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes and males have one X chromosome and one Y chromosome. In males, one mutated copy of the responsible gene causes signs and symptoms of the condition because they don't have another X chromosome with a working copy of the gene. In females, having one mutated copy of the gene would make them an unaffected carrier; a mutation would have to occur in both copies of the gene to cause the condition. This is why X-linked recessive disorders, including X-linked SCID, occur much more frequently in males. Because fathers only pass their Y chromosome on to their sons, fathers cannot pass X-linked conditions on to their sons. The other, less common causes of SCID are inherited in an autosomal recessive manner. These types are due to mutations in responsible genes on other chromosomes (not the sex chromosomes). In autosomal recessive conditions, a person must have mutations in both copies of the responsible gene in order to have signs or symptoms of the condition. In most cases, the affected person inherits one mutated copy of the gene from each of the parents, who are typically unaffected carriers.",GARD,Severe combined immunodeficiency +How to diagnose Severe combined immunodeficiency ?,"How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibiotic treatment for two or more months Failure to gain weight or grow normally Infections that require intravenous antibiotic treatment Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver Persistent thrush in the mouth or throat A family history of immune deficiency or infant deaths due to infections Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies. For further details on diagnosis see the following Web pages: The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page. An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free.",GARD,Severe combined immunodeficiency +What are the symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ?,"What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Attention deficit hyperactivity disorder 50% Autism 50% Muscular hypotonia 50% Neurological speech impairment 50% Seizures 50% Strabismus 50% Abnormality of the mouth 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Deeply set eye 7.5% Frontal bossing 7.5% Incoordination 7.5% Long face 7.5% Macrotia 7.5% Ventriculomegaly 7.5% Cerebellar hypoplasia - Delayed speech and language development - Disorganization of the anterior cerebellar vermis - Enlarged cisterna magna - Gait ataxia - Hyperactivity - Hypotelorism - Infantile onset - Intellectual disability - Long nose - Macrocephaly - Mandibular prognathia - Micropenis - Microphallus - Nystagmus - Prominent forehead - Prominent supraorbital ridges - Retrocerebellar cyst - Scrotal hypoplasia - Short philtrum - Spasticity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance +What are the symptoms of Rutherfurd syndrome ?,"What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed eruption of teeth 90% Gingival overgrowth 90% Opacification of the corneal stroma 90% Reduced number of teeth 90% Behavioral abnormality 50% Cognitive impairment 50% Autosomal dominant inheritance - Corneal dystrophy - Delayed eruption of primary teeth - Failure of eruption of permanent teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rutherfurd syndrome +What is (are) Hereditary sensory and autonomic neuropathy ?,"Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function.[9873] HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner.",GARD,Hereditary sensory and autonomic neuropathy +What is (are) Pulmonary vein stenosis ?,"Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs.",GARD,Pulmonary vein stenosis +What are the symptoms of Pulmonary vein stenosis ?,"What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary vein stenosis +What is (are) Spondyloepiphyseal dysplasia Maroteaux type ?,"Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by mutations in the TRPV4 gene and is inherited any an autosomal dominant fashion.",GARD,Spondyloepiphyseal dysplasia Maroteaux type +What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ?,"What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal dominant inheritance - Genu valgum - Platyspondyly - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepiphyseal dysplasia Maroteaux type +What is (are) Vein of Galen aneurysm ?,"Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.",GARD,Vein of Galen aneurysm +What are the symptoms of Vein of Galen aneurysm ?,"What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vein of Galen aneurysm +What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ?,"What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectodermal dysplasia with natal teeth Turnpenny type +What is (are) Castleman disease ?,"Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a ""localized"" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a ""systemic"" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.",GARD,Castleman disease +What causes Castleman disease ?,"What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6.",GARD,Castleman disease +Is Castleman disease inherited ?,"Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.",GARD,Castleman disease +What is (are) Generalized pustular psoriasis ?,"Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.",GARD,Generalized pustular psoriasis +What are the symptoms of Generalized pustular psoriasis ?,"What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cholangitis 5% Furrowed tongue 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal recessive inheritance - Erythema - Fever - Parakeratosis - Psoriasis - Pustule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Generalized pustular psoriasis +What is (are) Schnitzler syndrome ?,"Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.",GARD,Schnitzler syndrome +What are the symptoms of Schnitzler syndrome ?,"What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen Bone pain Blood abnormalities Muscle aches Fatigue Weight loss People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Schnitzler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal immunoglobulin level 90% Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Bone pain 90% Hepatomegaly 90% Increased bone mineral density 90% Lymphadenopathy 90% Myalgia 90% Splenomegaly 90% Urticaria 90% Anemia 50% Leukocytosis 50% Lymphoma 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schnitzler syndrome +What causes Schnitzler syndrome ?,"What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.",GARD,Schnitzler syndrome +How to diagnose Schnitzler syndrome ?,"How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.",GARD,Schnitzler syndrome +What are the treatments for Schnitzler syndrome ?,How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-1 receptor antagonists (medications that inhibit the cytokine IL-1) Colchicine Dapsone Thalidomide Rituximab Some studies suggest that phototherapy may improve the rash in some affected people. Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.,GARD,Schnitzler syndrome +What is (are) Variant Creutzfeldt-Jakob disease ?,"There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.",GARD,Variant Creutzfeldt-Jakob disease +What are the symptoms of Athabaskan brainstem dysgenesis ?,"What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Athabaskan brainstem dysgenesis +What is (are) Dravet syndrome ?,"Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.",GARD,Dravet syndrome +What are the symptoms of Dravet syndrome ?,"What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dravet syndrome +What is (are) Cat scratch disease ?,"Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.",GARD,Cat scratch disease +What are the symptoms of Cat scratch disease ?,"What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.",GARD,Cat scratch disease +What is (are) ADCY5-related dyskinesia ?,"ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.",GARD,ADCY5-related dyskinesia +What are the symptoms of ADCY5-related dyskinesia ?,"What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ADCY5-related dyskinesia +What are the symptoms of Pillay syndrome ?,"What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pillay syndrome +What are the symptoms of Familial dilated cardiomyopathy ?,"What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrophic cardiomyopathy 90% Abnormality of neutrophils 7.5% EMG abnormality 7.5% Lipoatrophy 7.5% Myopathy 7.5% Palmoplantar keratoderma 7.5% Sensorineural hearing impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial dilated cardiomyopathy +What is (are) Congenital central hypoventilation syndrome ?,"Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.",GARD,Congenital central hypoventilation syndrome +What are the symptoms of Congenital central hypoventilation syndrome ?,"What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Apnea 90% Respiratory insufficiency 90% Short stature 90% Strabismus 90% Cognitive impairment 50% Muscular hypotonia 50% Seizures 50% Neuroblastoma 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Sensorineural hearing impairment 7.5% Abnormality of temperature regulation - Abnormality of the cardiovascular system - Abnormality of the mouth - Autosomal dominant inheritance - Central hypoventilation - Constipation - Feeding difficulties - Ganglioneuroblastoma - Ganglioneuroma - Hyperhidrosis - Low-set ears - Posteriorly rotated ears - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital central hypoventilation syndrome +Is Congenital central hypoventilation syndrome inherited ?,"How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CCHS can be complex. Most people with CCHS have a new (de novo) mutation in the responsible gene (the PHOX2B gene). De novo mutations occur for the first time in the affected person and are not inherited from a parent. Some people with CCHS have a parent with the condition, and inherit the mutation from that parent. In some cases, an asymptomatic parent of a person with symptoms has a PHOX2B mutation in some of their germ cells (egg or sperm cells, not body cells). This is called germline mosaicism. Some of these parents also have a PHOX2B mutation in some of their body cells. This is called somatic mosaicism. Germline mosaicism with or without somatic mosaicism is present in about 25% of asymptomatic parents of people with CCHS. Parents with mosaicism should have a comprehensive assessment to determine if any features of CCHS are present. It is also recommended that parents of a person with a presumed de novo mutation have genetic testing for the presence of the mutation, including testing that detects mosaicism at low levels.",GARD,Congenital central hypoventilation syndrome +What are the symptoms of Spastic paraplegia 10 ?,"What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Parkinsonism 5% Ankle clonus - Autosomal dominant inheritance - Babinski sign - Distal sensory impairment - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Pes cavus - Phenotypic variability - Progressive - Scoliosis - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 10 +What are the symptoms of Familial colorectal cancer ?,"What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hereditary nonpolyposis colorectal carcinoma - Neoplasm of the stomach - Renal cell carcinoma - Transitional cell carcinoma of the bladder - Uterine leiomyosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial colorectal cancer +What is (are) Peutz-Jeghers syndrome ?,"Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.",GARD,Peutz-Jeghers syndrome +What are the symptoms of Peutz-Jeghers syndrome ?,"What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Peutz-Jeghers syndrome +What causes Peutz-Jeghers syndrome ?,"What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.",GARD,Peutz-Jeghers syndrome +Is Peutz-Jeghers syndrome inherited ?,"Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Peutz-Jeghers syndrome +How to diagnose Peutz-Jeghers syndrome ?,"Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.",GARD,Peutz-Jeghers syndrome +What is (are) Pemphigus vulgaris ?,"Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown. It has rarely been observed in multiple members of the same family. Treatment is aimed at reducing symptoms and preventing complications. Severe cases are treated similarly to severe burns.",GARD,Pemphigus vulgaris +What causes Pemphigus vulgaris ?,"What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.",GARD,Pemphigus vulgaris +What is (are) Idiopathic neutropenia ?,"Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.",GARD,Idiopathic neutropenia +What are the symptoms of Idiopathic neutropenia ?,"What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic neutropenia +What is (are) Congenital lobar emphysema ?,"Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).",GARD,Congenital lobar emphysema +What are the symptoms of Congenital lobar emphysema ?,"What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Emphysema 90% Respiratory insufficiency 90% Abnormality of immune system physiology 50% Autosomal dominant inheritance - Bronchial cartilage hypoplasia - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital lobar emphysema +What are the symptoms of Symphalangism with multiple anomalies of hands and feet ?,"What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Finger syndactyly 90% Symphalangism affecting the phalanges of the hand 90% Brachydactyly syndrome 50% Macrocephaly 50% Hearing impairment 7.5% Kyphosis 7.5% Tarsal synostosis 7.5% Absent dorsal skin creases over affected joints - Autosomal dominant inheritance - Clinodactyly of the 5th toe - Cutaneous finger syndactyly - Proximal symphalangism (hands) - Reduced proximal interphalangeal joint space - Small hypothenar eminence - Small thenar eminence - Toe syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Symphalangism with multiple anomalies of hands and feet +What are the symptoms of Wells-Jankovic syndrome ?,"What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Impaired pain sensation 90% Sensorineural hearing impairment 90% Abnormality of the genital system 50% Opacification of the corneal stroma 50% Short stature 50% Visual impairment 50% Incoordination 7.5% Nystagmus 7.5% Cataract - Hearing impairment - Hypogonadism - Juvenile onset - Spastic paraparesis - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wells-Jankovic syndrome +What are the symptoms of Fuhrmann syndrome ?,"What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fuhrmann syndrome +What is (are) Hallermann-Streiff syndrome ?,"Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.",GARD,Hallermann-Streiff syndrome +What are the symptoms of Hallermann-Streiff syndrome ?,"What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hallermann-Streiff syndrome +What causes Hallermann-Streiff syndrome ?,"What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.",GARD,Hallermann-Streiff syndrome +Is Hallermann-Streiff syndrome inherited ?,"How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.",GARD,Hallermann-Streiff syndrome +How to diagnose Hallermann-Streiff syndrome ?,"Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetics professional to learn more about research testing for this condition.",GARD,Hallermann-Streiff syndrome +What are the treatments for Hallermann-Streiff syndrome ?,"How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention. With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.",GARD,Hallermann-Streiff syndrome +What are the symptoms of Genochondromatosis ?,"What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the knees 90% Multiple enchondromatosis 90% Abnormality of the skeletal system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Genochondromatosis +What is (are) Pulmonary alveolar microlithiasis ?,"Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.",GARD,Pulmonary alveolar microlithiasis +What are the symptoms of Pulmonary alveolar microlithiasis ?,"What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Intraalveolar nodular calcifications - Onset - Progressive pulmonary function impairment - Restrictive respiratory insufficiency - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary alveolar microlithiasis +What is (are) Laing distal myopathy ?,"Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.",GARD,Laing distal myopathy +What are the symptoms of Laing distal myopathy ?,"What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laing distal myopathy +What are the symptoms of Deafness-infertility syndrome ?,"What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness-infertility syndrome +"What are the symptoms of Gingival fibromatosis, 1 ?","What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gingival fibromatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Gingival fibromatosis, 1" +What is (are) Marden-Walker syndrome ?,"Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.",GARD,Marden-Walker syndrome +What are the symptoms of Marden-Walker syndrome ?,"What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. Additional features may include ptosis, arachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations. Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation. Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy. The Human Phenotype Ontology provides the following list of signs and symptoms for Marden-Walker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Blepharophimosis 90% Cleft palate 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Mask-like facies 90% Microcephaly 90% Muscular hypotonia 90% Narrow mouth 90% Ptosis 90% Radioulnar synostosis 90% Short stature 90% Skeletal muscle atrophy 90% Attention deficit hyperactivity disorder 50% Camptodactyly of finger 50% Intrauterine growth retardation 50% Kyphosis 50% Pectus carinatum 50% Pectus excavatum 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Displacement of the external urethral meatus 7.5% Hydrocephalus 7.5% Multicystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Situs inversus totalis 7.5% Talipes 7.5% Ventricular septal defect 7.5% Abnormality of the sternum - Agenesis of corpus callosum - Anteverted nares - Autosomal recessive inheritance - Camptodactyly - Cerebellar hypoplasia - Congenital contracture - Cryptorchidism - Dandy-Walker malformation - Decreased muscle mass - Dextrocardia - Epicanthus - Fixed facial expression - High palate - Hypertelorism - Hypoplasia of the brainstem - Hypospadias - Inferior vermis hypoplasia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Long philtrum - Low-set ears - Micropenis - Microphthalmia - Postnatal growth retardation - Primitive reflexes (palmomental, snout, glabellar) - Pulmonary hypoplasia - Renal hypoplasia - Seizures - Short neck - Strabismus - Talipes equinovarus - Wide anterior fontanel - Zollinger-Ellison syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marden-Walker syndrome +What causes Marden-Walker syndrome ?,What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.,GARD,Marden-Walker syndrome +Is Marden-Walker syndrome inherited ?,Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported.,GARD,Marden-Walker syndrome +What are the treatments for Marden-Walker syndrome ?,"How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. Special diets and feeding techniques may be of benefit. Early childhood intervention services may help with developmental problems. Other treatments are dependent upon the specific symptoms present in each patient.",GARD,Marden-Walker syndrome +What is (are) Aberrant subclavian artery ?,"Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.",GARD,Aberrant subclavian artery +What is (are) Alopecia universalis ?,"Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.",GARD,Alopecia universalis +What are the symptoms of Alopecia universalis ?,"What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associated with other conditions such as atopic dermatitis, thyroid disorders, and/or nail changes (such as pitting). Anxiety, personality disorders, depression, and paranoid disorders are more common in people with different forms of alopecia areata. The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia universalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia universalis +What causes Alopecia universalis ?,"What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Genetic studies have found that AA and AU are associated with several immune-related genes; however, they are likely complex disorders caused by the interaction of multiple genetic and environmental factors. This means that even if someone inherits a genetic predisposition to the condition, they may not become affected unless something in the environment triggers the onset of the condition.",GARD,Alopecia universalis +Is Alopecia universalis inherited ?,"Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited.",GARD,Alopecia universalis +How to diagnose Alopecia universalis ?,"How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.",GARD,Alopecia universalis +What are the treatments for Alopecia universalis ?,"How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.",GARD,Alopecia universalis +"What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ?","What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Anemia 12/14 Granulocytopenia 11/14 Autosomal recessive inheritance - Fever - Hemophagocytosis - Hepatosplenomegaly - Hypertriglyceridemia - Hypofibrinogenemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hemophagocytic lymphohistiocytosis, familial, 3" +What is (are) Talipes equinovarus ?,"Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed.",GARD,Talipes equinovarus +What are the symptoms of Talipes equinovarus ?,"What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Foot polydactyly 5% Patellar hypoplasia 5% Autosomal dominant inheritance - Incomplete penetrance - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Talipes equinovarus +What is (are) Dystrophic epidermolysis bullosa ?,"Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.",GARD,Dystrophic epidermolysis bullosa +What are the symptoms of Dystrophic epidermolysis bullosa ?,"What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7.5% Anemia 7.5% Atypical scarring of skin 7.5% Blepharitis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Corneal erosion 7.5% Eczema 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Immunologic hypersensitivity 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Nephrotic syndrome 7.5% Otitis media 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystrophic epidermolysis bullosa +What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ?,"What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Arthropathy - Autosomal recessive inheritance - Congenital finger flexion contractures - Constrictive pericarditis - Coxa vara - Flattened metacarpal heads - Flattened metatarsal heads - Generalized morning stiffness - Synovial hypertrophy - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camptodactyly arthropathy coxa vara pericarditis syndrome +What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ?,"What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dandy-Walker malformation with postaxial polydactyly +What is (are) Tarsal tunnel syndrome ?,"Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.",GARD,Tarsal tunnel syndrome +What are the symptoms of Tarsal tunnel syndrome ?,"What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest.",GARD,Tarsal tunnel syndrome +What causes Tarsal tunnel syndrome ?,"What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema.",GARD,Tarsal tunnel syndrome +What are the treatments for Tarsal tunnel syndrome ?,"What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery",GARD,Tarsal tunnel syndrome +What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E +What is (are) Proteus-like syndrome ?,"Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.",GARD,Proteus-like syndrome +"What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ?","What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Hypoplasia of the corpus callosum - Microcephaly - Preaxial hand polydactyly - Proptosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Microcephaly, corpus callosum dysgenesis and cleft lip-palate" +What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?,"Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.",GARD,Hypomyelination with atrophy of basal ganglia and cerebellum +What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?,"What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypomyelination with atrophy of basal ganglia and cerebellum +What causes Hypomyelination with atrophy of basal ganglia and cerebellum ?,What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.,GARD,Hypomyelination with atrophy of basal ganglia and cerebellum +How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?,"How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.",GARD,Hypomyelination with atrophy of basal ganglia and cerebellum +What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ?,"How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa. Another patient showed improvement in movement symptoms after taking folinic acid supplements.",GARD,Hypomyelination with atrophy of basal ganglia and cerebellum +What are the symptoms of Anterior segment mesenchymal dysgenesis ?,"What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anterior segment mesenchymal dysgenesis +"What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ?","What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Coronal craniosynostosis - Flat face - Genu valgum - Hearing impairment - High forehead - Narrow mouth - Patellar dislocation - Proptosis - Short foot - Short metacarpal - Short nose - Short stature - Short toe - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Chondrodysplasia with joint dislocations, GPAPP type" +What are the symptoms of Bartter syndrome antenatal type 1 ?,"What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Hyposthenuria - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Low-to-normal blood pressure - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polyhydramnios - Polyuria - Premature birth - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bartter syndrome antenatal type 1 +What are the symptoms of Minicore myopathy with external ophthalmoplegia ?,"What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Minicore myopathy with external ophthalmoplegia +"What are the symptoms of Dystonia 5, Dopa-responsive type ?","What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance 5% Autosomal dominant inheritance - Babinski sign - Childhood onset - Gait ataxia - Hyperreflexia - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Postural tremor - Scoliosis - Talipes equinovarus - Torticollis - Transient hyperphenylalaninemia - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dystonia 5, Dopa-responsive type" +What are the symptoms of Urocanase deficiency ?,"What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Urocanase deficiency +What are the symptoms of Single upper central incisor ?,"What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Single upper central incisor +What is (are) Gaucher disease ?,"Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.",GARD,Gaucher disease +What are the symptoms of Gaucher disease ?,"What are the signs and symptoms of Gaucher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Arthralgia 50% Aseptic necrosis 50% Behavioral abnormality 50% Bone pain 50% Delayed skeletal maturation 50% Developmental regression 50% Feeding difficulties in infancy 50% Incoordination 50% Involuntary movements 50% Oculomotor apraxia 50% Recurrent fractures 50% Reduced bone mineral density 50% Seizures 50% Strabismus 50% Thrombocytopenia 50% Abnormality of coagulation 7.5% Abnormality of extrapyramidal motor function 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Bone marrow hypocellularity 7.5% Cirrhosis 7.5% Cranial nerve paralysis 7.5% Gingival bleeding 7.5% Hearing impairment 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hydrocephalus 7.5% Hydrops fetalis 7.5% Ichthyosis 7.5% Increased antibody level in blood 7.5% Increased bone mineral density 7.5% Limitation of joint mobility 7.5% Mitral stenosis 7.5% Muscular hypotonia 7.5% Opacification of the corneal stroma 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Short stature 7.5% Tremor 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gaucher disease +What are the symptoms of Legius syndrome ?,"What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the sternum 5% Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Epicanthus - High palate - Hypertelorism - Low posterior hairline - Low-set, posteriorly rotated ears - Macrocephaly - Multiple lipomas - Muscular hypotonia - Neurofibromas - Ptosis - Short neck - Specific learning disability - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Legius syndrome +What are the symptoms of Loeys-Dietz syndrome type 2 ?,"What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Loeys-Dietz syndrome type 2 +What is (are) Ullrich congenital muscular dystrophy ?,"Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.",GARD,Ullrich congenital muscular dystrophy +What are the symptoms of Ullrich congenital muscular dystrophy ?,"What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ullrich congenital muscular dystrophy +What are the treatments for Ullrich congenital muscular dystrophy ?,"How might Ullrich muscular dystrophy be treated? Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. Prevention of chest infections may be achieved with the use of antibiotics. Feeding difficulties leading to failure to thrive may be managed by gastrostomy. Surgery may be needed for contractures and scoliosis. Some reports indicate that people with Ullrich congenital muscular dystrophy may may benefit from cyclosporin A. More studies into the benefits of this therapy are needed.",GARD,Ullrich congenital muscular dystrophy +What is (are) Isolated corpus callosum agenesis ?,"Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities. Treatment usually involves management of symptoms and seizures if they occur.",GARD,Isolated corpus callosum agenesis +What are the symptoms of Isolated corpus callosum agenesis ?,"What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Abnormality of the fontanelles or cranial sutures 50% EEG abnormality 50% Microcephaly 50% Abnormality of the pulmonary artery 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Dandy-Walker malformation 7.5% Deeply set eye 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Macrocephaly 7.5% Strabismus 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Camptodactyly - Growth delay - Intellectual disability - Joint contracture of the hand - Preauricular skin tag - Prominent forehead - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isolated corpus callosum agenesis +What are the symptoms of Odontoma dysphagia syndrome ?,"What are the signs and symptoms of Odontoma dysphagia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontoma dysphagia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atherosclerosis 90% Hepatic failure 90% Tracheoesophageal fistula 90% Autosomal dominant inheritance - Dysphagia - Odontoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Odontoma dysphagia syndrome +What is (are) Monoclonal gammopathy of undetermined significance ?,"Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as multiple myeloma, macroglobulinemia, or B-cell lymphoma). MGUS is thought to be a multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. People with MGUS are usually monitored closely to ensure that the levels of monoclonal protein do not rise and other problems do not develop. Those with stable levels of monoclonal protein typically do not require treatment.",GARD,Monoclonal gammopathy of undetermined significance +What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?,"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.",GARD,Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation +What are the symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?,"What are the signs and symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Dysarthria 5% Ataxia - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Hyporeflexia - Leukoencephalopathy - Motor delay - Muscle weakness - Nystagmus - Peripheral axonal neuropathy - Skeletal muscle atrophy - Slow progression - Spasticity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation +What is (are) Fryns syndrome ?,"Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.",GARD,Fryns syndrome +What are the symptoms of Fryns syndrome ?,"What are the signs and symptoms of Fryns syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anonychia 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the nipples 90% Broad forehead 90% Cognitive impairment 90% Congenital diaphragmatic hernia 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Multicystic kidney dysplasia 90% Short neck 90% Tented upper lip vermilion 90% Abnormality of the cardiac septa 50% Anteverted nares 50% Aplasia/Hypoplasia of the corpus callosum 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Coarse facial features 50% Cryptorchidism 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Opacification of the corneal stroma 50% Polyhydramnios 50% Seizures 50% Short distal phalanx of finger 50% Tetralogy of Fallot 50% Thickened nuchal skin fold 50% Wide mouth 50% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Dandy-Walker malformation 7.5% Displacement of the external urethral meatus 7.5% Duodenal stenosis 7.5% Ectopic anus 7.5% Intestinal malrotation 7.5% Narrow chest 7.5% Omphalocele 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of the helix - Absent left hemidiaphragm - Agenesis of corpus callosum - Anal atresia - Arrhinencephaly - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bifid scrotum - Blepharophimosis - Broad ribs - Camptodactyly - Chylothorax - Cleft upper lip - Duodenal atresia - Ectopic pancreatic tissue - Esophageal atresia - Facial hirsutism - Hydronephrosis - Hypoplasia of olfactory tract - Hypoplasia of the optic tract - Hypospadias - Intellectual disability - Joint contracture of the hand - Large for gestational age - Meckel diverticulum - Microphthalmia - Microretrognathia - Polysplenia - Prominent fingertip pads - Proximal placement of thumb - Pulmonary hypoplasia - Renal agenesis - Renal cyst - Rocker bottom foot - Shawl scrotum - Short thumb - Single transverse palmar crease - Small nail - Stillbirth - Thin ribs - Thoracic hypoplasia - Ureteral duplication - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fryns syndrome +Is Fryns syndrome inherited ?,"How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to ""run in families"" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Fryns syndrome +What is (are) Cramp-fasciculation syndrome ?,"Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to overactivity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases.",GARD,Cramp-fasciculation syndrome +What are the symptoms of Cramp-fasciculation syndrome ?,"What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or masssage. Muscles in the thighs and calves are most commonly affected, although other muscles (i.e. arm, chest) can also be involved. The severity of the condition varies significantly. In severe cases, CFS can interfere with daily activities (i.e. work, household chores) and quality of life.",GARD,Cramp-fasciculation syndrome +What causes Cramp-fasciculation syndrome ?,"What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune conditions Peripheral neuropathy Anterior-horn-cell disease Metabolic abnormalities",GARD,Cramp-fasciculation syndrome +How to diagnose Cramp-fasciculation syndrome ?,"How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.",GARD,Cramp-fasciculation syndrome +What are the treatments for Cramp-fasciculation syndrome ?,"How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabalin (medications that reduce the hyper-excitability of nerves) was described as helpful in improving symptoms in individual cases. Immunosuppressive therapy (e.g., prednisone) has been used to treat cases of CFS that did not respond to other treatments. For severe cases, additional treatment options may be considered. Decisions regarding treatment should be carefully considered and discussed with a knowledgeable healthcare provider.",GARD,Cramp-fasciculation syndrome +What are the symptoms of Viljoen Kallis Voges syndrome ?,"What are the signs and symptoms of Viljoen Kallis Voges syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Viljoen Kallis Voges syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the palate 90% Abnormality of thumb phalanx 90% Cognitive impairment 90% Hypertonia 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Prominent nasal bridge 90% Scoliosis 90% Short stature 90% Cataract 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Viljoen Kallis Voges syndrome +What is (are) Disseminated superficial actinic porokeratosis ?,"Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions usually appear in summer and improve or disappear during winter. While it is usually benign (not cancerous), squamous cell carcinoma or Bowens disease may occasionally develop within patches. DSAP may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of DSAP). Some cases are caused by a change (mutation) in the MVK or SART3 genes. Treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy.",GARD,Disseminated superficial actinic porokeratosis +What are the symptoms of Disseminated superficial actinic porokeratosis ?,"What are the signs and symptoms of Disseminated superficial actinic porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Disseminated superficial actinic porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Disseminated superficial actinic porokeratosis +What are the symptoms of X-linked lymphoproliferative syndrome 1 ?,"What are the signs and symptoms of X-linked lymphoproliferative syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked lymphoproliferative syndrome 1 +"What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ?","What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyebrow 90% Abnormality of the eyelashes 90% Cryptorchidism 90% Finger syndactyly 90% Ptosis 90% Shagreen patch 90% 2-3 toe syndactyly - 2-4 finger syndactyly - Autosomal recessive inheritance - Hyperextensible skin of chest - Hyperextensible skin of face - Hypermobility of interphalangeal joints - Long eyelashes - Partial duplication of eyebrows - Periorbital wrinkles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Eyebrows duplication of, with stretchable skin and syndactyly" +What are the symptoms of Mesomelia-synostoses syndrome ?,"What are the signs and symptoms of Mesomelia-synostoses syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelia-synostoses syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the uvula 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Limitation of joint mobility 90% Micromelia 90% Ptosis 90% Short foot 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Telecanthus 90% Ulnar deviation of finger 90% Abnormality of the femur 50% Abnormal nasal morphology 7.5% Abnormality of the ankles 7.5% Abnormality of the eyebrow 7.5% Abnormality of the upper urinary tract 7.5% Convex nasal ridge 7.5% Genu valgum 7.5% Hearing impairment 7.5% Hypoplasia of the zygomatic bone 7.5% Long philtrum 7.5% Myopia 7.5% Narrow mouth 7.5% Triangular face 7.5% Umbilical hernia 7.5% Short umbilical cord 3/5 Abnormality of the abdomen - Abnormality of the vertebrae - Absent uvula - Autosomal dominant inheritance - Hydronephrosis - Hypertelorism - Mesomelia - Mesomelic short stature - Microretrognathia - Nasal speech - Partial fusion of proximal row of carpal bones - Progressive forearm bowing - Ulnar deviation of the hand or of fingers of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mesomelia-synostoses syndrome +What are the symptoms of Familial erythema nodosum ?,"What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythema - Erythema nodosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial erythema nodosum +What is (are) Vernal keratoconjunctivitis ?,"Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name ""vernal"") and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; and involuntary blinking or spasms of the eyelid (blepharospasm). The condition usually subsides at the onset of puberty. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens. Management focuses on preventing ""flare ups"" and relieving the symptoms of the condition.",GARD,Vernal keratoconjunctivitis +What are the treatments for Vernal keratoconjunctivitis ?,"How might vernal keratoconjunctivitis be treated? Management of vernal keratoconjunctivitis (VKC) focuses on preventing allergic attacks as well as relieving the signs and symptoms of the condition. It is often recommended that affected individuals try to avoid the agent that causes the allergy (if possible); wear dark sunglasses in the daytime; avoid dust; and stay inside on hot afternoons. Eye drops that affect the amount of histamine released by immune system cells (called mast cell stabilizers) may be used at the beginning of the season or at the first sign of a ""flare-up"" to prevent severe symptoms; however, they are not considered effective at relieving symptoms. Topical eye drops are generally preferred as the first source of treatment. Cold compresses, artificial tears, ointments and/or topical antihistamines may help. Non-steroid anti-inflammatory drugs (NSAIDS) may relieve symptoms in moderate cases; topical steroids are typically only used for more severe cases because long-term use can cause glaucoma. A few prescription drugs may also be available for the treatment of VKC; these include cromolyn sodium, lodoxamide tromethamine and Levocabastine. Oral administration of montelukast, a drug usually prescribed for asthma, has also been shown to be an effective treatment of VKC. For more information about these drugs and their availability, individuals should speak with their health care providers.",GARD,Vernal keratoconjunctivitis +What are the symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy ?,"What are the signs and symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood-onset cerebral X-linked adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Attention deficit hyperactivity disorder - Blindness - Bowel incontinence - Bulbar palsy - Dementia - Elevated long chain fatty acids - Hearing impairment - Hyperpigmentation of the skin - Hypogonadism - Impotence - Incoordination - Limb ataxia - Loss of speech - Neurodegeneration - Paraparesis - Polyneuropathy - Primary adrenal insufficiency - Progressive - Psychosis - Seizures - Slurred speech - Spastic paraplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - Urinary incontinence - Visual loss - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Childhood-onset cerebral X-linked adrenoleukodystrophy +What is (are) Nephropathic cystinosis ?,"Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]",GARD,Nephropathic cystinosis +What are the symptoms of Nephropathic cystinosis ?,"What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice - Autosomal recessive inheritance - Cerebral atrophy - Corneal crystals - Decreased plasma carnitine - Dehydration - Delayed puberty - Delayed skeletal maturation - Diabetes mellitus - Dysphagia - Elevated intracellular cystine - Episodic metabolic acidosis - Exocrine pancreatic insufficiency - Failure to thrive in infancy - Frontal bossing - Generalized aminoaciduria - Genu valgum - Glycosuria - Hepatomegaly - Hypohidrosis - Hyponatremia - Hypophosphatemic rickets - Hypopigmentation of hair - Hypopigmentation of the skin - Male infertility - Metaphyseal widening - Microscopic hematuria - Myopathy - Nephrolithiasis - Photophobia - Pigmentary retinopathy - Polydipsia - Polyuria - Primary hypothyroidism - Progressive neurologic deterioration - Proteinuria - Rachitic rosary - Recurrent corneal erosions - Reduced visual acuity - Renal Fanconi syndrome - Renal insufficiency - Retinal pigment epithelial mottling - Short stature - Skeletal muscle atrophy - Splenomegaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nephropathic cystinosis +What are the symptoms of Congenital generalized lipodystrophy type 4 ?,"What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital generalized lipodystrophy type 4 +What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ?,"What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cardioauditory syndrome of Sanchez Cascos +What are the symptoms of Kniest like dysplasia lethal ?,"What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kniest like dysplasia lethal +What is (are) Lipoic acid synthetase deficiency ?,"Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.",GARD,Lipoic acid synthetase deficiency +What are the symptoms of Lipoic acid synthetase deficiency ?,"What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Autosomal recessive inheritance - Encephalopathy - Feeding difficulties - Flexion contracture - Growth delay - Hypertrophic cardiomyopathy - Increased serum lactate - Lactic acidosis - Microcephaly - Motor delay - Muscular hypotonia - Respiratory insufficiency - Seizures - Severe global developmental delay - Sleep disturbance - Spastic tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lipoic acid synthetase deficiency +What are the symptoms of Glomerulopathy with fibronectin deposits 1 ?,"What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glomerulopathy with fibronectin deposits 1 +What is (are) Metachromatic leukodystrophy ?,"Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.",GARD,Metachromatic leukodystrophy +What are the symptoms of Metachromatic leukodystrophy ?,"What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metachromatic leukodystrophy +Is Metachromatic leukodystrophy inherited ?,"How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Metachromatic leukodystrophy +How to diagnose Metachromatic leukodystrophy ?,"Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows: Parent of affected individual: assumed to be 100% (called an obligate carrier) Unaffected sibling of affected individual: 2 in 3 (~66.6%) Aunt or uncle of affected individual: 1 in 2 (50%) First cousin of affected individual: 1 in 4 (25%) If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also. More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here. Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional.",GARD,Metachromatic leukodystrophy +What are the symptoms of Hunter Rudd Hoffmann syndrome ?,"What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the distal phalanx of finger 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Convex nasal ridge 90% Craniosynostosis 90% Epicanthus 90% Hypotelorism 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Narrow forehead 90% Prominent metopic ridge 90% Ptosis 90% Short stature 90% Trigonocephaly 90% Underdeveloped supraorbital ridges 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of the palate 7.5% EEG abnormality 7.5% Hernia of the abdominal wall 7.5% Proptosis 7.5% Seizures 7.5% Ventricular septal defect 7.5% Broad secondary alveolar ridge - High palate - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low-set ears - Posteriorly rotated ears - Premature posterior fontanelle closure - Sagittal craniosynostosis - Small anterior fontanelle - Small for gestational age - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hunter Rudd Hoffmann syndrome +What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ?,"Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.",GARD,Severe intellectual disability-progressive spastic diplegia syndrome +What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ?,"What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Severe intellectual disability-progressive spastic diplegia syndrome +What are the symptoms of Malignant hyperthermia arthrogryposis torticollis ?,"What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Congenital muscular torticollis 90% Facial asymmetry 90% Limitation of joint mobility 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Plagiocephaly 90% Prominent metopic ridge 90% Scoliosis 90% Skeletal muscle atrophy 90% Talipes 90% Tapered finger 90% Ulnar deviation of finger 90% Webbed neck 90% Abnormality of the nipple 50% Abnormality of the voice 50% Amniotic constriction ring 50% Arachnodactyly 50% Cleft palate 50% Conductive hearing impairment 50% Cryptorchidism 50% Downturned corners of mouth 50% Malignant hyperthermia 50% Mask-like facies 50% Narrow mouth 50% Pectus excavatum 50% Prominent nasal bridge 50% Ptosis 50% Scrotal hypoplasia 50% Short stature 50% Abnormality of the fingernails 7.5% Abnormality of the ribs 7.5% Abnormality of the skin 7.5% Advanced eruption of teeth 7.5% Asymmetric growth 7.5% Broad alveolar ridges 7.5% Dolichocephaly 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Full cheeks 7.5% Hernia of the abdominal wall 7.5% Hypotelorism 7.5% Kyphosis 7.5% Malar flattening 7.5% Muscular hypotonia 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Proptosis 7.5% Respiratory insufficiency 7.5% Sloping forehead 7.5% Abnormality of the mandible - Autosomal recessive inheritance - Natal tooth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Malignant hyperthermia arthrogryposis torticollis +What are the symptoms of Slipped capital femoral epiphysis ?,"What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hip osteoarthritis - Proximal femoral epiphysiolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Slipped capital femoral epiphysis +What is (are) X-linked sideroblastic anemia ?,"X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.",GARD,X-linked sideroblastic anemia +What are the symptoms of X-linked sideroblastic anemia ?,"What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Abnormality of the cardiovascular system 7.5% Abnormality of the spleen 7.5% Irregular hyperpigmentation 7.5% Respiratory insufficiency 7.5% Type II diabetes mellitus 7.5% Hypochromic microcytic anemia - Macrocytic anemia - Sideroblastic anemia - Variable expressivity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked sideroblastic anemia +What is (are) PURA syndrome ?,"PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.",GARD,PURA syndrome +What are the symptoms of Warfarin syndrome ?,"What are the signs and symptoms of Warfarin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Anteverted nares 90% Depressed nasal bridge 90% Epiphyseal stippling 90% Short nose 90% Anonychia 50% Brachydactyly syndrome 50% Cognitive impairment 50% Intrauterine growth retardation 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short neck 50% Abnormality of the outer ear 7.5% Abnormality of the tongue 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cataract 7.5% Choanal atresia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Myelomeningocele 7.5% Optic atrophy 7.5% Proptosis 7.5% Seizures 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Warfarin syndrome +What is (are) Myelodysplastic syndromes ?,"Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some cases, MDS may progress to bone marrow failure or an acute leukemia. The exact cause of MDS is unknown. It sometimes runs in families, but no disease-causing gene has been identified. Treatment depends on the affected individual's age, general health, and type of MDS and may include red cell and/or platelet transfusions and antibiotics.",GARD,Myelodysplastic syndromes +What are the symptoms of Myelodysplastic syndromes ?,"What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myelodysplasia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myelodysplastic syndromes +What causes Myelodysplastic syndromes ?,"What causes myelodysplastic syndromes? It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. These changes alter normal cell growth and differentiation, resulting in the accumulation of abnormal, immature cells in the bone marrow, thus leading to the signs and symptoms of MDS. Some recurring chromosome abnormalities and translocations have been identified and can affect treatment planning and prognosis. Many times the underlying cause of MDS is unknown (idiopathic MDS). Sometimes, MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases (secondary MDS). There are also some possible risk factors for developing the condition. Having a risk factor does not mean that an individual will get MDS; not having risk factors doesnt mean that an individual will not get MDS. Possible risk factors for MDS may include past treatment with chemotherapy or radiation therapy; exposure to some chemicals (pesticides and benzene); exposure to heavy metals (such as mercury or lead); cigarette smoking; viral infections; being over 60 years of age; and being male or white. The majority of individuals developing MDS have no obvious connection with environmental hazards. MDS also sometimes runs in families, which suggests a potential genetic link with the disease; however, no disease causing gene has been identified.",GARD,Myelodysplastic syndromes +What are the symptoms of Isotretinoin embryopathy like syndrome ?,"What are the signs and symptoms of Isotretinoin embryopathy like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Isotretinoin embryopathy like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Low-set, posteriorly rotated ears 90% Ventricular septal defect 90% Abnormality of the aorta 50% Abnormality of the nose 50% Anterior creases of earlobe 50% Atria septal defect 50% High forehead 50% Hypertelorism 50% Oral cleft 50% Overfolded helix 50% Patent ductus arteriosus 50% Preauricular skin tag 50% Prominent occiput 50% Short neck 50% Abnormality of the posterior cranial fossa - Anotia - Autosomal recessive inheritance - Cleft palate - Conotruncal defect - Hydrocephalus - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isotretinoin embryopathy like syndrome +"What are the symptoms of Dystonia 3, torsion, X-linked ?","What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Chorea - Myoclonus - Parkinsonism with favorable response to dopaminergic medication - Torsion dystonia - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dystonia 3, torsion, X-linked" +What is (are) Brittle diabetes ?,"Brittle diabetes is characterized by severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that disrupt quality of life, often requiring frequent or prolonged hospitalizations. These unpredictable episodes are due to an absolute insulin dependency, affecting type 1 diabetics almost exclusively. Brittle diabetes is most common in women in their twenties or thirties, but can occur at any age and in either gender. The condition may be caused by stress and hormonal inbalance, neglect of self-care (noncompliance), or underlying medical conditions such as malabsorption, delayed gastric emptying due to autonomic neuropathy, drug or alcohol use or abnormal insulin absorption or degradation. Treatment is difficult and dependent upon the underlying cause.",GARD,Brittle diabetes +What are the symptoms of Brittle diabetes ?,"What are the symptoms of brittle diabetes? The main symptom of brittle diabetes is severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that cause a disruption of daily activities. Three clinical presentations have been described: Predominant hyperglycemia with recurrent ketoacidosis, Predominant hypoglycemia, and Mixed hyper- and hypoglycemia. Patients with brittle diabetes have wide swings in their blood sugar levels and often experience differing blood sugar responses to the same dose and type of insulin. Complications such as neuropathy, nephropathy, and retinopathy are common. Most patients are females in their twenties of thirties, though any age or gender can be affected.",GARD,Brittle diabetes +What causes Brittle diabetes ?,"What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. Other cases can be traced to physiological causes, including malabsorption, delayed gastric emptying due to autonomic neuropathy (gastroparesis), celiac disease, impaired glucose counterregulation (which doesn't allow the patient's body to react as it should when blood glucose levels drop), hypothyroidism and adrenal insufficiency, drug or alcohol use, systemic insulin resistance, and abnormal insulin absorption or degradation.",GARD,Brittle diabetes +What are the treatments for Brittle diabetes ?,"How might brittle diabetes be treated? The approach to management depends upon the underlying cause. General management strategies include diabetes education, frequent self-monitoring of blood glucose, the use of a continuous subcutaneous insulin pump in conjunction with a continuous glucose monitoring device, and, in rare cases, pancreas transplantation. Psychotherapy or working with a psychiatrist or psychologist is recommended for many people with brittle diabetes. Referral to a specialty center may be warranted in certain situations.",GARD,Brittle diabetes +What are the symptoms of Rheumatoid nodulosis ?,"What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Subcutaneous nodule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rheumatoid nodulosis +What are the symptoms of Smith McCort dysplasia ?,"What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atlantoaxial instability - Autosomal recessive inheritance - Barrel-shaped chest - Beaking of vertebral bodies - Deformed sella turcica - Delayed femoral head ossification - Disproportionate short-trunk short stature - Dolichocephaly - Genu valgum - Genu varum - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic facial bones - Hypoplastic scapulae - Irregular epiphyses - Kyphosis - Metaphyseal irregularity - Microcephaly - Multicentric femoral head ossification - Platyspondyly - Prominent sternum - Scoliosis - Short metacarpal - Short phalanx of finger - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Smith McCort dysplasia +What are the symptoms of Bantu siderosis ?,"What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated transferrin saturation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bantu siderosis +"What are the symptoms of Deafness, X-linked 2 ?","What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment - Dilatated internal auditory canal - Progressive sensorineural hearing impairment - Stapes ankylosis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, X-linked 2" +"What are the symptoms of Genu valgum, st Helena familial ?","What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Genu valgum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Genu valgum, st Helena familial" +What are the symptoms of IVIC syndrome ?,"What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 90% Limitation of joint mobility 90% Short stature 90% Strabismus 90% Abnormal dermatoglyphics 50% Aplasia/Hypoplasia of the thumb 50% Radioulnar synostosis 50% Scoliosis 50% Synostosis of carpal bones 50% Triphalangeal thumb 50% Abnormality of the clavicle 7.5% Arrhythmia 7.5% Leukocytosis 7.5% Preaxial hand polydactyly 7.5% Thrombocytopenia 7.5% Urogenital fistula 7.5% Absent thumb - Anal atresia - Autosomal dominant inheritance - Carpal bone hypoplasia - Carpal synostosis - External ophthalmoplegia - Hypoplasia of deltoid muscle - Hypoplasia of the radius - Intestinal malrotation - Limited elbow movement - Limited interphalangeal movement - Limited wrist movement - Pectoralis major hypoplasia - Phenotypic variability - Rectovaginal fistula - Short 1st metacarpal - Small thenar eminence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,IVIC syndrome +What is (are) Hypochondroplasia ?,"Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.",GARD,Hypochondroplasia +What are the symptoms of Hypochondroplasia ?,"What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypochondroplasia +What are the treatments for Hypochondroplasia ?,"How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.",GARD,Hypochondroplasia +What is (are) Pustular psoriasis ?,"Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be ""multifactorial"" or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers for this conditions including withdrawal from corticosteroids, exposure to various medications and/or infections. Some cases of the generalized form are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive pattern. In severe cases, hospitalization may be required. Treatment aims to alleviate the associated symptoms and may include certain medications and/or phototherapy.",GARD,Pustular psoriasis +What are the symptoms of Localized lipodystrophy ?,"What are the signs and symptoms of Localized lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Localized lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Cellulitis 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Localized lipodystrophy +What are the symptoms of Myelocerebellar disorder ?,"What are the signs and symptoms of Myelocerebellar disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocerebellar disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Gait disturbance 90% Incoordination 90% Abnormality of macrophages 50% Abnormality of neutrophils 50% Acute leukemia 50% Anemia 50% Hyperreflexia 50% Neurological speech impairment 50% Nystagmus 50% Recurrent respiratory infections 50% Splenomegaly 50% Abnormality of thrombocytes 7.5% Decreased antibody level in blood 7.5% Microcephaly 7.5% Acute myelomonocytic leukemia - Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Decreased nerve conduction velocity - Dysmetria - Hyperactive deep tendon reflexes - Hypoplastic anemia - Impaired vibration sensation in the lower limbs - Pancytopenia - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myelocerebellar disorder +What is (are) Hepatic lipase deficiency ?,"Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Hepatic lipase deficiency +What are the symptoms of Hepatic lipase deficiency ?,"What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hepatic lipase deficiency +What is (are) Alpha-1 antitrypsin deficiency ?,"Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis. AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner. Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.",GARD,Alpha-1 antitrypsin deficiency +What are the symptoms of Alpha-1 antitrypsin deficiency ?,"What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Emphysema 90% Hepatic failure 90% Hepatomegaly 50% Nephrotic syndrome 7.5% Cirrhosis 5% Autosomal recessive inheritance - Chronic obstructive pulmonary disease - Elevated hepatic transaminases - Hepatocellular carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alpha-1 antitrypsin deficiency +What causes Alpha-1 antitrypsin deficiency ?,"What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT. Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver. The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.",GARD,Alpha-1 antitrypsin deficiency +How to diagnose Alpha-1 antitrypsin deficiency ?,"How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either: detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.) Specialists involved in the diagnosis may include primary care doctors, pulmonologists (lung specialists), and/or hepatologists (liver specialists).",GARD,Alpha-1 antitrypsin deficiency +What are the treatments for Alpha-1 antitrypsin deficiency ?,"How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test). This therapy raises the level of the AAT protein in the blood and lungs. Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease. When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses. All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma). Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants. Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.",GARD,Alpha-1 antitrypsin deficiency +What is (are) Sneddon syndrome ?,"Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.",GARD,Sneddon syndrome +What are the symptoms of Sneddon syndrome ?,"What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% Cerebral ischemia 90% Cutis marmorata 90% Memory impairment 90% Migraine 90% Vertigo 90% Acrocyanosis 50% Amaurosis fugax 50% Developmental regression 50% Hemiplegia/hemiparesis 50% Hypertension 50% Muscle weakness 50% Neurological speech impairment 50% Visual impairment 50% Autoimmunity 7.5% Chorea 7.5% Intracranial hemorrhage 7.5% Nephropathy 7.5% Seizures 7.5% Tremor 7.5% Antiphospholipid antibody positivity - Autosomal dominant inheritance - Dysarthria - Facial palsy - Headache - Hemiplegia - Mental deterioration - Progressive - Sporadic - Stroke - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sneddon syndrome +What causes Sneddon syndrome ?,"What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipid antibody syndrome. Most cases of Sneddon syndrome occur in people with no other family history of the condition, however there have been a few families with more than one member affected. A recent study found that in one family, Sneddon syndrome developed as a result of inheriting two changes in the CECR1 gene. In this family, Sneddon syndrome was inherited in an autosomal recessive fashion. Other case reports of familial Sneddon syndrome suggest an autosomal dominant pattern of inheritance. It is not currently known if all familial cases are due to changes in CECR1. Currently there is a research study titled, Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory Diseases, which is studying the effects of CECR1 gene mutations. The study lead is Dr. Daniel Kastner of the National Human Genome Research Institute. Click on the study title to learn more.",GARD,Sneddon syndrome +"What are the symptoms of Prekallikrein deficiency, congenital ?","What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Prolonged partial thromboplastin time - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Prekallikrein deficiency, congenital" +What are the symptoms of Hermansky Pudlak syndrome 2 ?,"What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aberrant melanosome maturation - Acetabular dysplasia - Albinism - Autosomal recessive inheritance - Carious teeth - Coarse facial features - Congenital onset - Fair hair - Hepatomegaly - Hip dysplasia - Intellectual disability, mild - Long philtrum - Low-set ears - Microcephaly - Motor delay - Neutropenia - Nystagmus - Ocular albinism - Periodontitis - Photophobia - Posteriorly rotated ears - Pulmonary fibrosis - Recurrent bacterial infections - Reduced visual acuity - Smooth philtrum - Splenomegaly - Strabismus - Thrombocytopenia - Upslanted palpebral fissure - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hermansky Pudlak syndrome 2 +What are the symptoms of Multiple epiphyseal dysplasia 2 ?,"What are the signs and symptoms of Multiple epiphyseal dysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Osteoarthritis 90% Abnormality of the hip bone 50% Arthralgia 50% Gait disturbance 50% Limitation of joint mobility 50% Micromelia 50% Short stature 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Epiphyseal dysplasia - Flattened epiphysis - Irregular epiphyses - Knee osteoarthritis - Mild short stature - Short palm - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple epiphyseal dysplasia 2 +What are the symptoms of Anophthalmos with limb anomalies ?,"What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyebrow 90% Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia affecting the eye 90% Blepharophimosis 90% Finger syndactyly 90% Frontal bossing 90% Sandal gap 90% Synostosis of carpal bones 90% Toe syndactyly 90% Abnormal form of the vertebral bodies 50% Abnormality of bone mineral density 50% Abnormality of the fibula 50% Abnormality of the thumb 50% Abnormality of the tibia 50% Cleft upper lip 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hand polydactyly 50% Optic atrophy 50% Single transverse palmar crease 50% Split hand 50% Tarsal synostosis 50% Abnormal localization of kidney 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Malar flattening 7.5% Postaxial foot polydactyly 7.5% Talipes 7.5% Venous insufficiency 7.5% Abnormality of the cardiovascular system - Abnormality of the hair - Anophthalmia - Autosomal recessive inheritance - Camptodactyly of 2nd-5th fingers - Deep philtrum - Depressed nasal bridge - Fibular hypoplasia - Flared nostrils - Fused fourth and fifth metacarpals - High palate - Hip dislocation - Intellectual disability - Low-set ears - Microphthalmia - Oligodactyly (feet) - Oligodactyly (hands) - Postaxial hand polydactyly - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Retrognathia - Short nose - Short palpebral fissure - Talipes equinovarus - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anophthalmos with limb anomalies +What is (are) Intrahepatic cholangiocarcinoma ?,"Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old. Signs and symptoms of intrahepatic cholangiocarcinoma include jaundice, abdominal pain, fever, weight loss, weakness and itching. Treatment options may include surgery to remove the bile duct and parts of the liver, chemotherapy and radiation.",GARD,Intrahepatic cholangiocarcinoma +What are the treatments for Intrahepatic cholangiocarcinoma ?,"How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer. For cases of intrahepatic cancers that cannot be surgically removed, a liver transplantation may be an option. In some cases, a liver transplant might even cure the cancer. Finally, radiation and chemotherapy are also treatment options available for intrahepatic cholangiocarcioma either in addition to surgery or on their own.",GARD,Intrahepatic cholangiocarcinoma +What is (are) Primary central nervous system lymphoma ?,"Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and symptoms vary based on which parts of the central nervous system are affected, but may include nausea and vomiting; seizures; headaches; arm or leg weakness; confusion; double vision and/or hearing loss. The exact underlying cause of primary CNS lymphoma is poorly understood; however, people with a weakened immune system (such as those with acquired immunodeficiency syndrome) or who have had an organ transplant appear to have an increased risk of developing the condition. Treatment varies based on the severity of the condition and location of the cancerous cells.",GARD,Primary central nervous system lymphoma +What are the symptoms of Craniofacial dyssynostosis ?,"What are the signs and symptoms of Craniofacial dyssynostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniofacial dyssynostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Craniosynostosis 90% Dolichocephaly 90% Frontal bossing 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Atresia of the external auditory canal 50% Clinodactyly of the 5th finger 50% Hydrocephalus 50% Open mouth 50% Short philtrum 50% Short stature 50% Strabismus 50% Umbilical hernia 50% Underdeveloped nasal alae 50% Underdeveloped supraorbital ridges 50% Abnormality of the oral cavity 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Sacral dimple 7.5% Short neck 7.5% Abnormal location of ears - Abnormal shape of the occiput - Agenesis of corpus callosum - Arnold-Chiari type I malformation - Brachyturricephaly - Cryptorchidism - Esotropia - Flat midface - Generalized hypotonia - Horseshoe kidney - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypospadias - Intellectual disability - Malar flattening - Narrow forehead - Pyloric stenosis - Seizures - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Craniofacial dyssynostosis +What is (are) Froelich syndrome ?,"Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired (i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.",GARD,Froelich syndrome +What are the symptoms of Froelich syndrome ?,"What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin.",GARD,Froelich syndrome +What causes Froelich syndrome ?,"What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries.",GARD,Froelich syndrome +How to diagnose Froelich syndrome ?,"How might Froelich syndrome be diagnosed? Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made.",GARD,Froelich syndrome +"What are the symptoms of Microcephalic primordial dwarfism, Montreal type ?","What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormal hair quantity 90% Abnormality of the nipple 90% Abnormality of the palate 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Cryptorchidism 90% Dental malocclusion 90% Dry skin 90% EEG abnormality 90% Hernia of the abdominal wall 90% Hyperhidrosis 90% Hyperreflexia 90% Hypertonia 90% Kyphosis 90% Lipoatrophy 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Premature graying of hair 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Shagreen patch 90% Short stature 90% Vertebral segmentation defect 90% Alopecia of scalp - Autosomal recessive inheritance - Brain very small - Excessive wrinkling of palmar skin - Intellectual disability - Large eyes - Narrow face - Retrognathia - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Microcephalic primordial dwarfism, Montreal type" +What is (are) Transient neonatal diabetes mellitus ?,"Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes. Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.",GARD,Transient neonatal diabetes mellitus +What are the symptoms of Transient neonatal diabetes mellitus ?,"What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Type II diabetes mellitus 2/7 Autosomal dominant inheritance - Dehydration - Hyperglycemia - Intrauterine growth retardation - Severe failure to thrive - Transient neonatal diabetes mellitus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transient neonatal diabetes mellitus +"What are the symptoms of Tuberous sclerosis, type 1 ?","What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Tuberous sclerosis, type 1" +What is (are) Chronic inflammatory demyelinating polyneuropathy ?,"Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the ""chronic counterpart"" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.",GARD,Chronic inflammatory demyelinating polyneuropathy +What are the symptoms of Chronic inflammatory demyelinating polyneuropathy ?,"What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute demyelinating polyneuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic inflammatory demyelinating polyneuropathy +What causes Chronic inflammatory demyelinating polyneuropathy ?,"What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies.",GARD,Chronic inflammatory demyelinating polyneuropathy +Is Chronic inflammatory demyelinating polyneuropathy inherited ?,Is chronic inflammatory demyelinating polyneuropathy (CIDP) inherited? CIDP is not known to be inherited and is considered an acquired disorder. No clear genetic predisposition or other predisposing factors for CIDP have been identified.,GARD,Chronic inflammatory demyelinating polyneuropathy +What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?,"How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility.",GARD,Chronic inflammatory demyelinating polyneuropathy +What is (are) Parkes Weber syndrome ?,Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.,GARD,Parkes Weber syndrome +What are the symptoms of Parkes Weber syndrome ?,"What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb); and multiple arteriovenous fistulas (abnormal connections between arteries and veins). The Human Phenotype Ontology provides the following list of signs and symptoms for Parkes Weber syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of limb bone morphology 90% Lower limb asymmetry 90% Peripheral arteriovenous fistula 90% Skeletal muscle hypertrophy 90% Telangiectasia of the skin 90% Venous insufficiency 50% Congestive heart failure 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Parkes Weber syndrome +What are the treatments for Parkes Weber syndrome ?,"How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.",GARD,Parkes Weber syndrome +What is (are) Multifocal choroiditis ?,"Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.",GARD,Multifocal choroiditis +What are the symptoms of Multifocal choroiditis ?,"What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss.",GARD,Multifocal choroiditis +What causes Multifocal choroiditis ?,"What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area.",GARD,Multifocal choroiditis +How to diagnose Multifocal choroiditis ?,"How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.",GARD,Multifocal choroiditis +What are the treatments for Multifocal choroiditis ?,"How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended. People with more severe vision loss may also benefit from laser therapy. Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working.",GARD,Multifocal choroiditis +What is (are) Osteogenesis imperfecta ?,"Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.",GARD,Osteogenesis imperfecta +What are the symptoms of Osteogenesis imperfecta ?,"What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dentin 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of the tibia 90% Blue sclerae 90% Carious teeth 90% Convex nasal ridge 90% Decreased skull ossification 90% Gait disturbance 90% Intrauterine growth retardation 90% Macrocephaly 90% Pectus carinatum 90% Prominent occiput 90% Abnormal cortical bone morphology 50% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Genu valgum 50% Glaucoma 50% Hyperhidrosis 50% Joint hypermobility 50% Narrow chest 50% Opacification of the corneal stroma 50% Reduced bone mineral density 50% Scoliosis 50% Slender long bone 50% Triangular face 50% Visual impairment 50% Abnormality of the endocardium 7.5% Hearing impairment 7.5% Kyphosis 7.5% Micromelia 7.5% Pectus excavatum 7.5% Recurrent fractures 7.5% Short stature 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Umbilical hernia 7.5% Visceral angiomatosis 7.5% Wormian bones 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta +What causes Osteogenesis imperfecta ?,"What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific mutation has on normal collagen production. OI caused by mutations in these genes is inherited in an autosomal dominant manner. In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to mutations in other genes; many of these people have an autosomal recessive form of OI. Other genes in which mutations may be responsible for less common types of OI, some of which have been reported in only one individual or family, include: IFITM5 (type V) SERPINF1 (type VI) CRTAP (type VII) LEPRE1, also called P3H1 (type VIII) PPIB (type IX) SERPINH1 (type X) FKBP10 (type XI) SP7 (type XII) BMP1 (type XIII) TMEM38B (type XIV) WNT1 (type XV) SPARC (type XVII)",GARD,Osteogenesis imperfecta +Is Osteogenesis imperfecta inherited ?,"How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected person (a de novo mutation). When a person with an autosomal dominant form of OI has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene. If the child inherits the mutated gene, the child's symptoms may be milder, or more severe, than those of the parent. Less commonly, OI is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with an autosomal recessive condition typically are unaffected, but each carry one mutated copy of the gene. When two carriers of an autosomal recessive form of OI have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.",GARD,Osteogenesis imperfecta +How to diagnose Osteogenesis imperfecta ?,"Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on ""Testing"" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.",GARD,Osteogenesis imperfecta +What is (are) Sclerosing mucoepidermoid carcinoma with eosinophilia ?,"Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis. The prevalence of SMECE is unknown, but only around 50 cases have been described in the medical literature. SMECE most commonly presents between 40 to 75 years of age. SMECE was initially considered a ""low-grade"" tumor, however cases of SMECE spreading locally to lymph nodes and to distant organs have been described. While data is limited, with treatment it appears that prognosis is typically good.",GARD,Sclerosing mucoepidermoid carcinoma with eosinophilia +What is (are) Brown-Sequard syndrome ?,"Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition.",GARD,Brown-Sequard syndrome +What are the treatments for Brown-Sequard syndrome ?,How might Brown-Sequard syndrome be treated?,GARD,Brown-Sequard syndrome +What is (are) 15q13.3 microduplication syndrome ?,"15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures).",GARD,15q13.3 microduplication syndrome +What is (are) Carpenter syndrome ?,Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.,GARD,Carpenter syndrome +What are the symptoms of Carpenter syndrome ?,"What are the signs and symptoms of Carpenter syndrome? The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits). People with Carpenter syndrome often have intellectual disability (from mild to profound), but some affected people have normal intelligence. Craniosynostosis prevents the skull from growing normally and can cause a pointed appearance of the head; asymmetry of the head and face; increased pressure within the skull; and characteristic facial features. Facial features may include a flat nasal bridge; down-slanting palpebral fissures (the outside corners of the eye); low-set and abnormally shaped ears; underdeveloped jaws; and abnormal eye shape. Vision problems are common. Some people also have dental abnormalities such as small baby teeth. Abnormalities of the fingers and toes may include fusion of the skin between digits; short digits; or extra digits. Other signs and symptoms may include obesity, umbilical hernia, hearing loss, heart defects, and other skeletal abnormalities such as as deformed hips, kyphoscoliosis, and knees that angle inward. Nearly all males have genital abnormalities such as undescended testes. A few affected people have organs or tissues within the torso that are in reversed positions. The Human Phenotype Ontology provides the following list of signs and symptoms for Carpenter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Agenesis of permanent teeth - Aplasia/Hypoplasia of the corpus callosum - Aplasia/Hypoplasia of the middle phalanges of the hand - Aplasia/Hypoplasia of the middle phalanges of the toes - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Brachydactyly syndrome - Camptodactyly - Cerebral atrophy - Clinodactyly of the 5th finger - Complete duplication of proximal phalanx of the thumb - Conductive hearing impairment - Coronal craniosynostosis - Coxa valga - Cryptorchidism - Depressed nasal bridge - Duplication of the proximal phalanx of the hallux - Epicanthus - External genital hypoplasia - Flared iliac wings - Genu valgum - Genu varum - High palate - Hydronephrosis - Hydroureter - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Joint contracture of the hand - Lambdoidal craniosynostosis - Large foramen magnum - Lateral displacement of patellae - Low-set ears - Malar flattening - Microcornea - Obesity - Omphalocele - Opacification of the corneal stroma - Optic atrophy - Patent ductus arteriosus - Persistence of primary teeth - Polysplenia - Postaxial hand polydactyly - Preauricular pit - Preaxial foot polydactyly - Precocious puberty - Pseudoepiphyses of the proximal phalanges of the hand - Pulmonic stenosis - Sacral dimple - Sagittal craniosynostosis - Scoliosis - Sensorineural hearing impairment - Shallow acetabular fossae - Short neck - Short stature - Spina bifida occulta - Telecanthus - Tetralogy of Fallot - Toe syndactyly - Transposition of the great arteries - Umbilical hernia - Underdeveloped supraorbital ridges - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carpenter syndrome +"What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ?","What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans 90% Cognitive impairment 90% Gynecomastia 90% Hyperinsulinemia 90% Nystagmus 90% Sensorineural hearing impairment 90% Short stature 90% Type II diabetes mellitus 90% Atypical scarring of skin 50% Brachydactyly syndrome 50% Broad foot 50% Cataract 50% Coarse facial features 50% Cryptorchidism 50% Delayed skeletal maturation 50% Dry skin 50% Obesity 50% Secondary amenorrhea 50% Short toe 50% Visual impairment 50% Cerebral cortical atrophy 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Polycystic ovaries 7.5% Abnormality of the ear - Autosomal recessive inheritance - Broad palm - Cerebellar atrophy - Cerebral atrophy - Elevated hepatic transaminases - Hypergonadotropic hypogonadism - Insulin-resistant diabetes mellitus - Intellectual disability - Pigmentary retinopathy - Rod-cone dystrophy - Sparse hair - Subcapsular cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Retinitis pigmentosa, deafness, mental retardation, and hypogonadism" +What is (are) Neurogenic diabetes insipidus ?,"Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. To treat the ADH deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill.",GARD,Neurogenic diabetes insipidus +What are the symptoms of Neurogenic diabetes insipidus ?,"What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Dehydration 90% Diabetes insipidus 90% Weight loss 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Reduced consciousness/confusion 50% Diarrhea 7.5% Hypernatremia 7.5% Hyponatremia 7.5% Nausea and vomiting 7.5% Seizures 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Gliosis - Hypertelorism - Long philtrum - Osteopenia - Short nose - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neurogenic diabetes insipidus +What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ?,"What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Lymphedema 90% Single transverse palmar crease 90% Skull defect 90% Clinodactyly of the 5th finger 50% Decreased antibody level in blood 50% Hypoproteinemia 50% Lymphopenia 50% Malabsorption 50% Abnormality of coagulation 7.5% Chorioretinal coloboma 7.5% Myopia 7.5% Abnormal bleeding - Abnormality of the paranasal sinuses - Aplasia cutis congenita over the scalp vertex - Autosomal recessive inheritance - Generalized edema - Intestinal lymphangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aplasia cutis congenita intestinal lymphangiectasia +What are the symptoms of Amyotonia congenita ?,"What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyotonia congenita +What are the symptoms of Angel shaped phalangoepiphyseal dysplasia ?,"What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 50% Delayed eruption of teeth 50% Short stature 50% Delayed skeletal maturation 7.5% Delayed ossification of carpal bones - Hip osteoarthritis - Hyperextensibility of the finger joints - Premature osteoarthritis - Pseudoepiphyses of the metacarpals - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Angel shaped phalangoepiphyseal dysplasia +What are the symptoms of Zlotogora syndrome ?,"What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Zlotogora syndrome +"What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ?","What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Alopecia, epilepsy, pyorrhea, mental subnormality" +What are the symptoms of Keratoderma palmoplantar deafness ?,"What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Hearing impairment - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratoderma palmoplantar deafness +What is (are) Silicosis ?,"Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.",GARD,Silicosis +What are the symptoms of Silicosis ?,"What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight loss Night Sweats Chest pains",GARD,Silicosis +What causes Silicosis ?,"What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe.",GARD,Silicosis +What is (are) Chromosome 16p13.3 deletion syndrome ?,"Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, serious organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.",GARD,Chromosome 16p13.3 deletion syndrome +What are the symptoms of Chromosome 16p13.3 deletion syndrome ?,"What are the signs and symptoms of Chromosome 16p13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 16p13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the hairline - Abnormality of the kidney - Autosomal dominant contiguous gene syndrome - Broad hallux - Broad thumb - Clinodactyly of the 5th finger - Convex nasal ridge - Death in infancy - Facial hemangioma - Facial hypertrichosis - Failure to thrive - Feeding difficulties in infancy - High palate - Hypoplastic left heart - Intellectual disability - Low hanging columella - Microcephaly - Muscular hypotonia - Myopia - Nevus sebaceous - Obesity - Polysplenia - Prominent nose - Recurrent infections - Scoliosis - Seizures - Sleep disturbance - Somatic mosaicism - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 16p13.3 deletion syndrome +What is (are) Dyggve-Melchior-Clausen syndrome ?,"Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.",GARD,Dyggve-Melchior-Clausen syndrome +What are the symptoms of Dyggve-Melchior-Clausen syndrome ?,"What are the signs and symptoms of Dyggve-Melchior-Clausen syndrome? Affected newborns may be small at birth, but otherwise appear normal. Skeletal findings are often recognized first between 1 and 18 months. With age, other characteristics begin to develop. Chest deformities, feeding difficulties, and developmental delay usually occur before 18 months. Disproportionate short stature usually occurs after 18 months. Additional features may include a long skull, distinctive facial appearance, a protruding jaw, microcephaly, and claw-like hands. Intellectual disability occurs in most cases, ranging from moderate to severe. Affected individuals can also develop a protruding breastbone; spinal abnormalities; abnormal bones in the hands, fingers, toes, wrists, and long bones of the arms and legs; and joint contractures, especially of the elbows and hips. Secondary problems resulting from the skeletal abnormalities may include spinal compression, dislocated hips, and restricted joint mobility. These problems may in turn cause a waddling gait. The Human Phenotype Ontology provides the following list of signs and symptoms for Dyggve-Melchior-Clausen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Cognitive impairment 90% Limb undergrowth 90% Pectus carinatum 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Abnormality of the metacarpal bones 50% Abnormality of the wrist 50% Hyperlordosis 50% Hypoplasia of the odontoid process 50% Kyphosis 50% Limitation of joint mobility 50% Microcephaly 50% Neurological speech impairment 50% Sloping forehead 50% Spinal canal stenosis 50% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Shoulder dislocation 7.5% Abnormality of the nervous system - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Barrel-shaped chest - Beaking of vertebral bodies - Brachycephaly - Broad foot - Broad palm - Camptodactyly - Carpal bone hypoplasia - Coarse facial features - Cone-shaped epiphyses of the phalanges of the hand - Coxa vara - Deformed sella turcica - Disproportionate short-trunk short stature - Distal ulnar hypoplasia - Enlargement of the costochondral junction - Flat acetabular roof - Flat glenoid fossa - Genu valgum - Hallux valgus - Hypoplastic facial bones - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic pelvis - Hypoplastic sacrum - Hypoplastic scapulae - Iliac crest serration - Irregular iliac crest - Lumbar hyperlordosis - Mandibular prognathia - Multicentric ossification of proximal femoral epiphyses - Multicentric ossification of proximal humeral epiphyses - Narrow greater sacrosciatic notches - Platyspondyly - Postnatal growth retardation - Prominent sternum - Rhizomelia - Scoliosis - Severe global developmental delay - Shield chest - Short femoral neck - Short metacarpal - Short metatarsal - Short neck - Spondyloepimetaphyseal dysplasia - Thickened calvaria - Thoracic kyphosis - Waddling gait - Wide pubic symphysis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyggve-Melchior-Clausen syndrome +How to diagnose Dyggve-Melchior-Clausen syndrome ?,"How is Dyggve-Melchior-Clausen syndrome diagnosed? DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. Genetic testing can also confirm a diagnosis. Is genetic testing available for Dyggve-Melchior-Clausen syndrome? GeneTests lists the name of the laboratory that performs clinical genetic testing for Dyggve-Melchior-Clausen syndrome. To view the contact information for this laboratory, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Dyggve-Melchior-Clausen syndrome +What are the treatments for Dyggve-Melchior-Clausen syndrome ?,"How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs.",GARD,Dyggve-Melchior-Clausen syndrome +What is (are) Meesmann corneal dystrophy ?,"Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane. Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.",GARD,Meesmann corneal dystrophy +What are the symptoms of Meesmann corneal dystrophy ?,"What are the signs and symptoms of Meesmann corneal dystrophy? Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i.e., irregular corneal astigmatism). Some people with Meesman corneal dystrophy experience no symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Meesmann corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Nonprogressive - Punctate opacification of the cornea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Meesmann corneal dystrophy +What causes Meesmann corneal dystrophy ?,What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion.,GARD,Meesmann corneal dystrophy +What are the treatments for Meesmann corneal dystrophy ?,"How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy.",GARD,Meesmann corneal dystrophy +What is (are) Congenital pulmonary lymphangiectasia ?,"Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph, which is made up of proteins, fats and certain white blood cells called lymphocytes, accumulates in the tiny spaces between tissue cells. Infants with congenital pulmonary lymphangiectasia often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis, a condition caused by low levels of circulating oxygen in the blood which causes the skin to have a bluish tint. The exact cause of the condition is unknown. Congenital pulmonary lymphangiectasia can occur as a primary or secondary disorder. Primary congenital pulmonary lymphangiectasia can occur as an isolated defect within the lungs or as part of a a generalized form of lymphatic vessel malformation that affects the entire body. Secondary congenital pulmonary lymphangiectasia occurs secondary to another condition, often involving the heart.",GARD,Congenital pulmonary lymphangiectasia +What are the symptoms of Congenital pulmonary lymphangiectasia ?,"What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Respiratory insufficiency 90% Abnormality of the pericardium 50% Chronic obstructive pulmonary disease 50% Congestive heart failure 50% Hydrops fetalis 50% Abnormality of the tricuspid valve 7.5% Hepatomegaly 7.5% Pulmonary hypertension 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Bronchodysplasia - Chylothorax - Chylous ascites - Depressed nasal bridge - Edema of the lower limbs - Flat face - Hypertelorism - Malar flattening - Mild postnatal growth retardation - Nonimmune hydrops fetalis - Palpebral edema - Pectus excavatum - Pleural effusion - Polyhydramnios - Pulmonary lymphangiectasia - Recurrent respiratory infections - Variable expressivity - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital pulmonary lymphangiectasia +What are the symptoms of Lethal congenital contracture syndrome 2 ?,"What are the signs and symptoms of Lethal congenital contracture syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 7.5% Ventricular septal defect 7.5% Akinesia - Autosomal recessive inheritance - Decreased fetal movement - Degenerative vitreoretinopathy - Edema - Hydronephrosis - Polyhydramnios - Respiratory failure - Severe Myopia - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lethal congenital contracture syndrome 2 +What are the symptoms of ICF syndrome ?,"What are the signs and symptoms of ICF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ICF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neutrophils 50% Anemia 50% Cellular immunodeficiency 50% Cognitive impairment 50% Communicating hydrocephalus 50% Depressed nasal bridge 50% Lymphopenia 50% Macrocephaly 50% Malabsorption 50% Abnormality of the tongue 7.5% Epicanthus 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Umbilical hernia 7.5% Anteverted nares - Autosomal recessive inheritance - Bronchiectasis - Chronic bronchitis - Diarrhea - Failure to thrive - Flat face - Immunodeficiency - Intellectual disability - Low-set ears - Macroglossia - Pneumonia - Protruding tongue - Sinusitis - T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ICF syndrome +What is (are) Schindler disease type 1 ?,"Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance.",GARD,Schindler disease type 1 +What are the symptoms of Schindler disease type 1 ?,"What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Autism 90% Cataract 90% Cognitive impairment 90% Developmental regression 90% Hearing impairment 90% Hypertonia 90% Muscle weakness 90% Seizures 90% Strabismus 90% Visual impairment 90% Hemiplegia/hemiparesis 50% Hepatomegaly 50% Hyperkeratosis 50% Hypertrophic cardiomyopathy 50% Involuntary movements 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Telangiectasia of the skin 50% Vertigo 50% Aplasia/Hypoplasia of the cerebellum 7.5% Lymphedema 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Cortical visual impairment - Generalized amyotrophy - Hyperreflexia - Increased urinary O-linked sialopeptides - Infantile onset - Intellectual disability, severe - Myoclonus - Osteopenia - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schindler disease type 1 +What causes Schindler disease type 1 ?,"What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.",GARD,Schindler disease type 1 +Is Schindler disease type 1 inherited ?,"How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not show signs and symptoms of the condition.",GARD,Schindler disease type 1 +What is (are) Diffuse gastric cancer ?,"Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term ""signet ring cell"" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called ""hereditary diffuse gastric cancer."" Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).",GARD,Diffuse gastric cancer +What are the symptoms of Diffuse gastric cancer ?,"What are the signs and symptoms of Diffuse gastric cancer? Signs and symptoms of gastric cancer may include indigestion, stomach discomfort, bloating, mild nausea, loss of appetite, and heartburn. In more advanced stages of gastric cancer signs and symptoms may include bloody stool, vomiting, weight loss, stomach pain, jaundice, ascites (fluid in the abdomen), and trouble swallowing. The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse gastric cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chronic atrophic gastritis - Stomach cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse gastric cancer +What causes Diffuse gastric cancer ?,"Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. You can visit the following information pages develped by the National Cancer Insitute and Cancer Research UK to learn more about these risks. http://www.cancer.gov/cancertopics/wyntk/stomach/page4 http://www.cancerhelp.org.uk/help/default.asp?page=3903",GARD,Diffuse gastric cancer +Is Diffuse gastric cancer inherited ?,Can diffuse gastric cancer be inherited? Diffuse gastric cancer can be inherited or can happen sporadically in a family. Sporadic means that the cancer occurred randomly for the first time in a individual and was not inherited from a parent. Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. Individuals with a CDH1 mutation typically develop cancer before age 40.,GARD,Diffuse gastric cancer +What are the symptoms of Short rib-polydactyly syndrome type 3 ?,"What are the signs and symptoms of Short rib-polydactyly syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Limb undergrowth 90% Narrow chest 90% Respiratory insufficiency 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Abnormal form of the vertebral bodies 50% Congenital hepatic fibrosis 50% Depressed nasal bridge 50% Displacement of the external urethral meatus 50% Epicanthus 50% Frontal bossing 50% Hydrops fetalis 50% Long philtrum 50% Macrocephaly 50% Median cleft lip 50% Postaxial hand polydactyly 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Ectopic anus 7.5% Midline facial cleft 7.5% Omphalocele 7.5% Polycystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Short rib-polydactyly syndrome type 3 +What are the symptoms of IMAGe syndrome ?,"What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,IMAGe syndrome +What are the symptoms of Limb-girdle muscular dystrophy type 1A ?,"What are the signs and symptoms of Limb-girdle muscular dystrophy type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Achilles tendon contracture - Adult onset - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Heterogeneous - Hyporeflexia - Late-onset distal muscle weakness - Muscle fiber splitting - Muscular dystrophy - Nasal, dysarthic speech - Pelvic girdle muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb-girdle muscular dystrophy type 1A +What are the symptoms of X-linked thrombocytopenia ?,"What are the signs and symptoms of X-linked thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature - Bruising susceptibility - Congenital thrombocytopenia - Decreased mean platelet volume - Eczema - Epistaxis - Increased IgA level - Increased IgE level - Intermittent thrombocytopenia - Joint hemorrhage - Petechiae - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked thrombocytopenia +What are the symptoms of Crisponi syndrome ?,"What are the signs and symptoms of Crisponi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crisponi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Camptodactyly of finger 90% Full cheeks 90% Hyperhidrosis 90% Hypertonia 90% Hypohidrosis 90% Kyphosis 90% Large face 90% Long philtrum 90% Malignant hyperthermia 90% Respiratory insufficiency 90% Scoliosis 90% Sudden cardiac death 90% Abnormality of the palate 50% Cognitive impairment 50% Limitation of joint mobility 50% Narrow mouth 7.5% Seizures 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Crisponi syndrome +What is (are) TARP syndrome ?,"TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robins sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen. Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.",GARD,TARP syndrome +What are the symptoms of TARP syndrome ?,"What are the signs and symptoms of TARP syndrome? TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: Talipes equinovarus (clubfoot) Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to close Robin sequence Persistence of the left superior vena cava (SVC). More recently, some affected individuals (confirmed by genetic testing) have been described having a more diverse range of signs and symptoms. Two boys from one family with TARP syndrome were born without clubfoot, but had additional features including polydactyly (additional fingers and/or toes); cutaneous syndactyly (webbing of the skin between the fingers and/or toes); and masses on the underside of the tongue (sublingual tongue masses). An individual in another family had only one of the 4 main features. An individual in a third family had only 2 of the 4 features of TARP. Additional abnormalities that have been reported in the medical literature in affected individuals include failure to thrive; abnormal skull shape; round face; short palpebral fissures (decreased width of each eye); small or abnormally-shaped ears; poor muscle tone (hypotonia); developmental delay; eye or visual abnormalities; hearing loss; airway or lung abnormalities; undescended testicles (cryptorchidism); structural brain abnormalities; and intellectual disability. Most affected males have died before birth or shortly after birth. However, in 2011 there was a report of an affected individual who was 3 years, 7 months old and was surviving with intensive medical care. The authors of this report concluded that long-term survival is possible for individuals with TARP syndrome and that older affected individuals may exist. The Human Phenotype Ontology provides the following list of signs and symptoms for TARP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arteriovenous malformation 90% Atria septal defect 90% Cleft palate 90% Glossoptosis 90% Cryptorchidism 50% Low-set, posteriorly rotated ears 50% Optic atrophy 5% Postaxial polydactyly 5% Short sternum 5% Tetralogy of Fallot 5% Tongue nodules 5% Abnormality of the corpus callosum - Anteverted nares - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Clinodactyly - Cutaneous syndactyly - Deep palmar crease - Failure to thrive - High palate - Horseshoe kidney - Hydronephrosis - Hypoplasia of the radius - Intrauterine growth retardation - Large fontanelles - Low-set ears - Microtia - Muscular hypotonia - Posteriorly rotated ears - Prominent antihelix - Short palpebral fissure - Single transverse palmar crease - Talipes equinovarus - Underdeveloped supraorbital ridges - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,TARP syndrome +What causes TARP syndrome ?,"What causes TARP syndrome? TARP syndrome is a genetic condition caused by mutations in the RBM10 gene, which is located on the X chromosome. There is little information available about how mutations in this gene specifically cause TARP syndrome. However, in 2010 researchers showed that the RBM10 gene is expressed in mouse embryos in the branchial arches (embryonic structures that give rise to parts of the head and neck) and limbs, which is consistent with body parts known to be affected in individuals with TARP syndrome. The signs and symptoms of TARP syndrome occur when this gene does not function correctly.",GARD,TARP syndrome +Is TARP syndrome inherited ?,"How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If a female has one mutated copy of RBM10 and one normal copy, she would typically be an unaffected carrier of this condition. Occasionally, female carriers of an X-linked recessive condition may have varying degrees of signs or symptoms of the condition; this is due to differences in X chromosome inactivation. When a female carrier of an X-linked condition has children, each daughter has a 50% (1 in 2) risk to also be a carrier, and a 50% risk to not be a carrier (and have 2 normal copies of the gene). Each son has a 50% risk to be affected and a 50% risk to be unaffected.",GARD,TARP syndrome +How to diagnose TARP syndrome ?,"Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title ""Test for TARP syndrome"" to find out more information about each test. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,TARP syndrome +What is (are) Milroy disease ?,"Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.",GARD,Milroy disease +What are the symptoms of Milroy disease ?,"What are the signs and symptoms of Milroy disease? The most common symptom of Milroy disease is build-up of fluids (lymphedema) in the lower limbs, which is usually present from birth or before birth. However, the degree and distribution of swelling varies among affected people. It sometimes progresses, but may improve in some cases. Other signs and symptoms may include hydrocele and/or urethral abnormalities in males; prominent veins; upslanting toenails; papillomatosis (development of wart-like growths); and cellulitis. Cellulitis may cause additional swelling. The Human Phenotype Ontology provides the following list of signs and symptoms for Milroy disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the amniotic fluid - Abnormality of the nail - Autosomal dominant inheritance - Congenital onset - Hemangioma - Hydrocele testis - Hyperkeratosis over edematous areas - Hypoplasia of lymphatic vessels - Nonimmune hydrops fetalis - Predominantly lower limb lymphedema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Milroy disease +Is Milroy disease inherited ?,"How is Milroy disease inherited? Milroy disease is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most people with Milroy disease have an affected parent, but some cases are due to new mutations that occur for the first time in the affected person. About 10-15% of people with a mutation in the responsible gene do not develop features of the condition. This phenomenon is called reduced penetrance.",GARD,Milroy disease +How to diagnose Milroy disease ?,"Is genetic testing available for Milroy disease? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for Milroy disease. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional. If a mutation in the responsible gene has been identified in a family, genetic testing for at-risk relatives may identify those who may benefit from treatment early in the disease course. Prenatal testing for pregnancies at increased risk may also be available.",GARD,Milroy disease +What are the treatments for Milroy disease ?,"How might Milroy disease be treated? There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. These measures may improve the cosmetic appearance of the affected areas, decrease their size, and reduce the risk of complications. Decongestive physiotherapy, which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, has become the standard of care for primary lymphedema. People with recurrent cellulitis may benefit from prophylactic antibiotics. Surgical intervention is considered a last option when other medical management fails. When possible, people with Milroy disease should avoid: wounds to swollen areas (because of their reduced resistance to infection) long periods of immobility prolonged standing elevation of the affected limb certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people)",GARD,Milroy disease +What are the symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges ?,"What are the signs and symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Anonychia 90% Aplastic/hypoplastic toenail 90% Brachydactyly syndrome 90% Split hand 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Complete duplication of thumb phalanx - High palate - Nail dysplasia - Nail dystrophy - Prominent nasal bridge - Prominent nose - Short 5th finger - Short philtrum - Shortening of all distal phalanges of the fingers - Shortening of all distal phalanges of the toes - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +What is (are) Facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.",GARD,Facioscapulohumeral muscular dystrophy +What are the symptoms of Facioscapulohumeral muscular dystrophy ?,"What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Hyperlordosis 90% Mask-like facies 90% Skeletal muscle atrophy 90% Abnormality of the eyelashes 50% Palpebral edema 50% Sensorineural hearing impairment 50% Abnormality of the retinal vasculature 7.5% Dysphagia 5% Abdominal wall muscle weakness - Autosomal dominant inheritance - Calf muscle hypertrophy - Childhood onset - Elevated serum creatine phosphokinase - External ophthalmoplegia - Exudative retinal detachment - Facial palsy - Intellectual disability - Restrictive respiratory insufficiency - Retinal telangiectasia - Scapular winging - Scapulohumeral muscular dystrophy - Seizures - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Tongue atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Facioscapulohumeral muscular dystrophy +What is (are) EEC syndrome ?,"EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.",GARD,EEC syndrome +What are the symptoms of EEC syndrome ?,"What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Dry skin 90% Lacrimation abnormality 90% Reduced number of teeth 90% Taurodontia 90% Thick eyebrow 90% Aplasia/Hypoplasia of the skin 50% Corneal erosion 50% Inflammatory abnormality of the eye 50% Renal hypoplasia/aplasia 50% Slow-growing hair 50% Abnormality of the eyelid 7.5% Abnormality of the middle ear 7.5% Anterior hypopituitarism 7.5% Aplasia/Hypoplasia of the nipples 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the thymus 7.5% Breast aplasia 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% External ear malformation 7.5% Fine hair 7.5% Finger syndactyly 7.5% Hypohidrosis 7.5% Lymphoma 7.5% Proximal placement of thumb 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Intellectual disability 7% Abnormality of the nasopharynx - Absence of Stensen duct - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Bladder diverticulum - Blepharitis - Blepharophimosis - Blue irides - Broad nasal tip - Carious teeth - Central diabetes insipidus - Choanal atresia - Cleft palate - Cleft upper lip - Coarse facial features - Conductive hearing impairment - Cryptorchidism - Dacrocystitis - Death in infancy - Depressed nasal bridge - Depressed nasal tip - Duplicated collecting system - Ectodermal dysplasia - Fair hair - Flexion contracture - Frontal bossing - Generalized hypopigmentation - Growth hormone deficiency - Hand polydactyly - Hearing impairment - Heterogeneous - High axial triradius - Hoarse voice - Hydronephrosis - Hydroureter - Hyperkeratosis - Hypertelorism - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic nipples - Inguinal hernia - Malar flattening - Microcephaly - Microdontia - Micropenis - Microtia - Nail dystrophy - Nail pits - Oligodontia - Ovarian cyst - Photophobia - Prominent forehead - Rectovaginal fistula - Recurrent respiratory infections - Renal agenesis - Renal dysplasia - Selective tooth agenesis - Semilobar holoprosencephaly - Short digit - Single transverse palmar crease - Sparse axillary hair - Sparse eyebrow - Sparse eyelashes - Sparse pubic hair - Sparse scalp hair - Split foot - Split hand - Telecanthus - Thin skin - Toe syndactyly - Transverse vaginal septum - Ureterocele - Ureterovesical stenosis - Vesicoureteral reflux - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,EEC syndrome +What causes EEC syndrome ?,"What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3). In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1). Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7.",GARD,EEC syndrome +Is EEC syndrome inherited ?,"How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child. EEC syndrome additionally shows reduced penetrance and variable expressivity. Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition. Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).",GARD,EEC syndrome +How to diagnose EEC syndrome ?,"Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,EEC syndrome +"What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ?","What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" +What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?,"Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.",GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +What are the symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?,"What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male hormone) excess such as acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult height. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. Some men and women affected by NCAH have no signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +What causes Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?,"What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of NCAH. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with NCAH have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than the classic form of congenital adrenal hyperplasia.",GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +Is Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited ?,"Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +How to diagnose Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?,How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given.,GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +What are the treatments for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?,"How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism).",GARD,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +What are the symptoms of Cervical hypertrichosis peripheral neuropathy ?,"What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% EMG abnormality 90% Hypertrichosis 90% Osteomyelitis 50% Skin ulcer 50% Anterior cervical hypertrichosis - Autosomal recessive inheritance - Motor polyneuropathy - Sensory neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cervical hypertrichosis peripheral neuropathy +What is (are) Cryptogenic organizing pneumonia ?,"Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of age). The exact underlying cause of the condition is unknown (idiopathic). Treatment varies based on the severity of the condition but generally includes glucocorticoids.",GARD,Cryptogenic organizing pneumonia +What are the symptoms of Cryptogenic organizing pneumonia ?,What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare),GARD,Cryptogenic organizing pneumonia +What causes Cryptogenic organizing pneumonia ?,"What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis.",GARD,Cryptogenic organizing pneumonia +Is Cryptogenic organizing pneumonia inherited ?,"Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP.",GARD,Cryptogenic organizing pneumonia +How to diagnose Cryptogenic organizing pneumonia ?,How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Additional testing such as a computed tomography (CT) scan or lung biopsy can confirm the diagnosis.,GARD,Cryptogenic organizing pneumonia +What are the treatments for Cryptogenic organizing pneumonia ?,"How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms.",GARD,Cryptogenic organizing pneumonia +What are the symptoms of Spastic paraplegia 5B ?,"What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 5B +What are the symptoms of Revesz syndrome ?,"What are the signs and symptoms of Revesz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Revesz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of neutrophils 90% Abnormality of the nail 90% Abnormality of the oral cavity 90% Abnormality of the retinal vasculature 90% Anemia 90% Aplasia/Hypoplasia of the cerebellum 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Premature birth 90% Retinal detachment 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormality of metabolism/homeostasis - Aplastic anemia - Ataxia - Autosomal dominant inheritance - Bone marrow hypocellularity - Cerebellar hypoplasia - Cerebral calcification - Exudative retinopathy - Fine, reticulate skin pigmentation - Hypertonia - Leukocoria - Megalocornea - Nail dystrophy - Nail pits - Nystagmus - Oral leukoplakia - Progressive neurologic deterioration - Ridged fingernail - Sparse hair - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Revesz syndrome +What is (are) Vici syndrome ?,"Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.",GARD,Vici syndrome +What are the symptoms of Vici syndrome ?,"What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vici syndrome +What are the symptoms of STAR syndrome ?,"What are the signs and symptoms of STAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for STAR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% External ear malformation 90% Short stature 90% Toe syndactyly 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of female internal genitalia 50% Abnormality of the cardiac septa 50% Female pseudohermaphroditism 50% Midline defect of the nose 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Telecanthus 50% Thin vermilion border 50% Vesicoureteral reflux 50% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the radius 7.5% Chorioretinal abnormality 7.5% Cleft eyelid 7.5% Mitral stenosis 7.5% Myopia 7.5% Seizures 7.5% Syringomyelia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,STAR syndrome +What is (are) Chronic fatigue syndrome ?,"Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main symptom is disabling fatigue that does not improve with rest. Other signs and symptoms may include muscle pain; joint pain; concentration and memory problems; headaches; sleep problems; fever; sore throat; and/or tender lymph nodes. The cause of chronic fatigue syndrome is not known yet. Some researchers have proposed that this condition is caused by viral infections or by immunological, hormonal or mental or psychiatric problems, but none have been proved. It is also believed that there may be a genetic predisposition for this condition and stress-related events act as triggers. Because the symptoms are similar to many conditions that need to be ruled out, the diagnosis make take some time to be made and patients are frequently misunderstood. Those who are affected are typically highly functioning individuals who are ""struck down"" with this disease. There is still no cure for this condition but there are several clinical trials. Current treatment consists of cognitive and/or behavioral therapy and focuses on improving symptoms and may include medications to treat pain, sleep disorders and other associated problems. There is significant controversy and debate in the medical literature about the relationship between myalgic encephalomyelitis and chronic fatigue syndrome. Unfortunately there is no consensus on nomenclature or classification for these disorders, and different countries, organizations, and researchers continue to use different names to describe these conditions. Until a global consensus is reached on how to name and classify these disorders, confusion will persist.",GARD,Chronic fatigue syndrome +How to diagnose Chronic fatigue syndrome ?,"How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests. The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work, which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat. These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome: Complete blood count with differential count; Chemistry screen; Thyroid stimulating hormone level; Other tests based in the patients symptoms like immunologic tests or serologic tests.",GARD,Chronic fatigue syndrome +What are the treatments for Chronic fatigue syndrome ?,"How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive behavioral therapy (CBT) and graded exercise therapy reportedly appear to produce meaningful benefit. CBT typically involves a series of one-hour sessions designed to alter beliefs and behaviors that might delay recovery. Graded exercise therapy can be beneficial because prolonged lack of exercise may worsen the symptoms of the condition and should be discouraged.[9440] Gradual introduction of regular aerobic exercise, such as walking, swimming, cycling, or jogging, under close medical supervision may reduce fatigue and improve physical function. The goal is to have 30 minutes of light exercise five times a week. To avoid overexertion it is recommended to set a target heart rate range, generally <100 beats per minute. Graded exercise should be always supervised by a physical therapist or exercise therapist. In some studies, women with this condition were found to have low normal fitness on treadmill testing with no indication of heart or lung problems. Maximal testing did not result in worse fatigue or other symptoms. Because many people who have CFS are also depressed, treating the depression can make it easier to cope with the problems associated with CFS. Low doses of some antidepressants may help improve sleep and relieve pain.[6269] A number of medications, special diets and vitamin supplements have been evaluated in individuals with CFS, but none have been proven effective. Although there have been a number of viruses that were initially reported to cause CFS, additional studies have not proven this.[9440] Trials of antiviral agents have been ineffective in relieving the symptoms of CFS. Several clinical trials aiming to find effective treatment are currently ongoing.",GARD,Chronic fatigue syndrome +"What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ?","What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Porokeratosis, disseminated superficial actinic 2" +What are the symptoms of Thyrotoxic periodic paralysis ?,"What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Goiter - Heterogeneous - Hyperthyroidism - Hypokalemia - Muscle weakness - Palpitations - Periodic paralysis - Rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thyrotoxic periodic paralysis +"What is (are) Methylmalonic acidemia with homocystinuria, type cblC ?","Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.",GARD,"Methylmalonic acidemia with homocystinuria, type cblC" +"What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblC ?","What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblC? For both methylmalonic acidemia and methylmalonic acidemia with homocystinuria (MMA+HCU) cblC type signs and symptoms can vary from mild to life-threatening. There have been cases of MMA+HCU cblC type associated with mild symptoms and delayed age at onset (teen to adult years). In most cases however, signs and symptoms of MMA+HCU cblC type present in infancy. Even with early diagnosis and treatment, children with the condition tend to have symptoms affecting vision, growth, and learning. A recent study of 12 children with early onset MMA+HCU CblC type, diagnosed by newborn screening, and treated early with intramuscular hydroxocobalamin, oral betaine, folinic acid, l-carnitine, and dietary protein modification were reported to have developed the following symptoms: Mild to moderate low muscle tone (91%) Quick uncontrollable movements of the eye (nystagmus) with variable affect on vision (75%) Seizure (25%) Small head circumference (17%) Testing of communication, socialization, daily living skills, motor skills, and behavior showed mild to moderate delays in these areas for most children. Socialization was the least affected aspect of development. The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblC. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anorexia 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Infantile onset 50% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Feeding difficulties in infancy - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Methylmalonic acidemia with homocystinuria, type cblC" +What are the symptoms of Dwarfism stiff joint ocular abnormalities ?,"What are the signs and symptoms of Dwarfism stiff joint ocular abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism stiff joint ocular abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Delayed ossification of carpal bones - Disproportionate short-limb short stature - Glaucoma - Hypermetropia - Joint stiffness - Retinal detachment - Severe short stature - Short lower limbs - Short phalanx of finger - Thickened skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dwarfism stiff joint ocular abnormalities +What is (are) Congenitally corrected transposition of the great arteries ?,"Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.",GARD,Congenitally corrected transposition of the great arteries +What causes Congenitally corrected transposition of the great arteries ?,"What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.",GARD,Congenitally corrected transposition of the great arteries +What are the symptoms of Cerebral sarcoma ?,"What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fibrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebral sarcoma +What is (are) Systemic capillary leak syndrome ?,"Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death.",GARD,Systemic capillary leak syndrome +What are the symptoms of Systemic capillary leak syndrome ?,"What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Systemic capillary leak syndrome +What are the treatments for Systemic capillary leak syndrome ?,"How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time. However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the frequency of attacks and may increase survival in individuals affected with this condition.",GARD,Systemic capillary leak syndrome +What is (are) SHORT syndrome ?,"SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.",GARD,SHORT syndrome +What are the symptoms of SHORT syndrome ?,"What are the signs and symptoms of SHORT syndrome? SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. A loss of fat under the skin (lipodystrophy), usually most prominent in the face and upper body, is also a main feature of the syndrome. Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging. Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood. Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life. The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Deeply set eye 90% Hernia of the abdominal wall 90% Joint hypermobility 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of adipose tissue 50% Abnormality of dental enamel 50% Abnormality of the pupil 50% Diabetes mellitus 50% Glaucoma 50% Insulin resistance 50% Malar flattening 50% Megalocornea 50% Microdontia 50% Neurological speech impairment 50% Weight loss 50% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Frontal bossing 7.5% Hand polydactyly 7.5% Hypertelorism 7.5% Hypoplasia of the zygomatic bone 7.5% Myotonia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Posterior embryotoxon 7.5% Prominent supraorbital ridges 7.5% Telecanthus 7.5% Triangular face 7.5% Wide nasal bridge 7.5% Abnormality of the immune system - Autosomal dominant inheritance - Birth length less than 3rd percentile - Cataract - Chin dimple - Clinodactyly - Delayed eruption of teeth - Delayed skeletal maturation - Delayed speech and language development - Dental malocclusion - Enlarged epiphyses - Glucose intolerance - Hyperglycemia - Hypodontia - Inguinal hernia - Insulin-resistant diabetes mellitus - Intrauterine growth retardation - Joint laxity - Lipodystrophy - Macrotia - Myopia - Prominent forehead - Radial deviation of finger - Rieger anomaly - Small for gestational age - Thin skin - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SHORT syndrome +Is SHORT syndrome inherited ?,"How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected.",GARD,SHORT syndrome +How to diagnose SHORT syndrome ?,"How is SHORT syndrome diagnosed? There is no formal criteria for diagnosis yet. The term SHORT syndrome was first created to reflect several of the features of the original reported cases: Short stature, Hyperextensibility, Ocular depression (deeply set eyes), Rieger anomaly, and Teething delay. However, it is now recognized that all of these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome. The features most consistently observed in SHORT syndrome include: Intrauterine growth restriction (IUGR) Short stature Partial lipodystrophy Facial characteristics: Face with triangular shape, prominent forehead, deep-set eyes, nose with a narrow low-hanging tip and thin nasal alae, small chin with a central dimple and large ears that are low-set. Other frequent features include: Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the genetic testing showing a mutation in the PIK3R1 gene.",GARD,SHORT syndrome +"What is (are) Ehlers-Danlos syndrome, progeroid type ?","Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern.",GARD,"Ehlers-Danlos syndrome, progeroid type" +"What are the symptoms of Ehlers-Danlos syndrome, progeroid type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, progeroid type? Ehlers-Danlos syndrome refers to a group of connective tissue disorders characterized by stretchy or kneadable skin, double jointedness, and delayed healing of skin wounds. In addition to these traits, individuals with the progeroid type have thin curly hair, sparse eyebrows and eyelashes, loose elastic skin on the face, and may also have uneven facial features. Although progeroid means ""appearance similar to old age"", individuals with progeroid Ehlers-Danlos syndrome do not actually have premature aging and are not expected to have a shortened life span. Other symptoms may include poor muscle tone, fragile bones from low bone mineral density, abnormal teeth, and infection of gums around the teeth. Children who are affected may have delayed growth, which can result in short stature as an adult (less than 152cm). Mild intellectual disabilities or learning disabilities have also been associated with this disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, progeroid type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of the aortic valve 90% Abnormality of the pulmonary valve 90% Cryptorchidism 90% Epicanthus 90% Flexion contracture 90% Gingivitis 90% Muscular hypotonia 90% Prematurely aged appearance 90% Short stature 90% Testicular torsion 90% Thin skin 90% Abnormal facial shape 50% Abnormality of skin pigmentation 50% Alopecia 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Atypical scarring of skin 50% Reduced bone mineral density 50% Skeletal dysplasia 50% Telecanthus 50% Joint hypermobility 7.5% Absent earlobe - Arachnodactyly - Atrophic scars - Autosomal recessive inheritance - Bifid uvula - Coxa valga - Failure to thrive - Joint laxity - Long toe - Macrocephaly - Narrow chest - Narrow mouth - Osteopenia - Palmoplantar cutis gyrata - Pes planus - Proptosis - Radioulnar synostosis - Short clavicles - Single transverse palmar crease - Slender toe - Small face - Sparse scalp hair - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, progeroid type" +"What causes Ehlers-Danlos syndrome, progeroid type ?","What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.",GARD,"Ehlers-Danlos syndrome, progeroid type" +"Is Ehlers-Danlos syndrome, progeroid type inherited ?","How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual has only one non-functional B4GALT7 gene (such as each parent), he or she is a ""carrier"". Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers for a recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to be affected, a 50% (1 in 2) risk for the child to be a carrier (like each parent) and a 25% risk that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of a nonfunctional B4GALT7 gene.",GARD,"Ehlers-Danlos syndrome, progeroid type" +"What are the treatments for Ehlers-Danlos syndrome, progeroid type ?",How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. Affected individuals with joint pain might benefit from anti-inflammatory drugs. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the chance of accidents to the skin and bone. It is recommended that affected individuals discuss treatment options with their healthcare provider.,GARD,"Ehlers-Danlos syndrome, progeroid type" +What is (are) Exogenous ochronosis ?,"Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may be caused by an effect on tyrosinase (an enzyme located in melanocytes, which are skin cells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.",GARD,Exogenous ochronosis +What is (are) Chandler's syndrome ?,"Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.",GARD,Chandler's syndrome +What causes Chandler's syndrome ?,"What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition. Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. This allows fluid to accumulate in the cornea (corneal edema), leading to blurred vision.",GARD,Chandler's syndrome +Is Chandler's syndrome inherited ?,"Is Chandler's syndrome inherited? While the cause of Chandler's syndrome is unknown, at this time there is no evidence that it is inherited (hereditary).",GARD,Chandler's syndrome +What are the treatments for Chandler's syndrome ?,"How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye. Drugs used to treat glaucoma are classified according to their active ingredient. These include prostaglandin analogs, beta blockers, alpha agonists, and carbonic anhydrase inhibitors. Combination drugs may be necessary for some patients. If these medications do not successfully treat the glaucoma, surgery may be indicated. Trabeculectomy may be used to treat glaucoma. In some cases, multiple procedures may be necessary. The corneal swelling associated with Chandler's syndrome may be treated through a cornea transplant. Further investigation is needed to determine the best way to manage this condition.",GARD,Chandler's syndrome +What are the symptoms of Erythroderma lethal congenital ?,"What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Ichthyosis 90% Malabsorption 90% Respiratory insufficiency 90% Urticaria 90% Autosomal recessive inheritance - Congenital exfoliative erythroderma - Death in infancy - Failure to thrive - Hypoalbuminemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Erythroderma lethal congenital +What are the symptoms of Transient erythroblastopenia of childhood ?,"What are the signs and symptoms of Transient erythroblastopenia of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient erythroblastopenia of childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Transient erythroblastopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transient erythroblastopenia of childhood +What is (are) Nephrocalcinosis ?,"Nephrocalcinosis is a disorder in which there is excess calcium deposited in the kidneys. It is relatively common in premature infants. Individuals may be asymptomatic or have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, an individual may have blood in the urine; fever and chills; nausea and vomiting; or severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms related to nephrocalcinosis may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements; infection; or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome, and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys.",GARD,Nephrocalcinosis +What causes Nephrocalcinosis ?,"What causes nephrocalcinosis? Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include: Primary hyperparathyroidism is the single most common cause of nephrocalcinosis in adults. While nephrocalcinosis is a relatively rare complication (5%), primary hyperparathryroidism is relatively common, especially in the elderly. Rarely, hyperparathyroidism can be associated with multiple endocrine neoplasia type 1 (MEN1). Distal renal tubular acidosis (RTA) is the second most common cause of medullary nephrocalcinosis. hypervitaminosis-D states resulting from excessive treatment of hypoparathyroidism, self-administration of vitamins, and the presence of a granulomatous disease, such as sarcoidosis. Any other cause of hypercalcemia (increased calcium in the blood), particularly when associated with hypercalciuria (increased calcium in the urine). Causes include milk-alkali syndrome (due to excess ingestion of antacids), hyperparathyroidism, and malignant disease. Idiopathic hypercalciuria,a common metabolic disease, is also a known cause. Nephrocalcinosis and renal failure are increasingly being recognized as common complications of phosphate supplementation, particularly in the elderly.Phosphate supplements may contribute to renal calcifications in children with hypophosphatemic rickets. Medullary sponge kidney Rapidly progressive osteoporosis due to immobilization, menopause, aging, or steroids. Primary (familial) hyperoxaluria, or secondary hyperoxaluria due to increased intake of oxalates, increased absorption due to intestinal disease, or ingestion of ethylene glycol. Chronic disorders such as Bartter syndrome, primary hyperaldosteronism, Liddle syndrome, and 11-beta hydroxylase deficiency are associated with reduced urine citrate and tubular damage, leading to calcium deposits. Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions, possibly due to phosphate supplementation for the condition. Premature, sick infants have been observed to develop diffuse nephrocalcinosis, typically when exposed to diuretic therapy or prolonged O 2 therapy. Other causes may include the use of certain medications such as acetazolamide; tuberculosis of the kidney; and infections related to AIDS",GARD,Nephrocalcinosis +Is Nephrocalcinosis inherited ?,"Is nephrocalcinosis inherited? Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited. Some inherited conditions that may be associated with nephrocalcinosis in affected individuals are: Multiple endocrine neoplasia type 1 (MEN1) Familial distal renal tubular acidosis Chronic granulomatous disease Primary hyperoxaluria Bartter syndrome primary hyperaldosteronism Liddle syndrome 11-beta hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH) Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions",GARD,Nephrocalcinosis +What are the treatments for Nephrocalcinosis ?,"How might nephrocalcinosis be treated? Treatment of nephrocalcinosis includes treating the underlying condition causing nephrocalcinosis, if it is known. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys. Measures are usually taken to reduce abnormal levels of calcium, phosphate, and oxalate in the blood. Medications that cause calcium loss are typically stopped. Treatment of hypercalcemia (increased calcium levels in the blood) and hypercalcemic nephropathy typically includes adequate hydration by isotonic sodium chloride (normal saline) solution to reverse hypercalcemia and protect the kidneys. Treatment of macroscopic nephrocalcinosis (calcium deposition that is visible without magnification) may include thiazide diuretics and dietary salt restriction; potassium and magnesium supplementation; and citrate supplementation in idiopathic hypercalciuria (of unknown cause) and in distal renal tubular acidosis. Lessening of nephrocalcinosis may occur over time, but in many cases, such as when it results from primary hyperoxaluria or distal renal tubular acidosis, nephrocalcinosis is largely irreversible. Therefore, early detection and treatment are important. Individuals interested in learning about treatment options for themselves should speak with their health care provider or a nephrologist.",GARD,Nephrocalcinosis +What are the symptoms of Impairment of oral perception ?,"What are the signs and symptoms of Impairment of oral perception? The Human Phenotype Ontology provides the following list of signs and symptoms for Impairment of oral perception. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Drooling - Incoordination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Impairment of oral perception +"What are the symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 ?","What are the signs and symptoms of Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amelogenesis imperfecta - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" +What is (are) Temporomandibular ankylosis ?,"Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.",GARD,Temporomandibular ankylosis +What is (are) Scurvy ?,"Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Treatment consists of vitamin C supplements taken by mouth.",GARD,Scurvy +What are the symptoms of Scurvy ?,"What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scurvy +What is (are) Permanent neonatal diabetes mellitus ?,"Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).",GARD,Permanent neonatal diabetes mellitus +What are the symptoms of Permanent neonatal diabetes mellitus ?,"What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Abnormality of the immune system - Anteverted nares - Autosomal dominant inheritance - Beta-cell dysfunction - Clinodactyly - Diabetes mellitus - Downturned corners of mouth - Hyperglycemia - Hypsarrhythmia - Intrauterine growth retardation - Ketoacidosis - Limb joint contracture - Long philtrum - Motor delay - Muscle weakness - Muscular hypotonia of the trunk - Peripheral neuropathy - Prominent metopic ridge - Ptosis - Radial deviation of finger - Seizures - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Permanent neonatal diabetes mellitus +What is (are) Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ?,"Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.",GARD,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes +What are the symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ?,"What are the signs and symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes? The signs and symptoms of MELAS often appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes may involve temporary muscle weakness on one side of the body, altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function. Many people with MELAS have a buildup of lactic acid in their bodies (lactic acidosis). This can lead to vomiting, abdominal pain, extreme fatigue, muscle weakness, and difficulty breathing. Involuntary muscle spasms, impaired muscle coordination, hearing loss, heart and kidney problems, diabetes, and hormonal imbalances may also occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism 90% Cerebral ischemia 90% Developmental regression 90% EMG abnormality 90% Hemiplegia/hemiparesis 90% Migraine 90% Muscle weakness 90% Myopathy 90% Abdominal pain 50% Amaurosis fugax 50% Anorexia 50% Aplasia/Hypoplasia of the cerebellum 50% Attention deficit hyperactivity disorder 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Decreased body weight 50% Decreased nerve conduction velocity 50% Hallucinations 50% Incoordination 50% Involuntary movements 50% Memory impairment 50% Nausea and vomiting 50% Pancreatitis 50% Ptosis 50% Reduced consciousness/confusion 50% Respiratory insufficiency 50% Sensorineural hearing impairment 50% Short stature 50% Type II diabetes mellitus 50% Visual field defect 50% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of temperature regulation 7.5% Abnormality of the genital system 7.5% Abnormality of the liver 7.5% Abnormality of the macula 7.5% Abnormality of the pinna 7.5% Abnormality of the renal tubule 7.5% Abnormality of visual evoked potentials 7.5% Anterior hypopituitarism 7.5% Aortic dilatation 7.5% Aortic dissection 7.5% Apnea 7.5% Autism 7.5% Carious teeth 7.5% Cataract 7.5% Congestive heart failure 7.5% Constipation 7.5% Delayed skeletal maturation 7.5% EEG abnormality 7.5% Feeding difficulties in infancy 7.5% Gingival overgrowth 7.5% Glomerulopathy 7.5% Goiter 7.5% Hypercalciuria 7.5% Hypertelorism 7.5% Hypertension 7.5% Hyperthyroidism 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypopigmented skin patches 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Mask-like facies 7.5% Microcephaly 7.5% Multiple lipomas 7.5% Muscular hypotonia 7.5% Myalgia 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Nyctalopia 7.5% Ophthalmoparesis 7.5% Optic atrophy 7.5% Paresthesia 7.5% Premature loss of teeth 7.5% Primary adrenal insufficiency 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% Skeletal muscle atrophy 7.5% Spontaneous hematomas 7.5% Sudden cardiac death 7.5% Thyroiditis 7.5% Tremor 7.5% Type I diabetes mellitus 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Bilateral sensorineural hearing impairment - Congenital cataract - Cortical visual impairment - Dementia - Diabetes mellitus - Encephalopathy - Episodic vomiting - Generalized tonic-clonic seizures - Growth abnormality - Hemianopia - Hemiparesis - Lactic acidosis - Left ventricular hypertrophy - Mitochondrial inheritance - Mitochondrial myopathy - Ophthalmoplegia - Progressive sensorineural hearing impairment - Ragged-red muscle fibers - Stroke-like episodes - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes +Is Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ?,"How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. Mitochondria are structures in each cell that turn molecules into energy, and each contain a small amount of DNA. Only egg cells (not sperm cells) contribute mitochondria to offspring, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mtDNA can appear in every generation of a family and can affect both males and females. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the condition results from a new mutation in a mitochondrial gene and occurs in an individual with no history of MELAS in the family.",GARD,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes +How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ?,"What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes +What are the symptoms of Dyschromatosis universalis hereditaria ?,"What are the signs and symptoms of Dyschromatosis universalis hereditaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hyperpigmented/hypopigmented macules - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyschromatosis universalis hereditaria +What is (are) Craniopharyngioma ?,"A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Craniopharyngiomas are thought to arise from remnants of the craniopharyngeal duct and/or Rathke cleft or from metaplasia (abnormal transformation of cells) of squamous epithelial cell remnants of the stomadeum.[orphanet] Craniopharyngioma is treated with surgery alone or by surgery followed by radiation.",GARD,Craniopharyngioma +What are the symptoms of Craniopharyngioma ?,"What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. Damage to the pituitary gland causes hormone imbalances that can lead to excessive thirst and urination (diabetes insipidus) and stunted growth. When the optic nerve is damaged by the tumor, vision problems develop. These defects are often permanent, and may be worse after surgery to remove the tumor. Most patients have at least some visual defects and evidence of decreased hormone production at the time of diagnosis.",GARD,Craniopharyngioma +What causes Craniopharyngioma ?,What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours).,GARD,Craniopharyngioma +What are the treatments for Craniopharyngioma ?,"How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumor has a classic appearance on CT scan, then even a biopsy may not be necessary, if treatment with radiation alone is planned. This tumor is best treated at a center with experience managing craniopharyngiomas.",GARD,Craniopharyngioma +"What are the symptoms of Macular dystrophy, corneal type 1 ?","What are the signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Corneal dystrophy - Juvenile onset - Macular dystrophy - Photophobia - Punctate opacification of the cornea - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Macular dystrophy, corneal type 1" +What is (are) Poland syndrome ?,"Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.",GARD,Poland syndrome +What are the symptoms of Poland syndrome ?,"What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition: Absence of some of the chest muscles. The end of the main chest muscle, where it attaches to the breastbone, is usually missing. The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues. Abnormally short and slightly webbed fingers. Often, the armpit (axillary) hair is missing. The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer. The upper rib cage can be underdeveloped or missing, Sometimes the shoulder blade or bones of the arm are also involved, Rarely, spine or kidney problems are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Poland syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the pectoralis major muscle 90% Aplasia/Hypoplasia of the nipples 90% Asymmetry of the thorax 90% Breast aplasia 90% Brachydactyly syndrome 50% Finger syndactyly 50% Split hand 50% Abnormal dermatoglyphics 7.5% Abnormality of the humerus 7.5% Abnormality of the liver 7.5% Abnormality of the lower limb 7.5% Abnormality of the ribs 7.5% Abnormality of the sternum 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Acute leukemia 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Cone-shaped epiphysis 7.5% Congenital diaphragmatic hernia 7.5% Low posterior hairline 7.5% Microcephaly 7.5% Neoplasm of the breast 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Retinal hamartoma 7.5% Scoliosis 7.5% Short neck 7.5% Situs inversus totalis 7.5% Abnormality of the breast - Absence of pectoralis minor muscle - Autosomal dominant inheritance - Dextrocardia - Hemivertebrae - Hypoplasia of deltoid muscle - Hypoplasia of latissimus dorsi muscle - Hypoplasia of serratus anterior muscle - Rib fusion - Short ribs - Sprengel anomaly - Syndactyly - Unilateral absence of pectoralis major muscle - Unilateral brachydactyly - Unilateral hypoplasia of pectoralis major muscle - Unilateral oligodactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Poland syndrome +What causes Poland syndrome ?,What causes Poland syndrome? The cause of Poland syndrome is unknown. Most evidence supports the idea that something abnormal happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include: An interruption of the embryonic blood supply of the arteries that lie under the collarbone (subclavian arteries). This could be caused by the forward growth of the ribs reducing the flow of blood. A malformation of the subclavian arteries causes a reduced amount of blood delivered to the developing tissues on one side of the body.,GARD,Poland syndrome +Is Poland syndrome inherited ?,"Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).",GARD,Poland syndrome +How to diagnose Poland syndrome ?,"When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.",GARD,Poland syndrome +What are the treatments for Poland syndrome ?,"How might Poland syndrome be treated? Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.",GARD,Poland syndrome +What are the symptoms of Familial ventricular tachycardia ?,"What are the signs and symptoms of Familial ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Paroxysmal ventricular tachycardia - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial ventricular tachycardia +What is (are) Neutral lipid storage disease with myopathy ?,Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.,GARD,Neutral lipid storage disease with myopathy +What are the symptoms of Neutral lipid storage disease with myopathy ?,"What are the signs and symptoms of Neutral lipid storage disease with myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutral lipid storage disease with myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia 5% Cardiomyopathy 5% Diabetes mellitus 5% Hypertriglyceridemia 5% Neck muscle weakness 5% Sensorineural hearing impairment 5% Short stature 5% Adult onset - Autosomal recessive inheritance - Difficulty running - Difficulty walking - Easy fatigability - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Fasciculations - Gowers sign - Hepatic steatosis - Hepatomegaly - Increased muscle lipid content - Muscular hypotonia - Myalgia - Myopathy - Proximal muscle weakness - Slow progression - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neutral lipid storage disease with myopathy +What causes Neutral lipid storage disease with myopathy ?,"What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.",GARD,Neutral lipid storage disease with myopathy +Is Neutral lipid storage disease with myopathy inherited ?,"How is neutral lipid storage disease with myopathy inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Neutral lipid storage disease with myopathy +What are the treatments for Neutral lipid storage disease with myopathy ?,"How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed.",GARD,Neutral lipid storage disease with myopathy +What is (are) Glutaric acidemia type I ?,"Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.",GARD,Glutaric acidemia type I +What are the symptoms of Glutaric acidemia type I ?,"What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood. Some infants with GA1 have a large head circumference (macrocephaly). Other features that may occur in affected people include difficulty moving; experiencing spasms, jerking, rigidity, or decreased muscle tone; and intellectual disability. Stress on the body (such as infection and fever) can cause worsening of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Encephalitis 90% Nausea and vomiting 90% Abnormal facial shape 50% Abnormal joint morphology 50% Abnormality of extrapyramidal motor function 50% Behavioral abnormality 50% Chorea 50% Feeding difficulties in infancy 50% Frontal bossing 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Abnormality of eye movement 7.5% Abnormality of the retinal vasculature 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Developmental regression 7.5% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Malignant hyperthermia 7.5% Migraine 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Seizures 7.5% Vertigo 7.5% Autosomal recessive inheritance - Choreoathetosis - Delayed myelination - Dilation of lateral ventricles - Dystonia - Failure to thrive - Glutaric acidemia - Glutaric aciduria - Hepatomegaly - Hypoglycemia - Infantile encephalopathy - Ketonuria - Ketosis - Metabolic acidosis - Opisthotonus - Rigidity - Spastic diplegia - Symmetrical progressive peripheral demyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glutaric acidemia type I +Is Glutaric acidemia type I inherited ?,"How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.",GARD,Glutaric acidemia type I +How to diagnose Glutaric acidemia type I ?,"Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Glutaric acidemia type I +What is (are) Pyoderma gangrenosum ?,"Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.",GARD,Pyoderma gangrenosum +What are the symptoms of Pyoderma gangrenosum ?,"What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyoderma gangrenosum +What are the treatments for Pyoderma gangrenosum ?,"How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here.",GARD,Pyoderma gangrenosum +What are the symptoms of Hard skin syndrome Parana type ?,"What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hard skin syndrome Parana type +What are the symptoms of Transaldolase deficiency ?,"What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transaldolase deficiency +What is (are) Benign rolandic epilepsy (BRE) ?,"Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as ""benign"" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime. Treatment is usually not prescribed, since the condition tends to disappear by puberty.",GARD,Benign rolandic epilepsy (BRE) +What are the symptoms of Benign rolandic epilepsy (BRE) ?,"What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek. The seizure may also involve the throat which may make speech unclear and difficult to understand. Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs. The child may also be incontinent. After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Benign rolandic epilepsy (BRE) +What causes Benign rolandic epilepsy (BRE) ?,"What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region.",GARD,Benign rolandic epilepsy (BRE) +What are the treatments for Benign rolandic epilepsy (BRE) ?,"What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.",GARD,Benign rolandic epilepsy (BRE) +What is (are) Situs inversus ?,"Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.",GARD,Situs inversus +What are the symptoms of Situs inversus ?,"What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.",GARD,Situs inversus +Is Situs inversus inherited ?,"Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional.",GARD,Situs inversus +How to diagnose Situs inversus ?,"How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).",GARD,Situs inversus +What are the treatments for Situs inversus ?,"How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.",GARD,Situs inversus +What are the symptoms of Amyloidosis corneal ?,"What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blurred vision - Childhood onset - Corneal dystrophy - Photophobia - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyloidosis corneal +How to diagnose Amyloidosis corneal ?,"Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.",GARD,Amyloidosis corneal +What is (are) Pyle disease ?,"Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.",GARD,Pyle disease +What are the symptoms of Pyle disease ?,"What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Genu valgum 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Mandibular prognathia 50% Prominent supraorbital ridges 50% Recurrent fractures 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Abnormality of the thorax - Arthralgia - Autosomal recessive inheritance - Limited elbow extension - Metaphyseal dysplasia - Muscle weakness - Platyspondyly - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyle disease +Is Pyle disease inherited ?,"Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.",GARD,Pyle disease +What is (are) Trisomy 17 mosaicism ?,"Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.",GARD,Trisomy 17 mosaicism +What causes Trisomy 17 mosaicism ?,"What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur?",GARD,Trisomy 17 mosaicism +"What are the symptoms of Macular dystrophy, atypical vitelliform ?","What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Macular dystrophy, atypical vitelliform" +"What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ?","What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis" +What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ?,"What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Cognitive impairment 90% Dolichocephaly 90% Gait disturbance 90% Hearing abnormality 90% Macrocephaly 90% Muscular hypotonia 90% Narrow face 90% Neurological speech impairment 90% Pectus excavatum 90% Prominent nasal bridge 90% Radioulnar synostosis 90% Strabismus 90% Carious teeth 50% Multicystic kidney dysplasia 50% Autosomal recessive inheritance - Dislocated radial head - Generalized hypotonia - Long face - Prominent nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Der Kaloustian Mcintosh Silver syndrome +What are the symptoms of X-linked lymphoproliferative syndrome 2 ?,"What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Decreased antibody level in blood - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked lymphoproliferative syndrome 2 +What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ?,"What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Non-midline cleft lip 90% Abnormality of retinal pigmentation 50% Visual impairment 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ausems Wittebol-Post Hennekam syndrome +What are the symptoms of Ring chromosome 8 ?,"What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ring chromosome 8 +"What are the symptoms of Torticollis, familial ?","What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Torticollis, familial" +What are the symptoms of Langer mesomelic dysplasia ?,"What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the tibia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Langer mesomelic dysplasia +What are the symptoms of Onychodystrophy-anonychia ?,"What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Onychodystrophy-anonychia +What is (are) Relapsing polychondritis ?,"Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.",GARD,Relapsing polychondritis +What are the symptoms of Relapsing polychondritis ?,"What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus ""saddled"" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Relapsing polychondritis +What causes Relapsing polychondritis ?,"What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. ""HLA"" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.",GARD,Relapsing polychondritis +Is Relapsing polychondritis inherited ?,"Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.",GARD,Relapsing polychondritis +How to diagnose Relapsing polychondritis ?,"How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.",GARD,Relapsing polychondritis +What are the treatments for Relapsing polychondritis ?,"How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.",GARD,Relapsing polychondritis +What is (are) Mandibulofacial dysostosis with microcephaly ?,"Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.",GARD,Mandibulofacial dysostosis with microcephaly +What are the symptoms of Mandibulofacial dysostosis with microcephaly ?,"What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. Intellectual disability ranges from mild to severe and is present in almost all affected people. Speech and language problems are also common. Facial abnormalities in affected people may include underdevelopment (hypoplasia) of the midface and cheekbones; a small lower jaw (micrognathia); small and malformed ears; facial asymmetry; and cleft palate. Other head and facial features may include a metopic ridge; up- or downslanting palpebral fissures; a prominent glabella (space between the eyebrows); a broad nasal bridge; a bulbous nasal tip; and an everted lower lip. Abnormalities of the ear canal, ear bones, or inner ear often lead to hearing loss. Affected people can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Other signs and symptoms in some people with MFDM may include esophageal atresia, congenital heart defects, thumb anomalies, and/or short stature. The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibulofacial dysostosis with microcephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Abnormality of the tragus 90% Cleft palate 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Microcephaly 90% Neurological speech impairment 90% Preauricular skin tag 90% Short nose 90% Short stature 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Atresia of the external auditory canal 50% Epicanthus 50% Large earlobe 50% Overfolded helix 50% Preaxial hand polydactyly 50% Telecanthus 50% Trismus 50% Atria septal defect 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Ventricular septal defect 7.5% Esophageal atresia 5% Anteverted nares - Autosomal dominant inheritance - Autosomal recessive inheritance - Choanal atresia - Conductive hearing impairment - Deep philtrum - Delayed speech and language development - Feeding difficulties in infancy - Hypoplasia of midface - Low-set ears - Mandibulofacial dysostosis - Microtia - Respiratory difficulties - Slender finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mandibulofacial dysostosis with microcephaly +What causes Mandibulofacial dysostosis with microcephaly ?,"What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.",GARD,Mandibulofacial dysostosis with microcephaly +Is Mandibulofacial dysostosis with microcephaly inherited ?,"How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.",GARD,Mandibulofacial dysostosis with microcephaly +How to diagnose Mandibulofacial dysostosis with microcephaly ?,"Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Mandibulofacial dysostosis with microcephaly +What are the treatments for Mandibulofacial dysostosis with microcephaly ?,"How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.",GARD,Mandibulofacial dysostosis with microcephaly +What are the symptoms of Limb-girdle muscular dystrophy type 2H ?,"What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Gait disturbance 90% Mask-like facies 90% Myopathy 90% Tall stature 50% Areflexia - Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Centrally nucleated skeletal muscle fibers - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise-induced myalgia - Facial palsy - Gowers sign - Hyporeflexia - Increased variability in muscle fiber diameter - Muscular dystrophy - Neck flexor weakness - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Phenotypic variability - Quadriceps muscle weakness - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb-girdle muscular dystrophy type 2H +What are the symptoms of Chronic myeloid leukemia ?,"What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - Ph-positive acute lymphoblastic leukemia - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic myeloid leukemia +What is (are) WAGR syndrome ?,"WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.",GARD,WAGR syndrome +What are the symptoms of WAGR syndrome ?,"What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,WAGR syndrome +What is (are) Oculocutaneous albinism type 2 ?,"Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.",GARD,Oculocutaneous albinism type 2 +What are the symptoms of Oculocutaneous albinism type 2 ?,"What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculocutaneous albinism type 2 +What is (are) Chiari malformation type 1 ?,"Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.",GARD,Chiari malformation type 1 +What are the symptoms of Chiari malformation type 1 ?,"What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chiari malformation type 1 +What causes Chiari malformation type 1 ?,"What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.",GARD,Chiari malformation type 1 +What are the treatments for Chiari malformation type 1 ?,"How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition.",GARD,Chiari malformation type 1 +What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?,"Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.",GARD,Neonatal intrahepatic cholestasis caused by citrin deficiency +What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ?,"What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II. The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neonatal intrahepatic cholestasis caused by citrin deficiency +What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ?,"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications.",GARD,Autosomal dominant nocturnal frontal lobe epilepsy +What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ?,"What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant nocturnal frontal lobe epilepsy +How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ?,"How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist.",GARD,Autosomal dominant nocturnal frontal lobe epilepsy +What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ?,"What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus +What are the symptoms of Ectrodactyly polydactyly ?,"What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectrodactyly polydactyly +What are the symptoms of Schisis association ?,"What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly 90% Cleft palate 90% Non-midline cleft lip 90% Omphalocele 90% Congenital diaphragmatic hernia 50% Encephalocele 50% Spina bifida 50% Microcephaly 7.5% Micromelia 7.5% Renal hypoplasia/aplasia 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schisis association +What are the symptoms of Congenital intrauterine infection-like syndrome ?,"What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital intrauterine infection-like syndrome +What are the symptoms of Focal facial dermal dysplasia ?,"What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Focal facial dermal dysplasia +What is (are) Henoch-Schonlein purpura ?,"Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed.",GARD,Henoch-Schonlein purpura +What are the symptoms of Henoch-Schonlein purpura ?,"What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Henoch-Schonlein purpura +Is Henoch-Schonlein purpura inherited ?,Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven.,GARD,Henoch-Schonlein purpura +What are the treatments for Henoch-Schonlein purpura ?,"What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems.",GARD,Henoch-Schonlein purpura +"What are the symptoms of Follicle-stimulating hormone deficiency, isolated ?","What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased muscle mass 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased testicular size - Delayed skeletal maturation - Infertility - Primary amenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Follicle-stimulating hormone deficiency, isolated" +What is (are) Ulcerative proctitis ?,"Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes.",GARD,Ulcerative proctitis +What is (are) Common variable immunodeficiency ?,"Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections.",GARD,Common variable immunodeficiency +What are the symptoms of Common variable immunodeficiency ?,"What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Common variable immunodeficiency +What causes Common variable immunodeficiency ?,"What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and ""mark"" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner.",GARD,Common variable immunodeficiency +What are the treatments for Common variable immunodeficiency ?,"How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.",GARD,Common variable immunodeficiency +"What are the symptoms of Mannosidosis, beta A, lysosomal ?","What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Mannosidosis, beta A, lysosomal" +What are the symptoms of SLC4A1-associated distal renal tubular acidosis ?,"What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SLC4A1-associated distal renal tubular acidosis +What are the symptoms of Lenz Majewski hyperostotic dwarfism ?,"What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of dental enamel 90% Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Broad forehead 90% Choanal atresia 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Cutis laxa 90% Delayed skeletal maturation 90% Finger syndactyly 90% Hypertelorism 90% Increased bone mineral density 90% Joint hypermobility 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Prematurely aged appearance 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the metacarpal bones 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hernia of the abdominal wall 50% Humeroradial synostosis 50% Lacrimation abnormality 50% Thick lower lip vermilion 50% Wide mouth 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Facial palsy 7.5% Hydrocephalus 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Microcephaly 5% Abnormality of the teeth - Agenesis of corpus callosum - Anteriorly placed anus - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Broad clavicles - Broad ribs - Choanal stenosis - Chordee - Cutis marmorata - Delayed cranial suture closure - Diaphyseal thickening - Elbow flexion contracture - Failure to thrive - Flared metaphysis - Frontal bossing - Hyperextensibility of the finger joints - Hypospadias - Inguinal hernia - Intellectual disability - Intellectual disability, moderate - Intrauterine growth retardation - Knee flexion contracture - Lacrimal duct stenosis - Large fontanelles - Microglossia - Progressive sclerosis of skull base - Prominent forehead - Prominent scalp veins - Proximal symphalangism (hands) - Relative macrocephaly - Sensorineural hearing impairment - Sparse hair - Sporadic - Syndactyly - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lenz Majewski hyperostotic dwarfism +What is (are) Familial hyperinsulinism ?,"Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.",GARD,Familial hyperinsulinism +What are the symptoms of Familial hyperinsulinism ?,"What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hyperinsulinism +What is (are) Septo-optic dysplasia ?,"Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.",GARD,Septo-optic dysplasia +What are the symptoms of Septo-optic dysplasia ?,"What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Septo-optic dysplasia +What causes Septo-optic dysplasia ?,"What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.",GARD,Septo-optic dysplasia +Is Septo-optic dysplasia inherited ?,Is septo-optic dysplasia inherited?,GARD,Septo-optic dysplasia +What are the treatments for Septo-optic dysplasia ?,"Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required.",GARD,Septo-optic dysplasia +What are the symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism ?,"What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Abnormality of the hypothalamus-pituitary axis 90% Decreased fertility 90% Gynecomastia 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Optic atrophy 90% Hemiplegia/hemiparesis 50% Muscular hypotonia 50% Abnormality of calvarial morphology 7.5% Behavioral abnormality 7.5% Clinodactyly of the 5th finger 7.5% Developmental regression 7.5% Short stature 7.5% Supernumerary nipple 7.5% Oligomenorrhea 5% Abnormality of metabolism/homeostasis - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Chorioretinal dystrophy - Dementia - Dysarthria - Hypogonadotrophic hypogonadism - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebellar ataxia and hypogonadotropic hypogonadism +"What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ?","Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.",GARD,"Prader-Willi habitus, osteopenia, and camptodactyly" +"What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ?","What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Prader-Willi habitus, osteopenia, and camptodactyly" +What is (are) Glanzmann thrombasthenia ?,"Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.",GARD,Glanzmann thrombasthenia +What are the symptoms of Glanzmann thrombasthenia ?,"What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glanzmann thrombasthenia +What are the symptoms of Ectodermal dysplasia adrenal cyst ?,"What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ectodermal dysplasia adrenal cyst +What is (are) Intracranial arteriovenous malformation ?,"Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery.",GARD,Intracranial arteriovenous malformation +What are the symptoms of Intellectual disability - athetosis - microphthalmia ?,"What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of thumb phalanx 90% Broad forehead 90% Chin dimple 90% Cognitive impairment 90% Facial cleft 90% Frontal bossing 90% Hypertelorism 90% Hypertonia 90% Hypoplasia of the ear cartilage 90% Large earlobe 90% Malar flattening 90% Microcephaly 90% Reduced number of teeth 90% Scoliosis 90% Single transverse palmar crease 90% Supernumerary nipple 90% Telecanthus 90% Abnormality of the palate 50% Abnormality of the thorax 50% Aplasia/Hypoplasia affecting the eye 50% Blue sclerae 50% Camptodactyly of finger 50% Facial asymmetry 50% Iris coloboma 50% Lip pit 50% Mandibular prognathia 50% Preauricular skin tag 50% Seizures 50% Strabismus 50% Tapered finger 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intellectual disability - athetosis - microphthalmia +What are the symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia ?,"What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Cataract 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Visual impairment 90% Alopecia totalis - Amniotic constriction ring - Autosomal recessive inheritance - Camptodactyly of finger - Congenital cataract - Dry skin - Facial erythema - Hyperkeratosis - Nail dysplasia - Nail dystrophy - Palmoplantar hyperkeratosis - Sclerodactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive palmoplantar keratoderma and congenital alopecia +What is (are) Narcolepsy ?,"Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called ""sleep attacks"") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may include cataplexy (a sudden loss of muscle tone that makes a person go limp or unable to move); vivid dream-like images or hallucinations; and/or total paralysis just before falling asleep or after waking-up. Narcolepsy may have several causes, the most common being low levels of the neurotransmitter hypocretin (for various possible reasons). The disorder is usually sporadic but some cases are familial. There is no cure, but some symptoms can be managed with medicines and lifestyle changes.",GARD,Narcolepsy +What are the symptoms of Narcolepsy ?,"What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hallucinations 90% Memory impairment 90% Muscle weakness 90% Reduced consciousness/confusion 90% Sleep disturbance 90% Abnormality of eye movement 50% Neurological speech impairment 7.5% Obesity 7.5% Sudden cardiac death 7.5% Abnormal rapid eye movement (REM) sleep - Autosomal dominant inheritance - Cataplexy - Excessive daytime sleepiness - Heterogeneous - Hypnagogic hallucinations - Hypnopompic hallucinations - Narcolepsy - Paroxysmal drowsiness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Narcolepsy +How to diagnose Narcolepsy ?,"How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems. While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years. Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis. People with narcolepsy often have extremely low levels of hypocretin in their CSF. In some cases, human leukocyte antigen (HLA) typing may be helpful.",GARD,Narcolepsy +What are the treatments for Narcolepsy ?,"How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site.",GARD,Narcolepsy +What are the symptoms of Kerion celsi ?,"What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kerion celsi +What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ?,"What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Distal amyotrophy - Peripheral axonal neuropathy - Pes cavus - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia autosomal recessive with axonal neuropathy +What are the symptoms of Deafness oligodontia syndrome ?,"What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced number of teeth 90% Sensorineural hearing impairment 90% Vertigo 50% Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Diastema - Oligodontia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness oligodontia syndrome +What is (are) Bronchiolitis obliterans ?,"Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. This leads to extensive scarring that blocks the airways, leading to a dry cough, shortness of breath, fatigue and wheezing in the absence of a cold or asthma. While there is no way to reverse the disease, treatments are available to stabilize or slow the progression. Another similarly named disease, bronchiolitis obliterans organizing pneumonia, is a completely different disease.",GARD,Bronchiolitis obliterans +What are the symptoms of Bronchiolitis obliterans ?,"What are the signs and symptoms of bronchiolitis obliterans? Bronchiolitis obliterans is characterized by a dry cough and shortness of breath which develop 2 to 8 weeks after toxic fume exposure or a respiratory illness. Fatigue and wheezing in the absence of a cold or asthma may also be noted. While high resolution chest CT scans and pulmonary function tests may help to detect bronchiolitis obliterans, a surgical lung biopsy is the most definitive way to diagnose the disease.",GARD,Bronchiolitis obliterans +What are the treatments for Bronchiolitis obliterans ?,"How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. If left untreated, bronchiolitis obliterans can be fatal.",GARD,Bronchiolitis obliterans +What are the symptoms of Spondylometaphyseal dysplasia Algerian type ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Genu valgum 90% Micromelia 90% Myopia 90% Anterior rib cupping - Autosomal dominant inheritance - Bowed humerus - Carpal bone hypoplasia - Coxa vara - Flared femoral metaphysis - Hypoplasia of proximal radius - Hypoplastic pelvis - Kyphoscoliosis - Lumbar hyperlordosis - Metaphyseal dysplasia - Platyspondyly - Severe short stature - Short sacroiliac notch - Short tubular bones (hand) - Spondylometaphyseal dysplasia - Tibial metaphyseal irregularity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia Algerian type +What are the symptoms of Onychotrichodysplasia and neutropenia ?,"What are the signs and symptoms of Onychotrichodysplasia and neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychotrichodysplasia and neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chronic irritative conjunctivitis - Concave nail - Curly eyelashes - Curly hair - Hypoplastic fingernail - Intellectual disability, mild - Lymphocytosis - Neutropenia - Recurrent infections - Short eyelashes - Sparse pubic hair - Trichorrhexis nodosa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Onychotrichodysplasia and neutropenia +What is (are) Congenital chloride diarrhea ?,"Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride.",GARD,Congenital chloride diarrhea +What are the symptoms of Congenital chloride diarrhea ?,"What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal distention - Abnormality of the cardiovascular system - Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Growth delay - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypochloremia - Hypokalemia - Hyponatremia - Metabolic alkalosis - Polyhydramnios - Premature birth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital chloride diarrhea +What are the treatments for Congenital chloride diarrhea ?,"How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment.",GARD,Congenital chloride diarrhea +What are the symptoms of Teebi Kaurah syndrome ?,"What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anonychia 90% Aplastic/hypoplastic toenail 90% Microcephaly 50% Single transverse palmar crease 50% Carious teeth 7.5% Clinodactyly of the 5th finger 7.5% Sloping forehead 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Teebi Kaurah syndrome +What is (are) Hereditary neuralgic amyotrophy ?,"Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.). Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene. It is inherited in an autosomal dominant fashion.",GARD,Hereditary neuralgic amyotrophy +What are the symptoms of Hereditary neuralgic amyotrophy ?,"What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% EMG abnormality 90% Muscle weakness 90% Polyneuropathy 90% Paresthesia 50% Sprengel anomaly 50% Acrocyanosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Oral cleft 7.5% Respiratory insufficiency 7.5% Round face 7.5% Short stature 7.5% Sleep disturbance 7.5% Hyporeflexia 5% Autosomal dominant inheritance - Axonal degeneration - Blepharophimosis - Brachial plexus neuropathy - Cleft palate - Deeply set eye - Depressed nasal bridge - Epicanthus - Facial asymmetry - Hypotelorism - Low-set ears - Peripheral neuropathy - Ptosis - Skeletal muscle atrophy - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary neuralgic amyotrophy +What is (are) Osteogenesis imperfecta type III ?,"Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,Osteogenesis imperfecta type III +What are the symptoms of Osteogenesis imperfecta type III ?,"What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Abnormality of the thorax - Autosomal dominant inheritance - Autosomal recessive inheritance - Basilar impression - Biconcave vertebral bodies - Blue sclerae - Bowing of limbs due to multiple fractures - Decreased calvarial ossification - Dentinogenesis imperfecta - Frontal bossing - Hearing impairment - Kyphosis - Multiple prenatal fractures - Neonatal short-limb short stature - Platybasia - Protrusio acetabuli - Pulmonary hypertension - Recurrent fractures - Scoliosis - Severe generalized osteoporosis - Slender long bone - Tibial bowing - Triangular face - Wide anterior fontanel - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type III +What are the symptoms of Reducing body myopathy ?,"What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reducing body myopathy +What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ?,"What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Ambiguous genitalia, male - Arnold-Chiari type I malformation - Autosomal recessive inheritance - Blepharophimosis - Camptodactyly - Cleft palate - Craniosynostosis - Cryptorchidism - Decreased palmar creases - Dolichocephaly - Epicanthus - Feeding difficulties in infancy - Glabellar hemangioma - Hand clenching - Hydronephrosis - Hypertelorism - Hypertonia - Hypoplasia of midface - Hypoplastic philtrum - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Intestinal malrotation - Joint contracture of the hand - Long philtrum - Low-set ears - Malar flattening - Micropenis - Microtia - Multiple joint contractures - Multiple small bowel atresias - Narrow chest - Omphalocele - Pectus carinatum - Pectus excavatum - Ptosis - Sensorineural hearing impairment - Short columella - Short nose - Slender finger - Smooth philtrum - Stenosis of the external auditory canal - Strabismus - Supernumerary nipple - Thin vermilion border - Trigonocephaly - Turricephaly - Umbilical hernia - Upslanted palpebral fissure - Ventricular septal defect - Vesicoureteral reflux - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Craniosynostosis-mental retardation syndrome of Lin and Gettig +What are the symptoms of Cerebral gigantism jaw cysts ?,"What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Bone cyst 90% Cerebral calcification 90% EEG abnormality 90% Macrocephaly 90% Tall stature 90% Incoordination 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebral gigantism jaw cysts +What is (are) Multiple endocrine neoplasia type 1 ?,"Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often ""functional"" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.",GARD,Multiple endocrine neoplasia type 1 +What are the symptoms of Multiple endocrine neoplasia type 1 ?,"What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often ""functional"" and secrete excess hormones, which causes many of the different signs and symptoms of the condition. A variety of non-endocrine tumors are also found in MEN1, including lipomas (fatty tumors); and tumors of the skin or the central nervous system (brain and spinal cord). Signs and symptoms of MEN1 vary and largely depend on which endocrine glands are affected: Parathyroid tumors are present in 90% of people with MEN1 by age 20-25 years and may cause fatigue, depression, weight loss, constipation, nausea, vomiting, dehydration, kidney stones, fragile bones, and hypertension. Pituitary tumors can lead to headaches, vision problems, nausea and vomiting. In women, menstrual periods may become irregular or stop completely. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction. Stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors can cause high blood sugar, weight loss, glossitis, anemia, diarrhea, blood clots, and skin rash. Adrenal tumors can cause a variety of symptoms depending on the type of hormones they secrete, including high blood pressure, irregular heartbeat, panic attacks, headaches, diabetes, abdominal pain, weakness, excessive hair growth, and stretch marks. Carcinoid tumors (slow-growing tumors that usually begin in the lining of the lungs or the digestive tract can cause flushing of the face and upper chest; diarrhea; and trouble breathing. The tumors that develop in MEN1 are often benign; however, in some cases, they can become malignant (cancerous). Gastrinomas (a specific type of GEP tract tumor) and carcinoid tumors are the most likely to advance to cancer. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exocrine pancreatic insufficiency 90% Hypercalcemia 90% Hyperparathyroidism 90% Abnormality of the gastric mucosa 50% Abnormality of the thyroid gland 50% Hypercortisolism 50% Multiple lipomas 50% Adenoma sebaceum - Adrenocortical adenoma - Autosomal dominant inheritance - Cafe-au-lait spot - Carcinoid tumor - Confetti-like hypopigmented macules - Diarrhea - Esophagitis - Glucagonoma - Growth hormone excess - Hypoglycemia - Insulinoma - Parathyroid adenoma - Peptic ulcer - Pituitary adenoma - Pituitary prolactin cell adenoma - Subcutaneous lipoma - Zollinger-Ellison syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple endocrine neoplasia type 1 +What causes Multiple endocrine neoplasia type 1 ?,"What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1.",GARD,Multiple endocrine neoplasia type 1 +Is Multiple endocrine neoplasia type 1 inherited ?,"How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Multiple endocrine neoplasia type 1 +How to diagnose Multiple endocrine neoplasia type 1 ?,"Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is multiple endocrine neoplasia, type 1 diagnosed? A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis. In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis.",GARD,Multiple endocrine neoplasia type 1 +What are the treatments for Multiple endocrine neoplasia type 1 ?,"How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. Recommended screening includes specific types of imaging studies every 3-5 years: Head magnetic resonance imaging (MRI scan) begining at age 5. Abdominal computed tomography (CT scan) or abdominal MRI scan beginning at age 20. Annual blood tests are also recommended, which evaluate the levels of certain substances that can be elevated if an MEN1-associated tumor is present: Prolactin concentrations, which can be used to screen for pituitary tumors, are measured beginning at age 5. Calcium concentrations, which can be used to screen for parathyroid tumors, are measured beginning at age 8. Gastrin concentrations, which can be used to screen for gastrinomas (a specific type of gastro-entero-pancreatic tract tumor) are measured beginning at age 20. When a tumor is detected through screening, the best treatment options depend on many factors, including the size, location, and type of tumor; and whether or not the tumor is ""functional"" (releasing hormones). Many tumors are treated with surgery. If a tumor is functional, removal of the affected endocrine gland often resolves health problems that may be present as a result of elevated hormones. In some cases, functional tumors can be treated with medications that block the function or lower the levels of the overproduced hormone. Chemotherapy or radiation therapy may also be used to to shrink or destroy tumors.",GARD,Multiple endocrine neoplasia type 1 +What is (are) Galloway-Mowat syndrome ?,"Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present.",GARD,Galloway-Mowat syndrome +What are the symptoms of Galloway-Mowat syndrome ?,"What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypoplasia of the ear cartilage 90% Microcephaly 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Abnormality of neuronal migration 50% EEG abnormality 50% Intrauterine growth retardation 50% Macrotia 50% Premature birth 50% Seizures 50% Short stature 50% Abnormality of immune system physiology 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the teeth 7.5% Adducted thumb 7.5% Aqueductal stenosis 7.5% Camptodactyly of finger 7.5% Hemiplegia/hemiparesis 7.5% Hypertelorism 7.5% Hypertonia 7.5% Hypotelorism 7.5% Muscular hypotonia 7.5% Ataxia 5% Dandy-Walker malformation 5% Dystonia 5% Feeding difficulties 5% Spastic tetraplegia 5% Autosomal recessive inheritance - Camptodactyly - Cataract - Cerebellar atrophy - Cerebral atrophy - Diffuse mesangial sclerosis - Epicanthus - Flat occiput - Focal segmental glomerulosclerosis - Hand clenching - Hiatus hernia - High palate - Hyperreflexia - Hypoalbuminemia - Hypopigmentation of the skin - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Infantile onset - Intellectual disability - Joint contracture of the hand - Low-set ears - Microphthalmia - Narrow nasal ridge - Nystagmus - Oligohydramnios - Opacification of the corneal stroma - Optic atrophy - Pachygyria - Pes cavus - Prominent nose - Ptosis - Slender finger - Sloping forehead - Small for gestational age - Small nail - Strabismus - Talipes equinovarus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Galloway-Mowat syndrome +Is Galloway-Mowat syndrome inherited ?,"How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier",GARD,Galloway-Mowat syndrome +How to diagnose Galloway-Mowat syndrome ?,"Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Galloway-Mowat syndrome +What is (are) Hashimoto's syndrome ?,"Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.",GARD,Hashimoto's syndrome +What are the symptoms of Hashimoto's syndrome ?,"What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmune antibody positivity - Autosomal dominant inheritance - Hashimoto thyroiditis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hashimoto's syndrome +What causes Hashimoto's syndrome ?,"What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies ""attack"" the thyroid, resulting in damage to the gland. Most of the genes associated with Hashimotos syndrome are part of a gene family called the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from proteins made by viruses and bacteria or other agents. However, the genetic factors have only a small effect on a person's overall risk of developing this condition. Non-genetic factors that may trigger the condition in people at risk may include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).",GARD,Hashimoto's syndrome +Is Hashimoto's syndrome inherited ?,"Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a person's risk of developing the condition.",GARD,Hashimoto's syndrome +What are the symptoms of Spondylometaphyseal dysplasia Sedaghatian type ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Delayed skeletal maturation 90% Platyspondyly 90% Sprengel anomaly 90% Sudden cardiac death 90% Narrow chest 50% Accelerated skeletal maturation 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% 11 pairs of ribs - Atria septal defect - Autosomal recessive inheritance - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Cupped ribs - Delayed epiphyseal ossification - Depressed nasal bridge - Flared iliac wings - Flat acetabular roof - Focal lissencephaly - Iliac crest serration - Irregular tarsal bones - Large posterior fontanelle - Long fibula - Metaphyseal cupping - Metaphyseal irregularity - Muscular hypotonia - Narrow greater sacrosciatic notches - Porencephaly - Posteriorly rotated ears - Redundant skin - Rhizomelia - Short finger - Short long bone - Short metacarpal - Short neck - Short phalanx of finger - Short ribs - Short toe - Spondylometaphyseal dysplasia - Talipes equinovarus - Turricephaly - Widened sacrosciatic notch - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia Sedaghatian type +What is (are) Congenital mirror movement disorder ?,"Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown.",GARD,Congenital mirror movement disorder +What are the symptoms of Congenital mirror movement disorder ?,"What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incomplete penetrance 50% Autosomal dominant inheritance - Bimanual synkinesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital mirror movement disorder +What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ?,"Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet.",GARD,Medium-chain acyl-coenzyme A dehydrogenase deficiency +What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ?,"What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to MCADD occurs during adulthood. The signs and symptoms of MCADD can be triggered by periods of fasting, or during illnesses such as viral infections, particularly when eating is reduced. People with MCADD are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden, unexpected death. The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain acyl-coenzyme A dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral edema - Coma - Decreased plasma carnitine - Elevated hepatic transaminases - Hepatic steatosis - Hepatomegaly - Hyperglycinuria - Hypoglycemia - Lethargy - Medium chain dicarboxylic aciduria - Muscular hypotonia - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Medium-chain acyl-coenzyme A dehydrogenase deficiency +What causes Medium-chain acyl-coenzyme A dehydrogenase deficiency ?,"What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, medium-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications.",GARD,Medium-chain acyl-coenzyme A dehydrogenase deficiency +Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ?,"How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the parents of a person with an autosomal recessive condition each have one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.",GARD,Medium-chain acyl-coenzyme A dehydrogenase deficiency +How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ?,"How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarnitine profile and an evaluation of organic acids in the urine. The diagnosis can also be confirmed by genetic testing.",GARD,Medium-chain acyl-coenzyme A dehydrogenase deficiency +What are the symptoms of Geleophysic dwarfism ?,"What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Full cheeks 90% Hypertelorism 90% Limitation of joint mobility 90% Long philtrum 90% Round face 90% Short nose 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the aortic valve 50% Abnormality of the tricuspid valve 50% Abnormality of the voice 50% Atria septal defect 50% Blepharophimosis 50% Hearing impairment 50% Hepatomegaly 50% Intrauterine growth retardation 50% Micromelia 50% Mitral stenosis 50% Otitis media 50% Platyspondyly 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Round ear 50% Thickened skin 50% Abnormality of the larynx 7.5% Apnea 7.5% Cognitive impairment 7.5% Pulmonary hypertension 7.5% Tracheal stenosis 7.5% Aortic valve stenosis - Autosomal recessive inheritance - Camptodactyly of finger - Congestive heart failure - Coxa valga - High pitched voice - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Joint stiffness - J-shaped sella turcica - Lack of skin elasticity - Osteopenia - Pectus excavatum - Seizures - Short foot - Short long bone - Short metacarpals with rounded proximal ends - Short palm - Small nail - Smooth philtrum - Thickened helices - Tricuspid stenosis - Upslanted palpebral fissure - Wide mouth - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Geleophysic dwarfism +What is (are) Guttate psoriasis ?,"Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.",GARD,Guttate psoriasis +What are the treatments for Guttate psoriasis ?,"How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment.",GARD,Guttate psoriasis +What is (are) Reticulohistiocytoma ?,"Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. The stimulus that causes the immune system to react in RH is currently not well understood. RH present as a yellow to reddish-brown smooth surfaced, firm nodule or lesion on the trunk and/or extremities of the body. Historically, RH has been found in young adults, with a slightly higher incidence in males. RH typically resolve spontaneously over a period of months to years, are not associated with systemic disease, and do not otherwise affect health. Treatment involves surgical removal of the lesion.",GARD,Reticulohistiocytoma +What causes Reticulohistiocytoma ?,"What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known.",GARD,Reticulohistiocytoma +How to diagnose Reticulohistiocytoma ?,"How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis.",GARD,Reticulohistiocytoma +What are the treatments for Reticulohistiocytoma ?,"How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure.",GARD,Reticulohistiocytoma +What are the symptoms of Mental retardation X-linked syndromic 11 ?,"What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Blepharophimosis 90% Coarse facial features 90% Cognitive impairment 90% Macroorchidism 90% Macrotia 90% Neurological speech impairment 90% Obesity 90% Palpebral edema 90% Prominent supraorbital ridges 90% Seizures 7.5% Bulbous nose - Intellectual disability, moderate - Periorbital fullness - Specific learning disability - Thick lower lip vermilion - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mental retardation X-linked syndromic 11 +What is (are) Hereditary multiple osteochondromas ?,"Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern.",GARD,Hereditary multiple osteochondromas +What are the symptoms of Hereditary multiple osteochondromas ?,"What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the humerus 90% Abnormality of the tibia 90% Abnormality of the femur 50% Abnormality of the metaphyses 50% Abnormality of the teeth 50% Abnormality of the ulna 50% Anteverted nares 50% Aplasia/Hypoplasia of the radius 50% Aseptic necrosis 50% Bone pain 50% Chondrocalcinosis 50% Cranial nerve paralysis 50% Exostoses 50% Genu valgum 50% Madelung deformity 50% Micromelia 50% Muscle weakness 50% Short stature 50% Abnormal pyramidal signs 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the pericardium 7.5% Aneurysm 7.5% Elbow dislocation 7.5% Hemiplegia/hemiparesis 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Synostosis of joints 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary multiple osteochondromas +Is Hereditary multiple osteochondromas inherited ?,"How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the condition in their family. Most affected individuals (96%) that have inherited a gene mutation from their parent show signs and symptoms of this condition. However, the family history may appear negative because of the failure to recognize the disorder in family members and/or reduced penetrance. Reports have suggested that some females may not show clinical features of HMO but still have the gene mutation that causes this condition.",GARD,Hereditary multiple osteochondromas +How to diagnose Hereditary multiple osteochondromas ?,"Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here. To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you. How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed? Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy. What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)? A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick). Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs. Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)? At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk. However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women. The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings. The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques.",GARD,Hereditary multiple osteochondromas +What are the treatments for Hereditary multiple osteochondromas ?,"How might hereditary multiple osteochondromas (HMO) be treated? Currently, there is no known medical treatment for HMO. Osteochondromas are not usually removed because they stop growing around age 12. Another consideration is how close the tumor is to the affected bone's growth plate, because surgery can affect how the bone grows. Surgery may be considered, however, if an osteochondroma is causing pain, bone fracture, nerve irritation, or if the tumor continues to grow after the person's bones have stopped growing. The surgical treatment of choice is complete removal of the tumor. Depending on the location of the osteochondroma, this may be relatively simple. However, if an osteochondroma is close to nerves and blood vessels, this may make surgery difficult and risky. Surgery may also be necessary to correct painful limb abnormalities that are caused by multiple osteochondromas. Surgery may be needed to cut and realign the bones that have become deformed, which is known as osteotomy. If the legs are not equal in length, treatment may include a procedure to slow down the growth of the longer leg. Surgery may also be needed to correct the forearm deformity seen in this condition. Adults with this condition who have untreated forearm deformities usually do not have significant functional limitations. Although rare, an osteochondroma can become cancerous (malignant), which usually takes the form of a low grade chondrosarcoma. This type of malignant tumor is unlikely to spread elsewhere in the body. Higher grades of cancer can occur, but this is even more uncommon. In that case, other therapies, such as chemotherapy and radiation, may be used in treatment. GeneReviews provides more information about treatment for hereditary multiple osteochondromas. How might a malignant transformation in hereditary multiple exostoses (HME) be treated? Chondrosarcomas in a person with HME tend to be well differentiated and low grade tumors. The tumors usually grow slowly and do not readily metastasize. Surgical removal is the recommended treatment as the condrosarcomas do not respond to radiation or chemotherapy. The prognosis or long term outlook after surgical removal of the chondrosarcoma for a person with HME is good as long as the tumor has not metastasized.",GARD,Hereditary multiple osteochondromas +What is (are) Von Hippel-Lindau disease ?,"Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.",GARD,Von Hippel-Lindau disease +What are the symptoms of Von Hippel-Lindau disease ?,"What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of mortality. The Human Phenotype Ontology provides the following list of signs and symptoms for Von Hippel-Lindau disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Abnormality of the retinal vasculature 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Neurological speech impairment 90% Nystagmus 90% Pancreatic cysts 90% Renal neoplasm 90% Sensorineural hearing impairment 90% Visceral angiomatosis 90% Gait disturbance 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Incoordination 50% Migraine 50% Multicystic kidney dysplasia 50% Nausea and vomiting 50% Telangiectasia of the skin 50% Visual impairment 50% Abnormality of the lymphatic system 7.5% Abnormality of the macula 7.5% Arrhythmia 7.5% Cataract 7.5% Glaucoma 7.5% Hyperhidrosis 7.5% Hypertensive crisis 7.5% Increased intracranial pressure 7.5% Neoplasm of the middle ear 7.5% Neuroendocrine neoplasm 7.5% Polycystic kidney dysplasia 7.5% Retinal detachment 7.5% Abnormality of the liver - Autosomal dominant inheritance - Cerebellar hemangioblastoma - Epididymal cyst - Hypertension - Multiple renal cysts - Neoplasm of the pancreas - Papillary cystadenoma of the epididymis - Paraganglioma - Phenotypic variability - Pheochromocytoma - Polycythemia - Pulmonary capillary hemangiomatosis - Renal cell carcinoma - Retinal capillary hemangioma - Spinal hemangioblastoma - Tinnitus - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Von Hippel-Lindau disease +What causes Von Hippel-Lindau disease ?,"What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.",GARD,Von Hippel-Lindau disease +Is Von Hippel-Lindau disease inherited ?,"How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.",GARD,Von Hippel-Lindau disease +How to diagnose Von Hippel-Lindau disease ?,"How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.",GARD,Von Hippel-Lindau disease +What are the treatments for Von Hippel-Lindau disease ?,"How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.",GARD,Von Hippel-Lindau disease +What is (are) Pelizaeus-Merzbacher disease ?,"Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.",GARD,Pelizaeus-Merzbacher disease +What are the symptoms of Pelizaeus-Merzbacher disease ?,"What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills such as crawling or walking. As the child gets older, nystagmus may improve, but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), and involuntary jerking (choreiform movements). Cognitive abilities may be impaired, but speech and language are usually present. Severe or connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms are usually present at birth or develop in the first few weeks of life. Features include nystagmus, problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures. Children often have short stature and poor weight gain. Those affected with connatal Pelizaeus-Merzbacher disease don't walk or develop effective use of their upper limbs. Verbal expression is usually severely affected, but comprehension may be significant. The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 100% Psychomotor deterioration 100% Abnormal pyramidal signs 90% Ataxia 90% Behavioral abnormality 90% Cerebral cortical atrophy 90% Decreased body weight 90% Developmental regression 90% Dystonia 90% Gait disturbance 90% Hypertonia 90% Incoordination 90% Kyphosis 90% Limitation of joint mobility 90% Muscular hypotonia 90% Optic atrophy 90% Premature birth 90% Progressive spastic quadriplegia 90% Scoliosis 90% Slow progression 90% Visual impairment 90% Choreoathetosis 75% Dysarthria 75% Dysphagia 75% Reduction of oligodendroglia 75% Sudanophilic leukodystrophy 75% Abnormality of the urinary system 50% Abnormality of visual evoked potentials 50% Arteriovenous malformation 50% Bowel incontinence 50% Chorea 50% Cognitive impairment 50% Delayed speech and language development 50% Failure to thrive 50% Head titubation 50% Hearing impairment 50% Microcephaly 50% Neurological speech impairment 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Seizures 50% Short stature 50% Congenital laryngeal stridor 7.5% Peripheral neuropathy 7.5% Hyporeflexia 4/7 Cerebral dysmyelination - Infantile onset - Intellectual disability - Rotary nystagmus - Scanning speech - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pelizaeus-Merzbacher disease +What causes Pelizaeus-Merzbacher disease ?,"What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown.",GARD,Pelizaeus-Merzbacher disease +Is Pelizaeus-Merzbacher disease inherited ?,How is Pelizaeus-Merzbacher disease inherited?,GARD,Pelizaeus-Merzbacher disease +What are the treatments for Pelizaeus-Merzbacher disease ?,How might Pelizaeus-Merzbacher disease be treated?,GARD,Pelizaeus-Merzbacher disease +What are the symptoms of Microduplication Xp11.22-p11.23 syndrome ?,"What are the signs and symptoms of Microduplication Xp11.22-p11.23 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microduplication Xp11.22-p11.23 syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of the voice 50% EEG abnormality 50% Obesity 50% Pes cavus 50% Pes planus 50% Precocious puberty 50% Seizures 50% Toe syndactyly 50% Autism 7.5% Absence seizures - Hoarse voice - Intellectual disability, borderline - Nasal speech - Phenotypic variability - Poor speech - Shyness - Syndactyly - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microduplication Xp11.22-p11.23 syndrome +What are the symptoms of Brachydactyly type A2 ?,"What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 50% Abnormality of the metacarpal bones 7.5% Short distal phalanx of finger 7.5% 2-3 toe syndactyly - Aplasia/Hypoplasia of the middle phalanges of the toes - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal dominant inheritance - Bracket epiphysis of the middle phalanx of the 2nd finger - Bracket epiphysis of the middle phalanx of the 5th finger - Broad hallux - Hallux valgus - Medially deviated second toe - Radial deviation of the 2nd finger - Short 2nd finger - Short hallux - Short middle phalanx of the 5th finger - Short stature - Triangular shaped middle phalanx of the 2nd finger - Triangular shaped middle phalanx of the 5th finger - Ulnar deviation of the 2nd finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type A2 +"What are the symptoms of Dystonia 7, torsion ?","What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - Torsion dystonia - Torticollis - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dystonia 7, torsion" +What is (are) FG syndrome ?,"FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. ""FG"" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.",GARD,FG syndrome +What are the symptoms of FG syndrome ?,"What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Behavioral abnormality 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the palate 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% EEG abnormality 50% Epicanthus 50% Fine hair 50% Mask-like facies 50% Open mouth 50% Seizures 50% Strabismus 50% Abnormality of the intestine 7.5% Hernia of the abdominal wall 7.5% Hypertonia 7.5% Ptosis 7.5% Single transverse palmar crease 7.5% Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Abnormal heart morphology - Abnormality of the nasopharynx - Abnormality of the sternum - Anal atresia - Anal stenosis - Anteriorly placed anus - Attention deficit hyperactivity disorder - Broad hallux - Broad thumb - Camptodactyly - Choanal atresia - Cleft palate - Cleft upper lip - Clinodactyly - Constipation - Delayed closure of the anterior fontanelle - Delayed speech and language development - Dental crowding - Facial wrinkling - Frontal bossing - Frontal upsweep of hair - Heterotopia - High pitched voice - Hydrocephalus - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint contracture of the hand - Joint swelling onset late infancy - Large forehead - Long philtrum - Lumbar hyperlordosis - Microtia, first degree - Motor delay - Multiple joint contractures - Narrow palate - Neonatal hypotonia - Partial agenesis of the corpus callosum - Plagiocephaly - Postnatal macrocephaly - Prominent fingertip pads - Prominent nose - Pyloric stenosis - Radial deviation of finger - Sacral dimple - Short neck - Short stature - Skin tags - Sparse hair - Split hand - Syndactyly - Thick lower lip vermilion - Umbilical hernia - Underdeveloped superior crus of antihelix - Wide anterior fontanel - Wide mouth - Wide nasal bridge - X-linked inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,FG syndrome +What are the treatments for FG syndrome ?,"How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies.",GARD,FG syndrome +What is (are) Fetal retinoid syndrome ?,"Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.",GARD,Fetal retinoid syndrome +What is (are) Malignant eccrine spiradenoma ?,"Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin. It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound. The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the immune system (immunosuppression) may contribute to the development of this tumor. Because malignant eccrine spiradenoma is quite rare, there are no established treatment guidelines; however, in practice, surgery is often performed to remove the tumor and additional treatments may follow, depending on the severity and extent of the cancer.",GARD,Malignant eccrine spiradenoma +What are the treatments for Malignant eccrine spiradenoma ?,"How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for treating this cancer. Additional treatment may include radiation therapy to destroy any cancer cells that might remain after surgery. Though chemotherapy has been used in cases of malignant eccrine spiradenoma, it is thought to be of limited help in treating this disease.",GARD,Malignant eccrine spiradenoma +"What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?","HEM (hydrops fetalis, ectopic calcifications, ""moth-eaten"" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a ""moth-eaten"" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM.",GARD,"Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia" +"What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?","What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. The following are several of the other signs and symptoms that have been reported in some patients with HEM : Polydactyly (presence of more than 5 fingers on the hands or 5 toes on the feet) Reduced number of ribs Omphalocele Intestinal malformation Abnormal fingernails Less than normal number of lobes in the lung (hypolobated lungs) Cystic hygroma The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of erythrocytes 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Limb undergrowth 90% Lymphedema 90% Short stature 90% Decreased skull ossification 50% Malar flattening 50% Narrow chest 50% Skull defect 50% Toxemia of pregnancy 50% 11 pairs of ribs - Abnormal foot bone ossification - Abnormal joint morphology - Abnormal lung lobation - Abnormal ossification involving the femoral head and neck - Abnormal pelvis bone ossification - Abnormality of cholesterol metabolism - Abnormality of the calcaneus - Abnormality of the scapula - Abnormality of the vertebral spinous processes - Absent or minimally ossified vertebral bodies - Absent toenail - Anterior rib punctate calcifications - Autosomal recessive inheritance - Barrel-shaped chest - Bone marrow hypocellularity - Bowing of the long bones - Broad palm - Cardiomegaly - Cystic hygroma - Depressed nasal bridge - Diaphyseal thickening - Disproportionate short-limb short stature - Epiphyseal stippling - Extramedullary hematopoiesis - Flared metaphysis - Hepatic calcification - Hepatomegaly - Hepatosplenomegaly - High forehead - Horizontal sacrum - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic vertebral bodies - Intestinal malrotation - Laryngeal calcification - Lethal skeletal dysplasia - Long clavicles - Low-set ears - Macrocephaly - Mesomelia - Metaphyseal cupping - Micromelia - Misalignment of teeth - Multiple prenatal fractures - Neonatal death - Nonimmune hydrops fetalis - Omphalocele - Pancreatic islet-cell hyperplasia - Patchy variation in bone mineral density - Pleural effusion - Polyhydramnios - Postaxial foot polydactyly - Postaxial hand polydactyly - Pulmonary hypoplasia - Punctate vertebral calcifications - Rhizomelia - Sandal gap - Sclerosis of skull base - Severe hydrops fetalis - Short diaphyses - Short phalanx of finger - Short ribs - Sternal punctate calcifications - Stillbirth - Supernumerary vertebral ossification centers - Tracheal calcification - Ulnar deviation of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia" +"What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?","What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is said to be inherited in an autosomal recessive pattern. The presence of two mutated copies of the LBR gene may affect the structure of the nucleus of the cell as well.",GARD,"Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia" +"How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?","How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM.",GARD,"Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia" +What are the symptoms of Palmer Pagon syndrome ?,"What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the thorax 90% Abnormality of the urinary system 90% Communicating hydrocephalus 90% Epicanthus 90% Hernia of the abdominal wall 90% Anomalous pulmonary venous return 50% Patent ductus arteriosus 50% Tetralogy of Fallot 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Palmer Pagon syndrome +What are the symptoms of Spinocerebellar ataxia 31 ?,"What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Late onset 50% Gaze-evoked horizontal nystagmus 33% Sensorineural hearing impairment 7.5% Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Gait ataxia - Limb ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 31 +What are the symptoms of Punctate palmoplantar keratoderma type 2 ?,"What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Palmoplantar keratoderma 90% Neoplasm of the skin 7.5% Autosomal dominant inheritance - Palmar telangiectasia - Plantar telangiectasia - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Punctate palmoplantar keratoderma type 2 +What are the symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan ?,"What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Abnormality of the genital system 50% Decreased body weight 50% Microcephaly 50% Seizures 50% Short stature 50% Hyperkeratosis 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - EEG abnormality - Intellectual disability - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia epilepsy oligophrenia syndrome of Moynahan +What is (are) Treacher Collins syndrome ?,"Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.",GARD,Treacher Collins syndrome +What are the symptoms of Treacher Collins syndrome ?,"What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. The condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of affected people. People with Treacher Collins syndrome usually have normal intelligence. You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews. The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Dental malocclusion 90% Hypoplasia of the zygomatic bone 90% Malar flattening 90% Skeletal dysplasia 90% Small face 90% Abnormality of the pinna 77% Lower eyelid coloboma 69% Sparse lower eyelashes 53% Abnormality of the eyelashes 50% Atresia of the external auditory canal 50% Cleft eyelid 50% Conductive hearing impairment 50% Frontal bossing 50% Low anterior hairline 50% Reduced number of teeth 50% Strabismus 50% Visual impairment 50% Wide nasal bridge 50% Visual loss 37% Abnormality of the auditory canal 36% Cleft soft palate 32% Projection of scalp hair onto lateral cheek 26% Abnormality of cardiovascular system morphology 7.5% Abnormality of dental enamel 7.5% Abnormality of dental morphology 7.5% Abnormality of parotid gland 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the thyroid gland 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the thymus 7.5% Bilateral microphthalmos 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Facial cleft 7.5% Glossoptosis 7.5% Hypertelorism 7.5% Hypoplasia of penis 7.5% Hypoplasia of the pharynx 7.5% Iris coloboma 7.5% Lacrimal duct stenosis 7.5% Multiple enchondromatosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Ptosis 7.5% Respiratory insufficiency 7.5% Scrotal hypoplasia 7.5% Tracheoesophageal fistula 7.5% Trismus 7.5% Upper eyelid coloboma 7.5% Urogenital fistula 7.5% Wide mouth 7.5% Intellectual disability 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Treacher Collins syndrome +What causes Treacher Collins syndrome ?,"What causes Treacher Collins syndrome? Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones and other tissues of the face. They are involved in making proteins that help make ribosomal RNA (rRNA). rRNA is a chemical needed to make new proteins that are necessary for normal function and survival of cells. Mutations in these genes can reduce the production of rRNA, which may cause cells involved in the development of facial bones and tissues to die early. This premature cell death may lead to the signs and symptoms of TCS. It is still unclear why the effects of these mutations are generally limited to facial development.",GARD,Treacher Collins syndrome +What are the treatments for Treacher Collins syndrome ?,"How might Treacher Collins syndrome be treated? There is currently no cure for Treacher Collins syndrome (TCS). Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists. Newborns may need special positioning or tracheostomy to manage the airway. Hearing loss may be treated with bone conduction amplification, speech therapy, and/or educational intervention. In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull. The specific surgical procedures used and the age when surgery is performed depends on the severity of the abnormalities, overall health and personal preference. There are some possible treatments that are being investigated. Researchers are looking for ways to inhibit a protein called p53, which helps the body to kill off unwanted cells. In people with TCS, p53 is abnormally activated, leading to the loss of specific cells and ultimately causing features of TCS. It has been proposed that inhibiting the production of p53 (or blocking its activation) may help to treat affected people. However, more research is needed to determine if this type of treatment is effective and safe. Researchers are also studying the use of stems cells found in fat tissue to be used alongside surgery in people with TCS and other craniofacial disorders. Early studies have shown that surgical outcomes may be improved using these stem cells to help stimulate the regrowth of affected areas. However, this therapy is still experimental and controversial.",GARD,Treacher Collins syndrome +What are the symptoms of Chondrosarcoma ?,"What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chondrosarcoma +What are the symptoms of Metachromatic leukodystrophy due to saposin B deficiency ?,"What are the signs and symptoms of Metachromatic leukodystrophy due to saposin B deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy due to saposin B deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - CNS demyelination - Decreased nerve conduction velocity - Developmental regression - Dysarthria - Dysphagia - Gait ataxia - Hyperreflexia - Hyporeflexia - Loss of speech - Mental deterioration - Muscular hypotonia - Peripheral demyelination - Polyneuropathy - Seizures - Spastic tetraparesis - Urinary incontinence - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metachromatic leukodystrophy due to saposin B deficiency +What is (are) Femoral facial syndrome ?,"Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.",GARD,Femoral facial syndrome +What are the symptoms of Femoral facial syndrome ?,"What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Cleft palate 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Abnormality of the sacrum 50% Abnormality of the tibia 50% Limb undergrowth 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Maternal diabetes 50% Preaxial foot polydactyly 50% Short nose 50% Short stature 50% Talipes 50% Thin vermilion border 50% Upslanted palpebral fissure 50% Vertebral segmentation defect 50% Abnormal localization of kidney 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Long penis 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of the pinna - Abnormality of the renal collecting system - Absent vertebrae - Aplasia/hypoplasia of the femur - Dysplastic sacrum - Esotropia - Gastroesophageal reflux - Hemivertebrae - Humeroradial synostosis - Hypoplastic acetabulae - Hypoplastic labia majora - Inguinal hernia - Limited elbow movement - Limited shoulder movement - Low-set ears - Micropenis - Missing ribs - Polycystic kidney dysplasia - Preaxial hand polydactyly - Pulmonic stenosis - Renal agenesis - Rib fusion - Short fifth metatarsal - Short fourth metatarsal - Short humerus - Short third metatarsal - Smooth philtrum - Sporadic - Talipes equinovarus - Toe syndactyly - Truncus arteriosus - Underdeveloped nasal alae - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Femoral facial syndrome +Is Femoral facial syndrome inherited ?,"Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported in three cases, but no sibling recurrences have been reported. Maternal diabetes has been recognized as a major factor causing FFS in more than 20% of the reported cases. The circumstances of the reported cases in the literature support non-genetic causes of FFS, such as teratogenic exposure. It is theoretically possible that the cause could sometimes be a new gene mutation occurring in the affected individual, or autosomal dominant inheritance with reduced penetrance.",GARD,Femoral facial syndrome +What is (are) Metachondromatosis ?,"Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions typically spontaneously decrease in size or regress. Nerve paralysis or vascular complications may occur in some cases. The condition has been linked to mutations in the PTPN11 gene in several families and is inherited in an autosomal dominant manner. Treatment may include surgery to remove osteochondromas in severe cases.[8171]",GARD,Metachondromatosis +What are the symptoms of Metachondromatosis ?,"What are the signs and symptoms of Metachondromatosis? Metachondromatosis (MC) is characterized by the presence of both multiple enchondromas and osteochondromas. The features of the condition generally become apparent in the first decade of life. Enchondromas are benign (noncancerous) tumors that appear on the inside of the bone. Those that are associated MC typically involve the iliac crests (part of the pelvis) and metaphyses of long bones, particularly the proximal femur (portion of the thigh bone closer to the trunk). These tumors are usually painless, but when they appear in the hands or feet, or in multiple lesions (as is typical in MC), they can deform the bone. Osteochondromas are also benign tumors. These form on the surface of the bone near the growth plates (areas of developing cartilage tissue near the ends of long bones in children) and are made up of both bone and cartilage. Osteochondromas may grow as the affected child grows, and stop growing when the child reaches skeletal maturity. They have a tendency to regress or disappear after the first or second decade of life. Those that are associated with MC most frequently occur in the small bones of the hands and feet, predominantly in digits and toes. The characteristic location and orientation of these in individuals with MC (as well as lack of bone shortening and short stature) are what generally differentiate MC from hereditary multiple osteochondromas (HMO), a disorder with overlapping features. The osteochondromas of MC point toward the joint to which they are adjacent (whereas those of HMO point away). Osteochondromas often cause painless bumps, but pain or other discomfort may occur if the tumors put pressure on soft tissues, nerves, or blood vessels. The Human Phenotype Ontology provides the following list of signs and symptoms for Metachondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Chondrocalcinosis 90% Cranial nerve paralysis 90% Exostoses 90% Multiple enchondromatosis 90% Abnormal joint morphology - Autosomal dominant inheritance - Bowing of the long bones - Multiple digital exostoses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metachondromatosis +What is (are) Disseminated peritoneal leiomyomatosis ?,"Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.",GARD,Disseminated peritoneal leiomyomatosis +What are the symptoms of Disseminated peritoneal leiomyomatosis ?,"What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.",GARD,Disseminated peritoneal leiomyomatosis +What causes Disseminated peritoneal leiomyomatosis ?,"What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear. Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .",GARD,Disseminated peritoneal leiomyomatosis +How to diagnose Disseminated peritoneal leiomyomatosis ?,"How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).",GARD,Disseminated peritoneal leiomyomatosis +What are the treatments for Disseminated peritoneal leiomyomatosis ?,"How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.",GARD,Disseminated peritoneal leiomyomatosis +What is (are) Larsen syndrome ?,"Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Management may include surgeries (especially for hip dislocation), and physiotherapy.",GARD,Larsen syndrome +What are the symptoms of Larsen syndrome ?,"What are the signs and symptoms of Larsen syndrome? The signs and symptoms of Larsen syndrome vary from person to person, but may include the following: Joint dislocation (especially of the hips, knees, and elbows) Hypermobile joints Flat, rectangular face Depressed nasal bridge Prominent forehead Widely spaced eyes (hypertelorism) 'Spatula-like' thumbs Long fingers with broad ends and short nails Short arms Cleft palate Clubfoot Curved spine Short stature Breathing problems in infancy (due to soft cartilage in the airway) Cardiovascular (heart) anomalies The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of thumb phalanx 90% Anonychia 90% Arachnodactyly 90% Brachydactyly syndrome 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Joint hypermobility 90% Malar flattening 90% Abnormality of the wrist 50% Abnormality of epiphysis morphology 7.5% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Short stature 7.5% Vertebral segmentation defect 7.5% Accessory carpal bones - Aortic dilatation - Atria septal defect - Autosomal dominant inheritance - Beaking of vertebral bodies - Bipartite calcaneus - Bronchomalacia - Cervical kyphosis - Cleft upper lip - Corneal opacity - Dislocated wrist - Elbow dislocation - Flat face - Hip dislocation - Hypodontia - Hypoplastic cervical vertebrae - Intellectual disability - Intrauterine growth retardation - Joint laxity - Knee dislocation - Multiple carpal ossification centers - Pectus carinatum - Pectus excavatum - Prominent forehead - Shallow orbits - Short metacarpal - Short metatarsal - Short nail - Spatulate thumbs - Spina bifida occulta - Spinal cord compression - Spondylolysis - Talipes equinovalgus - Talipes equinovarus - Tracheal stenosis - Tracheomalacia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Larsen syndrome +Is Larsen syndrome inherited ?,"How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.",GARD,Larsen syndrome +What is (are) Progressive multifocal leukoencephalopathy ?,"Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).",GARD,Progressive multifocal leukoencephalopathy +What are the treatments for Progressive multifocal leukoencephalopathy ?,"How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.",GARD,Progressive multifocal leukoencephalopathy +What is (are) Noonan syndrome ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome +What are the symptoms of Noonan syndrome ?,"What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the nipple 90% Abnormality of the palate 90% Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cystic hygroma 90% Enlarged thorax 90% High forehead 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscle weakness 90% Neurological speech impairment 90% Pectus carinatum 90% Pectus excavatum 90% Proptosis 90% Ptosis 90% Short stature 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Triangular face 90% Webbed neck 90% Abnormal dermatoglyphics 50% Abnormality of coagulation 50% Abnormality of the spleen 50% Abnormality of thrombocytes 50% Arrhythmia 50% Coarse hair 50% Cryptorchidism 50% Delayed skeletal maturation 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Low posterior hairline 50% Muscular hypotonia 50% Scoliosis 50% Strabismus 50% Intellectual disability 25% Abnormal hair quantity 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Hypogonadism 7.5% Lymphedema 7.5% Melanocytic nevus 7.5% Nystagmus 7.5% Radioulnar synostosis 7.5% Sensorineural hearing impairment 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Clinodactyly - Coarctation of aorta - Cubitus valgus - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertrophic cardiomyopathy - Kyphoscoliosis - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Shield chest - Short neck - Superior pectus carinatum - Synovitis - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan syndrome +Is Noonan syndrome inherited ?,"How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.",GARD,Noonan syndrome +What are the treatments for Noonan syndrome ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome +"What is (are) Prolactinoma, familial ?","A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. Most prolactinomas occur by chance (sporadically); in a small number of cases, prolactinoma may be associated with an inherited condition such as Multiple Endocrine Neoplasia type 1 (MEN1) or other genetic factor.",GARD,"Prolactinoma, familial" +What is (are) Hypocomplementemic urticarial vasculitis syndrome ?,"Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.",GARD,Hypocomplementemic urticarial vasculitis syndrome +How to diagnose Hypocomplementemic urticarial vasculitis syndrome ?,"How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected). People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test. In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.",GARD,Hypocomplementemic urticarial vasculitis syndrome +What are the symptoms of Boomerang dysplasia ?,"What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral ossification 90% Abnormality of bone mineral density 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the tibia 90% Limb undergrowth 90% Narrow chest 90% Abnormality of the femur 50% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Finger syndactyly 50% Hydrops fetalis 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the ulna 7.5% Absent radius - Autosomal dominant inheritance - Fibular aplasia - Hypoplastic iliac body - Hypoplastic nasal septum - Neonatal death - Severe short stature - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Boomerang dysplasia +What is (are) Mixed connective tissue disease ?,"Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.",GARD,Mixed connective tissue disease +What are the symptoms of Mixed connective tissue disease ?,"What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common. Other signs and symptoms may include: Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema) Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia) Dysfunction of the esophagus (hypomotility) Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency Kidney disease Neurologic abnormalities (in about 10 percent of people with MCTD) such as organic brain syndrome; blood vessel narrowing causing ""vascular"" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies) Anemia and leukopenia (in 30 to 40 percent of cases) Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases The Human Phenotype Ontology provides the following list of signs and symptoms for Mixed connective tissue disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Acrocyanosis 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Myalgia 90% Nausea and vomiting 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Skin rash 90% Abnormality of temperature regulation 50% Abnormality of the pleura 50% Arthralgia 50% Behavioral abnormality 50% Joint swelling 50% Keratoconjunctivitis sicca 50% Myositis 50% Xerostomia 50% Abnormal tendon morphology 7.5% Abnormality of coagulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Gastrointestinal hemorrhage 7.5% Hemolytic anemia 7.5% Hepatomegaly 7.5% Leukopenia 7.5% Limitation of joint mobility 7.5% Mediastinal lymphadenopathy 7.5% Meningitis 7.5% Nephropathy 7.5% Osteolysis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mixed connective tissue disease +What causes Mixed connective tissue disease ?,"What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should ""fight off."" There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.",GARD,Mixed connective tissue disease +Is Mixed connective tissue disease inherited ?,"Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.",GARD,Mixed connective tissue disease +How to diagnose Mixed connective tissue disease ?,How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.,GARD,Mixed connective tissue disease +What are the treatments for Mixed connective tissue disease ?,"How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications. Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended. For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.",GARD,Mixed connective tissue disease +What is (are) Chromosome 5q deletion ?,"Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 5q deletion +What are the symptoms of Faciocardiorenal syndrome ?,"What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of the philtrum 90% Abnormality of the pinna 90% Cleft palate 90% Cognitive impairment 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Plagiocephaly 90% Reduced number of teeth 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the endocardium 50% Abnormality of the tricuspid valve 7.5% Narrow mouth 7.5% Autosomal recessive inheritance - Broad hallux - Cryptorchidism - Decreased muscle mass - Endocardial fibroelastosis - Horseshoe kidney - Hydroureter - Hypodontia - Hypoplastic philtrum - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Malar flattening - Microtia - Nevus - Scoliosis - Small nail - Toe syndactyly - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Faciocardiorenal syndrome +What is (are) Mal de debarquement ?,"Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness, and difficulty concentrating. The symptoms may be last anywhere from a month to years. Symptoms may or may not go away with time; however, they may reoccur following another motion experience or during periods of stress or illness. Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications. Customized vestibular therapy and exercise routines may also be effective.",GARD,Mal de debarquement +What are the treatments for Mal de debarquement ?,"How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokinetic stimulation has been effective in some cases. In recent years, a renewed interest in understanding the underlying cause of MdDS has led to new treatment options, including repetitive cranial stimulation. More studies into these treatment options are needed.",GARD,Mal de debarquement +What is (are) Loeys-Dietz syndrome ?,"Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.",GARD,Loeys-Dietz syndrome +What are the symptoms of Loeys-Dietz syndrome ?,"What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aneurysm 90% Aortic dissection 90% Arterial dissection 90% Dilatation of the ascending aorta 90% Patent ductus arteriosus 90% Pes planus 90% Uterine rupture 90% Arachnodactyly 50% Atypical scarring of skin 50% Blue sclerae 50% Camptodactyly of finger 50% Cleft palate 50% Disproportionate tall stature 50% Hypoplasia of the zygomatic bone 50% Scoliosis 50% Striae distensae 50% Abnormality of coagulation 7.5% Craniosynostosis 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Sudden cardiac death 7.5% Thin skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Loeys-Dietz syndrome +What is (are) Cockayne syndrome ?,"Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or ""moderate"" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or ""early-onset"" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.",GARD,Cockayne syndrome +What are the symptoms of Cockayne syndrome ?,"What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the nose 90% Carious teeth 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Deeply set eye 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Macrotia 90% Microcephaly 90% Peripheral neuropathy 90% Prematurely aged appearance 90% Retinopathy 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of the foot 50% Aplasia/Hypoplasia of the skin 50% Atypical scarring of skin 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Chorioretinal abnormality 50% Decreased nerve conduction velocity 50% Dental malocclusion 50% Disproportionate tall stature 50% EEG abnormality 50% Fine hair 50% Generalized hyperpigmentation 50% Hypertension 50% Kyphosis 50% Large hands 50% Limitation of joint mobility 50% Strabismus 50% Tremor 50% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Breast aplasia 7.5% Cataract 7.5% Cryptorchidism 7.5% Delayed eruption of teeth 7.5% Glomerulopathy 7.5% Hypertrophic cardiomyopathy 7.5% Nephrotic syndrome 7.5% Optic atrophy 7.5% Oral cleft 7.5% Platyspondyly 7.5% Seizures 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cockayne syndrome +What is (are) Trisomy 18 ?,"Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).",GARD,Trisomy 18 +What are the symptoms of Trisomy 18 ?,"What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Atria septal defect 90% Broad forehead 90% Camptodactyly of finger 90% Cognitive impairment 90% Cryptorchidism 90% Decreased body weight 90% Deviation of finger 90% Dolichocephaly 90% High forehead 90% Hypertelorism 90% Hypertonia 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow face 90% Narrow mouth 90% Omphalocele 90% Pointed helix 90% Prominent occiput 90% Short nose 90% Short stature 90% Triangular face 90% Underdeveloped supraorbital ridges 90% Ventricular septal defect 90% Abnormality of female internal genitalia 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the toenails 50% Abnormality of the upper urinary tract 50% Blepharophimosis 50% Choanal atresia 50% Cleft palate 50% Congenital diaphragmatic hernia 50% Delayed skeletal maturation 50% Epicanthus 50% Microcephaly 50% Non-midline cleft lip 50% Oligohydramnios 50% Single transverse palmar crease 50% Urogenital fistula 50% Webbed neck 50% Abnormality of retinal pigmentation 7.5% Abnormality of the ribs 7.5% Anencephaly 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Cataract 7.5% Cyclopia 7.5% Glaucoma 7.5% Holoprosencephaly 7.5% Iris coloboma 7.5% Microcornea 7.5% Postaxial hand polydactyly 7.5% Spina bifida 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trisomy 18 +What causes Trisomy 18 ?,"What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18.",GARD,Trisomy 18 +Is Trisomy 18 inherited ?,"Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the body. Mosaic trisomy 18 (when some body cells have trisomy 18 and some have a normal chromosome make-up), is also typically not inherited. Mosaic trisomy 18 is also due to an error in cell division, but the error occurs early in embryonic development. About 5% of affected people have a mosaic form of trisomy 18. Partial trisomy 18 (when only part of chromosome 18 is present in 3 copies) can be inherited. An unaffected parent can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra or missing genetic material. However, a person with a balanced translocation has an increased risk with each pregnancy to have a child with trisomy 18.",GARD,Trisomy 18 +What is (are) Idiopathic acute eosinophilic pneumonia ?,"Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.",GARD,Idiopathic acute eosinophilic pneumonia +What are the symptoms of Idiopathic acute eosinophilic pneumonia ?,"What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Chest pain 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of eosinophils 50% Abnormality of the pleura 50% Myalgia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic acute eosinophilic pneumonia +What is (are) Opsismodysplasia ?,"Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.",GARD,Opsismodysplasia +What are the symptoms of Opsismodysplasia ?,"What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Opsismodysplasia +What are the symptoms of Hoyeraal Hreidarsson syndrome ?,"What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormal hair quantity 50% Abnormality of coagulation 50% Abnormality of the nail 50% Abnormality of the oral cavity 50% Anemia 50% Cerebral cortical atrophy 50% Generalized hyperpigmentation 50% Hypertonia 50% Hypopigmentation of hair 50% Ventriculomegaly 50% Abnormality of leukocytes 7.5% Bone marrow hypocellularity 7.5% Cerebral calcification 7.5% Incoordination 7.5% Neoplasm 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hoyeraal Hreidarsson syndrome +What is (are) Cherubism ?,"Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.",GARD,Cherubism +What are the symptoms of Cherubism ?,"What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. The Human Phenotype Ontology provides the following list of signs and symptoms for Cherubism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the mandible 90% Neoplasm of the skeletal system 90% Abnormality of dental morphology 50% Reduced number of teeth 50% Abnormality of the voice 7.5% Apnea 7.5% Feeding difficulties in infancy 7.5% Optic atrophy 7.5% Proptosis 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Childhood onset - Constriction of peripheral visual field - Macular scarring - Marcus Gunn pupil - Oligodontia - Optic neuropathy - Reduced visual acuity - Round face - Striae distensae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cherubism +What causes Cherubism ?,"How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.",GARD,Cherubism +Is Cherubism inherited ?,"If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.",GARD,Cherubism +What is (are) Osteopathia striata cranial sclerosis ?,"Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,Osteopathia striata cranial sclerosis +What are the symptoms of Osteopathia striata cranial sclerosis ?,"What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Craniofacial hyperostosis 90% Rough bone trabeculation 90% Cleft palate 50% Conductive hearing impairment 50% Delayed eruption of teeth 50% Frontal bossing 50% Macrocephaly 50% Malar flattening 50% Scoliosis 50% Wide nasal bridge 50% Intellectual disability, mild 33% High palate 15% Abnormality of the aorta 7.5% Asymmetry of the thorax 7.5% Cataract 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Delayed speech and language development 7.5% Epicanthus 7.5% Facial palsy 7.5% Headache 7.5% Hyperlordosis 7.5% Low-set, posteriorly rotated ears 7.5% Neurological speech impairment 7.5% Short stature 7.5% Spina bifida occulta 7.5% Anal atresia 5% Anal stenosis 5% Multicystic kidney dysplasia 5% Omphalocele 5% Apnea - Arachnodactyly - Atria septal defect - Bifid uvula - Broad ribs - Camptodactyly - Cleft upper lip - Clinodactyly of the 5th finger - Craniofacial osteosclerosis - Delayed closure of the anterior fontanelle - Dental crowding - Dental malocclusion - Failure to thrive - Fibular aplasia - Fibular hypoplasia - Flexion contracture of toe - Gastroesophageal reflux - Hydrocephalus - Hypertelorism - Intestinal malrotation - Joint contracture of the hand - Large fontanelles - Laryngeal web - Microtia - Muscular hypotonia - Narrow forehead - Nasal speech - Natal tooth - Oligohydramnios - Osteopathia striata - Overfolded helix - Paranasal sinus hypoplasia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Pectus excavatum - Pierre-Robin sequence - Polyhydramnios - Sclerosis of skull base - Seizures - Straight clavicles - Talipes equinovarus - Thick lower lip vermilion - Thickened calvaria - Thoracolumbar kyphosis - Tracheomalacia - Ventricular septal defect - Webbed neck - Wide intermamillary distance - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopathia striata cranial sclerosis +What is (are) Neuronal ceroid lipofuscinosis 9 ?,"Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Neuronal ceroid lipofuscinosis 9 +What are the symptoms of Neuronal ceroid lipofuscinosis 9 ?,"What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Death in childhood - Decreased light- and dark-adapted electroretinogram amplitude - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Intellectual disability - Mutism - Optic atrophy - Progressive inability to walk - Progressive visual loss - Psychomotor deterioration - Rigidity - Rod-cone dystrophy - Scanning speech - Seizures - Vacuolated lymphocytes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuronal ceroid lipofuscinosis 9 +What is (are) Bilateral frontoparietal polymicrogyria ?,"Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Bilateral frontoparietal polymicrogyria +What are the symptoms of Bilateral frontoparietal polymicrogyria ?,"What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of movements) The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal polymicrogyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Broad-based gait - Cerebellar hypoplasia - Cerebral dysmyelination - Esotropia - Exotropia - Frontoparietal polymicrogyria - Hyperreflexia - Hypertonia - Hypoplasia of the brainstem - Intellectual disability - Nystagmus - Polymicrogyria, anterior to posterior gradient - Seizures - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bilateral frontoparietal polymicrogyria +What is (are) Mycetoma ?,"Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications.",GARD,Mycetoma +What are the symptoms of Uropathy distal obstructive polydactyly ?,"What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Uropathy distal obstructive polydactyly +What is (are) Paroxysmal nocturnal hemoglobinuria ?,"Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.",GARD,Paroxysmal nocturnal hemoglobinuria +What are the symptoms of Progeroid syndrome Petty type ?,"What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progeroid syndrome Petty type +What are the symptoms of Omphalocele cleft palate syndrome lethal ?,"What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Omphalocele 90% Abnormality of female internal genitalia 50% Cleft palate 50% Hydrocephalus 50% Autosomal recessive inheritance - Bicornuate uterus - Bifid uvula - Death in infancy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Omphalocele cleft palate syndrome lethal +What are the symptoms of Beukes familial hip dysplasia ?,"What are the signs and symptoms of Beukes familial hip dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Osteoarthritis 90% Kyphosis 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Beukes familial hip dysplasia +"What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ?","What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the testis 90% Gait disturbance 90% Mask-like facies 90% Muscular hypotonia 90% Polycystic ovaries 90% Skeletal muscle atrophy 90% Abnormality of the nipple 50% Cataract 50% Cubitus valgus 50% Joint hypermobility 50% Kyphosis 50% Ptosis 50% Strabismus 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism" +What causes Primary melanoma of the central nervous system ?,"What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.",GARD,Primary melanoma of the central nervous system +What are the symptoms of Bardet-Biedl syndrome 8 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 8 +What is (are) Oculofaciocardiodental syndrome ?,"Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.",GARD,Oculofaciocardiodental syndrome +What are the symptoms of Oculofaciocardiodental syndrome ?,"What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculofaciocardiodental syndrome +What are the symptoms of Acrocapitofemoral dysplasia ?,"What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the hip bone 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Micromelia 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the metacarpal bones 50% Anonychia 50% Genu varum 50% Hyperlordosis 50% Macrocephaly 7.5% Narrow chest 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short thorax 7.5% Autosomal recessive inheritance - Broad nail - Cone-shaped capital femoral epiphysis - Cone-shaped epiphysis of the 1st metacarpal - Coxa vara - Cupped ribs - Delayed ossification of carpal bones - Disproportionate short stature - Disproportionate short-limb short stature - Dysplasia of the femoral head - Enlargement of the distal femoral epiphysis - Fibular overgrowth - Flared iliac wings - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic iliac wing - Lumbar hyperlordosis - Ovoid vertebral bodies - Relative macrocephaly - Short distal phalanx of finger - Short femoral neck - Short femur - Short humerus - Short metacarpal - Short palm - Short proximal phalanx of finger - Short proximal phalanx of thumb - Short ribs - Short tibia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrocapitofemoral dysplasia +What are the symptoms of Vocal cord dysfunction familial ?,"What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Laryngomalacia 90% Respiratory insufficiency 50% Autosomal dominant inheritance - Dysphagia - Microcephaly - Stridor - Vocal cord paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Vocal cord dysfunction familial +What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ?,"What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7.5% Highly arched eyebrow 7.5% Long face 7.5% Low-set, posteriorly rotated ears 7.5% Sacral dimple 7.5% Short distal phalanx of finger 7.5% Synophrys 7.5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camptodactyly syndrome Guadalajara type 1 +What is (are) Fanconi anemia ?,"Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.",GARD,Fanconi anemia +What are the symptoms of Fanconi anemia ?,"What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome stability 90% Anemia 90% Aplasia/Hypoplasia of the radius 90% Bone marrow hypocellularity 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Leukopenia 90% Short stature 90% Thrombocytopenia 90% Blepharophimosis 50% Cognitive impairment 50% Microcephaly 50% Scoliosis 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the femur 7.5% Abnormality of the hip bone 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the liver 7.5% Abnormality of the preputium 7.5% Abnormality of the ulna 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the uvula 7.5% Arteriovenous malformation 7.5% Astigmatism 7.5% Atria septal defect 7.5% Cafe-au-lait spot 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Clubbing of toes 7.5% Cranial nerve paralysis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Dolichocephaly 7.5% Duodenal stenosis 7.5% Epicanthus 7.5% External ear malformation 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Frontal bossing 7.5% Functional abnormality of male internal genitalia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Hypertrophic cardiomyopathy 7.5% Intrauterine growth retardation 7.5% Meckel diverticulum 7.5% Myelodysplasia 7.5% Nystagmus 7.5% Oligohydramnios 7.5% Patent ductus arteriosus 7.5% Pes planus 7.5% Proptosis 7.5% Ptosis 7.5% Recurrent urinary tract infections 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Renal insufficiency 7.5% Sloping forehead 7.5% Spina bifida 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Tracheoesophageal fistula 7.5% Triphalangeal thumb 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Weight loss 7.5% Abnormality of cardiovascular system morphology - Abnormality of skin pigmentation - Absent radius - Absent thumb - Anemic pallor - Bruising susceptibility - Chromosomal breakage induced by crosslinking agents - Complete duplication of thumb phalanx - Deficient excision of UV-induced pyrimidine dimers in DNA - Duplicated collecting system - Ectopic kidney - Horseshoe kidney - Hypergonadotropic hypogonadism - Intellectual disability - Leukemia - Microphthalmia - Neutropenia - Pancytopenia - Prolonged G2 phase of cell cycle - Renal agenesis - Reticulocytopenia - Short thumb - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fanconi anemia +What are the symptoms of Syndactyly type 9 ?,"What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Adactyly 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Toe syndactyly 90% Clinodactyly of the 5th finger 50% Symphalangism affecting the phalanges of the hand 50% Synostosis of carpal bones 50% 3-4 finger syndactyly - Aplasia/Hypoplasia of the hallux - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal recessive inheritance - Proximal/middle symphalangism of 5th finger - Single transverse palmar crease - Symphalangism affecting the phalanges of the hallux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syndactyly type 9 +What are the symptoms of Sea-Blue histiocytosis ?,"What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Blepharitis 90% Edema 90% Hepatomegaly 90% Mediastinal lymphadenopathy 90% Splenomegaly 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Pulmonary infiltrates 50% Irregular hyperpigmentation 7.5% Retinopathy 7.5% Abnormality of the eye - Absent axillary hair - Autosomal recessive inheritance - Cirrhosis - Sea-blue histiocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sea-Blue histiocytosis +What is (are) Globozoospermia ?,"Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.",GARD,Globozoospermia +What are the symptoms of Globozoospermia ?,"What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Globozoospermia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Globozoospermia +What is (are) Felty's syndrome ?,"Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.",GARD,Felty's syndrome +What are the symptoms of Felty's syndrome ?,"What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Felty's syndrome +What causes Felty's syndrome ?,"What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)",GARD,Felty's syndrome +Is Felty's syndrome inherited ?,"Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).",GARD,Felty's syndrome +What is (are) Aspergillosis ?,"Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.",GARD,Aspergillosis +What are the treatments for Aspergillosis ?,"How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.",GARD,Aspergillosis +What is (are) Primary angiitis of the central nervous system ?,"Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.",GARD,Primary angiitis of the central nervous system +What are the treatments for Primary angiitis of the central nervous system ?,"How might primary angiitis of the central nervous system be treated? The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.",GARD,Primary angiitis of the central nervous system +What are the symptoms of Leber congenital amaurosis 4 ?,"What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Keratoconus 5% Attenuation of retinal blood vessels - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Macular atrophy - Nyctalopia - Optic disc pallor - Pendular nystagmus - Reduced visual acuity - Undetectable light- and dark-adapted electroretinogram - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 4 +What are the symptoms of Verloove Vanhorick Brubakk syndrome ?,"What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Verloove Vanhorick Brubakk syndrome +What is (are) Limited cutaneous systemic sclerosis ?,"Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual.",GARD,Limited cutaneous systemic sclerosis +What are the symptoms of Limited cutaneous systemic sclerosis ?,"What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limited cutaneous systemic sclerosis +What are the treatments for Limited cutaneous systemic sclerosis ?,"How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications. Heartburn may be relieved by antacid medications that reduce the production of stomach acid. Medications that open small blood vessels and increase circulation may help relieve Raynaud's symptoms and reduce increased pressure in the arteries between the heart and lungs. Drugs that suppress the immune system have shown promise in preventing interstitial lung disease (a condition in which excess collagen collects in the tissue between the lungs' air sacs) in some people with CREST syndrome. To prevent loss of mobility, stretching exercises for the finger joints are important. A physical therapist can also show affected individuals some facial exercises that may help keep the face and mouth flexible. If CREST syndrome is making it difficult to perform daily tasks, an occupational therapist can help individuals learn new ways of doing things. For example, special toothbrushes and flossing devices can make it easier to care for the teeth. Surgery may be necessary for some affected individuals. Large or painful calcium deposits sometimes need to be surgically removed, and amputation of fingertips may be necessary if skin ulcers progress to gangrene. Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety, so early assessment and treatment of these psychological issues is recommended. For pain management, studies have shown that oxycodone is effective and safe for pain due to severe skin ulcers, while topical lidocaine helps reduce pain of digital ulcers in individuals with systemic scleroderma. ` There are also some lifestyle changes and home remedies that may be helpful for some individuals with CREST syndrome. To reduce Raynaud's symptoms, individuals may consider wearing gloves or mittens outdoors when the weather is cool, and indoors when reaching into the freezer, for example. To maintain the body's core temperature, individuals may dress in layers and wear a hat or scarf, thermal socks, and well-fitting boots or shoes that don't cut off the circulation. Individuals who smoke should talk to their doctor about the best ways to quit. Nicotine constricts the blood vessels, making Raynaud's phenomenon worse. Individuals who have difficulty swallowing may consider choosing soft, moist foods and chewing food well. To minimize acid reflux individuals may eat small, frequent meals; avoid spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating. Sitting upright for a couple of hours after a meal may also help. To help keep skin soft, individuals may avoid harsh soaps and detergents, while choosing gentle skin cleansers and bath gels with added moisturizers. Individuals may also consider bathing less frequently and taking brief baths and showers, using warm rather than hot water. Moisture levels in the home may be improved by using a humidifier to ease skin and breathing symptoms. For additional information about how CREST syndrome may be treated, the following article from eMedicine may be helpful: http://emedicine.medscape.com/article/1064663-treatment#showall The information provided here is for general educational purposes only. Individuals interested in learning about specific treatment options for themselves or family members should speak with their healthcare provider.",GARD,Limited cutaneous systemic sclerosis +What is (are) Achondrogenesis type 1A ?,"Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.",GARD,Achondrogenesis type 1A +What are the symptoms of Achondrogenesis type 1A ?,"What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Achondrogenesis type 1A +What is (are) Spinocerebellar ataxia autosomal recessive 7 ?,"Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.",GARD,Spinocerebellar ataxia autosomal recessive 7 +What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ?,"What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Clumsiness - Diplopia - Dysarthria - Gait ataxia - Hypermetric saccades - Hyperreflexia - Juvenile onset - Limb ataxia - Nystagmus - Postural tremor - Saccadic smooth pursuit - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia autosomal recessive 7 +What are the symptoms of Upington disease ?,"What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Exostoses 90% Limitation of joint mobility 90% Multiple enchondromatosis 90% Arthralgia - Arthralgia of the hip - Autosomal dominant inheritance - Broad femoral neck - Flattened femoral head - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Upington disease +"What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ?","What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Methylmalonic acidemia with homocystinuria, type cblJ" +What are the symptoms of Syndactyly-polydactyly-earlobe syndrome ?,"What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syndactyly-polydactyly-earlobe syndrome +What is (are) Schistosomiasis ?,"Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide. It can be treated safely and effectively with praziquantel.",GARD,Schistosomiasis +What are the symptoms of Schistosomiasis ?,"What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schistosomiasis +How to diagnose Schistosomiasis ?,"How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the intensity of infection. For best results, three samples should be collected on different days. A blood sample can also be tested for evidence of infection. Blood tests are indicated for travelers or immigrants from endemic areas who have not been treated (or not treated appropriately) in the past. The most common tests detect antibodies to the adult worm. For accurate results, the blood sample tested should be collected at least 6 to 8 weeks after likely infection. Blood testing may not be appropriate for patients who have been repeatedly infected and treated in the past because antibodies can persist despite cure. In these patients, blood testing cannot distinguish between a past or current infection. A specific blood test has been developed for this population (which can detect an active infection based on the presence of schistosomal antigen), but this test is not commercially available in the United States and is currently being studied for its ability to detect mild infections.",GARD,Schistosomiasis +What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ?,"What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autosomal recessive inheritance - Infantile onset - Leukemia - Myelodysplasia - Neutropenia - Recurrent bacterial infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Severe congenital neutropenia autosomal recessive 3 +What is (are) Prune belly syndrome ?,"Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear ""prune-like""; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than undescended testicle repair in males. The cause of the condition is unknown.",GARD,Prune belly syndrome +What are the symptoms of Prune belly syndrome ?,"What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. Prune belly syndrome may also cause lung, heart, gastrointestinal, and other organ, bone, and muscle damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Prune belly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the lungs 90% Cryptorchidism 90% Decreased fertility 90% Neoplasm of the thymus 90% Vesicoureteral reflux 90% Abnormal immunoglobulin level 50% Abnormality of the ribs 50% Acrocyanosis 50% Chest pain 50% Constipation 50% Diaphragmatic paralysis 50% Mediastinal lymphadenopathy 50% Multicystic kidney dysplasia 50% Oligohydramnios 50% Periorbital edema 50% Recurrent respiratory infections 50% Recurrent urinary tract infections 50% Renal insufficiency 50% Respiratory insufficiency 50% Abnormality of coagulation 7.5% Abnormality of the hip bone 7.5% Abnormality of the pericardium 7.5% Atria septal defect 7.5% Autoimmunity 7.5% Cognitive impairment 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Increased intracranial pressure 7.5% Intestinal malrotation 7.5% Migraine 7.5% Neuroendocrine neoplasm 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Ptosis 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Talipes 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Urogenital sinus anomaly 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Volvulus 7.5% Abnormality of the skin - Anal atresia - Aplasia of the abdominal wall musculature - Autosomal recessive inheritance - Congenital hip dislocation - Congenital posterior urethral valve - Hydronephrosis - Hydroureter - Pectus carinatum - Prune belly - Talipes equinovarus - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Prune belly syndrome +What causes Prune belly syndrome ?,"What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it.",GARD,Prune belly syndrome +What are the treatments for Prune belly syndrome ?,"How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.",GARD,Prune belly syndrome +What are the symptoms of Leber congenital amaurosis 10 ?,"What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 2/4 Autosomal recessive inheritance - Hyposmia - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 10 +What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia Matrilin-3 related +What are the symptoms of Alopecia macular degeneration growth retardation ?,"What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia macular degeneration growth retardation +What is (are) Meningioma ?,"Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms.",GARD,Meningioma +What are the treatments for Meningioma ?,"How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Radiation may be used if the meningioma cannot be operated on or if the meningioma is only partially removed by surgery. Radiation may also be used in cases of malignant, atypical, or recurrent tumors. Other treatments that have been tried or are being explored include hydroxyurea, epidermal growth factor receptor inhibitors, platelet-derived growth factor receptor inhibitors, vascular endothelial growth factor inhibitors, immunotherapy to stimulate the immune system, and somatostatin analogs which prevent the release of growth hormones.",GARD,Meningioma +What is (are) Progressive hemifacial atrophy ?,"Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 years before stabilizing. In addition to the skin and soft tissues, the deterioration can involve the mouth and tongue, facial bones, eye socket, and eye. Other symptoms may include loss of facial hair, changes in skin color in affected areas, seizures, and episodes of severe facial pain. Treatment may involve reconstructive or microvascular surgery. Currently, the cause of the condition is unknown.",GARD,Progressive hemifacial atrophy +What are the symptoms of Progressive hemifacial atrophy ?,"What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irregular hyperpigmentation 90% Abnormality of the musculature 50% Aplasia/Hypoplasia of the skin 50% Asymmetric growth 50% Seizures 50% Deeply set eye 7.5% Heterochromia iridis 7.5% Ptosis 7.5% Alopecia areata - Ataxia - Blepharophimosis - Delayed eruption of teeth - Dental malocclusion - Hemifacial atrophy - Horner syndrome - Kyphosis - Microtia - Migraine - Onset - Poliosis - Short mandibular rami - Sporadic - Trigeminal neuralgia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive hemifacial atrophy +What are the treatments for Progressive hemifacial atrophy ?,How might progressive hemifacial atrophy be treated?,GARD,Progressive hemifacial atrophy +What are the symptoms of Hawkinsinuria ?,"What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hawkinsinuria +What are the symptoms of Spinocerebellar ataxia 14 ?,"What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 14 +What are the symptoms of Spastic paraplegia 17 ?,"What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Babinski sign - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hyperreflexia - Impaired vibration sensation in the lower limbs - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Slow progression - Spastic gait - Spastic paraplegia - Thenar muscle atrophy - Thenar muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 17 +What are the symptoms of PEHO syndrome ?,"What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement 90% Abnormality of movement 90% Abnormality of the palate 90% Cerebral cortical atrophy 90% Cognitive impairment 90% EEG abnormality 90% Epicanthus 90% External ear malformation 90% Full cheeks 90% Hyperreflexia 90% Macrotia 90% Malar flattening 90% Muscular hypotonia 90% Narrow forehead 90% Open mouth 90% Optic atrophy 90% Seizures 90% Short nose 90% Sleep disturbance 90% Tapered finger 90% Visual impairment 90% Anteverted nares 50% Aplasia/Hypoplasia of the cerebellum 50% Edema of the lower limbs 50% Gingival overgrowth 50% Hydrocephalus 50% Limitation of joint mobility 50% Microcephaly 50% Palpebral edema 50% Porencephaly 50% Recurrent respiratory infections 50% Ventriculomegaly 50% Abnormality of the hand - Autosomal recessive inheritance - Cerebellar atrophy - Developmental stagnation - Edema - Feeding difficulties in infancy - Hypsarrhythmia - Infantile encephalopathy - Intellectual disability, profound - Neuronal loss in central nervous system - Peripheral dysmyelination - Progressive microcephaly - Retrognathia - Severe muscular hypotonia - Tented upper lip vermilion - Undetectable visual evoked potentials - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,PEHO syndrome +What are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ?,"What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Depressed nasal bridge 90% Gait disturbance 90% Limitation of joint mobility 90% Skeletal muscle atrophy 90% Slender long bone 90% Abnormality of the hip bone 50% Blue sclerae 50% Sacrococcygeal pilonidal abnormality 50% Spina bifida occulta 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pelvic dysplasia arthrogryposis of lower limbs +What is (are) Oral leukoplakia ?,"Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time. The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended.",GARD,Oral leukoplakia +What is (are) Oral lichen planus ?,"Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen planus slightly increases the risk for oral cancer. Oral lichen planus may occur alone or in combination with other skin forms of lichen planus.",GARD,Oral lichen planus +What are the treatments for Oral lichen planus ?,"How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines, diuretics such as chlorothiazide, and many others.[2483] Consideration regarding role of drugs that were started in recent months prior to the on set of oral lichen planus, as well as any contact allergens identified by patch testing is recommended. Symptoms may improve with the following measures: Meticulous oral hygiene Stopping smoking Topical steroids as drops, pastes, gels or sprays (e.g., triamcinolone paste) Steroid injections (intralesional triamcinolone) Mouth rinse containing the calcineurin inhibitors: cyclosporin or tacrolimus In severe cases systemic corticosteroids may be used. Other possible therapeutic agents may include: Thalidomide Systemic retinoids (acitretin or isotretinoin) Griseofulvin Azathioprine Cyclophosphamide Dapsone Metronidazole Low molecular weight heparin",GARD,Oral lichen planus +What is (are) Ollier disease ?,"Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). Clinical manifestations often appear in the first decade of life. The cause is unknown. There is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.",GARD,Ollier disease +What are the symptoms of Ollier disease ?,"What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. Enchondromas frequently affect the long tubular bones, particularly the tibia, the femur, and/or the fibula; flat bones, especially the pelvis, can also be affected. The lesions may affect multiple bones and are usually asymetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. Indeed, bone shortening may be the only clinical sign of the disease. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in articular movement. Forearm deformities are frequently encountered. In childhood, the lesions are subjected to pathologic fractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Ollier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Cavernous hemangioma 90% Micromelia 90% Osteolysis 90% Visceral angiomatosis 90% Bone pain 50% Limitation of joint mobility 50% Abnormality of coagulation 7.5% Anemia 7.5% Lymphangioma 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Chondrosarcoma - Multiple enchondromatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ollier disease +What causes Ollier disease ?,"What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait.",GARD,Ollier disease +What are the treatments for Ollier disease ?,"How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.",GARD,Ollier disease +What are the symptoms of Bare lymphocyte syndrome ?,"What are the signs and symptoms of Bare lymphocyte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Bronchiolitis - Chronic otitis media - Chronic sinusitis - Ectopia lentis - Emphysema - Recurrent bronchitis - Skin ulcer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bare lymphocyte syndrome +What is (are) Fragile X syndrome ?,"Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.",GARD,Fragile X syndrome +What are the symptoms of Fragile X syndrome ?,"What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty. The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Joint hypermobility 90% Macroorchidism 90% Neurological speech impairment 90% Otitis media 90% Pes planus 90% Abnormality of the pinna 50% Attention deficit hyperactivity disorder 50% Frontal bossing 50% Intellectual disability, moderate 50% Long face 50% Macrocephaly 50% Mandibular prognathia 50% Muscular hypotonia 50% Narrow face 50% Sinusitis 50% Abnormality of the mitral valve 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Dilatation of the ascending aorta 7.5% Seizures 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Abnormal head movements - Coarse facial features - Congenital macroorchidism - Folate-dependent fragile site at Xq28 - Hyperactivity - Incomplete penetrance - Joint laxity - Large forehead - Macroorchidism, postpubertal - Macrotia - Mitral valve prolapse - Pectus excavatum - Periventricular gray matter heterotopia - Poor eye contact - Scoliosis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fragile X syndrome +What causes Fragile X syndrome ?,"What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. In most cases of FXS, this section of DNA is repeated more than 200 times, which ""turns off"" the FMR1 gene and disrupts the function of the nervous system. In a small portion of cases, other types of changes in the FMR1 gene cause FXS. These changes may involve a deletion of all or part of the gene, or a change in the building blocks (amino acids) used to make the gene's protein. People with 55 to 200 repeats of the CGG segment are said to have an FMR1 premutation. Most people with a premutation are intellectually normal. In some cases, people with a premutation have lower levels of the gene's protein and may have some mild symptoms of FXS. About 20% of women with a premutation have premature ovarian failure, and some people with a premutation have an increased risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS).",GARD,Fragile X syndrome +Is Fragile X syndrome inherited ?,"How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. In women who carry an FMR1 gene premutation (approximately 55 to 200 CGG repeats), the repeats can expand to more than 200 repeats in their cells that develop into eggs. This means that women with a premutation (or a full mutation) have an increased risk to have a child with FXS. The size of the risk corresponds to the number of CGG repeats they have. By contrast, men with premutations are not at risk for the repeats expanding to over 200 when passing the gene to offspring. However, men with a premutation will pass the premutation on to all of their daughters and none of their sons. This is because boys receive only a Y chromosome from their fathers.",GARD,Fragile X syndrome +How to diagnose Fragile X syndrome ?,"Is genetic testing available for fragile X syndrome? Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a family member. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for fragile X syndrome. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional.",GARD,Fragile X syndrome +What are the treatments for Fragile X syndrome ?,"How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed medications for behavioral issues that affect social interaction routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure.",GARD,Fragile X syndrome +What are the symptoms of Otodental dysplasia ?,"What are the signs and symptoms of Otodental dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Otodental dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 50% Delayed eruption of teeth 50% Dental malocclusion 50% Full cheeks 50% Gingival overgrowth 50% Long face 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Taurodontia 50% Abnormality of the palate 7.5% Abnormality of the pinna 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Heterochromia iridis 7.5% Increased number of teeth 7.5% Iris coloboma 7.5% Lens coloboma 7.5% Long philtrum 7.5% Melanocytic nevus 7.5% Microcornea 7.5% Coloboma 5% Autosomal dominant inheritance - Hypodontia - Pulp stones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Otodental dysplasia +"What is (are) Crigler Najjar syndrome, type 1 ?","Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.",GARD,"Crigler Najjar syndrome, type 1" +"What are the symptoms of Crigler Najjar syndrome, type 1 ?","What are the signs and symptoms of Crigler Najjar syndrome, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Hearing impairment 7.5% Memory impairment 7.5% Ophthalmoparesis 7.5% Seizures 7.5% Autosomal recessive inheritance - Encephalopathy - Jaundice - Kernicterus - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Crigler Najjar syndrome, type 1" +What are the symptoms of X-linked Charcot-Marie-Tooth disease type 3 ?,"What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Areflexia - Decreased nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Pes cavus - Steppage gait - Upper limb muscle weakness - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked Charcot-Marie-Tooth disease type 3 +What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ?,"2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability.",GARD,2-methylbutyryl-CoA dehydrogenase deficiency +What are the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency ?,"What are the signs and symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methylbutyryl-CoA dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apneic episodes in infancy - Autosomal recessive inheritance - Exotropia - Generalized amyotrophy - Hypoglycemia - Hypothermia - Infantile onset - Lethargy - Microcephaly - Motor delay - Muscular hypotonia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,2-methylbutyryl-CoA dehydrogenase deficiency +What are the symptoms of Exstrophy of the bladder ?,"What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Exstrophy of the bladder +What is (are) Long QT syndrome ?,"Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions.",GARD,Long QT syndrome +What are the symptoms of Long QT syndrome ?,"What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the National Heart Lung and Blood Institute's Web site by clicking here. The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Sensorineural hearing impairment 90% Abdominal situs inversus 7.5% Anemia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Long QT syndrome +What causes Long QT syndrome ?,"What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome.",GARD,Long QT syndrome +How to diagnose Long QT syndrome ?,"How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosis of long QT syndrome has been made or is suspected on clinical grounds.",GARD,Long QT syndrome +What is (are) Central serous chorioretinopathy ?,"Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight lines and seeing objects as smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.",GARD,Central serous chorioretinopathy +What is (are) Fanconi renotubular syndrome ?,"Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.",GARD,Fanconi renotubular syndrome +What are the symptoms of Fanconi renotubular syndrome ?,"What are the signs and symptoms of Fanconi renotubular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi renotubular syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Glycosuria - Hypokalemia - Hypophosphatemia - Lacticaciduria - Muscle weakness - Osteomalacia - Proteinuria - Renal insufficiency - Renal tubular dysfunction - Rickets - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fanconi renotubular syndrome +What are the symptoms of 19p13.12 microdeletion syndrome ?,"What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,19p13.12 microdeletion syndrome +What is (are) Pretibial epidermolysis bullosa ?,"Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the ""pretibial region""). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring. Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Pretibial epidermolysis bullosa +What are the symptoms of Pretibial epidermolysis bullosa ?,"What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Atypical scarring of skin 50% Pruritus 50% Hyperkeratosis 7.5% Lichenification 7.5% Autosomal dominant inheritance - Pretibial blistering - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pretibial epidermolysis bullosa +What are the symptoms of Dihydropyrimidinase deficiency ?,"What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dihydropyrimidinase deficiency +What are the symptoms of Radio-ulnar synostosis type 1 ?,"What are the signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Radio-ulnar synostosis type 1 +What is (are) Hemifacial microsomia ?,"Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.",GARD,Hemifacial microsomia +What are the symptoms of Hemifacial microsomia ?,"What are the signs and symptoms of Hemifacial microsomia? People with hemifacial microsomia may have various signs and symptoms, including: Facial asymmetry Abnormalities of the outer ear such as absence, reduced size (hypoplasia), and/or displacement Small and/or flattened maxillary, temporal, and malar bones Deafness due to middle ear abnormalities Ear tags Abnormalities (in shape or number) of the teeth, or significant delay of tooth development Narrowed mandible (jaw) or absence of half of the mandible Cleft lip and/or palate Reduced size of facial muscles Abnormalities of the eyes (extremely small or absent) Skeletal abnormalities including problems of the spine or ribs Absence of cheeck muscles or nerves supplying those muscles (resulting in an uneven smile) The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial microsomia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial asymmetry 90% Hearing impairment 90% Preauricular skin tag 90% Abnormal form of the vertebral bodies 50% Abnormality of the inner ear 50% Abnormality of the middle ear 50% Atresia of the external auditory canal 50% Cleft palate 50% Epibulbar dermoid 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Non-midline cleft lip 50% Abnormal localization of kidney 7.5% Abnormality of the pharynx 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the lungs 7.5% Aplasia/Hypoplasia of the thumb 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cleft eyelid 7.5% Cognitive impairment 7.5% Laryngomalacia 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short stature 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Tracheomalacia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Anophthalmia - Anotia - Arnold-Chiari malformation - Autosomal dominant inheritance - Blepharophimosis - Block vertebrae - Branchial anomaly - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Ectopic kidney - Hemivertebrae - Hydrocephalus - Hypoplasia of facial musculature - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microphthalmia - Microtia - Multicystic kidney dysplasia - Occipital encephalocele - Patent ductus arteriosus - Pulmonary hypoplasia - Renal agenesis - Sensorineural hearing impairment - Strabismus - Unilateral external ear deformity - Upper eyelid coloboma - Ureteropelvic junction obstruction - Vertebral hypoplasia - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemifacial microsomia +What causes Hemifacial microsomia ?,"What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia.",GARD,Hemifacial microsomia +Is Hemifacial microsomia inherited ?,"Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In a very small number of cases, hemifacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The gene or genes involved in hemifacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.",GARD,Hemifacial microsomia +What are the treatments for Hemifacial microsomia ?,"How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. However in most cases, airway problems can be managed without surgery. Those with a jaw deformity and/or clefts may have feeding problems and may need supplemental feedings through a nasogastric tube to support growth and weight gain. Babies born with cleft lip or palate can have surgical repairs done during the first year. Cleft lip repair is typically performed when the child is 3-6 months old, while cleft palate surgery is generally performed when the child is about a year old. A lateral facial cleft, one of the most severe abnormalities associated with the condition, also requires reconstruction in stages. If eye closure is incomplete due to eyelid abnormalities or facial paralysis is present, a child may need eye protection or surgery. Surgery may also be used for eyelid differences to reposition the lower lids and corners of the eyes. Some children with abnormally shaped or missing ears may choose to have a series of reconstructive surgeries to make the ear appear more normal. Children with skin, cheek and other soft tissue deficiencies may need augmentation procedures such as fat grafting or tissue transfer. Severe bone abnormalities may require surgery as well. Because multiple body systems may be involved in hemifacial microsomia, affected people should continually be monitored for complications.",GARD,Hemifacial microsomia +What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior rib cupping - Brachydactyly syndrome - Broad foot - Broad nasal tip - Broad palm - Coarse facial features - Cone-shaped capital femoral epiphysis - Coxa vara - Delayed CNS myelination - Delayed skeletal maturation - Depressed nasal bridge - Flared iliac wings - Flexion contracture - High palate - Hypertelorism - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Intellectual disability, progressive - Low anterior hairline - Low-set ears - Malar flattening - Metaphyseal cupping of metacarpals - Metaphyseal widening - Optic disc pallor - Peg-like central prominence of distal tibial metaphyses - Platyspondyly - Prominent sternum - Seizures - Short femoral neck - Short finger - Short neck - Short stature - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thick eyebrow - Thin ribs - Thoracic kyphosis - Widened subarachnoid space - Wormian bones - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia x-linked with mental deterioration +"What are the symptoms of Nystagmus, congenital motor, autosomal recessive ?","What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital nystagmus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nystagmus, congenital motor, autosomal recessive" +What is (are) N-acetylglutamate synthetase deficiency ?,"N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion.",GARD,N-acetylglutamate synthetase deficiency +What are the symptoms of N-acetylglutamate synthetase deficiency ?,"What are the signs and symptoms of N-acetylglutamate synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for N-acetylglutamate synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Autosomal recessive inheritance - Cognitive impairment - Coma - Confusion - Failure to thrive - Hyperammonemia - Lethargy - Respiratory distress - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,N-acetylglutamate synthetase deficiency +What are the symptoms of Hemifacial hyperplasia strabismus ?,"What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial asymmetry 90% Cleft palate 50% Dental malocclusion 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Visual impairment 50% Amblyopia - Autosomal dominant inheritance - Hemifacial hypertrophy - Submucous cleft hard palate - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemifacial hyperplasia strabismus +What are the symptoms of Hypochromic microcytic anemia with iron overload ?,"What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the liver - Anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypochromic microcytic anemia with iron overload +What is (are) Cockayne syndrome type III ?,"Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or ""moderate"" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or ""early-onset"" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.",GARD,Cockayne syndrome type III +What are the symptoms of Cockayne syndrome type III ?,"What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cockayne syndrome type III +What is (are) Nail-patella syndrome ?,"Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Nail-patella syndrome +What are the symptoms of Nail-patella syndrome ?,"What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fingernails 90% Anonychia 90% Cubitus valgus 90% Exostoses 90% Hypoplastic toenails 90% Joint hypermobility 90% Limitation of joint mobility 90% Patellar aplasia 90% Skeletal dysplasia 90% Sprengel anomaly 90% Joint dislocation 50% Joint swelling 50% Nephrotic syndrome 50% Osteoarthritis 50% Proteinuria 50% Cataract 7.5% Glaucoma 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hematuria 7.5% Hypertension 7.5% Nephropathy 7.5% Renal insufficiency 7.5% Vasculitis 7.5% Absence of pectoralis minor muscle - Absent distal interphalangeal creases - Antecubital pterygium - Autosomal dominant inheritance - Biceps aplasia - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Concave nail - Disproportionate prominence of the femoral medial condyle - Elongated radius - Glenoid fossa hypoplasia - Glomerulonephritis - Hypoplasia of first ribs - Hypoplastic radial head - Iliac horns - Keratoconus - Lester's sign - Limited elbow extension - Lumbar hyperlordosis - Microcornea - Microphakia - Patellar dislocation - Pectus excavatum - Pes planus - Ptosis - Quadriceps aplasia - Ridged nail - Scoliosis - Sensorineural hearing impairment - Short stature - Spina bifida - Talipes equinovarus - Thickening of the lateral border of the scapula - Triceps aplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nail-patella syndrome +What is (are) 21-hydroxylase deficiency ?,"21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.",GARD,21-hydroxylase deficiency +What are the symptoms of 21-hydroxylase deficiency ?,"What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype Ontology provides the following list of signs and symptoms for 21-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. What are the symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia? The classical salt wasting form of 21-hydroxylase-deficient is a severe form of 21-hydroxylase deficiency. People with this condition have no 21-hydroxylase function.Within the first week of life newborns may have life threatening salt-wasting crises and low blood pressure. Females are often born with ambiguous genitalia. A close look at the hormone levels in patients with this form of 21-hydroxylase deficiency reveals an increased level of testosterone and rennin, and reduced levels of cortisol and aldosterone. Levels of 17-hydroxyprogesterone is over 5,000 nmol/L. What are the symptoms of simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia? Patients with simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia have some functioning 21-hydroxylase (about 1%). Females may be born with clitoral enlargement, labial fusion, and sexual ambiguity. Males may present in early childhood with signs of precocious puberty such as very early sexual development, pubic hair development, and/or growth acceleration. Untreated patients have a shorter than average adult height. A close look at hormone levels in patients with simple virilizing 21-hydroxylase deficiency reveal an increased level of testosterone, reduced level of cortisol, normal or increased level of renin, and normal levels of aldosterone. Levels of 17-Hydroxyprogesterone are 2500 to 5000 nmol/L. What are the symptoms of nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? People with nonclassical or late-onset 21-hydroxylase-deficient congenital adrenal hyperplasia have 20% to 50% of 21-Hydroxylase activity. They may present in childhood or adulthood with early pubic hair growth or with symptoms of polycystic ovary syndrome. In females symptoms may include excessive hair growth, absent periods, infertility, androgenic alopecia, masculinized genitalia, and acne. Height is likely to be normal. A close look at the hormone levels in patients with the nonclassical type reveal a variably increased level of testosterone and normal levels of aldosterone, renin, and cortisol. Levels of 17-Hydroxyprogesterone are 500 to 2500 nmol/L.",GARD,21-hydroxylase deficiency +What causes 21-hydroxylase deficiency ?,"What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2).",GARD,21-hydroxylase deficiency +Is 21-hydroxylase deficiency inherited ?,"How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent chance with each pregnancy of having a child affected by the disorder. The chance with each pregnancy of having an unaffected child who is a carrier of the disorder is 50 percent, and the chance that a child will not have the disorder and will not be a carrier is 25 percent. See the illustration below.",GARD,21-hydroxylase deficiency +How to diagnose 21-hydroxylase deficiency ?,"Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of laboratories offering CYP21A2 testing.",GARD,21-hydroxylase deficiency +What are the treatments for 21-hydroxylase deficiency ?,"What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia. In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities. Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.",GARD,21-hydroxylase deficiency +What is (are) Urachal cancer ?,"Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachal cancers are classified as such based on location at the dome or anterior wall of the bladder and discovery of remnants of the urachus. Most urachal cancers are adenocarcinomas (cancers that develop from gland cells). Others may be sarcomas (which develop from connective tissue - such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer present with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Patients who present with early disease confined to the urachus have a good prognosis when treated with partial cystectomy, umbilicotomy, and urachal resection. The prognosis for those with advanced disease is less promising.",GARD,Urachal cancer +What are the treatments for Urachal cancer ?,"How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy and radiation therapy for the treatment of urachal cancer is unclear, although some studies show that chemotherapy can induce objective response in some cases. Chemotherapy regimens that may be used include: single-agent 5-fluorouracil (5-FU), 5-FU and cisplatin, 5-FU, lomustine and vincristine, taxol and cisplatin, platinum and etoposide, and MVAC (methotrexate, vinblastine, doxorubicin, cisplatin) alone or in conjunction with radiation therapy.",GARD,Urachal cancer +What is (are) 22q11.2 duplication syndrome ?,"22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70% genes of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. Duplication is not detectable by karyotype and most of the people with 22q11.2 duplication syndrome are identified by a special technique known as chromosomal microarray. Treatment depends on the symptoms and includes an individualized educational program. Read more out chromosome 22.",GARD,22q11.2 duplication syndrome +What are the symptoms of 22q11.2 duplication syndrome ?,"What are the signs and symptoms of 22q11.2 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormal nasal morphology 50% Abnormality of the pharynx 50% Abnormality of the voice 50% Cleft palate 50% Cognitive impairment 50% Epicanthus 50% High forehead 50% Hypertelorism 50% Malar flattening 50% Muscular hypotonia 50% Narrow face 50% Neurological speech impairment 50% Abnormality of immune system physiology 7.5% Abnormality of the aorta 7.5% Abnormality of the philtrum 7.5% Abnormality of the upper urinary tract 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the thymus 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hypoplastic left heart 7.5% Microcephaly 7.5% Obsessive-compulsive behavior 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Stereotypic behavior 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the pinna - Autosomal dominant inheritance - Delayed speech and language development - Depressed nasal ridge - Growth delay - High palate - Intellectual disability - Low-set ears - Nasal speech - Specific learning disability - Sporadic - Velopharyngeal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,22q11.2 duplication syndrome +What are the symptoms of Treacher Collins syndrome 3 ?,"What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the outer ear - Autosomal recessive inheritance - Cleft palate - Lower eyelid coloboma - Malar flattening - Mandibulofacial dysostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Treacher Collins syndrome 3 +What is (are) Carbon baby syndrome ?,"Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.",GARD,Carbon baby syndrome +What are the symptoms of Corpus callosum agenesis double urinary collecting ?,"What are the signs and symptoms of Corpus callosum agenesis double urinary collecting? The Human Phenotype Ontology provides the following list of signs and symptoms for Corpus callosum agenesis double urinary collecting. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastrointestinal tract 90% Abnormality of the palate 90% Abnormality of the ureter 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cubitus valgus 90% Deep philtrum 90% Deviation of finger 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Sacral dimple 90% Trigonocephaly 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corpus callosum agenesis double urinary collecting +What is (are) Microgastria limb reduction defect ?,"Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and gastrointestinal system are also symptoms of this condition. This condition is caused by an error that occurs during the development of the embryo. Treatment may involve reconstructive surgery (Hunt-Lawrence pouch) to help improve the child's feeding abilities.",GARD,Microgastria limb reduction defect +What are the symptoms of Microgastria limb reduction defect ?,"What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the spleen 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Microgastria 90% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Abnormality of the ulna 50% Congenital muscular torticollis 50% Frontal bossing 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Abnormal localization of kidney 7.5% Abnormal lung lobation 7.5% Abnormality of neuronal migration 7.5% Abnormality of the clavicle 7.5% Absent hand 7.5% Amelia 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Elbow dislocation 7.5% Hepatomegaly 7.5% Holoprosencephaly 7.5% Intestinal malrotation 7.5% Phocomelia 7.5% Renal hypoplasia/aplasia 7.5% Split hand 7.5% Tracheoesophageal fistula 7.5% Truncus arteriosus 7.5% Urogenital fistula 7.5% Absent gallbladder - Absent thumb - Aganglionic megacolon - Agenesis of corpus callosum - Anophthalmia - Arrhinencephaly - Asplenia - Bicornuate uterus - Biliary tract abnormality - Cryptorchidism - Cystic renal dysplasia - Failure to thrive - Fusion of the left and right thalami - Gastroesophageal reflux - Horseshoe kidney - Hypoplasia of the radius - Hypoplasia of the ulna - Oligodactyly (hands) - Pelvic kidney - Polymicrogyria - Secundum atrial septal defect - Sporadic - Type I truncus arteriosus - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microgastria limb reduction defect +"What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22 ?","What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 22. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, autosomal dominant nonsyndromic sensorineural 22" +What is (are) Arginase deficiency ?,"Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). Although most affected people appear healthy at birth, features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include growth deficiency, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner. Management is generally focused on lowering arginine levels and preventing hyperammonemia. This may be accomplished through restriction of dietary protein and use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions.",GARD,Arginase deficiency +What are the symptoms of Arginase deficiency ?,"What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Behavioral abnormality 90% Cognitive impairment 90% Neurological speech impairment 90% EEG abnormality 50% Hemiplegia/hemiparesis 50% Hyperammonemia 50% Seizures 50% Anorexia - Autosomal recessive inheritance - Diaminoaciduria - Hyperactivity - Intellectual disability - Irritability - Oroticaciduria - Postnatal growth retardation - Progressive spastic quadriplegia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Arginase deficiency +What are the treatments for Arginase deficiency ?,"How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources.",GARD,Arginase deficiency +What are the symptoms of His bundle tachycardia ?,"What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Hypertrophic cardiomyopathy 50% Neoplasm of the heart 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,His bundle tachycardia +What are the symptoms of Al Gazali Sabrinathan Nair syndrome ?,"What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Optic atrophy 90% Recurrent fractures 90% Seizures 90% Wormian bones 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Al Gazali Sabrinathan Nair syndrome +What are the symptoms of Schneckenbecken dysplasia ?,"What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schneckenbecken dysplasia +What are the symptoms of Acrocephalopolydactylous dysplasia ?,"What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Omphalocele 30% Pancreatic fibrosis 30% Abnormality of the pinna - Ascites - Autosomal recessive inheritance - Craniosynostosis - Cystic renal dysplasia - Enlarged kidneys - Epicanthus - Extrapulmonary sequestrum - Hepatic fibrosis - Hepatomegaly - Hypertelorism - Hypoplasia of the small intestine - Hypoplastic colon - Low-set ears - Micromelia - Oxycephaly - Phenotypic variability - Polysplenia - Postaxial hand polydactyly - Pulmonary hypoplasia - Short neck - Short nose - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrocephalopolydactylous dysplasia +What is (are) Hydrops fetalis ?,"Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has.",GARD,Hydrops fetalis +What are the symptoms of Hydrops fetalis ?,"What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Anemia 90% Congestive heart failure 90% Hydrops fetalis 90% Pallor 90% Hepatomegaly 50% Hydrocephalus 50% Oligohydramnios 50% Polyhydramnios 50% Splenomegaly 50% Toxemia of pregnancy 50% Abnormality of the pericardium 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hydrops fetalis +What is (are) Cushing disease ?,"Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. Patients also have an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). Cushing disease occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. The genetic cause of Cushing disease is often unknown but some cases are caused by somatic mutations in genes involved in hormonal activity. Most cases occur sporadically in people with no family history of the condition. Rarely, Cushing disease can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma). Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels.",GARD,Cushing disease +What are the symptoms of Cushing disease ?,"What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cushing disease +What are the symptoms of Jensen syndrome ?,"What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Jensen syndrome +What are the symptoms of Nestor-guillermo progeria syndrome ?,"What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nestor-guillermo progeria syndrome +What is (are) Familial Mediterranean fever ?,"Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene. Treatment for FMF often involves use of a medication called colchicine.",GARD,Familial Mediterranean fever +What are the symptoms of Familial Mediterranean fever ?,"What are the signs and symptoms of Familial Mediterranean fever? Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash. The muscle pain is often confused with fibromyalgia and the joint pain is sometimes confused with gout. The pain symptoms are usually the result of inflammation in the lining of the abdomen, lungs, joints, heart, pelvis, and/or in the membrane that surrounds the brain and spinal cord. Headaches and amyloidosis may also occur. The majority of people with FMF experience their first episode by age 20. The frequency of such attacks is highly variable and the interval between attacks ranges from days to years. The frequency and symptoms experienced during an attack may also change over time. People tend to be symptom-free between attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial Mediterranean fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Constipation 90% Myalgia 90% Nausea and vomiting 90% Abnormality of the oral cavity 50% Abnormality of the pleura 50% Chest pain 50% Diarrhea 50% Erysipelas 50% Proteinuria 50% Seizures 50% Abnormality of the pericardium 7.5% Acute hepatic failure 7.5% Arrhythmia 7.5% Ascites 7.5% Coronary artery disease 7.5% Edema of the lower limbs 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Meningitis 7.5% Nephrocalcinosis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Orchitis 7.5% Osteoarthritis 7.5% Pancreatitis 7.5% Skin rash 7.5% Splenomegaly 7.5% Vasculitis 7.5% Arthritis - Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatomegaly - Leukocytosis - Pericarditis - Peritonitis - Pleuritis - Renal amyloidosis - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial Mediterranean fever +Is Familial Mediterranean fever inherited ?,"How is familial Mediterranean fever (FMF) inherited? FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage are carriers for FMF. In rare cases, this condition appears to be inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FMF inherited in an autosomal dominant manner has a 50% chance with each pregnancy of passing along the altered gene to his or her child. In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance. This may happen in families if one parent is an unaffected, unknown carrier (with 1 mutation) and the other parent is affected (with 2 mutations). It may appear that an affected child inherited FMF from only the affected parent, when in fact he/she inherited one mutation from each parent.",GARD,Familial Mediterranean fever +How to diagnose Familial Mediterranean fever ?,"How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful: Elevated white blood cell count, which is an indication of an immune response. Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response. Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism. Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation. Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks. Is genetic testing for familial Mediterranean fever (FMF) available? Yes. The Genetic Testing Registry (GTR) provides information about the genetic testing for this condition. We strongly recommend that you work with a genetics professional if you wish to pursue genetic testing.",GARD,Familial Mediterranean fever +What are the treatments for Familial Mediterranean fever ?,"How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days. Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction. Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation.",GARD,Familial Mediterranean fever +What are the symptoms of Joubert syndrome 2 ?,"What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology - Abnormality of saccadic eye movements - Abnormality of the corpus callosum - Abnormality of the foot - Agenesis of cerebellar vermis - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Chorioretinal coloboma - Depressed nasal bridge - Dolichocephaly - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Encephalocele - Enlarged fossa interpeduncularis - Episodic tachypnea - Esotropia - Failure to thrive - Frontal bossing - Heterogeneous - High palate - Hydrocephalus - Hypertelorism - Hypoplasia of the brainstem - Hypoplastic male external genitalia - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Microphthalmia - Molar tooth sign on MRI - Muscular hypotonia - Neonatal breathing dysregulation - Nephronophthisis - Nystagmus - Oculomotor apraxia - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Renal cyst - Retinal dystrophy - Thickened superior cerebellar peduncle - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Joubert syndrome 2 +What are the symptoms of Deafness nephritis anorectal malformation ?,"What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autosomal dominant inheritance - Rectovaginal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness nephritis anorectal malformation +What are the symptoms of Symmetrical thalamic calcifications ?,"What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Cerebral calcification 90% Cognitive impairment 90% EEG abnormality 90% Hypertonia 90% Microcephaly 50% Polyhydramnios 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Symmetrical thalamic calcifications +What are the symptoms of Mucolipidosis III alpha/beta ?,"What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing abnormality 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Prominent occiput 90% Short stature 90% Visual impairment 90% Acne 50% Coarse facial features 50% Hernia of the abdominal wall 50% Hyperlordosis 50% Abnormality of the aortic valve 7.5% Cleft palate 7.5% Reduced bone mineral density 7.5% Aortic regurgitation - Autosomal recessive inheritance - Broad ribs - Carpal bone hypoplasia - Craniosynostosis - Deficiency of N-acetylglucosamine-1-phosphotransferase - Dysostosis multiplex - Hyperopic astigmatism - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Intellectual disability - Irregular carpal bones - J-shaped sella turcica - Mandibular prognathia - Retinal degeneration - Scoliosis - Shallow acetabular fossae - Short long bone - Short ribs - Soft tissue swelling of interphalangeal joints - Specific learning disability - Split hand - Thickened skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucolipidosis III alpha/beta +What are the symptoms of Chitayat Meunier Hodgkinson syndrome ?,"What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Epicanthus 90% Frontal bossing 90% Glossoptosis 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Oral cleft 90% Proptosis 90% Proximal placement of thumb 90% Sandal gap 90% Short distal phalanx of finger 90% Triphalangeal thumb 90% Underdeveloped supraorbital ridges 90% Abnormal hair quantity 50% Abnormality of dental color 50% Carious teeth 50% Microdontia 50% Cleft palate - Easily subluxated first metacarpophalangeal joints - Hyperconvex nail - Pierre-Robin sequence - Tapered finger - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chitayat Meunier Hodgkinson syndrome +What are the symptoms of Hairy nose tip ?,"What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hairy nose tip +What is (are) Ribbing disease ?,"Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function). The cause of the condition is currently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion. Optimal treatment for the disease is largely unknown. There have been case reports describing treatment of Ribbing disease with bisphosphonate pamidronate. Results have been mixed. The condition often resolves on its own; however cases of progressive disease have been described.",GARD,Ribbing disease +What are the symptoms of Ribbing disease ?,"What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Diaphyseal sclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ribbing disease +What are the symptoms of Phosphoglycerate mutase deficiency ?,"What are the signs and symptoms of Phosphoglycerate mutase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myalgia - Myoglobinuria - Myopathy - Renal insufficiency - Rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Phosphoglycerate mutase deficiency +What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ?,"What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Miles-Carpenter x-linked mental retardation syndrome +"What are the symptoms of Limb-girdle muscular dystrophy, type 2G ?","What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal recessive inheritance - Calf muscle hypertrophy - Difficulty climbing stairs - Difficulty running - Difficulty walking - Distal lower limb amyotrophy - Distal lower limb muscle weakness - Elevated serum creatine phosphokinase - Foot dorsiflexor weakness - Increased connective tissue - Increased variability in muscle fiber diameter - Muscular dystrophy - Proximal muscle weakness in upper limbs - Proximal upper limb amyotrophy - Rimmed vacuoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Limb-girdle muscular dystrophy, type 2G" +What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ?,"What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of cerebellar vermis - Atria septal defect - Autosomal recessive inheritance - Cerebellar hypoplasia - Porencephaly - Situs inversus totalis - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Porencephaly cerebellar hypoplasia internal malformations +What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ?,"What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypercalcemia - Hypermagnesemia - Hyperparathyroidism - Hypocalciuria - Nephrolithiasis - Pancreatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hypocalciuric hypercalcemia type 1 +What are the symptoms of HurlerScheie syndrome ?,"What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the heart valves 90% Abnormality of the tonsils 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal pyramidal signs 50% Decreased nerve conduction velocity 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Depressed nasal bridge - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Recurrent respiratory infections - Scoliosis - Thick vermilion border - Tracheal stenosis - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,HurlerScheie syndrome +What is (are) Pyruvate dehydrogenase deficiency ?,"Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy.",GARD,Pyruvate dehydrogenase deficiency +What are the symptoms of Pyruvate dehydrogenase deficiency ?,"What are the signs and symptoms of Pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency can have a significant effect on fetal development, which may become apparent during late pregnancy with poor fetal weight gain and decreasing levels of estriol in the urine of the mother during pregnancy. Delivery may be complicated, and babies may have low Apgar scores. A low birth weight is common. It has been suggested that there is a characteristic abnormal appearance associated with PDH deficiency, which may include a narrow head, prominent forehead (frontal bossing), wide nasal bridge, long philtrum and flared nostrils; however, these are not seen in all individuals and these features may occur with other disorders as well. Other abnormalities that have been reported include a simian crease, short neck, slight shortening of the limbs, flexion contractures (bent fingers), pes cavus (high arched foot), club foot, ventricular septal defect, and hydronephrosis. Individuals with PDH deficiency typically develop symptoms soon after birth. In general, there are two major types of onset: metabolic and neurological. The metabolic type presents as severe lactic acidosis (too much lactate in the bloodstream). This often does not respond to treatment, thus many of the individuals with this type of onset die during the newborn period (in very few cases, the lactic acidosis has been reported to respond to high doses of thiamine). Some individuals with severe lactic acidosis have also had severe hyperammonemia (high levels of ammonia in the blood). Individuals with the neurological type typically have hypotonia (poor muscle tone), poor feeding, and lethargy, and they later develop seizures. This type typically progresses to severe mental retardation, microcephaly (small head), blindness, and spasticity with secondary contractures (damage to muscles and tendons). However, long term survival is possible and several individuals with this type have reportedly reached their teens. Between these two extremes, there is a continuous range of intermediate forms. When the metabolic abnormalities (lactic acidosis and hyperammonemia) are less severe, the onset may be delayed until later in infancy, and these individuals may have intermittent episodes of lactic acidosis, which often is brought on by an illness and is associated with cerebellar ataxia (abnormal muscle movement). Some of the individuals with primarily neurological symptoms are said to have Leigh's disease. Although PDH deficiency occurs in males and females equally, the presentation of the disease differs between them. The metabolic type, especially the severe neonatal lactic acidosis, is much more common in males; the chronic, neurological form is much more common in females. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Feeding difficulties in infancy 90% Muscular hypotonia 90% Reduced consciousness/confusion 90% Abnormal pattern of respiration 50% Abnormal pyramidal signs 50% Abnormality of eye movement 50% Aplasia/Hypoplasia of the corpus callosum 50% Chorea 50% Cognitive impairment 50% Gait disturbance 50% Hypertonia 50% Incoordination 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Seizures 50% Tremor 50% Abnormal facial shape 35% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Cerebral palsy 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Long philtrum 7.5% Multiple lipomas 7.5% Narrow face 7.5% Pectus excavatum 7.5% Respiratory insufficiency 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Phenotypic variability - Ptosis - Severe lactic acidosis - Small for gestational age - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyruvate dehydrogenase deficiency +What causes Pyruvate dehydrogenase deficiency ?,"What causes pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency is usually caused by a deficiency of one or more enzymes or cofactors (such as thiamine) that are needed for an important chemical reaction in the cells of the body. These enzymes or cofactors are part of the pyruvate dehydrogenase complex and normally convert (or aid in converting) a chemical called pyruvate to another chemical called acetyl-coenzyme A (CoA), which is one of two important chemicals the body needs to make citrate for the cells. Because pyruvate cannot be converted to acetyl-CoA, there is too much pyruvate in the cells, which then gets used to produce more lactic acid (which is toxic in large amounts) and alanine; there is also not enough citrate being made by the body. Citrate is the first step in another important group of chemical reactions called the citric acid cycle, which then cannot proceed. The body tries to make alternate pathways to produce more acetyl-CoA, but there is still not enough energy made in the body, especially in the central nervous system (CNS). The amount of energy that is deficient depends on the amount of the enzyme that is deficient. The condition is sometimes referred to as pyruvate dehydrogenase complex (PDHC) deficiency because there is a ""complex"" of three enzymes normally used in the reaction; when any one or more of the enzymes needed for the above-described reaction are deficient, the condition results. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the X-linked dominant E1 alpha gene; all other causes are thought to be due to mutations in recessive genes.",GARD,Pyruvate dehydrogenase deficiency +Is Pyruvate dehydrogenase deficiency inherited ?,"How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene from one parent is capable of causing disease, even though a matching gene from the other parent is normal. The abnormal gene ""dominates"" the gene pair. Females have two X chromosomes (one from each parent) and males have one X chromosome from the mother and one Y chromosome from the father. For an X-linked dominant disorder, because one mutated gene is enough to cause the condition, both males and females can have the condition. Because males have no other copy of the X chromosome with a working gene, affected males usually have more severe disease than affected females (who have another X chromosome with a working gene). If the father carries the abnormal X gene, all of his daughters will inherit the disease and none of his sons will have the disease. If the mother carries the abnormal X gene, there is a 50% (1 in 2) chance for each child (whether male or female) to inherit the disease. The condition may also be caused by a new mutation that first appears in an affected individual, without either parent carrying an abnormal gene for the condition. The other genes that are thought to cause pyruvate dehydrogenase deficiency appear to be inherited in an autosomal recessive manner and are not on the sex chromosomes. This means that two non-working copies of the gene that is causing the condition must be present for an individual to have the condition. When an individual has an autosomal recessive condition, each of that person's parents have a non-working copy of the gene and are referred to as ""carriers."" When 2 carriers for the same condition are having children, there is a 25% (1 in 4) chance for each child to have the condition, a 50% (1 in 2) chance for each child to be a carrier like each of the parents, and a 25% chance for each child to not have the condition and not be a carrier.",GARD,Pyruvate dehydrogenase deficiency +How to diagnose Pyruvate dehydrogenase deficiency ?,"Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. How is pyruvate dehydrogenase deficiency diagnosed? The diagnosis of pyruvate dehydrogenase (PDH) deficiency may be considered in any individual with early-onset neurological disease, especially if it appears to be associated with structural abnormalities in the brain and unexplained lactic acidosis. When lactic acid (also called lactate) and pyruvate in the blood do not seem to be significantly high, an important clue to the diagnosis may be high concentrations of lactate and/or pyruvate in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). Additionally, magnetic resonance spectroscopy (MRS) of the brain may show concentrations of lactate in the central nervous system. Analysis of serum and urine amino acids usually shows hyperalaninemia (high levels of the amino acid alanine). When lactic acidosis is present, other disorders involving pyruvate abnormalities are part of the differential diagnosis. However, in all of these conditions, the diagnosis is based on specific laboratory tests. Specific enzyme tests have been designed which measure both the individual's overall PDH activity, as well as each separate component of the complex (because any defect in the complex may cause the condition). The vast majority of individuals with PDH deficiency are found to be deficient in the El enzyme, but abnormalities have also been detected in other components.",GARD,Pyruvate dehydrogenase deficiency +What are the treatments for Pyruvate dehydrogenase deficiency ?,"How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the condition. However, even with treatment, damage to the central nervous system is common. Lactic acid accumulation may be lessened by giving a high fat/low carbohydrate (ketogenic) diet, but this does not alleviate the neurological symptoms, because structural damage in the brain is typically present from before birth. There is some evidence that a medication called dichloroacetate may reduce the metabolic issues in some patients. The standard of care is to supplement cofactors, which are substances in the body that help the chemical reactions in the cells to occur; these include thiamine, carnitine, and lipoic acid. The individuals with PDH deficiency that respond to these cofactors (especially thiamine) usually have a better outcome. However, giving all of these cofactors to all patients with PDH deficiency is typical in order to optimize pyruvate dehydrogenase complex function. Oral citrate is often used to treat acidosis.",GARD,Pyruvate dehydrogenase deficiency +"What is (are) Craniometaphyseal dysplasia, autosomal dominant ?","Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.",GARD,"Craniometaphyseal dysplasia, autosomal dominant" +"What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ?","What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nasopharynx - Abnormality of the vertebral column - Autosomal dominant inheritance - Bony paranasal bossing - Calvarial osteosclerosis - Club-shaped distal femur - Erlenmeyer flask deformity of the femurs - Macrocephaly - Mandibular prognathia - Metaphyseal widening - Misalignment of teeth - Mixed hearing impairment - Nasal obstruction - Sclerosis of skull base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Craniometaphyseal dysplasia, autosomal dominant" +"What causes Craniometaphyseal dysplasia, autosomal dominant ?","What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear.",GARD,"Craniometaphyseal dysplasia, autosomal dominant" +"Is Craniometaphyseal dysplasia, autosomal dominant inherited ?","How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,"Craniometaphyseal dysplasia, autosomal dominant" +"What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ?","How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.",GARD,"Craniometaphyseal dysplasia, autosomal dominant" +What is (are) Mulibrey Nanism ?,"Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.",GARD,Mulibrey Nanism +What are the symptoms of Mulibrey Nanism ?,"What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow discoloration of the eyes and other ocular abnormalities may be present, but vision is usually normal. More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull. Infants with mulibrey nanism may also have symptoms related to overgrowth of the fibrous sac surrounding the heart (constrictive pericarditis). When constrictive pericarditis is present at birth, affected infants may have a bluish discoloration of the skin (cyanosis), especially on the lips and fingertips. Individuals with MN typically have a high-pitched voice. Other symptoms may include abnormally prominent veins in the neck, congestion in the lungs, abnormal fluid accumulation in the abdomen (ascites), swelling of the arms and/or legs (peripheral edema), and/or enlargement of the heart (cardiac hypertrophy) and/or liver (hepatomegaly). There may also be elevated pressure in the veins, congestion or blockage in the main artery serving the lungs (pulmonary artery), and/or a build-up of fibrous tissue in the walls of the lungs (pulmonary fibrosis). Associated complications of these conditions may lead to congestive heart failure. In some cases, individuals with mulibrey nanism may have additional physical abnormalities, such as an unusually thin shinbone (fibrous tibia dysplasia). Large cerebral ventricles in the brain and delayed motor development are uncommon findings. Most affected individuals have normal intelligence. Individuals with mulibrey nanism often have underdevelopment of various endocrine glands, that leads to hormone deficiencies. Delayed puberty sometimes occurs, accompanied by infrequent or very light menstrual periods. Females have an increased risk for premature ovarian failure and ovarian tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Mulibrey Nanism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased body weight 90% Intrauterine growth retardation 90% Macrocephaly 90% Short stature 90% Hepatomegaly 50% Wide nasal bridge 50% Absent frontal sinuses - Astigmatism - Autosomal recessive inheritance - Congestive heart failure - Dental crowding - Depressed nasal bridge - Dolichocephaly - Dysarthria - Frontal bossing - High pitched voice - Hypertelorism - Hypodontia - Hypoplastic frontal sinuses - J-shaped sella turcica - Microglossia - Muscular hypotonia - Myocardial fibrosis - Nephroblastoma (Wilms tumor) - Nevus - Pericardial constriction - Pigmentary retinopathy - Strabismus - Triangular face - Ventriculomegaly - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mulibrey Nanism +How to diagnose Mulibrey Nanism ?,"Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratories conducting testing, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Mulibrey Nanism +What is (are) Ainhum ?,"Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.",GARD,Ainhum +What are the symptoms of Ainhum ?,"What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ainhum +What is (are) Desmoplastic small round cell tumor ?,"Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction. DSRCTs are treated first with chemotherapy, then with surgery to remove the tumor, if possible. Radiation therapy is sometimes given, depending on the tumor. In addition, some people with DSRCT are candidates for a bone marrow transplant.",GARD,Desmoplastic small round cell tumor +What is (are) Kallmann syndrome ?,"Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with undescended testicles or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass; decreased testicular volume; erectile dysfunction; diminished libido; and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the genetic cause. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.",GARD,Kallmann syndrome +What are the symptoms of Kallmann syndrome ?,"What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the sense of smell 90% Anterior hypopituitarism 90% Decreased fertility 90% Erectile abnormalities 90% Hypoplasia of penis 90% Abnormality of the voice 50% Breast aplasia 50% Cryptorchidism 50% Primary amenorrhea 50% Reduced bone mineral density 50% Abnormality of color vision 7.5% Cleft palate 7.5% Delayed skeletal maturation 7.5% Gait disturbance 7.5% Gynecomastia 7.5% Hemiplegia/hemiparesis 7.5% Ichthyosis 7.5% Incoordination 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Obesity 7.5% Pes cavus 7.5% Ptosis 7.5% Recurrent fractures 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Skeletal dysplasia 7.5% Tremor 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kallmann syndrome +Is Kallmann syndrome inherited ?,"How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present.",GARD,Kallmann syndrome +What are the symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome ?,"What are the signs and symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Skin fragility-woolly hair-palmoplantar keratoderma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system - Alopecia - Autosomal recessive inheritance - Failure to thrive - Fragile skin - Nail dysplasia - Nail dystrophy - Palmoplantar keratosis with erythema and scale - Sparse eyebrow - Sparse eyelashes - Woolly hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Skin fragility-woolly hair-palmoplantar keratoderma syndrome +What is (are) Congenital diaphragmatic hernia ?,"Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence. CDH may allow the stomach and intestines to move into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially causing life-threatening complications. CDH has many different causes and occurs with other malformations in some cases. Treatment options depend on the severity of the defect.",GARD,Congenital diaphragmatic hernia +What are the symptoms of Congenital diaphragmatic hernia ?,"What are the signs and symptoms of Congenital diaphragmatic hernia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital diaphragmatic hernia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital diaphragmatic hernia 90% Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital diaphragmatic hernia +What causes Congenital diaphragmatic hernia ?,"What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include: a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material) a mutation in a major gene important for diaphragm development combined effects of multiple minor genetic mutations or variants (polygenic inheritance) effects of gene-environment interactions (multifactorial inheritance) effects of non-genetic factors (e.g. epigenetic or teratogenic) GeneReviews has more detailed information about causes of CDH; this information can be viewed by clicking here.",GARD,Congenital diaphragmatic hernia +What is (are) Pilomatrixoma ?,"Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes (mutations) in the CTNNB1 gene are found in most isolated pilomatrixomas. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome; in these cases, affected people usually have other characteristic signs and symptoms of the associated condition. They are usually treated with surgical excision.",GARD,Pilomatrixoma +What are the symptoms of Pilomatrixoma ?,"What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Pilomatrixoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pilomatrixoma +What causes Pilomatrixoma ?,"What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tumor cells. The CTNNB1 gene encodes a protein that is needed to regulate cell growth and attachment. When the gene is not working properly, it can result in abnormal cell growth. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic features of the associated condition.",GARD,Pilomatrixoma +Is Pilomatrixoma inherited ?,"Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic signs and symptoms of the associated condition. All three of these conditions are inherited in an autosomal dominant manner. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family.",GARD,Pilomatrixoma +How to diagnose Pilomatrixoma ?,"How is a pilomatrixoma diagnosed? A diagnosis of pilomatrixoma is usually suspected on physical examination. Specialized tests may be ordered to confirm the diagnosis and rule out other conditions that cause similar features. These tests may include an ultrasound, an X-ray, and/or a small biopsy of the tumor.",GARD,Pilomatrixoma +What are the treatments for Pilomatrixoma ?,"How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete.",GARD,Pilomatrixoma +What are the symptoms of Leber congenital amaurosis 15 ?,"What are the signs and symptoms of Leber congenital amaurosis 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypermetropia 5% Abnormality of color vision - Autosomal recessive inheritance - Constriction of peripheral visual field - Impaired smooth pursuit - Myopia - Nyctalopia - Nystagmus - Optic disc pallor - Pigmentary retinopathy - Retinal degeneration - Rod-cone dystrophy - Slow pupillary light response - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 15 +What are the symptoms of Hereditary vascular retinopathy ?,"What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary vascular retinopathy +What is (are) Tranebjaerg Svejgaard syndrome ?,"Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include medications to control seizures.",GARD,Tranebjaerg Svejgaard syndrome +What are the symptoms of Tranebjaerg Svejgaard syndrome ?,"What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Dry skin 90% High forehead 90% Macrotia 90% Muscular hypotonia 90% Neurological speech impairment 90% Open mouth 90% Seizures 90% Strabismus 90% Abnormality of the palate 50% Abnormality of the tongue 50% Anteverted nares 50% Incoordination 50% Mandibular prognathia 50% Respiratory insufficiency 50% Scoliosis 50% Thick lower lip vermilion 50% Wide mouth 50% Wide nasal bridge 50% Arachnodactyly 7.5% Camptodactyly of finger 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Hemiplegia/hemiparesis 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Long penis 7.5% Palmoplantar keratoderma 7.5% Proximal placement of thumb 7.5% Single transverse palmar crease 7.5% Intellectual disability - Psoriasis - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tranebjaerg Svejgaard syndrome +What causes Ewing's family of tumors ?,"What causes Askins tumor? In 80% to 90% of Askins tumors, a part of chromosome 11 and chromosome 22 are translocated. 'Translocation' means that the chromosomes have exchanged material. This exchange of material interrupts the cell's ability to grow and divide normally. In general, cancers are caused when the genes that regulate the cell's growth and division are changed. The cause of the changes is unknown, but may be due to a combination of genetic factors, environmental factors, and the process of aging. The development of cancer is not a quick or simple process. It is a progression involving a build-up of changes in a number of different genes in the cells of the body tissues over time.",GARD,Ewing's family of tumors +What is (are) Congenital contractural arachnodactyly ?,"Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; ""crumpled""-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.",GARD,Congenital contractural arachnodactyly +What are the symptoms of Congenital contractural arachnodactyly ?,"What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing). At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital contractural arachnodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the palate 90% Arachnodactyly 90% Camptodactyly of finger 90% Disproportionate tall stature 90% External ear malformation 90% Elbow flexion contracture 86% Knee flexion contracture 81% Crumpled ear 78% Kyphoscoliosis 45% Talipes equinovarus 32% Hip contracture 25% Abnormality of the mitral valve 7.5% Aortic dilatation 7.5% Duodenal stenosis 7.5% Ectopia lentis 7.5% Intestinal malrotation 7.5% Tracheoesophageal fistula 7.5% Adducted thumb - Aortic root dilatation - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Brachycephaly - Calf muscle hypoplasia - Congenital kyphoscoliosis - Distal arthrogryposis - Dolichocephaly - Frontal bossing - High palate - Mitral regurgitation - Mitral valve prolapse - Motor delay - Myopia - Osteopenia - Patellar dislocation - Patellar subluxation - Patent ductus arteriosus - Pectus carinatum - Short neck - Ulnar deviation of finger - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital contractural arachnodactyly +What causes Congenital contractural arachnodactyly ?,"What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features of congenital contractural arachnodactyly.",GARD,Congenital contractural arachnodactyly +Is Congenital contractural arachnodactyly inherited ?,"How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,Congenital contractural arachnodactyly +What are the treatments for Congenital contractural arachnodactyly ?,"How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development.",GARD,Congenital contractural arachnodactyly +What is (are) Geographic tongue ?,"Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called ""areata migrans"" because they typically disappear from one area and move to another. The tongue is normally covered with tiny, pinkish-white bumps (papillae), which are actually short, fine, hair-like projections. With geographic tongue, patches on the surface of the tongue are missing papillae and appear as smooth, red ""islands,"" often with slightly raised borders. These patches (lesions) give the tongue a map-like, or geographic, appearance. In most cases there are no symptoms but sometimes it is painful when inflamed. The cause is still unknown. Many researchers think it is linked with psoriasis but more research is needed to better understand the connection. Also, hereditary and environmental factors may be involved. The condition is benign and localized, generally requiring no treatment except reassurance. If painful it may be treated with steroid gels or antihistamine mouth rinses.[12267]",GARD,Geographic tongue +What are the symptoms of Geographic tongue ?,"What are the signs and symptoms of Geographic tongue? The lesions seen in geographic tongue resemble those of psoriasis. Most patients do not experience symptoms. It has been estimated that about 5% of individuals who have geographic tongue complain of sensitivity to hot or spicy foods when the their lesions are active. The Human Phenotype Ontology provides the following list of signs and symptoms for Geographic tongue. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Furrowed tongue - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Geographic tongue +What causes Geographic tongue ?,"What causes geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. A study by Guimares (2007) showed that a specific variant of a gene called IL-1B (interleukin-1 beta) is associated with an increased risk of developing geographic tongue and suggests a genetic basis for the development of the disease. Further research may result in a better understanding of the genetic influences involved in the development of geographic tongue.",GARD,Geographic tongue +What are the treatments for Geographic tongue ?,"What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical corticosteroids, zinc supplements, and topical anesthetic rinses seem to reduce the discomfort in some patients.",GARD,Geographic tongue +What is (are) Synovial Chondromatosis ?,"Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.",GARD,Synovial Chondromatosis +What causes Synovial Chondromatosis ?,"What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not inherited. Synovial chondromatosis can reportedly occur as either a primary or secondary form. Primary synovial chondromatosis, which is more rare, occurs spontaneously and does not appear to relate to any pre-existing conditions. Secondary synovial chondromatosis is the more common form and often occurs when there is pre-existent osteoarthritis, rheumatoid arthritis, osteonecrosis, osteochondritis dissecans, neuropathic osteoarthropathy (which often occurs in diabetic individuals), tuberculosis, or osteochondral fractures (torn cartilage covering the end of a bone in a joint) in the affected individual.",GARD,Synovial Chondromatosis +What are the symptoms of Mucopolysaccharidosis type VI ?,"What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type VI +What is (are) Congenital laryngeal palsy ?,"Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may be bilateral or unilateral. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve. Bilateral vocal fold paralysis signals and symptoms may include making a noise when breathing (inspiratory stridor) that worsens upon exercise, progressive obstruction of the respiratory airway, aspiration, recurrent chest infections, cyanosis, nose flaring and signs of cranial nerve deficits during the head and neck exam. Flexible endoscopy usually elucidates the diagnosis by demonstrating vocal fold paralysis and no other abnormality. Treatment may include medication, operations and speech therapy.",GARD,Congenital laryngeal palsy +What are the symptoms of Congenital laryngeal palsy ?,What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformations of the Larynx,GARD,Congenital laryngeal palsy +What causes Congenital laryngeal palsy ?,"What is the cause of congenital laryngeal paralysis? The cause is often unknown (idiopathic). Congenital bilateral vocal cord paralysis may occur as a result of the immaturity of the nerve or muscle (neuromuscular) or as a result of central nervous system problems, such as Arnold-Chiari syndrome, cerebral palsy, hydrocephalus, myelomeningocele, spine bifida, hypoxia (lack of oxygen in the blood), or bleeding. In other cases the vocal cords' paralysis is acquired. For example, a birth trauma may cause tension in the neck and lead to bilateral vocal cord paralyses that can last 6-9 months. Other causes may include: Surgical Trauma Malignancies Delayed endotracheal intubation Neurological diseases Strokes Choking Diseases that result in inflammation of the vocal cords or the laryngeal cartilage (Wegener's granulomatosis, sarcoidosis or polychondritis, gout, syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) Diabetes mellitus, which may lead to a neuropathy resulting in vocal cord paralysis Gastroesophageal reflux (GER). The unilateral paralysis is usually idiopathic but may also be secondary to mediastinal lesions, such as tumors or vascular malformations or iatrogenic (caused by damage to the left recurrent laryngeal nerve during surgery in this area, such as heart surgery). It may also result from problems of the mechanical structures of the larynx as the cricoarytenoid joint. The following online resources provide more information on the cause of congenital laryngeal paralysis: American Academy of Otolaringology Medscape Reference - Congenital Malformations of the Larynx",GARD,Congenital laryngeal palsy +How to diagnose Congenital laryngeal palsy ?,How is congenital laryngeal paralysis diagnosed? The following online resources provide information on the diagnosis of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis American Speech-Language-Hearing Association (ASHA) - Vocal Cord Paralysis Medscape Reference - Congenital Malformations of the Larynx,GARD,Congenital laryngeal palsy +What are the treatments for Congenital laryngeal palsy ?,"What treatment is available for congenital laryngeal paralysis? The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a speech-language pathologist may be needed for voice therapy, which may involve exercises to strengthen the vocal folds or improve breath control while speaking. Patients may also learn how to use the voice differently, for example, by speaking more slowly or opening the mouth wider when speaking. Treatment may include: Corticosteroids: When there is an associated disease such as Wegener's granulomatosis, sarcoidosis or polychondritis. Medical treatment of the disease that lead to an inflammation of the cricoarytenoid joint ( gout) or the laryngeal mucosa such as syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) to improve breathing. Diabetes treatment: Can help to improve a neuropathy of the vocal cords caused by the diabetes mellitus. Treatment of reflux: When the condition is caused by the gastroesophageal reflux. Treatment of the eventual scarring of the arytenoid cartilages. Several surgical procedures depending on whether one or both of the vocal cords are paralyzed. The most common procedures change the position of the vocal fold. These may involve inserting a structural implant or stitches to reposition the laryngeal cartilage and bring the vocal folds closer together. These procedures usually result in a stronger voice. Surgery is followed by additional voice therapy to help fine-tune the voice: Functional procedures as microflap, laryngectomy (similar to tracheostomy) with subsequent cricoidotomia (removal of the cricoid cartilage) and cartilage graft and stent (or stent placement only) or reconstruction of the local mucosa with scar removal. Tracheotomy: May be required to help breathing. In a tracheotomy, an incision is made in the front of the neck and a breathing tube is inserted through an opening, called a stoma, into the trachea. Rather than occurring through the nose and mouth, breathing now happens through the tube. Following surgery, therapy with a speech-language pathologist helps you learn how to use the voice and how to properly care for the breathing tube Permanent treatments with removal of the vocal cords (unilateral or bilateral) or the arytenoid cartilage (endoscopic or external, partial or complete) or changing the position of the vocal cords. Other treatment may include: Reinnervation techniques (experimental) Electrical stimulation (experimental). Most cases of unilateral vocal cord paralysis do not need any treatment. Adopting a vertical position is sometimes enough to relieve breathing problems but in some patients it may require an intubation.",GARD,Congenital laryngeal palsy +What is (are) Alopecia totalis ?,"Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.",GARD,Alopecia totalis +What are the symptoms of Alopecia totalis ?,"What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia totalis +What are the symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome ?,"What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant compelling helio ophthalmic outburst syndrome +What is (are) Opitz G/BBB syndrome ?,"Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family. There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individuals specific needs.",GARD,Opitz G/BBB syndrome +What are the symptoms of Opitz G/BBB syndrome ?,"What are the signs and symptoms of Opitz G/BBB syndrome? Opitz G/BBB syndrome mainly affects structures along the midline of the body. The most common features of the condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia); and in males, the urethra opening on the underside of the penis (hypospadias). Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Delays in motor skills, speech delays, and learning difficulties may also occur. Some individuals with Opitz G/BBB syndrome have features similar to autistic spectrum disorders, including impaired communication and socialization skills. About half of affected individuals also have cleft lip with or without a cleft palate. Some have cleft palate alone. Heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as an absence of the tissue connecting the left and right halves of the brain (agenesis of the corpus callosum) occur in less than 50 percent of those affected. Facial abnormalities that may be seen in this disorder can include a flat nasal bridge, thin upper lip, and low set ears. These features vary among affected individuals, even within the same family. The signs and symptoms of the autosomal dominant form of the condition are comparable to those seen in the X-linked form. However, the X-linked form of Opitz G/BBB syndrome tends to include cleft lip with or without cleft palate, while cleft palate alone is more common in the autosomal dominant form. Females with X-linked Opitz G/BBB syndrome are usually mildly affected, as hypertelorism may be the only sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Opitz G/BBB syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Anteverted nares 90% Displacement of the external urethral meatus 90% Epicanthus 90% Abnormality of the voice 50% Cognitive impairment 50% Respiratory insufficiency 50% Increased number of teeth 7.5% Low-set, posteriorly rotated ears 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Prominent metopic ridge 7.5% Reduced number of teeth 7.5% Sensorineural hearing impairment 7.5% Craniosynostosis 5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the nasopharynx - Abnormality of the ureter - Absent gallbladder - Agenesis of corpus callosum - Anal atresia - Anal stenosis - Aplasia/Hypoplasia of the cerebellar vermis - Aspiration - Atria septal defect - Autosomal dominant inheritance - Bifid scrotum - Bifid uvula - Cavum septum pellucidum - Cerebellar vermis hypoplasia - Cerebral cortical atrophy - Cleft palate - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Cranial asymmetry - Cryptorchidism - Depressed nasal bridge - Diastasis recti - Dysphagia - Frontal bossing - Gastroesophageal reflux - Hiatus hernia - High palate - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Laryngeal cleft - Muscular hypotonia - Patent ductus arteriosus - Posterior pharyngeal cleft - Posteriorly rotated ears - Prominent forehead - Pulmonary hypertension - Pulmonary hypoplasia - Short lingual frenulum - Smooth philtrum - Strabismus - Telecanthus - Tracheoesophageal fistula - Umbilical hernia - Ventricular septal defect - Ventriculomegaly - Weak cry - Wide nasal bridge - Widow's peak - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Opitz G/BBB syndrome +What causes Opitz G/BBB syndrome ?,"What causes Opitz G/BBB syndrome? The X-linked form of Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a specific protein called midline-1. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). The MID1 gene is a member of a group of genes called the TRIM (tripartite motif) family. The proteins produced from this large family of genes are involved in many cellular activities. Primarily, TRIM proteins play a role in the cell machinery that breaks down (degrades) unwanted proteins. As part of its protein degrading function, midline-1 is responsible for recycling certain proteins, including phosphatase 2A (PP2A), integrin alpha-4 (ITGA4), and serine/threonine-protein kinase 36 (STK36). The recycling of these three proteins so they can be reused instead of broken down is essential because they are needed for normal cellular functioning. Mutations in the MID1 gene lead to a decrease in midline-1 function, which prevents this protein recycling. As a result, certain proteins are not recycled, and they accumulate in cells. This buildup impairs microtubule function, resulting in problems with cell division and migration. Researchers speculate that the altered midline-1 protein affects how the cells divide and migrate along the midline of the body during development, resulting in the features of Opitz G/BBB syndrome. Some people who have a family history of X-linked Opitz G/BBB syndrome have no detectable MID1 mutation. The reason for this is not yet known, although some researchers have suggested the involvement of other unknown genes. The autosomal dominant form of Opitz G/BBB syndrome is caused by a deletion of a small piece of chromosome 22, specifically 22q11.2, which is why researchers consider this condition to be part of 22q11.2 deletion syndrome. It is not yet known which deleted gene(s) within this region of chromosome 22 specifically cause the signs and symptoms of Opitz G/BBB syndrome. In others with autosomal dominant Opitz G/BBB syndrome, the cause is related to a mutation in the SPECCIL gene. Click on the gene name to learn more about its role in the development of this condition.",GARD,Opitz G/BBB syndrome +Is Opitz G/BBB syndrome inherited ?,"How is Opitz G/BBB syndrome inherited? Opitz G/BBB syndrome often has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes (the other sex chromosome is the Y chromosome). In most cases, males experience more severe symptoms of the disorder than females. This is because females have two different X chromosomes in each cell, and males have one X chromosome and one Y chromosome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons, because fathers only pass a Y chromosome on to their sons (which is what makes them male). In some cases, an affected person inherits a MID1 mutation from an affected parent, while in other cases, it may result from a new mutation in the affected individual. These cases occur in people with no history of the disorder in their family. A female who has the X-linked form of Opitz G/BBB syndrome has a 25% (1 in 4) chance to have a daughter with the mutation, a 25% chance to have a son with the mutation, a 25% chance to have an unaffected daughter, and a 25% chance to have an unaffected son. This also means that there is a 50% chance, with each pregnancy, for the child to inherit the mutation. A male with the X-linked dominant form of Opitz G/BBB syndrome will pass the mutation on to all of his daughters and none of his sons. Researchers have also described an autosomal dominant form of Opitz G/BBB syndrome caused by a deletion in one copy of chromosome 22 in each cell. In some cases, an affected person inherits the chromosome with a deleted segment from a parent, while in other cases, the condition results from a new deletion in the affected individual. These cases occur in people with no history of the disorder in their family. Males and females with the autosomal dominant form of Opitz G/BBB syndrome usually have the same degree of severity of symptoms. A male or female who has the autosomal dominant form of Opitz G/BBB syndrome has a 50% (1 in 2) chance with each pregnancy for the child (male or female) to inherit the genetic abnormality.",GARD,Opitz G/BBB syndrome +How to diagnose Opitz G/BBB syndrome ?,"How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutations in the MID1 gene is available for confirmation. Between 15 and 45% of males with clinically diagnosed Opitz G/BBB syndrome are found to have a mutation in this gene.",GARD,Opitz G/BBB syndrome +What are the treatments for Opitz G/BBB syndrome ?,"How might Opitz G/BBB syndrome be treated? Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB syndrome typically incorporates a multidisciplinary team consisting of various specialists. Treatment for the condition may include surgery for significant abnormalities involving the larynx, trachea and/or esophagus; surgical intervention as needed for hypospadias, cleft lip and/or cleft palate, and imperforate anus; therapy for speech problems; surgical repair as needed for heart defects; neuropsychological support; and special education services.",GARD,Opitz G/BBB syndrome +What is (are) Split hand/foot malformation X-linked ?,"Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.",GARD,Split hand/foot malformation X-linked +What are the symptoms of Split hand/foot malformation X-linked ?,"What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Split hand/foot malformation X-linked +What is (are) Potassium aggravated myotonia ?,"Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium. Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease. Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene. Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).",GARD,Potassium aggravated myotonia +What are the symptoms of Potassium aggravated myotonia ?,"What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Flexion contracture 90% Hypertonia 90% Myalgia 90% Myotonia 90% Chest pain 50% Feeding difficulties in infancy 50% Gait disturbance 50% Abnormality of the nose 7.5% Abnormality of the voice 7.5% Asthma 7.5% Cognitive impairment 7.5% Elevated serum creatine phosphokinase 7.5% Epicanthus 7.5% Hyperkalemia 7.5% Hyperlordosis 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Long philtrum 7.5% Muscle weakness 7.5% Muscular edema 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Short neck 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Apneic episodes in infancy - Autosomal dominant inheritance - Muscle stiffness - Stridor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Potassium aggravated myotonia +What are the symptoms of Papillon Lefevre syndrome ?,"What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Gingivitis 90% Palmoplantar keratoderma 90% Periodontitis 90% Premature loss of primary teeth 90% Pustule 90% Reduced number of teeth 90% Cerebral calcification 50% Recurrent respiratory infections 50% Skin ulcer 50% Arachnodactyly 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Liver abscess 7.5% Melanoma 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Atrophy of alveolar ridges - Autosomal recessive inheritance - Choroid plexus calcification - Palmoplantar hyperkeratosis - Premature loss of teeth - Severe periodontitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Papillon Lefevre syndrome +What are the symptoms of Aplasia cutis congenita of limbs recessive ?,"What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly 7.5% Skin ulcer 7.5% Toe syndactyly 7.5% Aplasia cutis congenita - Autosomal recessive inheritance - Congenital absence of skin of limbs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aplasia cutis congenita of limbs recessive +What are the symptoms of Giant platelet syndrome ?,"What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Giant platelet syndrome +What is (are) Multiple pterygium syndrome lethal type ?,"Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.",GARD,Multiple pterygium syndrome lethal type +What are the symptoms of Multiple pterygium syndrome lethal type ?,"What are the signs and symptoms of Multiple pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Amniotic constriction ring 90% Camptodactyly of finger 90% Cystic hygroma 90% Epicanthus 90% Hydrops fetalis 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Polyhydramnios 90% Popliteal pterygium 90% Upslanted palpebral fissure 90% Webbed neck 90% Aplasia/Hypoplasia of the lungs 50% Cleft palate 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Short thorax 50% Abnormal dermatoglyphics 7.5% Abnormality of the upper urinary tract 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Intestinal malrotation 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Skeletal muscle atrophy 7.5% Synostosis of joints 7.5% Abnormal cervical curvature - Abnormal facial shape - Akinesia - Amyoplasia - Autosomal recessive inheritance - Depressed nasal ridge - Edema - Fetal akinesia sequence - Flexion contracture - Hypoplastic heart - Increased susceptibility to fractures - Joint dislocation - Low-set ears - Multiple pterygia - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple pterygium syndrome lethal type +What is (are) Glass-Chapman-Hockley syndrome ?,"The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly). The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.",GARD,Glass-Chapman-Hockley syndrome +What are the symptoms of Glass-Chapman-Hockley syndrome ?,"What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. The coronal suture is found between the parts of the skull called the frontal bone and the two parietal bones. Forehead tends to be recessed and flattened. Eye socket is elevated and tilted with protruding eyes. Nose slants to one side. Very small fingers (brachydactyl). The Human Phenotype Ontology provides the following list of signs and symptoms for Glass-Chapman-Hockley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the distal phalanx of finger 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Frontal bossing 90% Malar flattening 90% Tapered finger 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glass-Chapman-Hockley syndrome +Is Glass-Chapman-Hockley syndrome inherited ?,"How is Glass-Chapman-Hockley syndrome inherited? Based on the only family that has been reported in the medical literature, to date, the syndrome is believed to be inherited in an autosomal dominant manner.",GARD,Glass-Chapman-Hockley syndrome +What are the treatments for Glass-Chapman-Hockley syndrome ?,"How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months of age. If other sutures, other than the coronal suture, are involved, other surgeries may be performed.",GARD,Glass-Chapman-Hockley syndrome +What are the symptoms of Limb deficiencies distal with micrognathia ?,"What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Split foot 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the ulna 7.5% Aplasia/Hypoplasia of the tongue 7.5% Cleft palate 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Camptodactyly - High palate - Intellectual disability - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb deficiencies distal with micrognathia +What is (are) Pallister-Killian mosaic syndrome ?,"Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.",GARD,Pallister-Killian mosaic syndrome +What are the symptoms of Pallister-Killian mosaic syndrome ?,"What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Decreased body weight 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Downturned corners of mouth 90% Hypohidrosis 90% Joint hypermobility 90% Long philtrum 90% Muscular hypotonia 90% Ptosis 90% Short neck 90% Thin vermilion border 90% Anteverted nares 50% Coarse facial features 50% Frontal bossing 50% Hypertelorism 50% Short nose 50% Telecanthus 50% Upslanted palpebral fissure 50% Abnormality of the soft palate 7.5% Strabismus 7.5% Urogenital fistula 7.5% Anal atresia - Anal stenosis - Anteriorly placed anus - Aortic valve stenosis - Aplasia of the uterus - Atria septal defect - Bifid uvula - Broad foot - Broad palm - Cataract - Cleft palate - Clinodactyly of the 5th finger - Coarctation of aorta - Congenital diaphragmatic hernia - Congenital hip dislocation - Cryptorchidism - Depressed nasal bridge - Epicanthus - Flexion contracture - Full cheeks - Hearing impairment - Hyperpigmented streaks - Hypertonia - Hypertrophic cardiomyopathy - Hypopigmented streaks - Hypoplastic labia majora - Hypospadias - Inguinal hernia - Intellectual disability, profound - Intestinal malrotation - Kyphoscoliosis - Macrocephaly - Macroglossia - Macrotia - Mesomelia - Mesomelic/rhizomelic limb shortening - Obesity - Omphalocele - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Postnatal microcephaly - Prominent forehead - Proptosis - Pulmonary hypoplasia - Renal cyst - Renal dysplasia - Rhizomelia - Seizures - Short phalanx of finger - Short toe - Single transverse palmar crease - Small scrotum - Somatic mosaicism - Sparse anterior scalp hair - Sparse eyebrow - Sparse eyelashes - Stenosis of the external auditory canal - Stillbirth - Supernumerary nipple - Umbilical hernia - Ventricular septal defect - Webbed neck - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pallister-Killian mosaic syndrome +What is (are) COACH syndrome ?,"COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.",GARD,COACH syndrome +What are the symptoms of COACH syndrome ?,"What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,COACH syndrome +How to diagnose COACH syndrome ?,"How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the ""molar tooth sign"" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).",GARD,COACH syndrome +What is (are) Hypotrichosis simplex ?,"Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.",GARD,Hypotrichosis simplex +What are the symptoms of Hypotrichosis simplex ?,"What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypotrichosis 100% Abnormality of the eyelashes 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Congenital, generalized hypertrichosis 50% Woolly hair 50% Hyperkeratosis 7.5% Pruritus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypotrichosis simplex +What are the treatments for Hypotrichosis simplex ?,"Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals. There is currently no treatment for hypotrichosis simplex.",GARD,Hypotrichosis simplex +What are the symptoms of Loose anagen hair syndrome ?,"What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Loose anagen hair syndrome +What are the symptoms of Cleft hand absent tibia ?,"What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 90% Abnormality of the tibia 50% Limitation of joint mobility 50% Abnormality of the femur 7.5% Abnormality of the fibula 7.5% Abnormality of the ulna 7.5% Brachydactyly syndrome 7.5% Finger syndactyly 7.5% Omphalocele 7.5% Overfolded helix 7.5% Patellar aplasia 7.5% Popliteal pterygium 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Absent forearm - Absent tibia - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cupped ear - Monodactyly (hands) - Short hallux - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleft hand absent tibia +What is (are) Chronic hiccups ?,"Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare cases, may continue for over a month. Hiccups that recur over long periods of time are also considered ""chronic."" Depending on how long the hiccups last, affected people may become exhausted, dehydrated and/or lose weight due to interruptions in sleep and normal eating patterns. Other complications may include irregular heart beat and gastroesophageal reflux. The exact underlying cause is often unknown; some cases may be caused by surgery, certain medications and/or a variety of health problems such as central nervous system (brain and spinal cord) abnormalities, psychological problems, conditions that irritate the diaphragm, and metabolic diseases. Treatment of chronic hiccups varies but may include medications and/or surgery.",GARD,Chronic hiccups +What are the symptoms of Chronic hiccups ?,"What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Functional respiratory abnormality 90% Recurrent singultus 90% Abnormality of temperature regulation 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Dehydration 7.5% Diabetes insipidus 7.5% Neoplasm of the nervous system 7.5% Renal insufficiency 7.5% Sleep disturbance 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic hiccups +What causes Chronic hiccups ?,"What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also be associated with a variety of health problems including: Pneumonia, pleurisy and other conditions that irritate the diaphragm Brain abnormalities (i.e. strokes, tumors, injuries, infections) Metabolic disorders Gastrointestinal (esophagus, stomach, small/large intestines) diseases Psychological problems such as hysteria, shock, fear, and personality disorders Liver abnormalities Kidney disorders For a comprehensive listings of factors that can cause chronic hiccups, please click here.",GARD,Chronic hiccups +Is Chronic hiccups inherited ?,Are chronic hiccups inherited? Chronic hiccups are not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.,GARD,Chronic hiccups +How to diagnose Chronic hiccups ?,"How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For more information about the workup and diagnosis of chronic hiccups, please click here.",GARD,Chronic hiccups +What are the treatments for Chronic hiccups ?,"How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valproic acid, and carbamazepine Sedatives Pain medications Stimulants Rarely, medications may not be effective in the treatment of chronic hiccups. In these cases, surgery to temporarily or permanently block the phrenic nerve may be performed. The phrenic nerve controls the diaphragm.",GARD,Chronic hiccups +What is (are) Joubert syndrome ?,Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person.,GARD,Joubert syndrome +What are the symptoms of Joubert syndrome ?,"What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Joubert syndrome +What causes Joubert syndrome ?,"What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems.",GARD,Joubert syndrome +Is Joubert syndrome inherited ?,"How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.",GARD,Joubert syndrome +"What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?","Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" +"What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?","What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" +"Is Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ?","If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" +"What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?","How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a ""Y-V canthoplasty"" is traditionally used; if the epicanthal folds are severe, a ""double Z-plasty"" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance. For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.",GARD,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" +What is (are) Frontonasal dysplasia ?,"Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.",GARD,Frontonasal dysplasia +What are the symptoms of Frontonasal dysplasia ?,"What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertelorism 90% Median cleft lip 50% Midline defect of the nose 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of finger 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Preauricular skin tag 7.5% Short stature 7.5% Single transverse palmar crease 7.5% Webbed neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frontonasal dysplasia +What is (are) Oligoastrocytoma ?,"Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell types, it is known as a mixed glioma. Oligoastrocytomas usually occur in a part of the brain called the cerebrum and are diagnosed in adults between the ages of 30 and 50. The exact cause of this condition is unknown.",GARD,Oligoastrocytoma +What are the symptoms of Perry syndrome ?,"What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function 90% Respiratory insufficiency 90% Sleep disturbance 90% Tremor 90% Weight loss 90% Developmental regression 7.5% Hallucinations 7.5% Hypotension 7.5% Abnormality of metabolism/homeostasis - Apathy - Autosomal dominant inheritance - Bradykinesia - Central hypoventilation - Dysarthria - Hypoventilation - Inappropriate behavior - Insomnia - Mask-like facies - Parkinsonism - Rapidly progressive - Rigidity - Short stepped shuffling gait - Vertical supranuclear gaze palsy - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Perry syndrome +What is (are) Hereditary lymphedema type II ?,"Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.",GARD,Hereditary lymphedema type II +What are the symptoms of Hereditary lymphedema type II ?,"What are the signs and symptoms of Hereditary lymphedema type II? Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary lymphedema type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 7.5% Yellow nails 7.5% Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary lymphedema type II +What causes Hereditary lymphedema type II ?,"What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with this type of lymphedema.",GARD,Hereditary lymphedema type II +Is Hereditary lymphedema type II inherited ?,"How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. When the condition occurs in only one person in a family, the condition is described as Meige-like lymphedema.",GARD,Hereditary lymphedema type II +What is (are) Amyotrophic lateral sclerosis ?,"Amyotrophic lateral sclerosis (ALS), also referred to as ""Lou Gehrig's disease,"" is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). As the disease progresses, individuals become weaker are are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the onset of symptoms. Most affected individuals have a sporadic (not inherited) form of ALS; about 5-10% have a familial (inherited) form of the condition. Familial ALS may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. Treatment is generally supportive.",GARD,Amyotrophic lateral sclerosis +What are the symptoms of Amyotrophic lateral sclerosis ?,"What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Degeneration of anterior horn cells - Degeneration of the lateral corticospinal tracts - Fasciculations - Heterogeneous - Hyperreflexia - Muscle cramps - Muscle weakness - Pseudobulbar paralysis - Skeletal muscle atrophy - Sleep apnea - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyotrophic lateral sclerosis +What causes Amyotrophic lateral sclerosis ?,"What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition. Mutations in any of several genes, including the C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB genes, can cause familial ALS and may contribute to the development of sporadic ALS. About 60% of individuals with familial ALS have an identifiable genetic mutation; the genetic cause in the remaining cases is unknown. The genes associated with ALS appear to play a role in how neurons function or are involved in regulating the production of various proteins. Over the years, various types of environmental exposures have been proposed as possible contributors to the cause of ALS, including mercury, manganese, products used in farming (fertilizers, insecticides, herbicides), and physical and dietary factors. Exposures have been suggested as a possible explanation for the increased incidence of ALS in Gulf War veterans. Further investigation is ongoing.",GARD,Amyotrophic lateral sclerosis +Is Amyotrophic lateral sclerosis inherited ?,"Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes. The inheritance pattern associated with familial ALS varies depending on the disease-causing gene involved. Most familial cases are inherited in an autosomal dominant manner. This means that only one altered (mutated) copy of the disease-causing gene in each cell is sufficient to cause the condition. In most of these cases, an affected individual has one parent with the condition. When an individual with an autosomal dominant form of ALS has children, each child has a 50% (1 in 2) risk to inherited the mutated copy of the gene and be affected. Less frequently, ALS is inherited in an autosomal recessive manner. In autosomal recessive inheritance, both copies of the disease-causing gene (typically one copy inherited from each parent) must have a mutation for the individual to be affected. The parents of an individual with an autosomal recessive condition, who presumably each carry one mutated copy of the gene, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for the same condition are having children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. Autosomal recessive forms of ALS may be mistaken for non-inherited (sporadic) forms due to having a negative family history of the condition. In rare cases, ALS is inherited in an X-linked dominant manner. This occurs when the disease-causing gene is located on the X chromosome (a sex chromosome). Although females have 2 X chromosomes, having a mutation in one X chromosome is still sufficient to cause the condition. Males who have a mutation (and only one X chromosome) will have the condition. Usually, males with an X-linked dominant form of ALS experience more severe symptoms than females with the same form. Some individuals who do inherit a mutation known to cause ALS never develop signs and symptoms of ALS, although the reason for this is unclear. This phenomenon is referred to as reduced penetrance.",GARD,Amyotrophic lateral sclerosis +How to diagnose Amyotrophic lateral sclerosis ?,"Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering clinical and research genetic testing for ALS on a Web site called GeneTests. To see GeneTests' list of the types of ALS for which genetic testing is available, click here. Click on ""Testing"" next to each type of ALS of interest to see a list of the laboratories that offer clinical testing. Click on ""Research"" next to each type of ALS of interest to see a list of the laboratories that offer research testing. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Amyotrophic lateral sclerosis +What are the treatments for Amyotrophic lateral sclerosis ?,"How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, mainly in those with difficulty swallowing. The drug also extends the time before a patient needs ventilation support. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients (palliative care). This supportive care is typically provided by multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; and home care and hospice nurses. Working with patients and caregivers, these teams can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible.",GARD,Amyotrophic lateral sclerosis +What is (are) Blastomycosis ?,"Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.",GARD,Blastomycosis +What are the symptoms of XK aprosencephaly ?,"What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Microcephaly 90% Narrow mouth 90% Abnormality of the gastrointestinal tract 50% Abnormality of the genital system 50% Abnormality of the pharynx 50% Absent nares 50% Aplasia/Hypoplasia of the radius 50% Atria septal defect 7.5% Hypotelorism 7.5% Polyhydramnios 7.5% Ventricular septal defect 7.5% Anencephaly - Aprosencephaly - Autosomal recessive inheritance - Oligodactyly (hands) - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,XK aprosencephaly +What is (are) Familial hypertrophic cardiomyopathy ?,"Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).",GARD,Familial hypertrophic cardiomyopathy +What are the symptoms of Familial hypertrophic cardiomyopathy ?,"What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Arrhythmia - Asymmetric septal hypertrophy - Autosomal dominant inheritance - Congestive heart failure - Subaortic stenosis - Sudden death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hypertrophic cardiomyopathy +What causes Familial hypertrophic cardiomyopathy ?,"What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes known to be responsible for familial HCM give the body instructions to make proteins that play important roles in contraction of the heart muscle. The proteins form structures in muscle cells called sarcomeres, which are needed for muscle contractions. Sarcomeres are made of protein fibers that attach to each other and release, allowing muscles to contract. The contractions of heart muscle are needed to pump blood to the rest of the body. While it is unclear exactly how mutations in these genes cause familial HCM, they are thought to lead to abnormal structure or function of sarcomeres, or reduce the amount of proteins made. When the function of sarcomeres is impaired, normal heart muscle contractions are disrupted.",GARD,Familial hypertrophic cardiomyopathy +Is Familial hypertrophic cardiomyopathy inherited ?,"How is familial hypertrophic cardiomyopathy inherited? Familial hypertrophic cardiomyopathy (HCM) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In rare cases, a person with familial HCM has a mutation in both copies of the responsible gene, which leads to more severe signs and symptoms.",GARD,Familial hypertrophic cardiomyopathy +How to diagnose Familial hypertrophic cardiomyopathy ?,"Is genetic testing available for familial hypertrophic cardiomyopathy? Yes. Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several known genes, and possibly other genes that have not yet been identified. Genetic testing for HCM is most informative as a ""family test"" rather than a test of one person. Results are most accurately interpreted after merging both genetic and medical test results from multiple family members. Ideally, the family member first having genetic testing should have a definitive diagnosis of HCM and be the most severely affected person in the family. Genetic testing of at-risk, asymptomatic relatives is possible when the responsible mutation has been identified in an affected family member. Testing should be performed in the context of formal genetic counseling. An algorithm showing a general approach to finding the specific genetic cause in people with HCM can be viewed here. The Genetic Testing Registry (GTR) provides information about the genetic tests for familial HCM. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. As is often the case with genetic testing in general, there are benefits and limitations of genetic testing for familial HCM. Testing may confirm the diagnosis in a person with symptoms, and may help to identify family members at risk. However, results are sometimes unclear; testing cannot detect all mutations; and results cannot be used to predict whether a person will develop symptoms, age of onset, or long-term outlook (prognosis).",GARD,Familial hypertrophic cardiomyopathy +What are the symptoms of Neutropenia chronic familial ?,"What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neutropenia chronic familial +What are the symptoms of Bork Stender Schmidt syndrome ?,"What are the signs and symptoms of Bork Stender Schmidt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bork Stender Schmidt syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Brachydactyly syndrome 90% Cataract 90% Reduced number of teeth 50% Displacement of the external urethral meatus 7.5% Autosomal dominant inheritance - Hypospadias - Increased number of teeth - Juvenile cataract - Microdontia - Oligodontia - Pili canaliculi - Rod-cone dystrophy - Short metacarpal - Short proximal phalanx of finger - Short toe - Uncombable hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bork Stender Schmidt syndrome +What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ?,"DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion. Affected members in the same family can be very differently affected.",GARD,DICER1-related pleuropulmonary blastoma cancer predisposition syndrome +What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ?,"What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Familial predisposition - Medulloblastoma - Pleuropulmonary blastoma - Rhabdomyosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,DICER1-related pleuropulmonary blastoma cancer predisposition syndrome +What is (are) Unna-Thost palmoplantar keratoderma ?,"Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.",GARD,Unna-Thost palmoplantar keratoderma +What are the symptoms of Unna-Thost palmoplantar keratoderma ?,"What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Nonepidermolytic palmoplantar keratoderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Unna-Thost palmoplantar keratoderma +What are the treatments for Unna-Thost palmoplantar keratoderma ?,How might Unna-Thost palmoplantar keratoderma be treated? The following treatments can help to soften the thickened skin and make it less noticeable: Emollients Keratolytics (such as salicylic acid in propylene glycol) Topical retinoids Topical vitamin D ointment (calcipotriol) Systemic retinoids (acitretin) Antifungal medication may help if the condition occurs along with a fungal infection.,GARD,Unna-Thost palmoplantar keratoderma +What is (are) Phaeohyphomycosis ?,"Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.",GARD,Phaeohyphomycosis +What are the symptoms of Acrofacial dysostosis Catania type ?,"What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 7.5% Webbed neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrofacial dysostosis Catania type +What are the symptoms of Split hand urinary anomalies spina bifida ?,"What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the upper urinary tract 90% Finger syndactyly 90% Abnormality of the antitragus 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the nipples 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Edema 50% Low-set, posteriorly rotated ears 50% Myelomeningocele 50% Patent ductus arteriosus 50% Proximal placement of thumb 50% Sloping forehead 50% Spina bifida occulta 50% Split foot 50% Split hand 50% Thickened skin 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Asymmetric growth 7.5% Hydrocephalus 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Webbed neck 7.5% Abnormality of the diaphragm - Autosomal dominant inheritance - Cutaneous finger syndactyly - Hydronephrosis - Thoracolumbar scoliosis - Ureteral atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Split hand urinary anomalies spina bifida +What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the wrist 90% Hypoplasia of the odontoid process 90% Micromelia 90% Recurrent fractures 90% Short stature 90% Hyperlordosis 50% Abnormality of the metacarpal bones 7.5% Genu valgum 7.5% Kyphosis 7.5% Lower limb asymmetry 7.5% Pes planus 7.5% Scoliosis 7.5% Short distal phalanx of finger 7.5% Tetralogy of Fallot 7.5% Autosomal dominant inheritance - Coxa vara - Hyperconvex vertebral body endplates - Metaphyseal irregularity - Short femoral neck - Spondylometaphyseal dysplasia - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia corner fracture type +What are the symptoms of Bamforth syndrome ?,"What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Choanal atresia 90% Cognitive impairment 90% Hypothyroidism 90% Oral cleft 90% Pili torti 90% Polyhydramnios 90% Autosomal recessive inheritance - Bifid epiglottis - Cleft palate - Thyroid agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bamforth syndrome +What is (are) Acquired hemophilia ?,"Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications. Treatment is aimed at controlling bleeding episodes and addressing the underlying cause of the condition.",GARD,Acquired hemophilia +What is (are) Chronic progressive external ophthalmoplegia ?,"Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.",GARD,Chronic progressive external ophthalmoplegia +What are the symptoms of Chronic progressive external ophthalmoplegia ?,"What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or paralysis of the eye muscles (ophthalmoplegia). The condition may be unilateral (affecting one eye) or bilateral (affecting both eyes). Some affected individuals also have weakness of the skeletal muscles (myopathy), specifically of the arms, legs, and/or neck. This may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). Sometimes, CPEO may be associated with other signs and symptoms. In these cases, the condition is referred to as ""progressive external ophthalmoplegia plus"" (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. CPEO can also occur as part of other underlying conditions such as Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO. The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic progressive external ophthalmoplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Bradykinesia - Cataract - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dysarthria - Dysphagia - EMG: myopathic abnormalities - Exercise intolerance - Facial palsy - Gait ataxia - Gastroparesis - Hypergonadotropic hypogonadism - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Limb muscle weakness - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Premature ovarian failure - Primary amenorrhea - Progressive - Progressive external ophthalmoplegia - Progressive muscle weakness - Ptosis - Ragged-red muscle fibers - Resting tremor - Rigidity - Secondary amenorrhea - Sensorineural hearing impairment - Sensory axonal neuropathy - Skeletal muscle atrophy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic progressive external ophthalmoplegia +Is Chronic progressive external ophthalmoplegia inherited ?,"Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a ""mitochondrial disorder."" This is because all the genetic mutations that can cause CPEO ultimately result in dysfunction of the mitochondria, which are structures in our cells that produce energy required for normal cell function. While most of our DNA is located in the cell's center (nuclear DNA), some of our DNA is located within the mitochondria (mitochondrial DNA). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. Unlike nuclear DNA which is inherited from both the mother and the father, mitochondrial DNA is inherited from only the mother. In CPEO, the affected mitochondria (i.e., the ones carrying the mutations) are found only in the skeletal muscle cells. These mitochondrial DNA mutations are almost always sporadic (occurring by chance for the first time in the affected individual). Nuclear gene mutations that cause CPEO may be inherited in an autosomal recessive or autosomal dominant manner, depending on the gene involved. The risk for other family members to be affected depends on the genetic cause and the inheritance pattern in the family.",GARD,Chronic progressive external ophthalmoplegia +What are the treatments for Chronic progressive external ophthalmoplegia ?,"How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO.",GARD,Chronic progressive external ophthalmoplegia +What is (are) SCOT deficiency ?,"SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene.",GARD,SCOT deficiency +What are the symptoms of SCOT deficiency ?,"What are the signs and symptoms of SCOT deficiency? Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for SCOT deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Episodic ketoacidosis - Ketonuria - Tachypnea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SCOT deficiency +How to diagnose SCOT deficiency ?,How is SCOT deficiency diagnosed? Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity.,GARD,SCOT deficiency +What are the treatments for SCOT deficiency ?,How might carnitine palmitoyltransferase I deficiency be treated? Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose.,GARD,SCOT deficiency +What are the symptoms of Adrenocortical carcinoma ?,"What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenocortical carcinoma - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adrenocortical carcinoma +What is (are) Afibrinogenemia ?,"Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.",GARD,Afibrinogenemia +What are the symptoms of Afibrinogenemia ?,"What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds) and oral mucosal bleeding Hemarthrosis (joint bleeding) and muscle hematoma (bruising) Gastrointestinal bleeding Menorrhagia and postpartum hemorrhage Traumatic and surgical bleeding Spontaneous splenic rupture and intracranial hemorrhage (rare) Miscarriage The Human Phenotype Ontology provides the following list of signs and symptoms for Afibrinogenemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Joint swelling 90% Spontaneous abortion 90% Intracranial hemorrhage 7.5% Autosomal recessive inheritance - Hypofibrinogenemia - Splenic rupture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Afibrinogenemia +What causes Afibrinogenemia ?,"What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG).",GARD,Afibrinogenemia +Is Afibrinogenemia inherited ?,"Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. In order to be affected, these children would also have to inherit a mutated gene from their other parent.",GARD,Afibrinogenemia +What are the treatments for Afibrinogenemia ?,"How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.",GARD,Afibrinogenemia +What are the symptoms of Retinoschisis autosomal dominant ?,"What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of macular pigmentation - Autosomal dominant inheritance - Peripheral retinal degeneration - Retinoschisis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinoschisis autosomal dominant +What are the symptoms of Dennis Fairhurst Moore syndrome ?,"What are the signs and symptoms of Dennis Fairhurst Moore syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dennis Fairhurst Moore syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dennis Fairhurst Moore syndrome +What is (are) Buerger disease ?,Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or other tobacco use. Quitting all forms of tobacco is an essential part of treatment.,GARD,Buerger disease +What are the symptoms of Buerger disease ?,"What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arterial thrombosis 90% Gangrene 90% Skin ulcer 90% Vasculitis 90% Acrocyanosis 50% Arthralgia 50% Paresthesia 50% Hyperhidrosis 7.5% Insomnia 7.5% Autosomal recessive inheritance - Limb pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Buerger disease +What causes Buerger disease ?,"What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. There may be a genetic component to susceptibility to Buerger disease as well. It is possible that these genetic influences account for the higher prevalence of Buerger disease in people of Israeli, Indian subcontinent, and Japanese descent. Certain HLA (human leukocyte antigen) haplotypes have also been found in association with Buerger disease.",GARD,Buerger disease +What are the treatments for Buerger disease ?,"How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. A doctor can help a person with Buerger disease learn about safe medications and programs to combat smoking/nicotine addiction. Continued smoking is associated with an overall amputation rate of 40 to 50 percent. The following treatments may also be helpful, but do not replace smoking/nicotine cessation: Medications to dilate blood vessels and improve blood flow (e.g., intravenous Iloprost) Medications to dissolve blood clots Treatment with calcium channel blockers Walking exercises Intermittent compression of the arms and legs to increase blood flow to your extremities Surgical sympathectomy (a controversial surgery to cut the nerves to the affected area to control pain and increase blood flow) Therapeutic angiogenesis (medications to stimulate growth of new blood vessels) Spinal cord stimulation Amputation, if infection or gangrene occurs",GARD,Buerger disease +What are the symptoms of Game Friedman Paradice syndrome ?,"What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aqueductal stenosis 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Omphalocele 90% Abnormal vertebral ossification 7.5% Abnormality of the fibula 7.5% Abnormality of the ribs 7.5% Cerebral calcification 7.5% Splenomegaly 7.5% Upslanted palpebral fissure 7.5% Abnormality of the foot - Autosomal recessive inheritance - Hydrocephalus - Pulmonary hypoplasia - Short lower limbs - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Game Friedman Paradice syndrome +"What are the symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia ?","What are the signs and symptoms of Early-onset myopathy, areflexia, respiratory distress and dysphagia? The Human Phenotype Ontology provides the following list of signs and symptoms for Early-onset myopathy, areflexia, respiratory distress and dysphagia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Areflexia - Autosomal recessive inheritance - Camptodactyly of finger - Cleft palate - Congenital onset - Decreased fetal movement - Diaphragmatic paralysis - Difficulty running - Dysphagia - Facial palsy - Failure to thrive - High palate - Hyporeflexia - Motor delay - Nasal speech - Neonatal hypotonia - Pectus excavatum - Poor head control - Respiratory failure - Restrictive lung disease - Scoliosis - Talipes equinovarus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Early-onset myopathy, areflexia, respiratory distress and dysphagia" +What is (are) Familial hypercholesterolemia ?,"Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.",GARD,Familial hypercholesterolemia +What are the symptoms of Familial hypercholesterolemia ?,"What are the signs and symptoms of Familial hypercholesterolemia? Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include: Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s. Individuals with the rare, autosomal recessive form of FH (also called homozygous FH) develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy. In individuals with this form of FH, heart attacks and/or death may occur before age 30, sometimes in young children if they are not aggressively treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypercholesterolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal arcus - Hypercholesterolemia - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hypercholesterolemia +Is Familial hypercholesterolemia inherited ?,"How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition. In most cases the mutated gene is inherited from an affected parent, but it is possible for the mutation to occur for the first time in the affected individual. An individual with an autosomal dominant condition has a 50% (1 in 2) chance to pass the mutation on to each of his/her children and a 50% chance to not pass on the mutation. More rarely, familial FH may be inherited in an autosomal recessive manner. This occurs when an individual inherits a mutated copy of the gene from both parents (this is also called homozygous FH). This is a much more severe form of FH. An individual with this form of FH will always pass on a mutated copy of the gene, and therefore each of his/her children will have heterozygous FH.",GARD,Familial hypercholesterolemia +What are the treatments for Familial hypercholesterolemia ?,"How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozygous form (also called the autosomal dominant form) is changing the diet to reduce the total amount of fat eaten. This may be accomplished by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk, fatty cheeses and oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help individuals change their eating habits. Exercise and weight loss may also help in lowering cholesterol levels. Drug therapy is also often necessary lifestyle changes may not be enough to lower cholesterol levels. Several different cholesterol-lowering medications may be used alone or in combination; they may include statins, bile acid sequestrants, ezetemibe, niacin, gemfibrozil, and fenofibrate. Individuals with the more severe, homozygous form of FH (also called the autosomal recessive form) need more aggressive therapies to treat their significantly elevated levels of cholesterol. Drug therapy is often not effective enough at lowering LDL cholesterol levels. Therefore, individuals with this form may need periodical LDL apheresis, a procedure that removes LDL from the blood. In some cases, major surgery such as a liver transplant is necessary.",GARD,Familial hypercholesterolemia +What are the symptoms of Holzgreve syndrome ?,"What are the signs and symptoms of Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lungs 90% Cleft palate 90% Hand polydactyly 90% Intrauterine growth retardation 90% Oligohydramnios 90% Renal hypoplasia/aplasia 90% Abnormal vertebral ossification 50% Abnormality of calvarial morphology 50% Abnormality of the mesentery 50% Abnormality of the metacarpal bones 50% Abnormality of the ribs 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the tongue 50% Bifid tongue 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Macrotia 50% Single umbilical artery 50% Webbed neck 50% Autosomal recessive inheritance - Cleft upper lip - Hypoplastic left heart - Renal agenesis - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Holzgreve syndrome +What are the symptoms of Rhabdomyosarcoma alveolar ?,"What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alveolar rhabdomyosarcoma - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rhabdomyosarcoma alveolar +What are the symptoms of Nodular regenerative hyperplasia ?,"What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatic failure 90% Hypertension 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nodular regenerative hyperplasia +What is (are) Proud syndrome ?,"Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Proud syndrome +What are the symptoms of Proud syndrome ?,"What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Proud syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Seizures 90% Short stature 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Coarse facial features 50% Hypertrichosis 50% Nystagmus 50% Scoliosis 50% Strabismus 50% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Hemiplegia/hemiparesis 7.5% Hernia of the abdominal wall 7.5% Renal hypoplasia/aplasia 7.5% Broad alveolar ridges - Cryptorchidism - High palate - Hirsutism - Hyperconvex nail - Hypospadias - Intellectual disability, progressive - Intellectual disability, severe - Large eyes - Limb joint contracture - Low anterior hairline - Neonatal hypotonia - Optic atrophy - Overlapping toe - Prominent supraorbital ridges - Protruding ear - Renal dysplasia - Spastic tetraplegia - Synophrys - Tapered finger - Tetraplegia - Visual impairment - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Proud syndrome +What causes Proud syndrome ?,"What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles). For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of neurons to their final locations. Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body. This can lead to the many signs and symptoms associated with Proud syndrome.",GARD,Proud syndrome +Is Proud syndrome inherited ?,"How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.",GARD,Proud syndrome +What are the treatments for Proud syndrome ?,"How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.",GARD,Proud syndrome +What is (are) Accessory navicular bone ?,"An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cause irritation, swelling, and pain. Click here to view a diagram of the foot.",GARD,Accessory navicular bone +What are the symptoms of Accessory navicular bone ?,"What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may worsen with increased activity or tight shoes. The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory navicular bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Accessory navicular bone +What causes Accessory navicular bone ?,"What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains.",GARD,Accessory navicular bone +What are the treatments for Accessory navicular bone ?,"How might accessory navicular bone be treated? If the accessory navicular bone is causing symptoms, activities may be restricted and a softer shoe may be recommended until the symptoms go away. If the symptoms persist a specially and carefully made shoe support may be tried. In children the condition usually resolves once the child stops growing. For people with accessory navicular bone who experience severe symptoms surgery may be considered to remove the bony growth. Other treatments may include non-steroidal anti-inflammatories (NSAIDs) such as ibuprofen, placing a doughnut-shaped piece of moleskin around the affected area to relieve pain and tenderness, or immobilizing the area with a cast for six weeks.",GARD,Accessory navicular bone +What is (are) Pseudopseudohypoparathyroidism ?,"Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP.",GARD,Pseudopseudohypoparathyroidism +What are the symptoms of Pseudopseudohypoparathyroidism ?,"What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 5% Autosomal dominant inheritance - Brachydactyly syndrome - Cataract - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Full cheeks - Hypoplasia of dental enamel - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Short metacarpal - Short metatarsal - Short neck - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudopseudohypoparathyroidism +What is (are) Hardikar syndrome ?,"Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.",GARD,Hardikar syndrome +What are the symptoms of Hardikar syndrome ?,"What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the cardiovascular system 90% Abnormality of the ureter 90% Cleft palate 90% Extrahepatic biliary duct atresia 90% Non-midline cleft lip 90% Chorioretinal degeneration 5% Blepharophimosis - Cholangitis - Cleft upper lip - Coarctation of aorta - Congenital onset - Elevated hepatic transaminases - Failure to thrive - Growth delay - Hepatomegaly - Hydronephrosis - Hydroureter - Hyperbilirubinemia - Intestinal malrotation - Jaundice - Patent ductus arteriosus - Patent foramen ovale - Pigmentary retinopathy - Portal hypertension - Pruritus - Pulmonary artery stenosis - Recurrent urinary tract infections - Splenomegaly - Sporadic - Ureteral stenosis - Vaginal atresia - Ventricular septal defect - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hardikar syndrome +What are the symptoms of Graham Boyle Troxell syndrome ?,"What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 90% Multicystic kidney dysplasia 90% Pulmonary fibrosis 90% Recurrent respiratory infections 50% Respiratory insufficiency 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Graham Boyle Troxell syndrome +What is (are) Alzheimer disease ?,"Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page.",GARD,Alzheimer disease +What is (are) X-linked visceral heterotaxy 1 ?,"X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.",GARD,X-linked visceral heterotaxy 1 +What are the symptoms of X-linked visceral heterotaxy 1 ?,"What are the signs and symptoms of X-linked visceral heterotaxy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked visceral heterotaxy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal situs inversus - Asplenia - Dextrocardia - Patent ductus arteriosus - Polysplenia - Pulmonic stenosis - Ventricular septal defect - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked visceral heterotaxy 1 +What is (are) Split hand foot malformation ?,"Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.",GARD,Split hand foot malformation +What are the symptoms of Split hand foot malformation ?,"What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the pinna 35% Hearing impairment 35% Cleft palate 33% Intellectual disability 33% Oligodactyly (feet) 33% Oligodactyly (hands) 33% Syndactyly 33% Abnormality of cardiovascular system morphology 13% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the tongue 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the phalanges of the hand - Aplasia/Hypoplasia of the phalanges of the toes - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad hallux - Camptodactyly - Clinodactyly - Ectrodactyly - Finger syndactyly - High palate - Incomplete penetrance - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Short metacarpal - Short phalanx of finger - Split foot - Split hand - Toe syndactyly - Triphalangeal thumb - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Split hand foot malformation +What causes Split hand foot malformation ?,"What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance. In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring. In conditions with reduced penetrance a person who inherits the underlying genetic defect, may never develop the condition. More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications).",GARD,Split hand foot malformation +What is (are) AL amyloidosis ?,"AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.",GARD,AL amyloidosis +What is (are) GRACILE syndrome ?,"GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). They will also have problems with the flow of bile from the liver (cholestasis) and too much iron in their blood. Affected individuals arent typically born with unique physical features. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy.",GARD,GRACILE syndrome +What are the symptoms of GRACILE syndrome ?,"What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of iron homeostasis 90% Abnormality of the renal tubule 90% Aminoaciduria 90% Cirrhosis 90% Hearing impairment 90% Hepatic steatosis 90% Abnormality of hair texture 50% Aminoaciduria 20/20 Cholestasis 19/20 Neonatal hypotonia 3/20 Chronic lactic acidosis - Increased serum ferritin - Increased serum iron - Increased serum pyruvate - Intrauterine growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GRACILE syndrome +What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ?,"What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Incoordination 90% Myopathy 90% Type II diabetes mellitus 90% Ataxia - Autosomal dominant inheritance - Diabetes mellitus - Rod-cone dystrophy - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus +What is (are) Mucolipidosis type 4 ?,"Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Mucolipidosis type 4 +What are the symptoms of Mucolipidosis type 4 ?,"What are the signs and symptoms of Mucolipidosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Gait disturbance 90% Hyperreflexia 90% Neurological speech impairment 90% Opacification of the corneal stroma 90% Photophobia 90% Retinopathy 90% Strabismus 90% EEG abnormality 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Abnormal electroretinogram 7.5% Abnormal nasal morphology 7.5% Abnormality of retinal pigmentation 7.5% Coarse facial features 7.5% Genu recurvatum 7.5% Microcephaly 7.5% Microdontia 7.5% Narrow forehead 7.5% Palmoplantar keratoderma 7.5% Abnormality of ganglioside metabolism - Abnormality of mucopolysaccharide metabolism - Abnormality of the abdomen - Absent speech - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Cerebral dysmyelination - Decreased light- and dark-adapted electroretinogram amplitude - Developmental stagnation - Dysplastic corpus callosum - Dystonia - Infantile onset - Intellectual disability - Optic atrophy - Progressive retinal degeneration - Spastic tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucolipidosis type 4 +What are the symptoms of Spinocerebellar ataxia 12 ?,"What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Action tremor - Anxiety - Autosomal dominant inheritance - Axial dystonia - Cerebellar atrophy - Cerebral cortical atrophy - Delusions - Dementia - Depression - Dysarthria - Dysdiadochokinesis - Dysmetria - Facial myokymia - Head tremor - Hyperreflexia - Parkinsonism - Progressive cerebellar ataxia - Sensorimotor neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 12 +"What are the symptoms of Leigh syndrome, French Canadian type ?","What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Anteverted nares - Ataxia - Autosomal recessive inheritance - CNS demyelination - Delayed speech and language development - Failure to thrive - Gliosis - Highly arched eyebrow - Hirsutism - Hyperglycemia - Hypertelorism - Hypoglycemia - Hypoplasia of midface - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased serum lactate - Infantile onset - Lactic acidosis - Low anterior hairline - Malar flattening - Microvesicular hepatic steatosis - Muscular hypotonia - Peripheral demyelination - Prominent forehead - Strabismus - Tachypnea - Tremor - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Leigh syndrome, French Canadian type" +What is (are) Triple A syndrome ?,"Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.",GARD,Triple A syndrome +What are the symptoms of Triple A syndrome ?,"What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is alacrima. Most people with triple A syndrome have all three of these features, although some have only two. Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). People with this condition may have other neurological abnormalities such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time. Adults may exhibit progressive neural degenearation, parkinsonism features and cognitive impairment. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. Individuals typically develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Triple A syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized hyperpigmentation 90% Primary adrenal insufficiency 90% Seizures 90% Palmoplantar keratoderma 50% Short stature 50% Visual impairment 50% Anterior hypopituitarism 7.5% Developmental regression 7.5% Hyperreflexia 7.5% Incoordination 7.5% Iris coloboma 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Abnormality of visual evoked potentials - Achalasia - Adrenocorticotropin (ACTH) receptor (ACTHR) defect - Anisocoria - Ataxia - Autosomal recessive inheritance - Babinski sign - Childhood onset - Dysarthria - Dysautonomia - Hyperpigmentation of the skin - Hypocortisolemia - Intellectual disability - Motor axonal neuropathy - Muscle weakness - Orthostatic hypotension - Palmoplantar hyperkeratosis - Progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Triple A syndrome +What causes Triple A syndrome ?,"What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus of the cell. Mutations in the AAAS gene prevent this protein from reaching its proper location in the cell, which may disrupt the movement of molecules. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene; in these individuals, the genetic cause of the disorder is unknown.",GARD,Triple A syndrome +Is Triple A syndrome inherited ?,"How is triple A syndrome inherited? Triple A syndrome is inherited in an autosomal recessive pattern,which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as ""carriers"" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition.",GARD,Triple A syndrome +What are the treatments for Triple A syndrome ?,"How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacement of glucocorticoids. This may be important for avoiding an adrenal crisis and allowing for normal growth in children. In adult individuals, as well as those who have difficulty with compliance, replacing hydrocortisone with prednisone or dexamethasone is sometimes recommended. It is usually recommended that affected individuals wear a medical alert bracelet or necklace and carry the emergency medical information card supplied with it. Achalasia is typically managed with surgical correction. Individuals may be monitored for pulmonary complications (due to reflux and aspiration). Gastric acid reduction therapy in individuals with reflux after surgical intervention is usually recommended. The symptoms in individuals with achalasia may be improved partially with pneumatic dilatation (also called balloon dilation). For those who remain symptomatic after this, other surgeries may be recommended. Alacrima is typically managed by applying topical lubricants (such as artificial tears or ointments), and with punctal occlusion (a procedure used to close the tear ducts that drain tears from the eye). The symptoms of alacrima typically improve with punctal occlusion. However, this procedure is usually only done when therapy with topical lubricants is unsuccessful.",GARD,Triple A syndrome +What is (are) Spondylocarpotarsal synostosis syndrome ?,"Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts. However, these eye problems are usually not severe enough to impair vision. This condition is caused by mutations in the FLNB gene. It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent.",GARD,Spondylocarpotarsal synostosis syndrome +What are the symptoms of Spondylocarpotarsal synostosis syndrome ?,"What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Hyperlordosis 90% Limitation of joint mobility 90% Short thorax 90% Synostosis of carpal bones 90% Vertebral segmentation defect 90% Cleft palate 7.5% Conductive hearing impairment 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Block vertebrae - Broad face - Broad nasal tip - C2-C3 subluxation - Carpal synostosis - Cataract - Clinodactyly of the 5th finger - Delayed skeletal maturation - Disproportionate short-trunk short stature - Epiphyseal dysplasia - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the odontoid process - Mixed hearing impairment - Pes planus - Preauricular skin tag - Rarefaction of retinal pigmentation - Renal cyst - Restrictive lung disease - Scoliosis - Short neck - Short nose - Tarsal synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylocarpotarsal synostosis syndrome +What is (are) Stenotrophomonas maltophilia infection ?,"Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). S. maltophilia bacteria are resistant to many types of antibiotics; however, most strains can be treated with trimethoprim-sulfamethoxazole treatment.",GARD,Stenotrophomonas maltophilia infection +What are the symptoms of Stenotrophomonas maltophilia infection ?,"What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. maltophilia) infections are generally related to the organ system(s) involved. The most common manifestations are pneumonia and bacteremia. Less commonly, people infected by S. maltophilia may experience endocarditis, mastoiditis, peritonitis, meningitis, soft tissue infections, wound infections, urinary tract infections, and/or eye infections.",GARD,Stenotrophomonas maltophilia infection +What causes Stenotrophomonas maltophilia infection ?,"What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions, urine, and intravenous (IV) fluids. Most healthy people do not get S. maltophilia infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria).",GARD,Stenotrophomonas maltophilia infection +How to diagnose Stenotrophomonas maltophilia infection ?,"How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria.",GARD,Stenotrophomonas maltophilia infection +What are the treatments for Stenotrophomonas maltophilia infection ?,"How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibiotics may be considered. Combination therapy may be necessary in life-threatening cases. The duration of therapy largely depends on the site of infection. More detailed information about medications used to treat S. maltophilia infection is available in Medscape Reference and can be viewed by clicking here. This information is intended for informational purposes only. People seeking treatment for S. maltophilia infection should consult with their health care provider.",GARD,Stenotrophomonas maltophilia infection +What is (are) Familial mixed cryoglobulinemia ?,"Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a ""gel-like"" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. The associated signs and symptoms vary from person to person depending on which parts of the body or organ systems are affected; however, common features include purpura, joint pain, breathing problems, muscle pain, fatigue, glomerulonephritis, Raynaud's phenomenon, and skin abnormalities. The underlying genetic cause of familial mixed cryoglobulinemia is currently unknown. Although there are only a few reported families with this condition, it appears to be inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. In severe cases, medications that suppress the immune system may be necessary.",GARD,Familial mixed cryoglobulinemia +What are the symptoms of Familial mixed cryoglobulinemia ?,"What are the signs and symptoms of Familial mixed cryoglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial mixed cryoglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Acrocyanosis 90% Mediastinal lymphadenopathy 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Vasculitis 90% Abdominal pain 50% Arthralgia 50% Arthritis 50% Gangrene 50% Gastrointestinal infarctions 50% Glomerulopathy 50% Hematuria 50% Hepatic failure 50% Hepatomegaly 50% Myalgia 50% Polyneuropathy 50% Proteinuria 50% Renal insufficiency 50% Splenomegaly 50% Gastrointestinal hemorrhage 7.5% Keratoconjunctivitis sicca 7.5% Abnormality of blood and blood-forming tissues - Anasarca - Autosomal dominant inheritance - Chronic kidney disease - Cryoglobulinemia - Elevated serum creatinine - Hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial mixed cryoglobulinemia +What are the symptoms of Transient bullous dermolysis of the newborn ?,"What are the signs and symptoms of Transient bullous dermolysis of the newborn? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Cheilitis 50% Hypopigmented skin patches 50% Thin skin 50% Abnormality of metabolism/homeostasis - Atrophic scars - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Fragile skin - Milia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Transient bullous dermolysis of the newborn +What are the symptoms of Ulnar-mammary syndrome ?,"What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Hypohidrosis 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the nipples 50% Cryptorchidism 50% Decreased fertility 50% Hypoplasia of penis 50% Obesity 50% Short stature 50% Abnormality of the humerus 7.5% Abnormality of the metacarpal bones 7.5% Absent hand 7.5% Aplasia of the pectoralis major muscle 7.5% Arrhythmia 7.5% Breast aplasia 7.5% Camptodactyly of finger 7.5% Ectopic anus 7.5% Hernia of the abdominal wall 7.5% Hypoplastic toenails 7.5% Laryngomalacia 7.5% Pectus carinatum 7.5% Postaxial hand polydactyly 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Sprengel anomaly 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Absent radius - Absent ulna - Anal atresia - Anal stenosis - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Axillary apocrine gland hypoplasia - Breast hypoplasia - Deformed radius - Delayed puberty - Ectopic posterior pituitary - Hypodontia - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic nipples - Hypoplastic scapulae - Imperforate hymen - Inguinal hernia - Inverted nipples - Micropenis - Shawl scrotum - Short 4th toe - Short 5th toe - Short clavicles - Short humerus - Sparse axillary hair - Sparse lateral eyebrow - Subglottic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ulnar-mammary syndrome +What is (are) Asperger syndrome ?,"Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an obsessive interest in a particular object or topic; high vocabulary; formal speech patterns; repetitive routines or habits; inappropriate social and emotional behavior; impaired non-verbal communication; and uncoordinated motor skills. AS is likely caused by a combination of genetic and environmental influences. While autism spectrum disorders including AS sometimes run in families, no specific inheritance pattern has been recognized.",GARD,Asperger syndrome +Is Asperger syndrome inherited ?,"Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes ""run in families,"" but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members.",GARD,Asperger syndrome +What is (are) Ovarian carcinosarcoma ?,"Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years. Symptoms may include pain in the abdomen or pelvic area, bloating or swelling of the abdomen, quickly feeling full when eating or other digestive issues. The cause of ovarian carcinosarcoma is currently unknown. Treatment usually consists of surgery (sometimes called debulking) and chemotherapy.",GARD,Ovarian carcinosarcoma +What causes Ovarian carcinosarcoma ?,"Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman.",GARD,Ovarian carcinosarcoma +What are the treatments for Ovarian carcinosarcoma ?,"How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines. Treatment decisions are based on the unique features of each individual's diagnosis. The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to improve cancer care, recommends that women with ovarian carcinosarcoma be treated similarly to women with ovarian carcinoma (also called epithelial ovarian cancer), which is the most common type of ovarian cancer. Currently, treatment for ovarian carcinosarcoma usually begins with surgery to remove as much of the cancer as possible. Chemotherapy may be used to destroy any cancer cells that could be in the body after surgery. Medications that contain platinum (such as the drug cisplatin) seem to be the most effective chemotherapies for ovarian carcinosarcoma. Recent evidence suggests that another medication called ifosfamide may increase the effectiveness of treatment when used in combination with platinum-based medications.",GARD,Ovarian carcinosarcoma +What is (are) Chromosome 1p deletion ?,"Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 1p deletion +What are the symptoms of Groenouw type I corneal dystrophy ?,"What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Granular corneal dystrophy - Nodular corneal dystrophy - Punctate corneal dystrophy - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Groenouw type I corneal dystrophy +What are the symptoms of Simosa cranio facial syndrome ?,"What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Abnormality of the antitragus 90% Abnormality of the palate 90% Abnormality of the tragus 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Blepharophimosis 90% Broad forehead 90% Chin dimple 90% Downturned corners of mouth 90% High forehead 90% Highly arched eyebrow 90% Hypoplasia of the zygomatic bone 90% Long face 90% Long philtrum 90% Macrotia 90% Malar flattening 90% Narrow mouth 90% Telecanthus 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Cryptorchidism 50% Hernia of the abdominal wall 50% Low-set, posteriorly rotated ears 50% Scoliosis 50% Scrotal hypoplasia 50% Camptodactyly of finger 7.5% Abnormality of the pinna 2/2 Abnormality of the skin 2/2 Blepharophimosis 2/2 Broad forehead 2/2 Depressed nasal tip 2/2 High, narrow palate 2/2 Highly arched eyebrow 2/2 Inguinal hernia 2/2 Long face 2/2 Long nose 2/2 Long philtrum 2/2 Low-set ears 2/2 Malar flattening 2/2 Narrow mouth 2/2 Nasal speech 2/2 Posteriorly rotated ears 2/2 Sparse eyebrow 2/2 Telecanthus 2/2 Underdeveloped nasal alae 2/2 Wide nasal bridge 2/2 Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Simosa cranio facial syndrome +What are the symptoms of Gastric lymphoma ?,"What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastric lymphoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gastric lymphoma +"What are the symptoms of Macular dystrophy, concentric annular ?","What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dyschromatopsia - Foveal hyperpigmentation - Macular dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Macular dystrophy, concentric annular" +What are the symptoms of Telfer Sugar Jaeger syndrome ?,"What are the signs and symptoms of Telfer Sugar Jaeger syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Hypopigmentation of hair 90% Hypopigmented skin patches 90% Poikiloderma 90% Abnormality of the eyebrow 50% Cognitive impairment 50% Hypermelanotic macule 50% Incoordination 50% Sensorineural hearing impairment 50% Aganglionic megacolon 7.5% Heterochromia iridis 7.5% Neoplasm of the skin 7.5% Absent pigmentation of the ventral chest - Ataxia - Autosomal dominant inheritance - Hearing impairment - Intellectual disability - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Telfer Sugar Jaeger syndrome +What is (are) Spastic diplegia cerebral palsy ?,"Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected or not affected at all. Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a ""scissored"" gait (style of walking). It occurs when the portion of the brain that controls movement is damaged or develops abnormally. The exact underlying cause is often unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; and/or injury before, during or shortly after birth. There is no cure, and treatment options vary depending on the signs and symptoms present in each person and the severity of the condition.",GARD,Spastic diplegia cerebral palsy +What are the symptoms of Spastic diplegia cerebral palsy ?,"What are the signs and symptoms of spastic diplegia cerebral palsy? The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to stiff or tight muscles and exaggerated reflexes (spasticity). Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a ""scissored"" gait (style of walking). Although symptoms may change as a person gets older, the condition does not get worse over time (progress). Cerebral palsy, including spastic diplegia cerebral palsy, can be associated with a variety of other health problems, including: Intellectual disability Learning disabilities Seizures Delayed growth Spinal abnormalities Osteoarthritis Impaired vision Hearing loss Speech and language disorders Poor bladder control Contractures",GARD,Spastic diplegia cerebral palsy +What causes Spastic diplegia cerebral palsy ?,"What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact underlying cause is unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; injury before, during or shortly after birth; problems with blood flow to the brain; and severe lack of oxygen to the brain. The following medical conditions or events may increase the risk for a child to be born with or develop cerebral palsy: Premature birth Low birth weight (less than 5 and a half pounds) Mothers with infections or high fevers during pregnancy Multiple births (twins, triplets and other multiples) Rh incompatibility (blood type incompatibility between mother and child) Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures Breech presentation Complicated labor and delivery Low Apgar score Newborn jaundice",GARD,Spastic diplegia cerebral palsy +Is Spastic diplegia cerebral palsy inherited ?,"Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors.",GARD,Spastic diplegia cerebral palsy +How to diagnose Spastic diplegia cerebral palsy ?,"How is spastic diplegia cerebral palsy diagnosed? A diagnosis of spastic diplegia cerebral palsy is based on the presence of characteristic signs and symptoms. However, the following tests may be recommended to rule out other conditions that cause similar features. Blood tests CT scan of the head MRI scan of the head Electroencephalogram (EEG) Electromyography For more information about the diagnosis of spastic diplegia cerebral palsy and other types of cerebral palsy, please click here.",GARD,Spastic diplegia cerebral palsy +What are the treatments for Spastic diplegia cerebral palsy ?,"How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful. For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please click here.",GARD,Spastic diplegia cerebral palsy +What are the symptoms of Ameloonychohypohidrotic syndrome ?,"What are the signs and symptoms of Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of the fingernails 90% Hyperkeratosis 90% Hypohidrosis 90% Hypoplastic toenails 90% Onycholysis 90% Abnormality of dental morphology 50% Advanced eruption of teeth 50% Delayed eruption of teeth 50% Dry skin 50% Fine hair 50% Reduced number of teeth 50% Abnormality of the hair - Autosomal dominant inheritance - Marked delay in eruption of permanent teeth - Seborrheic dermatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ameloonychohypohidrotic syndrome +What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy ?,"What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal motor neuron morphology - Abnormality of saccadic eye movements - Abnormality of thalamus morphology - Azoospermia - Head tremor - Hypergonadotropic hypogonadism - Hyposmia - Intention tremor - Leukoencephalopathy - Peripheral neuropathy - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leukoencephalopathy - dystonia - motor neuropathy +What is (are) Epidermolysis bullosa ?,"Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.",GARD,Epidermolysis bullosa +Is Epidermolysis bullosa inherited ?,"How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal dominant, except for a few rare autosomal recessive subtypes. Dystrophic epidermolysis bullosa (DEB) can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype present. However, dominant DEB is the second most common major type of EB. Junctional epidermolysis bullosa is autosomal recessive, although one article stated that an autosomal dominant form has recently been reported. Kindler syndrome is only inherited in an autosomal recessive manner. A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. Many people with an autosomal dominant form of EB have an affected parent, but in some cases a mutation in the responsible gene occurs for the first time in a person with no family history of EB (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to be affected. Typically, an affected person inherits one changed (mutated) copy of the responsible gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to not be a carrier and not be affected. Epidermolysis bullosa acquisita (acquired EB) is a rare autoimmune disorder and is not inherited.",GARD,Epidermolysis bullosa +What are the treatments for Epidermolysis bullosa ?,"How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recommend antibiotic ointments and soaks. However, even in the presence of good care, it is possible for infection to develop. Signs of infection are redness and heat around an open area of skin, pus or a yellow drainage, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills. A doctor may prescribe a specific soaking solution, an antibiotic ointment, or an oral antibiotic to reduce the growth of bacteria. Wounds that are not healing may be treated by a special wound covering or biologically developed skin. More details about treatment, wound care and infection control can be obtained from the eMedicine and DEBRA web sites.",GARD,Epidermolysis bullosa +What are the symptoms of Brooks Wisniewski Brown syndrome ?,"What are the signs and symptoms of Brooks Wisniewski Brown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooks Wisniewski Brown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 5% Agenesis of corpus callosum - Blepharophimosis - Bulbous nose - Cerebral atrophy - Cupped ear - Decreased muscle mass - Deeply set eye - Delayed speech and language development - Depressed nasal bridge - EEG abnormality - Epicanthus inversus - Esotropia - Flexion contracture - Hyperactivity - Hyperreflexia - Increased serum lactate - Intellectual disability, progressive - Intellectual disability, severe - Low posterior hairline - Low-set ears - Microcephaly - Myopia - Narrow mouth - Nystagmus - Optic atrophy - Pectus excavatum - Poor coordination - Posteriorly rotated ears - Protruding ear - Seizures - Severe postnatal growth retardation - Short palpebral fissure - Short stature - Small for gestational age - Spastic diplegia - Tapered finger - Triangular face - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brooks Wisniewski Brown syndrome +"What is (are) Usher syndrome, type 1C ?","Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.",GARD,"Usher syndrome, type 1C" +"What are the symptoms of Usher syndrome, type 1C ?","What are the signs and symptoms of Usher syndrome, type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular hypofunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Usher syndrome, type 1C" +"Is Usher syndrome, type 1C inherited ?","How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.",GARD,"Usher syndrome, type 1C" +What are the symptoms of Herrmann syndrome ?,"What are the signs and symptoms of Herrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Herrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astrocytosis - Ataxia - Autosomal dominant inheritance - Cochlear degeneration - Confusion - Depression - Diabetes mellitus - Focal motor seizures - Horizontal nystagmus - Nephropathy - Personality changes - Photomyoclonic seizures - Progressive sensorineural hearing impairment - Slowed slurred speech - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Herrmann syndrome +What is (are) Nodular nonsuppurative panniculitis ?,"Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health (malaise), muscle pain, and/or abdominal pain. These symptoms may subside after a few days or weeks and may recur weeks, months, or years later. The exact cause of nodular nonsuppurative panniculitis is unknown.",GARD,Nodular nonsuppurative panniculitis +What are the symptoms of Nodular nonsuppurative panniculitis ?,"What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of temperature regulation 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Cellulitis 90% Edema 90% Myalgia 90% Nausea and vomiting 90% Weight loss 90% Autoimmunity 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nodular nonsuppurative panniculitis +What are the treatments for Nodular nonsuppurative panniculitis ?,"How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another underlying disorder. If there is an underlying disorder, treatment of this disorder may relieve the symptoms of NNP. In some cases, skin lesions heal spontaneously (remission) but the lesions often later return. There is no treatment method found to be effective for all individuals with NNP. Medications used to treat the condition may include systemic steroids (such as prednisone) to suppress sudden attacks; nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce fever and other signs of malaise; and/or immunosuppressive drugs. Relief of symptoms in some affected individuals has also been reported with fibrinolytic agents (medications that help prevent blood clots), hydroxychloroquine, azathioprine, thalidomide, cyclophosphamide, tetracycline, cyclosporin, mycophenolate, and clofazimine. More detailed information about the management of nodular nonsuppurative panniculitis is available on the Treatment and Medication sections of the Medscape Reference Web site.",GARD,Nodular nonsuppurative panniculitis +What is (are) Dentinogenesis imperfecta type 2 ?,"Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.",GARD,Dentinogenesis imperfecta type 2 +"What are the symptoms of Heart-hand syndrome, Spanish type ?","What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Short toe 50% Abnormality of the cardiovascular system - Autosomal dominant inheritance - Short middle phalanx of finger - Sick sinus syndrome - Ulnar deviation of the 2nd finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Heart-hand syndrome, Spanish type" +What are the symptoms of Galactose epimerase deficiency ?,"What are the signs and symptoms of Galactose epimerase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Galactose epimerase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cataract 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hepatomegaly 90% Muscular hypotonia 90% Nausea and vomiting 90% Splenomegaly 90% Weight loss 90% Autosomal recessive inheritance - Delayed gross motor development - Delayed speech and language development - Failure to thrive - Galactosuria - Hypergalactosemia - Intellectual disability - Jaundice - Sensorineural hearing impairment - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Galactose epimerase deficiency +What is (are) Granulomatous Amebic Encephalitis ?,"Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.",GARD,Granulomatous Amebic Encephalitis +What is (are) Mitochondrial neurogastrointestinal encephalopathy syndrome ?,"Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern.",GARD,Mitochondrial neurogastrointestinal encephalopathy syndrome +What are the symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome ?,"What are the signs and symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial neurogastrointestinal encephalopathy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Areflexia - Autosomal recessive inheritance - Cachexia - Constipation - Death in early adulthood - Decreased activity of cytochrome C oxidase in muscle tissue - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Gastrointestinal dysmotility - Gastroparesis - Hypointensity of cerebral white matter on MRI - Intermittent diarrhea - Lactic acidosis - Leukoencephalopathy - Malabsorption - Malnutrition - Mitochondrial myopathy - Multiple mitochondrial DNA deletions - Progressive - Progressive external ophthalmoplegia - Ptosis - Ragged-red muscle fibers - Sensorineural hearing impairment - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mitochondrial neurogastrointestinal encephalopathy syndrome +How to diagnose Mitochondrial neurogastrointestinal encephalopathy syndrome ?,"How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following: A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L). This is sufficient to make the diagnosis of MNGIE disease. Thymidine phosphorylase enzyme activity in leukocytes (white blood cells) less than 10% of the control mean. Genetic testing of TYMP, the gene for thymidine phosphorylase (the enzyme deficient in individuals with MNGIE syndrome), detects mutations in approximately all of affected individuals.",GARD,Mitochondrial neurogastrointestinal encephalopathy syndrome +What are the treatments for Mitochondrial neurogastrointestinal encephalopathy syndrome ?,"How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011.",GARD,Mitochondrial neurogastrointestinal encephalopathy syndrome +"What are the symptoms of Larynx, congenital partial atresia of ?","What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Laryngomalacia 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Short stature 50% Autosomal dominant inheritance - Laryngeal obstruction - Laryngeal web - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Larynx, congenital partial atresia of" +"What are the symptoms of Gonadal dysgenesis, XX type ?","What are the signs and symptoms of Gonadal dysgenesis, XX type? The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Polycystic ovaries 90% Primary amenorrhea 90% Sensorineural hearing impairment 90% Cerebral cortical atrophy 50% Short stature 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cognitive impairment 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Nystagmus 7.5% Oculomotor apraxia 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Ptosis 7.5% Scoliosis 7.5% Secondary amenorrhea 7.5% Areflexia 5% Cerebellar atrophy 5% Dysarthria 5% Hyporeflexia 5% Motor delay 5% Sensorimotor neuropathy 5% Spastic diplegia 5% Autosomal recessive inheritance - Gait ataxia - Gonadal dysgenesis - High palate - Increased circulating gonadotropin level - Limited extraocular movements - Osteoporosis - Pes cavus - Phenotypic variability - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Gonadal dysgenesis, XX type" +What are the symptoms of Pulmonary edema of mountaineers ?,"What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Elevated pulmonary artery pressure - Pulmonary edema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonary edema of mountaineers +"What are the symptoms of Synostoses, tarsal, carpal, and digital ?","What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Carpal synostosis - Metacarpophalangeal synostosis - Radial head subluxation - Short metacarpal - Tarsal synostosis - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Synostoses, tarsal, carpal, and digital" +What is (are) Hereditary fructose intolerance ?,"Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.",GARD,Hereditary fructose intolerance +What are the symptoms of Hereditary fructose intolerance ?,"What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary fructose intolerance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Autosomal recessive inheritance - Bicarbonaturia - Cirrhosis - Coma - Elevated hepatic transaminases - Failure to thrive - Fructose intolerance - Gastrointestinal hemorrhage - Glycosuria - Hepatic steatosis - Hepatomegaly - Hyperbilirubinemia - Hyperphosphaturia - Hyperuricemia - Hyperuricosuria - Hypoglycemia - Hypophosphatemia - Intellectual disability - Jaundice - Lactic acidosis - Lethargy - Malnutrition - Metabolic acidosis - Nausea - Proximal renal tubular acidosis - Proximal tubulopathy - Seizures - Transient aminoaciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary fructose intolerance +What causes Hereditary fructose intolerance ?,"What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time.",GARD,Hereditary fructose intolerance +Is Hereditary fructose intolerance inherited ?,"How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition.",GARD,Hereditary fructose intolerance +What are the treatments for Hereditary fructose intolerance ?,"How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat. http://www.bu.edu/aldolase/HFI/treatment/ Additional information on foods to avoid if you have HFI is available from the Mayo clinic. http://www.mayoclinic.com/health/fructose-intolerance/AN01574",GARD,Hereditary fructose intolerance +What is (are) Congenital anosmia ?,"Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain). Scientists suspect that isolated congenital anosmia occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Unfortunately, there is currently no known cure or treatment for congenital anosmia.",GARD,Congenital anosmia +What are the symptoms of Congenital anosmia ?,"What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital anosmia +What causes Congenital anosmia ?,"What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.",GARD,Congenital anosmia +Is Congenital anosmia inherited ?,"Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.",GARD,Congenital anosmia +How to diagnose Congenital anosmia ?,"How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain",GARD,Congenital anosmia +What are the treatments for Congenital anosmia ?,"How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia.",GARD,Congenital anosmia +"What are the symptoms of Deafness, dystonia, and cerebral hypomyelination ?","What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Optic atrophy 5% Seizures 5% Abnormal facial shape - Abnormal pyramidal signs - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Dystonia - Failure to thrive - Intellectual disability - Microcephaly - Sensorineural hearing impairment - Strabismus - Tetraplegia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Deafness, dystonia, and cerebral hypomyelination" +What are the symptoms of Johnston Aarons Schelley syndrome ?,"What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Johnston Aarons Schelley syndrome +What is (are) Large granular lymphocyte leukemia ?,"Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.",GARD,Large granular lymphocyte leukemia +What is (are) Autosomal dominant partial epilepsy with auditory features ?,"Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood. ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).",GARD,Autosomal dominant partial epilepsy with auditory features +What are the symptoms of Autosomal dominant partial epilepsy with auditory features ?,"What are the signs and symptoms of Autosomal dominant partial epilepsy with auditory features? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant partial epilepsy with auditory features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Auditory auras - Autosomal dominant inheritance - Bilateral convulsive seizures - Focal seizures with impairment of consciousness or awareness - Focal seizures without impairment of consciousness or awareness - Incomplete penetrance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant partial epilepsy with auditory features +What are the symptoms of Marfanoid hypermobility syndrome ?,"What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Anterior segment dysgenesis - Aortic regurgitation - Arachnodactyly - Dissecting aortic aneurysm - Ectopia lentis - Growth abnormality - High palate - Joint hypermobility - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marfanoid hypermobility syndrome +What is (are) Sudden sensorineural hearing loss ?,"Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorineural deafness often become dizzy, have ringing in their ears (tinnitus), or both (40% of the cases). The condition has a variety of causes, including infection, inflammation, tumors, trauma, exposure to toxins and conditions that affect the inner ear such as Mnire's disease. About half of people with sudden sensorineural deafness will recover some or all of their hearing spontaneously and about 85% of those who receive treatment will recover some of their hearing.",GARD,Sudden sensorineural hearing loss +What is (are) Osteogenesis imperfecta type I ?,"Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.",GARD,Osteogenesis imperfecta type I +What are the symptoms of Osteogenesis imperfecta type I ?,"What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type I +What is (are) Guanidinoacetate methyltransferase deficiency ?,"Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.",GARD,Guanidinoacetate methyltransferase deficiency +What are the symptoms of Guanidinoacetate methyltransferase deficiency ?,"What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Delayed speech and language development - Hyperreflexia - Hypertonia - Infantile muscular hypotonia - Intellectual disability - Myoclonus - Progressive extrapyramidal movement disorder - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Guanidinoacetate methyltransferase deficiency +What is (are) Best vitelliform macular dystrophy ?,"Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.",GARD,Best vitelliform macular dystrophy +What are the symptoms of Best vitelliform macular dystrophy ?,"What are the signs and symptoms of Best vitelliform macular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Best vitelliform macular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Visual impairment 90% Abnormality of color vision 50% Choroideremia 7.5% Visual field defect 7.5% Abnormal electroretinogram - Autosomal dominant inheritance - Cystoid macular degeneration - Macular dystrophy - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Best vitelliform macular dystrophy +What causes Best vitelliform macular dystrophy ?,"What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.",GARD,Best vitelliform macular dystrophy +Is Best vitelliform macular dystrophy inherited ?,"How is Best vitelliform macular dystrophy inherited? Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported. In autosomal dominant inheritance, having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Most people with BVMD have an affected parent, but some people have the condition as the result of a new mutation that occurred for the first time. Autosomal recessive inheritance means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Best vitelliform macular dystrophy +How to diagnose Best vitelliform macular dystrophy ?,"How is Best vitelliform macular dystrophy diagnosed? Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion. An EOG is usually abnormal in affected people, but occasionally, people with signs of BVMD and a mutation in the BEST1 gene have a normal EOG. The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance. Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered.",GARD,Best vitelliform macular dystrophy +What are the treatments for Best vitelliform macular dystrophy ?,"How might Best vitelliform macular dystrophy be treated? There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. Low vision aids help affected people with significant loss of visual acuity. Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor) agents such as bevacizumab have shown limited success in treating some of the secondary features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina).",GARD,Best vitelliform macular dystrophy +"What are the symptoms of Rippling muscle disease, 1 ?","What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG abnormality - Exercise-induced muscle cramps - Exercise-induced muscle stiffness - Exercise-induced myalgia - Muscle hyperirritability - Muscle mounding - Percussion-induced rapid rolling muscle contractions (PIRC) - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Rippling muscle disease, 1" +What is (are) Proximal symphalangism ?,"Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene.",GARD,Proximal symphalangism +What are the symptoms of Proximal symphalangism ?,"What are the signs and symptoms of Proximal symphalangism? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal symphalangism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Proximal symphalangism (hands) 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Carpal synostosis 75% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Conductive hearing impairment 50% Elbow dislocation 50% Humeroradial synostosis 50% Sensorineural hearing impairment 50% Stapes ankylosis 50% Aplasia/Hypoplasia of the middle phalanges of the hand 7.5% Aplasia/Hypoplasia of the middle phalanges of the toes 7.5% Clinodactyly of the 5th finger 7.5% Finger syndactyly 7.5% Strabismus 7.5% Distal symphalangism (hands) 5% Metacarpophalangeal synostosis 1% Abnormal finger flexion creases - Autosomal dominant inheritance - Pes planus - Proximal/middle symphalangism of 5th finger - Short 5th metacarpal - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Proximal symphalangism +How to diagnose Proximal symphalangism ?,"Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Proximal symphalangism +"What are the symptoms of Muscular dystrophy, congenital, megaconial type ?","What are the signs and symptoms of Muscular dystrophy, congenital, megaconial type? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, megaconial type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Delayed speech and language development - Elevated serum creatine phosphokinase - Facial palsy - Gowers sign - Ichthyosis - Intellectual disability - Microcephaly - Mitochondrial inheritance - Motor delay - Myopathy - Neonatal hypotonia - Poor speech - Seizures - Slow progression - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Muscular dystrophy, congenital, megaconial type" +"What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ?","What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hydrocephalus 90% Mandibular prognathia 90% Sprengel anomaly 90% Abnormal form of the vertebral bodies 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anteverted nares 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Cognitive impairment 50% Depressed nasal bridge 50% High forehead 50% Hypertelorism 50% Hypoplasia of the zygomatic bone 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Melanocytic nevus 50% Obesity 50% Sandal gap 50% Scoliosis 50% Vertebral segmentation defect 50% Abnormality of the nipple 7.5% Myopia 7.5% Strabismus 7.5% Arachnoid cyst 5% Bulbous nose 5% Delayed gross motor development 5% Epicanthus 5% Hypoplasia of dental enamel 5% Intellectual disability 5% Low-set ears 5% Malar flattening 5% Wide nasal bridge 5% High palate - Kyphoscoliosis - Psychosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" +What is (are) Duane syndrome type 1 ?,"Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome).",GARD,Duane syndrome type 1 +What are the symptoms of Duane syndrome type 1 ?,"What are the signs and symptoms of Duane syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Congenital strabismus - Duane anomaly - Impaired convergence - Impaired ocular abduction - Impaired ocular adduction - Palpebral fissure narrowing on adduction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duane syndrome type 1 +What are the treatments for Duane syndrome type 1 ?,"How might Duane syndrome type 1 be treated? Management of Duane syndrome is mainly supportive. It may involve treatment of amblyopia (""lazy eye""); wearing glasses or contact lenses; the use of prisms to correct for abnormal head posture; or possible eye muscle surgery. The majority of people with Duane syndrome do not need surgery. However, surgery may be indicated if necessary to reduce severe misalignment of the eyes (strabismus); improve an unacceptable head position; treat a significant upshoot or downshoot; or fix displacement of the eyeball within the orbit (enophthalmos). Unfortunately, surgery does not restore function to the affected nerve and muscle, and no surgical technique has been completely successful in eliminating the abnormal eye movements. Surgery for Duane syndrome usually involves adjusting the other eye muscles to compensate and allow for better eye alignment. While it cannot fix the underlying problem, it can substantially improve signs or symptoms. Some surgical procedures or combinations of procedures may be successful in improving or eliminating head turns and strabismus.",GARD,Duane syndrome type 1 +What are the symptoms of Retinal cone dystrophy 4 ?,"What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinal cone dystrophy 4 +"What are the symptoms of Myasthenia gravis, limb-girdle ?","What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Hashimoto thyroiditis - Mildly elevated creatine phosphokinase - Neoplasm - Ophthalmoparesis - Proximal amyotrophy - Ptosis - Sporadic - Thymoma - Type 2 muscle fiber atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Myasthenia gravis, limb-girdle" +What is (are) Pyomyositis ?,"Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the bacterium, Staphylococcus aureus. Risk factors for the condition include strenuous activity, muscle trauma, skin infections, infected insect bites, illicit drug injections, connective tissue disorders, and diabetes. Treatment generally includes surgical drainage of the abscess and antibiotics.",GARD,Pyomyositis +What are the symptoms of Pyomyositis ?,"What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Myalgia 90% Myositis 90% Recurrent cutaneous abscess formation 90% Leukocytosis 50% Weight loss 50% Renal insufficiency 7.5% Sepsis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyomyositis +"What are the symptoms of Vestibulocochlear dysfunction, progressive ?","What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Sensorineural hearing impairment 90% Abnormality of the nervous system - Autosomal dominant inheritance - Progressive hearing impairment - Tinnitus - Vestibular areflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Vestibulocochlear dysfunction, progressive" +What is (are) Baylisascaris infection ?,"Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans. Humans can acquire the parasite by ingesting the eggs of infected raccoons. Young children are at greatest risk for Baylisascaris infection because they are more likely to put contaminated soil in their mouths. Though rare, human infections can be severe if the parasite invades the eye (ocular larva migrans), organs (visceral larva migrans), or the brain (neural larva migrans). Symptoms of a Baylisascaris infection may include nausea, fatigue, an enlarged liver, loss of coordination, lack of muscle control, blindness, and coma. Baylisascaris infections cannot be spread from one person to another. No drug has been found to be completely effective against Baylisascaris infections in humans though albendazole has been used in some cases.",GARD,Baylisascaris infection +What are the treatments for Baylisascaris infection ?,"How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagnosis and treatment provide the best chance of recovery.",GARD,Baylisascaris infection +What are the symptoms of Lubinsky syndrome ?,"What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the testis 90% Cataract 90% Decreased fertility 90% Autosomal recessive inheritance - Elevated follicle stimulating hormone - Hypogonadism - Infertility - Male hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lubinsky syndrome +What are the symptoms of Medulloblastoma ?,"What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Medulloblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Medulloblastoma +What is (are) Anencephaly ?,"Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.",GARD,Anencephaly +What are the symptoms of Anencephaly ?,"What are the signs and symptoms of Anencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly 90% Primary adrenal insufficiency 90% Spina bifida - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anencephaly +What causes Anencephaly ?,"What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which gives the body instructions to make a protein used to process the vitamin folate (also called vitamin B9). A deficiency of folate is a known risk factor for NTDs. Other genes involved in folate processing, and the development of the neural tube, may also affect the risk. Researchers have also looked at environmental factors that could contribute to the risk of anencephaly. Folate appears to play a significant role, and studies have shown that taking folic acid (a form of folate), before getting pregnant and very early in pregnancy, significantly reduces the risk to have a baby with a NTD. Other possible maternal risk factors for anencephaly include diabetes mellitus; obesity; exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy; and the use of certain anti-seizure medications during pregnancy.",GARD,Anencephaly +Is Anencephaly inherited ?,"Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. A small portion of cases have appeared to be familial, but it often does not have a clear inheritance pattern. In isolated populations, anencephaly has been suspected to be due to a single gene. In Iranian Jews, who have high rates of consanguinity (mating with family members), it is inherited in an autosomal recessive manner. Parents who have had a child with anencephaly are at an increased risk to have another affected child (compared with the risk in the general population). Because most cases are believed to be multifactorial (due to interaction of genetic and environmental factors), the recurrence risk is estimated to be between 2% and 5% after a single case. If anencephaly is known to be associated with an underlying disorder, the recurrence risk may depend on that of the underlying disorder. For women who have previously had a fetus or infant with anencephaly, the Centers for Disease Control and Prevention (CDC) recommends increasing the intake of folic acid to 4mg per day beginning at least one month prior to conception. People who have had a pregnancy or child with anencephaly or another NTD, and have questions about future risk, are encouraged to speak with a genetic counselor or other genetics professional.",GARD,Anencephaly +What are the symptoms of Spinocerebellar ataxia 34 ?,"What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 34 +What is (are) Microhydranencephaly ?,"Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Microhydranencephaly +What are the symptoms of Microhydranencephaly ?,"What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). The Human Phenotype Ontology provides the following list of signs and symptoms for Microhydranencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Athetosis - Autosomal recessive inheritance - Cerebellar hypoplasia - Generalized myoclonic seizures - Hydranencephaly - Hyperreflexia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Macrotia - Microcephaly - Multiple joint contractures - Pachygyria - Prominent nasal bridge - Proptosis - Self-mutilation - Short stature - Skeletal muscle atrophy - Sloping forehead - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microhydranencephaly +What causes Microhydranencephaly ?,"What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition.",GARD,Microhydranencephaly +Is Microhydranencephaly inherited ?,"Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,Microhydranencephaly +How to diagnose Microhydranencephaly ?,How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).,GARD,Microhydranencephaly +What is (are) Gerstmann-Straussler-Scheinker disease ?,"Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages.",GARD,Gerstmann-Straussler-Scheinker disease +What are the symptoms of Gerstmann-Straussler-Scheinker disease ?,"What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gerstmann-Straussler-Scheinker disease +What causes Gerstmann-Straussler-Scheinker disease ?,"What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS.",GARD,Gerstmann-Straussler-Scheinker disease +Is Gerstmann-Straussler-Scheinker disease inherited ?,"How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GSS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Gerstmann-Straussler-Scheinker disease +How to diagnose Gerstmann-Straussler-Scheinker disease ?,"How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease) A family history consistent with autosomal dominant inheritance Identification of a disease-causing mutation of the PRNP gene Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.",GARD,Gerstmann-Straussler-Scheinker disease +What are the treatments for Gerstmann-Straussler-Scheinker disease ?,How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource.,GARD,Gerstmann-Straussler-Scheinker disease +What is (are) Fitz-Hugh-Curtis syndrome ?,"Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women. Fitz-Hugh-Curtis syndrome is treated with antibiotics.",GARD,Fitz-Hugh-Curtis syndrome +What are the treatments for Fitz-Hugh-Curtis syndrome ?,"How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS.",GARD,Fitz-Hugh-Curtis syndrome +What is (are) Psoriatic juvenile idiopathic arthritis ?,"Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.",GARD,Psoriatic juvenile idiopathic arthritis +What are the symptoms of Diffuse mesangial sclerosis ?,"What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse mesangial sclerosis +What are the symptoms of Renal hypouricemia ?,"What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal hypouricemia +What are the symptoms of Lipase deficiency combined ?,"What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lipase deficiency combined +What are the symptoms of Keratolytic winter erythema ?,"What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratolytic winter erythema +"What are the symptoms of Frontotemporal dementia, ubiquitin-positive ?","What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agitation - Apathy - Aphasia - Apraxia - Autosomal dominant inheritance - Cerebral cortical atrophy - Dilation of lateral ventricles - Disinhibition - Dysphasia - Frontotemporal dementia - Gliosis - Hallucinations - Hyperorality - Hypersexuality - Memory impairment - Mutism - Neuronal loss in central nervous system - Parkinsonism - Perseveration - Personality changes - Polyphagia - Progressive language deterioration - Repetitive compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Frontotemporal dementia, ubiquitin-positive" +What is (are) Glucocorticoid-remediable aldosteronism ?,"Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.",GARD,Glucocorticoid-remediable aldosteronism +What are the symptoms of Glucocorticoid-remediable aldosteronism ?,"What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glucocorticoid-remediable aldosteronism +What is (are) Hypopituitarism ?,"Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). These hormones are important for directing body growth and development, and for regulating blood pressure and metabolism. Symptoms of this condition vary and depend on which hormones are affected. Treatment depends on the cause of this condition; once the cause is corrected, medication (hormone replacement therapy) must be taken to provide the body with the normal amount of hormones.",GARD,Hypopituitarism +What is (are) Lamellar ichthyosis ?,"Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Lamellar ichthyosis +What are the symptoms of Lamellar ichthyosis ?,"What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelid 90% Abnormality of the nail 90% Aplasia/Hypoplasia of the eyebrow 90% Dry skin 90% Hyperkeratosis 90% Ichthyosis 90% Lack of skin elasticity 90% Pruritus 90% Abnormality of the helix 50% Abnormality of the teeth 7.5% Cognitive impairment 7.5% Dehydration 7.5% Gangrene 7.5% Otitis media 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Sepsis 7.5% Short stature 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lamellar ichthyosis +What are the treatments for Lamellar ichthyosis ?,"How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, treatments to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells) are often recommended. This may include humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations. For people with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments is helpful to prevent the cornea from drying out. Topical or oral retinoid therapy may be recommended for those with severe skin involvement; however, these medications can be associated with undesired side effects and are, therefore, generally prescribed with caution.",GARD,Lamellar ichthyosis +What are the symptoms of Neutrophil-specific granule deficiency ?,"What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neutrophil-specific granule deficiency +What is (are) Pectus carinatum ?,"Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.",GARD,Pectus carinatum +What is (are) Charcot-Marie-Tooth disease type 2F ?,"Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.",GARD,Charcot-Marie-Tooth disease type 2F +What are the symptoms of Charcot-Marie-Tooth disease type 2F ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed by slowly progressive weakness and atrophy of distal muscles in the feet and/or hands. Individuals often have decreased tendon reflexes and mild or no sensory loss. Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea. CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Fasciculations - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Pes cavus - Steppage gait - Ulnar claw - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2F +What causes Charcot-Marie-Tooth disease type 2F ?,"What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.",GARD,Charcot-Marie-Tooth disease type 2F +Is Charcot-Marie-Tooth disease type 2F inherited ?,"How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.",GARD,Charcot-Marie-Tooth disease type 2F +How to diagnose Charcot-Marie-Tooth disease type 2F ?,"Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Charcot-Marie-Tooth disease type 2F +What are the treatments for Charcot-Marie-Tooth disease type 2F ?,"How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Depending on the individual's signs and symptoms, the following may be indicated: Special shoes, including those with good ankle support Ankle/foot orthoses (AFO) to correct foot drop and aid with walking Orthopedic surgery to correct severe pes cavus Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs) Treatment of sleep apnea or restless legs Treatment of pain and depression as needed",GARD,Charcot-Marie-Tooth disease type 2F +What is (are) Adiposis dolorosa ?,"Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.",GARD,Adiposis dolorosa +What are the symptoms of Adiposis dolorosa ?,"What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). The lipomas may occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints. Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight. Sparse pubic hair and underarm hair have been reported in some affected people. The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds. The Human Phenotype Ontology provides the following list of signs and symptoms for Adiposis dolorosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Obesity 90% Abnormal hair quantity 50% Arthritis 7.5% Autoimmunity 7.5% Bruising susceptibility 7.5% Constipation 7.5% Developmental regression 7.5% Diarrhea 7.5% Dry skin 7.5% Hypothyroidism 7.5% Keratoconjunctivitis sicca 7.5% Memory impairment 7.5% Migraine 7.5% Paresthesia 7.5% Seizures 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Xerostomia 7.5% Anxiety - Autosomal dominant inheritance - Chronic pain - Fatigue - Middle age onset - Painful subcutaneous lipomas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Adiposis dolorosa +What causes Adiposis dolorosa ?,"What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.",GARD,Adiposis dolorosa +Is Adiposis dolorosa inherited ?,"Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner. In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.",GARD,Adiposis dolorosa +How to diagnose Adiposis dolorosa ?,"Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.",GARD,Adiposis dolorosa +What are the treatments for Adiposis dolorosa ?,"How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.",GARD,Adiposis dolorosa +What is (are) Axial spondylometaphyseal dysplasia ?,"Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.",GARD,Axial spondylometaphyseal dysplasia +What are the symptoms of Axial spondylometaphyseal dysplasia ?,"What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demonstrate growth failure by late infancy to early childhood. A measurement called standard deviation (SD) is used to compare the height of different children. If a child's height is more than 2 SD's below the average height of other children the same age, the child is said to have short stature. This means that almost all of the other children that age (more than 95% or 19 out of 20) are taller. Individual case reports of children and an adult with axial spondlometaphyseal dysplasia demonstrate height as being between 2 to 6 SDs below average. Infants with axial spondlometaphyseal dysplasia tend to have a shortened chest with short ribs, a condition called thoracic hypoplasia. Thoracic hypoplasia tends to become more prominent in childhood, and less noticeable in adolescence and adulthood. Thoracic hypoplasia may cause mild to moderate breathing problems in infants and recurring lung infections in childhood. Young children with axial spondlometaphyseal dysplasia have shortened upper arms and upper leg bones, which may become less prominent as they grow. Spine changes include vertebrae that have a flattened appearance on x-ray. This finding is typically mild in infancy and early childhood, becomes more apparent in late childhood, then self-corrects by adulthood. Some individuals with axial spondylometaphyseal dysplasia develop scoliosis (curvature of the spine). Pelvic bone changes can be seen in infants and children. Some of these changes self-correct by adulthood. A condition called coxa vara (where the angle between the top of the femur and the femoral shaft is smaller than normal) is common beginning in late childhood and persists through adulthood. Coxa vara may affect gait (pattern or way of walking). Some people with axial spondlometaphyseal dysplasia have minor bone changes in their knees. Vision problems, including retinitis pigmentosa and/or optic atrophy, become evident in infancy or early childhood and rapidly worsen. Retinitis pigmentosa causes cells in the retina to breakdown and die, eventually resulting in vision loss. Optic atrophy causes vision to dim and reduces the field of vision. It also reduces the ability to see fine detail and color (ie., colors will seem faded). With the progression of optic atrophy, a person's pupil reaction to light diminishes and may eventually be lost. Long term outlook for vision for people with axial spondylometaphyseal dysplasia is poor. The Human Phenotype Ontology provides the following list of signs and symptoms for Axial spondylometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed skeletal maturation 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Visual impairment 90% Abnormality of the hip bone 50% Enlarged thorax 50% Frontal bossing 50% Optic atrophy 50% Anteverted nares 7.5% Astigmatism 7.5% Hypertelorism 7.5% Photophobia 7.5% Proptosis 7.5% Short nose 7.5% Telecanthus 7.5% Anterior rib cupping - Autosomal recessive inheritance - Coxa vara - Narrow greater sacrosciatic notches - Nystagmus - Proximal femoral metaphyseal irregularity - Recurrent pneumonia - Rod-cone dystrophy - Short femoral neck - Spondylometaphyseal dysplasia - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Axial spondylometaphyseal dysplasia +What are the treatments for Axial spondylometaphyseal dysplasia ?,"How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc.",GARD,Axial spondylometaphyseal dysplasia +What is (are) Thoracic outlet syndrome ?,"Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.",GARD,Thoracic outlet syndrome +What are the symptoms of Thoracic outlet syndrome ?,"What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thoracic outlet syndrome +Is Thoracic outlet syndrome inherited ?,"Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/",GARD,Thoracic outlet syndrome +How to diagnose Thoracic outlet syndrome ?,"How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult.",GARD,Thoracic outlet syndrome +What is (are) Chronic active Epstein-Barr virus infection ?,"Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis. Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV.",GARD,Chronic active Epstein-Barr virus infection +What are the symptoms of Chronic active Epstein-Barr virus infection ?,"What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Fever - Pneumonia - Sinusitis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chronic active Epstein-Barr virus infection +What are the symptoms of Optic atrophy 1 and deafness ?,"What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Optic atrophy 1 and deafness +What is (are) Potocki-Shaffer syndrome ?,"Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.",GARD,Potocki-Shaffer syndrome +What are the symptoms of Potocki-Shaffer syndrome ?,"What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal foramina Multiple exostoses Intellectual disability Developmental delay Failure to thrive Autism Behavioral problems Deafness Myopia (nearsightedness) Nystagmus Cataract Strabismus Aniridia Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible) Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn. The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Potocki-Shaffer syndrome +What are the treatments for Potocki-Shaffer syndrome ?,"How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region; Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay. Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.",GARD,Potocki-Shaffer syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 1B ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1B +What are the symptoms of Taurodontia absent teeth sparse hair ?,"What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Taurodontia absent teeth sparse hair +What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ?,"What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Generalized ichthyosis - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin +What is (are) Isolated levocardia ?,"Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal malrotation. Long term outlook varies depending on the presence/absence of associated abnormalities, particularly heart defects. The cause of isolated levocardia is not known. It is not usually associated with chromosome abnormalities.[7363]",GARD,Isolated levocardia +How to diagnose Isolated levocardia ?,"Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. In addition, a careful assessment of the spleen in the newborn is important. People with spleen dysfunction are at an increased risk for serious infection and benefit from prophylactic life-long antibiotics and vaccination. Barium contrast screening has been used for early detection of intestinal malrotation and to guide treatment. Also, long-term, infrequent follow-up of infants and adults with isoalted levocardia to monitor for heart rhythm problems is recommended.",GARD,Isolated levocardia +What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ?,"What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chondrodysplasia acromesomelic with genital anomalies +What are the symptoms of Pitt-Hopkins-like syndrome ?,"What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epileptic encephalopathy 75% Broad-based gait 5% Autosomal recessive inheritance - Constipation - Drooling - Feeding difficulties - Gastroesophageal reflux - Hyperventilation - Intellectual disability, severe - Muscular hypotonia - Protruding tongue - Pulmonic stenosis - Scoliosis - Strabismus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pitt-Hopkins-like syndrome +What is (are) Coats disease ?,"Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.",GARD,Coats disease +What are the symptoms of Coats disease ?,"What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment. The Human Phenotype Ontology provides the following list of signs and symptoms for Coats disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Strabismus 90% Abnormality of the macula 50% Glaucoma 50% Retinal detachment 50% Abnormality of the anterior chamber 7.5% Aplasia/Hypoplasia of the iris 7.5% Cataract 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Coats disease +What causes Coats disease ?,"What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).",GARD,Coats disease +Is Coats disease inherited ?,"How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in people with Senior-Loken syndrome and is a key symptom of a condition called Coats plus syndrome, which is characterized by Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Both of these conditions are inherited in an autosomal recessive manner.",GARD,Coats disease +How to diagnose Coats disease ?,"Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.",GARD,Coats disease +What are the treatments for Coats disease ?,"How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.",GARD,Coats disease +"What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.",GARD,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stroke 5% Autosomal dominant inheritance - Cerebral aneurysm - Hematuria - Leukoencephalopathy - Muscle cramps - Nephropathy - Renal cyst - Renal insufficiency - Retinal arteriolar tortuosity - Retinal hemorrhage - Supraventricular arrhythmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"What are the treatments for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms. In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).",GARD,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +What is (are) Cornelia de Lange syndrome ?,"Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Cornelia de Lange syndrome +What are the symptoms of Cornelia de Lange syndrome ?,"What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Autistic and/or self-destructive behaviors Skeletal abnormalities of the arms and hands Gastrointestinal problems Hirsutism (excess hair growth) Hearing loss Myopia Congenital heart defects Genital abnormalities (i.e. cryptorchidism) Seizures Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the metacarpal bones 90% Abnormality of the voice 90% Anteverted nares 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Highly arched eyebrow 90% Hypertonia 90% Long philtrum 90% Low anterior hairline 90% Low posterior hairline 90% Microcephaly 90% Micromelia 90% Proximal placement of thumb 90% Short neck 90% Short nose 90% Short palm 90% Short stature 90% Short toe 90% Synophrys 90% Thick eyebrow 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the nipples 50% Attention deficit hyperactivity disorder 50% Blepharitis 50% Clinodactyly of the 5th finger 50% Conductive hearing impairment 50% Cryptorchidism 50% Cutis marmorata 50% Displacement of the external urethral meatus 50% Elbow dislocation 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Microcornea 50% Multicystic kidney dysplasia 50% Myopia 50% Neurological speech impairment 50% Obsessive-compulsive behavior 50% Premature birth 50% Ptosis 50% Radioulnar synostosis 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Single transverse palmar crease 50% Sleep disturbance 50% Vesicoureteral reflux 50% Abnormality of the hip bone 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Atria septal defect 7.5% Autism 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Choanal atresia 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Glaucoma 7.5% Increased nuchal translucency 7.5% Intestinal malrotation 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Pectus excavatum 7.5% Peripheral neuropathy 7.5% Prenatal movement abnormality 7.5% Primary amenorrhea 7.5% Pyloric stenosis 7.5% Renal insufficiency 7.5% Seizures 7.5% Split hand 7.5% Strabismus 7.5% Talipes 7.5% Truncal obesity 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Volvulus 7.5% Proteinuria 5% Renal cyst 5% Renal hypoplasia 5% 2-3 toe syndactyly - Abnormality of the umbilicus - Astigmatism - Autosomal dominant inheritance - Behavioral abnormality - Brachycephaly - Cleft upper lip - Curly eyelashes - Delayed speech and language development - Duplication of internal organs - Ectopic kidney - Elbow flexion contracture - Gastroesophageal reflux - Hiatus hernia - High palate - Hirsutism - Hypoplasia of the radius - Hypoplastic labia majora - Hypoplastic male external genitalia - Hypoplastic nipples - Hypoplastic radial head - Hypospadias - Inguinal hernia - Intellectual disability - Limited elbow extension - Long eyelashes - Low-set ears - Malrotation of colon - Oligodactyly (hands) - Optic atrophy - Optic nerve coloboma - Phenotypic variability - Phocomelia - Pneumonia - Proptosis - Reduced renal corticomedullary differentiation - Self-injurious behavior - Short sternum - Sporadic - Supernumerary ribs - Thrombocytopenia - Weak cry - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cornelia de Lange syndrome +What causes Cornelia de Lange syndrome ?,"What causes Cornelia de Lange syndrome? Most cases (approximately 65%) of Cornelia de Lange syndrome (CdLS) are caused by changes (mutations) in the NIPBL gene. An additional 5% of people affected by the condition have mutations in one of four known genes (SMC1A, SMC3, HDAC8 and RAD21). Many of the genes associated with CdLS encode proteins that play an important role in human development before birth. Mutations in these genes may result in an abnormal protein that is not able to carry out its normal function. This is thought to interfere with early development leading to the many signs and symptoms of CdLS. In 30% of people with CdLS, the underlying genetic cause of the condition is unknown.",GARD,Cornelia de Lange syndrome +Is Cornelia de Lange syndrome inherited ?,"Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition.",GARD,Cornelia de Lange syndrome +How to diagnose Cornelia de Lange syndrome ?,"How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.",GARD,Cornelia de Lange syndrome +What are the treatments for Cornelia de Lange syndrome ?,"How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.",GARD,Cornelia de Lange syndrome +What are the symptoms of Encephalocraniocutaneous lipomatosis ?,"What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Encephalocraniocutaneous lipomatosis +What is (are) Norum disease ?,"Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity).",GARD,Norum disease +What are the symptoms of Norum disease ?,"What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Norum disease +What causes Norum disease ?,"What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes (red blood cells).",GARD,Norum disease +Is Norum disease inherited ?,"How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sporadic cases have also been reported.",GARD,Norum disease +What are the treatments for Norum disease ?,"How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication.",GARD,Norum disease +What is (are) Amyloidosis AA ?,"Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called ""amyloid fibrils"". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition.",GARD,Amyloidosis AA +What are the treatments for Amyloidosis AA ?,"What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.",GARD,Amyloidosis AA +What is (are) Brachydactyly type C ?,"Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.",GARD,Brachydactyly type C +What are the symptoms of Brachydactyly type C ?,"What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type C +What are the symptoms of Say-Field-Coldwell syndrome ?,"What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Say-Field-Coldwell syndrome +What is (are) Tetralogy of Fallot ?,"Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.",GARD,Tetralogy of Fallot +What are the symptoms of Tetralogy of Fallot ?,"What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Brachydactyly syndrome 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Intrauterine growth retardation 90% Abnormality of periauricular region 50% Cryptorchidism 50% Dolichocephaly 50% Proptosis 50% Tetralogy of Fallot 50% Thin vermilion border 50% Underdeveloped supraorbital ridges 50% Autosomal dominant inheritance - Preauricular pit - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetralogy of Fallot +What is (are) X-linked creatine deficiency ?,"X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.",GARD,X-linked creatine deficiency +What are the symptoms of X-linked creatine deficiency ?,"What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked creatine deficiency +What is (are) Neuronal ceroid lipofuscinosis 5 ?,"Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Neuronal ceroid lipofuscinosis 5 +What are the symptoms of Neuronal ceroid lipofuscinosis 5 ?,"What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar atrophy 5% Dysarthria 5% Dysdiadochokinesis 5% Dysmetria 5% Nystagmus 5% Abnormal nervous system electrophysiology - Autosomal recessive inheritance - Clumsiness - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Developmental regression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Increased neuronal autofluorescent lipopigment - Intellectual disability - Motor deterioration - Myoclonus - Progressive visual loss - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Retinal degeneration - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuronal ceroid lipofuscinosis 5 +What is (are) Progressive transformation of germinal centers ?,"Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.",GARD,Progressive transformation of germinal centers +What causes Progressive transformation of germinal centers ?,"What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition.",GARD,Progressive transformation of germinal centers +What are the treatments for Progressive transformation of germinal centers ?,"What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shrink over time. Affected individuals should have regular follow-up visits with their physician; a biopsy should be taken of any new enlarged lymph node because PTGC is associated with Hodgkin lymphoma in some individuals.",GARD,Progressive transformation of germinal centers +What is (are) Barraquer-Simons syndrome ?,"Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.",GARD,Barraquer-Simons syndrome +What are the symptoms of Barraquer-Simons syndrome ?,"What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Barraquer-Simons syndrome +What are the treatments for Barraquer-Simons syndrome ?,"How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.",GARD,Barraquer-Simons syndrome +What is (are) Chromosome 4q deletion ?,"Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 4q deletion +What are the symptoms of Chromosome 4q deletion ?,"What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities",GARD,Chromosome 4q deletion +What causes Chromosome 4q deletion ?,"What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.",GARD,Chromosome 4q deletion +Is Chromosome 4q deletion inherited ?,"How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.",GARD,Chromosome 4q deletion +How to diagnose Chromosome 4q deletion ?,"How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.",GARD,Chromosome 4q deletion +What are the treatments for Chromosome 4q deletion ?,"How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,Chromosome 4q deletion +What are the symptoms of Kallmann syndrome 3 ?,"What are the signs and symptoms of Kallmann syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Seizures 5% Anosmia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cryptorchidism - Hypogonadotrophic hypogonadism - Hypotelorism - Micropenis - Pectus excavatum - Pes planus - Primary amenorrhea - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kallmann syndrome 3 +What are the symptoms of Haim-Munk syndrome ?,"What are the signs and symptoms of Haim-Munk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Haim-Munk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Arachnodactyly 90% Gingival overgrowth 90% Osteolysis 90% Palmoplantar keratoderma 90% Periodontitis 90% Pes planus 90% Abnormality of the distal phalanx of finger 50% Skin ulcer 50% Arthritis 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Congenital palmoplantar keratosis - Osteolytic defects of the phalanges of the hand - Recurrent bacterial skin infections - Severe periodontitis - Tapering pointed ends of distal finger phalanges - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Haim-Munk syndrome +"What are the symptoms of Temporal epilepsy, familial ?","What are the signs and symptoms of Temporal epilepsy, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Temporal epilepsy, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Febrile seizures - Focal seizures with impairment of consciousness or awareness - Focal seizures without impairment of consciousness or awareness - Generalized tonic-clonic seizures - Incomplete penetrance - Onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Temporal epilepsy, familial" +"What are the symptoms of Neuropathy, distal hereditary motor, Jerash type ?","What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 5% Autosomal recessive inheritance - Babinski sign - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Pes cavus - Progressive - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Neuropathy, distal hereditary motor, Jerash type" +What are the symptoms of Idiopathic basal ganglia calcification childhood-onset ?,"What are the signs and symptoms of Idiopathic basal ganglia calcification childhood-onset? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic basal ganglia calcification childhood-onset. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Autosomal recessive inheritance - Basal ganglia calcification - Calcification of the small brain vessels - Decreased body weight - Dense calcifications in the cerebellar dentate nucleus - Dolichocephaly - Dysarthria - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - Limb joint contracture - Microcephaly - Seizures - Short stature - Spasticity - Tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic basal ganglia calcification childhood-onset +What are the symptoms of Neutropenia lethal congenital with eosinophilia ?,"What are the signs and symptoms of Neutropenia lethal congenital with eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia lethal congenital with eosinophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital neutropenia - Eosinophilia - Neonatal death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neutropenia lethal congenital with eosinophilia +What are the symptoms of Pontocerebellar hypoplasia type 3 ?,"What are the signs and symptoms of Pontocerebellar hypoplasia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachycephaly - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Decreased body weight - Depressed nasal bridge - Downturned corners of mouth - Full cheeks - Hearing impairment - High palate - Hyperreflexia - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Long palpebral fissure - Long philtrum - Low-set ears - Macrotia - Muscular hypotonia of the trunk - Neonatal hypotonia - Optic atrophy - Poor head control - Progressive - Progressive microcephaly - Proptosis - Seizures - Short stature - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pontocerebellar hypoplasia type 3 +What is (are) Syringoma ?,"Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. They are found more commonly in Caucasians, and in females at puberty or near middle-age.",GARD,Syringoma +What are the symptoms of Syringoma ?,"What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Syringoma +What are the treatments for Syringoma ?,"How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider.",GARD,Syringoma +What is (are) Human T-cell leukemia virus type 1 ?,"Human T-cell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-1 and it is considered a lifelong condition; however, most (95%) infected people remain asymptomatic (show no symptoms) throughout life.",GARD,Human T-cell leukemia virus type 1 +What are the symptoms of Human T-cell leukemia virus type 1 ?,"What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. Approximately 2-5% of people with HTLV-1 will develop ATL, a cancer of the T-cells (a type of white blood cell). The signs and symptoms of this condition and the disease progression vary from person to person. Affected people may have the following features: Fatigue Lymphadenopathy (swollen lymph nodes) Thirst Nausea and vomiting Fever Skin and bone abnormalities Enlarged liver and/or spleen Frequent infections Roughly .25-2% of people with HTLV-1 will develop HAM/TSP, a chronic, progressive disease of the nervous system. Signs and symptoms of this condition vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache 'Weak' bladder Constipation",GARD,Human T-cell leukemia virus type 1 +What causes Human T-cell leukemia virus type 1 ?,"What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-1 develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.",GARD,Human T-cell leukemia virus type 1 +How to diagnose Human T-cell leukemia virus type 1 ?,"How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-1-associated condition such as adult T-cell leukemia (ATL) or HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).",GARD,Human T-cell leukemia virus type 1 +What are the treatments for Human T-cell leukemia virus type 1 ?,"How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.",GARD,Human T-cell leukemia virus type 1 +What is (are) Aicardi-Goutieres syndrome type 2 ?,"Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.",GARD,Aicardi-Goutieres syndrome type 2 +What are the symptoms of Aicardi-Goutieres syndrome type 2 ?,"What are the signs and symptoms of Aicardi-Goutieres syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dystonia 5% Microcephaly 5% Spastic paraplegia 5% Autosomal recessive inheritance - Basal ganglia calcification - Cerebral atrophy - Chronic CSF lymphocytosis - Encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aicardi-Goutieres syndrome type 2 +What is (are) Ovarian small cell carcinoma ?,Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy.,GARD,Ovarian small cell carcinoma +What are the treatments for Ovarian small cell carcinoma ?,"What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma.",GARD,Ovarian small cell carcinoma +What is (are) Pigmented villonodular synovitis ?,"Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is grossly unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.",GARD,Pigmented villonodular synovitis +What causes Pigmented villonodular synovitis ?,"What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown. Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. The association between a history of trauma and the development of PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence. There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.",GARD,Pigmented villonodular synovitis +How to diagnose Pigmented villonodular synovitis ?,"How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease. Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a biopsy, in which a small operation is completed to obtain a tissue sample.",GARD,Pigmented villonodular synovitis +What are the treatments for Pigmented villonodular synovitis ?,"How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery.",GARD,Pigmented villonodular synovitis +"What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ?","What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Cognitive impairment 90% Cryptorchidism 90% EEG abnormality 90% Hypoplasia of penis 90% Microcephaly 90% Obesity 90% Sloping forehead 90% Thick lower lip vermilion 90% Attention deficit hyperactivity disorder 50% Downturned corners of mouth 50% Full cheeks 50% Hyperreflexia 50% Hypertonia 50% Muscular hypotonia 50% Nystagmus 50% Reduced number of teeth 50% Seizures 50% Talipes 50% Tapered finger 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" +What is (are) Cerebrotendinous xanthomatosis ?,"Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.",GARD,Cerebrotendinous xanthomatosis +What are the symptoms of Cerebrotendinous xanthomatosis ?,"What are the signs and symptoms of Cerebrotendinous xanthomatosis? The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears. Chronic diarrhea (infancy) Cataracts (early childhood) Mental impairment (infancy or at puberty) Xanthomas (adolescents to early adulthood) Dementia with slow deterioration in intellectual abilities (early adulthood) Spasticity (early adulthood) Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood) Behavioral changes (early adulthood) Hallucinations (early adulthood) Agitation (early adulthood) Aggression (early adulthood) Depression (early adulthood) Suicide attempt (early adulthood) Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebrotendinous xanthomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Cognitive impairment 90% Involuntary movements 90% Multiple lipomas 90% Abnormal pyramidal signs 50% Abnormality of extrapyramidal motor function 50% Developmental regression 50% Hallucinations 50% Hyperreflexia 50% Hypertonia 50% Muscle weakness 50% Neurological speech impairment 50% Peripheral neuropathy 50% Tremor 50% Abnormality of the liver 7.5% Cerebral calcification 7.5% EEG abnormality 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Nephrolithiasis 7.5% Seizures 7.5% Abnormality of central somatosensory evoked potentials - Abnormality of cholesterol metabolism - Abnormality of the dentate nucleus - Abnormality of the periventricular white matter - Angina pectoris - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Cholelithiasis - Delusions - Dementia - Diarrhea - EEG with generalized slow activity - EMG: axonal abnormality - Intellectual disability - Myocardial infarction - Optic disc pallor - Osteoporosis - Pseudobulbar paralysis - Respiratory insufficiency - Spasticity - Tendon xanthomatosis - Xanthelasma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerebrotendinous xanthomatosis +What causes Cerebrotendinous xanthomatosis ?,What causes cerebrotendinous xanthomatosis? Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene. This condition is inherited in an autosomal recessive pattern.,GARD,Cerebrotendinous xanthomatosis +How to diagnose Cerebrotendinous xanthomatosis ?,"Is genetic testing available for cerebrotendinous xanthomatosis? Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition. How is cerebrotendinous xanthomatosis diagnosed? Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. Individuals with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.",GARD,Cerebrotendinous xanthomatosis +What are the treatments for Cerebrotendinous xanthomatosis ?,"How might cerebrotendinous xanthomatosis be treated? Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.",GARD,Cerebrotendinous xanthomatosis +What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ?,"What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysgammaglobulinemia - Ectodermal dysplasia - Immunodeficiency - Recurrent infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypohidrotic ectodermal dysplasia with immune deficiency +What is (are) Tracheoesophageal fistula ?,"Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.",GARD,Tracheoesophageal fistula +What are the symptoms of Tracheoesophageal fistula ?,"What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Esophageal atresia - Tracheoesophageal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tracheoesophageal fistula +Is Tracheoesophageal fistula inherited ?,"Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial.",GARD,Tracheoesophageal fistula +What is (are) X-linked congenital stationary night blindness ?,"X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.",GARD,X-linked congenital stationary night blindness +What are the symptoms of X-linked congenital stationary night blindness ?,"What are the signs and symptoms of X-linked congenital stationary night blindness? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked congenital stationary night blindness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital stationary night blindness - Hemeralopia - Severe Myopia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked congenital stationary night blindness +How to diagnose X-linked congenital stationary night blindness ?,"Is genetic testing available for X-linked congenital stationary night blindness? Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene. The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,X-linked congenital stationary night blindness +"What is (are) Camurati Engelmann disease, type 2 ?","Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.",GARD,"Camurati Engelmann disease, type 2" +What are the symptoms of Quinquaud's decalvans folliculitis ?,"What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Pustule 90% Skin ulcer 90% Atypical scarring of skin 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Quinquaud's decalvans folliculitis +What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ?,"What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the antihelix 90% Carious teeth 90% Cerebral calcification 90% Cognitive impairment 90% Hypoplasia of the zygomatic bone 90% Increased number of teeth 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the genital system 50% Conductive hearing impairment 50% Nephrogenic diabetes insipidus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diabetes insipidus nephrogenic mental retardation and intracerebral calcification +What is (are) Congenital myasthenic syndrome ?,"Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.",GARD,Congenital myasthenic syndrome +Is Congenital myasthenic syndrome inherited ?,"How is congenital myasthenic syndrome inherited? Almost all types of CMS are inherited in an autosomal recessive manner. In order to have the autosomal recessive form of CMS, both parents of an affected individual must be carriers of the disease causing mutation. If a person has CMS, but their partner is not a carrier of a CMS mutation, then their children will be carriers but will not have CMS. If one person has CMS and one person is a carrier of CMS, each child has a 50% chance of either being a carrier of CMS or having the disorder. Only one form of CMS (slow-channel syndrome congenital myasthenic syndrome) has been shown to be inherited in an autosomal dominant manner. This means that if one parent has slow-channel syndrome congenital myasthenic syndrome then all of their children have a 50% chance of inheriting the disorder as well. It is important to discuss this information with your health care provider, such as a genetic counselor, to accurately determine a person's risk for passing on this disorder.",GARD,Congenital myasthenic syndrome +What is (are) Leukonychia totalis ?,"Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition.",GARD,Leukonychia totalis +What are the symptoms of Leukonychia totalis ?,"What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leukonychia totalis +What causes Leukonychia totalis ?,"What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic).",GARD,Leukonychia totalis +Is Leukonychia totalis inherited ?,"Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause). Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms.",GARD,Leukonychia totalis +What are the treatments for Leukonychia totalis ?,"How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.",GARD,Leukonychia totalis +What is (are) Limb-girdle muscular dystrophy type 2I ?,"Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.",GARD,Limb-girdle muscular dystrophy type 2I +What are the symptoms of Limb-girdle muscular dystrophy type 2I ?,"What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exercise-induced myoglobinuria 25% Achilles tendon contracture - Autosomal recessive inheritance - Calf muscle hypertrophy - Congenital muscular dystrophy - Difficulty climbing stairs - Difficulty walking - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Frequent falls - Hyperlordosis - Impaired left ventricular function - Kyphosis - Macroglossia - Muscle cramps - Myalgia - Nocturnal hypoventilation - Pelvic girdle muscle weakness - Proximal muscle weakness - Restrictive respiratory insufficiency - Scoliosis - Shoulder girdle muscle weakness - Thigh hypertrophy - Toe walking - Variable expressivity - Vertebral fusion - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Limb-girdle muscular dystrophy type 2I +What is (are) Beriberi ?,"Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases, beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.",GARD,Beriberi +What is (are) X-linked Charcot-Marie-Tooth disease type 5 ?,"X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed.",GARD,X-linked Charcot-Marie-Tooth disease type 5 +What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ?,"What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked Charcot-Marie-Tooth disease type 5 +What is (are) Bobble-head doll syndrome ?,"Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that also cause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.",GARD,Bobble-head doll syndrome +What are the symptoms of Platyspondylic lethal skeletal dysplasia Torrance type ?,"What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short distal phalanx of finger 90% Short stature 90% Short thorax 90% Short toe 90% Aplasia/Hypoplasia of the lungs 50% Depressed nasal bridge 50% Genu varum 50% Hydrops fetalis 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Polyhydramnios 50% Sprengel anomaly 50% Cleft palate 7.5% Abnormality of the abdominal wall - Autosomal dominant inheritance - Coarse facial features - Decreased cranial base ossification - Disc-like vertebral bodies - Flat acetabular roof - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubic bone - Lethal skeletal dysplasia - Macrocephaly - Metaphyseal cupping - Neonatal short-limb short stature - Protuberant abdomen - Severe limb shortening - Severe platyspondyly - Short long bone - Short neck - Short ribs - Thin ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Platyspondylic lethal skeletal dysplasia Torrance type +What is (are) Primary orthostatic tremor ?,"Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown.",GARD,Primary orthostatic tremor +What are the symptoms of Primary orthostatic tremor ?,"What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Flexion contracture 90% Tremor 90% Myalgia 50% Abnormality of extrapyramidal motor function 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary orthostatic tremor +What is (are) Polyarteritis nodosa ?,"Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, and abdominal pain. The skin may show rashes, swelling, ulcers, and lumps. When nerve cells are involved numbness, pain, burning, and weakness may be present. Polyarteritis nodosa can cause serious health complications including strokes, seizures, and kidney failure. Treatment often includes steroids and other drugs to suppress the immune system.",GARD,Polyarteritis nodosa +What are the symptoms of Polyarteritis nodosa ?,"What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal pyramidal signs 90% Abnormality of temperature regulation 90% Aneurysm 90% Arthralgia 90% Asthma 90% Cutis marmorata 90% Edema of the lower limbs 90% Hemiplegia/hemiparesis 90% Hypertensive crisis 90% Hypertrophic cardiomyopathy 90% Migraine 90% Myalgia 90% Nephropathy 90% Orchitis 90% Paresthesia 90% Polyneuropathy 90% Renal insufficiency 90% Skin rash 90% Subcutaneous hemorrhage 90% Vasculitis 90% Weight loss 90% Arrhythmia 50% Behavioral abnormality 50% Coronary artery disease 50% Gangrene 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Leukocytosis 50% Seizures 50% Skin ulcer 50% Urticaria 50% Abnormality of extrapyramidal motor function 7.5% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Acrocyanosis 7.5% Arterial thrombosis 7.5% Arthritis 7.5% Ascites 7.5% Autoimmunity 7.5% Congestive heart failure 7.5% Encephalitis 7.5% Hemobilia 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Myositis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Pancreatitis 7.5% Retinal detachment 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polyarteritis nodosa +What are the treatments for Polyarteritis nodosa ?,"How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as cyclophosphamide, chlorambucil, azathioprine, methotrexate, dapsone, cyclosporine, or plasma exchange, may also be recommended. The goal of therapy is remission (to have no active disease) within 6 months or so. At this point the person may be maintained on cyclophosphamide (or other therapy) for a year, before it is tapered and withdrawn over the course of 3 to 6 months.It is very important that people undergoing treatment for polyarteritis nodosa be monitored closely for toxic effects of the drugs or for signs of worsening disease. This monitoring may involve blood counts, urinalyses, serum chemistries, and the ESR on at least monthly intervals.",GARD,Polyarteritis nodosa +"What is (are) Ehlers-Danlos syndrome, vascular type ?","Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.",GARD,"Ehlers-Danlos syndrome, vascular type" +"What are the symptoms of Ehlers-Danlos syndrome, vascular type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), vascular type vary but may include: Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture Thin, translucent skin Characteristic facial appearance (thin lips, small chin, thin nose, large eyes) Acrogeria (premature aging of the skin of the hands and feet) Hypermobility of small joints (i.e. fingers and toes) Early-onset varicose veins Pneumothorax Easy bruising Joint dislocations and subluxations (partial dislocation) Congenital dislocation of the hips Congenital clubfoot Receding gums The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, vascular type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Abnormality of the mitral valve 90% Abnormality of the pleura 90% Acrocyanosis 90% Aneurysm 90% Aortic dissection 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Bladder diverticulum 90% Bruising susceptibility 90% Carious teeth 90% Cognitive impairment 90% Cryptorchidism 90% Epicanthus 90% Flexion contracture 90% Gastrointestinal infarctions 90% Hypermelanotic macule 90% Hypertelorism 90% Hypokalemia 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Pectus excavatum 90% Peripheral arteriovenous fistula 90% Prematurely aged appearance 90% Short stature 90% Sprengel anomaly 90% Telecanthus 90% Thin skin 90% Glaucoma 50% Malar flattening 50% Premature birth 50% Proptosis 50% Respiratory insufficiency 50% Talipes 50% Telangiectasia of the skin 50% Thin vermilion border 50% Venous insufficiency 50% Abnormality of hair texture 7.5% Abnormality of the intestine 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pupil 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Apnea 7.5% Arterial dissection 7.5% Atypical scarring of skin 7.5% Blue sclerae 7.5% Cerebral ischemia 7.5% Cutis laxa 7.5% Cystocele 7.5% Decreased corneal thickness 7.5% Deeply set eye 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Gingival overgrowth 7.5% Gingivitis 7.5% Hematuria 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Microdontia 7.5% Migraine 7.5% Narrow nasal bridge 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Premature loss of primary teeth 7.5% Ptosis 7.5% Reduced consciousness/confusion 7.5% Renovascular hypertension 7.5% Trismus 7.5% Umbilical hernia 7.5% Uterine rupture 7.5% Vertigo 7.5% Abnormality of the urinary system - Absent earlobe - Acroosteolysis (feet) - Alopecia of scalp - Autosomal dominant inheritance - Cerebral aneurysm - Cigarette-paper scars - Fragile skin - Hemoptysis - Hypermobility of distal interphalangeal joints - Inguinal hernia - Keratoconus - Mitral valve prolapse - Molluscoid pseudotumors - Osteolytic defects of the phalanges of the hand - Periodontitis - Premature delivery because of cervical insufficiency or membrane fragility - Premature loss of teeth - Spontaneous pneumothorax - Talipes equinovarus - Uterine prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, vascular type" +"What causes Ehlers-Danlos syndrome, vascular type ?","What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen molecules and/or reduced amounts of functional type III collagen. This causes the many signs and symptoms associated with EDS, vascular type.",GARD,"Ehlers-Danlos syndrome, vascular type" +"Is Ehlers-Danlos syndrome, vascular type inherited ?","Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with EDS, vascular type has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,"Ehlers-Danlos syndrome, vascular type" +"How to diagnose Ehlers-Danlos syndrome, vascular type ?","How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene can then be ordered to confirm the diagnosis. Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with EDS, vascular type have abnormalities in type III collagen.",GARD,"Ehlers-Danlos syndrome, vascular type" +"What are the treatments for Ehlers-Danlos syndrome, vascular type ?","How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,"Ehlers-Danlos syndrome, vascular type" +What are the symptoms of Retinal cone dystrophy 1 ?,"What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% Autosomal dominant inheritance - Bull's eye maculopathy - Diffuse retinal cone degeneration - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinal cone dystrophy 1 +What is (are) GM1 gangliosidosis ?,"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.",GARD,GM1 gangliosidosis +What are the symptoms of GM1 gangliosidosis ?,"What are the signs and symptoms of GM1 gangliosidosis? There are three general types of GM1 gangliosidosis, which differ in severity but can have considerable overlap of signs and symptoms. Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of age). Affected infants typically appear normal until onset, but developmental regression (loss of acquired milestones) eventually occurs. Signs and symptoms may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, a distended abdomen, muscle weakness, an exaggerated startle response to sound, and problems with gait (manner of walking). About half of people with this type develop cherry-red spots in the eye. Children may become deaf and blind by one year of age. Affected children typically do not live past 2 years of age. Juvenile (type 2) GM1 gangliosidosis is considered an intermediate form of the condition and may begin between the ages of 1 and 5. Features include ataxia, seizures, dementia, and difficulties with speech. This type progresses more slowly than type 1, but still causes decreased life expectancy (around mid-childhood or early adulthood). Adult (type 3) GM1 gangliosidosis may cause signs and symptoms to develop anywhere between the ages of 3 and 30. Affected people may have muscle atrophy, corneal clouding and dystonia. Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Arthralgia 90% Coarse facial features 90% Depressed nasal ridge 90% Encephalitis 90% Frontal bossing 90% Hyperreflexia 90% Hypertonia 90% Limitation of joint mobility 90% Long philtrum 90% Macrotia 90% Muscular hypotonia 90% Nystagmus 90% Rough bone trabeculation 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Splenomegaly 90% Weight loss 90% Abnormal form of the vertebral bodies 50% Abnormality of the tongue 50% Camptodactyly of finger 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hyperlordosis 50% Hypertrichosis 50% Incoordination 50% Mandibular prognathia 50% Opacification of the corneal stroma 50% Seizures 50% Strabismus 50% Tremor 50% Abnormality of the macula 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the scrotum 7.5% Congestive heart failure 7.5% Optic atrophy 7.5% Recurrent respiratory infections 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GM1 gangliosidosis +What causes GM1 gangliosidosis ?,"What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels.",GARD,GM1 gangliosidosis +Is GM1 gangliosidosis inherited ?,"How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.",GARD,GM1 gangliosidosis +How to diagnose GM1 gangliosidosis ?,"Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,GM1 gangliosidosis +What are the treatments for GM1 gangliosidosis ?,"How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.",GARD,GM1 gangliosidosis +What is (are) Chromosome 3p- syndrome ?,"Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 3p- syndrome +What are the symptoms of Chromosome 3p- syndrome ?,"What are the signs and symptoms of Chromosome 3p- syndrome? The signs and symptoms of chromosome 3p- syndrome and the severity of the condition depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this condition include: Growth problems both before and after birth Feeding difficulties Developmental delay Poor muscle tone (hypotonia) Intellectual disability Ptosis Distinctive facial features Microcephaly and/or unusual head shape Autism spectrum disorder Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects. To read more about some of the signs and symptoms reported in people with 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the published medical literature, and partly from Unique's database of members with a 3p deletion. The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 3p- syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Long philtrum 90% Ptosis 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Cleft palate 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Downturned corners of mouth 50% Epicanthus 50% Hearing impairment 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Postaxial hand polydactyly 50% Abnormality of periauricular region 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Blepharophimosis 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Sacral dimple 7.5% Seizures 7.5% Short neck 7.5% Thin vermilion border 7.5% Triangular face 7.5% Umbilical hernia 7.5% Ventriculomegaly 7.5% Abnormal renal morphology 5% Atrioventricular canal defect 5% Macular hypoplasia 5% Prominent nasal bridge 5% Autosomal dominant inheritance - Brachycephaly - Depressed nasal bridge - Feeding difficulties - Flat occiput - High palate - Low-set ears - Periorbital fullness - Postaxial polydactyly - Postnatal growth retardation - Preauricular pit - Prominent metopic ridge - Retrognathia - Spasticity - Synophrys - Trigonocephaly - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 3p- syndrome +What causes Chromosome 3p- syndrome ?,"What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.",GARD,Chromosome 3p- syndrome +Is Chromosome 3p- syndrome inherited ?,"Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child. In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome. People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.",GARD,Chromosome 3p- syndrome +How to diagnose Chromosome 3p- syndrome ?,"How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.",GARD,Chromosome 3p- syndrome +What are the treatments for Chromosome 3p- syndrome ?,"How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) and/or muscle problems may be referred for physical or occupational therapy. Severe feeding difficulties may be treated temporarily with a nasogastric tube or a gastrostomy tube to ensure that a baby or child gets enough nutrients. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present. Please speak to your healthcare provider if you have any questions about your personal medical management plan.",GARD,Chromosome 3p- syndrome +What is (are) 1q21.1 microdeletion syndrome ?,"1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.",GARD,1q21.1 microdeletion syndrome +What are the symptoms of 1q21.1 microdeletion syndrome ?,"What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,1q21.1 microdeletion syndrome +What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ?,"What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Lymphedema 90% Autosomal dominant inheritance - Pulmonary hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lymphedema and cerebral arteriovenous anomaly +"What are the symptoms of Neuropathy, hereditary motor and sensory, Okinawa type ?","What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hand tremor 5% Adult onset - Autosomal dominant inheritance - Decreased number of peripheral myelinated nerve fibers - Degeneration of anterior horn cells - Distal sensory impairment - Fasciculations - Gait disturbance - Gliosis - Hyperlipidemia - Mildly elevated creatine phosphokinase - Peripheral neuropathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Neuropathy, hereditary motor and sensory, Okinawa type" +What are the symptoms of Conotruncal heart malformations ?,"What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tetralogy of Fallot 90% Transposition of the great arteries 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Patent ductus arteriosus 50% Hypertelorism 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad hallux - Coarctation of aorta - Complete atrioventricular canal defect - Double outlet right ventricle - Postaxial polydactyly - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Conotruncal heart malformations +What is (are) Long QT syndrome 8 ?,"Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome. There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.",GARD,Long QT syndrome 8 +What are the symptoms of Long QT syndrome 8 ?,"What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Prolonged QT interval - Sudden death - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Long QT syndrome 8 +What are the symptoms of Histidinuria renal tubular defect ?,"What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypoglycemia 90% Hypoplastic toenails 90% Long philtrum 90% Macrotia 90% Sensorineural hearing impairment 90% Ventriculomegaly 90% Wide nasal bridge 90% Autosomal recessive inheritance - Generalized myoclonic seizures - Histidinuria - Impaired histidine renal tubular absorption - Intellectual disability - Rounded middle phalanx of finger - Short middle phalanx of finger - Smooth philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Histidinuria renal tubular defect +What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ?,"What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camptodactyly syndrome Guadalajara type 3 +What are the symptoms of MORM syndrome ?,"What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,MORM syndrome +What is (are) Thyroglossal tract cyst ?,A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development.,GARD,Thyroglossal tract cyst +What causes Thyroglossal tract cyst ?,"Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.",GARD,Thyroglossal tract cyst +What are the treatments for Thyroglossal tract cyst ?,How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth.,GARD,Thyroglossal tract cyst +What are the symptoms of Hand and foot deformity with flat facies ?,"What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Camptodactyly of finger 90% Depressed nasal bridge 90% High forehead 90% Long philtrum 90% Malar flattening 90% Abnormality of the palate 50% Coarse hair 50% Low posterior hairline 50% Muscular hypotonia 50% Abnormality of the foot - Autosomal dominant inheritance - Contractures of the interphalangeal joint of the thumb - Flat face - Intellectual disability - Metacarpophalangeal joint contracture - Neonatal hypotonia - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hand and foot deformity with flat facies +What are the symptoms of Proximal chromosome 18q deletion syndrome ?,"What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Proximal chromosome 18q deletion syndrome +What is (are) Neuronal ceroid lipofuscinosis ?,"Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Neuronal ceroid lipofuscinosis +What are the symptoms of Neuronal ceroid lipofuscinosis ?,"What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of the retinal vasculature 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Ocular albinism 90% Seizures 90% Visual impairment 90% Abnormality of metabolism/homeostasis 50% Abnormality of movement 50% Developmental regression 50% Neurological speech impairment 50% Optic atrophy 50% Behavioral abnormality 7.5% Incoordination 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuronal ceroid lipofuscinosis +What is (are) Aicardi-Goutieres syndrome type 4 ?,"Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.",GARD,Aicardi-Goutieres syndrome type 4 +What are the symptoms of Aicardi-Goutieres syndrome type 4 ?,"What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Cerebral calcification - Convex nasal ridge - CSF lymphocytic pleiocytosis - Death in childhood - Dystonia - Elevated hepatic transaminases - Feeding difficulties - Hepatomegaly - Hepatosplenomegaly - Hydrocephalus - Infantile onset - Intrauterine growth retardation - Leukodystrophy - Low-set ears - Pancytopenia - Progressive microcephaly - Severe global developmental delay - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aicardi-Goutieres syndrome type 4 +What are the symptoms of Spinal muscular atrophy type 3 ?,"What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal recessive inheritance - Degeneration of anterior horn cells - EMG abnormality - Hand tremor - Hyporeflexia - Limb fasciculations - Muscle cramps - Muscle weakness - Progressive - Spinal muscular atrophy - Tongue fasciculations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinal muscular atrophy type 3 +What is (are) Laryngomalacia ?,"Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by ""floppy"" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants.",GARD,Laryngomalacia +What are the symptoms of Laryngomalacia ?,"What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Laryngomalacia 90% Cleft palate 50% Non-midline cleft lip 50% Abnormality of the trachea - Autosomal dominant inheritance - Congenital laryngeal stridor - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laryngomalacia +Is Laryngomalacia inherited ?,"Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported as being associated with various syndromes. In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all individuals affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome. The inheritance pattern depends upon the specific syndrome present.",GARD,Laryngomalacia +"What are the symptoms of Pituitary hormone deficiency, combined 2 ?","What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal insufficiency - Autosomal recessive inheritance - Hypoglycemic seizures - Hypogonadism - Hypothyroidism - Neonatal hypoglycemia - Panhypopituitarism - Prolactin deficiency - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pituitary hormone deficiency, combined 2" +What are the symptoms of Multiple epiphyseal dysplasia 1 ?,"What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 50% Arthralgia 50% Brachydactyly syndrome 50% Micromelia 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Epiphyseal dysplasia - Generalized joint laxity - Hip osteoarthritis - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Limited hip movement - Mild short stature - Ovoid vertebral bodies - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple epiphyseal dysplasia 1 +What are the symptoms of 5q- syndrome ?,"What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cells of the megakaryocyte lineage - Autosomal dominant contiguous gene syndrome - Erythroid hypoplasia - Myelodysplasia - Refractory macrocytic anemia - Somatic mutation - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,5q- syndrome +What is (are) Malakoplakia ?,"Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis.",GARD,Malakoplakia +What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ?,"What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Camptodactyly of finger 90% Cleft palate 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Abnormal form of the vertebral bodies 50% Abnormal lung lobation 50% Abnormality of epiphysis morphology 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Aplasia/Hypoplasia of the lungs 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Overfolded helix 50% Thin vermilion border 50% Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Mesomelic arm shortening - Mesomelic leg shortening - Retrognathia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mesomelic dwarfism cleft palate camptodactyly +What is (are) Prinzmetal's variant angina ?,"Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. The symptoms of this condition usually respond to treatment. Individuals with Prinzmetals' variant angina may have a higher risk for heart attack or arrhythmia.",GARD,Prinzmetal's variant angina +What are the symptoms of Prinzmetal's variant angina ?,"What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, or arm Often occurs at rest Typically occurs at the same time each day, usually between midnight and 8am. Duration of pain is 5 to 30 minutes Pain is relieved by nitroglycerin Loss of consciousness",GARD,Prinzmetal's variant angina +What causes Prinzmetal's variant angina ?,"What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood flow. A prolonged spasm can cause chest pain, or even a heart attack (myocardial infarction).",GARD,Prinzmetal's variant angina +What are the treatments for Prinzmetal's variant angina ?,"What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve blood and oxygen flow. Medications may also include beta-blockers; however, in some individuals, beta-blockers may be harmful.",GARD,Prinzmetal's variant angina +What is (are) Arts syndrome ?,"Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.",GARD,Arts syndrome +What are the symptoms of Arts syndrome ?,"What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy). Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood. Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom. The Human Phenotype Ontology provides the following list of signs and symptoms for Arts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Peripheral neuropathy 90% Sensorineural hearing impairment 90% Visual impairment 90% Muscle weakness 50% Respiratory insufficiency 50% Pancreatic fibrosis 7.5% Hyperreflexia 5% Absent speech - Areflexia - Ataxia - Death in infancy - Drooling - Dysphagia - Growth delay - Hearing impairment - Immunodeficiency - Intellectual disability - Neonatal hypotonia - Nystagmus - Progressive muscle weakness - Recurrent infections - Recurrent upper respiratory tract infections - Seizures - Spinal cord posterior columns myelin loss - Tetraplegia - Visual loss - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Arts syndrome +What causes Arts syndrome ?,"What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.",GARD,Arts syndrome +Is Arts syndrome inherited ?,"How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms. In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.",GARD,Arts syndrome +What are the symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ?,"What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased number of CD4+ T cells - Decreased T cell activation - Immunodeficiency - Lymphoma - Recurrent viral infections - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia +What are the symptoms of Pontocerebellar hypoplasia type 6 ?,"What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Autosomal recessive inheritance - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Death in childhood - Deeply set eye - Failure to thrive - Hyperreflexia - Increased CSF lactate - Increased serum lactate - Lower limb spasticity - Muscular hypotonia - Narrow forehead - Narrow palate - Poor head control - Poor suck - Progressive - Progressive microcephaly - Prominent nasal bridge - Seizures - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pontocerebellar hypoplasia type 6 +"What is (are) Usher syndrome, type 2C ?","Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.",GARD,"Usher syndrome, type 2C" +"What are the symptoms of Usher syndrome, type 2C ?","What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Usher syndrome, type 2C" +"Is Usher syndrome, type 2C inherited ?","How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.",GARD,"Usher syndrome, type 2C" +What is (are) Iridocorneal endothelial syndrome ?,"Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.",GARD,Iridocorneal endothelial syndrome +What are the symptoms of Iridocorneal endothelial syndrome ?,"What are the signs and symptoms of iridocorneal endothelial (ICE) syndrome? The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of the pupil (the adjustable opening at the center of the iris that allows varying amounts of light to enter the eye). This cell movement also plugs the fluid outflow channels of the eye, causing glaucoma.",GARD,Iridocorneal endothelial syndrome +What causes Iridocorneal endothelial syndrome ?,"What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell.",GARD,Iridocorneal endothelial syndrome +What are the treatments for Iridocorneal endothelial syndrome ?,"How might iridocorneal endothelial (ICE) syndrome be treated? It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplant can also be used to treat corneal swelling.",GARD,Iridocorneal endothelial syndrome +What is (are) Duane syndrome type 2 ?,"Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia (""lazy eye""), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.",GARD,Duane syndrome type 2 +What are the symptoms of Duane syndrome type 2 ?,"What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Amblyopia 48% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Duane anomaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Duane syndrome type 2 +What is (are) Abetalipoproteinemia ?,"Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa. Most of the symptoms are due to defects in the absorption and transport of vitamin E. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.",GARD,Abetalipoproteinemia +What are the symptoms of Abetalipoproteinemia ?,"What are the signs and symptoms of Abetalipoproteinemia? The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acanthocytosis) nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life The Human Phenotype Ontology provides the following list of signs and symptoms for Abetalipoproteinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Malabsorption 90% Abnormality of movement 50% Abnormality of retinal pigmentation 50% Incoordination 50% Muscular hypotonia 50% Visual impairment 7.5% Abetalipoproteinemia - Acanthocytosis - Ataxia - Autosomal recessive inheritance - CNS demyelination - Fat malabsorption - Peripheral demyelination - Pigmentary retinal degeneration - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Abetalipoproteinemia +What causes Abetalipoproteinemia ?,"What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people.",GARD,Abetalipoproteinemia +Is Abetalipoproteinemia inherited ?,"How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier",GARD,Abetalipoproteinemia +How to diagnose Abetalipoproteinemia ?,Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Prenatal testing may also be available for pregnancies at increased risk if the mutations in the family have been identified.,GARD,Abetalipoproteinemia +What are the treatments for Abetalipoproteinemia ?,"How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, and neurologist.",GARD,Abetalipoproteinemia +What are the symptoms of Short limb dwarf lethal Colavita Kozlowski type ?,"What are the signs and symptoms of Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Short limb dwarf lethal Colavita Kozlowski type +What is (are) X-linked hypophosphatemia ?,"X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinical features include bone abnormalities such as bowed or bent legs, short stature, bone pain, and spontaneous dental abscesses. The condition is caused by mutations in the PHEX gene on the X chromosome, and is inherited in an X-linked dominant manner. Treatment generally involves phosphate supplementation along with high-dose calcitriol (active Vitamin D) and may also included growth hormones supplementation, corrective surgery, and dental treatment. With consistent treatment, prognosis is typically good, though growth rate may still be low.",GARD,X-linked hypophosphatemia +What are the symptoms of X-linked hypophosphatemia ?,"What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, symptoms may progress to include bone pain, joint pain caused by the calcification of tendons and ligaments, and spontaneous dental abscesses. Some people with XLH may also experience hearing loss, though this is highly variable and appears to be rare. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypophosphatemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked hypophosphatemia +What causes X-linked hypophosphatemia ?,"What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. Too much FGF23 causes phosphate wasting in the kidneys that prevents maintenance of proper phosphate levels in the blood and is responsible for the symptoms of XLH.",GARD,X-linked hypophosphatemia +Is X-linked hypophosphatemia inherited ?,"How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing along a mutation to each of her children. Since males only have one X-chromosome, a male with XLH will pass along the condition to all of his daughters, but not to his sons. PHEX mutations are inherited through families, but they can also occur spontaneously, explaining why some people with XLH may not have a previous family history.",GARD,X-linked hypophosphatemia +How to diagnose X-linked hypophosphatemia ?,"How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes for these symptoms. Biochemical findings include low concentrations of phosphate in the blood accompanied by unexpectedly normal levels of vitamin Dand calcium. Elevated levels of FGF23 and phosphate excretion can also be measured. Genetic testing is also available, but is not required to make a diagnosis. Is genetic testing available for X-linked hypophosphatemia? X-linked hypophosphatemia is generally diagnosed based upon clinical findings. Genetic testing is available to confirm a suspected diagnosis, but is not required. Available methods include single gene sequencing and deletion/duplication analysis of the PHEX gene. However, these tests are not able to detect a causal genetic change in all people affected with XLH. Panel testing is also available that looks for variants in a number of genes associated with other types of hypophosphatemic rickets.",GARD,X-linked hypophosphatemia +What are the treatments for X-linked hypophosphatemia ?,"How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcitriol increases calcium levels by promoting calcium absorption in the intestines, and calcium retention in kidneys. In children, treatment is usually initiated at the time of diagnosis and continues until bone growth is complete. The amount of phosphate and calcitriol are carefully monitored and adjusted to prevent the accumulation of calcium in the blood and kidneys, as these effects can harm the kidneys and other tissues. Hyperparathyroidism, an endocrine disorder characterized by weakness and fatigue, can also occur as a result of treatment, and doses may be modified to manage this secondary complication. The main treatment goal for adults is to help improve pain. As such, treatment duration and dosage vary based on individual needs. Other treatment options may include administration of growth hormones to improve short-term growth in children. Corrective surgery may be necessary to fix leg curvatures for children whose diagnosis was delayed, or whose initial treatment was not adequate. Additionally, skull abnormalities may require treatment for synostosis (premature closing of sutures in the brain). Spontaneous abscesses in the mouth may require dental procedures periodically. Recent clinical trials have investigated the potential of a new therapeutic antibody that inhibits fibroblast growth factor 23 (FGF23), a circulating hormone that causes phosphate wasting in the kidneys and is usually found in at high concentrations in people with XLH. These trials are ongoing, and more information can be found at clinicaltrials.gov.",GARD,X-linked hypophosphatemia +What is (are) 22q11.2 deletion syndrome ?,"22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner.",GARD,22q11.2 deletion syndrome +What are the symptoms of 22q11.2 deletion syndrome ?,"What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial features (e.g., elongated face, almond-shaped eyes, wide nose, and small ears) Learning difficulties (70-90% of individuals) Immune system problems (75% of individuals) Low levels of calcium (50% of individuals) Significant feeding problems (30% of individuals) Kidney anomalies (37% of individuals) Hearing loss Laryngotracheoesophageal anomalies Growth hormone deficiency Autoimmune disorders (e.g., thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid, vitiligo, neutropenia, and hemolytic anemia) Seizures Skeletal abnormalities (e.g., extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis) Psychiatric illness Eye abnormalities (e.g., ptosis, coloboma, cataract, and strabismus) Central nervous system abnormalities Gastrointestinal anomalies Preauricular tags Abnormal growths (e.g., hepatoblastoma, renal cell carcinoma, Wilm's tumor, and neuroblastoma) The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the aorta 90% Abnormality of the pharynx 90% Abnormality of the philtrum 90% Abnormality of the pulmonary valve 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the thymus 90% Atria septal defect 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Neurological speech impairment 90% Oral cleft 90% Premature birth 90% Prominent nasal bridge 90% Short stature 90% Telecanthus 90% Tetralogy of Fallot 90% Truncus arteriosus 90% Upslanted palpebral fissure 90% Ventricular septal defect 90% Acne 50% Anonychia 50% Aplasia/Hypoplasia of the earlobes 50% Aplastic/hypoplastic toenail 50% Attention deficit hyperactivity disorder 50% Carious teeth 50% Clinodactyly of the 5th finger 50% Constipation 50% Deeply set eye 50% External ear malformation 50% Hearing impairment 50% Hypocalcemia 50% Hypoparathyroidism 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Long face 50% Malar flattening 50% Microcephaly 50% Neoplasm of the nervous system 50% Otitis media 50% Overfolded helix 50% Pes planus 50% Pointed chin 50% Ptosis 50% Seborrheic dermatitis 50% Short neck 50% Thin vermilion border 50% Underdeveloped nasal alae 50% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of periauricular region 7.5% Abnormality of the aortic valve 7.5% Abnormality of the hip bone 7.5% Abnormality of the thorax 7.5% Abnormality of the tricuspid valve 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Arachnodactyly 7.5% Arthritis 7.5% Asthma 7.5% Atelectasis 7.5% Autism 7.5% Autoimmunity 7.5% Biliary tract abnormality 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Bowing of the long bones 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Choanal atresia 7.5% Chronic obstructive pulmonary disease 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Facial asymmetry 7.5% Feeding difficulties in infancy 7.5% Foot polydactyly 7.5% Gastrointestinal hemorrhage 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Holoprosencephaly 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Hypertensive crisis 7.5% Hyperthyroidism 7.5% Hypothyroidism 7.5% Intestinal malrotation 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Narrow mouth 7.5% Obsessive-compulsive behavior 7.5% Oculomotor apraxia 7.5% Optic atrophy 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Recurrent respiratory infections 7.5% Recurrent urinary tract infections 7.5% Renal hypoplasia/aplasia 7.5% Sandal gap 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short distal phalanx of finger 7.5% Spina bifida 7.5% Splenomegaly 7.5% Stereotypic behavior 7.5% Strabismus 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Venous insufficiency 7.5% Vesicoureteral reflux 7.5% Smooth philtrum 6/6 Intrauterine growth retardation 5/6 Highly arched eyebrow 4/5 Underdeveloped nasal alae 4/6 Pointed chin 3/5 Deeply set eye 3/6 Behavioral abnormality 2/6 Cleft palate 1/6 Truncus arteriosus 1/6 The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,22q11.2 deletion syndrome +What causes 22q11.2 deletion syndrome ?,"What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.",GARD,22q11.2 deletion syndrome +Is 22q11.2 deletion syndrome inherited ?,"Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion.",GARD,22q11.2 deletion syndrome +What is (are) Adenoameloblastoma ?,"Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.",GARD,Adenoameloblastoma +What causes Adenoameloblastoma ?,"What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth.",GARD,Adenoameloblastoma +What are the treatments for Adenoameloblastoma ?,"How might adenoameloblastoma be treated? Treatment may require the removal of the legion as well as the surrounding tissues. Once the treatment is complete, recurrence of the legion is very rare.",GARD,Adenoameloblastoma +What is (are) Idiopathic juxtafoveal retinal telangiectasia ?,"Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which enable sharp, daytime vision. In IJT, the telangiectasias cause fluid or crystal buildup and swelling, impairing reflection of light. This results in progressive vision loss. It may be congenital (present at birth) or can develop during the lifetime (acquired). The different types of IJT are distinguished by their features and treatment options. Laser photocoagulation maybe helpful in treating vision loss for individuals with certain types of IJT.",GARD,Idiopathic juxtafoveal retinal telangiectasia +What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ?,"What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient).",GARD,Idiopathic juxtafoveal retinal telangiectasia +What causes Idiopathic juxtafoveal retinal telangiectasia ?,"What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however, no specific gene has been proven to cause the condition. Researchers have considered that changes in the ATM gene may interact with other genes or environmental factors to predispose a person to developing IJT. Some researchers have speculated that diabetes, or pre-diabetes, may be associated with some cases of IJT. However, to our knowledge, this association has not been proven. Others have suggested there may be a developmental cause, such as abnormal formation of vessels in the eye, which could cause abnormalities of the vessels in adulthood. Certain types of IJT may occur in association with other conditions, including polycythemia (abnormal increase in blood volume), hypoglycemia, ulcerative colitis, multiple myeloma and chronic lymphatic leukemia.",GARD,Idiopathic juxtafoveal retinal telangiectasia +What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ?,"How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. Small ""bursts"" of the laser can be used to seal leaky blood vessels, destroy abnormal blood vessels, seal retinal tears, and destroy abnormal tissue in the back of the eye. Photocoagulation usually is not considered for people with people in Group 1B because of the closeness of the leakage to the fovea, and the good prognosis without treatment. It may benefit people in Group 2 but in most cases, the abnormal lesions are so close to the fovea that treatment is difficult.",GARD,Idiopathic juxtafoveal retinal telangiectasia +What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ?,"What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent eyebrow - Absent eyelashes - Alopecia - Autosomal dominant inheritance - Decreased subcutaneous fat - Epicanthus - Epidermal hyperkeratosis - Facial telangiectasia in butterfly midface distribution - Hydrocele testis - Hypotrichosis - Long nose - Mandibular prognathia - Membranoproliferative glomerulonephritis - Oval face - Palpebral edema - Prominent nasal bridge - Reduced subcutaneous adipose tissue - Renal insufficiency - Sparse eyebrow - Sparse eyelashes - Telangiectasia of extensor surfaces - Thick vermilion border - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glomerulonephritis with sparse hair and telangiectases +What are the symptoms of Frontometaphyseal dysplasia ?,"What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental morphology 90% Abnormality of frontal sinus 90% Abnormality of the metaphyses 90% Bowing of the long bones 90% Camptodactyly of finger 90% Craniofacial hyperostosis 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Abnormal form of the vertebral bodies 50% Abnormality of the palate 50% Accelerated skeletal maturation 50% Aplasia/Hypoplasia of the thumb 50% Arachnodactyly 50% Conductive hearing impairment 50% Elbow dislocation 50% Scoliosis 50% Sensorineural hearing impairment 50% Skeletal muscle atrophy 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the larynx 7.5% Abnormality of the urethra 7.5% Complete atrioventricular canal defect 7.5% Craniosynostosis 7.5% Tracheal stenosis 7.5% Ureteral stenosis 7.5% Ankle contracture - Antegonial notching of mandible - Anteriorly placed odontoid process - Broad phalanges of the hand - Coarse facial features - Coat hanger sign of ribs - Cor pulmonale - Coxa valga - Delayed eruption of teeth - Dental malocclusion - Elbow flexion contracture - Fused cervical vertebrae - Genu valgum - High palate - Hirsutism - Hydronephrosis - Hydroureter - Increased density of long bone diaphyses - Intellectual disability - Knee flexion contracture - Large foramen magnum - Long foot - Long phalanx of finger - Mitral valve prolapse - Partial fusion of carpals - Partial fusion of tarsals - Persistence of primary teeth - Pointed chin - Scapular winging - Selective tooth agenesis - Short chin - Stridor - Wide nasal bridge - Wrist flexion contracture - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frontometaphyseal dysplasia +What is (are) IBIDS syndrome ?,"Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy).",GARD,IBIDS syndrome +What are the symptoms of IBIDS syndrome ?,"What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,IBIDS syndrome +Is IBIDS syndrome inherited ?,"What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.",GARD,IBIDS syndrome +What are the treatments for IBIDS syndrome ?,"What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.",GARD,IBIDS syndrome +What are the symptoms of Selig Benacerraf Greene syndrome ?,"What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Congenital onset - Hypertelorism - Hypertension - Low-set ears - Oligohydramnios - Potter facies - Primary amenorrhea - Proteinuria - Pulmonary hypoplasia - Retrognathia - Talipes equinovarus - Vaginal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Selig Benacerraf Greene syndrome +What are the symptoms of Benign paroxysmal positional vertigo ?,"What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gait imbalance - Slow progression - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Benign paroxysmal positional vertigo +What is (are) Autoimmune autonomic ganglionopathy ?,"Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.",GARD,Autoimmune autonomic ganglionopathy +What are the symptoms of Autoimmune autonomic ganglionopathy ?,What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.,GARD,Autoimmune autonomic ganglionopathy +What causes Autoimmune autonomic ganglionopathy ?,"What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.",GARD,Autoimmune autonomic ganglionopathy +What are the treatments for Autoimmune autonomic ganglionopathy ?,"How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.",GARD,Autoimmune autonomic ganglionopathy +What is (are) Stuve-Wiedemann syndrome ?,"Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.",GARD,Stuve-Wiedemann syndrome +What are the symptoms of Stuve-Wiedemann syndrome ?,"What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the autonomic nervous system 90% Feeding difficulties in infancy 90% Hyperhidrosis 90% Hypohidrosis 90% Micromelia 90% Paresthesia 90% Short stature 90% Skeletal dysplasia 90% Apnea 50% Asthma 50% Camptodactyly of toe 50% Genu valgum 50% Impaired pain sensation 50% Intrauterine growth retardation 50% Lacrimation abnormality 50% Oligohydramnios 50% Recurrent fractures 50% Respiratory insufficiency 50% Scoliosis 50% Talipes 50% Hypothyroidism 7.5% Muscular hypotonia 7.5% Sacral dimple 7.5% Abnormal metaphyseal trabeculation - Abnormality of dental enamel - Absent patellar reflexes - Adducted thumb - Autosomal recessive inheritance - Blotching pigmentation of the skin - Broad ischia - Contracture of the proximal interphalangeal joint of the 5th finger - Dysautonomia - Dysphagia - Elbow flexion contracture - Episodic fever - Feeding difficulties - Femoral bowing - Flared metaphysis - Frontal bossing - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac body - Knee flexion contracture - Low-set ears - Malar flattening - Metaphyseal rarefaction - Myotonia - Nasal speech - Opacification of the corneal stroma - Osteoporosis - Pathologic fracture - Pulmonary arterial medial hypertrophy - Pulmonary hypertension - Pulmonary hypoplasia - Pursed lips - Short neck - Short nose - Short palpebral fissure - Short phalanx of finger - Short tibia - Single transverse palmar crease - Smooth tongue - Square face - Talipes valgus - Thickened cortex of long bones - Thin ribs - Thin skin - Tibial bowing - Ulnar deviation of finger - Wide nasal base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stuve-Wiedemann syndrome +What is (are) Lipodermatosclerosis ?,"Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.",GARD,Lipodermatosclerosis +What are the symptoms of Lipodermatosclerosis ?,What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas (atrophie blanche) Swelling Leg ulcers Tapering of the legs above the ankles,GARD,Lipodermatosclerosis +What causes Lipodermatosclerosis ?,"What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese.",GARD,Lipodermatosclerosis +How to diagnose Lipodermatosclerosis ?,How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may be used to obtain more information regarding the severity of the condition and to determine the best treatment approach.,GARD,Lipodermatosclerosis +What are the treatments for Lipodermatosclerosis ?,"How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended.",GARD,Lipodermatosclerosis +What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?,"What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +What is (are) Robinow syndrome ?,"Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene. Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.",GARD,Robinow syndrome +What are the symptoms of Robinow syndrome ?,"What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 97% Anteverted nares 95% Short nose 95% Abnormality of dental morphology 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Dental malocclusion 90% Downturned corners of mouth 90% Hypertelorism 90% Hypoplasia of penis 90% Malar flattening 90% Micromelia 90% Short distal phalanx of finger 90% Vertebral segmentation defect 90% Wide mouth 90% Small hand 84% Depressed nasal bridge 78% Bifid tongue 59% Long eyelashes 59% High palate 52% Abnormality of female external genitalia 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Abnormality of the ribs 50% Abnormality of thumb phalanx 50% Cryptorchidism 50% Elbow dislocation 50% Epicanthus 50% Frontal bossing 50% Gingival overgrowth 50% Hearing impairment 50% Kyphosis 50% Long palpebral fissure 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Otitis media 50% Pectus excavatum 50% Preaxial foot polydactyly 50% Proptosis 50% Scoliosis 50% Tented upper lip vermilion 50% Umbilical hernia 50% Upslanted palpebral fissure 50% Narrow palate 46% Low-set ears 45% Retrognathia 44% Nail dysplasia 35% Oral cleft 35% Rhizomelia 35% Short neck 31% Abnormality of the aorta 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the tricuspid valve 7.5% Alopecia 7.5% Atria septal defect 7.5% Blue sclerae 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Increased number of teeth 7.5% Multicystic kidney dysplasia 7.5% Pectus carinatum 7.5% Ptosis 7.5% Recurrent respiratory infections 7.5% Reduced number of teeth 7.5% Sacral dimple 7.5% Sandal gap 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Split hand 7.5% Strabismus 7.5% Synostosis of carpal bones 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Absent uvula - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of toe - Broad thumb - Broad toe - Clinodactyly - Clitoral hypoplasia - Delayed cranial suture closure - Delayed eruption of permanent teeth - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Duplication of the distal phalanx of hand - Flat face - Hydronephrosis - Hypoplasia of midface - Hypoplastic labia majora - Hypoplastic sacrum - Inguinal hernia - Intellectual disability - Macroglossia - Mesomelia - Micropenis - Missing ribs - Nevus flammeus - Posteriorly rotated ears - Radial deviation of finger - Renal duplication - Rib fusion - Right ventricular outlet obstruction - Short hard palate - Short middle phalanx of the 5th finger - Short palm - Thoracic hemivertebrae - Thoracolumbar scoliosis - Triangular mouth - Vertebral fusion - Wide anterior fontanel - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Robinow syndrome +Is Robinow syndrome inherited ?,"How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier. Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person. When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.",GARD,Robinow syndrome +How to diagnose Robinow syndrome ?,"Is genetic testing available for Robinow syndrome? Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause remains unknown. Carrier testing for autosomal recessive Robinow syndrome is possible if the disease-causing mutations have been identified in an affected family member. The Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Robinow syndrome +What is (are) Malaria ?,"Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.",GARD,Malaria +What are the symptoms of Malaria ?,"What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Malaria +What is (are) HTLV-1 associated myelopathy/tropical spastic paraparesis ?,"HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive disease of the nervous system that affects less than 2 percent of people with HTLV-1 infection. Signs and symptoms vary but may include progressive weakness, stiff muscles, muscle spasms, backache, a 'weak' bladder, and constipation. The HTLV-1 virus can be transmitted from mother to child via breastfeeding or childbirth, from person to person through sexual contact and through blood contact, either by transfusion or by reuse of injection equipment. HTLV infection is not passed from person to person by coughing, sneezing, kissing, cuddling or daily social contact. Screening of donated blood for HTLV-1 has been done in the United States since 1988.",GARD,HTLV-1 associated myelopathy/tropical spastic paraparesis +What are the symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis ?,What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache A 'weak' bladder Constipation Rarely HAM/TSP may cause: Uveitis Arthritis Inflammation of the lung Polymyositis Dry eyes (keratoconjunctivitis sicca) Skin inflammation (infectious dermatitis),GARD,HTLV-1 associated myelopathy/tropical spastic paraparesis +What are the treatments for HTLV-1 associated myelopathy/tropical spastic paraparesis ?,"How might HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) be treated? There is no established treatment program for HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine. Urinary dysfunction may be treated with oxybutynin.",GARD,HTLV-1 associated myelopathy/tropical spastic paraparesis +What is (are) SAPHO syndrome ?,"SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.",GARD,SAPHO syndrome +What are the symptoms of SAPHO syndrome ?,"What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SAPHO syndrome +What are the treatments for SAPHO syndrome ?,How might SAPHO syndrome be treated? There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne. Other drugs that may be used include: Colchicine Topical corticosteroids Systemic corticosteroids Methotrexate Calcitonin Bisphosphonates Infliximab Etanercept.,GARD,SAPHO syndrome +What are the symptoms of Leber congenital amaurosis 2 ?,"What are the signs and symptoms of Leber congenital amaurosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blindness - Cataract - Cerebellar vermis hypoplasia - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Intellectual disability - Keratoconus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 2 +What are the symptoms of Amyloidosis familial visceral ?,"What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cholestasis - Edema - Generalized amyloid deposition - Hematuria - Hepatomegaly - Hypertension - Nephropathy - Nephrotic syndrome - Proteinuria - Skin rash - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amyloidosis familial visceral +What are the symptoms of Corneodermatoosseous syndrome ?,"What are the signs and symptoms of Corneodermatoosseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneodermatoosseous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Anonychia 90% Brachydactyly syndrome 90% Carious teeth 90% Corneal dystrophy 90% Palmoplantar keratoderma 90% Photophobia 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Gingivitis 50% Premature birth 50% Hearing impairment 7.5% Nyctalopia 7.5% Abnormality of the teeth - Autosomal dominant inheritance - Erythroderma - Onycholysis - Palmoplantar hyperkeratosis - Short distal phalanx of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneodermatoosseous syndrome +What are the symptoms of Osteodysplasia familial Anderson type ?,"What are the signs and symptoms of Osteodysplasia familial Anderson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasia familial Anderson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormal nasal morphology 90% Abnormality of the clavicle 90% Abnormality of the femur 90% Depressed nasal ridge 90% Hypertension 90% Hyperuricemia 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Large earlobe 90% Malar flattening 90% Mandibular prognathia 90% Pointed chin 90% Recurrent fractures 90% Scoliosis 90% Thick eyebrow 90% Abnormal form of the vertebral bodies 50% Abnormality of the ribs 50% Carious teeth 50% Clinodactyly of the 5th finger 50% Elbow dislocation 7.5% Seizures 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteodysplasia familial Anderson type +What is (are) Niemann-Pick disease type A ?,"Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.",GARD,Niemann-Pick disease type A +What are the symptoms of Niemann-Pick disease type A ?,"What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Niemann-Pick disease type A +What are the treatments for Niemann-Pick disease type A ?,How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms: A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical therapists A gastroenterologist Learning specialists You can learn more about ongoing research efforts to better understand the natural history of this condition and identify treatment options in the Research section of our web page.,GARD,Niemann-Pick disease type A +What is (are) Wolffian tumor ?,"Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potential to become cancerous and tend to range from 0.8 to 25 centimeters in size. Surgery is the recommended treatment. In a small number of cases, recurrences or malignancy have been been reported. Close follow-up is advised.",GARD,Wolffian tumor +What is (are) Chromosome 6q deletion ?,"Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 6q deletion +"What is (are) Emery-Dreifuss muscular dystrophy, dominant type ?",,GARD,"Emery-Dreifuss muscular dystrophy, dominant type" +What are the symptoms of Brachydactyly type A4 ?,"What are the signs and symptoms of Brachydactyly type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short toe 90% Short stature 50% Symphalangism affecting the phalanges of the hand 50% Aplasia of the middle phalanges of the toes - Autosomal dominant inheritance - Congenital talipes calcaneovalgus - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - Type A brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly type A4 +What is (are) Freiberg's disease ?,"Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.",GARD,Freiberg's disease +What are the symptoms of Freiberg's disease ?,"What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people describe the sensation of walking on something hard, like a stone or a marble. Symptoms are generally triggered by weight-bearing activities, including walking. Occasionally, people with Freiberg's disease have no obvious symptoms of the condition, with changes noted only on X-rays taken for other purposes. Whether these people will later develop symptoms is not known.",GARD,Freiberg's disease +What causes Freiberg's disease ?,"What causes Freiberg's disease? The exact cause of Freiberg's disease is poorly understood. Some scientists believe that it is a multifactorial condition which is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. However, most current theories are centered on whether the triggering event is predominantly traumatic (injury-related) or vascular (consistent with avascular necrosis - an injury to the blood supply of the affected part of the foot).",GARD,Freiberg's disease +How to diagnose Freiberg's disease ?,"How is Freiberg's disease diagnosed? A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommended to rule out other conditions that cause similar features.",GARD,Freiberg's disease +What are the treatments for Freiberg's disease ?,"How might Freiberg's disease be treated? The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. A more conservative treatment approach is typically attempted initially which may include modification of activities with different types of casts, crutches and/or shoe inserts, as needed. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be recommended to manage pain. If other treatments are not effective, surgery may be necessary. Medscape Reference's Web site offers more specific information regarding the different surgical procedures used to treat Freiberg's disease. Please click on the link to access the resource.",GARD,Freiberg's disease +What are the symptoms of Bardet-Biedl syndrome 2 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 2 +What are the symptoms of Uhl anomaly ?,"What are the signs and symptoms of Uhl anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uhl anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocardium 90% Abnormality of the pulmonary artery 90% Autosomal dominant inheritance - Heterogeneous - Sudden cardiac death - Ventricular arrhythmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Uhl anomaly +What is (are) Pseudohypoaldosteronism type 2 ?,"Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide.",GARD,Pseudohypoaldosteronism type 2 +What are the symptoms of Pseudohypoaldosteronism type 2 ?,"What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoaldosteronism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperkalemia 90% Hypertension 90% Flexion contracture 50% Nausea and vomiting 50% Abnormality of dental enamel 7.5% Muscle weakness 7.5% Short stature 7.5% Autosomal dominant inheritance - Hyperchloremic acidosis - Periodic hyperkalemic paralysis - Pseudohypoaldosteronism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudohypoaldosteronism type 2 +What causes Pseudohypoaldosteronism type 2 ?,"What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis.",GARD,Pseudohypoaldosteronism type 2 +How to diagnose Pseudohypoaldosteronism type 2 ?,"How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.",GARD,Pseudohypoaldosteronism type 2 +What are the treatments for Pseudohypoaldosteronism type 2 ?,How might pseudohypoaldosteronism type 2 be treated? Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium.,GARD,Pseudohypoaldosteronism type 2 +What are the symptoms of Weyers acrofacial dysostosis ?,"What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental morphology 90% Abnormality of the fingernails 90% Advanced eruption of teeth 90% Hypoplastic toenails 90% Postaxial hand polydactyly 90% Reduced number of teeth 90% Short stature 90% Abnormality of the antihelix 50% Clinodactyly of the 5th finger 50% Facial cleft 50% Short palm 50% Autosomal dominant inheritance - Brachydactyly syndrome - Conical tooth - Hypotelorism - Mild short stature - Nail dysplasia - Postaxial foot polydactyly - Prominent antihelix - Small nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Weyers acrofacial dysostosis +What are the symptoms of Autosomal dominant optic atrophy plus syndrome ?,"What are the signs and symptoms of Autosomal dominant optic atrophy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Impaired pain sensation 90% Optic atrophy 90% Sensorineural hearing impairment 90% Abnormality of color vision 50% Visual impairment 50% Abnormality of visual evoked potentials 7.5% Decreased nerve conduction velocity 7.5% Strabismus 7.5% Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant optic atrophy plus syndrome +What is (are) Mondor disease ?,"Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most cases, the condition is benign and resolves on its own; however, Mondor disease can rarely be associated with breast cancer. Although the condition most commonly affects the chest, Mondor disease of other body parts (including the penis, groin, and abdomen) has been described, as well. Mondor disease is thought to occur when pressure or trauma on the veins causes blood to stagnate. In most cases, the condition arises after recent breast surgery, but it can also be associated with physical strain and/or tight-fitting clothing (i.e. bras). Treatments are available to help relieve symptoms until the condition resolves.",GARD,Mondor disease +What are the symptoms of Leucine-sensitive hypoglycemia of infancy ?,"What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Coma - Drowsiness - Hyperinsulinemic hypoglycemia - Hyperreflexia - Hypoglycemia - Intellectual disability - Irritability - Spasticity - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leucine-sensitive hypoglycemia of infancy +What are the symptoms of Odonto onycho dysplasia with alopecia ?,"What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypoplastic toenails 90% Microdontia 90% Palmoplantar keratoderma 90% Reduced number of teeth 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Odonto onycho dysplasia with alopecia +What is (are) Kyrle disease ?,"Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that eventually grow and form red-brown nodules with a central keratin (horny) plug. The lesions occur mostly on the legs but also develop on the arms and the head and neck region. They are not typically painful may cause intense itching (pruritus). The cause of the disease is unknown; some cases appear to be idiopathic (no known cause) or inherited. The aim of treatment is to treat the underlying disease if one is associated. Lesions may self-heal without any treatment, but new lesions usually develop. Treatments that have been used to treat and reduce lesions include isotretinoin, high dose vitamin A, and tretinoin cream; emollients (skin softening agents) and oral antihistamines may be useful in relieving pruritus.",GARD,Kyrle disease +What are the symptoms of Kyrle disease ?,"What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Posterior subcapsular cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kyrle disease +What causes Kyrle disease ?,"What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chronic renal failure, albuminuria, elevated serum creatinine, abnormal creatinine clearance, polyuria); hepatic abnormalities (alcoholic cirrhosis); and congestive heart failure. It has been thought that metabolic disorders associated with Kyrle disease are somehow responsible for development of abnormal keratinization and connective tissue changes, but the exact mechanism by which this happens is unclear.",GARD,Kyrle disease +What are the treatments for Kyrle disease ?,"How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, soothing antipruritic lotions containing menthol and camphor may be helpful. Sedating antihistamines such as hydroxyzine may also be helpful for pruritus, especially at night. Some improvement has been reported with high doses of vitamin A, with or without vitamin E. Topical retinoic acid cream may also improve the symptoms. Another approach to treatment uses oral retinoids, which resulted in alleviation of symptoms in one study. Etretinate in high doses is also reportedly effective, but relapse has been reported following discontinuation of therapy. UV light therapy is reportedly particularly helpful for individuals with widespread lesions or coexisting pruritus from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for limited lesions, but caution may be recommended for individuals with dark skin, especially with cryosurgery, and for lesions on the lower legs, particularly in patients with diabetes mellitus or poor circulation.",GARD,Kyrle disease +What is (are) Carney complex ?,"Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.",GARD,Carney complex +What are the symptoms of Carney complex ?,"What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carney complex +What is (are) Pantothenate kinase-associated neurodegeneration ?,"Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.",GARD,Pantothenate kinase-associated neurodegeneration +What are the symptoms of Pantothenate kinase-associated neurodegeneration ?,"What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time. People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms. Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average. Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form. The Human Phenotype Ontology provides the following list of signs and symptoms for Pantothenate kinase-associated neurodegeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Gait disturbance 90% Neurological speech impairment 90% Abnormality of the cranial nerves 50% Abnormality of the foot 50% Chorea 50% Constipation 50% Feeding difficulties in infancy 50% Hyperreflexia 50% Hypertonia 50% Recurrent respiratory infections 50% Tremor 50% Weight loss 50% Abnormal joint morphology 7.5% Developmental regression 7.5% Seizures 7.5% Visual impairment 7.5% Abnormal pyramidal signs - Acanthocytosis - Akinesia - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blepharospasm - Bradykinesia - Cerebral degeneration - Choreoathetosis - Decreased muscle mass - Dementia - Depression - Dysarthria - Dysphagia - Dysphonia - Eye of the tiger anomaly of globus pallidus - Eyelid apraxia - Facial grimacing - Global brain atrophy - Hyperactivity - Hyperpigmentation of the skin - Motor tics - Myopathy - Neurodegeneration - Obsessive-compulsive trait - Optic atrophy - Orofacial dyskinesia - Parkinsonism - Pigmentary retinopathy - Rapidly progressive - Retinal degeneration - Rigidity - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pantothenate kinase-associated neurodegeneration +What are the treatments for Pantothenate kinase-associated neurodegeneration ?,"How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.",GARD,Pantothenate kinase-associated neurodegeneration +What are the symptoms of Chromosome 17q11.2 deletion syndrome ?,"What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 17q11.2 deletion syndrome +What is (are) Erdheim-Chester disease ?,"Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.",GARD,Erdheim-Chester disease +What are the symptoms of Erdheim-Chester disease ?,"What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Erdheim-Chester disease +What causes Erdheim-Chester disease ?,"What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.",GARD,Erdheim-Chester disease +What is (are) Split hand split foot malformation autosomal recessive ?,"Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.",GARD,Split hand split foot malformation autosomal recessive +What are the symptoms of SeSAME syndrome ?,"What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SeSAME syndrome +What are the symptoms of Dandy-Walker malformation with facial hemangioma ?,"What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cavernous hemangioma 90% Cognitive impairment 90% Dandy-Walker malformation 90% Median cleft lip 90% Microcephaly 90% Seizures 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dandy-Walker malformation with facial hemangioma +What is (are) Hemochromatosis ?,"Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.",GARD,Hemochromatosis +What are the symptoms of Hemochromatosis ?,"What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemochromatosis +What causes Hemochromatosis ?,"What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.",GARD,Hemochromatosis +Is Hemochromatosis inherited ?,"Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. Type 4 is inherited in an autosomal dominant manner. This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent. Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.",GARD,Hemochromatosis +What are the symptoms of Spinocerebellar ataxia 21 ?,"What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Aggressive behavior - Akinesia - Apathy - Autosomal dominant inheritance - Cerebellar atrophy - Cognitive impairment - Cogwheel rigidity - Dysarthria - Dysgraphia - Gait ataxia - Hyporeflexia - Impulsivity - Intellectual disability - Limb ataxia - Microsaccadic pursuit - Parkinsonism - Postural tremor - Progressive cerebellar ataxia - Scanning speech - Slow progression - Slow saccadic eye movements - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 21 +What are the symptoms of Morquio syndrome B ?,"What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Morquio syndrome B +What is (are) Chromosome 16q deletion ?,"Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.",GARD,Chromosome 16q deletion +What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ?,"What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anemia sideroblastic and spinocerebellar ataxia +What are the symptoms of SCARF syndrome ?,"What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,SCARF syndrome +What is (are) Mercury poisoning ?,"Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed.",GARD,Mercury poisoning +What are the symptoms of Chudley-Mccullough syndrome ?,"What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability, mild 5% Seizures 5% Arachnoid cyst - Autosomal recessive inheritance - Cerebellar dysplasia - Cerebellar hypoplasia - Dysplastic corpus callosum - Gray matter heterotopias - Hydrocephalus - Hypoplasia of the corpus callosum - Large foramen magnum - Partial agenesis of the corpus callosum - Polymicrogyria - Severe sensorineural hearing impairment - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chudley-Mccullough syndrome +What is (are) Warthin tumor ?,"Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time.",GARD,Warthin tumor +What are the symptoms of Warthin tumor ?,"What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% of affected people experience multicentric (more than one tumor which formed separately from one another) disease. The first symptom is usually a firm, painless bump. Without treatment, the swelling may gradually increase overtime which can cause facial nerve palsy (difficulty moving one side of the face).",GARD,Warthin tumor +What causes Warthin tumor ?,"What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.",GARD,Warthin tumor +How to diagnose Warthin tumor ?,"How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sialogram) CT scan, MRI and/or ultrasound Salivary gland biopsy",GARD,Warthin tumor +What are the treatments for Warthin tumor ?,"How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.",GARD,Warthin tumor +What are the symptoms of Karak syndrome ?,"What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Cerebral atrophy - Chorea - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Dystonia - Emotional lability - Feeding difficulties - Gait ataxia - Hyperactivity - Impaired smooth pursuit - Impulsivity - Intention tremor - Mental deterioration - Neurodegeneration - Neurofibrillary tangles - Nystagmus - Optic atrophy - Phenotypic variability - Progressive - Seizures - Short attention span - Spasticity - Talipes calcaneovalgus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Karak syndrome +What are the symptoms of Dystonia 11 ?,"What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 11 +What is (are) Sotos syndrome ?,"Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).",GARD,Sotos syndrome +What are the symptoms of Sotos syndrome ?,"What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sotos syndrome +Is Sotos syndrome inherited ?,"How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.",GARD,Sotos syndrome +What are the symptoms of Acrorenal mandibular syndrome ?,"What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the radius 90% Renal hypoplasia/aplasia 90% Split foot 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the lungs 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Oligohydramnios 50% Pectus carinatum 50% Short neck 50% Abnormal form of the vertebral bodies 7.5% Abnormal lung lobation 7.5% Aplasia/Hypoplasia of the tongue 7.5% Congenital diaphragmatic hernia 7.5% Finger syndactyly 7.5% Kyphosis 7.5% Narrow face 7.5% Oral cleft 7.5% Scoliosis 7.5% Short philtrum 7.5% Sprengel anomaly 7.5% Tracheoesophageal fistula 7.5% Abnormal sacral segmentation - Abnormality of the cardiovascular system - Abnormality of the ureter - Absent nipple - Autosomal recessive inheritance - Bicornuate uterus - Butterfly vertebrae - Dolichocephaly - Elbow flexion contracture - Epicanthus - Foot polydactyly - Hand polydactyly - Hemivertebrae - High palate - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic scapulae - Kyphoscoliosis - Low-set ears - Missing ribs - Narrow chest - Narrow palate - Polycystic kidney dysplasia - Posteriorly rotated ears - Pulmonary hypoplasia - Renal agenesis - Rudimentary fibula - Rudimentary to absent tibiae - Thin ribs - Toe syndactyly - Uterus didelphys - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrorenal mandibular syndrome +What are the symptoms of Fibular hypoplasia and complex brachydactyly ?,"What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the thumb 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Brachydactyly syndrome 90% Fibular aplasia 90% Limitation of joint mobility 90% Micromelia 90% Narrow nasal bridge 90% Short stature 90% Single transverse palmar crease 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Absent toe 50% Deformed tarsal bones 50% Deviation of finger 50% Malaligned carpal bone 50% Patellar dislocation 50% Short metacarpal 50% Short metatarsal 50% Short phalanx of finger 50% Small nail 50% Rhizomelia 33% Talipes equinovalgus 33% Aplastic/hypoplastic toenail - Autosomal recessive inheritance - Fibular hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fibular hypoplasia and complex brachydactyly +What is (are) Antisynthetase syndrome ?,"Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.",GARD,Antisynthetase syndrome +What are the symptoms of Antisynthetase syndrome ?,"What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Antisynthetase syndrome +What causes Antisynthetase syndrome ?,"What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known.",GARD,Antisynthetase syndrome +How to diagnose Antisynthetase syndrome ?,"How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy",GARD,Antisynthetase syndrome +What are the treatments for Antisynthetase syndrome ?,"What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.",GARD,Antisynthetase syndrome +What is (are) Congenital pulmonary alveolar proteinosis ?,"Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.",GARD,Congenital pulmonary alveolar proteinosis +What are the symptoms of Congenital pulmonary alveolar proteinosis ?,"What are the signs and symptoms of Congenital pulmonary alveolar proteinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary alveolar proteinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Alveolar proteinosis - Apnea - Autosomal recessive inheritance - Clubbing - Cyanosis - Desquamative interstitial pneumonitis - Dyspnea - Failure to thrive - Heterogeneous - Interstitial pulmonary disease - Pulmonary hypertension - Rapidly progressive - Respiratory distress - Respiratory failure - Tachypnea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital pulmonary alveolar proteinosis +"What are the symptoms of Cardiac valvular dysplasia, X-linked ?","What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Aortic regurgitation - Congestive heart failure - Mitral regurgitation - Mitral valve prolapse - Short chordae tendineae of the mitral valve - Short chordae tendineae of the tricuspid valve - Tricuspid regurgitation - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cardiac valvular dysplasia, X-linked" +What are the symptoms of Thompson Baraitser syndrome ?,"What are the signs and symptoms of Thompson Baraitser syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thompson Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thompson Baraitser syndrome +What are the symptoms of Gorlin Bushkell Jensen syndrome ?,"What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gorlin Bushkell Jensen syndrome +What is (are) Glioblastoma ?,"Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.",GARD,Glioblastoma +What are the symptoms of Glioblastoma ?,What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures,GARD,Glioblastoma +What causes Glioblastoma ?,"What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene.",GARD,Glioblastoma +Is Glioblastoma inherited ?,"Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. All of these conditions are inherited in an autosomal dominant manner.",GARD,Glioblastoma +How to diagnose Glioblastoma ?,"Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblastoma such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is glioblastoma diagnosed? Glioblastoma is typically diagnosed based on a physical exam that identifies characteristic symptoms and various imaging studies such as computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. These imaging studies will also provide information regarding the size of the tumor and which parts of the brain are affected. Surgical removal of the tumor or a small biopsy may confirm the diagnosis.",GARD,Glioblastoma +What are the treatments for Glioblastoma ?,"How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.",GARD,Glioblastoma +What is (are) Goldberg-Shprintzen megacolon syndrome ?,"Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.",GARD,Goldberg-Shprintzen megacolon syndrome +What are the symptoms of Goldberg-Shprintzen megacolon syndrome ?,"What are the signs and symptoms of Goldberg-Shprintzen megacolon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Goldberg-Shprintzen megacolon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Cleft palate 90% Cognitive impairment 90% Microcephaly 90% Short stature 90% Iris coloboma 50% Muscular hypotonia 50% Ptosis 50% Abnormal hair quantity 7.5% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Macrotia 7.5% Pointed chin 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% Autosomal recessive inheritance - Blue sclerae - Bulbous nose - Clinodactyly - Corneal erosion - Corneal ulceration - Highly arched eyebrow - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Megalocornea - Pachygyria - Polymicrogyria - Prominent nasal bridge - Short neck - Short philtrum - Small hand - Sparse hair - Synophrys - Tapered finger - Telecanthus - Thick eyebrow - Thick vermilion border - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Goldberg-Shprintzen megacolon syndrome +What is (are) Occipital horn syndrome ?,"Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.",GARD,Occipital horn syndrome +What are the symptoms of Occipital horn syndrome ?,"What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Occipital horn syndrome +How to diagnose Occipital horn syndrome ?,Is genetic testing available for occipital horn syndrome?,GARD,Occipital horn syndrome +What is (are) Frontotemporal dementia ?,"Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). Spatial skills and memory remain intact. There is a strong genetic component to the disease; it often runs in families. There is no cure for frontotemporal dementia at this time, as a result treatment remains supportive. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. You can click on the links to view the GARD pages on these conditions.",GARD,Frontotemporal dementia +What are the symptoms of Frontotemporal dementia ?,"What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Apathy - Autosomal dominant inheritance - Disinhibition - Frontal lobe dementia - Frontotemporal dementia - Hyperorality - Inappropriate laughter - Inappropriate sexual behavior - Irritability - Language impairment - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Polyphagia - Primitive reflexes (palmomental, snout, glabellar) - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Frontotemporal dementia +What are the symptoms of Trichothiodystrophy photosensitive ?,"What are the signs and symptoms of Trichothiodystrophy photosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy photosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trichothiodystrophy photosensitive +What is (are) Pseudohypoparathyroidism ?,"Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2",GARD,Pseudohypoparathyroidism +What is (are) Aquagenic pruritus ?,"Aquagenic pruritus is a condition in which contact with water of any temperature causes intense itching without any visible skin changes. The symptoms may begin immediately after contact with water and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. The symptoms of the condition are similar to those seen in patients with other conditions; therefore, a thorough evaluation should be performed to rule out other more serious conditions. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying success.",GARD,Aquagenic pruritus +What are the symptoms of Aquagenic pruritus ?,"What symptoms are observed in patients who have aquagenic pruritus? Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water without an associated rash. The head, palms, soles, and mucosa are usually not affected.",GARD,Aquagenic pruritus +What causes Aquagenic pruritus ?,"What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.",GARD,Aquagenic pruritus +How to diagnose Aquagenic pruritus ?,"How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera.",GARD,Aquagenic pruritus +What are the treatments for Aquagenic pruritus ?,"What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.",GARD,Aquagenic pruritus +What is (are) Costello syndrome ?,"Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Costello syndrome +What are the symptoms of Costello syndrome ?,"What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Abnormality of the pulmonary valve 90% Acanthosis nigricans 90% Cutis laxa 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hyperkeratosis 90% Lack of skin elasticity 90% Macrocephaly 90% Short neck 90% Short stature 90% Ventricular septal defect 90% Woolly hair 90% Abnormal dermatoglyphics 50% Abnormal tendon morphology 50% Abnormality of the mitral valve 50% Abnormality of the tongue 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Cryptorchidism 50% Decreased corneal thickness 50% Epicanthus 50% Full cheeks 50% Hypertrophic cardiomyopathy 50% Hypoplastic toenails 50% Joint hypermobility 50% Polyhydramnios 50% Strabismus 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% Ulnar deviation of finger 50% Verrucae 50% Coarse facial features 7.5% Feeding difficulties in infancy 7.5% Generalized hyperpigmentation 7.5% Large earlobe 7.5% Large face 7.5% Low-set, posteriorly rotated ears 7.5% Renal insufficiency 5% Achilles tendon contracture - Anteverted nares - Arnold-Chiari type I malformation - Arrhythmia - Atria septal defect - Autosomal dominant inheritance - Barrel-shaped chest - Bladder carcinoma - Bronchomalacia - Cerebral atrophy - Concave nail - Curly hair - Deep palmar crease - Deep plantar creases - Deep-set nails - Enlarged cerebellum - Failure to thrive - Fragile nails - High palate - Hoarse voice - Hydrocephalus - Hyperextensibility of the finger joints - Hyperpigmentation of the skin - Hypertelorism - Hypoglycemia - Intellectual disability - Limited elbow movement - Low-set ears - Macroglossia - Mitral valve prolapse - Nevus - Obstructive sleep apnea - Overgrowth - Pectus carinatum - Pneumothorax - Pointed chin - Poor suck - Posteriorly rotated ears - Premature birth - Ptosis - Pulmonic stenosis - Pyloric stenosis - Redundant neck skin - Respiratory failure - Rhabdomyosarcoma - Sparse hair - Sporadic - Sudden death - Talipes equinovarus - Thin nail - Tracheomalacia - Ventriculomegaly - Vestibular Schwannoma - Webbed neck - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Costello syndrome +What are the symptoms of Sillence syndrome ?,"What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sillence syndrome +What are the symptoms of Bardet-Biedl syndrome 11 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 11 +What is (are) Osteopetrosis autosomal recessive 5 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal recessive 5 +What are the symptoms of Osteopetrosis autosomal recessive 5 ?,"What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal recessive 5 +What are the symptoms of Loeys-Dietz syndrome type 4 ?,"What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Loeys-Dietz syndrome type 4 +What is (are) Fine-Lubinsky syndrome ?,"Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.",GARD,Fine-Lubinsky syndrome +What are the symptoms of Fine-Lubinsky syndrome ?,"What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fine-Lubinsky syndrome +What causes Fine-Lubinsky syndrome ?,"What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.",GARD,Fine-Lubinsky syndrome +Is Fine-Lubinsky syndrome inherited ?,"How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.",GARD,Fine-Lubinsky syndrome +How to diagnose Fine-Lubinsky syndrome ?,"How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.",GARD,Fine-Lubinsky syndrome +What is (are) Lynch syndrome ?,"Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.",GARD,Lynch syndrome +What are the symptoms of Lynch syndrome ?,"What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lynch syndrome +What causes Lynch syndrome ?,"What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.",GARD,Lynch syndrome +Is Lynch syndrome inherited ?,"Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.",GARD,Lynch syndrome +How to diagnose Lynch syndrome ?,"How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here.",GARD,Lynch syndrome +What is (are) Multicentric reticulohistiocytosis ?,"Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.",GARD,Multicentric reticulohistiocytosis +What are the symptoms of Multicentric reticulohistiocytosis ?,"What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients. It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans. The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be. Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the oral cavity 90% Abnormality of the skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multicentric reticulohistiocytosis +What are the treatments for Multicentric reticulohistiocytosis ?,"How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.",GARD,Multicentric reticulohistiocytosis +What is (are) Portal hypertension ?,"Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety of conditions, but cirrhosis is the most common cause in Western countries. Treatment is generally directed toward the cause of the condition, although emergency treatment is sometimes needed for serious complications.",GARD,Portal hypertension +What is (are) ADNP syndrome ?,"ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]",GARD,ADNP syndrome +What are the symptoms of ADNP syndrome ?,"What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ADNP syndrome +What is (are) Colpocephaly ?,Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.,GARD,Colpocephaly +What are the symptoms of Colpocephaly ?,"What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.",GARD,Colpocephaly +What causes Colpocephaly ?,"What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.",GARD,Colpocephaly +What are the treatments for Colpocephaly ?,"How might colpocephaly be treated? There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.",GARD,Colpocephaly +What is (are) Hemophagocytic lymphohistiocytosis ?,"Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition.",GARD,Hemophagocytic lymphohistiocytosis +What are the symptoms of Hemophagocytic lymphohistiocytosis ?,"What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hemophagocytic lymphohistiocytosis +What causes Hemophagocytic lymphohistiocytosis ?,"What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. The genetic cause of familial HLH, type 1 is currently unknown. Familial HLH, type 2 is caused by mutations in the PRF1 gene. Familial HLH, type 3 is caused by mutations in the UNC13D gene. Familial HLH, type 4 is caused by mutations in the STX11 gene. Familial HLH, type 5 is caused by mutations in the STXBP2 gene. All of the genes that cause HLH serve as the instructions for proteins that help destroy or turn off activated immune cells that are no longer needed. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH. The acquired causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.",GARD,Hemophagocytic lymphohistiocytosis +Is Hemophagocytic lymphohistiocytosis inherited ?,"Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.",GARD,Hemophagocytic lymphohistiocytosis +How to diagnose Hemophagocytic lymphohistiocytosis ?,"Is genetic testing available for hemophagocytic lymphohistiocytosis? Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. Molecular genetic testing is not available for familial hemophagocytic lymphohistiocytosis, type 1 because the genetic cause is currently unknown. Genetic testing is not available for acquired HLH because it is caused by non-genetic factors. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is hemophagocytic lymphohistiocytosis diagnosed? A diagnosis of hemophagocytic lymphohistiocytosis (HLH) is based on the presence of certain signs and symotoms. A person is considered affected by this condition if they have at least five of the following symptoms: Fever Enlarged spleen Cytopenia (lower-than-normal number of blood cells) Elevated levels of triglycerides or fibrinogen in the blood Hemophagocytosis (the destruction of certain types of blood cells by histiocytes) on bone marrow, spleen or lymph node biopsy Decreased or absent NK cell activity High levels of ferritin in the blood Elevated blood levels of CD25 (a measure of prolonged immune cell activation) The diagnosis of familial HLH, types 2-5 can be confirmed with genetic testing.",GARD,Hemophagocytic lymphohistiocytosis +What are the treatments for Hemophagocytic lymphohistiocytosis ?,"How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the underlying condition. For example, antiobiotics or antiviral medications can be used to treat or prevent infections that may have triggered the exaggerated immune response. Allogeneic hematopoietic cell transplantation is considered a cure for familial HLH. It is often recommended that people with confirmed or suspected familial HLH undergo this treatment as early in life as possible. Prior to hematopoietic cell transplanation, affected people are usually treated with chemotherapy and/or immunotherapy to destroy excess immune cells which can lead to life-threatening inflammation.",GARD,Hemophagocytic lymphohistiocytosis +What is (are) Glucose transporter type 1 deficiency syndrome ?,"Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the ""non-epileptic"" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes (mutations) in the SLC2A1 gene and is inherited in an autosomal dominant manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms.",GARD,Glucose transporter type 1 deficiency syndrome +What are the symptoms of Glucose transporter type 1 deficiency syndrome ?,"What are the signs and symptoms of Glucose transporter type 1 deficiency syndrome? The most common form of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome), called the classic type, may be characterized by: Recurrent seizures (epilepsy) beginning in the first months of life Microcephaly (unusually small head size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i.e. involuntary eye movements, spasticity, ataxia, dystonia) Behavioral problems Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches). Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures. The Human Phenotype Ontology provides the following list of signs and symptoms for Glucose transporter type 1 deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 75% Autosomal recessive inheritance 5% Abnormality of metabolism/homeostasis - Ataxia - Autosomal dominant inheritance - Babinski sign - Choreoathetosis - Confusion - Delayed speech and language development - Dysarthria - EEG abnormality - Hemiparesis - Hyperreflexia - Hypoglycorrhachia - Infantile onset - Intellectual disability - Myoclonus - Paralysis - Paroxysmal dystonia - Paroxysmal involuntary eye movements - Paroxysmal lethargy - Phenotypic variability - Postnatal microcephaly - Sleep disturbance - Spasticity - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glucose transporter type 1 deficiency syndrome +What causes Glucose transporter type 1 deficiency syndrome ?,What causes glucose transporter type 1 deficiency syndrome? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is caused by changes (mutations) in the SLC2A1 gene. This gene encodes a protein that helps transport glucose (a simple sugar) into cells where it is used as fuel. The protein is particularly important in the central nervous system since glucose is the brain's main source of energy. SLC2A1 mutations impair the function of the protein. This significantly reduces the amount of glucose available to brain cells leading to the many signs and symptoms associated with GLUT1 deficiency syndrome.,GARD,Glucose transporter type 1 deficiency syndrome +Is Glucose transporter type 1 deficiency syndrome inherited ?,"Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GLUT1 deficiency syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Glucose transporter type 1 deficiency syndrome +How to diagnose Glucose transporter type 1 deficiency syndrome ?,"How is glucose transporter type 1 deficiency syndrome diagnosed? A diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a lumbar puncture, specialized blood tests to measure the blood concentration of glucose and genetic testing.",GARD,Glucose transporter type 1 deficiency syndrome +What are the treatments for Glucose transporter type 1 deficiency syndrome ?,"How might glucose transporter type 1 deficiency syndrome be treated? There is currently no cure for glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome); however, a special diet (called a ketogenic diet) may help control symptoms in some affected people. The GLUT1 Deficiency Foundation offers an information page with detailed information regarding the ketogenic diet. Please click on the link to access this resource.",GARD,Glucose transporter type 1 deficiency syndrome +What are the symptoms of Dyssegmental dysplasia Silverman-Handmaker type ?,"What are the signs and symptoms of Dyssegmental dysplasia Silverman-Handmaker type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssegmental dysplasia Silverman-Handmaker type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metaphyses 90% Blue sclerae 90% Bowing of the long bones 90% Limitation of joint mobility 90% Micromelia 90% Narrow chest 90% Short stature 90% Atria septal defect 50% Cleft palate 50% Depressed nasal ridge 50% Respiratory insufficiency 50% Umbilical hernia 50% Abnormality of the abdominal wall - Anisospondyly - Autosomal recessive inheritance - Cryptorchidism - Disproportionate short-limb short stature - Flat face - Malar flattening - Narrow mouth - Neonatal death - Overgrowth - Posteriorly rotated ears - Pulmonary hypoplasia - Skull defect - Talipes equinovarus - Thoracic hypoplasia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyssegmental dysplasia Silverman-Handmaker type +What is (are) Biotinidase deficiency ?,"Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.",GARD,Biotinidase deficiency +What are the symptoms of Biotinidase deficiency ?,"What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications. Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Biotinidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 90% Seizures 90% Alopecia 50% Dry skin 50% Hearing impairment 50% Incoordination 50% Inflammatory abnormality of the eye 50% Optic atrophy 50% Skin rash 50% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Hypertonia 7.5% Muscle weakness 7.5% Myopia 7.5% Reduced consciousness/confusion 7.5% Respiratory insufficiency 7.5% Skin ulcer 7.5% Visual field defect 7.5% Apnea - Ataxia - Autosomal recessive inheritance - Conjunctivitis - Diarrhea - Diffuse cerebellar atrophy - Diffuse cerebral atrophy - Feeding difficulties in infancy - Hepatomegaly - Hyperammonemia - Lethargy - Metabolic ketoacidosis - Organic aciduria - Recurrent skin infections - Seborrheic dermatitis - Sensorineural hearing impairment - Splenomegaly - Tachypnea - Visual loss - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Biotinidase deficiency +What is (are) Plasma cell leukemia ?,"Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers. Different types of treatments are available for patients with PCL. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. For detailed information on the available treatment options, please visit the following link. http://www.cancer.gov/cancertopics/pdq/treatment/myeloma/Patient/page4",GARD,Plasma cell leukemia +What is (are) Autoimmune polyglandular syndrome type 1 ?,"Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.",GARD,Autoimmune polyglandular syndrome type 1 +What are the symptoms of Autoimmune polyglandular syndrome type 1 ?,"What are the signs and symptoms of Autoimmune polyglandular syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calcium-phosphate metabolism 90% Abnormality of the cerebral vasculature 90% Abnormality of the fingernails 90% Autoimmunity 90% Hypercortisolism 90% Hypoparathyroidism 90% Opacification of the corneal stroma 90% Photophobia 90% Primary adrenal insufficiency 90% Visual impairment 90% Cataract 50% Abnormal hair quantity 7.5% Cerebral calcification 7.5% Hypopigmented skin patches 7.5% Alopecia - Anemia - Asplenia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cholelithiasis - Chronic active hepatitis - Chronic atrophic gastritis - Chronic mucocutaneous candidiasis - Diarrhea - Female hypogonadism - Hypoplasia of dental enamel - Juvenile onset - Keratoconjunctivitis - Malabsorption - Type I diabetes mellitus - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autoimmune polyglandular syndrome type 1 +What are the symptoms of Annular pancreas ?,"What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Duodenal stenosis 90% Abnormality of the gastric mucosa 50% Annular pancreas - Autosomal dominant inheritance - High intestinal obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Annular pancreas +What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ?,"What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Ankle clonus - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Cerebellar atrophy - Clonus - Congenital onset - Decreased body weight - Dilated fourth ventricle - Dystonia - Esotropia - Flexion contracture - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Neurological speech impairment - Nonprogressive - Oculomotor apraxia - Optic atrophy - Short stature - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia autosomal recessive 5 +What are the symptoms of Familial hypocalciuric hypercalcemia type 3 ?,"What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nephrolithiasis 5% Peptic ulcer 5% Chondrocalcinosis - Hypercalcemia - Hypermagnesemia - Hypocalciuria - Multiple lipomas - Pancreatitis - Parathormone-independent increased renal tubular calcium reabsorption - Primary hyperparathyroidism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hypocalciuric hypercalcemia type 3 +What is (are) Trisomy 2 mosaicism ?,"Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects. Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you.",GARD,Trisomy 2 mosaicism +What is (are) C1q nephropathy ?,"C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys. It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease. As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus. Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity.",GARD,C1q nephropathy +What are the symptoms of Seminoma ?,"What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Seminoma +What is (are) Epithelioid sarcoma ?,"Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It may also be found in the legs, trunk, head or neck regions. It is rare in young children and adults, and it occurs more frequently in men. Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis). Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision). Amputation of part of the affected limb may be needed in severe cases. Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery.",GARD,Epithelioid sarcoma +What are the symptoms of Dens in dente and palatal invaginations ?,"What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dens in dente - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dens in dente and palatal invaginations +What are the symptoms of Quebec platelet disorder ?,"What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Impaired epinephrine-induced platelet aggregation - Joint hemorrhage - Menorrhagia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Quebec platelet disorder +What is (are) Stargardt disease ?,"Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.",GARD,Stargardt disease +What are the symptoms of Stargardt disease ?,"What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bull's eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stargardt disease +Is Stargardt disease inherited ?,"How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier. A child of an affected person can be affected if the other parent is also affected or is a carrier. In rare cases, Stargardt disease may be inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.",GARD,Stargardt disease +How to diagnose Stargardt disease ?,"Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.",GARD,Stargardt disease +What are the treatments for Stargardt disease ?,"How might Stargardt disease be treated? At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA). You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.",GARD,Stargardt disease +"What are the symptoms of Nystagmus 1, congenital, X- linked ?","What are the signs and symptoms of Nystagmus 1, congenital, X- linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 1, congenital, X- linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital nystagmus - Heterogeneous - Horizontal nystagmus - Infantile onset - Pendular nystagmus - Reduced visual acuity - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Nystagmus 1, congenital, X- linked" +What is (are) Kaposi sarcoma ?,"Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.",GARD,Kaposi sarcoma +What are the symptoms of Kaposi sarcoma ?,"What are the signs and symptoms of Kaposi sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaposi sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Chest pain 50% Abnormal blistering of the skin 7.5% Abnormal immunoglobulin level 7.5% Abnormality of temperature regulation 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Arthritis 7.5% Ascites 7.5% Diabetes mellitus 7.5% Erectile abnormalities 7.5% Generalized hyperpigmentation 7.5% Glomerulopathy 7.5% Gynecomastia 7.5% Hypertrichosis 7.5% Hypothyroidism 7.5% Lymphadenopathy 7.5% Lymphedema 7.5% Peripheral neuropathy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Secondary amenorrhea 7.5% Skin rash 7.5% Subcutaneous hemorrhage 7.5% Tapered finger 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Autosomal dominant inheritance - Edema - Hypermelanotic macule - Neoplasm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kaposi sarcoma +What are the symptoms of Corneal dystrophy of Bowman layer type 1 ?,"What are the signs and symptoms of Corneal dystrophy of Bowman layer type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy of Bowman layer type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Corneal dystrophy - Corneal erosion - Opacification of the corneal stroma - Photophobia - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Corneal dystrophy of Bowman layer type 1 +What is (are) Chromosome 9 inversion ?,"Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. The p arm is always on the top and the q arm is on the bottom. Chromosome 9 inversion is when there are two breaks on chromosome 9. The segment between the breakpoints flips around and reinserts back into the same place on chromosome 9. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. Chromosome 9 inversions commonly occur as a pericentric inversion.",GARD,Chromosome 9 inversion +What are the symptoms of Familial eosinophilia ?,"What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Eosinophilia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial eosinophilia +What are the symptoms of Dyskeratosis congenita autosomal dominant ?,"What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Ataxia - Autosomal dominant inheritance - Cerebellar hypoplasia - Dermal atrophy - Interstitial pneumonitis - Lymphopenia - Myelodysplasia - Nail dystrophy - Nail pits - Oral leukoplakia - Osteoporosis - Phenotypic variability - Premature loss of teeth - Pulmonary fibrosis - Reticular hyperpigmentation - Ridged nail - Sparse hair - Specific learning disability - Squamous cell carcinoma of the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dyskeratosis congenita autosomal dominant +"What are the symptoms of Tremor hereditary essential, 2 ?","What are the signs and symptoms of Tremor hereditary essential, 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremor hereditary essential, 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Upper limb postural tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Tremor hereditary essential, 2" +What is (are) Retinal vasculopathy with cerebral leukodystrophy ?,"Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).",GARD,Retinal vasculopathy with cerebral leukodystrophy +What are the symptoms of Retinal vasculopathy with cerebral leukodystrophy ?,"What are the signs and symptoms of Retinal vasculopathy with cerebral leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal vasculopathy with cerebral leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinal vasculopathy with cerebral leukodystrophy +What is (are) Troyer syndrome ?,"Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.",GARD,Troyer syndrome +What are the symptoms of Troyer syndrome ?,"What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. Affected people have progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; learning disorders; and short stature. Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal abnormalities; and a bending outward (valgus) of the knees. There is generally a slow, progressive decline in muscle and nerve function, and symptoms worsen over time. Most people need a wheelchair by their 50s or 60s. Affected people typically have a normal life expectancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Troyer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Brachydactyly syndrome - Camptodactyly - Cerebellar atrophy - Childhood onset - Clinodactyly - Difficulty walking - Distal amyotrophy - Drooling - Dysarthria - Dysmetria - Emotional lability - Hammertoe - Hyperextensible hand joints - Hyperplasia of midface - Hyperreflexia - Hypertelorism - Intellectual disability, mild - Knee clonus - Kyphoscoliosis - Lower limb muscle weakness - Motor delay - Pes cavus - Short foot - Short stature - Spastic gait - Spastic paraparesis - Spastic paraplegia - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Troyer syndrome +What causes Troyer syndrome ?,"What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. It is thought to play various roles needed for the functions of cells. Troyer syndrome is assumed to be caused by a loss of function of the spartin protein. More research on the normal functions of the spartin protein is needed to better understand exactly how mutations in the SPG20 gene cause the features of Troyer syndrome.",GARD,Troyer syndrome +Is Troyer syndrome inherited ?,"How is Troyer syndrome inherited? Troyer syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier.",GARD,Troyer syndrome +What are the treatments for Troyer syndrome ?,"How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is used either orally or by intrathecal pump. Tizanidine, dantrolene (with precautions), and Botox have also been useful in reducing muscle spasticity. Daily physical therapy is recommended. Treatment may also include: Occupational therapy, assistive walking devices, and ankle-foot orthotics as needed Oxybutynin to reduce urinary urgency Antidepressants or mood stabilizers to manage emotional or mood disorders Additional information about the management of Troyer syndrome can be viewed on the GeneReviews Web site.",GARD,Troyer syndrome +What is (are) Glycogen storage disease type 7 ?,"Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.",GARD,Glycogen storage disease type 7 +What are the symptoms of Glycogen storage disease type 7 ?,"What are the signs and symptoms of Glycogen storage disease type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myotonia 90% Skeletal muscle atrophy 50% Autosomal recessive inheritance - Cholelithiasis - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Gout - Hemolytic anemia - Increased muscle glycogen content - Increased total bilirubin - Jaundice - Muscle weakness - Reduced erythrocyte 2,3-diphosphoglycerate concentration - Reticulocytosis - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 7 +What are the symptoms of Chromosome 17p13.1 deletion syndrome ?,"What are the signs and symptoms of Chromosome 17p13.1 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17p13.1 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Webbed neck 5% Ankle clonus - Anteverted nares - Autosomal dominant inheritance - Broad hallux - Contiguous gene syndrome - Elbow flexion contracture - Epicanthus - Feeding difficulties - High forehead - High palate - Highly arched eyebrow - Hydrocephalus - Hyperactive deep tendon reflexes - Inverted nipples - Knee flexion contracture - Ligamentous laxity - Long hallux - Muscular hypotonia - Prominent nasal bridge - Proximal placement of thumb - Short chin - Short foot - Short neck - Short palm - Sleep disturbance - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 17p13.1 deletion syndrome +What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ?,"What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities +"What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ?","What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" +"What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ?","What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorioretinal coloboma 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia affecting the eye 50% Cognitive impairment 50% Hematuria 50% Iris coloboma 50% Oral cleft 50% Cataract 7.5% Glaucoma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% Optic atrophy 7.5% Posterior embryotoxon 7.5% Ptosis 7.5% Retinal detachment 7.5% Strabismus 7.5% Visual impairment 7.5% Cleft palate 5% Cleft upper lip 5% Intellectual disability 5% Microphthalmia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Coloboma, cleft lip/palate and mental retardation syndrome" +What is (are) Multiple myeloma ?,"Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs. The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.",GARD,Multiple myeloma +What are the symptoms of Multiple myeloma ?,"What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple myeloma +What causes Multiple myeloma ?,"What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people with multiple myeloma, excess plasma cells form tumors in the bone, causing bones to become weak and easily broken. The abnormal growth of plasma cells also makes it more difficult for the bone marrow to make healthy blood cells and platelets. The plasma cells produced in multiple myeloma produce abnormal antibodies that the immune system is unable to use. These abnormal antibodies build up in the body and cause a variety of problems. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS).",GARD,Multiple myeloma +How to diagnose Multiple myeloma ?,"How is multiple myeloma diagnosed? A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include: Specialized blood tests including immunoglobulin studies, complete blood count with differential, and blood chemistry studies Urine tests such as immunoglobulin studies and a twenty-four-hour urine test Bone marrow aspiration and biopsy Imaging studies such as an X-ray of the bones (skeletal bone survey), MRI, CT scan, and/or PET scan The American Cancer Society offers more information regarding the diagnosis of multiple myeloma, including a summary of the many tests that may be recommended. Please click on the link to access this resource. Some affected people may have no suspicious signs or symptoms of multiple myeloma, especially in the early stages of the condition. In these cases, multiple myeloma is sometimes diagnosed by chance when a blood test or urine test is ordered to investigate another condition.",GARD,Multiple myeloma +What are the treatments for Multiple myeloma ?,"How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple myeloma: Chemotherapy Corticosteroid medications Targeted therapy Stem cell transplant Biological therapy Radiation therapy Surgery Watchful waiting The National Cancer Institute offers information regarding the management of multiple myeloma, including more specific information regarding the treatments outlined above. Please click on the link to access this resource.",GARD,Multiple myeloma +What is (are) Focal dystonia ?,"Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Additionally, FTSD has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. While the abnormal movements associated with focal dystonia are usually painless, they can cause high levels of anxiety. The causes of focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. It is possible that the different forms of FTSD have different underlying causes. Researchers have found that at least some cases are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Most cases of focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history which seems to follow an autosomal dominant pattern of inheritance.",GARD,Focal dystonia +What are the symptoms of Focal dystonia ?,"What are the signs and symptoms of Focal dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Focal dystonia +"What is (are) Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?","Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a mutation in the LYK5 gene. Seizures are difficult to treat and there is ongoing research for more effective medication.",GARD,"Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" +"What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?","What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperplasia of midface 16/16 Hypertelorism 16/16 Large forehead 16/16 Long face 16/16 Muscular hypotonia 16/16 Polyhydramnios 16/16 Thick lower lip vermilion 16/16 Thick upper lip vermilion 16/16 Wide mouth 16/16 Wide nasal bridge 16/16 Macrocephaly 15/16 Premature birth 15/16 Atria septal defect 4/16 Diabetes insipidus 2/16 Nephrocalcinosis 2/16 Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" +What is (are) Long QT syndrome 1 ?,"Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.",GARD,Long QT syndrome 1 +What are the symptoms of Long QT syndrome 1 ?,"What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Long QT syndrome 1 +What are the symptoms of Orofaciodigital syndrome 11 ?,"What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the odontoid process - Cleft palate - Intellectual disability - Kyphoscoliosis - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 11 +What is (are) Exstrophy-epispadias complex ?,"Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. This results in the abnormal development of the abdominal wall of the fetus. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Therefore, depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for this condition. Treatment may involve several surgeries to repair the abdominal wall and any associated malformation. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.",GARD,Exstrophy-epispadias complex +What are the symptoms of Battaglia-Neri syndrome ?,"What are the signs and symptoms of Battaglia-Neri syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Battaglia-Neri syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse facial features 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypertrichosis 90% Microcephaly 90% Scoliosis 90% Seizures 90% Autosomal recessive inheritance - Hirsutism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Battaglia-Neri syndrome +"What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?","What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ectodermal dysplasia, hidrotic, Christianson-Fourie type" +What are the symptoms of Dementia familial British ?,"What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebral amyloid angiopathy - Dementia - Hypertonia - Progressive neurologic deterioration - Rigidity - Spasticity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dementia familial British +What are the symptoms of T-cell lymphoma 1A ?,"What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Leukemia - T-cell lymphoma/leukemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,T-cell lymphoma 1A +What is (are) Chancroid ?,"Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.",GARD,Chancroid +What is (are) Hennekam syndrome ?,"Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). Hennekam syndrome is caused by changes (mutations) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Hennekam syndrome +What are the symptoms of Hennekam syndrome ?,"What are the signs and symptoms of Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of dental morphology 90% Cognitive impairment 90% Decreased antibody level in blood 90% Delayed eruption of teeth 90% Depressed nasal bridge 90% External ear malformation 90% Hypertelorism 90% Increased number of teeth 90% Low-set, posteriorly rotated ears 90% Lymphangioma 90% Lymphedema 90% Lymphopenia 90% Malabsorption 90% Malar flattening 90% Reduced number of teeth 90% Abnormality of the genital system 50% Ascites 50% Broad forehead 50% Epicanthus 50% Erysipelas 50% Gingival overgrowth 50% Lymphadenopathy 50% Narrow chest 50% Recurrent respiratory infections 50% Seizures 50% Splenomegaly 50% Abnormal localization of kidney 7.5% Abnormality of neuronal migration 7.5% Abnormality of the foot 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Arteriovenous malformation 7.5% Benign neoplasm of the central nervous system 7.5% Camptodactyly of finger 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Hydrops fetalis 7.5% Hypocalcemia 7.5% Narrow mouth 7.5% Pyloric stenosis 7.5% Respiratory insufficiency 7.5% Short philtrum 7.5% Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Camptodactyly - Conical incisor - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed skeletal maturation - Ectopic kidney - Flat face - Hirsutism - Horseshoe kidney - Hydronephrosis - Hyperactivity - Hypoalbuminemia - Hypoplastic iliac wing - Intellectual disability - Intestinal lymphangiectasia - Joint contracture of the hand - Low-set ears - Mild postnatal growth retardation - Narrow palate - Oligodontia - Pachygyria - Pectus excavatum - Pericardial effusion - Pericardial lymphangiectasia - Periorbital edema - Pleural effusion - Pleural lymphangiectasia - Protein-losing enteropathy - Rectal prolapse - Retrognathia - Scoliosis - Sensorineural hearing impairment - Short foot - Short palm - Small hand - Smooth philtrum - Spina bifida occulta - Talipes equinovarus - Thyroid lymphangiectasia - Umbilical hernia - Ventricular septal defect - Vesicoureteral reflux - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hennekam syndrome +What are the symptoms of GOSR2-related progressive myoclonus ataxia ?,"What are the signs and symptoms of GOSR2-related progressive myoclonus ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for GOSR2-related progressive myoclonus ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Areflexia - Ataxia - Atonic seizures - Autosomal recessive inheritance - Difficulty walking - Dysarthria - Elevated serum creatine phosphokinase - Myoclonus - Progressive - Scoliosis - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GOSR2-related progressive myoclonus ataxia +What is (are) Von Willebrand disease ?,"Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns.",GARD,Von Willebrand disease +What are the symptoms of Von Willebrand disease ?,"What are the signs and symptoms of Von Willebrand disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Von Willebrand disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic valve stenosis - Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Gastrointestinal angiodysplasia - Gastrointestinal hemorrhage - Impaired platelet aggregation - Incomplete penetrance - Joint hemorrhage - Menorrhagia - Mitral valve prolapse - Prolonged bleeding time - Prolonged whole-blood clotting time - Reduced factor VIII activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Von Willebrand disease +What causes Von Willebrand disease ?,"What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation). Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood. A list of disorders associated with AVWS is available from UpToDate.",GARD,Von Willebrand disease +Is Von Willebrand disease inherited ?,"Is von Willebrand disease always inherited from a parent? Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner. Most individuals with an autosomal dominant type of VWD have an affected parent. However, some individuals are affected due to having a new (de novo) mutation in the VWF gene that occurred for the first time in the affected individual. If the mutation found in the affected individual cannot be detected in either parent, it is most often due to a de novo mutation but may also be due to germline mosaicism in a parent. Possible non-medical explanations which may be explored include alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption. There is also a separate, rare condition called acquired von Willebrand syndrome (AVWS). This is a mild to moderate bleeding disorder that is typically seen in conjunction with other disorders, such as diseases that affect bone marrow or immune cell function. AVWS is not caused by a mutation in the VWF gene and usually begins in adulthood.",GARD,Von Willebrand disease +What are the symptoms of Familial episodic pain syndrome ?,"What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Infantile onset - Pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial episodic pain syndrome +What is (are) Myoepithelial carcinoma ?,Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients is reported to be 55 years.,GARD,Myoepithelial carcinoma +What are the treatments for Myoepithelial carcinoma ?,"How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. There is limited evidence about the usefulness of chemotherapy in treating metastatic myoepithelial cancer, and there are no standard treatment guidelines. However, there are three reports of individuals with metastatic myoepithelial cancer who responded to chemotherapy. In one individual, the metastatic tumors stopped growing during chemotherapy. In the other two individuals, there was no evidence of the metastatic tumors after 14 months for one person and after three years for the other person.",GARD,Myoepithelial carcinoma +"What are the symptoms of Epidermolysis bullosa simplex, Ogna type ?","What are the signs and symptoms of Epidermolysis bullosa simplex, Ogna type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Ogna type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Bruising susceptibility 90% Abnormality of the nail 50% Aplasia/Hypoplasia of the skin 50% Hyperkeratosis 50% Autosomal dominant inheritance - Onychogryposis of toenails - Skin fragility with non-scarring blistering - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa simplex, Ogna type" +What are the symptoms of Multiple self healing squamous epithelioma ?,"What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Neoplasm - Onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple self healing squamous epithelioma +"What are the symptoms of Dentin dysplasia, type 1 ?","What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microdontia 5% Taurodontia 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Dentinogenesis imperfecta limited to primary teeth - Obliteration of the pulp chamber - Periapical radiolucency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dentin dysplasia, type 1" +What is (are) Filippi syndrome ?,"Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.",GARD,Filippi syndrome +What are the symptoms of Filippi syndrome ?,"What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet. Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted. The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Finger syndactyly 90% Microcephaly 90% Neurological speech impairment 90% Prominent nasal bridge 90% Short stature 90% Underdeveloped nasal alae 90% Delayed skeletal maturation 50% Frontal bossing 50% Single transverse palmar crease 50% Hypertrichosis 5% Hypodontia 5% Sparse hair 5% 2-4 toe syndactyly - Autosomal recessive inheritance - Broad forehead - Cerebellar atrophy - Decreased body weight - Dystonia - Intellectual disability - Intrauterine growth retardation - Microdontia - Optic atrophy - Postnatal growth retardation - Proptosis - Seizures - Short philtrum - Thin vermilion border - Ventricular septal defect - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Filippi syndrome +What are the treatments for Filippi syndrome ?,"How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors.",GARD,Filippi syndrome +What are the symptoms of Pseudoainhum ?,"What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudoainhum +What is (are) Hemorrhagic shock and encephalopathy syndrome ?,"Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. Individuals with HSES have extremely high body temperatures and multiple organ failures. This condition often causes long term neurological problems or death. The cause of the HSES is unknown.hs",GARD,Hemorrhagic shock and encephalopathy syndrome +What causes Hemorrhagic shock and encephalopathy syndrome ?,"What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the development of this condition, including infection, exposure to toxins in the environment, and overwrapping of infants with a fever. Hemorrhagic shock and encephalopathy syndrome has not been reported to be associated with a specific ethnic group or religious background.",GARD,Hemorrhagic shock and encephalopathy syndrome +What is (are) Congenital primary aphakia ?,"Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.",GARD,Congenital primary aphakia +What are the symptoms of Congenital primary aphakia ?,"What are the signs and symptoms of Congenital primary aphakia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital primary aphakia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aniridia - Anterior segment of eye aplasia - Autosomal recessive inheritance - Congenital primary aphakia - Microphthalmia - Sclerocornea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital primary aphakia +What is (are) Wandering spleen ?,"Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy).",GARD,Wandering spleen +What are the treatments for Wandering spleen ?,"How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice.",GARD,Wandering spleen +"What are the symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type ?","What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent nasal bridge 3/3 Barrel-shaped chest 3/3 Broad thumb 3/3 Joint laxity 3/3 Low-set ears 3/3 Lumbar hyperlordosis 3/3 Malar flattening 3/3 Mandibular prognathia 3/3 Mesomelia 3/3 Posteriorly rotated ears 3/3 Relative macrocephaly 3/3 Rhizomelia 3/3 Short finger 3/3 Short neck 3/3 Hoarse voice 2/3 Autosomal recessive inheritance - Spondyloepimetaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Spondyloepimetaphyseal dysplasia, Aggrecan type" +What are the symptoms of Priapism ?,"What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Priapism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Priapism +What is (are) Inflammatory myofibroblastic tumor ?,"An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.",GARD,Inflammatory myofibroblastic tumor +What causes Inflammatory myofibroblastic tumor ?,"What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been reported between IMT and infections, including: organizing pneumonia Mycobacterium avium intracellulare Corynebacterium equi (a bacteria that affects the lungs) Campylobacter jejuni (a common cause of gastroenteritis) Bacillus sphaericus Coxiella burnetii Epstein-Barr virus E. coli occlusive phlebitis of intrahepatic veins Associations have also been reported between IMT and: previous abdominal surgery trauma ventriculoperitoneal shunt radiation therapy steroid usage An inflammatory reaction to an underlying, low-grade malignancy has also been proposed as a cause. Because there is limited information available to support or refute any of these, the mechanism behind the development of IMTs is still unclear.",GARD,Inflammatory myofibroblastic tumor +What is (are) Hantavirus pulmonary syndrome ?,"Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills, and abdominal problems such as nausea, vomiting, diarrhea, and pain. Later symptoms of the syndrome occur 4 to 10 days after initial onset and include coughing and shortness of breath. HPS can be fatal; approximately 38% of individuals with HPS do not survive. There is no cure or specific treatment for HPS, but early diagnosis and treatment in intensive care may increase the chance of recovery.",GARD,Hantavirus pulmonary syndrome +What is (are) Branchiootorenal syndrome ?,"Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.",GARD,Branchiootorenal syndrome +What are the symptoms of Branchiootorenal syndrome ?,"What are the signs and symptoms of Branchiootorenal syndrome? Signs and symptoms of branchiootorenal syndrome can vary greatly from person to person and even between people within the same family. Hearing loss is the most common symptom and is shared by approximately 90% of people with this syndrome. Hearing loss may be conductive, sensorineural, or a combination of both. Other common signs and symptoms include branchial cleft cysts, branchial fistulae, outer, middle, and inner ear malformations, and kidney malformations. Specifically mutations in the EYA1 or SIX1 genes can be associated with kidney malformations. You can find more details regarding the signs and symptoms of branchiootorenal syndrome by visiting the Genetic Home Reference Web site at the following link: http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiootorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 90% Preauricular pit 75% Abnormality of the inner ear 50% Abnormality of the middle ear 50% External ear malformation 50% Mixed hearing impairment 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Cupped ear 45% Microtia 45% Stenosis of the external auditory canal 30% Lacrimal duct aplasia 25% Lacrimal duct stenosis 25% Facial palsy 10% Atresia of the external auditory canal 7.5% Cleft palate 7.5% Lacrimation abnormality 7.5% Multicystic kidney dysplasia 7.5% Renal insufficiency 7.5% Vesicoureteral reflux 7.5% Abnormality of the cerebrum - Abnormality of the renal collecting system - Autosomal dominant inheritance - Bifid uvula - Branchial cyst - Branchial fistula - Cholesteatoma - Congenital hip dislocation - Dilatated internal auditory canal - Euthyroid goiter - Gustatory lacrimation - Heterogeneous - High palate - Hypoplasia of the cochlea - Incomplete partition of the cochlea type II - Incomplete penetrance - Intestinal malrotation - Long face - Microdontia - Narrow face - Overbite - Polycystic kidney dysplasia - Renal agenesis - Renal dysplasia - Renal malrotation - Renal steatosis - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Branchiootorenal syndrome +What causes Branchiootorenal syndrome ?,"What causes branchiootorenal syndrome? Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder. There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well.",GARD,Branchiootorenal syndrome +Is Branchiootorenal syndrome inherited ?,"Is branchiootorenal syndrome inherited? Branchiootorenal syndrome may be inherited or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.",GARD,Branchiootorenal syndrome +What are the treatments for Branchiootorenal syndrome ?,"How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). Treatment of hearing loss may include determining which aids would be most helpful, for example hearing aids or vibrotactile devices; cochlear implantation may be considered in children over age 12 months with severe-to-profound hearing loss. Early hearing intervention through amplification, surgery, or cochlear implantation may be recommended for children who are at risk to lose their hearing before they learn to speak. People with hereditary hearing loss often require regular follow-up with a hearing specialist such as an audiologist to monitor stability or progression of the hearing loss. Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications, dialysis or kidney transplant may be required.",GARD,Branchiootorenal syndrome +What is (are) Mosaic trisomy 8 ?,"Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.",GARD,Mosaic trisomy 8 +What are the symptoms of Mosaic trisomy 8 ?,"What are the signs and symptoms of Mosaic trisomy 8? The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus callosum, highly arched or cleft palate, short and large neck, high stature, elongated thin trunk, and narrow shoulders and pelvis. Kidney and cardiac abnormalities are frequent. Camptodactyly, stiff joints, absent malformed kneecap, vertebral malformations such as scoliosis, as well as eye abnormalities also commonly observed. Most affected individuals have moderate intellectual disabilities (IQ between 50 and 75), with some people having a normal intelligence. There is no correlation between the percentage of trisomic cells and the severity of the intellectual deficit. Mosaic trisomy 8 also seems to predispose to Wilms tumors, myelodysplasias, and myeloid leukemia. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the antihelix 50% Abnormality of the ribs 50% Abnormality of the shoulder 50% Anteverted nares 50% Camptodactyly of finger 50% Deep palmar crease 50% Deep plantar creases 50% Deeply set eye 50% Dolichocephaly 50% Frontal bossing 50% Hypertelorism 50% Large earlobe 50% Limitation of joint mobility 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Opacification of the corneal stroma 50% Patellar aplasia 50% Scoliosis 50% Strabismus 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Deviation of finger 7.5% Hearing impairment 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Short neck 7.5% Short stature 7.5% Tall stature 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mosaic trisomy 8 +What are the symptoms of Spinocerebellar ataxia X-linked type 3 ?,"What are the signs and symptoms of Spinocerebellar ataxia X-linked type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia X-linked type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Sensorineural hearing impairment 90% Areflexia - Cerebellar atrophy - Death in infancy - Dementia - Dysmetria - Dysphagia - Episodic hypoventilation - Episodic respiratory distress - Esotropia - Gastroesophageal reflux - Gliosis - Head titubation - Hyporeflexia - Infantile onset - Intention tremor - Lethargy - Muscle weakness - Neuronal loss in central nervous system - Optic disc pallor - Recurrent respiratory infections - Seizures - Spasticity - Unilateral vocal cord paralysis - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia X-linked type 3 +What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ?,"What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Cognitive impairment 90% Generalized hypopigmentation 90% Microcephaly 90% Ocular albinism 90% Short distal phalanx of finger 90% Albinism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephaly-albinism-digital anomalies syndrome +What is (are) Coccygodynia ?,"Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury.",GARD,Coccygodynia +What are the symptoms of Coccygodynia ?,"What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms include : Immediate and severe pain when moving from sitting to standing Pain during bowel movements Pain during sex Deep ache in the region of the tailbone",GARD,Coccygodynia +What causes Coccygodynia ?,"What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis. Another common cause, exclusive to women, is childbirth. The other most common cause of the condition is pregnancy. During the last three months of pregnancy, certain hormones are released in the women's body causing the area between the sacrum and the coccyx to soften and become more mobile. The increased mobility may result in permanent stretching and change and causing inflammation of the tissues surrounding the coccyx. In about one third of all cases of coccygodynia, the cause is unknown. Other less common causes include nerve damage, cysts such as Tarlov cysts, obesity, and a bursitis like condition that can arise in slim patients who have little buttocks fat padding.",GARD,Coccygodynia +What are the treatments for Coccygodynia ?,"What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. If these treatment options fails, glucocorticoid injections may be used in an attempt to reduce the pain. Massage therapy has also been used to help decrease pain, but most studies have shown that the relief experienced from this form of therapy is temporary. The more aggressive and rare approach involves either partial or complete removal of the coccyx (coccygectomy).",GARD,Coccygodynia +What is (are) Ewing sarcoma ?,"Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions.",GARD,Ewing sarcoma +What are the symptoms of Ewing sarcoma ?,"What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ewing's sarcoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ewing sarcoma +What causes Ewing sarcoma ?,"What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcoma tumors, involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. This rearrangement of genetic material between chromosomes 22 and 11 fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. In extremely rare cases, Ewing sarcoma may develop as a second malignancy, which means that the condition develops as a late-onset complication of earlier treatment for another form of cancer.",GARD,Ewing sarcoma +Is Ewing sarcoma inherited ?,"Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family members of patients with tumors of the Ewing sarcoma family. A search of the medical literature did identify a very small number of cases of Ewing sarcoma among siblings. To access articles on this topic, click here.",GARD,Ewing sarcoma +"What is (are) 47, XYY syndrome ?","47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education.",GARD,"47, XYY syndrome" +"What causes 47, XYY syndrome ?","What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. Importantly, there is nothing either parent can do (or not do) to cause or prevent 47, XYY syndrome.",GARD,"47, XYY syndrome" +"Is 47, XYY syndrome inherited ?","Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. Additionally, men with 47, XYY are not reported to have an increased risk for a child with a chromosome variation. People with personal questions about recurrence risks are encouraged to speak with a genetic counselor or other genetic professional.",GARD,"47, XYY syndrome" +What is (are) Laron syndrome ?,Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is often caused by changes (mutations) in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1).,GARD,Laron syndrome +What are the symptoms of Laron syndrome ?,"What are the signs and symptoms of Laron syndrome? Laron syndrome is a rare condition in which the body is unable to use growth hormone. The primary symptom is short stature. Although affected people are generally close to average size at birth, they experience slow growth from early childhood. If left untreated, adult males with Laron syndrome typically reach a maximum height of about 4.5 feet and adult females may be just over 4 feet tall. Other signs and symptoms associated with the condition vary but may include: Reduced muscle strength and endurance Hypoglycemia in infancy Delayed puberty Small genitals Thin, fragile hair Dental abnormalities Short limbs (arms and legs) Obesity Distinctive facial features (protruding forehead, a sunken bridge of the nose, and blue sclerae) People affected by Laron syndrome appear to have a reduced risk of cancer and type 2 diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Laron syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Aplasia/Hypoplasia involving the nose 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% High forehead 90% Microdontia 90% Reduced number of teeth 90% Truncal obesity 90% Abnormality of the elbow 50% Brachydactyly syndrome 50% Hypoglycemia 50% Hypoplasia of penis 50% Short toe 50% Skeletal muscle atrophy 50% Underdeveloped supraorbital ridges 50% Abnormality of lipid metabolism 7.5% Abnormality of the voice 7.5% Blue sclerae 7.5% Cognitive impairment 7.5% Depressed nasal ridge 7.5% Hypertrichosis 7.5% Hypohidrosis 7.5% Osteoarthritis 7.5% Prematurely aged appearance 7.5% Abnormal joint morphology - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed menarche - High pitched voice - Severe short stature - Short long bone - Small face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Laron syndrome +What causes Laron syndrome ?,"What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome.",GARD,Laron syndrome +Is Laron syndrome inherited ?,"Is Laron syndrome inherited? Most cases of Laron syndrome are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Reports exist of rare families in which Laron syndrome appears to be inherited in an autosomal dominant manner. In these cases, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. An affected person has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Laron syndrome +How to diagnose Laron syndrome ?,"How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. This generally includes blood tests to measure the levels of certain hormones that are often abnormal in people with Laron syndrome. For example, affected people may have elevated levels of growth hormone and reduced levels of insulin-like growth factor I. Genetic testing for changes (mutations) in the GHR gene can also be used to confirm a diagnosis in some cases.",GARD,Laron syndrome +What are the treatments for Laron syndrome ?,"How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems.",GARD,Laron syndrome +What are the symptoms of Osteoporosis-pseudoglioma syndrome ?,"What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia affecting the eye 90% Bowing of the long bones 90% Cataract 90% Delayed skeletal maturation 90% Joint hypermobility 90% Muscular hypotonia 90% Recurrent fractures 90% Reduced bone mineral density 90% Visual impairment 90% Abnormality of the pupil 50% Cognitive impairment 50% Short stature 50% Abnormal hair quantity 7.5% Depressed nasal bridge 7.5% Kyphosis 7.5% Low posterior hairline 7.5% Obesity 7.5% Optic atrophy 7.5% Absent anterior eye chamber - Autosomal recessive inheritance - Barrel-shaped chest - Blindness - Glioma - Intellectual disability, mild - Iris atrophy - Kyphoscoliosis - Metaphyseal widening - Microcephaly - Microphthalmia - Osteoporosis - Pathologic fracture - Phthisis bulbi - Platyspondyly - Ventricular septal defect - Vitreoretinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteoporosis-pseudoglioma syndrome +What are the symptoms of DCMA syndrome ?,"What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,DCMA syndrome +What is (are) Familial stomach cancer ?,"Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered ""familial."" Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories.",GARD,Familial stomach cancer +What are the symptoms of Multicentric osteolysis nephropathy ?,"What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Decreased body weight 90% EMG abnormality 90% Gait disturbance 90% Limitation of joint mobility 90% Proptosis 90% Proteinuria 90% Skeletal muscle atrophy 90% Slender long bone 90% Triangular face 90% Camptodactyly of finger 50% Nephropathy 50% Abnormality of epiphysis morphology 7.5% Downturned corners of mouth 7.5% Polyhydramnios 7.5% Telecanthus 7.5% Wide nasal bridge 7.5% Ankle swelling - Arthralgia - Autosomal dominant inheritance - Carpal osteolysis - Hypertension - Hypoplasia of the maxilla - Metacarpal osteolysis - Metatarsal osteolysis - Osteolysis involving tarsal bones - Osteopenia - Pes cavus - Renal insufficiency - Ulnar deviation of the hand or of fingers of the hand - Wrist swelling - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multicentric osteolysis nephropathy +What are the symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?,"What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Exudative retinal detachment - Pulmonic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinal arterial macroaneurysm with supravalvular pulmonic stenosis +What is (are) Systemic scleroderma ?,"Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud's phenomenon, which can occur weeks to years before fibrosis. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. There are three types of systemic scleroderma, defined by the tissues affected in the disorder. Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited systemic sclerosis (systemic sclerosis sine scleroderma)",GARD,Systemic scleroderma +What are the symptoms of Systemic scleroderma ?,"What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Systemic scleroderma +What causes Systemic scleroderma ?,"What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition. It is suspected that scleroderma may develop from a variety of factors, which may include: Abnormal immune or inflammatory activity Genetic susceptibility: while no specific genes are thought to cause scleroderma, certain genes (or combination of genes) may increase a person's risk to be affected. However, the condition is not passed directly from parents to children. Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin). Hormones: because women develop scleroderma more often than men, researchers suspect that hormones may play a role. However, the role of female hormones has not been proven. Widespread scleroderma can also occur in association with other autoimmune diseases, including systemic lupus erythematosus and polymyositis.",GARD,Systemic scleroderma +Is Systemic scleroderma inherited ?,"Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. However, the condition is not caused by a single gene that is passed on to offspring. Multiple genetic and environmental factors likely interact to put someone at an increased risk to develop the condition.",GARD,Systemic scleroderma +How to diagnose Systemic scleroderma ?,"Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a ""carrier"" is not currently available. Even if someone is known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition. You can view a list of centers that may be involved in research projects on systemic scleroderma on Orphanet's Web site. You can also view a list of clinical trials involving people with systemic scleroderma on ClinicalTrials.gov. People interested in learning more about genes and genetic testing for systemic scleroderma should speak with a genetics professional.",GARD,Systemic scleroderma +What is (are) 2q37 deletion syndrome ?,"2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.",GARD,2q37 deletion syndrome +What are the symptoms of 2q37 deletion syndrome ?,"What are the signs and symptoms of 2q37 deletion syndrome? Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia. Unique is a source of information and support to families and individuals affected by rare chromosome disorders. On their Web site, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome. Click on the link below to view this information. http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletions%20FTNW.pdf The Human Phenotype Ontology provides the following list of signs and symptoms for 2q37 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Round face 90% Abnormal hair quantity 50% Abnormality of the metacarpal bones 50% Abnormality of the palate 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Brachydactyly syndrome 50% Broad columella 50% Clinodactyly of the 5th finger 50% Deeply set eye 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Eczema 50% Finger syndactyly 50% Frontal bossing 50% Highly arched eyebrow 50% Joint hypermobility 50% Microcephaly 50% Obesity 50% Seizures 50% Short foot 50% Short palm 50% Short stature 50% Single transverse palmar crease 50% Supernumerary nipple 50% Thin vermilion border 50% Toe syndactyly 50% Umbilical hernia 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Abnormality of the aorta 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Conductive hearing impairment 7.5% Congenital diaphragmatic hernia 7.5% Laryngomalacia 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Nephroblastoma (Wilms tumor) 7.5% Obsessive-compulsive behavior 7.5% Pyloric stenosis 7.5% Short neck 7.5% Sleep disturbance 7.5% Stereotypic behavior 7.5% Tracheomalacia 7.5% Arrhythmia 5% Sensorineural hearing impairment 5% Subaortic stenosis 5% Aggressive behavior - Brachycephaly - Broad face - Broad nasal tip - Congenital onset - Hyperactivity - Hypoplasia of midface - Hyporeflexia - Intellectual disability - Pain insensitivity - Self-injurious behavior - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,2q37 deletion syndrome +What causes 2q37 deletion syndrome ?,What causes 2q37 deletion syndrome? 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.,GARD,2q37 deletion syndrome +Is 2q37 deletion syndrome inherited ?,"How is 2q37 deletion syndrome inherited? Can it be a hidden trait? Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.",GARD,2q37 deletion syndrome +What is (are) Pachygyria ?,"Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as ""incomplete lissencephaly."" Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.",GARD,Pachygyria +What are the symptoms of Pachygyria ?,"What are the signs and symptoms of pachygyria? Signs and symptoms of pachygyria vary among affected people and can depend on the extent of the abnormality. They often include poor muscle tone and motor function; seizures; developmental delays; intellectual disability; failure to grow and thrive; difficulties with feeding or swallowing; swelling in the extremities; and small head size (microcephaly). Most infants appear physically normal, but some conditions associated with pachygyria cause distinctive facial or skull characteristics.",GARD,Pachygyria +What causes Pachygyria ?,"What causes pachygyria? Pachygyria, also called ""incomplete lissencephaly,"" may be caused by various non-genetic (environmental) and genetic factors that play a role in impairing the development of the outer region of the brain (the cerebral cortex). The cerebral cortex is responsible for conscious movement and thought, and should have deep convolutions (gyri) and grooves (sulci), which are formed by ""infolding"" of the cerebral cortex. During normal embryonic growth, immature cells that later develop into specialized nerve cells (neurons) normally migrate to the brain's surface, making several layers of cells. When this process is impaired, the cells don't migrate to their locations, resulting in too few cell layers and absence (agyria) or incomplete development (pachygyria) of gyri. Environmental factors that contribute to the condition may include intrauterine infection during pregnancy (such as a virus), and insufficient flow of oxygenated blood to the brain (ischemia) during fetal development. More than 25 syndromes due to abnormal migration of neurons have been reported; in some of these cases, the genetic cause and pattern of inheritance depends on that of the specific syndrome. Mutations in several genes have been identified in people with abnormalities of cortical development, including the KIF5C, KIF2A, DYNC1H1, WDR62, and TUBG1 genes. Studies have also found that isolated lissencephaly may result from mutations in the LIS1 and XLIS (also called DCX) genes. People interested in learning about the cause of pachygyria in themselves or family members should speak with their health care provider or a a genetics professional.",GARD,Pachygyria +What are the treatments for Pachygyria ?,"How might pachygyria be treated? Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies.",GARD,Pachygyria +What is (are) Pudendal Neuralgia ?,"Pudendal neuralgia occurs when the pudendal nerve is injured or compressed. Symptoms include pain, burning, tingling, or numbness in the pelvic or buttock areas; symptoms worsen while an affected individual is in a sitting position. The cause of pudendal neuralgia is unknown. Treatment includes nerve block of the pudendal nerve or surgery to remove surrounding tissues that might be pressing on the nerve.",GARD,Pudendal Neuralgia +What are the treatments for Pudendal Neuralgia ?,"What treatments are available for pudendal neuralgia? There are no established guidelines for the treatment of pudendal neuralgia. Treatment may include medications, the use of a specialized cushion while sitting, nerve block, surgery to remove nearby tissues that may be pressing on the pudendal nerve, or nerve stimulation.",GARD,Pudendal Neuralgia +What are the symptoms of Thoraco abdominal enteric duplication ?,"What are the signs and symptoms of Thoraco abdominal enteric duplication? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoraco abdominal enteric duplication. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the ribs 90% Abnormality of the tricuspid valve 90% Asymmetric growth 90% Camptodactyly of finger 90% Diastomatomyelia 90% Duodenal stenosis 90% Hepatomegaly 90% Intestinal malrotation 90% Meningocele 90% Respiratory insufficiency 90% Situs inversus totalis 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thoraco abdominal enteric duplication +What is (are) Chanarin-Dorfman syndrome ?,"Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.",GARD,Chanarin-Dorfman syndrome +What are the symptoms of Chanarin-Dorfman syndrome ?,"What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chanarin-Dorfman syndrome +What is (are) Squamous cell carcinoma ?,"Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable.",GARD,Squamous cell carcinoma +What are the treatments for Squamous cell carcinoma ?,"How might squamous cell carcinoma be treated? Skin cancer generally has a high cure rate if it is treated early. Treatment depends on how big the tumor is, its location, and how far it has spread (metastasis). Methods of treatment for squamous cell carcinoma may include: Curettage and desiccation - scraping away the cancer and using electricity to kill any remaining cancer cells; this is used to treat cancers that are not very large or deep Surgical excision - cutting out of the tumor and stitching up the remaining tissue Radiation therapy (if the skin cancer is located in an area difficult to treat surgically) Microscopically controlled excision (Mohs surgery) - repeated cutting out of small pieces of tissue that are then examined microscopically to check if any cancer has been left behind; repeated application of this technique minimizes the removal of healthy tissue and is cosmetically more satisfying, especially if carried out with a plastic surgeon as part of the medical team. This is more likely to be used for skin cancers on the nose, ears, and other areas of the face. Cryosurgery - freezing and killing the cancer cells Skin creams and medications - may be used to treat superficial (not very deep) squamous cell carcinoma. The outlook for small squamous cell lesions that are removed early and completely is extremely favorable, with about 95% cured if they are removed promptly.",GARD,Squamous cell carcinoma +What is (are) Myotonic dystrophy type 1 ?,"Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.",GARD,Myotonic dystrophy type 1 +What are the symptoms of Myotonic dystrophy type 1 ?,"What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cataract 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Dysphagia - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Obsessive-compulsive trait - Polyhydramnios - Respiratory distress - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myotonic dystrophy type 1 +Is Myotonic dystrophy type 1 inherited ?,"How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation. Some individuals diagnosed with Myotonic dystrophy type 1 have an obviously affected parent; others do not. A parent may appear to be unaffected because symptoms may be mild or absent. Genetic testing is available to confirm the presence of the condition.",GARD,Myotonic dystrophy type 1 +What are the treatments for Myotonic dystrophy type 1 ?,"How might myotonic dystrophy type 1 associated vision problems be treated? Treatment of eye and vision problems must be individually tailored. Refractive error and astigmatism can be corrected with eyeglasses, contact lenses, or surgery. Special glasses with eye ""crutches"" can be used to improve vision in people with ptosis. Surgery can be done to treat ptosis and cataracts, however ptosis often recurs and special precautions must be taken with anesthesia. If severe, strabismus may also be treated with surgery.",GARD,Myotonic dystrophy type 1 +What is (are) Achalasia ?,"Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. Achalasia is typically diagnosed in individuals between 25 and 60 years of age. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox, medications, or surgery.",GARD,Achalasia +What are the symptoms of Achalasia ?,"What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.",GARD,Achalasia +What causes Achalasia ?,"What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears to be inherited. There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population.",GARD,Achalasia +How to diagnose Achalasia ?,"How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful.",GARD,Achalasia +What are the treatments for Achalasia ?,"How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter Surgery (Heller myotomy) to decrease the pressure in the lower sphincter Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy) You can learn more about these treatment options by clicking on the following links: eMedicine Esophageal Motility Disorders Merck Manuals Motility Disorders A doctor should help to determine the best treatment for each individual situation.",GARD,Achalasia +"What are the symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ?","What are the signs and symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive external ophthalmoplegia, autosomal recessive 1 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset 75% Cardiomyopathy 7.5% Dyschromatopsia 5% Optic atrophy 5% Visual impairment 5% Areflexia - Autosomal recessive inheritance - Bradykinesia - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Distal muscle weakness - Dysarthria - Dysphagia - Dysphonia - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Emotional lability - Exercise intolerance - Facial palsy - Gait ataxia - Generalized amyotrophy - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased CSF protein - Increased variability in muscle fiber diameter - Limb ataxia - Mildly elevated creatine phosphokinase - Mitochondrial myopathy - Mitral regurgitation - Mitral valve prolapse - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism - Pes cavus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Respiratory insufficiency due to muscle weakness - Rigidity - Sensory ataxic neuropathy - Sensory axonal neuropathy - Steppage gait - Subsarcolemmal accumulations of abnormally shaped mitochondria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Progressive external ophthalmoplegia, autosomal recessive 1" +What is (are) Fournier gangrene ?,"Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. Most cases of Fournier gangrene are caused by an infection in the genital area or urinary tract. People with impaired immunity (i.e. due to diabetes or HIV) have an increased susceptibility to the condition. Treatment generally includes surgery and medications such as antibiotics and/or antifungal therapy.",GARD,Fournier gangrene +What are the symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears ?,"What are the signs and symptoms of Woolly hair hypotrichosis everted lower lip and outstanding ears? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair hypotrichosis everted lower lip and outstanding ears. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 90% Aplasia/Hypoplasia of the eyebrow 50% Hypopigmentation of hair 50% Pili torti 50% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Arrhythmia 7.5% Cataract 7.5% Delayed skeletal maturation 7.5% Hypertrophic cardiomyopathy 7.5% Neurological speech impairment 7.5% Palmoplantar keratoderma 7.5% Retinopathy 7.5% Hypotrichosis - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Woolly hair hypotrichosis everted lower lip and outstanding ears +What is (are) Restless legs syndrome ?,"Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away, at least temporarily. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45 and progresses slowly. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly. Restless legs syndrome likely results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. Treatment is based on the signs and symptoms present in each person.",GARD,Restless legs syndrome +What is (are) Ligneous conjunctivitis ?,"Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. A systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The cause of ligneous conjunctivitis is unknown. Autosomal recessive inheritance has been suggested in some cases. Ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiency.",GARD,Ligneous conjunctivitis +What are the symptoms of Carnevale syndrome ?,"What are the signs and symptoms of Carnevale syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnevale syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Intellectual disability 5% Radioulnar synostosis 5% Abnormality of the vertebrae - Autosomal recessive inheritance - Blepharophimosis - Broad forehead - Broad philtrum - Cleft palate - Cleft upper lip - Craniosynostosis - Cryptorchidism - Depressed nasal tip - Diastasis recti - Downturned corners of mouth - Epicanthus inversus - Highly arched eyebrow - Hip dislocation - Hypertelorism - Hypoplasia of the musculature - Joint hypermobility - Partial abdominal muscle agenesis - Postnatal growth retardation - Prominence of the premaxilla - Prominent nasal bridge - Ptosis - Strabismus - Torticollis - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carnevale syndrome +What are the symptoms of Spondyloepimetaphyseal dysplasia X-linked ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior wedging of T11 - Anterior wedging of T12 - Brachydactyly syndrome - Broad long bone diaphyses - Broad metacarpals - Broad phalanx - Cone-shaped epiphyses fused within their metaphyses - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Disproportionate short-trunk short stature - Flat acetabular roof - Hypoplasia of the maxilla - Hypoplasia of the odontoid process - Kyphosis - Limited elbow extension - Long fibula - Long ulna - Metaphyseal irregularity - Narrow pelvis bone - Pectus carinatum - Platyspondyly - Posterior rib cupping - Prominent styloid process of ulna - Radial deviation of the hand - Short clavicles - Short foot - Short long bone - Short metacarpal - Short palm - Short phalanx of finger - Spondyloepimetaphyseal dysplasia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepimetaphyseal dysplasia X-linked +What is (are) Mucopolysaccharidosis type IVA ?,"Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum, and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. MPS IVA is caused by changes (mutations) in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Mucopolysaccharidosis type IVA +What are the symptoms of Mucopolysaccharidosis type IVA ?,"What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% Autosomal recessive inheritance - Cervical myelopathy - Cervical subluxation - Chondroitin sulfate excretion in urine - Constricted iliac wings - Coxa valga - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Grayish enamel - Hepatomegaly - Hypoplasia of the odontoid process - Inguinal hernia - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Mandibular prognathia - Metaphyseal widening - Osteoporosis - Ovoid vertebral bodies - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Ulnar deviation of the wrist - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type IVA +"What are the symptoms of Thyrotropin deficiency, isolated ?","What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Coarse facial features 90% Constipation 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Congenital hypothyroidism - Depressed nasal bridge - Hoarse cry - Intellectual disability, progressive - Intellectual disability, severe - Macroglossia - Omphalocele - Severe postnatal growth retardation - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Thyrotropin deficiency, isolated" +What are the symptoms of Fructosuria ?,"What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Impairment of fructose metabolism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fructosuria +What is (are) Pycnodysostosis ?,"Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities. Pycnodysostosis is an autosomal recessive genetic condition. The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Management is symptomatic. Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.",GARD,Pycnodysostosis +What are the symptoms of Pycnodysostosis ?,"What are the signs and symptoms of Pycnodysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pycnodysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the clavicle 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Brachydactyly syndrome 90% Delayed eruption of teeth 90% Frontal bossing 90% High forehead 90% Malar flattening 90% Osteolysis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of dental morphology 50% Anonychia 50% Blue sclerae 50% Bone pain 50% Proptosis 50% Wormian bones 50% Abnormal pattern of respiration 7.5% Abnormality of pelvic girdle bone morphology 7.5% Anemia 7.5% Cognitive impairment 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Narrow chest 7.5% Osteomyelitis 7.5% Splenomegaly 7.5% Abnormality of the thorax - Absent frontal sinuses - Autosomal recessive inheritance - Carious teeth - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Hypodontia - Increased bone mineral density - Narrow palate - Osteolytic defects of the distal phalanges of the hand - Persistence of primary teeth - Persistent open anterior fontanelle - Prominent nose - Prominent occiput - Ridged nail - Scoliosis - Spondylolisthesis - Spondylolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pycnodysostosis +What is (are) Deafness and myopia syndrome ?,"Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. Deafness and myopia syndrome is caused by changes (mutations) in the SLITRK6 gene and is inherited in an autosomal recessive manner. Treatment aims to improve hearing loss and correct myopia. Cochlear implantation may be an option for some affected people.",GARD,Deafness and myopia syndrome +What are the symptoms of Deafness and myopia syndrome ?,"What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Conductive hearing impairment - Hematuria - Intellectual disability - Myopia - Proteinuria - Severe Myopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Deafness and myopia syndrome +What are the symptoms of Ramos Arroyo Clark syndrome ?,"What are the signs and symptoms of Ramos Arroyo Clark syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Cognitive impairment 90% Corneal dystrophy 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Inflammatory abnormality of the eye 90% Lacrimation abnormality 90% Large face 90% Malar flattening 90% Sensorineural hearing impairment 90% Upslanted palpebral fissure 90% Visual impairment 90% Aganglionic megacolon 50% Patent ductus arteriosus 50% Abnormality of the upper urinary tract 7.5% Apnea 7.5% Atria septal defect 7.5% Absent retinal pigment epithelium - Anteverted nares - Autosomal dominant inheritance - Broad eyebrow - Decreased corneal sensation - Failure to thrive - Hypoplasia of midface - Intellectual disability - Keratitis - Low-set ears - Reduced visual acuity - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ramos Arroyo Clark syndrome +What is (are) Glutathione synthetase deficiency ?,"Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion.",GARD,Glutathione synthetase deficiency +What are the symptoms of Glutathione synthetase deficiency ?,"What are the signs and symptoms of Glutathione synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutathione synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Abnormality of metabolism/homeostasis 90% Abnormality of the nervous system 90% Anemia 90% Ataxia - Autosomal recessive inheritance - Chronic metabolic acidosis - Dysarthria - Glutathione synthetase deficiency - Hemolytic anemia - Intellectual disability - Intention tremor - Neutropenia - Pigmentary retinopathy - Psychotic mentation - Seizures - Spastic tetraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glutathione synthetase deficiency +What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ?,"Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.",GARD,Nonspherocytic hemolytic anemia due to hexokinase deficiency +What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ?,"What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.. However, the anemia associated with hexokinase deficiency is generally more severe. There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Nonspherocytic hemolytic anemia due to hexokinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Congenital onset - Hyperbilirubinemia - Jaundice - Nonspherocytic hemolytic anemia - Normochromic anemia - Normocytic anemia - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nonspherocytic hemolytic anemia due to hexokinase deficiency +What causes Nonspherocytic hemolytic anemia due to hexokinase deficiency ?,"What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. This enzyme plays an important role in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy; if an enzyme is defective in any one of the stages, the red blood cell cannot function properly and hemolysis takes place. When red blood cells cannot be replaced faster than they destroy themselves, anemia results.",GARD,Nonspherocytic hemolytic anemia due to hexokinase deficiency +Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ?,"How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The parents of an individual with an autosomal recessive condition each have one mutated copy of the gene in each cell and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to be unaffected and have 2 normal copies of the gene.",GARD,Nonspherocytic hemolytic anemia due to hexokinase deficiency +What are the treatments for Nonspherocytic hemolytic anemia due to hexokinase deficiency ?,"How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified.",GARD,Nonspherocytic hemolytic anemia due to hexokinase deficiency +What is (are) Isobutyryl-CoA dehydrogenase deficiency ?,"Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner.",GARD,Isobutyryl-CoA dehydrogenase deficiency +What are the symptoms of Isobutyryl-CoA dehydrogenase deficiency ?,"What are the signs and symptoms of Isobutyryl-CoA dehydrogenase deficiency? Infants with IBD deficiency usually appear healthy at birth. The signs and symptoms of IBD deficiency may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy). IBD deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause IBD deficiency may never experience any signs and symptoms of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Isobutyryl-CoA dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Decreased plasma carnitine - Dilated cardiomyopathy - Muscular hypotonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Isobutyryl-CoA dehydrogenase deficiency +What causes Isobutyryl-CoA dehydrogenase deficiency ?,"What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)? IBD deficiency is caused by mutations in the ACAD8 gene. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.",GARD,Isobutyryl-CoA dehydrogenase deficiency +Is Isobutyryl-CoA dehydrogenase deficiency inherited ?,"How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Isobutyryl-CoA dehydrogenase deficiency +What are the treatments for Isobutyryl-CoA dehydrogenase deficiency ?,"How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) treated? There is no standard treatment protocol for IBD deficiency. Infants diagnosed through newborn screening are encouraged to work with a metabolic disease specialist and a dietician experienced in metabolic disorders. Some treatments may be recommended even if no symptoms have been observed. Treatment may be needed throughout life. The following treatments may be recommended for some babies and children with IBD deficiency. Children with IBD deficiency may be helped by taking L-carnitine, a safe and natural substance which helps the body's cells make energy and get rid of harmful wastes. L-carnitine may also help to prevent or treat the heart problems and anemia seen in children with IBD deficiency. Children with IBD deficiency are advised to avoid fasting. Going without food for a long time causes the body to use its stores of fat and protein for energy. In some people with IBD deficiency, this may lead to the build up of harmful substances in the blood. Eating frequently (every 4 to 6 hours) may help to avoid these health effects. While most children with IBD deficiency do fine without a change in diet, a low-valine food plan might be necessary. Valine is found in all foods with protein. Foods high in valine, such as dairy products, meat, poultry, fish, eggs, dried beans and legumes, nuts and peanut butter should be limited. There are medical foods such low-protein flours, pastas, rice, and special formulas that are made especially for people with organic acid disorders. Your dietician / physician can advise you on whether you should use these foods to supplement your childs diet.",GARD,Isobutyryl-CoA dehydrogenase deficiency +What are the symptoms of Congenital myasthenic syndrome with episodic apnea ?,"What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic apnea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the immune system - Apneic episodes precipitated by illness, fatigue, stress - Autosomal recessive inheritance - Bulbar palsy - Congenital onset - Decreased miniature endplate potentials - Dysphagia - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Generalized hypotonia due to defect at the neuromuscular junction - Ophthalmoparesis - Poor suck - Ptosis - Respiratory distress - Respiratory insufficiency due to muscle weakness - Strabismus - Sudden episodic apnea - Type 2 muscle fiber atrophy - Weak cry - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital myasthenic syndrome with episodic apnea +What are the symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity ?,"What are the signs and symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrauterine growth retardation with increased mitomycin C sensitivity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of chromosome stability - Autosomal recessive inheritance - Intrauterine growth retardation - Microcephaly - Pancytopenia - Postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Intrauterine growth retardation with increased mitomycin C sensitivity +What are the symptoms of Tetraploidy ?,"What are the signs and symptoms of Tetraploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Microcephaly 90% Narrow forehead 90% Hypoplasia of the ear cartilage 50% Radial club hand 50% Short philtrum 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Aplasia/Hypoplasia of the thymus 7.5% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Preauricular skin tag 7.5% Renal hypoplasia/aplasia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tetraploidy +What is (are) Prurigo nodularis ?,"Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging.",GARD,Prurigo nodularis +What are the treatments for Prurigo nodularis ?,"Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat. Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments may need to be tried. You can read further treatment information by visiting the American Osteopathic College of Dermatology (ACOD) information page on prurigo nodularis. Click here to view the page from the ACOD.",GARD,Prurigo nodularis +What are the symptoms of Gorlin Chaudhry Moss syndrome ?,"What are the signs and symptoms of Gorlin Chaudhry Moss syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Chaudhry Moss syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot 90% Abnormality of the metacarpal bones 90% Coarse hair 90% Cognitive impairment 90% Conductive hearing impairment 90% Craniosynostosis 90% Hypertelorism 90% Hypertrichosis 90% Low anterior hairline 90% Nystagmus 90% Reduced number of teeth 90% Short stature 90% Abnormality of bone mineral density 50% Aplasia/Hypoplasia involving the nose 50% Astigmatism 50% Patent ductus arteriosus 50% Sclerocornea 50% Umbilical hernia 50% Cleft eyelid 7.5% Anonychia 5% Bifid nasal tip 5% Cutaneous syndactyly 5% Low posterior hairline 5% Small nail 5% Synophrys 5% Autosomal recessive inheritance - Brachycephaly - Coronal craniosynostosis - Dental malocclusion - High palate - Hypermetropia - Hypodontia - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic labia majora - Malar flattening - Microdontia - Microphthalmia - Narrow palate - Posteriorly rotated ears - Ptosis - Short distal phalanx of finger - Short distal phalanx of toe - Small palpebral fissure - Underdeveloped supraorbital ridges - Upper eyelid coloboma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gorlin Chaudhry Moss syndrome +What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ?,"Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children.",GARD,Neuropathy ataxia retinitis pigmentosa syndrome +What are the symptoms of Neuropathy ataxia retinitis pigmentosa syndrome ?,"What are the signs and symptoms of Neuropathy ataxia retinitis pigmentosa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy ataxia retinitis pigmentosa syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Blindness - Corticospinal tract atrophy - Dementia - Mitochondrial inheritance - Mitochondrial myopathy - Myopathy - Nystagmus - Proximal muscle weakness - Retinal pigment epithelial mottling - Rod-cone dystrophy - Seizures - Sensory neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuropathy ataxia retinitis pigmentosa syndrome +What is (are) Hepatoblastoma ?,"Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome). Treatment varies based on the severity of the condition but may include a combination of surgery, watchful waiting, chemotherapy, and/or radiation therapy.",GARD,Hepatoblastoma +What are the symptoms of Hepatoblastoma ?,"What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hepatoblastoma +What are the symptoms of Pseudoaminopterin syndrome ?,"What are the signs and symptoms of Pseudoaminopterin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoaminopterin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Arachnodactyly - Autosomal recessive inheritance - Brachycephaly - Brachydactyly syndrome - Cleft palate - Clinodactyly - Cryptorchidism - Decreased body weight - Frontal bossing - Frontal upsweep of hair - High palate - Highly arched eyebrow - Hypertelorism - Inguinal hernia - Intrauterine growth retardation - Joint contracture of the hand - Low-set ears - Macrocephaly - Megalencephaly - Microcephaly - Muscular hypotonia - Narrow forehead - Oligodontia - Phenotypic variability - Posteriorly rotated ears - Rudimentary postaxial polydactyly of hands - Short stature - Short thumb - Small palpebral fissure - Syndactyly - Thoracic scoliosis - Umbilical hernia - Underdeveloped supraorbital ridges - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudoaminopterin syndrome +What are the symptoms of Rommen Mueller Sybert syndrome ?,"What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the nipple 50% Abnormality of the ribs 50% Anterior creases of earlobe 50% Downturned corners of mouth 50% Long palpebral fissure 50% Long philtrum 50% Plagiocephaly 50% Proximal placement of thumb 50% Single transverse palmar crease 50% Tetralogy of Fallot 50% Ventricular septal defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rommen Mueller Sybert syndrome +What is (are) Gardner syndrome ?,"Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.",GARD,Gardner syndrome +What are the symptoms of Gardner syndrome ?,"What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other features of Gardner syndrome may include: Dental abnormalities Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas Adrenal masses Desmoid tumors Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland) The Human Phenotype Ontology provides the following list of signs and symptoms for Gardner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenomatous colonic polyposis 90% Intestinal polyposis 90% Duodenal polyposis 50% Neoplasm of the colon 50% Colon cancer 33% Multiple gastric polyps 33% Adrenocortical adenoma 13% Carious teeth 7.5% Congenital hypertrophy of retinal pigment epithelium 7.5% Delayed eruption of teeth 7.5% Epidermoid cyst 7.5% Fibroadenoma of the breast 7.5% Increased number of teeth 7.5% Irregular hyperpigmentation 7.5% Multiple lipomas 7.5% Neoplasm of the nervous system 7.5% Odontogenic neoplasm 7.5% Osteoma 7.5% Sarcoma 7.5% Unerupted tooth 7.5% Hepatoblastoma 1.6% Medulloblastoma 1% Duodenal adenocarcinoma % Papillary thyroid carcinoma % Adrenocortical carcinoma - Astrocytoma - Autosomal dominant inheritance - Hyperpigmentation of the skin - Keloids - Odontoma - Small intestine carcinoid - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gardner syndrome +What causes Gardner syndrome ?,"What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a ""tumor suppressor."" Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated.",GARD,Gardner syndrome +Is Gardner syndrome inherited ?,"How is Gardner syndrome inherited? Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Gardner syndrome +How to diagnose Gardner syndrome ?,"Is genetic testing available for Gardner syndrome? Yes, genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, genetic testing is generally offered to children by this age. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Gardner syndrome diagnosed? Gardner syndrome is diagnosed based on the following features: At least 100 colorectal polyps OR fewer than 100 polyps and a family member with Familial Adenomatous Polyposis or Gardner syndrome Osteomas (bony growths) Soft tissue tumors such as epidermoid cysts, fibromas, and desmoid tumors These symptoms are usually identified using a combination of physical examination, colonoscopy, and X-rays of the long bones and/or jaw bone. The presence of other signs and symptoms such as stomach or small intestinal polyps; congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina); and/or associated cancers, supports the diagnosis. A diagnosis of Gardner syndrome can be confirmed by the identification of a disease-causing change (mutation) in the APC gene.",GARD,Gardner syndrome +What are the treatments for Gardner syndrome ?,"How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include: Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon). EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years. Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years. Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people. A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum. Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy. Osteomas (bony growths) may be removed for cosmetic reasons. Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision. For more information on the treatment and management of Gardner syndrome, please click here.",GARD,Gardner syndrome +What is (are) Pili annulati ?,"Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as ""striped"" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.",GARD,Pili annulati +What are the symptoms of Pili annulati ?,"What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fine hair 90% Abnormality of the hair - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pili annulati +What is (are) Necrotizing fasciitis ?,"Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. If the infection is not treated promptly, it can lead to multiple organ failure and death. As a result, prompt diagnosis and treatment is essential. Treatment typically includes intravenous antibiotics and surgery to remove infected and dead tissue.",GARD,Necrotizing fasciitis +What are the symptoms of Necrotizing fasciitis ?,"What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death.",GARD,Necrotizing fasciitis +What causes Necrotizing fasciitis ?,"What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis.",GARD,Necrotizing fasciitis +What are the treatments for Necrotizing fasciitis ?,"How might necrotizing fasciitis be treated? Accurate and prompt diagnosis, treatment with intravenous (IV) antibiotics, and surgery to remove dead tissue are all important for treating necrotizing fasciitis. Since the blood supply to the infected tissue is impaired, antibiotics cannot penetrate into the infected tissue. As a result, surgery to remove the dead, damaged, or infected tissue is the cornerstone of treatment for necrotizing fasciitis. In addition, early surgical treatment may minimize tissue loss, eliminating the need for amputation of the infected extremity. The choice of antibiotics will likely depend on the particular bacteria involved. Supplemental oxygen, fluids, and medicines may be needed to raise the blood pressure. Hyperbaric oxygen therapy and intravenous immunoglobulin may also be considered, but their use in patients with NF is considered controversial by some.",GARD,Necrotizing fasciitis +"What are the symptoms of Anti-plasmin deficiency, congenital ?","What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Anti-plasmin deficiency, congenital" +What is (are) Celiac artery compression syndrome ?,"Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament.",GARD,Celiac artery compression syndrome +What are the symptoms of Celiac artery compression syndrome ?,"What are the signs and symptoms of celiac artery compression syndrome? Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying.",GARD,Celiac artery compression syndrome +What causes Celiac artery compression syndrome ?,"What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. It has been suggested that nerve dysfunction might additionally be involved, which could explain some of the associated symptoms such as pain and delayed gastric emptying.",GARD,Celiac artery compression syndrome +How to diagnose Celiac artery compression syndrome ?,"How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and rule out other similarly presenting disorders. Imaging methodologies might include: CT angiography, MRI, ultrasound, and arteriography.",GARD,Celiac artery compression syndrome +What are the treatments for Celiac artery compression syndrome ?,"How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgical decompression might additionally be combined with stent placement, angioplasty, or vascular reconstruction of the celiac artery.",GARD,Celiac artery compression syndrome +What is (are) Mucopolysaccharidosis type IIIB ?,"Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.",GARD,Mucopolysaccharidosis type IIIB +What are the symptoms of Mucopolysaccharidosis type IIIB ?,"What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cardiomegaly - Coarse facial features - Coarse hair - Dense calvaria - Diarrhea - Dysostosis multiplex - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Juvenile onset - Ovoid thoracolumbar vertebrae - Progressive neurologic deterioration - Recurrent upper respiratory tract infections - Seizures - Sleep disturbance - Splenomegaly - Synophrys - Thickened ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mucopolysaccharidosis type IIIB +What are the symptoms of Charcot-Marie-Tooth disease type 2J ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2J +"What are the symptoms of Epidermolysis bullosa, lethal acantholytic ?","What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa, lethal acantholytic" +What is (are) VLCAD deficiency ?,"VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,VLCAD deficiency +What are the symptoms of VLCAD deficiency ?,"What are the signs and symptoms of VLCAD deficiency? There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a later-onset episodic myopathic form. Signs and symptoms of the severe, early-onset form occur in the first few months of life and include cardiomyopathy (heart disease), pericardial effusion (fluid around the heart), heart arrhythmias (abnormal heart beat), low muscle tone, enlarged liver, and intermittent hypoglycemia (low blood sugar). The heart problems can be life threatening, but are often improved with early treatment and diet modifications. People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). ""Hypoketotic"" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called ""hypoketotic hypoglycemia."" The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis. Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.",GARD,VLCAD deficiency +What causes VLCAD deficiency ?,"What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.",GARD,VLCAD deficiency +Is VLCAD deficiency inherited ?,"Is VLCAD deficiency inherited? VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.",GARD,VLCAD deficiency +How to diagnose VLCAD deficiency ?,"How is VLCAD deficiency diagnosed? A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. This testing may include specialized tests performed on a sample of blood, urine, skin cells, muscle, and/or liver tissue. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis. GeneReview's Web site offers more specific information about the diagnosis of VLCAD deficiency. Please click on the link to access this resource.",GARD,VLCAD deficiency +What are the treatments for VLCAD deficiency ?,"How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.",GARD,VLCAD deficiency +What are the symptoms of Irons Bhan syndrome ?,"What are the signs and symptoms of Irons Bhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Irons Bhan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Atria septal defect - Atrial flutter - Autosomal recessive inheritance - Broad nasal tip - Delayed speech and language development - Depressed nasal bridge - Epicanthus - High forehead - Hydrocele testis - Lymphedema - Oligohydramnios - Omphalocele - Overriding aorta - Patent ductus arteriosus - Prominent forehead - Round face - Severe hydrops fetalis - Telecanthus - Upslanted palpebral fissure - Vascular ring - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Irons Bhan syndrome +What is (are) Dermatofibrosarcoma protuberans ?,"Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.",GARD,Dermatofibrosarcoma protuberans +What are the symptoms of Dermatofibrosarcoma protuberans ?,"What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermatofibrosarcoma protuberans +What causes Dermatofibrosarcoma protuberans ?,"What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.",GARD,Dermatofibrosarcoma protuberans +"What is (are) Familial amyloidosis, Finnish type ?","Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa (""sagging"" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.",GARD,"Familial amyloidosis, Finnish type" +"What are the symptoms of Familial amyloidosis, Finnish type ?","What are the signs and symptoms of Familial amyloidosis, Finnish type? Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits in the cornea (lattice corneal dystrophy), cutis laxa (sagging skin), and nervous system symptoms (neuropathy). Eye symptoms typically begin first. The amyloid deposits cloud the cornea, often leading to vision impairment. Other eye symptoms may include dryness, irritation and light sensitivity. Affected individuals may eventually develop cataracts and glaucoma. As the condition progresses, the nerves become involved (typically in an individual's 40s). Dysfunction of the nerves in the head and face (cranial nerves) causes paralysis of facial muscles and decreased sensation, which can lead to difficulty speaking, chewing, and swallowing. Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (ptosis). Affected individuals may also have peripheral neuropathy. Central nervous system symptoms such as impaired cognitive function are rare but have been reported in older individuals. Skin manifestations may also begin in a person's 40s and include a thickened, sagging appearance and cutis laxa (loose skin that lacks elasticity), especially on the face. Cutis laxa worsens with age. Other signs and symptoms that have been reported in some people include gastric motility changes, orodental problems, heart palpitations, cardiac conduction problems, and mild proteinuria. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial amyloidosis, Finnish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdomen - Adult onset - Autosomal dominant inheritance - Bulbar palsy - Cardiomyopathy - Cutis laxa - Generalized amyloid deposition - Lattice corneal dystrophy - Nephrotic syndrome - Polyneuropathy - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Familial amyloidosis, Finnish type" +What are the symptoms of Dystonia 16 ?,"What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystonia 16 +What is (are) Erythema multiforme ?,"Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).",GARD,Erythema multiforme +What are the symptoms of Tricho-dento-osseous syndrome 1 ?,"What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tricho-dento-osseous syndrome 1 +What is (are) Tracheobronchomalacia ?,"Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and most people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the secondary form often occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways. Treatment is generally only required in those who have signs and symptoms of the condition and may include stenting, surgical correction, continuous positive airway pressure (CPAP), and tracheostomy.",GARD,Tracheobronchomalacia +What are the symptoms of Tracheobronchomalacia ?,"What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.",GARD,Tracheobronchomalacia +What causes Tracheobronchomalacia ?,"What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway",GARD,Tracheobronchomalacia +Is Tracheobronchomalacia inherited ?,"Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the disorder in their family. When TBM is part of a genetic condition, it can be passed on to future generations. Secondary TBM (also called acquired TBM) is not inherited. It generally occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways.",GARD,Tracheobronchomalacia +How to diagnose Tracheobronchomalacia ?,"How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition. TBM is considered mild if the trachea narrows to 50% of its initial size while the affected person is breathing out, moderate if it narrows to 25%, and severe if the walls of the trachea touch.",GARD,Tracheobronchomalacia +What are the treatments for Tracheobronchomalacia ?,"How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial treatment will target these underlying medical concerns. If symptoms persist, people with TBM may undergo pulmonary function tests or other assessments to help guide therapy choice and allow monitoring of the response to treatment. Treatment options may include: Silicone and/or long-term stenting Surgical correction Continuous positive airway pressure (CPAP) Tracheostomy (often used as a last resort as it can sometimes worsen TBM) We strongly recommend that you discuss your treatment options with a healthcare provider.",GARD,Tracheobronchomalacia +What are the symptoms of Pulmonic stenosis ?,"What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Atria septal defect 50% Pulmonic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pulmonic stenosis +What is (are) Acquired pure red cell aplasia ?,"Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cause of acquired PRCA is unknown (idiopathic). In other cases it may occur secondary to autoimmune disorders, tumors of the thymus gland (thymomas), hematologic cancers, solid tumors, viral infections, or certain drugs. Treatment depends on the cause of the condition (if known) but often includes transfusions for individuals who are severely anemic and have cardiorespiratory failure.",GARD,Acquired pure red cell aplasia +What are the treatments for Acquired pure red cell aplasia ?,"How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood transfusions for individuals who are severely anemic and have cardiorespiratory failure. PRCA due to medication or infections is usually reversible within a few months. Therefore, medications that may be causing the condition should be discontinued, and infections that may cause the condition should be treated. Underlying conditions that may cause PRCA such as a thymoma, hematological cancers, solid tumors, and systemic lupus erythematosus (SLE) should be treated as necessary as well. When the condition is idiopathic (of unknown cause) or due to an autoimmune disorder, PRCA is typically initially treated with corticosteroids. It has been reported that individuals who seem to be resistant to treatment may respond to a single course of intravenous immunoglobulin (IVIG,) while others have responded to a single dose. In the United States, financial issues may make it difficult to obtain this treatment because IVIG is expensive and is not approved by the Food and Drug Administration to treat PRCA. Additional and more detailed information about the management of acquired PRCA may be found on eMedicine's web site and can be viewed by clicking here.",GARD,Acquired pure red cell aplasia +What is (are) Orofaciodigital syndrome 1 ?,"Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.",GARD,Orofaciodigital syndrome 1 +What are the symptoms of Orofaciodigital syndrome 1 ?,"What are the signs and symptoms of Orofaciodigital syndrome 1? Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palate, hypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female. The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid tongue 90% Broad alveolar ridges 90% Cleft upper lip 90% Frontal bossing 90% Hypertelorism 90% Wide nasal bridge 90% Abnormality of the nares 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cone-shaped epiphysis 50% Facial asymmetry 50% Finger syndactyly 50% Foot polydactyly 50% Incoordination 50% Reduced bone mineral density 50% Reduced number of teeth 50% Seizures 50% Short toe 50% Underdeveloped nasal alae 50% Pancreatic cysts 29% Abnormality of dental enamel 7.5% Alopecia 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Choanal atresia 7.5% Coarse hair 7.5% Cystic liver disease 7.5% Dandy-Walker malformation 7.5% Dental malocclusion 7.5% Dry skin 7.5% Elevated hepatic transaminases 7.5% Epicanthus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoplasia of the zygomatic bone 7.5% Lip pit 7.5% Multicystic kidney dysplasia 7.5% Odontogenic neoplasm 7.5% Otitis media 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Tarsal synostosis 7.5% Telecanthus 7.5% Tremor 7.5% Myelomeningocele 5% Abnormal cortical gyration - Abnormal heart morphology - Abnormality of the cerebellum - Abnormality of toe - Agenesis of corpus callosum - Agenesis of permanent teeth - Alveolar ridge overgrowth - Arachnoid cyst - Carious teeth - Clinodactyly - Congenital onset - Gray matter heterotopias - Hepatic cysts - Hepatic fibrosis - High palate - Hydrocephalus - Hypoplasia of dental enamel - Hypothalamic hamartoma - Increased number of teeth - Intellectual disability - Lobulated tongue - Low-set ears - Median cleft lip - Microcephaly - Microretrognathia - Milia - Ovarian cyst - Polycystic kidney dysplasia - Polydactyly - Porencephaly - Radial deviation of finger - Short stature - Sparse hair - Syndactyly - Tongue nodules - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Orofaciodigital syndrome 1 +How to diagnose Orofaciodigital syndrome 1 ?,Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1 is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected. A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1. You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1.,GARD,Orofaciodigital syndrome 1 +What are the symptoms of Arachnodactyly - intellectual disability - dysmorphism ?,"What are the signs and symptoms of Arachnodactyly - intellectual disability - dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Arachnodactyly - intellectual disability - dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Decreased body weight 90% Long face 90% Long toe 90% Narrow face 90% Thin vermilion border 90% Trismus 90% Abnormality of calvarial morphology 50% Abnormality of immune system physiology 50% Abnormality of the genital system 50% Clinodactyly of the 5th finger 50% Hypertelorism 50% Hypertonia 50% Joint hypermobility 50% Long philtrum 50% Microcephaly 50% Narrow mouth 50% Pointed chin 50% Strabismus 50% Triphalangeal thumb 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Arachnodactyly - intellectual disability - dysmorphism +What are the symptoms of Malonyl-CoA decarboxylase deficiency ?,"What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Malonyl-CoA decarboxylase deficiency +What are the symptoms of Pontocerebellar hypoplasia type 5 ?,"What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Microcephaly - Olivopontocerebellar hypoplasia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pontocerebellar hypoplasia type 5 +What are the symptoms of Familial multiple trichodiscomas ?,"What are the signs and symptoms of Familial multiple trichodiscomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial multiple trichodiscomas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial multiple trichodiscomas +What are the symptoms of Small cell carcinoma of the bladder ?,"What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hematuria 90% Urinary tract neoplasm 90% Abdominal pain 7.5% Hypercalcemia 7.5% Recurrent urinary tract infections 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Small cell carcinoma of the bladder +What is (are) Ledderhose disease ?,"Ledderhose disease is a type of plantar fibromatosis characterized by thickening of the foot's deep connective tissue. While many individuals with Ledderhose disease do not experience symptoms, over time the condition may progress, causing considerable pain when walking. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have been reported in association with the development of this condition. Heredity is also a clear factor in many patients. Often, patients with Ledderhose disease also have other fibrosing conditions such as Dupuytren contracture, knuckle pads, or Peyronie disease. The exact prevalence of Ledderhose disease is unknown, with some studies stating it is rare, and others stating it is a common condition.",GARD,Ledderhose disease +What are the symptoms of Ledderhose disease ?,"What are the signs and symptoms of Ledderhose disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ledderhose disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Lack of skin elasticity 90% Paresthesia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ledderhose disease +What are the treatments for Ledderhose disease ?,"How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. Surgery, such as selective fasciectomy or dermofasciectomy, has been used as treatment of people who do not respond to initial therapy. Recurrence following surgery is common. Collagenase injection is an additional therapy which has been used with variable sucess. Our search identified one case report describing the use of ""upper lateral arm flaps"" on the feet of two brother's who had multiple recurrences following other procedures. The reference for this article is provided below. Kan HJ, Hovius SE. Long-term follow-up of flaps for extensive Dupuytren's and Ledderhose disease in one family. J Plast Reconstr Aesthet Surg. 2012 December;65(12):1741-5. The International Dupyytren Society provides futher information on treatment options for Ledderhose disease at the following link: http://www.dupuytren-online.info/ledderhose_therapies.html We strongly recommend that you review this information with your healthcare providers. Only a healthcare provider can help you make decisions regarding which treatment approach may be best for you.",GARD,Ledderhose disease +What is (are) Langerhans cell histiocytosis ?,"Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. The symptoms vary among affected individuals, and the cause of LCH is unknown. In most cases, this condition is not life-threatening. Some people do experience life-long problems associated with LCH.",GARD,Langerhans cell histiocytosis +What are the symptoms of Langerhans cell histiocytosis ?,"What are the signs and symptoms of Langerhans cell histiocytosis? Symptoms of Langerhans cell histiocytosis (LCH) can vary greatly from person to person depending on how much of the body is involved and what part(s) are affected. The disease can affect virtually every organ, including skin, bones, lymph nodes, bone marrow, liver, spleen, lungs, gastrointestinal tract, thymus, central nervous system, and hormone glands. The symptoms may range from localized bone lesions or skin disease to multiple organ involvement and severe dysfunction. Below are the organs that may be affected as well as the symptoms that might be observed: Skin - Red, scaly papules in areas where opposing skin surfaces touch or rub (e.g. skin folds) are commonly seen in LCH. Infants with the skin presentation on the scalp are often misdiagnosed with cradle cap. The skin symptoms usually improve without treatment. Bone - Lesions that cause bone destruction are common, with the skull, lower limbs, ribs, pelvis, and vertebrae usually being affected. Symptoms may include pain, swelling, limited motion, and inability to bear weight. Lymph node - Lymph node involvement may be limited or associated with a skin or bone lesion or disseminated disease. Although any of the lymph nodes may be affected, the cervical lymph nodes are where the disease commonly occurs. Individuals usually only present with pain of the lymph node affected. If only one lymph node is affected, prognosis is normally good and treatment is unnecessary. Liver - Liver involvement at the time of diagnosis is generally associated with more severe disease. Symptoms may include ascites, jaundice, low levels of protein, and prolonged clotting time. Central nervous system (CNS) and hormone - CNS involvement is rare and may be devastating. The most common result of CNS involvement is the altering of hormonal function, with some individuals developing diabetes insipidus. More detailed information about the symptoms of LCH can be accessed through the Histiocytosis Association's website.",GARD,Langerhans cell histiocytosis +What causes Langerhans cell histiocytosis ?,What causes Langerhans cell histiocytosis? The cause of Langerhans cell histiocytosis is unknown. It may be triggered by an unusual reaction of the immune system to something commonly found in the environment. It is not considered to be an infection or cancer. It is not known to be hereditary or communicable.,GARD,Langerhans cell histiocytosis +Is Langerhans cell histiocytosis inherited ?,"Is Langerhans cell histiocytosis inherited? Although Langerhans cell histiocytosis is generally considered a sporadic, non-hereditary condition, it has reportedly affected more than one individual in a family in a very limited number of cases (particularly identical twins).",GARD,Langerhans cell histiocytosis +How to diagnose Langerhans cell histiocytosis ?,"How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. Additional information about the diagnosis of LCH can be viewed on the Histiocytosis Association's website.",GARD,Langerhans cell histiocytosis +What are the treatments for Langerhans cell histiocytosis ?,"How might Langerhans cell histiocytosis be treated? Treatment for Langerhans cell histiocytosis (LCH) depends upon the individual patient; it may differ depending on the type and severity of the condition as well as what part(s) of the body are affected. In some cases, the disease will regress without any treatment at all. In other cases, limited surgery and small doses of radiation therapy or chemotherapy will be needed, depending on the extent of the disease. Treatment is planned after complete evaluation of the patient, with the goal of using as little treatment as possible to keep the disease under control. Detailed information about the treatment of LCH can be viewed on Medscape Reference's Web site.",GARD,Langerhans cell histiocytosis +What are the symptoms of Mental retardation X-linked syndromic 7 ?,"What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Obesity 90% Tapered finger 90% Abnormal hair quantity 50% Abnormality of dental morphology 50% Hypoplasia of penis 50% Muscle weakness 50% Neurological speech impairment 50% Short stature 50% Cryptorchidism 7.5% Visual impairment 7.5% Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mental retardation X-linked syndromic 7 +"What are the symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias ?","What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Aplasia/Hypoplasia of the radius 90% Mandibular prognathia 90% Micromelia 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Diastema - Hypoplasia of the radius - Hypospadias - Nonopposable triphalangeal thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Radial hypoplasia, triphalangeal thumbs and hypospadias" +What is (are) Autoimmune hemolytic anemia ?,"Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/or splenomegaly. AIHA can be primary (idiopathic) or result from an underlying disease or medication. The condition may develop gradually or occur suddenly. There are two main types of autoimmune hemolytic anemia: warm antibody hemolytic anemia and cold antibody hemolytic anemia. Treatment may include corticosteroids such as prednisone, splenectomy, immunosuppressive drugs and/or blood transfusions.",GARD,Autoimmune hemolytic anemia +What are the symptoms of Autoimmune hemolytic anemia ?,"What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Hemolytic anemia 90% Migraine 90% Muscle weakness 90% Pallor 90% Respiratory insufficiency 90% Abnormality of the liver 50% Lymphoma 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 7.5% Splenomegaly 7.5% Abnormality of metabolism/homeostasis - Autoimmune hemolytic anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autoimmune hemolytic anemia +What causes Autoimmune hemolytic anemia ?,"What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include: Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV",GARD,Autoimmune hemolytic anemia +Is Autoimmune hemolytic anemia inherited ?,"Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with a genetics professional.",GARD,Autoimmune hemolytic anemia +What is (are) Primary orthostatic hypotension ?,"Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinsons disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or blackout. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.",GARD,Primary orthostatic hypotension +What is (are) Basilar migraine ?,"Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual changes, and loss of balance. Although basilar migraines can occur in men and women of all ages, they are most common in adolescent girls. The exact underlying cause is not well understood. However, migraines are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. In rare cases, the susceptibility to basilar migraines may be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. During episodes, affected people are typically treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms.",GARD,Basilar migraine +What are the symptoms of Basilar migraine ?,"What are the signs and symptoms of Basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea. The Human Phenotype Ontology provides the following list of signs and symptoms for Basilar migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. What are the signs and symptoms of a basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea.",GARD,Basilar migraine +What causes Basilar migraine ?,"What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. Scientists also suspect that nerve abnormalities and/or altered blood flow to certain parts of the brain (brainstem and occipital lobes, specifically) may also play a role in the development of basilar migraines. The susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, episodes of basilar migraines may occur in more than one family member.",GARD,Basilar migraine +Is Basilar migraine inherited ?,"Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a mutation in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these mutations has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Basilar migraine +How to diagnose Basilar migraine ?,"How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. These tests may include: Brain MRI MR angiogram (MRA) Electroencephalogram 24-hour heart monitor Specialized blood tests",GARD,Basilar migraine +What are the treatments for Basilar migraine ?,"How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with episodes of basilar migraines that are frequent, prolonged, or particularly debilitating, certain medications such as verapamil or topiramate may be prescribed as a preventative therapy.",GARD,Basilar migraine +What is (are) Epidermolytic ichthyosis ?,"Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.",GARD,Epidermolytic ichthyosis +What are the symptoms of Epidermolytic ichthyosis ?,"What are the signs and symptoms of Epidermolytic ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolytic ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Ichthyosis 90% Weight loss 90% Melanocytic nevus 50% Conjunctival hamartoma 7.5% Palmoplantar keratoderma 7.5% Skin ulcer 7.5% Autosomal dominant inheritance - Erythroderma - Palmoplantar hyperkeratosis - Scaling skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epidermolytic ichthyosis +Is Epidermolytic ichthyosis inherited ?,"How is epidermolytic ichthyosis inherited? Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children. Inherited cases of EI usually have an autosomal dominant inheritance pattern. This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations. Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier.",GARD,Epidermolytic ichthyosis +What are the symptoms of Oculocutaneous albinism type 1B ?,"What are the signs and symptoms of Oculocutaneous albinism type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Freckling 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Ocular albinism 90% Strabismus 90% Abnormality of the macula 50% Melanocytic nevus 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Neoplasm of the skin 7.5% Thickened skin 7.5% Albinism - Autosomal recessive inheritance - Hypopigmentation of the fundus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculocutaneous albinism type 1B +What is (are) Spinocerebellar ataxia 15 ?,"Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.",GARD,Spinocerebellar ataxia 15 +What are the symptoms of Spinocerebellar ataxia 15 ?,"What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 15 +"What is (are) Stickler syndrome, type 2 ?","Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.",GARD,"Stickler syndrome, type 2" +"What are the symptoms of Stickler syndrome, type 2 ?","What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Myopia 90% Opacification of the corneal stroma 90% Retinal detachment 90% Sensorineural hearing impairment 90% Cleft palate 50% Retinopathy 50% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Bifid uvula - Depressed nasal bridge - Flat midface - Glaucoma - Joint hypermobility - Long fingers - Malar flattening - Pierre-Robin sequence - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Stickler syndrome, type 2" +What is (are) Cone dystrophy ?,"Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.",GARD,Cone dystrophy +What are the symptoms of Cone dystrophy ?,"What are the signs and symptoms of Cone dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone dystrophy +How to diagnose Cone dystrophy ?,"How is cone dystrophy diagnosed? The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis. During an ERG, eye drops are used to numb the eye before a special contact lens recorder is placed on the eye. Then a series of flashes of light are used to stimulate the retina. Doctors can then measure the electrical response of the rods and cones to the light. The test is performed twice once in bright room and again in a dark room. A weak of absent signal of cone cells indicates cone dystrophy. More details about the diagnosis of cone dystrophy can be accessed through the University of Michigan Kellogg Eye Center.",GARD,Cone dystrophy +What are the symptoms of Marinesco-Sjogren syndrome ?,"What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Short stature 90% Strabismus 90% Abnormality of movement 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Hypertonia 50% Muscle weakness 50% Nystagmus 50% Pectus carinatum 50% Scoliosis 50% Skeletal muscle atrophy 50% Talipes 50% Microcephaly 7.5% Optic atrophy 7.5% Peripheral neuropathy 7.5% Autosomal recessive inheritance - Centrally nucleated skeletal muscle fibers - Cerebellar cortical atrophy - Congenital cataract - Coxa valga - Cubitus valgus - Dysarthria - Elevated serum creatine phosphokinase - Failure to thrive - Flexion contracture - Gait ataxia - Hypergonadotropic hypogonadism - Infantile onset - Intellectual disability - Kyphosis - Limb ataxia - Pes planus - Progressive muscle weakness - Short metacarpal - Short metatarsal - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Marinesco-Sjogren syndrome +What is (are) Atypical hemolytic uremic syndrome ?,"Atypical hemolytic-uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension), viral or bacterial infections, cancers, organ transplantation, and pregnancy. Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms.",GARD,Atypical hemolytic uremic syndrome +What are the symptoms of Atypical hemolytic uremic syndrome ?,"What are the signs and symptoms of Atypical hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Atypical hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Atypical hemolytic uremic syndrome +How to diagnose Atypical hemolytic uremic syndrome ?,"Is genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the ""testing"" link pertaining to each gene. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.",GARD,Atypical hemolytic uremic syndrome +What are the symptoms of Femur fibula ulna syndrome ?,"What are the signs and symptoms of Femur fibula ulna syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femur fibula ulna syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Finger syndactyly 90% Micromelia 90% Split hand 90% Abnormality of the elbow 50% Short stature 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Femur fibula ulna syndrome +What is (are) Alopecia areata ?,"Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complete loss of scalp hair (alopecia totalis) or total loss of all body hair (alopecia universalis). Although the exact cause of AA is unknown, roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of the condition. There is no cure or approved therapy for AA; however, some people find that medications approved for other purposes can help regrow hair.",GARD,Alopecia areata +What are the symptoms of Alopecia areata ?,"What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia areata +What is (are) Osteopetrosis autosomal recessive 4 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal recessive 4 +What are the symptoms of Osteopetrosis autosomal recessive 4 ?,"What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of hair texture 90% Abnormality of temperature regulation 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of visual evoked potentials 90% Anemia 90% Bone pain 90% Bowing of the long bones 90% Bruising susceptibility 90% Cognitive impairment 90% Craniosynostosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Hepatomegaly 90% Hydrocephalus 90% Increased bone mineral density 90% Lymphadenopathy 90% Macrocephaly 90% Narrow chest 90% Nystagmus 90% Optic atrophy 90% Pallor 90% Premature loss of primary teeth 90% Recurrent fractures 90% Recurrent respiratory infections 90% Reduced bone mineral density 90% Sinusitis 90% Splenomegaly 90% Tremor 90% Visual impairment 90% Skeletal muscle atrophy 50% Abnormality of coagulation 7.5% Abnormality of the pulmonary valve 7.5% Apnea 7.5% Cranial nerve paralysis 7.5% Hypocalcemia 7.5% Hypophosphatemia 7.5% Pulmonary hypertension 7.5% Autosomal recessive inheritance - Facial palsy - Hepatosplenomegaly - Osteopetrosis - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal recessive 4 +What are the symptoms of Short rib-polydactyly syndrome type 4 ?,"What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Anencephaly - Ascites - Atelectasis - Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Broad foot - Broad palm - Cystic renal dysplasia - Edema - Epicanthus - Flat face - Hamartoma of tongue - Hepatomegaly - High forehead - Holoprosencephaly - Horizontal ribs - Hydrocephalus - Hypertelorism - Hypoplastic nipples - Hypoplastic scapulae - Inguinal hernia - Intestinal malrotation - Intrauterine growth retardation - Limb undergrowth - Lobulated tongue - Low-set ears - Macrocephaly - Median cleft lip and palate - Narrow chest - Natal tooth - Neonatal death - Omphalocele - Patent ductus arteriosus - Patent foramen ovale - Periportal fibrosis - Polyhydramnios - Posteriorly rotated ears - Protuberant abdomen - Pulmonary hypoplasia - Renal hypoplasia - Respiratory insufficiency - Short finger - Short foot - Short long bone - Short neck - Short palm - Short ribs - Short thorax - Short toe - Splenomegaly - Thoracic dysplasia - Ventricular septal defect - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Short rib-polydactyly syndrome type 4 +"What are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ?","What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Abnormal blistering of the skin 50% Pruritus 50% Skin ulcer 50% Autosomal dominant inheritance - Diffuse palmoplantar keratoderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Diffuse palmoplantar keratoderma, Bothnian type" +What is (are) Congenital bilateral absence of the vas deferens ?,"Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.",GARD,Congenital bilateral absence of the vas deferens +What are the symptoms of Congenital bilateral absence of the vas deferens ?,"What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Azoospermia - Heterogeneous - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital bilateral absence of the vas deferens +What causes Congenital bilateral absence of the vas deferens ?,"What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.",GARD,Congenital bilateral absence of the vas deferens +Is Congenital bilateral absence of the vas deferens inherited ?,"How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased. The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members. We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.",GARD,Congenital bilateral absence of the vas deferens +How to diagnose Congenital bilateral absence of the vas deferens ?,"Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.",GARD,Congenital bilateral absence of the vas deferens +What is (are) Encephalitis lethargica ?,"Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses.",GARD,Encephalitis lethargica +"What is (are) Epidermolysis bullosa simplex, generalized ?","Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. All four major types of epidermolysis bullosa simplex, including the genralized type, are caused by mutations in the KRT5 and KRT14 genes. This condition is usually inherited in an autosomal dominant fashion.",GARD,"Epidermolysis bullosa simplex, generalized" +"What are the symptoms of Epidermolysis bullosa simplex, generalized ?","What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be mild involvement of the mucous membranes, fingernails and toenails. As individuals age, localized thickening of the skin on the soles of the feet and palms of the hands may occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, generalized. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Subcutaneous hemorrhage 90% Abnormal pattern of respiration 50% Abnormality of dental enamel 50% Abnormality of the nail 50% Hyperhidrosis 50% Ophthalmoparesis 50% Palmoplantar keratoderma 50% Ptosis 50% Fatigable weakness 7.5% Respiratory insufficiency 7.5% Milia 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal dominant inheritance - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Epidermolysis bullosa simplex, generalized" +"What are the treatments for Epidermolysis bullosa simplex, generalized ?","How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have minimal symptoms and may require little or no treatment. In all cases, treatment is directed towards the symptoms and is largely supportive. This care should focus on prevention of infection, protection of the skin against trauma, attention to nutritional deficiencies and dietary complications, minimization of deformities and contractures, and the need for psychological support for the patient and other family members. Detailed information regarding prevention of blisters, care of blisters and infections, and management of nutritional problems can be accessed through the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and article from the eMedicine journal.",GARD,"Epidermolysis bullosa simplex, generalized" +What are the symptoms of Paragangliomas 4 ?,"What are the signs and symptoms of Paragangliomas 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastrointestinal stroma tumor 5% Neuroblastoma 5% Abnormality of urine catecholamine concentration - Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Diaphoresis (with pheochromocytoma) - Extraadrenal pheochromocytoma - Glomus jugular tumor - Headache (with pheochromocytoma) - Hypertension associated with pheochromocytoma - Incomplete penetrance - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Renal cell carcinoma - Tachycardia (with pheochromocytoma) - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paragangliomas 4 +What are the symptoms of Roch-Leri mesosomatous lipomatosis ?,"What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Roch-Leri mesosomatous lipomatosis +What is (are) Ataxia telangiectasia ?,"Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Ataxia telangiectasia +What are the symptoms of Ataxia telangiectasia ?,"What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia telangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome stability 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Elevated hepatic transaminases 90% Gait disturbance 90% Incoordination 90% Lymphopenia 90% Mucosal telangiectasiae 90% Neurological speech impairment 90% Nystagmus 90% Polycystic ovaries 90% Premature graying of hair 90% Recurrent respiratory infections 90% Strabismus 90% Telangiectasia of the skin 90% Tremor 90% Hypertonia 50% Hypopigmentation of hair 50% Neoplasm 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the testis 7.5% Aplasia/Hypoplasia of the skin 7.5% Cafe-au-lait spot 7.5% Cognitive impairment 7.5% Type II diabetes mellitus 7.5% Abnormal spermatogenesis - Abnormality of the hair - Ataxia - Autosomal recessive inheritance - Bronchiectasis - Choreoathetosis - Conjunctival telangiectasia - Decreased number of CD4+ T cells - Defective B cell differentiation - Delayed puberty - Diabetes mellitus - Dysarthria - Dystonia - Elevated alpha-fetoprotein - Female hypogonadism - Glucose intolerance - Hodgkin lymphoma - Hypoplasia of the thymus - IgA deficiency - Immunoglobulin IgG2 deficiency - Leukemia - Myoclonus - Non-Hodgkin lymphoma - Recurrent bronchitis - Sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ataxia telangiectasia +What is (are) Wernicke-Korsakoff syndrome ?,"Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Korsakoff's amnesic syndrome is a memory disorder that is associated with alcoholism and involvement of the heart, vascular, and nervous system. Although these conditions may appear to be two different disorders, they are generally considered to be different stages of Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the ""acute"" phase and Korsakoff's amnesic syndrome represents the ""chronic"" phase.",GARD,Wernicke-Korsakoff syndrome +What are the symptoms of Wernicke-Korsakoff syndrome ?,"What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). The symptoms of Korsakoff's amnesia include loss of memory, inability to form new memories, making of stories (confabulation), seeing or hearing things that are not really there (hallucinations), disorientation, and vision impairment. The main features of Korsakoff's amnesic syndrome are impairments in acquiring new information or establishing new memories, and in retrieving previous memories. The Human Phenotype Ontology provides the following list of signs and symptoms for Wernicke-Korsakoff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Coma - Confusion - Horizontal nystagmus - Memory impairment - Ophthalmoplegia - Polyneuropathy - Psychosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wernicke-Korsakoff syndrome +What are the treatments for Wernicke-Korsakoff syndrome ?,How might Wernicke-Korsakoff syndrome be treated?,GARD,Wernicke-Korsakoff syndrome +What are the symptoms of Craniodiaphyseal dysplasia ?,"What are the signs and symptoms of Craniodiaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniodiaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the mandible 90% Abnormality of the ribs 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Frontal bossing 90% Macrocephaly 90% Short stature 90% Atresia of the external auditory canal 50% Conductive hearing impairment 50% Optic atrophy 7.5% Autosomal recessive inheritance - Diaphyseal dysplasia - Diaphyseal sclerosis - Facial hyperostosis - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Craniodiaphyseal dysplasia +What are the symptoms of Seow Najjar syndrome ?,"What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aqueductal stenosis - Dental crowding - Headache - Hypoplasia of dental enamel - Shovel-shaped maxillary central incisors - Sporadic - Subcapsular cataract - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Seow Najjar syndrome +What is (are) Proteus syndrome ?,"Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.",GARD,Proteus syndrome +What are the symptoms of Proteus syndrome ?,"What are the signs and symptoms of Proteus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proteus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Proteus syndrome +What causes Proteus syndrome ?,"What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.",GARD,Proteus syndrome +What is (are) Charcot-Marie-Tooth disease type 4 ?,"Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication.",GARD,Charcot-Marie-Tooth disease type 4 +What is (are) Early infantile epileptic encephalopathy 4 ?,"Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.",GARD,Early infantile epileptic encephalopathy 4 +What are the symptoms of Early infantile epileptic encephalopathy 4 ?,"What are the signs and symptoms of Early infantile epileptic encephalopathy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent speech - Autosomal dominant inheritance - Cerebral atrophy - Cerebral hypomyelination - Developmental regression - EEG with burst suppression - Epileptic encephalopathy - Epileptic spasms - Generalized myoclonic seizures - Generalized tonic seizures - Generalized tonic-clonic seizures - Hypoplasia of the corpus callosum - Hypsarrhythmia - Impaired horizontal smooth pursuit - Infantile encephalopathy - Intellectual disability, severe - Muscular hypotonia - Neonatal onset - Severe global developmental delay - Spastic paraplegia - Spastic tetraplegia - Status epilepticus - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Early infantile epileptic encephalopathy 4 +What is (are) Chromosome 7p deletion ?,"Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 7p deletion +What are the symptoms of Dykes Markes Harper syndrome ?,"What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 90% Gait disturbance 90% Hepatomegaly 90% Ichthyosis 90% Incoordination 90% Neurological speech impairment 90% Splenomegaly 90% Ataxia - Autosomal recessive inheritance - Dysarthria - Hepatosplenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dykes Markes Harper syndrome +What are the symptoms of Passos-Bueno syndrome ?,"What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Encephalocele 90% Myopia 90% Retinal detachment 90% Skull defect 90% Abnormality of the vitreous humor 50% Hydrocephalus 50% Nystagmus 50% Visual impairment 50% Cataract 7.5% Depressed nasal bridge 7.5% Ectopia lentis 7.5% Epicanthus 7.5% Joint hypermobility 7.5% Lymphangioma 7.5% Malar flattening 7.5% Patent ductus arteriosus 7.5% Pyloric stenosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Vesicoureteral reflux 7.5% Mental deterioration 5% Ataxia - Autosomal recessive inheritance - Band keratopathy - Cerebellar atrophy - Cerebral atrophy - Congenital cataract - Macular hypoplasia - Occipital encephalocele - Phenotypic variability - Phthisis bulbi - Polymicrogyria - Severe Myopia - Ventriculomegaly - Visual loss - Vitreoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Passos-Bueno syndrome +What is (are) Parapsoriasis ?,"Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL). Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.",GARD,Parapsoriasis +What are the symptoms of Hirschsprung disease polydactyly heart disease ?,"What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hirschsprung disease polydactyly heart disease +What is (are) Endometrial stromal sarcoma ?,"Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or bleeding after menopause); abdominal pain and/or distension; and frequent urination. The exact underlying cause of endometrial stromal sarcoma is currently unknown. Most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition but may include surgery, radiation therapy, chemotherapy, and/or hormone therapy.",GARD,Endometrial stromal sarcoma +What is (are) Platelet storage pool deficiency ?,"Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.",GARD,Platelet storage pool deficiency +What are the symptoms of Platelet storage pool deficiency ?,"What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Acute leukemia - Autosomal dominant inheritance - Decreased mean platelet volume - Myelodysplasia - Prolonged bleeding time - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Platelet storage pool deficiency +What causes Platelet storage pool deficiency ?,"What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream. Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Causes of acquired platelet storage pool deficiencies include: Systemic lupus erythematosus Cardiovascular bypass Hairy-cell leukemia",GARD,Platelet storage pool deficiency +Is Platelet storage pool deficiency inherited ?,"Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.",GARD,Platelet storage pool deficiency +How to diagnose Platelet storage pool deficiency ?,How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregation studies Peripheral blood smear Flow cytometry (detects a reduction in certain types of granules in affected platelets),GARD,Platelet storage pool deficiency +What are the treatments for Platelet storage pool deficiency ?,"How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).",GARD,Platelet storage pool deficiency +What are the symptoms of Dermochondrocorneal dystrophy of Franois ?,"What are the signs and symptoms of Dermochondrocorneal dystrophy of Franois? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermochondrocorneal dystrophy of Franois. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hand - Anterior cortical cataract - Autosomal recessive inheritance - Corneal dystrophy - Gingival overgrowth - Irregular tarsal ossification - Skin nodule - Subepithelial corneal opacities - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermochondrocorneal dystrophy of Franois +What are the symptoms of Scholte syndrome ?,"What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scholte syndrome +What are the symptoms of Brachydactyly types B and E combined ?,"What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Brachydactyly types B and E combined +What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ?,"What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Difficulty walking - Ectodermal dysplasia - Episodic fever - Failure to thrive - Gowers sign - Heat intolerance - Immunodeficiency - Muscular hypotonia - Myopathy - Recurrent aphthous stomatitis - Recurrent infections - Respiratory insufficiency due to muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immune dysfunction with T-cell inactivation due to calcium entry defect 1 +What is (are) Neurofibromatosis ?,"Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines.",GARD,Neurofibromatosis +Is Neurofibromatosis inherited ?,"Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with neurofibromatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Neurofibromatosis +"What are the symptoms of Ichthyosiform erythroderma, corneal involvement, deafness ?","What are the signs and symptoms of Ichthyosiform erythroderma, corneal involvement, deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosiform erythroderma, corneal involvement, deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal recessive inheritance - Cirrhosis - Conjunctivitis - Decreased lacrimation - Erythroderma - Failure to thrive - Fragile nails - Ichthyosis - Intellectual disability - Keratoconus - Myopia - Photophobia - Sensorineural hearing impairment - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ichthyosiform erythroderma, corneal involvement, deafness" +What are the symptoms of Rhizomelic syndrome ?,"What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormality of epiphysis morphology 90% Abnormality of the elbow 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the knees 90% Abnormality of the pulmonary artery 90% Abnormality of the tongue 90% Acne 90% Brachydactyly syndrome 90% Cognitive impairment 90% Depressed nasal bridge 90% Limb undergrowth 90% Limitation of joint mobility 90% Microcephaly 90% Preaxial hand polydactyly 90% Short distal phalanx of finger 90% Short neck 90% Short stature 90% Triphalangeal thumb 90% Cleft palate 50% Kyphosis 50% Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Complete duplication of thumb phalanx - Hip dislocation - Pulmonic stenosis - Rhizomelia - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rhizomelic syndrome +What are the symptoms of Ankyloblepharon filiforme imperforate anus ?,"What are the signs and symptoms of Ankyloblepharon filiforme imperforate anus? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankyloblepharon filiforme imperforate anus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palpebral fissures 90% Urogenital fistula 90% Reduced number of teeth 50% Cleft palate 7.5% Non-midline cleft lip 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ankyloblepharon filiforme imperforate anus +What are the symptoms of Osteoarthropathy of fingers familial ?,"What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Brachydactyly syndrome 50% Limitation of joint mobility 50% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Broad phalanx - Short phalanx of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteoarthropathy of fingers familial +What are the symptoms of Leber congenital amaurosis 1 ?,"What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blindness - Cataract - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Growth delay - Hepatomegaly - Hyperthreoninemia - Hyperthreoninuria - Intellectual disability - Keratoconus - Nystagmus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 1 +"What are the symptoms of Angioma serpiginosum, autosomal dominant ?","What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypermelanotic macule 90% Telangiectasia of the skin 90% Abnormality of the retinal vasculature 7.5% Verrucae 7.5% Autosomal dominant inheritance - Hyperkeratosis - Juvenile onset - Slow progression - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Angioma serpiginosum, autosomal dominant" +What is (are) Acute zonal occult outer retinopathy ?,"Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include ""whitening of vision"" or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.",GARD,Acute zonal occult outer retinopathy +What are the symptoms of Desmoid tumor ?,"What are the signs and symptoms of Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdominal wall 90% Sarcoma 90% Abdominal pain 50% Intestinal polyposis 50% Myalgia 50% Epidermoid cyst 33% Abnormality of retinal pigmentation 7.5% Abnormality of the upper urinary tract 7.5% Arthralgia 7.5% Chest pain 7.5% Gastrointestinal hemorrhage 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Sepsis 7.5% Colon cancer 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Desmoid tumor +What is (are) Beta-thalassemia ?,"Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called thalassemia major or Cooleys anemia. Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessive manner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure).",GARD,Beta-thalassemia +What are the symptoms of Beta-thalassemia ?,"What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Beta-thalassemia +Is Beta-thalassemia inherited ?,"How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.' In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.",GARD,Beta-thalassemia +What is (are) Genoa syndrome ?,"Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete). Genoa syndrome also appears to be associated with other skeletal abnormalities, including those of the hands, and distinctive facial features. The underlying genetic cause of the condition is currently unknown. Some reports suggest that Genoa syndrome may be inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Genoa syndrome +What are the symptoms of Genoa syndrome ?,"What are the signs and symptoms of Genoa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genoa syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of retinal pigmentation 90% Abnormality of the hip bone 90% Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniosynostosis 90% Delayed skeletal maturation 90% Epicanthus 90% Facial asymmetry 90% Holoprosencephaly 90% Hypotelorism 90% Microcephaly 90% Muscular hypotonia 90% Plagiocephaly 90% Short distal phalanx of finger 90% Short stature 90% Skeletal muscle atrophy 90% Strabismus 90% Upslanted palpebral fissure 90% Coronal craniosynostosis - Coxa valga - Hypoplastic vertebral bodies - Lambdoidal craniosynostosis - Semilobar holoprosencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Genoa syndrome +What is (are) Fibrolamellar carcinoma ?,"Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection.",GARD,Fibrolamellar carcinoma +What are the symptoms of Fibrolamellar carcinoma ?,"What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain Weight loss Malaise Abdominal mass Hepatomegaly The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrolamellar carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fibrolamellar carcinoma +What causes Fibrolamellar carcinoma ?,"What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. However, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. Recent research suggests that a deletion on chromosome 19 may play a key role in the formation of FLC. This deletion is called a ""somatic mutation"" since it is only present in the cells of the liver. Somatic mutations accumulate during a person's lifetime and are not inherited or passed on to future generations.",GARD,Fibrolamellar carcinoma +How to diagnose Fibrolamellar carcinoma ?,"How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. Medscape Reference's Web site offers more specific information on the diagnosis of FLC. Please click on the link to access this resource.",GARD,Fibrolamellar carcinoma +What are the treatments for Fibrolamellar carcinoma ?,"How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be considered if surgical resection isn't an option. For example, liver transplantation may be considered in patients who are not candidates for partial resection (removing a portion of the liver). Medscape Reference's Web site offers more specific information on the treatment and management of FLC. Please click the link to access this resource.",GARD,Fibrolamellar carcinoma +What are the symptoms of Leber congenital amaurosis 16 ?,"What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Strabismus 5% Autosomal recessive inheritance - Cataract - Nyctalopia - Nystagmus - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leber congenital amaurosis 16 +What is (are) GM1 gangliosidosis type 1 ?,"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.",GARD,GM1 gangliosidosis type 1 +What are the symptoms of GM1 gangliosidosis type 1 ?,"What are the signs and symptoms of GM1 gangliosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cherry red spot of the macula 50% Abnormality of the heart valves - Abnormality of the urinary system - Angiokeratoma corporis diffusum - Autosomal recessive inheritance - Beaking of vertebral bodies - Cerebral degeneration - Coarse facial features - Congestive heart failure - Death in infancy - Decreased beta-galactosidase activity - Depressed nasal ridge - Dilated cardiomyopathy - Frontal bossing - Gingival overgrowth - Hepatomegaly - Hypertelorism - Hypertrichosis - Hypertrophic cardiomyopathy - Hypoplastic vertebral bodies - Inguinal hernia - Intellectual disability - Joint stiffness - Kyphosis - Scoliosis - Severe short stature - Short neck - Splenomegaly - Thickened ribs - Vacuolated lymphocytes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,GM1 gangliosidosis type 1 +What is (are) Sjogren syndrome ?,"Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Treatment is symptomatic and supportive and may include moisture replacement therapies, nonsteroidal anti-inflammatory drugs and, in severe cases, corticosteroids or immunosuppressive drugs.",GARD,Sjogren syndrome +What are the symptoms of Sjogren syndrome ?,"What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Arthritis 90% Autoimmunity 90% Dry skin 90% Increased antibody level in blood 90% Keratoconjunctivitis sicca 90% Xerostomia 90% Abnormality of temperature regulation 50% Abnormality of the gastric mucosa 50% Abnormality of the pharynx 50% Acrocyanosis 50% Carious teeth 50% Corneal erosion 50% Diplopia 50% Feeding difficulties in infancy 50% Furrowed tongue 50% Myalgia 50% Opacification of the corneal stroma 50% Paresthesia 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Recurrent respiratory infections 50% Sinusitis 50% Sleep disturbance 50% Visual impairment 50% Abnormal tendon morphology 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Abnormality of the sense of smell 7.5% Alopecia 7.5% Arrhythmia 7.5% Asthma 7.5% Atelectasis 7.5% Cerebral ischemia 7.5% Chronic obstructive pulmonary disease 7.5% Conductive hearing impairment 7.5% Cryoglobulinemia 7.5% Cutis marmorata 7.5% Diabetes insipidus 7.5% Epistaxis 7.5% Facial palsy 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Hypercalciuria 7.5% Hypokalemia 7.5% Leukopenia 7.5% Lymphoma 7.5% Malabsorption 7.5% Meningitis 7.5% Microcytic anemia 7.5% Myositis 7.5% Nephrolithiasis 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Ophthalmoparesis 7.5% Otitis media 7.5% Pancreatitis 7.5% Photophobia 7.5% Proteinuria 7.5% Ptosis 7.5% Pulmonary hypertension 7.5% Reduced bone mineral density 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Salivary gland neoplasm 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Thyroiditis 7.5% Urticaria 7.5% Vasculitis 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Rheumatoid arthritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sjogren syndrome +What causes Sjogren syndrome ?,"What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. Simply having one of these genes does not cause a person to develop the disease; some sort of trigger is also needed. That trigger may be a viral or bacterial infection. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed. The possibility that the endocrine and nervous systems may play a role in the disease is also under investigation.",GARD,Sjogren syndrome +Is Sjogren syndrome inherited ?,"Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome have relatives with autoimmune diseases. While the relatives of people with Sjogren syndrome are at an increased risk of developing autoimmune diseases in general, they are not necessarily more likely to develop Sjogren syndrome.",GARD,Sjogren syndrome +What is (are) Olmsted syndrome ?,"Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.",GARD,Olmsted syndrome +What are the symptoms of Olmsted syndrome ?,"What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Olmsted syndrome +What are the symptoms of Spermatogenesis arrest ?,"What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spermatogenesis arrest +What are the symptoms of Charcot-Marie-Tooth disease type 2L ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2L? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased amplitude of sensory action potentials - Decreased number of large peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: chronic denervation signs - Hyporeflexia - Peripheral axonal neuropathy - Pes cavus - Scoliosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2L +What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ?,"What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital adrenal hyperplasia - Increased circulating ACTH level - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +What are the symptoms of Atelosteogenesis type 1 ?,"What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Atelosteogenesis type 1 +What are the symptoms of Santos Mateus Leal syndrome ?,"What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Santos Mateus Leal syndrome +What is (are) Gliomatosis cerebri ?,"Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, and seizures. Because this tumor is so diffuse it can be challenging to treat and the prognosis for people with gliomatosis cerebri is generally poor.",GARD,Gliomatosis cerebri +What is (are) Hyperkalemic periodic paralysis ?,"Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion.",GARD,Hyperkalemic periodic paralysis +What are the symptoms of Hyperkalemic periodic paralysis ?,"What are the signs and symptoms of Hyperkalemic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral palsy 90% EMG abnormality 90% Gait disturbance 50% Hyperkalemia 50% Involuntary movements 50% Myalgia 50% Myotonia 50% Arrhythmia 7.5% Bowel incontinence 7.5% Chest pain 7.5% Congestive heart failure 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hypertonia 7.5% Hypokalemia 7.5% Hyponatremia 7.5% Malignant hyperthermia 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Autosomal dominant inheritance - Episodic flaccid weakness - Infantile onset - Periodic hyperkalemic paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperkalemic periodic paralysis +What is (are) Primary hyperoxaluria type 2 ?,"Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.",GARD,Primary hyperoxaluria type 2 +What are the symptoms of Primary hyperoxaluria type 2 ?,"What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Presenting symptoms are typically those associated with the presence of kidney stones, including hematuria, renal colic (a type of abdominal pain caused by kidney stones), or obstruction of the urinary tract. The symptoms of primary hyperoxaluria type 2 are typically less severe than primary hyperoxaluria type 1 and may be limited to kidney stone formation. Symptom onset may occur in childhood or adolescence. End stage renal disease is rarely observed in childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary hyperoxaluria type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal insufficiency 5% Aminoaciduria - Autosomal recessive inheritance - Calcium oxalate nephrolithiasis - Hematuria - Hyperoxaluria - Nephrocalcinosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary hyperoxaluria type 2 +What causes Primary hyperoxaluria type 2 ?,"What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria type 2.",GARD,Primary hyperoxaluria type 2 +Is Primary hyperoxaluria type 2 inherited ?,"How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Primary hyperoxaluria type 2 +What are the treatments for Primary hyperoxaluria type 2 ?,"How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.",GARD,Primary hyperoxaluria type 2 +What is (are) Preauricular sinus ?,"Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus.",GARD,Preauricular sinus +What are the symptoms of Preauricular sinus ?,"What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Preauricular pit - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Preauricular sinus +What are the treatments for Preauricular sinus ?,"How might a preauricular sinus be treated? The majority of preauricular sinuses do not cause symptoms or problems unless they become infected. Common signs of infection include swelling, redness, fluid drainage, and pain. In these cases, treatment typically includes systemic antibiotics. If an abscess is present, it will likely need to be incised and drained. There are differing opinions in the medical literature about the indications for surgical removal of preauricular sinuses. Some believe that even asymptomatic sinuses should be removed. Others believe that surgery is indicated if infection or other complications arise.",GARD,Preauricular sinus +What are the symptoms of Pallister W syndrome ?,"What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acne 90% Broad forehead 90% Cognitive impairment 90% Eczema 90% Hypertonia 90% Macrotia 90% Mandibular prognathia 90% Narrow face 90% Short philtrum 90% Short stature 90% Strabismus 90% Wide nasal bridge 90% Camptodactyly of finger 50% Camptodactyly of toe 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cubitus valgus 50% Elbow dislocation 50% Hearing impairment 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Pes cavus 50% Seizures 50% Displacement of the external urethral meatus 7.5% Agenesis of central incisor - Agenesis of maxillary central incisor - Alternating esotropia - Broad nasal tip - Broad uvula - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Hypoplasia of the ulna - Intellectual disability - Joint contracture of the hand - Pes planus - Radial bowing - Radial deviation of finger - Spasticity - Submucous cleft hard palate - Telecanthus - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pallister W syndrome +What are the symptoms of Familial hyperlipo-proteinemia type 1 ?,"What are the signs and symptoms of Familial hyperlipo-proteinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Episodic abdominal pain - Eruptive xanthomas - Hepatosplenomegaly - Hypercholesterolemia - Hyperchylomicronemia - Hyperlipidemia - Jaundice - Lipemia retinalis - Nausea - Pancreatitis - Splenomegaly - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial hyperlipo-proteinemia type 1 +What is (are) Membranous nephropathy ?,"Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and may include swelling, fatigue, weight gain, and high blood pressure. In many cases, the underlying cause of membranous nephropathy is not known. Some cases are associated with other conditions (lupus), infections (hepatitis B and C), cancer or as a side effect of certain medications. The goal of treatment is to reduce symptoms and slow the progression of the disease.",GARD,Membranous nephropathy +What are the symptoms of Charcot-Marie-Tooth disease type 2K ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2K +What are the symptoms of CLOVES syndrome ?,"What are the signs and symptoms of CLOVES syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CLOVES syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hemihypertrophy 100% Lipoma 75% Lower limb asymmetry 5% Renal hypoplasia/aplasia 5% Scoliosis 5% Spinal dysraphism 5% Tethered cord 5% Abnormality of cardiovascular system morphology - Cranial hyperostosis - Facial asymmetry - Overgrowth - Sandal gap - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,CLOVES syndrome +What is (are) Progressive deafness with stapes fixation ?,"Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including ostosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.",GARD,Progressive deafness with stapes fixation +What are the symptoms of Progressive deafness with stapes fixation ?,"What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive deafness with stapes fixation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bilateral conductive hearing impairment - Stapes ankylosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Progressive deafness with stapes fixation +What causes Progressive deafness with stapes fixation ?,"What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified.",GARD,Progressive deafness with stapes fixation +What are the treatments for Progressive deafness with stapes fixation ?,"How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity. Stapedotomy (a procedure where a laser is used to make a hole in the stapes) or partial stapedectomy (removal of the stapes) with stapes replacement using a prostheses most commonly achieves satisfactory results with minimal complications.",GARD,Progressive deafness with stapes fixation +What is (are) Myelomeningocele ?,"Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and they may have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.",GARD,Myelomeningocele +What are the symptoms of Myelomeningocele ?,"What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensation Partial or complete paralysis of the legs Weakness of the hips, legs, or feet Some individuals may have additional symptoms. Other symptoms include: Abnormal feet or legs, such as clubfoot. Build up of fluid inside the skull (hydrocephalus) Hair at the back part of the pelvis called the sacral area Dimpling of the sacral area Meningitis Chiari II malformation Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structuresuch as overlying membranes and vertebraecausing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.",GARD,Myelomeningocele +What are the treatments for Myelomeningocele ?,"How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help drain the extra fluid.[5182] In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care and are implemented soon after birth in 93-95% of patients.",GARD,Myelomeningocele +What is (are) Autoimmune myocarditis ?,"Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.",GARD,Autoimmune myocarditis +What are the symptoms of Curry Jones syndrome ?,"What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly 90% Hypertelorism 90% Hypopigmented skin patches 90% Abnormality of thumb phalanx 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Cognitive impairment 50% Craniosynostosis 50% Facial asymmetry 50% Foot polydactyly 50% Hypertrichosis 50% Preaxial hand polydactyly 50% Toe syndactyly 50% Ventriculomegaly 50% Chorioretinal coloboma 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic nerve coloboma 7.5% Abnormality of the skin - Agenesis of corpus callosum - Anal stenosis - Blepharophimosis - Coloboma - Microphthalmia - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Curry Jones syndrome +What are the symptoms of Spinal intradural arachnoid cysts ?,"What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vertebral column - Arachnoid cyst - Autosomal dominant inheritance - Paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinal intradural arachnoid cysts +What is (are) Lattice corneal dystrophy type 1 ?,"Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.",GARD,Lattice corneal dystrophy type 1 +What are the symptoms of Lattice corneal dystrophy type 1 ?,"What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lattice corneal dystrophy type 1 +What is (are) Complex regional pain syndrome ?,"Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time and often spreads throughout the entire affected area. Other symptoms may include color and temperature changes of the skin over the affected area; skin sensitivity; sweating; and swelling. The underlying cause of CRPS is often not known. Two classifications of CRPS have been recognized based on causalgia. Type I (also known as reflex sympathetic dystrophy), in which there is no evidence of peripheral nerve injury and Type II, in which peripheral nerve injury is present. Treatment aims to relieve pain and often includes different interventions such as topical or oral medications; physical therapy; and/or a sympathetic nerve block.",GARD,Complex regional pain syndrome +What are the symptoms of Complex regional pain syndrome ?,"What are the signs and symptoms of complex regional pain syndrome? Complex regional pain syndrome (CRPS) usually develops after an injury, surgery, stroke or heart attack. The key symptom of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time. CRPS most often affects one of the arms, legs, hands, or feet, and the pain often spreads throughout the entire affected arm or leg. Other signs and symptoms may include: sensitivity to touch or cold swelling of the painful area changes in skin temperature, color, and/or texture joint stiffness and swelling muscle weakness and/or muscle spasms Symptoms may change over time and vary from person to person. In some people, signs and symptoms of go away on their own. In others, symptoms can persist for months to years.",GARD,Complex regional pain syndrome +What causes Complex regional pain syndrome ?,"What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). The exact trigger of CRPS after an injury is not known, but it may be due to abnormal interactions between the central and peripheral nervous systems, and/or inappropriate inflammatory responses.",GARD,Complex regional pain syndrome +What are the treatments for Complex regional pain syndrome ?,"How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement or remission may be possible. A combination of therapies is usually necessary including medications, physical and occupational therapy, interventional procedures, and psychosocial/behavioral management. Medications used to treat CRPS may include:oral and topical pain relievers; antidepressants or anticonvulsants (which are sometimes used to treat pain); corticosteroids; bone-loss medications; sympathetic nerve-blocking medications; intravenous anesthetics (Ketamine), and/or intravenous immunoglobulin (IVIG). Other therapies used may include applying heat or cold; electrical nerve stimulation; and biofeedback. Interventional procedures may include: trigger/tender point injections; regional sympathetic nerve block; spinal cord stimulation; epiduralclonidine; and chemical or mechanical sympathectomy. Unfortunately, published research studies validating the efficacy of these treatment options are limited and no single drug or therapy (or combination) has shown consistent, long-lasting improvement among affected people. For more information on treatment options for CRPS, click on the following link from the Reflex Sympathetic Dystrophy Association of America (RSDSA) http://rsds.org/treatment or the following link on chronic pain through the National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/chronic_pain/detail_chronic_pain.htm",GARD,Complex regional pain syndrome +What is (are) Primary hyperparathyroidism ?,"Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.",GARD,Primary hyperparathyroidism +What is (are) Wildervanck syndrome ?,"Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss. The cause of Wildervanck syndrome is unknown. In most cases, affected individuals have no family history of the condition.",GARD,Wildervanck syndrome +What are the symptoms of Wildervanck syndrome ?,"What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Short neck 90% Vertebral segmentation defect 90% Ectopia lentis 7.5% Facial asymmetry 7.5% Facial palsy 7.5% Low posterior hairline 7.5% Meningocele 7.5% Optic atrophy 7.5% Webbed neck 7.5% Abnormality of the outer ear - Fused cervical vertebrae - Hearing impairment - Preauricular skin tag - Pseudopapilledema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wildervanck syndrome +What causes Wildervanck syndrome ?,"What causes Wildervanck syndrome? The exact cause of Wildervanck syndrome is not known. It is suspected to be a polygenic condition, meaning that many genetic factors may be involved.",GARD,Wildervanck syndrome +Is Wildervanck syndrome inherited ?,"How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, it is possible that this condition has X-linked dominant inheritance. The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.",GARD,Wildervanck syndrome +What is (are) Michels syndrome ?,"Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait. Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).",GARD,Michels syndrome +What are the symptoms of Michels syndrome ?,"What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of eye movement - Abnormality of the anterior chamber - Autosomal recessive inheritance - Blepharophimosis - Broad foot - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Conductive hearing impairment - Conjunctival telangiectasia - Coronal craniosynostosis - Dental crowding - Epicanthus inversus - Glaucoma - Growth delay - Highly arched eyebrow - Hydronephrosis - Hypertelorism - Intellectual disability, mild - Lambdoidal craniosynostosis - Microcephaly - Omphalocele - Postnatal growth retardation - Ptosis - Radioulnar synostosis - Sacral dimple - Short 5th finger - Short foot - Single interphalangeal crease of fifth finger - Skull asymmetry - Spina bifida occulta - Supernumerary nipple - Underdeveloped supraorbital ridges - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Michels syndrome +What are the symptoms of Hyperthermia induced defects ?,"What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of prenatal development or birth 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Malar flattening 50% Microcephaly 50% Single transverse palmar crease 50% Hypertonia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperthermia induced defects +What is (are) Polycythemia vera ?,"Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. People with PV have an increased risk of deep vein thrombosis which can cause a pulmonary embolism, heart attack, and stroke. Most cases of PV are not inherited and are acquired during a person's lifetime. In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner. The condition has been associated with mutations in the JAK2 and TET2 genes.",GARD,Polycythemia vera +What are the symptoms of Polycythemia vera ?,"What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Acute leukemia 90% Bruising susceptibility 90% Coronary artery disease 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Hepatomegaly 90% Migraine 90% Myelodysplasia 90% Splenomegaly 90% Tinnitus 90% Vertigo 90% Weight loss 90% Arthralgia 50% Respiratory insufficiency 50% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Portal hypertension 7.5% Pruritus 7.5% Thrombophlebitis 7.5% Autosomal dominant inheritance - Budd-Chiari syndrome - Cerebral hemorrhage - Increased hematocrit - Increased hemoglobin - Increased megakaryocyte count - Increased red blood cell mass - Leukocytosis - Somatic mutation - Sporadic - Thrombocytopenia - Thrombocytosis - Thromboembolism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Polycythemia vera +Is Polycythemia vera inherited ?,"Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited.",GARD,Polycythemia vera +What are the treatments for Polycythemia vera ?,"What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water. Several other treatments are available for more severe itching or for itching the does not respond to initial treatments. Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects. Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV.. Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results. Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching.",GARD,Polycythemia vera +What are the symptoms of Spastic paraplegia 6 ?,"What are the signs and symptoms of Spastic paraplegia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Tremor 5% Autosomal dominant inheritance - Babinski sign - Clonus - Degeneration of the lateral corticospinal tracts - Impaired vibration sensation in the lower limbs - Insidious onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Progressive - Seizures - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spastic paraplegia 6 +"What are the symptoms of Whistling face syndrome, recessive form ?","What are the signs and symptoms of Whistling face syndrome, recessive form? The Human Phenotype Ontology provides the following list of signs and symptoms for Whistling face syndrome, recessive form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blepharophimosis - Camptodactyly - Chin dimple - Elbow flexion contracture - Epicanthus - Flat midface - High palate - Hypertelorism - Inguinal hernia - Knee flexion contracture - Kyphoscoliosis - Long philtrum - Malar flattening - Microglossia - Narrow mouth - Prominent nasal bridge - Ptosis - Short neck - Short palpebral fissure - Shoulder flexion contracture - Talipes equinovarus - Telecanthus - Ulnar deviation of finger - Underdeveloped nasal alae - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Whistling face syndrome, recessive form" +What is (are) X-linked agammaglobulinemia ?,"X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.",GARD,X-linked agammaglobulinemia +What are the symptoms of X-linked agammaglobulinemia ?,"What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the tonsils 90% Decreased antibody level in blood 90% Diarrhea 90% Inflammatory abnormality of the eye 90% Otitis media 90% Recurrent cutaneous abscess formation 90% Recurrent respiratory infections 90% Short stature 90% Sinusitis 90% Skin rash 90% Skin ulcer 90% Abnormality of neutrophils 50% Arthritis 50% Cellulitis 50% Meningitis 50% Sepsis 50% Abnormality of the liver 7.5% Alopecia 7.5% Anemia 7.5% Autoimmunity 7.5% Hypopigmented skin patches 7.5% Malabsorption 7.5% Osteomyelitis 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Agammaglobulinemia - Conjunctivitis - Cor pulmonale - Delayed speech and language development - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked agammaglobulinemia +What are the treatments for X-linked agammaglobulinemia ?,"How might X-linked agammaglobulinemia be treated? Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks. However, in the last few years, an increasing number of people have been receiving it by weekly subcutaneous injections. The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections. Aggressive use of antibiotics lower the chance of chronic sinusitis and lung disease, which are common complications in individuals with XLA. Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease (IBD). Furthermore, children with XLA should not be given live viral vaccines. For example, they should be given inactivated polio vaccine (IPV) rather than the oral polio vaccine. The siblings of children with XLA should also be given inactivated polio vaccine (IPV) rather than oral polio vaccine in order to avoid infecting their affected sibling with live virus.",GARD,X-linked agammaglobulinemia +What are the symptoms of Radius absent anogenital anomalies ?,"What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Hydrocephalus 90% Oligohydramnios 90% Split hand 90% Displacement of the external urethral meatus 50% Urogenital fistula 50% Absent radius - Anal atresia - Penile hypospadias - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Radius absent anogenital anomalies +What are the symptoms of Hall Riggs mental retardation syndrome ?,"What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Cognitive impairment 90% Epicanthus 90% Microcephaly 90% Neurological speech impairment 90% Short stature 90% Thick lower lip vermilion 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Coarse hair 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Hypertelorism 50% Limb undergrowth 50% Nausea and vomiting 50% Platyspondyly 50% Scoliosis 50% Seizures 50% Slow-growing hair 50% Wide mouth 50% Abnormality of dental enamel 7.5% Delayed eruption of teeth 7.5% Limitation of joint mobility 7.5% Absent speech - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive - Feeding difficulties in infancy - Hypoplasia of dental enamel - Hypoplasia of the primary teeth - Intellectual disability - Intrauterine growth retardation - Irregular vertebral endplates - Kyphosis - Metaphyseal dysplasia - Microdontia of primary teeth - Osteoporosis - Prominent nose - U-Shaped upper lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hall Riggs mental retardation syndrome +What is (are) Osteopetrosis autosomal recessive 2 ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.",GARD,Osteopetrosis autosomal recessive 2 +What are the symptoms of Osteopetrosis autosomal recessive 2 ?,"What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Blindness - Carious teeth - Chronic rhinitis due to narrow nasal airway - Cranial hyperostosis - Diaphyseal sclerosis - Extramedullary hematopoiesis - Facial paralysis - Genu valgum - Hepatosplenomegaly - Mandibular osteomyelitis - Mandibular prognathia - Optic atrophy - Osteopetrosis - Pancytopenia - Persistence of primary teeth - Recurrent fractures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteopetrosis autosomal recessive 2 +What is (are) Oculopharyngeal muscular dystrophy ?,"Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.",GARD,Oculopharyngeal muscular dystrophy +What are the symptoms of Oculopharyngeal muscular dystrophy ?,"What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of OPMD include: Muscle weakness (also known as myopathy) Droopy eyelids (also known as ptosis) Difficulty swallowing (also known as dysphagia) Double vision Tongue weakness Upper and/or lower body weakness Weakness of the muscles in the face Voice disorders (in about half of people with this condition) The Human Phenotype Ontology provides the following list of signs and symptoms for Oculopharyngeal muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Myopathy 90% Ophthalmoparesis 90% Ptosis 90% Skeletal muscle atrophy 90% Mask-like facies 7.5% Adult onset - Autosomal dominant inheritance - Distal muscle weakness - Dysarthria - Dysphagia - Facial palsy - Gait disturbance - Limb muscle weakness - Neck muscle weakness - Progressive - Progressive ptosis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculopharyngeal muscular dystrophy +What causes Oculopharyngeal muscular dystrophy ?,"What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell. Mutations in the PABPN1 gene that cause OPMD result in a PABPN1 protein that forms clumps within muscle cells, and hence they cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.",GARD,Oculopharyngeal muscular dystrophy +Is Oculopharyngeal muscular dystrophy inherited ?,How is oculopharyngeal muscular dystrophy inherited?,GARD,Oculopharyngeal muscular dystrophy +How to diagnose Oculopharyngeal muscular dystrophy ?,"Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals that are interested in learning more will need to work with a health care provider or a genetics professional.",GARD,Oculopharyngeal muscular dystrophy +What are the treatments for Oculopharyngeal muscular dystrophy ?,"How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.",GARD,Oculopharyngeal muscular dystrophy +What is (are) Alpha-thalassemia ?,"Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.",GARD,Alpha-thalassemia +What are the symptoms of Alpha-thalassemia ?,"What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alpha-thalassemia +Is Alpha-thalassemia inherited ?,"How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.",GARD,Alpha-thalassemia +What are the treatments for Alpha-thalassemia ?,How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin. Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia.,GARD,Alpha-thalassemia +What is (are) Pediatric Crohn's disease ?,"Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery.",GARD,Pediatric Crohn's disease +What are the symptoms of Meleda disease ?,"What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Lichenification 90% Palmoplantar keratoderma 90% Abnormality of the palate 50% Finger syndactyly 50% Hyperhidrosis 50% Hypertrichosis 50% Ichthyosis 50% Skin ulcer 50% Osteolysis 7.5% Abnormality of the mouth - Autosomal recessive inheritance - Brachydactyly syndrome - Congenital symmetrical palmoplantar keratosis - Erythema - Fragile nails - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Meleda disease +What are the symptoms of Juvenile idiopathic arthritis ?,"What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Joint swelling 90% Skin rash 90% Mediastinal lymphadenopathy 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Hepatomegaly 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile idiopathic arthritis +What are the symptoms of Amish infantile epilepsy syndrome ?,"What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Amish infantile epilepsy syndrome +What is (are) Anaplastic astrocytoma ?,"Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of the tumor and may include headaches, drowsiness, vomiting, and changes in personality or mental status. Some affected people have seizures, vision problems, weakness of the limbs, and/or coordination problems. Anaplastic astroctyomas usually occur sporadically but can be associated with a few rare, genetic disorders. Treatment may include surgery, radiation, and/or chemotherapy.",GARD,Anaplastic astrocytoma +Is Anaplastic astrocytoma inherited ?,"Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders. Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is ""triggered"" by an environmental factor.",GARD,Anaplastic astrocytoma +How to diagnose Anaplastic astrocytoma ?,"Is genetic testing available for anaplastic astrocytomas? When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an increased risk for developing an astrocytoma. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for these conditions. On the GTR Web site, search for a disorder to find out about the genetic tests that are available. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Anaplastic astrocytoma +"What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ?","What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Atypical scarring of skin 90% Gingival overgrowth 90% Short stature 90% Hyperextensible skin 50% Hyperkeratosis 50% Joint hypermobility 50% Periodontitis 50% Premature loss of primary teeth 7.5% Autosomal dominant inheritance - Blue sclerae - Bruising susceptibility - Joint laxity - Palmoplantar cutis laxa - Poor wound healing - Premature loss of teeth - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ehlers-Danlos syndrome, periodontitis type" +What are the symptoms of Popliteal pterygium syndrome lethal type ?,"What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Abnormality of the palpebral fissures 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the eyebrow 90% Finger syndactyly 90% Hypoplastic toenails 90% Median cleft lip 90% Microcephaly 90% Popliteal pterygium 90% Synostosis of joints 90% Talipes 90% Toe syndactyly 90% Trismus 90% Aplasia/Hypoplasia of the thumb 50% Cleft eyelid 50% Cognitive impairment 50% Narrow mouth 50% Opacification of the corneal stroma 50% Short nose 50% Underdeveloped nasal alae 50% Renal hypoplasia/aplasia 7.5% Alopecia totalis 5% Bilateral cryptorchidism 5% Cupped ear 5% Hypertelorism 5% Hypoplasia of the maxilla 5% Hypoplastic male external genitalia 5% Hypoplastic scapulae 5% Microphthalmia 5% Wide intermamillary distance 5% Absent eyebrow - Absent eyelashes - Absent thumb - Anal stenosis - Ankyloblepharon - Anonychia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Facial cleft - Hypoplastic labia majora - Intrauterine growth retardation - Low-set ears - Short phalanx of finger - Small nail - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Popliteal pterygium syndrome lethal type +What is (are) Diabetic mastopathy ?,"Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).",GARD,Diabetic mastopathy +What are the symptoms of Diabetic mastopathy ?,"What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabetic mastopathy who have had insulin-requiring diabetes for a long time (>15 years) commonly have other diabetes complications as well (e.g., thyroid, eye, and joint involvement).",GARD,Diabetic mastopathy +What causes Diabetic mastopathy ?,"What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia.",GARD,Diabetic mastopathy +How to diagnose Diabetic mastopathy ?,"How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis. Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts.",GARD,Diabetic mastopathy +What are the treatments for Diabetic mastopathy ?,How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast team or general practitioner. Patients should be routinely followed up with MRI or ultrasound and core biopsy if the lesions become clinically or radiologically suspicious. Lesions can be excised for cosmetic reasons or if malignancy cannot be excluded. No followup is recommended when malignancy has been ruled out.,GARD,Diabetic mastopathy +What is (are) Stiff person syndrome ?,"Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).",GARD,Stiff person syndrome +What are the symptoms of Stiff person syndrome ?,"What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stiff person syndrome +What causes Stiff person syndrome ?,"What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood.",GARD,Stiff person syndrome +Is Stiff person syndrome inherited ?,"Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role.",GARD,Stiff person syndrome +How to diagnose Stiff person syndrome ?,"Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive.",GARD,Stiff person syndrome +What are the treatments for Stiff person syndrome ?,"How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS. Research involving additional treatment options for SPS is ongoing. Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site.",GARD,Stiff person syndrome +What is (are) Prothrombin thrombophilia ?,"Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism. However, most people with prothrombin thrombophilia never develop abnormal blood clots. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. It is more common in Caucasian populations. This condition is caused by a particular mutation (written G20210A or 20210G>A) in the F2 gene. People can inherit one or two copies of the gene mutation from their parents.",GARD,Prothrombin thrombophilia +What are the symptoms of Prothrombin thrombophilia ?,"What are the signs and symptoms of Prothrombin thrombophilia? The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. Whereas a person that inherits two gene mutations (one from each parent) is considered a homozygote for this condition; although it is very rare to find individuals who are homozygous. An affected heterozygous person usually experiences mild to moderate increase in their thrombin production, which is associated with 2.5 to 3 fold greater risk of developing a venous thromboembolism. There is not enough information about risk in those who are homozygous. Some research suggests that in women, prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies. The Human Phenotype Ontology provides the following list of signs and symptoms for Prothrombin thrombophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebral venous thrombosis - Childhood onset - Deep venous thrombosis - Pulmonary embolism - Recurrent thrombophlebitis - Thromboembolism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Prothrombin thrombophilia +Is Prothrombin thrombophilia inherited ?,"How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele). An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis. All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele. When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.",GARD,Prothrombin thrombophilia +How to diagnose Prothrombin thrombophilia ?,"What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A. An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies). Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition. Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.",GARD,Prothrombin thrombophilia +What is (are) Acrodermatitis enteropathica ?,Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.,GARD,Acrodermatitis enteropathica +What are the symptoms of Acrodermatitis enteropathica ?,"What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Alopecia 90% Cerebral cortical atrophy 90% Diarrhea 90% Dry skin 90% Malabsorption 90% Pustule 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the toenails 50% Cheilitis 50% Furrowed tongue 50% Glossitis 50% Inflammatory abnormality of the eye 50% Photophobia 50% Skin ulcer 50% Anorexia 7.5% Corneal erosion 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia of scalp - Ataxia - Autosomal recessive inheritance - Decreased taste sensation - Decreased testicular size - Decreased testosterone in males - Emotional lability - Failure to thrive - Hepatomegaly - Hypogonadism - Impaired T cell function - Infantile onset - Irritability - Lethargy - Low alkaline phosphatase - Paronychia - Poor appetite - Recurrent candida infections - Splenomegaly - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acrodermatitis enteropathica +What are the symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type ?,"What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypoplasia of the radius - Mesomelic short stature - Neonatal short-limb short stature - Pseudoarthrosis - Short tibia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mesomelic dwarfism of hypoplastic tibia and radius type +What is (are) Thalassemia ?,"Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.",GARD,Thalassemia +What are the symptoms of Thalassemia ?,"What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed growth, delayed puberty, bone problems and/or an enlarged spleen. In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin (jaundice), and enlarged liver or heart. For more information on the signs and symptoms by type of thalassemia, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Thalassemia +What causes Thalassemia ?,"What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provides instructions for making beta globin, while the HBA1 and HBA2 genes provide instructions for making alpha globin. Each person has two copies of each of these genes, one inherited from the mother and one from the father. Changes (mutations) in the HBB gene lead to reduced levels of beta globin and cause beta thalassemia. Loss (deletion) of some or all of the HBA1 and/or HBA2 genes results in a shortage of alpha globin, leading to alpha thalassemia.",GARD,Thalassemia +Is Thalassemia inherited ?,"How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition; although some carriers of beta thalassemia develop mild anemia. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. The inheritance of alpha thalassemia is complicated by the fact that mutations in two different genes (HBA1 and HBA2) are associated with the condition. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. For each gene, one copy is inherited from the mother and one is inherited from the father. If each parent is missing at least one gene copy, their children are at risk for having alpha thalassemia. However, the exact risk and the severity of each child's condition depends on how many gene copies are lost (deleted) and which combination of the HBA1 and HBA2 genes are affected.",GARD,Thalassemia +How to diagnose Thalassemia ?,"Is genetic testing available for thalassemia? Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It has additional information on genetic testing for alpha thalassemia and beta thalassemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Thalassemia +What are the treatments for Thalassemia ?,"How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. For more information on the treatment of thalassemia, please click here.",GARD,Thalassemia +What are the symptoms of Osteogenesis imperfecta type II ?,"What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology - Absent ossification of calvaria - Autosomal dominant inheritance - Beaded ribs - Blue sclerae - Broad long bones - Congestive heart failure - Convex nasal ridge - Crumpled long bones - Disproportionate short-limb short stature - Large fontanelles - Multiple prenatal fractures - Nonimmune hydrops fetalis - Platyspondyly - Premature birth - Pulmonary insufficiency - Recurrent fractures - Respiratory insufficiency - Small for gestational age - Thin skin - Tibial bowing - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteogenesis imperfecta type II +What is (are) McCune Albright syndrome ?,"McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.",GARD,McCune Albright syndrome +What are the symptoms of McCune Albright syndrome ?,"What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS. Endocrine symptoms may include: Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries. Less commonly, boys with MAS may also experience early puberty. Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as ""coarse."" Cushings syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. Skin symptoms may include: Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots. Like the bone lesions, these spots often appear on only one side of the body. Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes. The Human Phenotype Ontology provides the following list of signs and symptoms for McCune Albright syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Cafe-au-lait spot 90% Generalized hyperpigmentation 90% Hypophosphatemia 90% Precocious puberty 90% Recurrent fractures 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Abnormality of coagulation 7.5% Abnormality of dental enamel 7.5% Abnormality of the palate 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Elevated hepatic transaminases 7.5% Goiter 7.5% Hearing abnormality 7.5% Hypercortisolism 7.5% Hyperparathyroidism 7.5% Hyperthyroidism 7.5% Kyphosis 7.5% Long penis 7.5% Macrocephaly 7.5% Macroorchidism 7.5% Mandibular prognathia 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Optic atrophy 7.5% Polycystic ovaries 7.5% Sarcoma 7.5% Tall stature 7.5% Testicular neoplasm 7.5% Blindness - Craniofacial hyperostosis - Facial asymmetry - Growth hormone excess - Hearing impairment - Intestinal polyposis - Large cafe-au-lait macules with irregular margins - Pathologic fracture - Phenotypic variability - Pituitary adenoma - Polyostotic fibrous dysplasia - Prolactin excess - Somatic mosaicism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,McCune Albright syndrome +What causes McCune Albright syndrome ?,"What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS.",GARD,McCune Albright syndrome +Is McCune Albright syndrome inherited ?,"Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children.",GARD,McCune Albright syndrome +What are the treatments for McCune Albright syndrome ?,"How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be needed to manage complications associated with fibrous dysplasia, such as progressive visual disturbance, severe pain, and severe disfigurement. Surgery may also be needed to manage associated endocrine abnormalities and/or cancers. Bisphosphonates are frequently used to treat fibrous dysplasia. Strengthening exercises are recommended to help maintain musculature around the bones and minimize the risk of fracture. Treatment of all endocrine symptoms, whether by hormone inhibitors or surgery, is commonly required. More detailed information about the management of MAS syndrome is available on Medscape Reference's Web site.",GARD,McCune Albright syndrome +What is (are) Glycogen storage disease type 6 ?,"Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time. Symptoms improve significantly as individuals with this condition get older. Glycogen storage disease type 6 is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner.",GARD,Glycogen storage disease type 6 +What are the symptoms of Glycogen storage disease type 6 ?,"What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoglycemia 90% Short stature 90% Autosomal recessive inheritance - Hepatomegaly - Increased hepatic glycogen content - Postnatal growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 6 +"What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ?","What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Seizures 5% Anemia 7/7 Hepatomegaly 7/7 Hypertriglyceridemia 5/5 Splenomegaly 7/7 Hemophagocytosis 6/7 Thrombocytopenia 6/7 Increased serum ferritin 3/4 Neutropenia 5/7 Hypofibrinogenemia 3/5 Autosomal recessive inheritance - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hemophagocytic lymphohistiocytosis, familial, 4" +What is (are) Chiari malformation type 2 ?,"Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.",GARD,Chiari malformation type 2 +What are the symptoms of Chiari malformation type 2 ?,"What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chiari malformation type 2 +Is Chiari malformation type 2 inherited ?,"Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele.",GARD,Chiari malformation type 2 +What are the symptoms of Nasodigitoacoustic syndrome ?,"What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of thumb phalanx 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Broad forehead 90% Hypertelorism 90% Preaxial foot polydactyly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short distal phalanx of finger 90% Short hallux 90% Abnormality of the voice 50% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Exaggerated cupid's bow 50% Macrocephaly 50% Ptosis 50% Tented upper lip vermilion 50% Behavioral abnormality 7.5% Cognitive impairment 7.5% Short stature 7.5% Abnormality of the nail - Autosomal dominant inheritance - Broad distal phalanx of finger - Broad hallux - Broad thumb - Depressed nasal bridge - Enlarged epiphyses - Frontal bossing - High palate - Hoarse voice - Narrow palate - Prominent forehead - Pulmonic stenosis - Rounded epiphyses - Short 3rd metacarpal - Short phalanx of finger - Short toe - Thick upper lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nasodigitoacoustic syndrome +What are the symptoms of Hair defect with photosensitivity and mental retardation ?,"What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Coarse hair 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Fine hair 90% Pili torti 90% Abnormality of immune system physiology 50% Autosomal recessive inheritance - Brittle hair - Intellectual disability - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hair defect with photosensitivity and mental retardation +What is (are) Adenoid cystic carcinoma ?,"Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy.",GARD,Adenoid cystic carcinoma +What causes Adenoid cystic carcinoma ?,"What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. There is ongoing research to learn more about the many factors that contribute to the development of cancer. Cancer is at least partly due to acquired (not inherited) damage or changes to the DNA in certain cells. For example, various studies have shown that chromosomal abnormalities and genetic deletions are present in samples of ACC. However, these genetic abnormalities are present only in the cancer cells, not in the cells with the genetic material that is passed on to offspring (the egg and sperm cells).",GARD,Adenoid cystic carcinoma +Is Adenoid cystic carcinoma inherited ?,"Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors.",GARD,Adenoid cystic carcinoma +What are the symptoms of Hyperglycerolemia ?,"What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperglycerolemia +What are the symptoms of Leiomyoma of vulva and esophagus ?,"What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clitoromegaly - Esophageal obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Leiomyoma of vulva and esophagus +What is (are) Paroxysmal extreme pain disorder ?,"Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine.",GARD,Paroxysmal extreme pain disorder +What are the symptoms of Paroxysmal extreme pain disorder ?,"What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation 50% Autosomal dominant inheritance - Bradycardia - Impaired pain sensation - Lacrimation abnormality - Mandibular pain - Neonatal onset - Ocular pain - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Paroxysmal extreme pain disorder +What is (are) Cushing's syndrome ?,"Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.",GARD,Cushing's syndrome +What are the symptoms of Cushing's syndrome ?,"What are the signs and symptoms of Cushing's syndrome? The signs and symptoms of Cushing's syndrome may include: Upper body obesity Severe fatigue Muscle weakness High blood pressure Backache Elevated blood sugar Easy bruising Bluish-red stretch marks on the skin Neurological issues Women with Cushing's syndrome may also experience increased growth of facial and body hair, and menstrual periods may become irregular or cease. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction. The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Erectile abnormalities 90% Hypercortisolism 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Muscle weakness 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Striae distensae 50% Abdominal pain 7.5% Abnormal renal physiology 7.5% Abnormality of lipid metabolism 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Hypercalcemia 7.5% Hypernatremia 7.5% Hypertrophic cardiomyopathy 7.5% Myopathy 7.5% Neoplasm of the adrenal gland 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Adult onset - Agitation - Anxiety - Autosomal dominant inheritance - Decreased circulating ACTH level - Depression - Increased circulating cortisol level - Kyphosis - Macronodular adrenal hyperplasia - Mental deterioration - Mood changes - Neoplasm - Osteopenia - Osteoporosis - Primary hypercorticolism - Psychosis - Skeletal muscle atrophy - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cushing's syndrome +What causes Cushing's syndrome ?,"What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.",GARD,Cushing's syndrome +Is Cushing's syndrome inherited ?,"Is Cushing's syndrome inherited? Most cases of Cushing's syndrome are not inherited. However, Cushing's syndrome rarely occurs in inherited conditions characterized by the development of tumors of one or more endocrine gland. These conditions may include: Primary pigmented micronodular adrenal disease, in which children or young adults develop small cortisol-producing tumors of the adrenal glands, Multiple endocrine neoplasia type 1 (MEN1), in which hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop. Cushing's syndrome in MEN1 may be due to pituitary or adrenal tumors.",GARD,Cushing's syndrome +What is (are) Dowling-Degos disease ?,"Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene. This condition is inherited in an autosomal dominant pattern.",GARD,Dowling-Degos disease +What are the symptoms of Dowling-Degos disease ?,"What are the signs and symptoms of Dowling-Degos disease? Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation are not affected by exposure to sunlight. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Dowling-Degos disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Progressive reticulate hyperpigmentation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dowling-Degos disease +What are the treatments for Dowling-Degos disease ?,"Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise. Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.",GARD,Dowling-Degos disease +What is (are) Noonan syndrome 2 ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome 2 +What are the treatments for Noonan syndrome 2 ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome 2 +What is (are) Progressive myoclonic epilepsy ?,"Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.",GARD,Progressive myoclonic epilepsy +What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ?,"What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the philtrum 90% Cognitive impairment 90% Deeply set eye 90% Hepatomegaly 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Open mouth 90% Round face 90% Short nose 90% Tall stature 90% Wide nasal bridge 90% Abnormality of the palate 50% Abnormality of the pancreas 50% Anteverted nares 50% Broad alveolar ridges 50% Cryptorchidism 50% Epicanthus 50% Hyperinsulinemia 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Nephroblastoma (Wilms tumor) 50% Polyhydramnios 50% Thickened helices 50% Dolichocephaly 7.5% Hernia of the abdominal wall 7.5% Ptosis 7.5% Seizures 7.5% Single transverse palmar crease 7.5% Abnormal facial shape - Agenesis of corpus callosum - Ascites - Autosomal recessive inheritance - Congenital diaphragmatic hernia - Depressed nasal bridge - Distal ileal atresia - Edema - Hypoplasia of the abdominal wall musculature - Interrupted aortic arch - Large for gestational age - Long upper lip - Low-set ears - Nephroblastomatosis - Nephrogenic rest - Pancreatic islet-cell hyperplasia - Renal hamartoma - Tented upper lip vermilion - Visceromegaly - Volvulus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal hamartomas nephroblastomatosis and fetal gigantism +What are the symptoms of Alopecia intellectual disability syndrome 2 ?,"What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alopecia intellectual disability syndrome 2 +What are the symptoms of Aromatase excess syndrome ?,"What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aromatase excess syndrome +What are the symptoms of Ring chromosome 10 ?,"What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ring chromosome 10 +What is (are) Dentinogenesis imperfecta ?,"Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.",GARD,Dentinogenesis imperfecta +What causes Dentinogenesis imperfecta ?,"What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.",GARD,Dentinogenesis imperfecta +Is Dentinogenesis imperfecta inherited ?,"How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GARD,Dentinogenesis imperfecta +What are the treatments for Dentinogenesis imperfecta ?,"How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost. More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links: https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/ http://www.ojrd.com/content/3/1/31",GARD,Dentinogenesis imperfecta +What is (are) Crusted scabies ?,"Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mites and eggs. The usual features of scabies (itching and a rash) are often absent. Crusted scabies is very contagious and can spread easily both by direct skin-to-skin contacts and through contaminated items such as clothing, bedding, and furniture. People with crusted scabies should receive quick and agressive medical treatment for their infestation to prevent outbreaks of scabies. Ivermectin is commonly used to treat this form of scabies.",GARD,Crusted scabies +What is (are) Budd-Chiari syndrome ?,"Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. This narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. Other associated findings include an accumulation of fluid in the abdomen (ascites), an enlarged spleen and/or liver, and severe bleeding in the esophagus. The severity of the disorder varies from case to case, depending on the site and number of affected veins. Drugs may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases surgery is performed. In most cases, the cause of Budd-Chiari syndrome is unknown.",GARD,Budd-Chiari syndrome +What are the symptoms of Budd-Chiari syndrome ?,"What are the signs and symptoms of Budd-Chiari syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Budd-Chiari syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ascites 90% Portal hypertension 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Cirrhosis 50% Elevated hepatic transaminases 50% Esophageal varix 50% Hepatomegaly 50% Acute hepatic failure 7.5% Biliary tract abnormality 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Peritonitis 7.5% Weight loss 7.5% Budd-Chiari syndrome - Hepatocellular carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Budd-Chiari syndrome +What are the treatments for Budd-Chiari syndrome ?,"How might Budd-Chiari syndrome be treated? The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include: Blood-thinning (anticoagulation) medications Clot-busting drugs (thrombolytic treatment) Treatment for the liver disease, including ascites Surgical treatments may also be considered and include: Angioplasty and stent placement Transjugular intrahepatic portosystemic shunt (TIPS) Venous shunt surgery While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%). You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by clicking here.",GARD,Budd-Chiari syndrome +"What are the symptoms of Thalamic degeneration, symmetric infantile ?","What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Thalamic degeneration, symmetric infantile" +What are the symptoms of Liver failure acute infantile ?,"What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal distention - Abnormality of the coagulation cascade - Acute hepatic failure - Autosomal recessive inheritance - Elevated hepatic transaminases - Feeding difficulties in infancy - Hepatomegaly - Hyperbilirubinemia - Increased serum lactate - Jaundice - Lactic acidosis - Macrovesicular hepatic steatosis - Microvesicular hepatic steatosis - Mitochondrial respiratory chain defects - Muscular hypotonia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Liver failure acute infantile +What are the symptoms of Autosomal recessive axonal neuropathy with neuromyotonia ?,"What are the signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Fasciculations - Foot dorsiflexor weakness - Hyperhidrosis - Muscle cramps - Muscle stiffness - Myokymia - Myotonia - Progressive - Sensory axonal neuropathy - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal recessive axonal neuropathy with neuromyotonia +What is (are) Hereditary sensory neuropathy type 1 ?,"Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.",GARD,Hereditary sensory neuropathy type 1 +What are the symptoms of Hereditary sensory neuropathy type 1 ?,"What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary sensory neuropathy type 1 +Is Hereditary sensory neuropathy type 1 inherited ?,"How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent.",GARD,Hereditary sensory neuropathy type 1 +How to diagnose Hereditary sensory neuropathy type 1 ?,"Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified HSN1C is caused by mutations in the SPTLC2 gene HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A) HSN1E is caused by mutations in the DNMT1 gene The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1. If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.",GARD,Hereditary sensory neuropathy type 1 +What are the treatments for Hereditary sensory neuropathy type 1 ?,"How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains.",GARD,Hereditary sensory neuropathy type 1 +What is (are) Noonan syndrome 6 ?,"Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.",GARD,Noonan syndrome 6 +What are the symptoms of Noonan syndrome 6 ?,"What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asymmetry of the thorax 100% Cryptorchidism 100% Curly hair 100% Generalized hypotonia 100% Hyperkeratosis 100% Hypertelorism 100% Low-set ears 100% Short stature 100% Webbed neck 100% Hypertrophic cardiomyopathy 3 of 4 Macrocephaly 3 of 4 Pulmonic stenosis 3 of 4 Intellectual disability, mild 2 of 4 Myopia 2 of 4 Delayed speech and language development 1 of 4 The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Noonan syndrome 6 +What are the treatments for Noonan syndrome 6 ?,How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.,GARD,Noonan syndrome 6 +What are the symptoms of Trigger thumb ?,"What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the thumb - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Trigger thumb +What is (are) Dermatitis herpetiformis ?,"Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms may include fluid-filled sores; red lesions that resemble hives; and itchiness, redness and burning. The exact cause of this disease is not known, but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.",GARD,Dermatitis herpetiformis +What are the symptoms of Dermatitis herpetiformis ?,"What are the signs and symptoms of Dermatitis herpetiformis ? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatitis herpetiformis . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Autoimmunity 90% Hypermelanotic macule 90% Malabsorption 90% Microcytic anemia 90% Pruritus 90% Recurrent fractures 90% Urticaria 90% Eczema 50% Bone pain 7.5% Edema 7.5% Lichenification 7.5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermatitis herpetiformis +What are the treatments for Dermatitis herpetiformis ?,"How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. When this medication is used to relieve the symptoms of dermatitis herpetiformis, it should be taken in the smallest effective dose and for the shortest period possible. In some cases, immunosuppressive medications may be used. These medications do not appear to be as effective. A strict gluten-free diet is also recommended to help control the disease. Following this diet may eliminate the need for medications and prevent later complications.",GARD,Dermatitis herpetiformis +"What are the symptoms of Thyroid cancer, follicular ?","What are the signs and symptoms of Thyroid cancer, follicular? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid cancer, follicular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Follicular thyroid carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Thyroid cancer, follicular" +What is (are) Congenital deafness with vitiligo and achalasia ?,"Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.",GARD,Congenital deafness with vitiligo and achalasia +What are the symptoms of Congenital deafness with vitiligo and achalasia ?,"What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EEG abnormality 90% Hypopigmented skin patches 90% Sensorineural hearing impairment 90% Short stature 90% Skeletal muscle atrophy 90% Achalasia - Autosomal recessive inheritance - Hearing impairment - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital deafness with vitiligo and achalasia +What are the symptoms of Scalp defects postaxial polydactyly ?,"What are the signs and symptoms of Scalp defects postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp defects postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 50% Encephalocele 50% Skull defect 50% Aplasia cutis congenita of scalp - Autosomal dominant inheritance - Postaxial polydactyly type A - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scalp defects postaxial polydactyly +What is (are) Weaver syndrome ?,"Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Weaver syndrome +What are the symptoms of Weaver syndrome ?,"What are the signs and symptoms of Weaver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weaver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Accelerated skeletal maturation 90% Broad forehead 90% Cognitive impairment 90% Cutis laxa 90% Hypertelorism 90% Hypoplastic toenails 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Macrotia 90% Tall stature 90% Abnormality of thumb phalanx 50% Broad foot 50% Camptodactyly of finger 50% Deep philtrum 50% Fine hair 50% Hernia of the abdominal wall 50% Large hands 50% Limitation of joint mobility 50% Round face 50% Cryptorchidism 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Joint hypermobility 7.5% Pes cavus 7.5% Sandal gap 7.5% Scoliosis 7.5% Talipes 7.5% Abnormally low-pitched voice - Absent septum pellucidum - Autosomal dominant inheritance - Behavioral abnormality - Broad thumb - Calcaneovalgus deformity - Camptodactyly - Chin dimple - Clinodactyly - Coxa valga - Deep-set nails - Delayed speech and language development - Depressed nasal bridge - Diastasis recti - Dilation of lateral ventricles - Dysarthria - Dysharmonic bone age - Epicanthus - Flared femoral metaphysis - Flared humeral metaphysis - Hydrocele testis - Hypertonia - Hypoplastic iliac wing - Inguinal hernia - Intellectual disability - Inverted nipples - Joint contracture of the hand - Kyphosis - Limited elbow extension - Limited knee extension - Mandibular prognathia - Muscular hypotonia - Overlapping toe - Prominent fingertip pads - Radial deviation of finger - Retrognathia - Seizures - Short fourth metatarsal - Short ribs - Slurred speech - Sparse hair - Spasticity - Strabismus - Talipes equinovarus - Thin nail - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Weaver syndrome +"What are the symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus ?","What are the signs and symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the ribs 90% Craniofacial hyperostosis 90% Torus palatinus 90% Abnormal form of the vertebral bodies 50% Facial palsy 7.5% Mandibular prognathia 7.5% Nystagmus 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Clavicular sclerosis - Dental malocclusion - Flat forehead - Growth abnormality - Metacarpal diaphyseal endosteal sclerosis - Metatarsal diaphyseal endosteal sclerosis - Thickened cortex of long bones - Vertebral body sclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" +What are the symptoms of Familial glucocorticoid deficiency ?,"What are the signs and symptoms of Familial glucocorticoid deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial glucocorticoid deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation - Autosomal recessive inheritance - Coma - Decreased circulating cortisol level - Failure to thrive - Hyperpigmentation of the skin - Increased circulating ACTH level - Recurrent hypoglycemia - Recurrent infections - Seizures - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial glucocorticoid deficiency +What are the symptoms of Chromosome Xp22 deletion syndrome ?,"What are the signs and symptoms of Chromosome Xp22 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome Xp22 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autistic behavior 100% Muscular hypotonia 5% Aggressive behavior - Attention deficit hyperactivity disorder - Impulsivity - Intellectual disability - Motor tics - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome Xp22 deletion syndrome +"What are the symptoms of Renal tubular acidosis, distal, autosomal dominant ?","What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypocalcemia - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Renal tubular acidosis, distal, autosomal dominant" +"What are the symptoms of Blepharophimosis with ptosis, syndactyly, and short stature ?","What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cranial nerves 90% Blepharophimosis 90% Highly arched eyebrow 90% Mandibular prognathia 90% Ptosis 90% Strabismus 90% Synophrys 90% Thick eyebrow 90% Short stature 50% Abnormality of the sense of smell 7.5% Cognitive impairment 7.5% Hypertelorism 7.5% Thick lower lip vermilion 7.5% Abnormality of the foot - Anosmia - Autosomal recessive inheritance - Cutaneous finger syndactyly - Esotropia - Frontalis muscle weakness - Intellectual disability, borderline - Weak extraocular muscles - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Blepharophimosis with ptosis, syndactyly, and short stature" +What are the symptoms of Zori Stalker Williams syndrome ?,"What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Short stature 90% Broad forehead 50% Macrocephaly 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Hypoplastic toenails 7.5% Muscular hypotonia 7.5% Pectus excavatum 7.5% Prominent supraorbital ridges 7.5% Short nose 7.5% Autosomal dominant inheritance - Hypoplasia of midface - Malar flattening - Nail dysplasia - Prominent forehead - Relative macrocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Zori Stalker Williams syndrome +What are the symptoms of Microphthalmia associated with colobomatous cyst ?,"What are the signs and symptoms of Microphthalmia associated with colobomatous cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia associated with colobomatous cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Microphthalmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia associated with colobomatous cyst +What is (are) Roberts syndrome ?,"Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.",GARD,Roberts syndrome +What are the symptoms of Roberts syndrome ?,"What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Roberts syndrome +How to diagnose Roberts syndrome ?,"How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.",GARD,Roberts syndrome +What are the symptoms of Microphthalmia syndromic 6 ?,"What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia syndromic 6 +What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ?,"Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Autosomal dominant neuronal ceroid lipofuscinosis 4B +What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ?,"What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Dementia - Depression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Granular osmiophilic deposits (GROD) in cells - Increased neuronal autofluorescent lipopigment - Myoclonus - Parkinsonism - Rapidly progressive - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Seizures - Visual hallucinations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Autosomal dominant neuronal ceroid lipofuscinosis 4B +What is (are) Pachydermoperiostosis ?,"Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.",GARD,Pachydermoperiostosis +What are the symptoms of Pachydermoperiostosis ?,"What are the signs and symptoms of Pachydermoperiostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachydermoperiostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the fontanelles or cranial sutures 90% Bone pain 90% Osteomyelitis 90% Seborrheic dermatitis 90% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the knees 50% Abnormality of the scalp 50% Abnormality of the tibia 50% Acne 50% Arthralgia 50% Arthritis 50% Clubbing of toes 50% Coarse facial features 50% Joint swelling 50% Limitation of joint mobility 50% Osteoarthritis 50% Osteolysis 50% Ptosis 50% Abnormality of the gastric mucosa 7.5% Anemia 7.5% Aseptic necrosis 7.5% Cerebral palsy 7.5% Deviation of finger 7.5% Gastrointestinal hemorrhage 7.5% Genu varum 7.5% Growth hormone excess 7.5% Gynecomastia 7.5% Hepatomegaly 7.5% Impaired temperature sensation 7.5% Malabsorption 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Palmoplantar keratoderma 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Short palm 7.5% Splenomegaly 7.5% Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Clubbing - Clubbing of fingers - Congenital onset - Cutis gyrata of scalp - Disproportionate tall stature - Eczematoid dermatitis - High palate - Hyperhidrosis - Large fontanelles - Long clavicles - Osteolytic defects of the phalanges of the hand - Osteopenia - Osteoporosis - Palmoplantar hyperkeratosis - Patent ductus arteriosus - Pectus excavatum - Periosteal thickening of long tubular bones - Redundant skin - Thickened calvaria - Thickened skin - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pachydermoperiostosis +What are the treatments for Pachydermoperiostosis ?,"How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling. Skin-related symptoms may be treated with retinoids. Plastic surgery may be performed to improve facial appearance in some individuals. Surgery may also be performed to treat clubbing of fingers and/or toes.",GARD,Pachydermoperiostosis +What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ?,"What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aortic arch anomaly - peculiar facies - intellectual disability +What are the symptoms of Bardet-Biedl syndrome 7 ?,"What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bardet-Biedl syndrome 7 +What is (are) Cholesteatoma ?,"Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications.",GARD,Cholesteatoma +What are the symptoms of Cholesteatoma ?,"What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection.",GARD,Cholesteatoma +What causes Cholesteatoma ?,"What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cyst gets bigger, some of the middle ear bones break down, affecting hearing. A rare congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones.",GARD,Cholesteatoma +What are the treatments for Cholesteatoma ?,"How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controlling the infection. Large or complicated cholesteatomas may require surgical treatment to protect the patient from serious complications.",GARD,Cholesteatoma +What is (are) Schimke immunoosseous dysplasia ?,"Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system. Growth failure is often the first sign of this condition. Other features are usually detected in the evaluation for growth failure or in the following years. The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form. Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern. Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia. However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.",GARD,Schimke immunoosseous dysplasia +What are the symptoms of Schimke immunoosseous dysplasia ?,"What are the signs and symptoms of Schimke immunoosseous dysplasia? Schimke immunoosseous dysplasia is characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness. Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose. Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females. In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke immunoosseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Cellular immunodeficiency 90% Depressed nasal bridge 90% Glomerulopathy 90% Intrauterine growth retardation 90% Lymphopenia 90% Melanocytic nevus 90% Microdontia 90% Nephrotic syndrome 90% Proteinuria 90% Short neck 90% Thrombocytopenia 90% Cafe-au-lait spot 50% Abnormal immunoglobulin level - Abnormality of T cells - Arteriosclerosis - Astigmatism - Autosomal recessive inheritance - Bulbous nose - Coarse hair - Disproportionate short-trunk short stature - Fine hair - Focal segmental glomerulosclerosis - High pitched voice - Hypermelanotic macule - Hypertension - Hypoplasia of the capital femoral epiphysis - Lateral displacement of the femoral head - Lumbar hyperlordosis - Motor delay - Myopia - Neutropenia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Platyspondyly - Protuberant abdomen - Recurrent infections - Renal insufficiency - Shallow acetabular fossae - Spondyloepiphyseal dysplasia - Thoracic kyphosis - Thyroid-stimulating hormone excess - Transient ischemic attack - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schimke immunoosseous dysplasia +How to diagnose Schimke immunoosseous dysplasia ?,"How is Schimke immunoosseous dysplasia diagnosed? The diagnosis of SIOD is made on clinical findings. The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules. DNA testing for mutations in SMARCAL1 is available on a clinical basis.",GARD,Schimke immunoosseous dysplasia +What are the treatments for Schimke immunoosseous dysplasia ?,"How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia. Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.",GARD,Schimke immunoosseous dysplasia +What is (are) Hydranencephaly ?,"Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.",GARD,Hydranencephaly +What are the treatments for Hydranencephaly ?,"How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain).",GARD,Hydranencephaly +What are the symptoms of Campomelia Cumming type ?,"What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ribs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cleft palate 90% Clubbing of toes 90% Cystic hygroma 90% Dolichocephaly 90% Micromelia 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Polycystic kidney dysplasia 90% Prematurely aged appearance 90% Skeletal dysplasia 90% Abnormal vertebral ossification 50% Aplasia/Hypoplasia of the lungs 50% Hepatomegaly 50% Hydrops fetalis 50% Sacrococcygeal pilonidal abnormality 50% Abnormality of the intestine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Coarse facial features 7.5% Lymphedema 7.5% Autosomal recessive inheritance - Pancreatic cysts - Polycystic liver disease - Polysplenia - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Campomelia Cumming type +What is (are) Tay-Sachs disease ?,"Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern.",GARD,Tay-Sachs disease +What are the symptoms of Tay-Sachs disease ?,"What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tay-Sachs disease +What causes Tay-Sachs disease ?,"What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease,",GARD,Tay-Sachs disease +Is Tay-Sachs disease inherited ?,"How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.",GARD,Tay-Sachs disease +What are the treatments for Tay-Sachs disease ?,"How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions. Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation.",GARD,Tay-Sachs disease +What are the symptoms of Kleiner Holmes syndrome ?,"What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kleiner Holmes syndrome +What is (are) Fuchs endothelial corneal dystrophy ?,"Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene). Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.",GARD,Fuchs endothelial corneal dystrophy +Is Fuchs endothelial corneal dystrophy inherited ?,"How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.",GARD,Fuchs endothelial corneal dystrophy +What is (are) Neuroleptic malignant syndrome ?,"Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms.",GARD,Neuroleptic malignant syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 2G ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 2G +What is (are) Muckle-Wells syndrome ?,"Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.",GARD,Muckle-Wells syndrome +What are the symptoms of Muckle-Wells syndrome ?,"What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Arthritis 90% Broad foot 90% Cranial nerve paralysis 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Nephropathy 50% Nephrotic syndrome 50% Urticaria 50% Abnormality of temperature regulation 7.5% Abnormality of the genital system 7.5% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Abnormality of the voice 7.5% Anemia 7.5% Camptodactyly of finger 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Ichthyosis 7.5% Macrocephaly 7.5% Myalgia 7.5% Optic atrophy 7.5% Pes cavus 7.5% Polyneuropathy 7.5% Restrictive lung disease 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Vasculitis 7.5% Abnormality of the skin - Autosomal dominant inheritance - Conjunctivitis - Elevated erythrocyte sedimentation rate - Episodic fever - Hearing impairment - Infantile onset - Leukocytosis - Progressive sensorineural hearing impairment - Recurrent aphthous stomatitis - Renal amyloidosis - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muckle-Wells syndrome +What is (are) Gorham's disease ?,"Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvis. The cause of Gorham's disease is currently unknown. Most cases occur randomly. Treatment is based on the signs and symptoms present in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).",GARD,Gorham's disease +What are the symptoms of Gorham's disease ?,"What are the signs and symptoms of Gorham's disease? Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms. Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Gorham's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cystic angiomatosis of bone - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gorham's disease +What are the treatments for Gorham's disease ?,"How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease. All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.",GARD,Gorham's disease +What are the symptoms of Retinopathy pigmentary mental retardation ?,"What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly - Autosomal recessive inheritance - Cataract - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Joint hypermobility - Microcephaly - Moderately short stature - Myopia - Narrow palm - Pigmentary retinal degeneration - Reduced visual acuity - Retinopathy - Scoliosis - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinopathy pigmentary mental retardation +What is (are) Fumarase deficiency ?,"Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.",GARD,Fumarase deficiency +What are the symptoms of Fumarase deficiency ?,"What are the signs and symptoms of Fumarase deficiency? Most newborns with fumarase deficiency show severe neurologic abnormalities, including poor feeding, failure to thrive, and poor muscle tone (hypotonia). Early-onset infantile encephalopathy (altered brain structure or function), seizures, and severe developmental delay with microcephaly are also common. Other signs and symptoms may include infantile spasms, abnormal posturing of the limbs, and autistic features. Distinctive facial features have been reported in some affected individuals and have included an unusually prominent forehead (frontal bossing); low-set ears; a small jaw (micrognathia); widely-spaced eyes (ocular hypertelorism); depressed nasal bridge; and high-arched palate. Other findings in affected individuals can include neonatal polycythemia (an excess of red blood cells); leukopenia (deficiency of white blood cells); neutropenia; enlarged liver and spleen (hepatosplenomegaly); and pancreatitis. Many children with this condition do not survive infancy or childhood. Those surviving beyond childhood have severe psychomotor deficits. The Human Phenotype Ontology provides the following list of signs and symptoms for Fumarase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Aminoaciduria - Anteverted nares - Autosomal recessive inheritance - Cerebral atrophy - Cholestasis - Choroid plexus cyst - Cutaneous leiomyoma - Decreased subcutaneous fat - Depressed nasal bridge - Failure to thrive - Frontal bossing - Hepatic failure - High palate - Hypertelorism - Hypoplasia of the brainstem - Intellectual disability, profound - Lactic acidosis - Metabolic acidosis - Microcephaly - Muscular hypotonia - Neurological speech impairment - Open operculum - Optic atrophy - Pallor - Polycythemia - Polymicrogyria - Relative macrocephaly - Status epilepticus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fumarase deficiency +What causes Fumarase deficiency ?,"What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.",GARD,Fumarase deficiency +What are the treatments for Fumarase deficiency ?,How might fumarase deficiency be treated? There is currently no effective treatment for fumarase deficiency. Nutritional intervention may be appropriate for children with feeding difficulties. Physical therapy and wheelchairs can also be useful for some individuals.,GARD,Fumarase deficiency +What are the symptoms of Osteosclerosis with ichthyosis and premature ovarian failure ?,"What are the signs and symptoms of Osteosclerosis with ichthyosis and premature ovarian failure? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteosclerosis with ichthyosis and premature ovarian failure. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorioretinal abnormality 90% Edema of the lower limbs 90% Ichthyosis 90% Increased bone mineral density 90% Secondary amenorrhea 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Osteosclerosis with ichthyosis and premature ovarian failure +What is (are) Cone-rod dystrophy ?,"Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness. Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness.",GARD,Cone-rod dystrophy +What are the symptoms of Cone-rod dystrophy ?,"What are the signs and symptoms of Cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Nyctalopia 90% Photophobia 90% Abnormality of color vision 50% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cone-rod dystrophy +What are the treatments for Cone-rod dystrophy ?,"How might cone-rod dystrophy be treated? Currently, there is no therapy that stops the evolution of cone-rod dystrophy or restores vision. There are a few treatment options, such as light avoidance and the use of low-vision aids that may help to slow down the degenerative process. It is important that people with cone-rod dystrophy recieve support and resources to help them cope with the social and psychological impact of vision loss.",GARD,Cone-rod dystrophy +What is (are) Parkinson disease ?,"Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. These symptoms usually begin gradually and worsen with time. As they become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. Not everyone with one or more of these symptoms has Parkinson disease, as the symptoms sometimes appear in other diseases as well. Parkinson disease affects about 1 to 2 percent of people over the age of 60 years and the chance of developing Parkinson disease increases as we age. Although some Parkinson disease cases appear to be hereditary most cases are sporadic and occur in people with no apparent history of the disorder in their family. When three or more people are affected in a family, especially if they are diagnosed at an early age (under 50 years) there may be a gene making this family more likely to develop the condition. Currently, seven genes that cause some form of Parkinson's disease have been identified. Mutations (changes) in three known genes called SNCA (PARK1),UCHL1 (PARK 5), and LRRK2 (PARK8) and another mapped gene (PARK3) have been reported in families with dominant inheritance. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6) have been found in affected individuals who had siblings with the condition but whose parents did not have Parkinson's disease (recessive inheritance). There is some research to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or in dominantly inherited Parkinson's disease but it is too early yet to be certain. However, in most cases inheriting a mutation will not cause someone to develop Parkinson's disease because there may be additional genes and environmental factors determining who will get the condition, when they get it and how it affects them.",GARD,Parkinson disease +What are the symptoms of Parkinson disease ?,"What are the signs and symptoms of Parkinson disease? A number of disorders can cause symptoms similar to those of Parkinson disease. People with symptoms that resemble Parkinson disease but that result from other causes are sometimes said to have parkinsonism. Some of these disorders are listed below. Postencephalitic parkinsonism Drug-induced parkinsonism Toxin-induced parkinsonism Arteriosclerotic parkinsonism Parkinsonism-dementia complex of Guam Post-traumatic parkinsonism Essential tremor Normal pressure hydrocephalus Progressive supranuclear palsy Corticobasal degeneration Multiple system atrophy Dementia with Lewy bodies More information on each of these conditions is available in the National Institute of Neurological Disorders and Stroke (NINDS) publication, Parkinson's Disease: Hope Through Research. Parkinsonian symptoms may also appear in patients with other, clearly distinct neurological disorders such as Wilson disease, Huntington disease, Alzheimer disease, spinocerebellar ataxias, and Creutzfeldt-Jakob disease. Each of these disorders has specific features that help to distinguish them from Parkinson disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Hallucinations 7.5% Bradykinesia - Constipation - Dementia - Depression - Dysarthria - Dysphagia - Dystonia - Insidious onset - Lewy bodies - Mask-like facies - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Postural instability - Progressive - Resting tremor - Rigidity - Short stepped shuffling gait - Sleep disturbance - Substantia nigra gliosis - Urinary urgency - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Parkinson disease +What causes Parkinson disease ?,"What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation. More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information.",GARD,Parkinson disease +Is Parkinson disease inherited ?,"Is Parkinson disease inherited? Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. Additionally, certain drugs may cause Parkinson-like symptoms. Approximately 15 percent of people with Parkinson disease have a family history of the disorder. These familial cases are caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not yet been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic. It is not fully understood how mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene cause Parkinson disease. Some mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins. As a result, un-degraded proteins accumulate, leading to the impairment or death of dopamine-producing neurons. Other mutations may involve mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules, called free radicals, that can damage the cell. Normally, the cell neutralizes free radicals, but some gene mutations may disrupt this neutralization process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons. In some families, alterations in the GBA, SNCAIP, or UCHL1 gene appear to modify the risk of developing Parkinson disease. Researchers have identified some genetic changes that may reduce the risk of developing the disease, while other gene alterations seem to increase the risk.",GARD,Parkinson disease +How to diagnose Parkinson disease ?,"How is Parkinson disease diagnosed? There are currently no blood or laboratory tests that have been proven to help diagnose sporadic cases of Parkinson disease. The diagnosis is generally made after careful evaluation of medical history, current symptoms, and exclusion of other conditions. The clinical findings of tremor, rigidity, and bradykinesia are highly suggestive of Parkinson disease. The genetic cause of some forms of Parkinson disease has been identified. In those cases, genetic testing may be utilized to identify affected family members.",GARD,Parkinson disease +What is (are) Cockayne syndrome type II ?,"Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or ""moderate"" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or ""early-onset"" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.",GARD,Cockayne syndrome type II +What are the symptoms of Cockayne syndrome type II ?,"What are the signs and symptoms of Cockayne syndrome type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the hair - Abnormality of the pinna - Abnormality of visual evoked potentials - Anhidrosis - Arrhythmia - Ataxia - Atypical scarring of skin - Autosomal recessive inheritance - Basal ganglia calcification - Carious teeth - Cataract - Cerebellar calcifications - Cerebral atrophy - Cryptorchidism - Cutaneous photosensitivity - Decreased lacrimation - Decreased nerve conduction velocity - Delayed eruption of primary teeth - Dental malocclusion - Dermal atrophy - Dry hair - Dry skin - Hepatomegaly - Hypermetropia - Hypertension - Hypoplasia of teeth - Hypoplasia of the iris - Hypoplastic iliac wing - Hypoplastic pelvis - Increased cellular sensitivity to UV light - Intellectual disability - Intrauterine growth retardation - Ivory epiphyses of the phalanges of the hand - Kyphosis - Limitation of joint mobility - Loss of facial adipose tissue - Mandibular prognathia - Microcephaly - Microcornea - Micropenis - Microphthalmia - Muscle weakness - Normal pressure hydrocephalus - Nystagmus - Opacification of the corneal stroma - Optic atrophy - Osteoporosis - Patchy demyelination of subcortical white matter - Peripheral dysmyelination - Pigmentary retinopathy - Polyneuropathy - Postnatal growth retardation - Progeroid facial appearance - Proteinuria - Reduced subcutaneous adipose tissue - Renal insufficiency - Seizures - Sensorineural hearing impairment - Severe failure to thrive - Severe short stature - Slender nose - Small for gestational age - Sparse hair - Splenomegaly - Square pelvis bone - Strabismus - Subcortical white matter calcifications - Thickened calvaria - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cockayne syndrome type II +What are the symptoms of Microphthalmia syndromic 9 ?,"What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia syndromic 9 +What is (are) Andersen-Tawil syndrome ?,"Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by mutations in the KCNJ2 gene. The cause of the remaining cases remains unknown. This condition is inherited in an autosomal dominant pattern.",GARD,Andersen-Tawil syndrome +What are the symptoms of Andersen-Tawil syndrome ?,"What are the signs and symptoms of Andersen-Tawil syndrome? Anderson-Tawil syndrome causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting, or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). The Human Phenotype Ontology provides the following list of signs and symptoms for Andersen-Tawil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Specific learning disability 7.5% Antegonial notching of mandible - Autosomal dominant inheritance - Bidirectional ventricular ectopy - Blepharophimosis - Brachydactyly syndrome - Broad forehead - Bulbous nose - Cleft palate - Clinodactyly of the 5th finger - Clinodactyly of the 5th toe - Delayed eruption of permanent teeth - Delayed skeletal maturation - Facial asymmetry - Growth abnormality - High palate - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the maxilla - Joint laxity - Low-set ears - Malar flattening - Microcephaly - Oligodontia - Palpitations - Periodic hypokalemic paresis - Persistence of primary teeth - Preauricular pit - Prolonged QT interval - Prominent frontal sinuses - Scapular winging - Scoliosis - Short foot - Short mandibular rami - Short metacarpal - Short metatarsal - Short palm - Short palpebral fissure - Short phalanx of finger - Slender long bone - Small hand - Syncope - Toe syndactyly - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Andersen-Tawil syndrome +How to diagnose Andersen-Tawil syndrome ?,"Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Andersen-Tawil syndrome diagnosed? The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either: 1. Two of the following three criteria: Periodic paralysis Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG) Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or 2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria. The presence of a mutation in the KCNJ2 gene confirms the diagnosis of Andersen-Tawil syndrome.",GARD,Andersen-Tawil syndrome +What are the symptoms of Dystelephalangy ?,"What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Curved distal phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dystelephalangy +What is (are) Charcot-Marie-Tooth disease ?,"Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping"" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.",GARD,Charcot-Marie-Tooth disease +What are the symptoms of Charcot-Marie-Tooth disease ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease +What are the symptoms of Alveolar capillary dysplasia ?,"What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 90% Respiratory insufficiency 90% Hypoplastic left heart 50% Intestinal malrotation 50% Patent ductus arteriosus 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the spleen 7.5% Abnormality of the upper urinary tract 7.5% Aganglionic megacolon 7.5% Annular pancreas 7.5% Atria septal defect 7.5% Complete atrioventricular canal defect 7.5% Duodenal stenosis 7.5% Single umbilical artery 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormal lung lobation - Abnormality of the pulmonary veins - Autosomal recessive inheritance - Duodenal atresia - Hydronephrosis - Hydroureter - Hypertension - Meckel diverticulum - Neonatal death - Polyhydramnios - Pulmonary insufficiency - Right-to-left shunt - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Alveolar capillary dysplasia +What is (are) Peters plus syndrome ?,"Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.",GARD,Peters plus syndrome +What are the symptoms of Peters plus syndrome ?,"What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior chamber of the eye (e.g. Peters' anomaly); glaucoma; cataract Short stature Developmental delay Characteristic facial features (e.g. cleft lip and plate) Other associated findings (e.g congenital heart defects; anomalies of the kidney; structural brain malformations; congenital hypothyroidism; conductive hearing loss) The Human Phenotype Ontology provides the following list of signs and symptoms for Peters plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior chamber synechiae 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Exaggerated cupid's bow 90% Glaucoma 90% Intrauterine growth retardation 90% Long philtrum 90% Micromelia 90% Opacification of the corneal stroma 90% Round face 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the pulmonary artery 50% Blepharophimosis 50% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Frontal bossing 50% Hypertelorism 50% Microcornea 50% Nystagmus 50% Oral cleft 50% Preauricular skin tag 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Webbed neck 50% Intellectual disability, progressive 20% Abnormality of female external genitalia 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the nipple 7.5% Abnormality of the ureter 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Conductive hearing impairment 7.5% Depressed nasal bridge 7.5% Intestinal fistula 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Multicystic kidney dysplasia 7.5% Optic atrophy 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Sacral dimple 7.5% Short nose 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Agenesis of maxillary lateral incisor - Atria septal defect - Autosomal recessive inheritance - Biliary tract abnormality - Bilobate gallbladder - Birth length less than 3rd percentile - Broad neck - Cerebral atrophy - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Conical incisor - Craniosynostosis - Decreased body weight - Diastasis recti - Facial hypertrichosis - Feeding difficulties in infancy - Hemivertebrae - Hydrocephalus - Hydronephrosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Hypospadias - Joint laxity - Limited elbow movement - Macrocephaly - Microtia, second degree - Myopia - Pectus excavatum - Pes cavus - Peters anomaly - Postnatal growth retardation - Preauricular pit - Prominent forehead - Protruding ear - Proximal placement of thumb - Ptosis - Pulmonic stenosis - Retinal coloboma - Rhizomelia - Scoliosis - Seizures - Short foot - Short lingual frenulum - Short metacarpal - Short metatarsal - Short palm - Single transverse palmar crease - Square pelvis bone - Stenosis of the external auditory canal - Syndactyly - Ureteral duplication - Ventricular septal defect - Wide anterior fontanel - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Peters plus syndrome +What causes Peters plus syndrome ?,"Is there anything that I might have done that could have caused or prevented Peters plus syndrome? No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome.",GARD,Peters plus syndrome +Is Peters plus syndrome inherited ?,"How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typically do not show signs and symptoms of Peters plus syndrome.",GARD,Peters plus syndrome +How to diagnose Peters plus syndrome ?,"Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your health care provider or a genetics professional to contact the laboratories offering prenatal testing.",GARD,Peters plus syndrome +What are the treatments for Peters plus syndrome ?,"What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examination Kidney examination Head examination Thyroid testing Hearing assessment Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Agents, like corticosteroids, should be avoided, as they increase the risk of glaucoma.",GARD,Peters plus syndrome +What are the symptoms of Charcot-Marie-Tooth disease type 1F ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Clusters of axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Juvenile onset - Motor delay - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1F +What is (are) Hypersensitivity vasculitis ?,"Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers). This condition is caused by an allergic reaction to a drug or other foreign substance. This condition usually goes away over time; but on occasion, people can have repeated episodes.",GARD,Hypersensitivity vasculitis +What are the symptoms of Hypersensitivity vasculitis ?,"What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Cutis marmorata 90% Gangrene 90% Myalgia 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Arthralgia 50% Skin rash 50% Abnormality of the oral cavity 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypersensitivity vasculitis +What is (are) Blepharospasm ?,"Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. Most cases are treated with botulinum toxin injections. The exact cause of benign essential blepharospasm is unknown.",GARD,Blepharospasm +What are the symptoms of Blepharospasm ?,"What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharospasm - Middle age onset - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Blepharospasm +What is (are) Kawasaki syndrome ?,"Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting.",GARD,Kawasaki syndrome +What are the symptoms of Kawasaki syndrome ?,"What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cheilitis 90% Glossitis 90% Inflammatory abnormality of the eye 90% Lymphadenopathy 90% Proteinuria 90% Recurrent pharyngitis 90% Skin rash 90% Vasculitis 90% Abdominal pain 50% Abnormality of nail color 50% Abnormality of temperature regulation 50% Abnormality of the heart valves 50% Abnormality of the pericardium 50% Arthritis 50% Diarrhea 50% Dry skin 50% Edema 50% Leukocytosis 50% Abnormality of the myocardium 7.5% Arrhythmia 7.5% Arthralgia 7.5% Aseptic leukocyturia 7.5% Behavioral abnormality 7.5% Biliary tract abnormality 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Dilatation of the ascending aorta 7.5% Meningitis 7.5% Migraine 7.5% Nausea and vomiting 7.5% Ptosis 7.5% Restrictive lung disease 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kawasaki syndrome +What causes Kawasaki syndrome ?,"What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another.",GARD,Kawasaki syndrome +Is Kawasaki syndrome inherited ?,"Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown.",GARD,Kawasaki syndrome +What are the treatments for Kawasaki syndrome ?,"How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins. In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.'",GARD,Kawasaki syndrome +What is (are) Neuroferritinopathy ?,"Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.",GARD,Neuroferritinopathy +What are the symptoms of Neuroferritinopathy ?,"What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorea 90% Hypertonia 90% Incoordination 90% Abnormality of eye movement 50% Feeding difficulties in infancy 50% Gait disturbance 50% Constipation 7.5% Developmental regression 7.5% Hypotension 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Anarthria - Ataxia - Autosomal dominant inheritance - Babinski sign - Blepharospasm - Bradykinesia - Cavitation of the basal ganglia - Choreoathetosis - Decreased serum ferritin - Dementia - Disinhibition - Dysarthria - Dysphagia - Emotional lability - Hyperreflexia - Laryngeal dystonia - Mutism - Neurodegeneration - Parkinsonism - Phenotypic variability - Progressive - Rigidity - Spasticity - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neuroferritinopathy +What is (are) Satoyoshi syndrome ?,"Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.",GARD,Satoyoshi syndrome +What are the symptoms of Satoyoshi syndrome ?,"What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metaphyses 90% Abnormality of the wrist 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Microcephaly 90% Polycystic ovaries 90% Secondary amenorrhea 90% Short stature 90% Tapered finger 90% Brachydactyly syndrome 5% Short metacarpal 5% Short metatarsal 5% Alopecia universalis - Amenorrhea - Diarrhea - Genu valgum - Hypoplasia of the uterus - Malabsorption - Mildly elevated creatine phosphokinase - Osteolytic defects of the phalanges of the hand - Pes planus - Skeletal muscle hypertrophy - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Satoyoshi syndrome +What is (are) Leukoplakia ?,"Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases.",GARD,Leukoplakia +What are the symptoms of Leukoplakia ?,"What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed.",GARD,Leukoplakia +What are the treatments for Leukoplakia ?,"How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches. The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions. Recurrences are common, so follow-up visits with a physician are recommended.",GARD,Leukoplakia +What is (are) Spondylocostal dysostosis 4 ?,"Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.",GARD,Spondylocostal dysostosis 4 +What are the symptoms of Spondylocostal dysostosis 4 ?,"What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Hemivertebrae - Missing ribs - Myelomeningocele - Restrictive respiratory insufficiency - Rib fusion - Situs inversus totalis - Unilateral vertebral artery hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylocostal dysostosis 4 +What are the symptoms of Reticular dysgenesis ?,"What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reticular dysgenesis +What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ?,"What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bruising susceptibility 90% Hyperextensible skin 90% Joint hypermobility 90% Arthralgia 50% Joint dislocation 50% Muscle weakness 50% Muscular hypotonia 50% Myalgia 50% Peripheral neuropathy 50% Skeletal muscle atrophy 50% Thin skin 50% Abnormality of the mitral valve 7.5% Arrhythmia 7.5% Atherosclerosis 7.5% Cerebral ischemia 7.5% Gastrointestinal hemorrhage 7.5% Hypercortisolism 7.5% Spina bifida occulta 7.5% Increased connective tissue 5% Muscle fiber splitting 5% Proximal amyotrophy 5% Proximal muscle weakness 5% Ambiguous genitalia, female - Autosomal recessive inheritance - Bicornuate uterus - Hiatus hernia - Mitral valve prolapse - Soft skin - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ehlers-Danlos-like syndrome due to tenascin-X deficiency +What are the symptoms of Rienhoff syndrome ?,"What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachycephaly 5% Broad face 5% Bruising susceptibility 5% Cerebral hemorrhage 5% Cervical spine instability 5% Dolichocephaly 5% Hypoplasia of midface 5% Long face 5% Motor delay 5% Patent foramen ovale 5% Ptosis 5% Smooth philtrum 5% Spondylolisthesis 5% Talipes equinovarus 5% Ventricular septal defect 5% Arachnodactyly - Autosomal dominant inheritance - Bifid uvula - Bilateral coxa valga - Blue sclerae - Cleft palate - Decreased muscle mass - Exotropia - Hiatus hernia - High palate - Hypertelorism - Hyporeflexia - Increased arm span - Inguinal hernia - Joint hypermobility - Kyphoscoliosis - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Pes planus - Proptosis - Retrognathia - Short stature - Small for gestational age - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Rienhoff syndrome +What are the symptoms of Wellesley Carmen French syndrome ?,"What are the signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the oral cavity 50% Cataract 50% Cavernous hemangioma 50% Epicanthus 50% Hypermetropia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Short stature 50% Umbilical hernia 50% Accessory oral frenulum - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Curly hair - Posterior polar cataract - Posteriorly rotated ears - Short nose - Short palpebral fissure - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wellesley Carmen French syndrome +What is (are) Congenital varicella syndrome ?,"Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.",GARD,Congenital varicella syndrome +What are the symptoms of Congenital varicella syndrome ?,"What are the signs and symptoms of Congenital varicella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital varicella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atypical scarring of skin 90% Intrauterine growth retardation 90% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Microcephaly 50% Micromelia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital varicella syndrome +What are the symptoms of Spinocerebellar ataxia 28 ?,"What are the signs and symptoms of Spinocerebellar ataxia 28? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 28. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dystonia 5% Parkinsonism 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked nystagmus - Limb ataxia - Lower limb hyperreflexia - Ophthalmoparesis - Ptosis - Slow progression - Slow saccadic eye movements - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 28 +What is (are) Good syndrome ?,"Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis. While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved. Treatment includes removal of the thymic tumor and immunoglobulin replacement.",GARD,Good syndrome +What are the symptoms of Chondrocalcinosis 1 ?,"What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chondrocalcinosis - Osteoarthritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chondrocalcinosis 1 +What are the symptoms of Fallot complex with severe mental and growth retardation ?,"What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Macrotia 90% Short stature 90% Tetralogy of Fallot 90% Wide nasal bridge 90% Abnormality of the palate 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Microcephaly 50% Toe syndactyly 50% Hypertonia 7.5% Ptosis 7.5% Strabismus 7.5% Abnormality of the face - Autosomal recessive inheritance - Double outlet right ventricle - Failure to thrive - Intellectual disability - Pulmonic stenosis - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fallot complex with severe mental and growth retardation +What is (are) Glycogen storage disease type 1B ?,"Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes (mutations) in the SLC37A4 gene and is inherited in an autosomal recessive manner. Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications.",GARD,Glycogen storage disease type 1B +What are the symptoms of Glycogen storage disease type 1B ?,"What are the signs and symptoms of Glycogen storage disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased glomerular filtration rate - Delayed puberty - Doll-like facies - Elevated hepatic transaminases - Enlarged kidneys - Focal segmental glomerulosclerosis - Gout - Hepatocellular carcinoma - Hepatomegaly - Hyperlipidemia - Hypertension - Hypoglycemia - Lactic acidosis - Lipemia retinalis - Nephrolithiasis - Neutropenia - Oral ulcer - Osteoporosis - Pancreatitis - Proteinuria - Protuberant abdomen - Recurrent bacterial infections - Short stature - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 1B +What are the symptoms of Spinocerebellar ataxia autosomal recessive 3 ?,"What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Blindness - Cochlear degeneration - Hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia autosomal recessive 3 +What is (are) Desmoplastic infantile ganglioglioma ?,"Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. The standard treatment for DIGs is surgical resection (surgical procedure in which the portion of the brain with the tumor is removed).",GARD,Desmoplastic infantile ganglioglioma +What are the symptoms of Desmoplastic infantile ganglioglioma ?,"What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting.",GARD,Desmoplastic infantile ganglioglioma +How to diagnose Desmoplastic infantile ganglioglioma ?,"How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor.",GARD,Desmoplastic infantile ganglioglioma +What are the treatments for Desmoplastic infantile ganglioglioma ?,"What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. Adjuvant therapy is generally not performed when a gross total resection can be performed. When total resection is not possible, some of suggested chemotherapy, as the effects of radiation on extremely young children may be harmful.",GARD,Desmoplastic infantile ganglioglioma +What is (are) Camurati-Engelmann disease ?,"Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.",GARD,Camurati-Engelmann disease +What are the symptoms of Camurati-Engelmann disease ?,"What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. In the most severe cases, the mandibula (jaw), vertebrae, thoracic cage, shoulder girdle, and carpal (hands, wrist) and tarsal (foot, ankle) bones are involved. Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Camurati-Engelmann disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the humerus 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Bone pain 90% Hyperostosis 90% Skeletal dysplasia 90% Abnormality of the metaphyses 50% Limitation of joint mobility 50% Skeletal muscle atrophy 50% Abnormal facial shape 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Acrocyanosis 7.5% Anemia 7.5% Anorexia 7.5% Carious teeth 7.5% Delayed eruption of teeth 7.5% Disproportionate tall stature 7.5% Facial palsy 7.5% Feeding difficulties in infancy 7.5% Frontal bossing 7.5% Genu valgum 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hyperlordosis 7.5% Hypertrophic cardiomyopathy 7.5% Incoordination 7.5% Kyphosis 7.5% Leukopenia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Pes planus 7.5% Proptosis 7.5% Scoliosis 7.5% Splenomegaly 7.5% Autosomal dominant inheritance - Bone marrow hypocellularity - Cortical thickening of long bone diaphyses - Decreased subcutaneous fat - Delayed puberty - Diaphyseal sclerosis - Diplopia - Easy fatigability - Headache - Juvenile onset - Limb pain - Mandibular prognathia - Optic nerve compression - Poor appetite - Sclerosis of skull base - Slender build - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Camurati-Engelmann disease +What causes Camurati-Engelmann disease ?,"What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.",GARD,Camurati-Engelmann disease +Is Camurati-Engelmann disease inherited ?,"How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.",GARD,Camurati-Engelmann disease +How to diagnose Camurati-Engelmann disease ?,How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community.,GARD,Camurati-Engelmann disease +What are the treatments for Camurati-Engelmann disease ?,"How might Camurati-Engelmann disease (CED) be treated? Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. Corticosteroids may relieve some of the symptoms such as pain and weakness and can also improve gait and exercise tolerance, however corticosteroids have serious side effects with long term use. More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports. However, the effectiveness of losartan needs more study to determine if it is effective for those with CED and without major side effects. Exercise programs when they are tolerated have also been found to be beneficial. Please note, case reports report the clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another.",GARD,Camurati-Engelmann disease +What is (are) Familial pemphigus vulgaris ?,"Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur when the body's immune system mistakenly attacks healthy tissue (in this case, the skin and mucus membranes). Most cases of pemphigus vulgaris occur sporadically in people with no family history of the condition; however, rare reports exist of ""familial"" cases which affect more than one member of a single family. In these cases, the underlying genetic cause is unknown, although an association between pemphigus vulgaris and certain HLA antigens has been identified. Treatment generally includes medications and other strategies to decrease blister formation, prevent infections and promote healing.",GARD,Familial pemphigus vulgaris +What are the symptoms of Familial pemphigus vulgaris ?,"What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial pemphigus vulgaris +What is (are) Chromosome 19p deletion ?,"Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 19p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 19p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 19. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.",GARD,Chromosome 19p deletion +What is (are) Spinocerebellar ataxia 2 ?,"Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner.",GARD,Spinocerebellar ataxia 2 +What are the symptoms of Spinocerebellar ataxia 2 ?,"What are the signs and symptoms of Spinocerebellar ataxia 2? Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor; decreased muscle tone; poor tendon reflexes; abnormal eye movements; dementia; dystonia and/or chorea; muscle twitches; nerve irritation and swelling (polyneuropathy); leg weakness; difficulty swallowing; bladder dysfunction; and parkinsonism. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bradykinesia - Dementia - Dilated fourth ventricle - Distal amyotrophy - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysmetric saccades - Dysphagia - Fasciculations - Gaze-evoked nystagmus - Genetic anticipation - Hyporeflexia - Impaired horizontal smooth pursuit - Limb ataxia - Muscular hypotonia - Myoclonus - Oculomotor apraxia - Olivopontocerebellar atrophy - Ophthalmoplegia - Postural instability - Postural tremor - Progressive cerebellar ataxia - Rigidity - Rod-cone dystrophy - Slow saccadic eye movements - Spasticity - Spinocerebellar tract degeneration - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 2 +Is Spinocerebellar ataxia 2 inherited ?,"How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition. The ATXN2 gene mutations that cause SCA2 involve a DNA sequence called a 'CAG trinucleotide repeat.' It is made up of a series of three DNA building blocks (CAG stands for cytosine, adenine, and guanine) that appear multiple times in a row. The CAG sequence is normally repeated about 22 times in the gene, but it can be repeated up to 31 times without causing health problems. SCA2 develops in people who have 32 or more CAG repeats in the ATXN2 gene. In most cases, an affected person inherits the mutated gene (with too many repeats) from an affected parent. However, in some cases, an affected person does not have an affected parent. People with an increased number of CAG repeats who don't develop SCA2 are still at risk of having children who will develop the disorder. This is because as the gene is passed down from parent to child, the number of CAG repeats often increases. In general, the more repeats a person has, the earlier symptoms begin. This phenomenon is called anticipation. People with 32 or 33 repeats tend to develop symptoms in late adulthood, while people with more than 45 repeats often have symptoms by their teens. For some reason, the number of repeats tend to increase more when the gene is inherited from a person's father than when inherited from a person's mother. Each child of an affected person has a 50% chance of inheriting the CAG repeat expansion.",GARD,Spinocerebellar ataxia 2 +How to diagnose Spinocerebellar ataxia 2 ?,"Is genetic testing available for spinocerebellar ataxia 2? Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.",GARD,Spinocerebellar ataxia 2 +What are the treatments for Spinocerebellar ataxia 2 ?,"How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with SCA2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping.",GARD,Spinocerebellar ataxia 2 +What is (are) 16q24.3 microdeletion syndrome ?,"16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.",GARD,16q24.3 microdeletion syndrome +What are the symptoms of 16q24.3 microdeletion syndrome ?,"What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna 90% Autism 90% High forehead 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the corpus callosum 50% Cognitive impairment 50% Frontal bossing 50% Optic atrophy 50% Pointed chin 50% Seizures 50% Thrombocytopenia 50% Ventriculomegaly 50% Wide mouth 50% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Anteverted nares 7.5% Astigmatism 7.5% Cryptorchidism 7.5% Feeding difficulties in infancy 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hypertrophic cardiomyopathy 7.5% Kyphosis 7.5% Long face 7.5% Long philtrum 7.5% Macrocytic anemia 7.5% Myopia 7.5% Narrow forehead 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Otitis media 7.5% Preauricular skin tag 7.5% Proximal placement of thumb 7.5% Scoliosis 7.5% Strabismus 7.5% Thick lower lip vermilion 7.5% Triangular face 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,16q24.3 microdeletion syndrome +"What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ?","What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hepatomegaly 90% Ichthyosis 90% Splenomegaly 90% Abnormality of dental enamel 7.5% Acanthosis nigricans 7.5% Portal hypertension 7.5% Reduced number of teeth 7.5% Abnormality of blood and blood-forming tissues - Alopecia - Autosomal recessive inheritance - Cholangitis - Dry skin - Hypodontia - Hypoplasia of dental enamel - Hypotrichosis - Jaundice - Oligodontia - Orthokeratosis - Parakeratosis - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" +What is (are) Beta ketothiolase deficiency ?,"Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the ACAT1 gene.",GARD,Beta ketothiolase deficiency +What are the symptoms of Beta ketothiolase deficiency ?,"What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Episodic ketoacidosis - Intellectual disability - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Beta ketothiolase deficiency +What are the symptoms of Reticuloendotheliosis ?,"What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Hepatosplenomegaly - Infantile onset - Jaundice - Lymphadenopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reticuloendotheliosis +What is (are) Phacomatosis pigmentovascularis ?,"Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected. Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting.",GARD,Phacomatosis pigmentovascularis +What are the symptoms of Phacomatosis pigmentovascularis ?,"What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Examples of associated pigmentary lesions, include: Melanocytic nevi Epidermal nevi In addition to the port wine stain and pigmentary lesions, other skin lesions are not uncommon, such as: Nevus anemicus Cafe-au-lait spots Mongolian spots Nevus of Ota Nevus of Ito Nevus spilus Around half of people with PPV have systemic involvement (i.e., other body systems are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) is common. Ocular melanosis refers to a blue-gray pigmentation in the 'white of the eye' or sclerae. This condition often occurs along with nevus of Ota and may affect one or both eyes. The complications of nevus of Ota are glaucoma and melanoma, as a result people with nevus of Ota require careful examination and follow-up by an opthamologist. Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules. Some individuals with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Signs and symptoms of Sturge-Weber syndrome include a large port-wine stain facial birthmark, blood vessel abnormalities in the brain called leptomeningeal angiomas, as well as glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Klippel-Trenaunay syndrome is characterized by a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. You can learn more about Sturge-Weber syndrome on our Web site at the following link: http://rarediseases.info.nih.gov/GARD/Condition/7706/Sturge_Weber_syndrome.aspx You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link: http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome A variety of other symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular cell tumors, and selective IgA deficiency). Conditions associated with PPV can vary greatly from person to person and can be difficult to predict.",GARD,Phacomatosis pigmentovascularis +What causes Phacomatosis pigmentovascularis ?,"What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.",GARD,Phacomatosis pigmentovascularis +How to diagnose Phacomatosis pigmentovascularis ?,How might phacomatosis pigmentovascularis be diagnosed? Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions.,GARD,Phacomatosis pigmentovascularis +What are the treatments for Phacomatosis pigmentovascularis ?,"How might phacomatosis pigmentovascularis be treated? If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus. Medical treatment of PPV with systemic complications requires individualized plans and often assistance from a team of specialists (e.g., opthamologist, neurologist, and vascular specialist).",GARD,Phacomatosis pigmentovascularis +What is (are) Mucoepidermoid carcinoma ?,"Mucoepidermoid carcinoma is a type of cancer of the salivary glands. Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas. Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump). The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing. Treatment often begins with surgery to remove the entire tumor. In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body.",GARD,Mucoepidermoid carcinoma +What is (are) Cerulean cataract ?,"Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.",GARD,Cerulean cataract +What are the symptoms of Cerulean cataract ?,"What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cerulean cataract +What are the treatments for Cerulean cataract ?,"How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.",GARD,Cerulean cataract +What are the symptoms of Fryns Hofkens Fabry syndrome ?,"What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ulnar deviation of finger 90% Autosomal dominant inheritance - Distal ulnar hypoplasia - Dysplastic radii - Hypoplasia of the radius - Mesomelic arm shortening - Radial bowing - Ulnar deviation of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fryns Hofkens Fabry syndrome +What are the symptoms of Microcephaly cervical spine fusion anomalies ?,"What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephaly cervical spine fusion anomalies +What is (are) Multiple mitochondrial dysfunctions syndrome ?,"Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",GARD,Multiple mitochondrial dysfunctions syndrome +What are the symptoms of Multiple mitochondrial dysfunctions syndrome ?,"What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism - Autosomal recessive inheritance - Cerebral atrophy - Congenital onset - Death in infancy - Decreased activity of mitochondrial respiratory chain - Dilated cardiomyopathy - Encephalopathy - Epileptic encephalopathy - Failure to thrive - Feeding difficulties - Hepatomegaly - High palate - Hypoplasia of the corpus callosum - Intrauterine growth retardation - Lactic acidosis - Lethargy - Metabolic acidosis - Microcephaly - Muscle weakness - Polyhydramnios - Polymicrogyria - Pulmonary hypertension - Respiratory failure - Retrognathia - Seizures - Severe muscular hypotonia - Vomiting - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple mitochondrial dysfunctions syndrome +What is (are) Pyridoxine-dependent epilepsy ?,"Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.",GARD,Pyridoxine-dependent epilepsy +What are the symptoms of Pyridoxine-dependent epilepsy ?,"What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Cognitive impairment 90% EEG abnormality 90% Neurological speech impairment 90% Seizures 90% Muscular hypotonia 50% Cerebral cortical atrophy 7.5% Hepatomegaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Delayed speech and language development - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Intellectual disability - Neonatal respiratory distress - Prenatal movement abnormality - Respiratory distress - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyridoxine-dependent epilepsy +What causes Pyridoxine-dependent epilepsy ?,"What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.",GARD,Pyridoxine-dependent epilepsy +What are the treatments for Pyridoxine-dependent epilepsy ?,"How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.",GARD,Pyridoxine-dependent epilepsy +What is (are) Multifocal motor neuropathy ?,"Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Most people treated with intravenous immune globulin (IVIG) have rapid improvement in weakness, but maintenance IVIG is usually required for sustained improvement.",GARD,Multifocal motor neuropathy +What are the symptoms of Multifocal motor neuropathy ?,"What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arms are most commonly affected, but muscles of the lower limbs may also be involved. The symptoms are often asymmetrical, meaning that they differ on the right and left side of the body.",GARD,Multifocal motor neuropathy +What causes Multifocal motor neuropathy ?,"What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.",GARD,Multifocal motor neuropathy +Is Multifocal motor neuropathy inherited ?,"Is multifocal motor neuropathy inherited? We are not aware of any evidence that multifocal motor neuropathy (MMN) is inherited or of any reports of familial cases (occurring in more than one person in a family). Furthermore, to our knowledge, no specific genes known to be associated with MMN have been identified.",GARD,Multifocal motor neuropathy +What are the treatments for Multifocal motor neuropathy ?,"How might multifocal motor neuropathy be treated? Multifocal motor neuropathy (MMN) is considered treatable with intravenous immune globulin (IVIG). Early treatment shortly after symptoms begin is recommended. Most people have a fairly rapid improvement in weakness with IVIG, but the improvement generally does not last beyond a few months. Maintenance IVIG infusions are usually needed every two to six weeks. For those with severe disease whose symptoms don't respond to IVIG (or for those who become resistant), treatment options are limited. Several reports have suggested that cyclophosphamide may be partially effective.",GARD,Multifocal motor neuropathy +What is (are) Postural orthostatic tachycardia syndrome ?,"Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.",GARD,Postural orthostatic tachycardia syndrome +What are the symptoms of Postural orthostatic tachycardia syndrome ?,"What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Other symptoms reported in POTS include: Visual changes (i.e. blurry vision) Throbbing of the head Poor concentration Tiredness Gastrointestinal symptoms (i.e. nausea, cramps, bloating, constipation, diarrhea) Shortness of breath Head, neck and/or chest discomfort Weakness Sleep disorders Exercise intolerance Sweating Anxiety",GARD,Postural orthostatic tachycardia syndrome +What causes Postural orthostatic tachycardia syndrome ?,"What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Many researchers suspect that there may be more than one cause for the condition. The following abnormalities can be associated with POTS and may play a role in the development of the condition: Peripheral denervation - reduced nerve stimulation to certain muscles. The lower extremities are generally most affected in people with POTS. Hypovolemia - an abnormal decrease or redistribution of blood in the body Changes in venous function - more specifically, a reduction in the volume of blood that returns to the heart (venous return) when moving from a lying down to a standing position Cardiovascular deconditioning - changes in cardiovascular function Baroreflex abnormalities - the baroreflexes play an important role in blood pressure regulation. When they sense a change in blood pressure, the heart rate is adjusted and the sympathetic nerve system fibers are activated to cause the blood vessels to narrow. Increased activity of the sympathetic nervous system Although most cases of POTS appear to occur sporadically in people with no family history of the condition, some affected people report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that genetic factors may play a role in the development of POTS in some cases. Some studies also suggest that polymorphisms in certain genes (NOS3, ADRB2) may be associated with an increased risk of developing the condition and a change (mutation) in the norepinephrine transporter gene (SLC6A2) has been identified in one family with POTS.",GARD,Postural orthostatic tachycardia syndrome +Is Postural orthostatic tachycardia syndrome inherited ?,"Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that inherited factors may play a role in the development of POTS in some families.",GARD,Postural orthostatic tachycardia syndrome +How to diagnose Postural orthostatic tachycardia syndrome ?,"How is postural orthostatic tachycardia syndrome diagnosed? A diagnosis of postural orthostatic tachycardia syndrome (POTS) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. Many physicians will conduct a physical examination, including measuring blood pressure and heart rate while lying, sitting, and standing. A tilt table test may also be recommended to help confirm the diagnosis.",GARD,Postural orthostatic tachycardia syndrome +What are the treatments for Postural orthostatic tachycardia syndrome ?,"How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. In some affected people, simple life style interventions such as adding extra salt to the diet, ensuring adequate fluid intake, participating in a specialized exercise program, and avoiding factors that exacerbate the condition appear to improve symptoms. Certain medications have also been used to treat POTS with some success.",GARD,Postural orthostatic tachycardia syndrome +What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondylometaphyseal dysplasia with dentinogenesis imperfecta +What is (are) Lymphocytic infiltrate of Jessner ?,"Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known.",GARD,Lymphocytic infiltrate of Jessner +What are the symptoms of Lymphocytic infiltrate of Jessner ?,"What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lymphocytes 50% Cutaneous photosensitivity 50% Pruritus 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lymphocytic infiltrate of Jessner +What are the treatments for Lymphocytic infiltrate of Jessner ?,"How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, systemic steroids, cryotherapy, methotrexate, thalidomide, and/or oral auranofin. There has been one case report describing treatment with a pulsed-dye laser that worked effectively in this patient after a single treatment without adverse side effects. This and further information on treatment of lymphocytic infiltrate of Jessner is available at the following link to the eMedicine online reference Web site: http://emedicine.medscape.com/article/1098654-treatment",GARD,Lymphocytic infiltrate of Jessner +What is (are) Pontocerebellar hypoplasia type 1 ?,"Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness. Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1. The condition is inherited in an autosomal recessive manner. Most children with PCH1 live only into infancy.",GARD,Pontocerebellar hypoplasia type 1 +What are the symptoms of Pontocerebellar hypoplasia type 1 ?,"What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral cortical atrophy 90% Hypertonia 90% Limitation of joint mobility 90% Microcephaly 90% Seizures 90% Deviation of finger 50% Abnormality of the foot - Ataxia - Autosomal recessive inheritance - Basal ganglia gliosis - Cerebellar hypoplasia - Congenital contracture - Congenital onset - Degeneration of anterior horn cells - EMG: neuropathic changes - Fasciculations - Feeding difficulties in infancy - Hyperreflexia - Hypoplasia of the pons - Hypoplasia of the ventral pons - Intellectual disability - Muscle weakness - Muscular hypotonia - Neuronal loss in basal ganglia - Progressive - Respiratory insufficiency - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pontocerebellar hypoplasia type 1 +What causes Pontocerebellar hypoplasia type 1 ?,"What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1. In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2. TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.",GARD,Pontocerebellar hypoplasia type 1 +Is Pontocerebellar hypoplasia type 1 inherited ?,"How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. This means that parents who are carriers of this condition have a 25% chance of having an affected child.",GARD,Pontocerebellar hypoplasia type 1 +What are the treatments for Pontocerebellar hypoplasia type 1 ?,How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive.,GARD,Pontocerebellar hypoplasia type 1 +What is (are) Limbic encephalitis ?,"Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.",GARD,Limbic encephalitis +What are the symptoms of Limbic encephalitis ?,"What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall. A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures. Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia. The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months. It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis.",GARD,Limbic encephalitis +What causes Limbic encephalitis ?,"What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas. Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis. Seminoma are present in 25% of patients. At a lower rate, nearly any other tumor may be associated. Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders. The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders.",GARD,Limbic encephalitis +What are the treatments for Limbic encephalitis ?,"What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not. If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed. When a tumor is found in association with a possible paraneoplastic disorder, removal of the tumor and immunotherapy may be offered.",GARD,Limbic encephalitis +What is (are) Microcystic adnexal carcinoma ?,"Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well. The average age of diagnosis is 56. This tumor is often first noticed as a bump or yellowish spot in the skin. Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery.",GARD,Microcystic adnexal carcinoma +What are the symptoms of Microcystic adnexal carcinoma ?,"What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can cause discomfort, numbness, tingling (paresthesia), burning, or itching.",GARD,Microcystic adnexal carcinoma +What are the treatments for Microcystic adnexal carcinoma ?,"Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease. There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective. Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done. However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor.",GARD,Microcystic adnexal carcinoma +What is (are) Charcot-Marie-Tooth disease type 1A ?,Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications.,GARD,Charcot-Marie-Tooth disease type 1A +What are the symptoms of Charcot-Marie-Tooth disease type 1A ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. Nerve conduction velocities (NCVs) tend to slow progressively over the first two to six years of life, but they appear to remain relatively stable throughout adulthood. Worsening of signs and symptoms tends to be slow in the second to fourth decades of life. It remains to be confirmed whether, and to what extent, there is clinical and electrophysiological disease progression in affected adults; two studies of adult with CMT1A have shown conflicting results. Authors of one study reported disease progression over time (23 years on average), while authors of another study found that both patients and controls (individuals without the condition) had a similar decline of strength and of electrophysiological findings. The findings in the latter study suggested that the decline in adulthood in affected individuals may reflect a process of normal aging rather than on-going active disease. Any major changes in the pace of progression may warrant consideration of additional acquired, or possibly independently inherited forms, of neuromuscular diseases. The severity of signs and symptoms of CMT1A can vary greatly among affected individuals. Individuals who have questions about their own specific signs and symptoms and how they may relate to progression of CMT should speak with their health care provider. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hearing impairment - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Kyphoscoliosis - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Slow progression - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1A +What is (are) Aicardi-Goutieres syndrome type 5 ?,"Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.",GARD,Aicardi-Goutieres syndrome type 5 +What are the symptoms of Aicardi-Goutieres syndrome type 5 ?,"What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Holoprosencephaly 90% Hypertonia 90% Porencephaly 90% Cleft eyelid 50% Hemiplegia/hemiparesis 50% Microcephaly 7.5% Plagiocephaly 7.5% Ptosis 7.5% Seizures 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Chilblain lesions - Feeding difficulties in infancy - Leukodystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aicardi-Goutieres syndrome type 5 +What is (are) Urea cycle disorders ?,"A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.",GARD,Urea cycle disorders +What is (are) Juvenile ossifying fibroma ?,"Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a ""fibro-osseous neoplasm"" because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. Other symptoms such as exophthalmos or nasal blockage can rarely be associated with the tumor depending on its exact location. In some cases, the condition can be particularly aggressive with rapid growth and significant facial disfigurement. Although the condition can affect people of all ages, it is most commonly diagnosed between the ages of 5 and 15. The exact underlying cause is currently unknown; however, most cases occur sporadically in people with no family history of the condition. JOF is usually treated with surgery. Because the recurrence rate of JOF ranges from 30% to 58%, continued follow-up is essential.",GARD,Juvenile ossifying fibroma +What are the symptoms of Epilepsy occipital calcifications ?,"What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the cerebral vasculature 90% Anemia 90% Cerebral calcification 90% Malabsorption 90% Seizures 90% Visual impairment 90% Cognitive impairment 7.5% Celiac disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Epilepsy occipital calcifications +What is (are) Febrile Ulceronecrotic Mucha-Habermann disease ?,"Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.",GARD,Febrile Ulceronecrotic Mucha-Habermann disease +What are the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease ?,"What are the signs and symptoms of febrile ulceronecrotic Mucha-Habermann disease? Initial symptoms of FUMHD include red scaly skin legions (papules) that ulcerate, breakdown, form open sores, then a red-brown crust (i.e., PLEVA). In FUMHD the legions suddenly progress to large, destructive ulcers and can be associated with extensive, painful loss of skin tissue. The skin lesions can become infected which may cause pus and a putrid odor. The rate of progression from PLEVA to FUMHD varies among reports but may be days to weeks. Some cases go straight to FUMHD rather than progress from PLEVA. FUMHD is often associated with high fever (up to 104F) that may be persistant or come and go. Other symptoms may include feeling ill, sore throat, congestion, muscle soreness or pain, joint pain, diarrhea, central nervous system symptoms, abdominal pain, enlarged spleen, arthritis, megaloblastic anemia, interstitial pneumonitis (scarring or thickening of the lungs), lymphocytic (viral) myocarditis, and sepsis. FUMHD can become life threatening.",GARD,Febrile Ulceronecrotic Mucha-Habermann disease +What causes Febrile Ulceronecrotic Mucha-Habermann disease ?,"What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been no consistent finding so far. There is some suggestion that FUMHD may be a type of clonal T-cell disorder. Clonal means that all the T-cells were derived from the same cell. T cells are a type of white blood cell (lymphocytes). They make up part of the immune system. T cells help the body fight diseases or harmful substances.",GARD,Febrile Ulceronecrotic Mucha-Habermann disease +How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ?,"How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a health care provider: Epidermis - Findings include focal confluent parakeratosis, spongiosis, dyskeratosis, mild to moderate acanthosis, vacuolization of basal layer with necrotic keratino-cytes, occasional intraepidermal vesicles, extensive epidermal necrosis. In advanced disease findings may also include extension of infiltrate into epidermis, invasion of erythrocytes, widespread epidermal necrosis, and nuclear debris in necrotic areas Dermis Swelling, moderately dense lymphohistiocytic perivascular inflammatory infiltrate usually without atypia, extravasation of lymphocytes and erythrocytes with epidermal invasion, subepidermal vesicles in later lesions, dermal sclerosis in older lesions Vascular changes Dilation and engorgement of blood vessels in papillary dermis with endothelial proliferation, vascular congestion, occlusion, dermal hemorrhage, and extravasation of erythrocytes Vasculitis Fibronoid necrosis of vessel walls with leukocytoclassic vasculitis In the majority of patients, blood tests indicate leukocytosis, anemia, elevated C-reactive protein, and elevated liver enzymes. An association of FUMHD with elevated blood levels of TNF-alpha has also been described.",GARD,Febrile Ulceronecrotic Mucha-Habermann disease +What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ?,"How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. The case reports describe treatment with systemic steroids, methotrexate, antibiotics, dapsone, cyclosporine, psoralen and ultraviolet A (PUVA), ultraviolet B (UVB), unspecified ultraviolet receptor, acyclovir, immunoglobulins, and 4,4-diaminodiphenylsulphone (DDS). Again the efficacy of these therapies are not known. Acyclovir was prescribed in cases where varicella was initially suspected. None of these cases turned out to be associated with herpes simplex or varicella-zoster virus infection. The benefit of acyclovir therapy in people with FUMHD is questionable. Systemic steroids have been commonly utilized among reported cases (27 of 40 cases), with only one report of a positive effect. Methotrexate has been used in 15 patients. It induced rapid remissions and was successful in cases that did not respond to other therapies. Still four patients died despite methotrexate theapy. It is possible this was due to its late institution. Debridement and skin grafting was successful in one case, but the patient was left with considerable scaring. In advanced disease, therapy is also aimed at stabilizing the patient. Intensive care treatment of infection and maintenance of the patients general condition is vital. The state of these patients is similar to what is seen in patients with severe burns. Thus, patients with FUMHD may benefit from the same supportive services that burn victims receive. Treatment with tumor necrosis factor (TNF)-alpha inhibitors (such as infliximab and etanercept) has been suggested as a first-line option in the management of FUMHD because elevated levels of serum TNF-alpha have been reported in this disease However, further studies may be required to establish this approach to treatment. More detailed information about treatment options for FUMHD can be accessed through the DermNet NZ web site.",GARD,Febrile Ulceronecrotic Mucha-Habermann disease +What is (are) Chromosome 8q24.3 deletion syndrome ?,"Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 8q24.3 deletion syndrome +What are the symptoms of Chromosome 8q24.3 deletion syndrome ?,"What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa - Autosomal dominant inheritance - Cerebral atrophy - Clinodactyly - Coloboma - Congenital onset - Feeding difficulties - Hemivertebrae - Hip dislocation - Long philtrum - Microcephaly - Narrow forehead - Phenotypic variability - Renal agenesis - Renal cyst - Renal hypoplasia - Scoliosis - Short 5th finger - Short neck - Short nose - Short stature - Vertebral fusion - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 8q24.3 deletion syndrome +What are the symptoms of Dwarfism tall vertebrae ?,"What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - Increased vertebral height - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dwarfism tall vertebrae +What is (are) L-2-hydroxyglutaric aciduria ?,"L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.",GARD,L-2-hydroxyglutaric aciduria +What are the symptoms of L-2-hydroxyglutaric aciduria ?,"What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Encephalitis 90% Seizures 90% Abnormality of extrapyramidal motor function 50% Aplasia/Hypoplasia of the cerebellum 50% Behavioral abnormality 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Neoplasm of the nervous system 50% Neurological speech impairment 7.5% Abnormal pyramidal signs - Autosomal recessive inheritance - Cerebellar atrophy - Corpus callosum atrophy - Developmental regression - Dysphasia - Gliosis - Global brain atrophy - Hearing impairment - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - L-2-hydroxyglutaric acidemia - L-2-hydroxyglutaric aciduria - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Nystagmus - Optic atrophy - Severe demyelination of the white matter - Spastic tetraparesis - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,L-2-hydroxyglutaric aciduria +What is (are) Fatal familial insomnia ?,"Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.",GARD,Fatal familial insomnia +What are the symptoms of Fatal familial insomnia ?,"What are the signs and symptoms of Fatal familial insomnia? The first signs and symptoms of fatal familial insomnia (FFI) generally develop in midlife (40s to 50s) and may include insomnia that worsens over time and vivid dreams when sleep is achieved. As the disease progresses and disturbs the autonomic nervous system (the part of the nervous system that controls involuntary actions), affected people may experience: Elevated blood pressure Episodes of hyperventilation Excessive tearing Sexual and/or urinary tract dysfunction Change in basal body temperature Decreased ability to gaze upwards Jerky eye movements Double vision Dysarthria Many people also develop ataxia (the inability to coordinate movements) which is characterized by a jerky, unsteady, to-and-fro motion of the middle of the body (trunk); an unsteady gait (walking style); and/or uncoordinated movements of the arms and legs. Advancing disease leads to more severe insomnia, worsening ataxia, and confusion. Ultimately, FFI is fatal within a few months to a few years after the development of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Fatal familial insomnia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Apnea - Ataxia - Autosomal dominant inheritance - Childhood onset - Constipation - Dementia - Diplopia - Dysarthria - Dysautonomia - Dysphagia - Fever - Hyperhidrosis - Insomnia - Myoclonus - Neuronal loss in central nervous system - Urinary retention - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fatal familial insomnia +What causes Fatal familial insomnia ?,"What causes fatal familial insomnia? Fatal familial insomnia (FFI) is caused by a specific change (mutation) in the PRNP gene. PRNP encodes the prion protein. Although the exact function of this protein is unknown, scientists suspect that it plays an important role in the brain. Mutations in the PRNP gene result in an abnormal form of the protein that clumps together and accumulates in the brain. This leads to the destruction of neurons (brain cells) and creates tiny holes in the brain, which give the brain a ""sponge-like"" appearance when viewed under a microscope. The progressive loss of neurons leads to the many signs and symptoms of FFI.",GARD,Fatal familial insomnia +Is Fatal familial insomnia inherited ?,"How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,Fatal familial insomnia +How to diagnose Fatal familial insomnia ?,"Is genetic testing available for fatal familial insomnia? Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is fatal familial insomnia diagnosed? A diagnosis of genetic prion disease is typically made based on a combination of the following: Various, adult-onset neurologic signs and symptoms Neuropathologic findings (diagnosis made by examining cells and tissues of the brain under a microscope) A family history consistent with autosomal dominant inheritance PRNP disease-causing mutation The PRNP gene is the only gene in which changes (mutations) are known to cause genetic prion diseases, including fatal familial insomnia. Finding a mutation in this gene is necessary to confirm a diagnosis in a person with symptoms. Testing of the PRNP gene may not detect all disease-causing mutations, so if a mutation is not found, a person may still have the disease. Other studies such as EEG, brain imaging, or examining cerebrospinal fluid may be helpful in supporting a diagnosis, but none of these can diagnose a genetic prion disease on its own.",GARD,Fatal familial insomnia +What are the treatments for Fatal familial insomnia ?,"How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some of which have shown promising results in animal studies.",GARD,Fatal familial insomnia +What is (are) Oculocutaneous albinism ?,"Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.",GARD,Oculocutaneous albinism +What are the symptoms of Oculocutaneous albinism ?,"What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Astigmatism 50% Hypermetropia 50% Myopia 50% Photophobia 50% Strabismus 50% Neoplasm of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Oculocutaneous albinism +What are the treatments for Oculocutaneous albinism ?,"What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. Glasses may be worn to reduce sensitivity to bright light or to improve vision. Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus).",GARD,Oculocutaneous albinism +"What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ?","What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" +What is (are) Northern epilepsy ?,"Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.",GARD,Northern epilepsy +What are the symptoms of Northern epilepsy ?,"What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Northern epilepsy +What is (are) Erythropoietic protoporphyria ?,"Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.",GARD,Erythropoietic protoporphyria +What are the symptoms of Erythropoietic protoporphyria ?,"What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Urticaria 90% Biliary tract abnormality 7.5% Cirrhosis 7.5% Eczema 7.5% Edema 7.5% Microcytic anemia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Cholelithiasis - Erythema - Hemolytic anemia - Hepatic failure - Hypertriglyceridemia - Pruritus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Erythropoietic protoporphyria +What causes Erythropoietic protoporphyria ?,What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene.,GARD,Erythropoietic protoporphyria +Is Erythropoietic protoporphyria inherited ?,"How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% (1 in 4) chance to be unaffected and not be a carrier",GARD,Erythropoietic protoporphyria +"What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?","What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" +What are the symptoms of X-linked lissencephaly with abnormal genitalia ?,"What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked lissencephaly with abnormal genitalia +What are the symptoms of Nijmegen breakage syndrome ?,"What are the signs and symptoms of Nijmegen breakage syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nijmegen breakage syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal immunoglobulin level 90% Abnormal nasal morphology 90% Abnormality of chromosome stability 90% Abnormality of the upper urinary tract 90% Attention deficit hyperactivity disorder 90% Cognitive impairment 90% Convex nasal ridge 90% Decreased body weight 90% Deep philtrum 90% Depressed nasal bridge 90% Hearing abnormality 90% Hemolytic anemia 90% Low anterior hairline 90% Malabsorption 90% Microcephaly 90% Recurrent respiratory infections 90% Short neck 90% Short stature 90% Sinusitis 90% Sloping forehead 90% Thrombocytopenia 90% Upslanted palpebral fissure 90% Urogenital fistula 90% Aplasia/Hypoplasia of the thymus 50% Abnormality of neuronal migration 7.5% Acute leukemia 7.5% Cleft palate 7.5% Cutaneous photosensitivity 7.5% Freckling 7.5% Glioma 7.5% Lymphoma 7.5% Medulloblastoma 7.5% Muscle weakness 7.5% Non-midline cleft lip 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Anal atresia - Anal stenosis - Autoimmune hemolytic anemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Cafe-au-lait spot - Choanal atresia - Cleft upper lip - Diarrhea - Dysgammaglobulinemia - Hydronephrosis - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Long nose - Macrotia - Malar prominence - Mastoiditis - Neurodegeneration - Otitis media - Primary ovarian failure - Progressive vitiligo - Recurrent bronchitis - Recurrent infection of the gastrointestinal tract - Recurrent pneumonia - Recurrent urinary tract infections - Rhabdomyosarcoma - T lymphocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nijmegen breakage syndrome +What is (are) Benign multicystic peritoneal mesothelioma ?,"Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown.",GARD,Benign multicystic peritoneal mesothelioma +What are the treatments for Benign multicystic peritoneal mesothelioma ?,How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign.,GARD,Benign multicystic peritoneal mesothelioma +What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ?,"Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.",GARD,Microcephalic osteodysplastic primordial dwarfism type 2 +What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ?,"What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Micromelia 90% Reduced number of teeth 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the eyebrow 50% Cafe-au-lait spot 50% Dry skin 50% Full cheeks 50% Hypopigmented skin patches 50% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Microdontia 50% Scoliosis 50% Sensorineural hearing impairment 50% Truncal obesity 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Attention deficit hyperactivity disorder 7.5% Blepharophimosis 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Cone-shaped epiphysis 7.5% Ivory epiphyses 7.5% Laryngomalacia 7.5% Long clavicles 7.5% Patent ductus arteriosus 7.5% Precocious puberty 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Straight clavicles 7.5% Thin clavicles 7.5% Tracheal stenosis 7.5% Ventriculomegaly 7.5% Distal symphalangism 5% Hypoplastic scapulae 5% Large sella turcica 5% Limited elbow extension 5% Narrow chest 5% Short middle phalanx of finger 5% Autosomal recessive inheritance - Cerebral aneurysm - Coxa vara - Disproportionate short stature - Flared metaphysis - High pitched voice - Hypermetropia - Hypoplasia of dental enamel - Hypoplastic iliac wing - Hypospadias - Intellectual disability - Microtia - Moyamoya phenomenon - Narrow pelvis bone - Postnatal growth retardation - Prominent nasal bridge - Prominent nose - Proximal femoral epiphysiolysis - Pseudoepiphyses of the metacarpals - Radial bowing - Retrognathia - Short 1st metacarpal - Short distal phalanx of finger - Slender long bone - Sloping forehead - Sparse scalp hair - Tibial bowing - Type II diabetes mellitus - Ulnar bowing - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephalic osteodysplastic primordial dwarfism type 2 +What are the symptoms of Chromosome 6q25 microdeletion syndrome ?,"What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the corpus callosum 50% Epicanthus 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Plagiocephaly 50% Short stature 50% Wide nasal bridge 50% Abnormality of the genital system 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 6q25 microdeletion syndrome +What is (are) Notalgia paresthetica ?,"Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). There are no signs on the skin except for signs of chronic scratching and rubbing. Amyloid deposits (a collection of a specific type of protein) may be found in skin biopsies, but this is thought to be a secondary event. The cause of the itch in notalgia paresthetica may be due to the compression of spinal nerves by bones or muscles as the nerves emerge through the vertebrae to the back muscles. Sometimes degenerative changes in the area of the vertebrae that innervate the affected back muscles can be seen, but not always. Symptoms of notalgia paresthetica may respond to topical capsaicin treatment.",GARD,Notalgia paresthetica +What are the treatments for Notalgia paresthetica ?,"How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed",GARD,Notalgia paresthetica +What are the symptoms of Preaxial polydactyly type 4 ?,"What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Preaxial polydactyly type 4 +What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ?,"What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the ribs 90% Low-set, posteriorly rotated ears 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Vertebral segmentation defect 90% Abnormality of the antitragus 50% Aplasia/Hypoplasia of the tongue 50% Arachnodactyly 50% Choanal atresia 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Joint hypermobility 50% Overfolded helix 50% Polyhydramnios 50% Premature birth 50% Wide nasal bridge 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Imperforate oropharynx-costo vetebral anomalies +What are the symptoms of WT limb blood syndrome ?,"What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Anemia 90% Aplasia/Hypoplasia of the thumb 90% Abnormality of leukocytes 50% Abnormality of the ulna 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Elbow dislocation 50% Lymphoma 50% Thrombocytopenia 50% Abnormality of the wrist 7.5% Brachydactyly syndrome 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Single transverse palmar crease 7.5% Absent thumb - Autosomal dominant inheritance - Hypoplastic anemia - Irregular hyperpigmentation - Joint contracture of the 5th finger - Leukemia - Pancytopenia - Radioulnar synostosis - Retrognathia - Sensorineural hearing impairment - Short phalanx of finger - Short thumb - Ulnar deviation of the 3rd finger - Ulnar deviation of thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,WT limb blood syndrome +What are the symptoms of Mousa Al din Al Nassar syndrome ?,"What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Hypertonia 90% Incoordination 90% Myopia 90% Aplasia/Hypoplasia of the cerebellum 50% Decreased antibody level in blood 50% EMG abnormality 50% Gait disturbance 50% Hemiplegia/hemiparesis 50% Optic atrophy 50% Autosomal recessive inheritance - Congenital cataract - Spastic ataxia - Spinocerebellar tract degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mousa Al din Al Nassar syndrome +What is (are) Enthesitis-related juvenile idiopathic arthritis ?,"Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.",GARD,Enthesitis-related juvenile idiopathic arthritis +What are the symptoms of Enthesitis-related juvenile idiopathic arthritis ?,"What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Abnormality of the teeth 50% Cartilage destruction 50% Enthesitis 50% Abnormal tendon morphology 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Enthesitis-related juvenile idiopathic arthritis +What is (are) Pyruvate kinase deficiency ?,"Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative.",GARD,Pyruvate kinase deficiency +What are the symptoms of Pyruvate kinase deficiency ?,"What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor). In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus. Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intrauterine growth retardation 5% Nonimmune hydrops fetalis 5% Abnormality of the amniotic fluid - Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Chronic hemolytic anemia - Increased red cell osmotic fragility - Jaundice - Reticulocytosis - Splenomegaly - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pyruvate kinase deficiency +What causes Pyruvate kinase deficiency ?,"What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.",GARD,Pyruvate kinase deficiency +Is Pyruvate kinase deficiency inherited ?,"How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21. Although the inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles. It is estimated that approximatly 1 in 100 people carry one copy of a disease-causing mutation in the PKLR gene. Carriers of one non-working PKLR gene usually have moderatly reduced levels of pyruvate kinase activity but do not develop clinical symptoms. It is possible that carriers of a mutant pyruvate kinase genemay have a protective advantage against malaria in areas where the disease is endemic.",GARD,Pyruvate kinase deficiency +How to diagnose Pyruvate kinase deficiency ?,Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options.,GARD,Pyruvate kinase deficiency +What are the treatments for Pyruvate kinase deficiency ?,"How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5. An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/125096-treatment#showall",GARD,Pyruvate kinase deficiency +What are the symptoms of Charcot-Marie-Tooth disease type 1D ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Juvenile onset - Steppage gait - Upper limb muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1D +What are the symptoms of Hyperlipoproteinemia type 4 ?,"What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Atheroeruptive xanthoma - Autosomal dominant inheritance - Heterogeneous - Hypertriglyceridemia - Increased circulating very-low-density lipoprotein cholesterol - Precocious atherosclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperlipoproteinemia type 4 +What is (are) Localized scleroderma ?,"Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling. There are two generally recognized types of localized scleroderma: morphea and linear.",GARD,Localized scleroderma +What are the symptoms of Localized scleroderma ?,"What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area. The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs. Morphea usually affects only the uppermost layers of your skin, but in some cases may involve fatty or connective tissue below your skin. Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from a half-inch to 12 inches in diameter. The condition sometimes appears on areas treated by radiation therapy. Some people have both morphea and linear scleroderma (which is characterized by a single line or band of thickened and/or abnormally colored skin). The disease is referred to as generalized morphea when the skin patches become very hard and dark and spread over larger areas of the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Localized scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Hypopigmented skin patches 90% Skeletal muscle atrophy 50% Camptodactyly of toe 7.5% Lower limb asymmetry 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Localized scleroderma +What causes Localized scleroderma ?,"What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area.",GARD,Localized scleroderma +What are the treatments for Localized scleroderma ?,"How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea involving only the skin who want treatment, treatment may involve UVA1 phototherapy (or else broad band UVA, narrow band UVB, or PUVA), tacrolimus ointment, or steroid shots. Other treatment options include high potency steroid creams, vitamin D analog creams, or imiquimod. If a persons morphea is rapidly progressive, severe, or causing significant disability treatment options may include systemic steroids (glucocorticoids) and methotrexate. People with morphea should be monitored for joint changes and referred for physical and occupational therapy as appropriate.",GARD,Localized scleroderma +What is (are) Infantile-onset ascending hereditary spastic paralysis ?,"Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.",GARD,Infantile-onset ascending hereditary spastic paralysis +What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ?,"What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Feeding difficulties in infancy 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Abnormality of eye movement 50% Pseudobulbar signs 50% Abnormal lower motor neuron morphology - Abnormality of the corticospinal tract - Abnormality of the eye - Abnormality of the face - Achilles tendon contracture - Anarthria - Autosomal recessive inheritance - Babinski sign - Chewing difficulties - Dysarthria - Infantile onset - Motor delay - Muscle weakness - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic paraplegia - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Infantile-onset ascending hereditary spastic paralysis +What is (are) Prader-Willi syndrome ?,"Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.",GARD,Prader-Willi syndrome +What are the symptoms of Prader-Willi syndrome ?,"What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating and obesity. Other signs and symptoms of PWS may include: mild to moderate intellectual disability sleep abnormalities unusually fair skin underdeveloped genitals delayed or incomplete puberty short stature strabismus scoliosis small hands and feet distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth Behavioral problems are common and often include temper tantrums, stubbornness, and obsessive-compulsive tendencies. The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed speech and language development 90% Failure to thrive in infancy 90% Generalized hypotonia 90% Growth hormone deficiency 90% Hypogonadotrophic hypogonadism 90% Infertility 90% Motor delay 90% Narrow palm 90% Obesity 90% Polyphagia 90% Poor suck 90% Short foot 90% Short palm 90% Short stature 90% Specific learning disability 90% Cryptorchidism 85% Attention deficit hyperactivity disorder 75% Scrotal hypoplasia 69% Adrenal insufficiency 60% Primary amenorrhea 56% Abnormality of chromosome segregation 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Almond-shaped palpebral fissure 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Clitoral hypoplasia 50% Cognitive impairment 50% Cutaneous photosensitivity 50% Decreased muscle mass 50% Delayed puberty 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Glomerulopathy 50% Hypoplasia of penis 50% Hypoplasia of the ear cartilage 50% Hypoplastic labia minora 50% Incoordination 50% Intrauterine growth retardation 50% Kyphosis 50% Microcephaly 50% Micropenis 50% Muscular hypotonia 50% Narrow forehead 50% Narrow nasal bridge 50% Nasal speech 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Single transverse palmar crease 50% Sleep apnea 50% Strabismus 50% Telecanthus 50% Type I diabetes mellitus 50% Hypopigmentation of hair 33% Hypopigmentation of the skin 33% Impaired pain sensation 33% Iris hypopigmentation 33% Oligomenorrhea 33% Ventriculomegaly 33% Type II diabetes mellitus 25% Autism 19% Psychosis 15% Hip dysplasia 10% Carious teeth 7.5% Esotropia 7.5% Frontal upsweep of hair 7.5% Myopia 7.5% Osteopenia 7.5% Osteoporosis 7.5% Poor fine motor coordination 7.5% Radial deviation of finger 7.5% Syndactyly 7.5% Temperature instability 7.5% Upslanted palpebral fissure 7.5% Precocious puberty 4% Abdominal obesity - Clinodactyly - Decreased fetal movement - Dolichocephaly - Generalized hypopigmentation - Hyperinsulinemia - Hypermetropia - Hypoventilation - Poor gross motor coordination - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Prader-Willi syndrome +What causes Prader-Willi syndrome ?,"What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or ""expressed"") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed. In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS.",GARD,Prader-Willi syndrome +Is Prader-Willi syndrome inherited ?,"Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. However in rare cases, a genetic change responsible for PWS can be inherited. The risk to family members of a person with PWS depends on the genetic cause of the condition in the affected person. Because the various genetic causes of PWS are complex, people seeking information about specific risks to themselves or family members are encouraged to speak with a genetics professional. More information about the causes of PWS can be viewed on our Web site here.",GARD,Prader-Willi syndrome +How to diagnose Prader-Willi syndrome ?,"How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone.",GARD,Prader-Willi syndrome +What are the treatments for Prader-Willi syndrome ?,"How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of this condition depends on the affected person's age and symptoms. When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, scoliosis, behavioral problems, psychosis, and respiratory problems and sleep issues. In infants, special feeding techniques may be needed. Young children often need early intervention, including physical therapy for muscle strength and reaching physical milestones, and speech therapy for language issues. Cryptorchidism may resolve on its own but usually requires hormonal and/or surgical treatment. When excessive eating begins and weight percentiles increase, affected children should be on a program of a well-balanced diet, exercise, and close supervision with food. A consultation with a dietitian is recommended. Behavioral problems may be addressed with special behavioral management programs. Serotonin uptake inhibitors have helped many affected teenagers and adults, particularly those with obsessive-compulsive symptoms. Growth hormone treatment can normalize height, increase lean body mass, increase mobility, and decrease fat mass. Controlled trials of growth hormone therapies have shown significant benefit from infancy through adulthood. Benefits may include an increase in language and cognitive skills, and better motor performance. Sex hormone replacement helps to produce secondary sex characteristics (those that develop during puberty) but is somewhat controversial due to possible behavior problems in males, risk of stroke, and hygiene concerns related to menstruation in females. Clinical trials investigating potential treatment options for people with PWS are ongoing. ClinicalTrials.gov provides patients, family members, and members of the public with current information on clinical research studies. People interested in participating in clinical trials are encouraged to visit this site to determine if any trials would be helpful. Use each study's contact information to learn more. You can view a list of clinical trials for PWS here. To learn more about how to find and participate in a research study, clinical trial, or patient registry, view our Get Involved in Research page. Additional information on this topic can be found at the links below. Foundation for Prader-Willi Research - Diagnosis & Treatment GeneReviews - Prader-Willi Syndrome Medscape - Prader-Willi Syndrome",GARD,Prader-Willi syndrome +What is (are) Methylcobalamin deficiency cbl G type ?,"Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.",GARD,Methylcobalamin deficiency cbl G type +What are the symptoms of Methylcobalamin deficiency cbl G type ?,"What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blindness 5% Nystagmus 5% Autosomal recessive inheritance - Cerebral atrophy - Decreased methionine synthase activity - Decreased methylcobalamin - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Infantile onset - Intellectual disability - Megaloblastic anemia - Muscular hypotonia - Poor coordination - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Methylcobalamin deficiency cbl G type +What is (are) Malignant peripheral nerve sheath tumor ?,"A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. MPNSTs are quite rare, occurring in 0.001% of the general population. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.",GARD,Malignant peripheral nerve sheath tumor +What are the symptoms of Glomerulopathy with fibronectin deposits 2 ?,"What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Generalized distal tubular acidosis - Microscopic hematuria - Renal cell carcinoma - Slow progression - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glomerulopathy with fibronectin deposits 2 +What are the symptoms of Diffuse cutaneous systemic sclerosis ?,"What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Arthralgia 50% Arthritis 50% Carious teeth 50% Feeding difficulties in infancy 50% Flexion contracture 50% Malabsorption 50% Muscle weakness 50% Osteolysis 50% Pulmonary fibrosis 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Chondrocalcinosis 7.5% Congestive heart failure 7.5% Hypertensive crisis 7.5% Nausea and vomiting 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diffuse cutaneous systemic sclerosis +What are the symptoms of Ichthyosis bullosa of Siemens ?,"What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Acantholysis 90% Edema 90% Palmoplantar keratoderma 90% Thin skin 90% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis bullosa of Siemens +What is (are) Stevens-Johnson syndrome ?,"Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids).",GARD,Stevens-Johnson syndrome +What are the symptoms of Stevens-Johnson syndrome ?,"What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. The condition is characterized by painful, blistery lesions on the skin and the mucous membranes (the thin, moist tissues that line body cavities) of the mouth, throat, genital region, and eyelids. It can also cause serious eye problems, such as severe conjunctivitis; iritis, an inflammation inside the eye; corneal blisters and erosions; and corneal holes. In some cases, the ocular complications from this condition can be disabling and lead to severe vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Stevens-Johnson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of temperature regulation 90% Acantholysis 90% Hypermelanotic macule 90% Malabsorption 90% Nausea and vomiting 90% Weight loss 90% Abnormality of neutrophils 50% Excessive salivation 50% Feeding difficulties in infancy 50% Abdominal pain 7.5% Abnormality of the eyelid 7.5% Abnormality of the myocardium 7.5% Abnormality of the pleura 7.5% Abnormality of the preputium 7.5% Abnormality of the urethra 7.5% Acute hepatic failure 7.5% Anemia 7.5% Corneal erosion 7.5% Coronary artery disease 7.5% Elevated hepatic transaminases 7.5% Gastrointestinal hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Sepsis 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Stevens-Johnson syndrome +What causes Stevens-Johnson syndrome ?,"What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation.",GARD,Stevens-Johnson syndrome +What are the treatments for Stevens-Johnson syndrome ?,"How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144]",GARD,Stevens-Johnson syndrome +What are the symptoms of ITCH E3 ubiquitin ligase deficiency ?,"What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,ITCH E3 ubiquitin ligase deficiency +What is (are) Denys-Drash syndrome ?,"Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GARD,Denys-Drash syndrome +What are the symptoms of Denys-Drash syndrome ?,"What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Male pseudohermaphroditism 90% Nephroblastoma (Wilms tumor) 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Hypertension 50% Gonadal dysgenesis 7.5% Ambiguous genitalia, female - Ambiguous genitalia, male - Autosomal dominant inheritance - Congenital diaphragmatic hernia - Diffuse mesangial sclerosis - Focal segmental glomerulosclerosis - Gonadal tissue inappropriate for external genitalia or chromosomal sex - Ovarian gonadoblastoma - Somatic mutation - Stage 5 chronic kidney disease - True hermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Denys-Drash syndrome +What causes Denys-Drash syndrome ?,"What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals.",GARD,Denys-Drash syndrome +Is Denys-Drash syndrome inherited ?,"Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GARD,Denys-Drash syndrome +"What are the symptoms of Total Hypotrichosis, Mari type ?","What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Total Hypotrichosis, Mari type" +What are the symptoms of Ulna hypoplasia with mental retardation ?,"What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Cognitive impairment 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Muscular hypotonia 90% Short stature 90% Talipes 90% Ulnar deviation of finger 90% Abnormality of thumb phalanx 50% Preaxial foot polydactyly 50% Absent fingernail - Absent toenail - Autosomal recessive inheritance - Bilateral ulnar hypoplasia - Intellectual disability, profound - Limitation of knee mobility - Limited elbow movement - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ulna hypoplasia with mental retardation +What are the symptoms of Dermoids of cornea ?,"What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of the pupil 50% Abnormality of the eye - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dermoids of cornea +"What are the symptoms of Acrocallosal syndrome, Schinzel type ?","What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 100% Cognitive impairment 90% Duplication of phalanx of hallux 90% Duplication of thumb phalanx 90% Hypertelorism 90% Macrocephaly 90% Postaxial foot polydactyly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Failure to thrive 75% Growth delay 75% Broad forehead 50% Dandy-Walker malformation 50% Epicanthus 50% Preauricular skin tag 50% Prominent occiput 50% Short nose 50% Sloping forehead 50% Triphalangeal thumb 50% Wide anterior fontanel 50% Finger syndactyly 33% Inguinal hernia 33% Toe syndactyly 33% Umbilical hernia 33% High palate 31% Short philtrum 31% Cleft palate 21% Cleft upper lip 21% Open mouth 16% Microretrognathia 14% Long philtrum 9% Thin vermilion border 9% Abnormality of the clavicle 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hernia of the abdominal wall 7.5% Micropenis 7.5% Nystagmus 7.5% Posteriorly rotated ears 7.5% Sensorineural hearing impairment 7.5% Strabismus 7.5% Tall stature 7.5% Tapered finger 7.5% Coloboma 5% Optic atrophy 5% Hypoplasia of teeth 2% Smooth philtrum 2% Macrocephaly 25/27 Hypertelorism 24/26 Wide nasal bridge 24/26 Intellectual disability 23/25 Frontal bossing 23/26 Generalized hypotonia 20/23 Abnormality of the pinna 19/23 Hypospadias 10/18 Intracranial cystic lesion 10/27 Seizures 9/27 Abnormality of cardiovascular system morphology 5/22 Abnormality of the cardiac septa - Agenesis of corpus callosum - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Brachydactyly syndrome - Clinodactyly of the 5th finger - Heterogeneous - Hypopigmentation of the fundus - Intellectual disability, severe - Phenotypic variability - Postnatal growth retardation - Prominent forehead - Pulmonary valve defects - Rectovaginal fistula - Triangular mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Acrocallosal syndrome, Schinzel type" +"What is (are) Early-onset, autosomal dominant Alzheimer disease ?","Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by changes (mutations) one of three different genes: APP, PSEN1, and PSEN2. The condition is inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,"Early-onset, autosomal dominant Alzheimer disease" +"Is Early-onset, autosomal dominant Alzheimer disease inherited ?","How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.",GARD,"Early-onset, autosomal dominant Alzheimer disease" +"What are the symptoms of Pachygyria, frontotemporal ?","What are the signs and symptoms of Pachygyria, frontotemporal? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria, frontotemporal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Esotropia - Hypertelorism - Intellectual disability, moderate - Pachygyria - Seizures - Telecanthus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Pachygyria, frontotemporal" +What is (are) Muscle eye brain disease ?,"Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.",GARD,Muscle eye brain disease +What are the symptoms of Muscle eye brain disease ?,"What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Muscle eye brain disease +What causes Muscle eye brain disease ?,"What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein. The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan.",GARD,Muscle eye brain disease +What is (are) Uncombable hair syndrome ?,Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.,GARD,Uncombable hair syndrome +What are the symptoms of Uncombable hair syndrome ?,"What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat. In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7.5% Autosomal dominant inheritance - Pili canaliculi - Uncombable hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Uncombable hair syndrome +What causes Uncombable hair syndrome ?,"What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.",GARD,Uncombable hair syndrome +Is Uncombable hair syndrome inherited ?,"Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to ""skip a generation"" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.",GARD,Uncombable hair syndrome +How to diagnose Uncombable hair syndrome ?,"How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition.",GARD,Uncombable hair syndrome +What are the treatments for Uncombable hair syndrome ?,"How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective. Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.",GARD,Uncombable hair syndrome +What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ?,"What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Diabetes mellitus - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperinsulinemic hypoglycemia familial 3 +"What is (are) Craniometaphyseal dysplasia, autosomal recessive type ?","Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities.",GARD,"Craniometaphyseal dysplasia, autosomal recessive type" +"What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ?","What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal recessive type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of the nasopharynx - Abnormality of the thorax - Autosomal recessive inheritance - Bony paranasal bossing - Broad alveolar ridges - Club-shaped distal femur - Coarse facial features - Delayed eruption of permanent teeth - Facial hyperostosis - Flared metaphysis - Macrocephaly - Mandibular prognathia - Metaphyseal dysplasia - Mixed hearing impairment - Nasal obstruction - Optic atrophy - Patchy sclerosis of finger phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Craniometaphyseal dysplasia, autosomal recessive type" +"What causes Craniometaphyseal dysplasia, autosomal recessive type ?","What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined.",GARD,"Craniometaphyseal dysplasia, autosomal recessive type" +"What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ?","How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.",GARD,"Craniometaphyseal dysplasia, autosomal recessive type" +What are the symptoms of Lassueur-Graham-Little syndrome ?,"What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Hyperkeratosis 90% Lichenification 50% Pruritus 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lassueur-Graham-Little syndrome +What is (are) Dihydrolipoamide dehydrogenase deficiency ?,"Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.",GARD,Dihydrolipoamide dehydrogenase deficiency +What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ?,"What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidosis. Lactic acidosis can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Symptoms typically occur in episodes that may be triggered by illness, injury, or other stresses on the body. Affected infants often do not survive their initial episode or may die within the first few years of life during a recurrent episode. Children who live beyond the first two to three years often have growth delays and neurological problems such as intellectual disability, spasticity, ataxia, and seizures. However, normal intellect has been reported in a few people with the early-onset form of DLD deficiency. Isolated liver involvement, which can range from hepatomegaly (enlarged liver) to life-threatening liver failure, can also occur in the newborn period, or as late as the 3rd decade of life. A few people with DLD deficiency have become affected later in childhood with ataxia and dystonia, with normal cognitive development. Rarely, affected people have muscle weakness (particularly during exercise) or a weakened heart muscle (cardiomyopathy). The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydrolipoamide dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 50% Gait disturbance 50% Hepatomegaly 50% Microcephaly 50% Muscular hypotonia 50% Hepatic failure 7.5% Hypoglycemia 7.5% Decreased liver function 5% Elevated hepatic transaminases 5% Ataxia - Autosomal recessive inheritance - Dystonia - Encephalopathy - Feeding difficulties - Hypertrophic cardiomyopathy - Lactic acidosis - Lethargy - Metabolic acidosis - Seizures - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dihydrolipoamide dehydrogenase deficiency +What causes Dihydrolipoamide dehydrogenase deficiency ?,"What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work together (enzyme complexes). These enzyme complexes are involved in breaking down amino acids commonly found in protein-rich foods, and in other reactions that help to convert energy from food into a form that our cells can use. Mutations in the DLD gene impair the function of DLD, preventing the 3 enzyme complexes from functioning properly. This causes a build-up of molecules that are normally broken down, which in turn leads to tissue damage, lactic acidosis and other chemical imbalances. The brain is especially sensitive to the buildup of molecules and lack of cellular energy, which is why there are neurological problems associated with DLD deficiency.",GARD,Dihydrolipoamide dehydrogenase deficiency +Is Dihydrolipoamide dehydrogenase deficiency inherited ?,"How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% to be unaffected and not be a carrier.",GARD,Dihydrolipoamide dehydrogenase deficiency +What are the treatments for Dihydrolipoamide dehydrogenase deficiency ?,"How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has. Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances. There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications. More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.",GARD,Dihydrolipoamide dehydrogenase deficiency +"What are the symptoms of Prosopagnosia, hereditary ?","What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Prosopagnosia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Prosopagnosia, hereditary" +What are the symptoms of Retinal cone dystrophy 3A ?,"What are the signs and symptoms of Retinal cone dystrophy 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Dyschromatopsia - Nyctalopia - Photophobia - Progressive cone degeneration - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Retinal cone dystrophy 3A +What are the symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia ?,"What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral cortical atrophy 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Congenital onset - Extrapyramidal dyskinesia - Gliosis - Hypoplasia of the pons - Impaired smooth pursuit - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microcephaly pontocerebellar hypoplasia dyskinesia +What is (are) Kuskokwim disease ?,"Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner.",GARD,Kuskokwim disease +What are the symptoms of Kuskokwim disease ?,"What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. However, not all individuals with the condition have contractures at birth. The severity of contractures can be very asymmetrical in any given individual. The knees and elbows are often affected, and skeletal abnormalities of the spine, pelvis, and feet also commonly occur. Muscle atrophy of limbs with contractures and displacement of kneecaps (patellae) have also been reported. Milder skeletal features are common. Vertebral features may include spondylolisthesis, mild to moderate scoliosis, and/or lordosis. Many affected individuals have had several low-energy fractures. Other skeletal abnormalities that have been reported include bunions (hallux valgus), ""flat feet"" (plano valgus feet), and clubfoot (talipes equinovarus). Development and arrangement of the teeth (dentition) are normal. Although some individuals with full bilateral contractures of the knees can move about by duck walking (sitting with buttocks on their heels) or by knee walking (moving on their knees with their lower legs drawn up behind them to their buttocks), most affected individuals are treated with leg braces and/or surgery in childhood and can walk upright. The Human Phenotype Ontology provides the following list of signs and symptoms for Kuskokwim disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kuskokwim disease +What are the treatments for Kuskokwim disease ?,"How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care. Many individuals with Kuskokwim disease are treated with leg braces and/or surgery and eventually are able to walk upright.",GARD,Kuskokwim disease +What are the symptoms of Sjogren-Larsson-like syndrome ?,"What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Sjogren-Larsson-like syndrome +"What are the symptoms of Dystonia 6, torsion ?","What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incomplete penetrance 60% Myoclonus 5% Abnormality of the head - Autosomal dominant inheritance - Dysarthria - Laryngeal dystonia - Limb dystonia - Oromandibular dystonia - Torsion dystonia - Torticollis - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Dystonia 6, torsion" +What is (are) Hyperparathyroidism-jaw tumor syndrome ?,"Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion.",GARD,Hyperparathyroidism-jaw tumor syndrome +What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ?,"What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperparathyroidism-jaw tumor syndrome +What is (are) Loin pain hematuria syndrome ?,"Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently unknown; however, scientists suspect that it may be due to abnormalities of the glomerular basement membranes (the tissues in the kidney that filter blood); bleeding disorders; or crystal and/or stone formation in the kidneys. Treatment is symptomatic and usually consists of pain management.",GARD,Loin pain hematuria syndrome +What are the symptoms of Loin pain hematuria syndrome ?,"What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position. Although some may only experience pain on one side initially, most people with LPHS will eventually develop bilateral (on both sides) loin pain. During episodes of pain, affected people may also experience nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria.",GARD,Loin pain hematuria syndrome +What causes Loin pain hematuria syndrome ?,"What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine).",GARD,Loin pain hematuria syndrome +How to diagnose Loin pain hematuria syndrome ?,"How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria. In some cases, a kidney biopsy may also be recommended to evaluate the structure and function of the kidney.",GARD,Loin pain hematuria syndrome +What are the treatments for Loin pain hematuria syndrome ?,"How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and severe hematuria. People with debilitating pain who do not respond to other therapies may be offered surgery (i.e. a nerve block, nephrectomy, kidney auto-transplantation); however, surgical treatment of LPHS is controversial as studies suggest that it has limited value for treating recurrent pain.",GARD,Loin pain hematuria syndrome +What are the symptoms of Cataract congenital Volkmann type ?,"What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract congenital Volkmann type +What are the symptoms of Schimke X-linked mental retardation syndrome ?,"What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Choreoathetosis - External ophthalmoplegia - Growth delay - Hearing impairment - Intellectual disability - Postnatal microcephaly - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Schimke X-linked mental retardation syndrome +What is (are) Primary Familial Brain Calcification ?,"Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.",GARD,Primary Familial Brain Calcification +What are the symptoms of Primary Familial Brain Calcification ?,"What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary Familial Brain Calcification +What causes Primary Familial Brain Calcification ?,"What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.",GARD,Primary Familial Brain Calcification +How to diagnose Primary Familial Brain Calcification ?,"How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon: 1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging, 2) presence of progressive neurological dysfunction, 3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition). Molecular genetic testing can help confirm the diagnosis. Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known? Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered. Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.",GARD,Primary Familial Brain Calcification +What are the treatments for Primary Familial Brain Calcification ?,"How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.",GARD,Primary Familial Brain Calcification +What is (are) Fibromuscular dysplasia ?,"Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowing and enlarging of arteries can block or reduce blood flow to the brain, causing a stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in people age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. Treatment is based on the arteries affected and the progression and severity of the disease.",GARD,Fibromuscular dysplasia +What are the symptoms of Fibromuscular dysplasia ?,"What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic dissection - Arterial fibromuscular dysplasia - Autosomal dominant inheritance - Intermittent claudication - Myocardial infarction - Renovascular hypertension - Stroke - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Fibromuscular dysplasia +What causes Fibromuscular dysplasia ?,"What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of affected individuals have more than one artery with fibromuscular dysplasia. It is not known why some people develop this condition in more than one artery.",GARD,Fibromuscular dysplasia +What is (are) Juvenile dermatomyositis ?,"Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.",GARD,Juvenile dermatomyositis +What are the symptoms of Juvenile dermatomyositis ?,"What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% Chondrocalcinosis 90% Dry skin 90% Mucosal telangiectasiae 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Skin rash 90% Telangiectasia of the skin 90% Abnormality of temperature regulation 50% Alopecia 50% Arthralgia 50% Arthritis 50% Constipation 50% Cutaneous photosensitivity 50% Flexion contracture 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Restrictive lung disease 50% Skin ulcer 50% Vasculitis 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Arrhythmia 7.5% Coronary artery disease 7.5% EMG abnormality 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Hypertrophic cardiomyopathy 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Pulmonary fibrosis 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Autosomal dominant inheritance - Myositis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Juvenile dermatomyositis +What is (are) Trigeminal Trophic Syndrome ?,"Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.",GARD,Trigeminal Trophic Syndrome +What is (are) Pigmented purpuric eruption ?,"Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown.",GARD,Pigmented purpuric eruption +What are the symptoms of Pigmented purpuric eruption ?,"What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown and then slowly fade away, over weeks to months. There have been no systemic symptoms reported with pigmented purpuric eruption. The Human Phenotype Ontology provides the following list of signs and symptoms for Pigmented purpuric eruption. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Neonatal onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pigmented purpuric eruption +What causes Pigmented purpuric eruption ?,"What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component.",GARD,Pigmented purpuric eruption +What are the treatments for Pigmented purpuric eruption ?,"What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA).",GARD,Pigmented purpuric eruption +What is (are) Goldenhar disease ?,"Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown.",GARD,Goldenhar disease +What are the symptoms of Goldenhar disease ?,"What are the signs and symptoms of Goldenhar disease? The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Affected individuals may have a variety of other signs and symptoms involving the ears, eyes, and spine as well as the face, heart, lungs, and central nervous system. The severity of these features can vary greatly among individuals with Goldenhar disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Goldenhar disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial asymmetry 90% Hearing impairment 90% Preauricular skin tag 90% Abnormal form of the vertebral bodies 50% Abnormality of the inner ear 50% Abnormality of the middle ear 50% Atresia of the external auditory canal 50% Cleft palate 50% Epibulbar dermoid 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Non-midline cleft lip 50% Abnormal localization of kidney 7.5% Abnormality of the pharynx 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the lungs 7.5% Aplasia/Hypoplasia of the thumb 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cleft eyelid 7.5% Cognitive impairment 7.5% Laryngomalacia 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short stature 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Tracheomalacia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Anophthalmia - Anotia - Arnold-Chiari malformation - Autosomal dominant inheritance - Blepharophimosis - Block vertebrae - Branchial anomaly - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Ectopic kidney - Hemivertebrae - Hydrocephalus - Hypoplasia of facial musculature - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microphthalmia - Microtia - Multicystic kidney dysplasia - Occipital encephalocele - Patent ductus arteriosus - Pulmonary hypoplasia - Renal agenesis - Sensorineural hearing impairment - Strabismus - Unilateral external ear deformity - Upper eyelid coloboma - Ureteropelvic junction obstruction - Vertebral hypoplasia - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Goldenhar disease +"What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?","Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown.",GARD,"Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" +"What are the symptoms of Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?","What are the symptoms of polymicrogyria? A wide variety of symptoms may be observed in people with polymicrogyria, including: Cognitive deficits Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech Drooling",GARD,"Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" +"What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?","What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely.",GARD,"Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" +What are the symptoms of Kallmann syndrome 5 ?,"What are the signs and symptoms of Kallmann syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia 30% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Kallmann syndrome 5 +What is (are) Lesch Nyhan syndrome ?,"Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.",GARD,Lesch Nyhan syndrome +What are the symptoms of Lesch Nyhan syndrome ?,"What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Arthritis 90% Behavioral abnormality 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Hyperuricemia 90% Anemia 50% Hematuria 50% Renal insufficiency 50% Abnormality of extrapyramidal motor function - Choreoathetosis - Dysarthria - Dysphagia - Dystonia - Gout (feet) - Hyperreflexia - Hyperuricosuria - Intellectual disability - Megaloblastic anemia - Motor delay - Muscular hypotonia - Nephrolithiasis - Opisthotonus - Short stature - Spasticity - Testicular atrophy - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lesch Nyhan syndrome +Is Lesch Nyhan syndrome inherited ?,"How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. Females who have one mutated copy of the responsible gene (on one of their X chromosomes) usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition (they are affected) because they do not have another X chromosome with a working copy of the gene. This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. This means that with each pregnancy, a female who is a carrier has a: 50% (1 in 2) chance of having an unaffected son or daughter 25% (1 in 4) chance of having an affected son 25% chance of having a carrier daughter",GARD,Lesch Nyhan syndrome +What are the symptoms of Hamanishi Ueba Tsuji syndrome ?,"What are the signs and symptoms of Hamanishi Ueba Tsuji syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hamanishi Ueba Tsuji syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 90% Decreased nerve conduction velocity 90% Impaired pain sensation 90% Skeletal muscle atrophy 90% Hypohidrosis 50% Abnormality of the musculature - Autosomal recessive inheritance - Polyneuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hamanishi Ueba Tsuji syndrome +What are the symptoms of Neurofibromatosis-Noonan syndrome ?,"What are the signs and symptoms of Neurofibromatosis-Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cafe-au-lait spot 90% Cognitive impairment 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Low-set, posteriorly rotated ears 90% Ptosis 90% Short stature 90% Webbed neck 90% Abnormality of coagulation 50% Abnormality of the lymphatic system 50% Abnormality of the thorax 50% Cryptorchidism 50% Feeding difficulties in infancy 50% Lisch nodules 5% Autosomal dominant inheritance - Axillary freckling - Cubitus valgus - Delayed speech and language development - Depressed nasal bridge - Epicanthus - Hypoplasia of midface - Inguinal freckling - Low posterior hairline - Low-set ears - Macrocephaly - Malar flattening - Muscle weakness - Neurofibromas - Optic glioma - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Prominent nasolabial fold - Pulmonic stenosis - Scoliosis - Secundum atrial septal defect - Short neck - Specific learning disability - Superior pectus carinatum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Neurofibromatosis-Noonan syndrome +What is (are) Congenital hypothyroidism ?,"Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.",GARD,Congenital hypothyroidism +What are the symptoms of Congenital hypothyroidism ?,"What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Constipation 90% Hypothyroidism 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Coarse facial features 50% Cognitive impairment 50% Depressed nasal ridge 50% Dry skin 50% Hypothermia 50% Short stature 50% Sinusitis 50% Thickened skin 50% Abnormality of epiphysis morphology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the pericardium 7.5% Anterior hypopituitarism 7.5% Arrhythmia 7.5% Cataract 7.5% Goiter 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypotension 7.5% Intestinal obstruction 7.5% Nephrolithiasis 7.5% Optic atrophy 7.5% Oral cleft 7.5% Paresthesia 7.5% Tracheoesophageal fistula 7.5% Autosomal recessive inheritance - Congenital hypothyroidism - Infantile onset - Thyroid hypoplasia - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Congenital hypothyroidism +What are the symptoms of 18 Hydroxylase deficiency ?,"What are the signs and symptoms of 18 Hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 18 Hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased circulating aldosterone level - Dehydration - Episodic fever - Failure to thrive - Feeding difficulties in infancy - Growth delay - Hyperkalemia - Hyponatremia - Hypotension - Increased circulating renin level - Neonatal onset - Renal salt wasting - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,18 Hydroxylase deficiency +What are the symptoms of Testicular cancer ?,"What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Testicular cancer +What are the symptoms of Poikiloderma with neutropenia ?,"What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertelorism 5% Hypoplasia of midface 5% Malar flattening 5% Autosomal recessive inheritance - Blepharitis - Conjunctivitis - Neutropenia - Poikiloderma - Recurrent otitis media - Recurrent pneumonia - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Poikiloderma with neutropenia +What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ?,"What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal - Autosomal recessive inheritance - Bilateral talipes equinovarus - Lethal skeletal dysplasia - Limb undergrowth - Macrocephaly - Mesomelia - Opacification of the corneal stroma - Platyspondyly - Shortening of all metacarpals - Shortening of all phalanges of fingers - Wide anterior fontanel - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lethal short limb skeletal dysplasia Al Gazali type +What is (are) KBG syndrome ?,"KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically.",GARD,KBG syndrome +What are the symptoms of KBG syndrome ?,"What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features of the head and face may include a wide, short skull (brachycephaly); triangular face shape; widely spaced eyes (hypertelorism); wide eyebrows that may connect (synophrys); prominent nasal bridge; a long space between the nose and upper lip; and a thin upper lip. In addition to macrodontia, affected people may have jagged or misaligned teeth and/or other abnormalities of the bones or sockets of the jaw. Skeletal abnormalities most often affect the limbs, spine, and/or ribs. Affected people often have delayed bone age. Other signs and symptoms that have been less commonly reported include seizures; syndactyly; a webbed, short neck; undescended testes (cryptorchidism); hearing loss; defects of the palate (roof of the mouth); strabismus; and congenital heart defects. The Human Phenotype Ontology provides the following list of signs and symptoms for KBG syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of calvarial morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Delayed skeletal maturation 90% Macrodontia 90% Round face 90% Short stature 90% Telecanthus 90% EEG abnormality 50% Finger syndactyly 50% Hypertelorism 50% Low posterior hairline 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Reduced number of teeth 50% Short neck 50% Single transverse palmar crease 50% Strabismus 50% Abnormality of dental enamel 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Hearing impairment 7.5% Pointed chin 7.5% Postaxial hand polydactyly 7.5% Anteverted nares - Autosomal dominant inheritance - Cervical ribs - Clinodactyly - Intellectual disability - Long palpebral fissure - Long philtrum - Low anterior hairline - Macrotia - Microcephaly - Oligodontia - Radial deviation of finger - Rib fusion - Syndactyly - Thick eyebrow - Thoracic kyphosis - Triangular face - Underdeveloped nasal alae - Vertebral fusion - Widely-spaced maxillary central incisors - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,KBG syndrome +What are the symptoms of Bifid nose with or without anorectal and renal anomalies ?,"What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney - Anteriorly placed anus - Autosomal recessive inheritance - Bifid nose - Bulbous nose - Rectovaginal fistula - Short philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bifid nose with or without anorectal and renal anomalies +What are the symptoms of Larsen-like syndrome ?,"What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Joint dislocation 90% Muscular hypotonia 90% Respiratory insufficiency 90% Short stature 90% Tracheal stenosis 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the lungs 50% Cleft palate 50% Frontal bossing 50% Hypertelorism 50% Kyphosis 50% Malar flattening 50% Micromelia 50% Narrow chest 50% Narrow mouth 50% Postaxial hand polydactyly 50% Single transverse palmar crease 50% Spina bifida occulta 50% Tarsal synostosis 50% Thickened nuchal skin fold 50% Abnormal cartilage matrix - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Laryngomalacia - Multiple joint dislocation - Neonatal death - Pulmonary hypoplasia - Pulmonary insufficiency - Tracheomalacia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Larsen-like syndrome +What is (are) Chromosome 15q deletion ?,"Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 15q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 15q deletion +What is (are) Reynolds syndrome ?,"Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. Although generally considered an autoimmune disorder, other causes have been suggested, including genetics. Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion.",GARD,Reynolds syndrome +What are the symptoms of Reynolds syndrome ?,"What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Hepatomegaly 90% Myalgia 90% Pruritus 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Arthritis 50% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Irregular hyperpigmentation 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Mucosal telangiectasiae 50% Skin rash 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Ascites 7.5% Cirrhosis 7.5% Encephalitis 7.5% Lichenification 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Biliary cirrhosis - Calcinosis - Elevated alkaline phosphatase - Elevated hepatic transaminases - Gastrointestinal hemorrhage - Hyperbilirubinemia - Jaundice - Lip telangiectasia - Palmar telangiectasia - Sclerodactyly - Splenomegaly - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Reynolds syndrome +What is (are) Pineal cyst ?,"Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pineal cysts do not have any signs or symptoms. Rarely, a pineal cyst may cause headaches, hydrocephalus, eye movement abnormalities, and Parinaud syndrome. Treatment is usually only considered when a cyst is causing symptoms, in which case surgery, stereotactic aspiration or endoscopic treatment may be recommended.",GARD,Pineal cyst +What are the symptoms of Pineal cyst ?,"What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare, people with symptomatic pineal cysts may have other symptoms such as difficulty moving (ataxia); mental and emotional disturbances; seizures; sleep (circadian rhythm) troubles; hormonal imbalances that may cause precocious puberty; or secondary parkinsonism.",GARD,Pineal cyst +What causes Pineal cyst ?,"What causes pineal cysts? The exact cause of pineal cysts is unknown. However, some studies suggest that bleeding in the pineal region or hormonal influences may play a role in the development and progression of pineal cysts.",GARD,Pineal cyst +What are the treatments for Pineal cyst ?,"How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. However, they may need to have regular check-ups with a physician and follow up imaging if they have a large cyst (greater than 10-14 mm) or develop symptoms that could be related to the cyst. Treatment is often recommended for those individuals with pineal cysts that cause hydrocephalus; neurological symptoms such as headache or disturbance of vision; or enlargement of the cyst over time. Treatment may include surgery to remove the cyst, sometimes followed by the placement of a ventriculoperitoneal shunt. Aspiration of the contents of the cyst using ultrasound guidance has been explored as an alternative approach to surgery, and more recently, endoscopic procedures have been used. Radiation therapy may be recommended for cysts that recur after treatment. What is the appropriate follow-up for a pineal cyst found incidentally on MRI? There is limited information about what happens to a pineal cyst over time. Several studies have shown that most pineal cysts remain stable and do not increase in size or cause symptoms later in life. One study found that larger cysts were more likely to decrease in size over time, and there is currently no evidence that larger cysts are more likely to cause symptoms. Because guidelines for management depend on an understanding of the typical course of a condition, and currently there is limited information about pineal cysts, there is some debate about the most appropriate way to manage these cysts. Some studies do not recommend repeated magnetic resonance imaging (MRI) of the cyst. Other studies state that repeated imaging of a pineal cyst is not required. Another approach is for individuals with a pineal cyst to have regular check-ups with their personal doctor; if at any point new symptoms arise that may be related to the pineal cyst, repeat imaging should be done.",GARD,Pineal cyst +"What are the symptoms of Arthrogryposis, distal, type 2E ?","What are the signs and symptoms of Arthrogryposis, distal, type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent antihelix - Autosomal dominant inheritance - Distal arthrogryposis - Joint contracture of the hand - Joint contractures involving the joints of the feet - Microcephaly - Mild microcephaly - Narrow mouth - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Arthrogryposis, distal, type 2E" +What is (are) Lupus ?,"Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. Studies suggest that a number of different genes may be involved in determining a persons likelihood of developing the disease, which tissues and organs are affected, and the severity of disease. The treatment of lupus depends on the severity of the condition and what parts of the body are affected. Treatment may include acetaminophen, ibuprofen, antimalarial drugs, anti-inflammatory steroids, and/or immunosuppressive drugs.",GARD,Lupus +What are the symptoms of Lupus ?,"What are the signs and symptoms of Lupus? You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Human Phenotype Ontology provides the following list of signs and symptoms for Lupus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of temperature regulation 90% Abnormality of the heart valves 90% Abnormality of the pericardium 90% Alopecia 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Chest pain 90% Cutaneous photosensitivity 90% Skin rash 90% Thrombocytopenia 90% Thrombophlebitis 90% Abnormal pyramidal signs 50% Abnormal tendon morphology 50% Abnormality of the autonomic nervous system 50% Abnormality of the endocardium 50% Abnormality of the pleura 50% Anorexia 50% Arterial thrombosis 50% Aseptic leukocyturia 50% Bone marrow hypocellularity 50% Conjunctival telangiectasia 50% Cranial nerve paralysis 50% Cutis marmorata 50% Dry skin 50% Eczema 50% Edema of the lower limbs 50% Glomerulopathy 50% Hallucinations 50% Hematuria 50% Hepatomegaly 50% Hyperkeratosis 50% Hypoproteinemia 50% Increased antibody level in blood 50% Increased intracranial pressure 50% Lymphadenopathy 50% Lymphopenia 50% Meningitis 50% Myalgia 50% Normocytic anemia 50% Recurrent respiratory infections 50% Renal insufficiency 50% Sleep disturbance 50% Splenomegaly 50% Weight loss 50% Xerostomia 50% Abnormal blistering of the skin 7.5% Abnormality of eosinophils 7.5% Abnormality of the myocardium 7.5% Ascites 7.5% Aseptic necrosis 7.5% Cellulitis 7.5% Cerebral ischemia 7.5% Cerebral palsy 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal infarctions 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammation of the large intestine 7.5% Memory impairment 7.5% Myositis 7.5% Nausea and vomiting 7.5% Pancreatitis 7.5% Peripheral neuropathy 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Seizures 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Telangiectasia of the skin 7.5% Urticaria 7.5% Vasculitis 7.5% Verrucae 7.5% Antinuclear antibody positivity - Antiphospholipid antibody positivity - Autosomal dominant inheritance - Hemolytic anemia - Leukopenia - Nephritis - Pericarditis - Pleuritis - Psychosis - Systemic lupus erythematosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lupus +Is Lupus inherited ?,"Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professionals but can be useful to anyone looking for detailed information. You may have to register to view the article, but registration is free.",GARD,Lupus +What are the treatments for Lupus ?,"How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus.",GARD,Lupus +What are the symptoms of Otofaciocervical syndrome ?,"What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of periauricular region 90% Abnormality of the clavicle 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Conductive hearing impairment 90% Depressed nasal bridge 90% Full cheeks 90% Hyperreflexia 90% Hypertonia 90% Macrotia 90% Neurological speech impairment 90% Short stature 90% Sprengel anomaly 90% Abnormality of the antihelix 50% Delayed skeletal maturation 50% Atresia of the external auditory canal 7.5% Facial asymmetry 7.5% Renal hypoplasia/aplasia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Otofaciocervical syndrome +What is (are) Punctate palmoplantar keratoderma type I ?,"Punctate palmoplantar keratoderma type I, also known as keratosis palmoplantaris papulosa (KPPP) or Brauer-Buschke-Fisher Syndrome is is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma. Signs and symptoms begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. It is is usually inherited in an autosomal dominant manner and can be caused by mutations in the AAGAB gene. Treatment options may include chemical or mechanical keratolysis as well as systemic acitretin. Some affected individuals have used surgical approaches consisting of excision and skin grafting.",GARD,Punctate palmoplantar keratoderma type I +What are the symptoms of Punctate palmoplantar keratoderma type I ?,"What are the signs and symptoms of Punctate palmoplantar keratoderma type I? Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. The bumps may join to form calluses on pressure points. The legions may cause pain, making walking difficult and impairing hand/finger movement. Symptoms tend to worsen with time and may be aggravated by manual work or injury. In some families, punctate palmoplantar keratoderma type 1 appears to be associated with an increased risk for several types of cancer. The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Lymphoma 50% Neoplasm of the breast 50% Neoplasm of the colon 50% Neoplasm of the pancreas 50% Renal neoplasm 50% Abnormality of the nail 7.5% Abnormality of the skin - Autosomal dominant inheritance - Heterogeneous - Late onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Punctate palmoplantar keratoderma type I +What causes Punctate palmoplantar keratoderma type I ?,"What causes palmoplantar keratoderma type 1? Punctate palmoplantar keratoderma type 1 is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families. Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.",GARD,Punctate palmoplantar keratoderma type I +Is Punctate palmoplantar keratoderma type I inherited ?,"How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition. Keratosis palmoplantaris papulosa shows age dependent penetrance and possibly variable penetrance as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation. Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring.",GARD,Punctate palmoplantar keratoderma type I +How to diagnose Punctate palmoplantar keratoderma type I ?,"How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope).",GARD,Punctate palmoplantar keratoderma type I +What are the treatments for Punctate palmoplantar keratoderma type I ?,"How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cases, medical and surgical treatment for punctate keratodermas do not provide consistent or long-lasting results. In general, there has been some reported success using keratolytics such as corticosteroids, urea, salicylic acid, lactic acid, or Vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, individuals with successful resolution of lesions often relapse unless they are maintained on chronic low-dose therapy. These topical and systemic treatments carry a variety of side effects. Surgery (including excision and skin grafting) for punctate keratodermas has been used on lesions resistant to medical treatment, but healing after surgical treatment can be difficult. CO2 laser ablation has also been attempted and reportedly produces good results for limited areas of hyperkeratosis of the palms.",GARD,Punctate palmoplantar keratoderma type I +What is (are) Childhood ovarian cancer ?,"Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms may include painful menstrual periods; an abdominal lump; pain or swelling in the abdomen; having male sex traits (i.e. body hair or a deep voice); and/or early signs of puberty. The underlying cause of childhood ovarian cancer is often unknown. Certain inherited conditions, such as Ollier disease, Maffucci syndrome and Peutz-Jeghers syndrome are associated with an increased risk of developing childhood ovarian cancer. Treatment varies based on many factors including the type of ovarian tumor and the severity of the condition. It may include surgery, radiation therapy, and/or chemotherapy.",GARD,Childhood ovarian cancer +What are the symptoms of Lissencephaly X-linked ?,"What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lissencephaly X-linked +What are the symptoms of Hydrolethalus syndrome ?,"What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hydrolethalus syndrome +What are the symptoms of Pediatric ulcerative colitis ?,"What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain - Diarrhea - Growth delay - Heterogeneous - Intestinal obstruction - Multifactorial inheritance - Recurrent aphthous stomatitis - Ulcerative colitis - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pediatric ulcerative colitis +What is (are) Gilbert syndrome ?,"Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome. This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern.",GARD,Gilbert syndrome +What are the symptoms of Gilbert syndrome ?,"What are the signs and symptoms of Gilbert syndrome? While many people with Gilbert syndrome never experience any symptoms, mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain. Patients may have more side effects from certain drugs such as irinotecan. The Human Phenotype Ontology provides the following list of signs and symptoms for Gilbert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Abdominal pain 50% Nausea and vomiting 50% Reduced bone mineral density 7.5% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gilbert syndrome +Is Gilbert syndrome inherited ?,"How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GARD,Gilbert syndrome +How to diagnose Gilbert syndrome ?,"Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can help you find a genetics professional in your community: The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.",GARD,Gilbert syndrome +What are the treatments for Gilbert syndrome ?,"How might Gilbert syndrome be treated? Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. Phenobarbital administration usually alleviates signs of jaundice fairly quickly.",GARD,Gilbert syndrome +What are the symptoms of Immunodeficiency with hyper IgM type 2 ?,"What are the signs and symptoms of Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Lymphadenopathy - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Immunodeficiency with hyper IgM type 2 +What is (are) Annular atrophic lichen planus ?,"Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP - ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be found anywhere on the body, they most commonly affect the trunk and legs. The exact underlying cause of annular atrophic LP is unknown. Treatment is not always necessary as some cases of annular atrophic LP resolve on their own. Mild cases that are diagnosed early can often be managed with topical steroids, while more intensive therapies may be required for severe cases.",GARD,Annular atrophic lichen planus +What is (are) 5q14.3 microdeletion syndrome ?,"5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.",GARD,5q14.3 microdeletion syndrome +What are the symptoms of 5q14.3 microdeletion syndrome ?,"What are the signs and symptoms of 5q14.3 microdeletion syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q14.3 microdeletion syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autism 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Aplasia/Hypoplasia of the corpus callosum 50% Short nose 50% Short philtrum 50% Stereotypic behavior 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Anteverted nares 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cerebral cortical atrophy 7.5% Deeply set eye 7.5% Open mouth 7.5% Optic atrophy 7.5% Strabismus 7.5% Thick eyebrow 7.5% Toe syndactyly 7.5% Abnormality of the periventricular white matter 5% Epileptic encephalopathy 5% Depressed nasal bridge - Downturned corners of mouth - Hypertelorism - Inability to walk - Intellectual disability, severe - Low-set ears - Motor delay - Poor eye contact - Short chin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,5q14.3 microdeletion syndrome +What is (are) Bilateral perisylvian polymicrogyria ?,"Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Bilateral perisylvian polymicrogyria +What are the symptoms of Bilateral perisylvian polymicrogyria ?,"What are the signs and symptoms of Bilateral perisylvian polymicrogyria? The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include: Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat Dysarthria Difficulty chewing Dysphagia Mild to severe intellectual disability Seizures and/or epilepsy Sudden, involuntary spasms of facial muscles Developmental delay The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral perisylvian polymicrogyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atypical absence seizures - Cognitive impairment - Delayed speech and language development - Dyslexia - Generalized tonic-clonic seizures - Polymicrogyria - Pseudobulbar paralysis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Bilateral perisylvian polymicrogyria +What causes Bilateral perisylvian polymicrogyria ?,"What causes bilateral perisylvian polymicrogyria? The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cerebral cortex, which is responsible for conscious movement and thought, normally consists of several deep folds (gyri) and grooves (sulci). However, in people affected by BPP, the cerebral cortex has an abnormally increased number of gyri that are unusually small. Scientists believe that these abnormalities occur when newly developed brain cells fail to migrate to their destined locations in the outer portion of the brain. Specific non-genetic causes of polymicrogyria have been recognized, including exposure to cytomegalovirus infection (CMV) during pregnancy. Polymicrogyria has also been associated with certain complications in twin pregnancies.",GARD,Bilateral perisylvian polymicrogyria +Is Bilateral perisylvian polymicrogyria inherited ?,"Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance.",GARD,Bilateral perisylvian polymicrogyria +How to diagnose Bilateral perisylvian polymicrogyria ?,"Is genetic testing available for bilateral perisylvian polymicrogyria? Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown. How is bilateral perisylvian polymicrogyria diagnosed? A diagnosis of bilateral perisylvian polymicrogyria (BPP) is typically based on a thorough physical examination, a detailed medical history and a complete neurological evaluation, which many include the following tests: Electroencephalography (EEG) Computed tomography (CT) scanning Magnetic resonance imaging (MRI)",GARD,Bilateral perisylvian polymicrogyria +What are the treatments for Bilateral perisylvian polymicrogyria ?,"How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit from physical therapy, occupational therapy and/or speech therapy. Please speak with a healthcare provider for more specific information regarding personal medical management.",GARD,Bilateral perisylvian polymicrogyria +What are the symptoms of X-linked Charcot-Marie-Tooth disease type 1 ?,"What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Gait disturbance 7.5% Hearing impairment 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Babinski sign 5% Cerebellar atrophy 5% Dysmetria 5% Lower limb hyperreflexia 5% Nystagmus 5% Sensorineural hearing impairment 5% Achilles tendon contracture - Axonal degeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Dysphagia - Hyporeflexia - Incomplete penetrance - Motor aphasia - Motor delay - Onion bulb formation - Paraparesis - Sensory neuropathy - Slow progression - Toe walking - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked Charcot-Marie-Tooth disease type 1 +What are the symptoms of Hypomandibular faciocranial dysostosis ?,"What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Aplasia/Hypoplasia of the tongue 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Recurrent respiratory infections 90% Short nose 90% Choanal atresia 50% Cleft palate 50% Craniosynostosis 50% Laryngeal atresia 50% Narrow mouth 50% Optic nerve coloboma 50% Polyhydramnios 50% Proptosis 50% Abnormality of female internal genitalia 7.5% Atria septal defect 7.5% Patent ductus arteriosus 7.5% Tracheal stenosis 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Aglossia - Autosomal recessive inheritance - Choanal stenosis - Coronal craniosynostosis - Hypoplasia of the maxilla - Pursed lips - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hypomandibular faciocranial dysostosis +"What are the symptoms of Progeroid syndrome, Penttinen type ?","What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Progeroid syndrome, Penttinen type" +What is (are) Prosthetic joint infection ?,"A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a PJI. Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later. Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint. Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria.",GARD,Prosthetic joint infection +What is (are) Myoclonic epilepsy with ragged red fibers ?,"Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.",GARD,Myoclonic epilepsy with ragged red fibers +What are the symptoms of Myoclonic epilepsy with ragged red fibers ?,"What are the signs and symptoms of Myoclonic epilepsy with ragged red fibers? Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of diseases that affect the mitochondria. MERRF is a progressive multi-system syndrome with symptoms that begin during childhood, but onset may occur in adulthood. The rate of progression varies widely. Onset and extent of symptoms can differ widely from individual to individual and among affected siblings. The classic features of MERRF include: Myoclonus (brief, sudden, twitching muscle spasms) the most characteristic symptom Epileptic seizures Ataxia (impaired coordination) Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders) Additional symptoms may include: hearing loss, lactic acidosis (elevated lactic acid level in the blood), short stature, exercise intolerance, dementia, cardiac defects, eye abnormalities, and speech impairment. However, the exact symptoms aren't the same for everyone, because a person with mitochondrial disease can have a unique mixture of healthy and non-working mitochondria, with a unique distribution in the body. Despite their many potential effects, mitochondrial diseases sometimes cause little disability. Sometimes, a person has enough healthy mitochondria to compensate for the defective ones. The Human Phenotype Ontology provides the following list of signs and symptoms for Myoclonic epilepsy with ragged red fibers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% EMG abnormality 90% Incoordination 90% Multiple lipomas 90% Myopathy 90% Sensorineural hearing impairment 90% Cognitive impairment 50% Short stature 50% Optic atrophy 7.5% Ataxia - Generalized myoclonic seizures - Increased serum lactate - Increased serum pyruvate - Mitochondrial inheritance - Muscle weakness - Myoclonus - Ragged-red muscle fibers - Seizures - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myoclonic epilepsy with ragged red fibers +Is Myoclonic epilepsy with ragged red fibers inherited ?,"Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg. The Centre for Genetics Education provides a detail description of maternal inheritance. The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms. Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation. If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms. All of her daughters children will also inherit the mitochondrial mutation. Her son's children are not at risk of inheriting the mutation.",GARD,Myoclonic epilepsy with ragged red fibers +What is (are) Myotonic dystrophy ?,"Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.",GARD,Myotonic dystrophy +What are the symptoms of Myotonic dystrophy ?,"What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). Some affected men also have hormonal changes that may cause balding or infertility. The severity of symptoms can vary widely among affected people. The signs and symptoms of type 1 and type 2 overlap, but type 2 is generally more mild than type 1. People who are born with the condition have congenital myotonic dystrophy, which is a variation of type 1. Congenital myotonic dystophy causes weakness of all muscles, in addition to breathing problems, developmental delays and intellectual disabilities. The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Cataract 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Diabetes mellitus - Dysphagia - Elevated follicle stimulating hormone - Elevated serum creatine phosphokinase - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - IgG deficiency - IgM deficiency - Insulin insensitivity - Intellectual disability, progressive - Intellectual disability, severe - Iridescent posterior subcapsular cataract - Myalgia - Neck flexor weakness - Obsessive-compulsive trait - Oligospermia - Palpitations - Polyhydramnios - Proximal muscle weakness - Respiratory distress - Tachycardia - Testicular atrophy - Type 2 muscle fiber atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Myotonic dystrophy +What causes Myotonic dystrophy ?,"What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dystrophy, the gene instability leads to a series of events that ultimately prevent cells in muscles and other tissues from acting normally, leading to the features of the condition. The exact functions of these genes in not well understood. The DMPK gene may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives directions to make a protein found mainly in cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes.",GARD,Myotonic dystrophy +What are the treatments for Myotonic dystrophy ?,"What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected.",GARD,Myotonic dystrophy +What is (are) Antecubital pterygium ?,"Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion. This condition is sometimes found as a symptom of nail-patella syndrome.",GARD,Antecubital pterygium +What are the symptoms of Antecubital pterygium ?,"What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Abnormality of the ulna 90% Amniotic constriction ring 90% Aplasia/Hypoplasia of the radius 90% Limitation of joint mobility 90% Abnormality of pelvic girdle bone morphology 50% Elbow dislocation 50% Camptodactyly of finger 7.5% Displacement of the external urethral meatus 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Nephropathy 7.5% Patellar aplasia 7.5% Urogenital fistula 7.5% Antecubital pterygium - Autosomal dominant inheritance - Limited elbow extension - Maldevelopment of radioulnar joint - Posterior subluxation of radial head - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Antecubital pterygium +What is (are) Spinocerebellar ataxia 11 ?,"Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.",GARD,Spinocerebellar ataxia 11 +What are the symptoms of Spinocerebellar ataxia 11 ?,"What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Hyperreflexia - Nystagmus - Progressive cerebellar ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 11 +Is Spinocerebellar ataxia 11 inherited ?,"How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community: GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164 The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/",GARD,Spinocerebellar ataxia 11 +What are the symptoms of Mesomelic dysplasia Kantaputra type ?,"What are the signs and symptoms of Mesomelic dysplasia Kantaputra type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Kantaputra type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Abnormality of the fibula 90% Abnormality of the humerus 90% Camptodactyly of finger 90% Micromelia 90% Short stature 90% Tarsal synostosis 90% Clinodactyly of the 5th finger 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the ribs 7.5% Cubitus valgus 7.5% Talipes 7.5% Vertebral segmentation defect 7.5% Autosomal dominant inheritance - Carpal synostosis - Mesomelia - Radial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Mesomelic dysplasia Kantaputra type +What are the symptoms of Metaphyseal acroscyphodysplasia ?,"What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Metaphyseal acroscyphodysplasia +What is (are) Chromosome 2q deletion ?,"Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.",GARD,Chromosome 2q deletion +What are the symptoms of Familial encephalopathy with neuroserpin inclusion bodies ?,"What are the signs and symptoms of Familial encephalopathy with neuroserpin inclusion bodies? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial encephalopathy with neuroserpin inclusion bodies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Cerebral atrophy - Dementia - Diplopia - Distal sensory impairment - Dysarthria - Encephalopathy - Gliosis - Myoclonus - Neuronal loss in central nervous system - Nystagmus - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial encephalopathy with neuroserpin inclusion bodies +What is (are) Idiopathic inflammatory myopathy ?,"Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person.",GARD,Idiopathic inflammatory myopathy +What are the symptoms of Idiopathic inflammatory myopathy ?,"What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Myositis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Idiopathic inflammatory myopathy +What is (are) Familial atrial fibrillation ?,"Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. Affected people also have an increased risk of stroke and sudden death. While complications may occur at any age, some affected people never have associated health problems. Familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.",GARD,Familial atrial fibrillation +What are the symptoms of Familial atrial fibrillation ?,"What are the signs and symptoms of Familial atrial fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial atrial fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Thromboembolic stroke 75% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial atrial fibrillation +What are the treatments for Familial atrial fibrillation ?,"How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. People who don't have symptoms or related heart problems may not need treatment. The main goals of treatment include: Preventing blot clots and lowering risk of stroke. This may involve blood-thinning medications such as warfarin, dabigatran, heparin, and aspirin. Controlling the rate of contractions of the ventricles (rate control). This may involve medications to restore the heart rate to a normal level, such as beta blockers, calcium channel blockers, and digitalis. Restoring a normal heart rhythm (rhythm control). This is typically for people who don't do well with rate control treatment, or for people who recently began having symptoms. Rhythm control may involve medications or procedures and is usually begun in a hospital for monitoring. Procedures may include cardioversion, catheter ablation, or maze surgery.",GARD,Familial atrial fibrillation +What are the symptoms of Teebi Naguib Al Awadi syndrome ?,"What are the signs and symptoms of Teebi Naguib Al Awadi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Naguib Al Awadi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the fingernails 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Absent ulna 90% Aplasia/hypoplasia of the femur 90% Bowing of the long bones 90% Fibular aplasia 90% Micromelia 90% Oligodactyly (feet) 90% Oligodactyly (hands) 90% Short foot 90% Short stature 90% Split foot 90% Split hand 90% Aplasia/Hypoplasia involving the carpal bones 75% Aplasia/Hypoplasia involving the metacarpal bones 75% Aplasia/Hypoplasia of metatarsal bones 75% Aplasia/Hypoplasia of the phalanges of the hand 75% Aplasia/Hypoplasia of the phalanges of the toes 75% Aplasia/Hypoplasia of the tarsal bones 75% Disproportionate short stature 75% Elbow ankylosis 75% Elbow flexion contracture 75% Humeroradial synostosis 75% Hypoplasia of the radius 75% Phocomelia 75% Radial bowing 75% Abnormality of female internal genitalia 50% Aplasia/Hypoplasia of the pubic bone 50% Aplasia/Hypoplasia of the radius 50% Femoral bowing 50% Intrauterine growth retardation 50% Short neck 50% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hip dislocation 7.5% Hydrops fetalis 7.5% Hypoplasia of penis 7.5% Meningocele 7.5% Short nose 7.5% Skull defect 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Aplasia of the uterus 5% Occipital meningocele 5% Anteriorly displaced genitalia 4/5 Barrel-shaped chest 2/3 Cryptorchidism 2/3 Long face 2/3 Prominent sternum 2/3 Broad clavicles 3/5 Broad neck 3/5 Broad ribs 3/5 Scrotal hypoplasia 1/3 Anonychia - Aplastic pubic bones - Autosomal recessive inheritance - Carpal bone aplasia - Congenital pseudoarthrosis of the clavicle - Decreased calvarial ossification - Epicanthus - Hemivertebrae - High palate - Hypoplastic nipples - Hypospadias - Long ear - Low-set ears - Narrow palate - Pectus carinatum - Pilonidal sinus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Teebi Naguib Al Awadi syndrome +What is (are) Hereditary mucoepithelial dysplasia ?,"Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.",GARD,Hereditary mucoepithelial dysplasia +What are the symptoms of Hereditary mucoepithelial dysplasia ?,"What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - Pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary mucoepithelial dysplasia +What are the symptoms of Gastrocutaneous syndrome ?,"What are the signs and symptoms of Gastrocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastrocutaneous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Cafe-au-lait spot 90% Hypertelorism 90% Melanocytic nevus 90% Myopia 90% Abnormality of the pulmonary artery 50% Depressed nasal bridge 50% Type II diabetes mellitus 50% Coronary artery disease 7.5% Strabismus 7.5% Synophrys 7.5% Upslanted palpebral fissure 7.5% Autosomal dominant inheritance - Hiatus hernia - Multiple lentigines - Peptic ulcer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gastrocutaneous syndrome +What is (are) Charcot-Marie-Tooth disease type 1E ?,"Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.",GARD,Charcot-Marie-Tooth disease type 1E +What are the symptoms of Charcot-Marie-Tooth disease type 1E ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Childhood onset - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Juvenile onset - Pes cavus - Sensorineural hearing impairment - Split hand - Steppage gait - Talipes calcaneovalgus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Charcot-Marie-Tooth disease type 1E +What are the symptoms of Microphthalmia microtia fetal akinesia ?,"What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the outer ear 90% Aplasia/Hypoplasia affecting the eye 90% Camptodactyly of finger 90% Frontal bossing 90% Limitation of joint mobility 90% Patent ductus arteriosus 90% Short nose 90% Abnormality of the upper urinary tract 50% Duodenal stenosis 50% Hypoplasia of penis 50% Polyhydramnios 50% Symphalangism affecting the phalanges of the hand 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microphthalmia microtia fetal akinesia +What are the symptoms of Diamond-Blackfan anemia 3 ?,"What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Diamond-Blackfan anemia 3 +What is (are) Eales disease ?,"Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.",GARD,Eales disease +What are the treatments for Eales disease ?,"How might Eales disease be treated? Depending on the disease stage, treatment may involve corticosteroids (systemic or periocular) and/or immunosuppressants (azathioprine, cyclosporine). Anti-tubercular therapy has been recommended by some authors, however this treatment remains controversial. Bevacizumab (Avastin), a monoclonal antibody, is sometimes used via intravitreal injection. This medication appears to induce regression of neovascularization. Laser photocoagulation has become the treatment of choice in patients in the proliferative stage of Eales disease. Vitreoretinal surgery may be required if recurrent vitreous hemorrhage occurs. There may be other treatment options (for example, antioxidant vitamins A, C, and E) for Eales disease as well. We recommend that you discuss these and other treatment options with your partner's health-care providers. You can find relevant articles on the treatment of Eales disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using 'Eales disease AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www.ncbi.nlm.nih.gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.",GARD,Eales disease +What are the symptoms of Pseudodiastrophic dysplasia ?,"What are the signs and symptoms of Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Elbow dislocation 90% Hypoplasia of the zygomatic bone 90% Scoliosis 90% Omphalocele 7.5% Autosomal recessive inheritance - Fever - Hypoplasia of midface - Hypoplasia of the odontoid process - Lumbar hyperlordosis - Malar flattening - Phalangeal dislocation - Platyspondyly - Rhizomelia - Severe short stature - Talipes equinovarus - Tongue-like lumbar vertebral deformities - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pseudodiastrophic dysplasia +What is (are) Aromatic L-amino acid decarboxylase deficiency ?,"Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The condition is caused by mutations in the DDC gene. It is inherited in an autosomal recessive pattern. Treatment includes a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit.",GARD,Aromatic L-amino acid decarboxylase deficiency +What are the symptoms of Aromatic L-amino acid decarboxylase deficiency ?,"What are the signs and symptoms of Aromatic L-amino acid decarboxylase deficiency? Symptoms, which typically present during the first year of life, include severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). This condition may also cause infants to lack energy, feed poorly, startle easily, and have sleep disturbances. Many people with AADC deficiency exprience episodes called oculogyric crises (also called ""spells"" or ""attacks""), which are characterized by abnormal rotation of the eyeballs, extreme irritability and agitation, pain, muscle spasms, and uncontrolled movements of the head and neck.. These episodes can last for many hours and can be times of extreme concern for caregivers and family members. AADC deficiency may also affect the autonomic nervous system, which controls involuntary body processes like regulation of blood pressure and body temperature. Autonomic symptoms may include droopy eye lids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), gastroesophageal reflux, low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest. The signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep. The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatic L-amino acid decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Babinski sign - Choreoathetosis - Constipation - Decreased CSF homovanillic acid (HVA) - Diarrhea - Emotional lability - Feeding difficulties in infancy - Gastroesophageal reflux - Hyperhidrosis - Hyperreflexia - Hypotension - Infantile onset - Intermittent hypothermia - Irritability - Limb dystonia - Limb hypertonia - Miosis - Muscular hypotonia of the trunk - Myoclonus - Ptosis - Sleep disturbance - Temperature instability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aromatic L-amino acid decarboxylase deficiency +"What are the symptoms of Craniosynostosis, anal anomalies, and porokeratosis ?","What are the signs and symptoms of Craniosynostosis, anal anomalies, and porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis, anal anomalies, and porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Hyperkeratosis 90% Urogenital fistula 90% Cognitive impairment 50% Ectopic anus 50% Hearing impairment 50% Malar flattening 50% Proptosis 50% Thick lower lip vermilion 50% Wide mouth 50% Cleft palate 7.5% Kyphosis 7.5% Anal atresia - Autosomal recessive inheritance - Brachycephaly - Coronal craniosynostosis - Delayed cranial suture closure - Ectropion - Hypoplasia of midface - Hypospadias - Lambdoidal craniosynostosis - Parietal foramina - Porokeratosis - Ptosis - Rectovaginal fistula - Sagittal craniosynostosis - Sensorineural hearing impairment - Short clavicles - Short ribs - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Craniosynostosis, anal anomalies, and porokeratosis" +What is (are) Familial isolated hyperparathyroidism ?,"Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).",GARD,Familial isolated hyperparathyroidism +What are the symptoms of Familial isolated hyperparathyroidism ?,"What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypercalcemia - Primary hyperparathyroidism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial isolated hyperparathyroidism +Is Familial isolated hyperparathyroidism inherited ?,"How is familial isolated hyperparathyroidism inherited? Familial isolated hyperparathyroidism (FIHP) is typically inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene from the affected parent.",GARD,Familial isolated hyperparathyroidism +How to diagnose Familial isolated hyperparathyroidism ?,"How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of another condition that is not manifesting completely, or it may be a distinct condition due to mutations in genes that have not yet been identified. Clinical exams, laboratory tests, and histological (microscopic) findings are needed before making a diagnosis of FIHP. A diagnosis of FIHP may include the findings of: hypercalcemia (defined as a serum calcium level greater than 10.5 mg/dL) inappropriately high parathyroid hormone (PTH) concentrations parathyroid adenomas exclusion of multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT) In the majority of people with FIHP, genetic mutations are not found. However, in some people, mutations in the MEN1, CASR, and CDC73 (HRPT2) genes have been reported. At this time, no gene has been associated exclusively with FIHP.",GARD,Familial isolated hyperparathyroidism +What are the symptoms of Chromosome 19q13.11 deletion syndrome ?,"What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Decreased body weight 90% Displacement of the external urethral meatus 90% Intrauterine growth retardation 90% Microcephaly 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the eyebrow 50% Broad columella 50% Cryptorchidism 50% Dry skin 50% Fine hair 50% Finger syndactyly 50% High forehead 50% Long face 50% Overlapping toe 50% Recurrent respiratory infections 50% Supernumerary nipple 50% Thin skin 50% Thin vermilion border 50% Toe syndactyly 50% Underdeveloped nasal alae 50% Abnormality of the hip bone 7.5% Bifid scrotum 7.5% Cataract 7.5% Hearing impairment 7.5% Microcornea 7.5% Ventricular septal defect 7.5% Wide mouth 7.5% Cutaneous finger syndactyly - Decreased subcutaneous fat - Failure to thrive - Feeding difficulties in infancy - Hypospadias - Intellectual disability - Low-set ears - Macrotia - Nail dysplasia - Postnatal growth retardation - Retrognathia - Short stature - Single umbilical artery - Sparse eyebrow - Sparse eyelashes - Sporadic - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 19q13.11 deletion syndrome +What are the symptoms of Scalp ear nipple syndrome ?,"What are the signs and symptoms of Scalp ear nipple syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp ear nipple syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the antihelix 90% Abnormality of the antitragus 90% Abnormality of the tragus 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the nipples 90% Abnormality of the fingernails 50% Cataract 50% Delayed eruption of teeth 50% Hypertension 50% Recurrent urinary tract infections 50% Telecanthus 50% Type I diabetes mellitus 50% Abnormality of the kidney 7.5% Abnormality of the ureter 7.5% Cleft eyelid 7.5% Hypohidrosis 7.5% Anteverted nares 5% Blepharophimosis 5% Congenital cataract 5% Epicanthus 5% Hypotelorism 5% Iris coloboma 5% Mandibular prognathia 5% Pyelonephritis 5% Renal agenesis 5% Renal hypoplasia 5% Renal insufficiency 5% Short columella 5% Sparse hair 5% 2-3 toe syndactyly - 3-4 finger cutaneous syndactyly - Abnormality of the endocrine system - Abnormality of the thorax - Agenesis of permanent teeth - Autosomal dominant inheritance - Breast aplasia - Cupped ear - Depressed nasal bridge - Low-set ears - Microtia - Nail dysplasia - Palpebral edema - Protruding ear - Small earlobe - Underdeveloped antitragus - Underdeveloped tragus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Scalp ear nipple syndrome +What is (are) Dominant dystrophic epidermolysis bullosa ?,"Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.",GARD,Dominant dystrophic epidermolysis bullosa +What are the symptoms of Dominant dystrophic epidermolysis bullosa ?,"What are the signs and symptoms of Dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. Blistering may be relatively benign, but still heals with scarring and milia. Dystrophic nails, especially toenails, are common and loss of nails may occur. In the mildest forms, dystrophic nails may be the only characteristic noted. Blistering in DDEB often improves somewhat with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Dominant dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Cheilitis 90% Carious teeth 50% Hypopigmented skin patches 50% Abnormal renal physiology 7.5% Abnormality of the urethra 7.5% Anemia 7.5% Corneal erosion 7.5% Feeding difficulties in infancy 7.5% Tracheoesophageal fistula 7.5% Atrophic scars - Autosomal dominant inheritance - Congenital onset - Milia - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Dominant dystrophic epidermolysis bullosa +What causes Dominant dystrophic epidermolysis bullosa ?,"What causes dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal. A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Click on the link for more.",GARD,Dominant dystrophic epidermolysis bullosa +Is Dominant dystrophic epidermolysis bullosa inherited ?,"How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.",GARD,Dominant dystrophic epidermolysis bullosa +What are the treatments for Dominant dystrophic epidermolysis bullosa ?,"How might dominant dystrophic epidermolysis bullosa be treated? There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms. For some individuals, such as those that have a mild form of dominant dystrophic epidermolysis bullosa (DDEB), dystrophic nails may be the only manifestation. However, other individuals may have much more severe problems that need to be managed. Management typically focuses on treating blisters and avoiding or treating infections. Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical antibiotic ointments and antimicrobial dressings should be reserved for those wounds that are colonized with bacteria and fail to heal, referred to as critical colonization."" Individuals with epidermolysis bullosa (EB) have increased caloric and protein needs due to the increased energy utilized in wound healing. Involvement of the digestive system in some forms of EB may limit nutritional intake. Infants and children with more severe forms of EB and failure to thrive usually require attention to fluid and electrolyte balance and may require nutritional support, including a gastrotomy feeding tube. Anemia is typically treated with iron supplements and transfusions as needed. Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Surveillance is important for individuals with DEB. Biopsies of abnormal-appearing wounds that do not heal may be recommended in some types of DEB due to predisposition to squamous cell carcinoma, beginning in the second decade of life. Screening for deficiencies of iron, zinc, vitamin D, selenium, and carnitine is typically recommended after the first year of life. Routine echocardiograms are recommended to identify dilated cardiomyopathy, and bone mineral density studies are recommended to identify osteoporosis. Activities and bandages that may traumatize the skin (including all adhesives) should typically be avoided. Recent treatment advancements and therapies under investigation include but are not limited to: Use of biological dressings to treat chronic or recurrent skin ulcers Bone marrow transplantation Intra-dermal (in the skin) injection of fibroblasts Protein replacement therapy (intra-dermal injection of type VII collagen) Gene therapy Revertant mosaicism Gene correction technologies (ex. CRISPR) DEBRA International has developed clinical practice guidelines for different aspects of treating EB including wound care and pain management. Click on the link to see their completed guidelines.",GARD,Dominant dystrophic epidermolysis bullosa +What are the symptoms of Griscelli syndrome ?,"What are the signs and symptoms of Griscelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypopigmentation of hair 90% Hypopigmented skin patches 90% Premature graying of hair 90% Abnormality of lipid metabolism 50% Abnormality of neutrophils 50% Decreased antibody level in blood 50% Leukopenia 50% Lymphadenopathy 50% Thrombocytopenia 50% Abnormality of movement 7.5% Abnormality of temperature regulation 7.5% Abnormality of the eyebrow 7.5% Ascites 7.5% Bone marrow hypocellularity 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Cranial nerve paralysis 7.5% Edema of the lower limbs 7.5% Encephalocele 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypertonia 7.5% Incoordination 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Ocular albinism 7.5% Seizures 7.5% Short stature 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Griscelli syndrome +What are the symptoms of Renal tubular dysgenesis ?,"What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Joint hypermobility 90% Polycystic kidney dysplasia 90% Polyhydramnios 90% Premature birth 90% Microcephaly 7.5% Nephropathy 7.5% Oligohydramnios 7.5% Single transverse palmar crease 7.5% Tetralogy of Fallot 7.5% Anuria - Autosomal recessive inheritance - Hypotension - Potter facies - Pulmonary hypoplasia - Renotubular dysgenesis - Respiratory insufficiency - Widely patent fontanelles and sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Renal tubular dysgenesis +What is (are) Primary carnitine deficiency ?,"Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.",GARD,Primary carnitine deficiency +What are the symptoms of Primary carnitine deficiency ?,"What are the signs and symptoms of Primary carnitine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary carnitine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cardiomegaly - Coma - Confusion - Congestive heart failure - Decreased carnitine level in liver - Decreased plasma carnitine - Elevated hepatic transaminases - Encephalopathy - Endocardial fibroelastosis - Failure to thrive - Hepatic steatosis - Hepatomegaly - Hyperammonemia - Hypertrophic cardiomyopathy - Impaired gluconeogenesis - Lethargy - Muscular hypotonia - Myopathy - Recurrent hypoglycemia - Reduced muscle carnitine level - Somnolence - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Primary carnitine deficiency +What causes Primary carnitine deficiency ?,"What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition.",GARD,Primary carnitine deficiency +Is Primary carnitine deficiency inherited ?,"How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. The parents of an affected individual, who each likely have one mutated copy, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.",GARD,Primary carnitine deficiency +What are the treatments for Primary carnitine deficiency ?,"How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. Treatment is often needed throughout life. The main treatment for this condition is lifelong use of L-carnitine, which is a natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. L-carnitine can reverse the heart problems and muscle weakness caused by this condition. In addition to L-carnitine, infants and young children with primary carnitine deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours. But some babies need to eat even more frequently than this. Many teens and adults with this condition can go without food for up to 12 hours without problems. Some children and teens benefit from a low-fat, high carbohydrate diet. Any diet changes should be made under the guidance of a metabolic specialist and/or dietician familiar with this condition. Ask your doctor whether your child needs to have any changes in his or her diet. Other treatments usually need to be continued throughout life. Infants and children with this condition need to eat extra starchy food and drink more fluids during any illness, even if they may not feel hungry, because they could have a metabolic crisis. Children who are sick often do not want to eat. If they wont or cant eat, they may need to be treated in the hospital to prevent serious health problems.",GARD,Primary carnitine deficiency +What is (are) Guillain-Barre syndrome ?,"Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. Usually Guillain-Barr syndrome occurs a few days or weeks after symptoms of a viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. It remains unclear why only some people develop Guillain-Barr syndrome but there may be a genetic predisposition in some cases. Diagnosed patients should be admitted to a hospital for early treatment. There is no cure for Guillain-Barr syndrome, but treatments such as plasma exchange (plasmapheresis) and high dose immunoglobulins may reduce the severity and duration of symptoms. Recovery can take as little as a few days to as long as a few years. About 30% of those with Guillain-Barr syndrome have residual weakness. A small number may suffer a relapse many years after the initial attack.",GARD,Guillain-Barre syndrome +What are the symptoms of Guillain-Barre syndrome ?,"What are the signs and symptoms of Guillain-Barre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Guillain-Barre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute demyelinating polyneuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Guillain-Barre syndrome +What is (are) Pure autonomic failure ?,"Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. Failure of this system can cause a variety of symptoms. The most common symptom of pure autonomic failure is orthostatic hypotension. Other symptoms may include decreased sweating, heat intolerance, inability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. The cause of this condition is usually unknown.",GARD,Pure autonomic failure +What is (are) Hereditary spherocytosis ?,"Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.",GARD,Hereditary spherocytosis +What are the symptoms of Hereditary spherocytosis ?,"What are the signs and symptoms of Hereditary spherocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cholelithiasis - Hemolytic anemia - Hyperbilirubinemia - Jaundice - Reticulocytosis - Spherocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hereditary spherocytosis +What causes Hereditary spherocytosis ?,"What causes hereditary spherocytosis? Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in the blood circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of this condition. Mutations in the ANK1 gene are responsible for about half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis account for a smaller percentage of cases and include the EPB42, SLC4A1, SPTA1, and SPTB genes.",GARD,Hereditary spherocytosis +Is Hereditary spherocytosis inherited ?,"How is hereditary spherocytosis inherited? About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected individual. Each child of an individual with an autosomal dominant form of hereditary spherocytosis has a 50% (1 in 2) risk to inherit the mutated gene. Less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene in each cell have mutations. Parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers of an autosomal recessive condition typically do not have signs and symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have to condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. In some of the cases that result from new mutations in people with no history of the condition in their family, the inheritance pattern may be unclear.",GARD,Hereditary spherocytosis +What is (are) Hyperprolinemia type 2 ?,"Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.",GARD,Hyperprolinemia type 2 +What are the symptoms of Hyperprolinemia type 2 ?,"What are the signs and symptoms of Hyperprolinemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperprolinemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Hyperprolinemia - Intellectual disability - Prolinuria - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Hyperprolinemia type 2 +What are the treatments for Hyperprolinemia type 2 ?,"How might hyperprolinemia type 2 be treated? There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person's diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms.",GARD,Hyperprolinemia type 2 +What is (are) Axenfeld-Rieger syndrome type 2 ?,"Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.",GARD,Axenfeld-Rieger syndrome type 2 +What are the symptoms of Axenfeld-Rieger syndrome type 2 ?,"What are the signs and symptoms of Axenfeld-Rieger syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of cardiovascular system morphology - Anal stenosis - Anterior chamber synechiae - Autosomal dominant inheritance - Blindness - Cryptorchidism - Hydrocephalus - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Inguinal hernia - Mandibular prognathia - Microcornea - Opacification of the corneal stroma - Short philtrum - Umbilical hernia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Axenfeld-Rieger syndrome type 2 +What are the symptoms of Keratoconus posticus circumscriptus ?,"What are the signs and symptoms of Keratoconus posticus circumscriptus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus posticus circumscriptus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral segmentation and fusion - Autosomal recessive inheritance - Brachydactyly syndrome - Central posterior corneal opacity - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Growth delay - Hypertelorism - Keratoconus - Limited elbow extension and supination - Recurrent urinary tract infections - Short neck - Vesicoureteral reflux - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Keratoconus posticus circumscriptus +What are the symptoms of Wittwer syndrome ?,"What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Anteverted nares 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Delayed skeletal maturation 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Seizures 90% Short stature 90% Single transverse palmar crease 90% Thin vermilion border 90% Abnormality of the ureter 50% Cryptorchidism 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormal lung lobation 7.5% Abnormality of the teeth 7.5% Abnormality of the thorax 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Aplasia/Hypoplasia of the lungs 7.5% Corneal dystrophy 7.5% Displacement of the external urethral meatus 7.5% Intestinal malrotation 7.5% Optic atrophy 7.5% Premature graying of hair 7.5% Growth delay - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Wittwer syndrome +What is (are) Familial juvenile hyperuricaemic nephropathy ?,"Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In FJHN, the kidneys are unable to remove uric acid from the blood effectively. Beginning in the early teens, FJHN causes gout and slowly progressive kidney disease, resulting in kidney failure. People with FJHN typically require either dialysis to remove wastes from the blood or a kidney transplant. FJHN is caused by mutations in the UMOD gene and is inherited in an autosomal dominant fashion.",GARD,Familial juvenile hyperuricaemic nephropathy +What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?,"What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Familial juvenile hyperuricaemic nephropathy +What are the symptoms of X-linked Charcot-Marie-Tooth disease type 2 ?,"What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Distal amyotrophy 5% Intellectual disability 5% Areflexia - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Infantile onset - Steppage gait - Upper limb muscle weakness - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,X-linked Charcot-Marie-Tooth disease type 2 +What is (are) Weill-Marchesani syndrome ?,"Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Occasionally patients with this condition have heart defects. In some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTPBP2 genes. Weill-Marchesani syndrome can also have autosomal dominant inheritance, and a FBN1 gene mutation has been found in one family. People with this condition usually need regular eye exams and sometimes need eye surgery.",GARD,Weill-Marchesani syndrome +What are the symptoms of Weill-Marchesani syndrome ?,"What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lens 90% Ectopia lentis 90% Glaucoma 90% Myopia 90% Short stature 90% Short toe 90% Limitation of joint mobility 50% Thickened skin 50% Intellectual disability, mild 11% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Abnormality of dental morphology - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Blindness - Brachycephaly - Brachydactyly syndrome - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanges of the hand - Broad ribs - Broad skull - Cataract - Depressed nasal bridge - Hypoplasia of the maxilla - Joint stiffness - Lumbar hyperlordosis - Misalignment of teeth - Mitral regurgitation - Narrow palate - Patent ductus arteriosus - Proportionate short stature - Pulmonic stenosis - Scoliosis - Severe Myopia - Shallow anterior chamber - Shallow orbits - Spinal canal stenosis - Thin bony cortex - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Weill-Marchesani syndrome +What causes Weill-Marchesani syndrome ?,"What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2.",GARD,Weill-Marchesani syndrome +How to diagnose Weill-Marchesani syndrome ?,How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.,GARD,Weill-Marchesani syndrome +What are the treatments for Weill-Marchesani syndrome ?,"How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists. Regular eye exams are important for early diagnosis of eye problems. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care. Joint stiffness and bone abnormalities can cause complications if anesthesia is needed for a procedure. It is important to inform a physician of the diagnosis before receiving anesthesia, as it can impact airway management.",GARD,Weill-Marchesani syndrome +What are the symptoms of Long QT syndrome 3 ?,"What are the signs and symptoms of Long QT syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Long QT syndrome 3 +What are the symptoms of Lowry Wood syndrome ?,"What are the signs and symptoms of Lowry Wood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lowry Wood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microcephaly 90% Short stature 90% Abnormality of retinal pigmentation 50% Arthralgia 50% Cognitive impairment 50% Nystagmus 50% Abnormality of nail color 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the radius 7.5% Astigmatism 7.5% Brachydactyly syndrome 7.5% Delayed skeletal maturation 7.5% Elbow dislocation 7.5% Limitation of joint mobility 7.5% Patellar dislocation 7.5% Platyspondyly 7.5% Visual impairment 7.5% Autosomal recessive inheritance - Epiphyseal dysplasia - Intellectual disability, mild - Irregular epiphyses - Shallow acetabular fossae - Small epiphyses - Small for gestational age - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Lowry Wood syndrome +What is (are) Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ?,"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. It is considered to be a precursor for pulmonary carcinoid tumors. Because so few cases have been reported in the medical literature, there is limited information on the prognosis and management of this condition.",GARD,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia +What are the symptoms of Multiple epiphyseal dysplasia 3 ?,"What are the signs and symptoms of Multiple epiphyseal dysplasia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip joint - Autosomal dominant inheritance - Delayed epiphyseal ossification - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Irregular epiphyses - Mild short stature - Osteoarthritis - Proximal muscle weakness - Short metacarpal - Small epiphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Multiple epiphyseal dysplasia 3 +What is (are) Spondyloepiphyseal dysplasia congenita ?,Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.,GARD,Spondyloepiphyseal dysplasia congenita +What are the symptoms of Spondyloepiphyseal dysplasia congenita ?,"What are the signs and symptoms of Spondyloepiphyseal dysplasia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Micromelia 90% Narrow chest 90% Short neck 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Broad forehead 50% Cleft palate 50% Hyperlordosis 50% Hypertelorism 50% Malar flattening 50% Osteoarthritis 50% Talipes 50% Cataract 7.5% Glaucoma 7.5% Hearing impairment 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Retinal detachment 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Barrel-shaped chest - Cervical myelopathy - Coxa vara - Delayed calcaneal ossification - Delayed pubic bone ossification - Flat face - Flattened epiphysis - Hip dislocation - Hypoplasia of the odontoid process - Limitation of knee mobility - Limited elbow movement - Limited hip movement - Lumbar hyperlordosis - Muscular hypotonia - Neonatal short-trunk short stature - Ovoid vertebral bodies - Pectus carinatum - Platyspondyly - Respiratory distress - Restrictive lung disease - Spondyloepiphyseal dysplasia - Talipes equinovarus - Vitreoretinal degeneration - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spondyloepiphyseal dysplasia congenita +Is Spondyloepiphyseal dysplasia congenita inherited ?,"How is spondyloepiphyseal dysplasia congenita inherited? Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; the condition more commonly results from a random, new mutation in the gene occurring for the first time in an affected individual who does not have a history SEDC in the family. In most of these cases, the risk to have another child with the condition is comparable to the risk for an individual in the general population to have a child with the condition. A few cases of autosomal recessive forms of SEDC have been reported. Germline mosaicism has also been reported for this condition. In this case, the parent does not have the mutated gene in all the cells of the body (and is not affected), but only in some of the germ cells (sperm or egg cells). The recurrence risk for a parent with germline mosaicism to have another affected child is difficult to predict. For conditions with autosomal dominant inheritance, studies have demonstrated that the risk to have another affected child may be low (about 1%), moderate (about 6%), or higher (about 30%), depending on the proportion of germ cells with the mutation as well as the disorder itself.",GARD,Spondyloepiphyseal dysplasia congenita +What are the symptoms of Acromesomelic dysplasia Maroteaux type ?,"What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acromesomelic dysplasia Maroteaux type +What are the symptoms of Anencephaly and spina bifida X-linked ?,"What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly - Spina bifida - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Anencephaly and spina bifida X-linked +What is (are) Embryonal carcinoma ?,"Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ cell tumors. Most testicular cancers grow from germ cells, the cells that make sperm. Germ cell tumors are broadly divided into seminomas and nonseminomas because each type has a different prognosis and treatment regimen. Nonseminomas, which are more common, tend to grow more quickly than seminomas. Nonseminoma tumors are often made up of more than one type of cell, and are identified according to the different cell types.",GARD,Embryonal carcinoma +What is (are) Chromosome 1q41-q42 deletion syndrome ?,"Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of several genes. This condition is inherited in an autosomal dominant manner; although most cases do not have a family history of this condition.",GARD,Chromosome 1q41-q42 deletion syndrome +What are the symptoms of Chromosome 1q41-q42 deletion syndrome ?,"What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Chromosome 1q41-q42 deletion syndrome +What are the symptoms of Carnosinemia ?,"What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Carnosinemia +What are the symptoms of Talonavicular coalition ?,"What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Talonavicular coalition +What are the symptoms of Microtia-Anotia ?,"What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Holoprosencephaly - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Microtia-Anotia +"What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ?","What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Distal arthrogryposis - Full cheeks - Growth hormone deficiency - Hammertoe - Intellectual disability, progressive - Intellectual disability, severe - Square face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies" +What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ?,"What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Cataract - Failure to thrive - Hip dislocation - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Microcephaly - Small for gestational age - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cataract-microcephaly-failure to thrive-kyphoscoliosis +What are the symptoms of Cleft palate short stature vertebral anomalies ?,"What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Cleft palate short stature vertebral anomalies +What is (are) Klippel Feil syndrome ?,"Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.",GARD,Klippel Feil syndrome +What are the symptoms of Klippel Feil syndrome ?,"What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features. This condition can cause chronic headaches as well as pain in both the neck and the back. KFS has been reported in people with a very wide variety of other conditions and abnormalities, including: scoliosis (curvature of the spine) cervical dystonia (painful, involuntary tensing of the neck muscles) genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys) Sprengel deformity cardiac (heart) defects such as ventricular septal defect pulmonary abnormalities (relating to the lungs) and respiratory problems hearing deficits facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia) torticollis central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms other skeletal abnormalities (including those of the ribs, limbs and/or fingers) situs inversus short stature synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand) Wildervank syndrome Duane syndrome or other eye (ocular) abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal vertebral segmentation and fusion 90% Cervical vertebral fusion (C2/C3) 90% Facial asymmetry 90% Limited neck range of motion 90% Low posterior hairline 90% Short neck 90% Vertebral segmentation defect 90% Webbed neck 90% Abnormality of the ribs 50% Abnormality of the shoulder 50% Congenital muscular torticollis 50% Hearing impairment 50% Scoliosis 50% Sprengel anomaly 50% Abnormality of limb bone morphology 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the sacrum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Hemiplegia/hemiparesis 7.5% Posterior fossa cyst 7.5% Renal hypoplasia/aplasia 7.5% Spina bifida 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Scoliosis 30/50 Sprengel anomaly 21/50 Mixed hearing impairment 5/24 Bimanual synkinesia 9/50 Unilateral renal agenesis 7/45 Abnormality of cardiovascular system morphology 21/505 Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Cervicomedullary schisis - Cleft upper lip - Conductive hearing impairment - Fused cervical vertebrae - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Klippel Feil syndrome +What causes Klippel Feil syndrome ?,"What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene.",GARD,Klippel Feil syndrome +Is Klippel Feil syndrome inherited ?,"Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.",GARD,Klippel Feil syndrome +How to diagnose Klippel Feil syndrome ?,"How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality. KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include: examination of the chest to rule out involvement of the heart and lungs examination of the chest wall to detect possible rib anomalies MRI for spinal stenosis or neurological deficits ultrasound of the kidneys for renal abnormalities hearing evaluation due to high incidence of hearing loss Various lab tests to assess organ function Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.",GARD,Klippel Feil syndrome +What are the treatments for Klippel Feil syndrome ?,"How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine. Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis. Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body. Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae.",GARD,Klippel Feil syndrome +What are the symptoms of Ichthyosis cheek eyebrow syndrome ?,"What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Asymmetry of the thorax 90% Full cheeks 90% Ichthyosis 90% Pectus excavatum 90% Scoliosis 90% Sparse lateral eyebrow 90% Kyphosis 7.5% Abnormality of the thorax - Autosomal dominant inheritance - High palate - Kyphoscoliosis - Pes planus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Ichthyosis cheek eyebrow syndrome +What is (are) Inflammatory breast cancer ?,"Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.",GARD,Inflammatory breast cancer +What are the symptoms of Waardenburg syndrome type 2B ?,"What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Heterochromia iridis - Premature graying of hair - Sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Waardenburg syndrome type 2B +What is (are) Hepatic encephalopathy ?,"Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may include personality or mood changes, intellectual impairment, abnormal movements, a depressed level of consciousness, and other symptoms. There are several theories regarding the exact cause, but development of the condition is probably at least partially due to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.",GARD,Hepatic encephalopathy +Is Hepatic encephalopathy inherited ?,"Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly causes HE, it is thought that one of the main causes is the accumulation of ammonia in the blood, which the liver, damaged by alcoholic liver disease, cannot remove. Researchers have found that ammonia alters the expression of certain genes; the genes that may be affected carry instructions for brain proteins. When the instructions in these genes are not ""followed"" correctly by the body due to the altered expression of the genes, the cells in the brain can no longer function normally, which may contribute to the signs and symptoms of HE. However, the genes themselves are not changed in such a way that these changes are passed down to an individual's children.",GARD,Hepatic encephalopathy +What is (are) C1q deficiency ?,"C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.",GARD,C1q deficiency +What are the symptoms of C1q deficiency ?,"What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Membranoproliferative glomerulonephritis 7.5% Systemic lupus erythematosus 7.5% Autosomal recessive inheritance - Decreased serum complement factor I - Recurrent infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,C1q deficiency +What is (are) Histiocytosis-lymphadenopathy plus syndrome ?,"Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual.",GARD,Histiocytosis-lymphadenopathy plus syndrome +What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ?,"What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Histiocytosis-lymphadenopathy plus syndrome +What is (are) Waardenburg syndrome ?,"Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.",GARD,Waardenburg syndrome +What are the symptoms of Waardenburg syndrome ?,"What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Waardenburg syndrome +How to diagnose Waardenburg syndrome ?,"How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or ""unibrow"") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).",GARD,Waardenburg syndrome +"What are the symptoms of Cataract, total congenital ?","What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital nuclear cataract - Severe visual impairment - Sutural cataract - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Cataract, total congenital" +What are the symptoms of Acatalasemia ?,"What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Oral ulcer - Reduced catalase activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Acatalasemia +What is (are) Aceruloplasminemia ?,"Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.",GARD,Aceruloplasminemia +What are the symptoms of Aceruloplasminemia ?,"What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of iron homeostasis 90% Anemia 90% Chorea 90% Diabetes mellitus 90% Retinopathy 90% Tremor 90% Behavioral abnormality 50% Developmental regression 50% Hypertonia 50% Incoordination 50% Neurological speech impairment 50% Congestive heart failure 7.5% Hypothyroidism 7.5% Memory impairment 7.5% Abnormality of extrapyramidal motor function - Adult onset - Ataxia - Autosomal recessive inheritance - Blepharospasm - Cogwheel rigidity - Dementia - Dysarthria - Increased serum ferritin - Retinal degeneration - Scanning speech - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Aceruloplasminemia +How to diagnose Aceruloplasminemia ?,"How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity. Genetic testing is available on a research basis.",GARD,Aceruloplasminemia +What are the symptoms of Pili torti developmental delay neurological abnormalities ?,"What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Pili torti developmental delay neurological abnormalities +What are the symptoms of Tiglic acidemia ?,"What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Episodic abdominal pain - Ketosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Tiglic acidemia +What is (are) Liddle syndrome ?,"Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.",GARD,Liddle syndrome +What are the symptoms of Liddle syndrome ?,"What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hypertension, hypokalemia (low blood potassium) and metabolic alkalosis. Symptoms of hypokalemia may include weakness, fatigue, muscle pain (myalgia), constipation or heart palpitations. Some affected individuals are not hypokalemic at the time of presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Liddle syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 90% Constipation 90% Hypertension 90% Hypokalemia 90% Cerebral ischemia 50% Muscle weakness 50% Nephropathy 50% Renal insufficiency 50% Autosomal dominant inheritance - Decreased circulating renin level - Hypokalemic alkalosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Liddle syndrome +What causes Liddle syndrome ?,"What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.",GARD,Liddle syndrome +Is Liddle syndrome inherited ?,How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. Individuals with an autosomal dominant condition have a 50% (1 in 2) risk to pass the mutated copy of the gene on to each of his/her children.,GARD,Liddle syndrome +How to diagnose Liddle syndrome ?,"How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing.",GARD,Liddle syndrome +What are the treatments for Liddle syndrome ?,"How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatment, prognosis is good. Without treatment, cardiovascular (heart-related) and renal (kidney-related) complications often occur.",GARD,Liddle syndrome +"What are the symptoms of Paralysis agitans, juvenile, of Hunt ?","What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,"Paralysis agitans, juvenile, of Hunt" +What are the symptoms of Partial agenesis of corpus callosum ?,"What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Partial agenesis of corpus callosum +What is (are) 17q23.1q23.2 microdeletion syndrome ?,"17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.",GARD,17q23.1q23.2 microdeletion syndrome +What are the symptoms of 17q23.1q23.2 microdeletion syndrome ?,"What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,17q23.1q23.2 microdeletion syndrome +What causes 17q23.1q23.2 microdeletion syndrome ?,"What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.",GARD,17q23.1q23.2 microdeletion syndrome +Is 17q23.1q23.2 microdeletion syndrome inherited ?,"Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.",GARD,17q23.1q23.2 microdeletion syndrome +How to diagnose 17q23.1q23.2 microdeletion syndrome ?,How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).,GARD,17q23.1q23.2 microdeletion syndrome +What is (are) Glycogen storage disease type 4 ?,"Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.",GARD,Glycogen storage disease type 4 +What are the symptoms of Glycogen storage disease type 4 ?,"What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a ""classic"" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease. There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure. A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Ascites 90% Hepatic failure 90% Muscular hypotonia 90% Hypertrophic cardiomyopathy 7.5% Autosomal recessive inheritance - Cardiomyopathy - Cirrhosis - Decreased fetal movement - Edema - Esophageal varix - Failure to thrive - Hepatosplenomegaly - Hydrops fetalis - Muscle weakness - Polyhydramnios - Portal hypertension - Skeletal muscle atrophy - Tubulointerstitial fibrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Glycogen storage disease type 4 +What causes Glycogen storage disease type 4 ?,"What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of ""branches"" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition.",GARD,Glycogen storage disease type 4 +Is Glycogen storage disease type 4 inherited ?,"How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.",GARD,Glycogen storage disease type 4 +What are the treatments for Glycogen storage disease type 4 ?,"How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.",GARD,Glycogen storage disease type 4 +What are the symptoms of Gollop Coates syndrome ?,"What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Gollop Coates syndrome +What is (are) Antley Bixler syndrome ?,"Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.",GARD,Antley Bixler syndrome +What are the symptoms of Antley Bixler syndrome ?,"What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Antley Bixler syndrome +What is (are) Nephrogenic diabetes insipidus ?,"Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.",GARD,Nephrogenic diabetes insipidus +What are the symptoms of Nephrogenic diabetes insipidus ?,"What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Constipation - Diabetes insipidus - Failure to thrive - Feeding difficulties in infancy - Hypernatremia - Hypertonic dehydration - Intellectual disability - Irritability - Megacystis - Neonatal onset - Polydipsia - Polyuria - Seizures - Short stature - Unexplained fevers - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Nephrogenic diabetes insipidus +What causes Nephrogenic diabetes insipidus ?,"What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. Acquired nephrogenic diabetes insipidus can occur at any time during life. The hereditary form of nephrogenic diabetes insipidus is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.",GARD,Nephrogenic diabetes insipidus +Is Nephrogenic diabetes insipidus inherited ?,"How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GARD,Nephrogenic diabetes insipidus +How to diagnose Nephrogenic diabetes insipidus ?,Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.,GARD,Nephrogenic diabetes insipidus +What are the treatments for Nephrogenic diabetes insipidus ?,"How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. The basis of management involves free access to drinking water and toilet facilities. Polyuria and polydipsia can be reduced up to 50% without disrupting appropriate levels of sodium in the blood through the use of thiazide diuretics hydrochlorothiazide, chlorothiazide) and/or other diuretics (i.e., potassium-sparing diuretic amiloride), dietary restriction of sodium, and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin, which can potentially improve the ability of the body to concentrate urine and reduce urine output.",GARD,Nephrogenic diabetes insipidus +What is (are) Left ventricular noncompaction ?,"Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.",GARD,Left ventricular noncompaction +What are the symptoms of Waardenburg syndrome type 2A ?,"What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterochromia iridis - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Premature graying of hair - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Waardenburg syndrome type 2A +What is (are) Spinocerebellar ataxia 3 ?,"Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).",GARD,Spinocerebellar ataxia 3 +What are the symptoms of Spinocerebellar ataxia 3 ?,"What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Ataxia 57/57 Gaze-evoked nystagmus 15/20 External ophthalmoplegia 34/57 Dysarthria 30/57 Spasticity 62/139 Dystonia 17/57 Fasciculations 12/57 Parkinsonism 3/57 Absent Achilles reflex - Autosomal dominant inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Chronic pain - Dementia - Dilated fourth ventricle - Diplopia - Distal amyotrophy - Dysmetric saccades - Dysphagia - Facial-lingual fasciculations - Genetic anticipation - Gliosis - Impaired horizontal smooth pursuit - Limb ataxia - Muscle cramps - Postural instability - Progressive - Progressive cerebellar ataxia - Proptosis - Ptosis - Rigidity - Spinocerebellar tract degeneration - Supranuclear ophthalmoplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Spinocerebellar ataxia 3 +What is (are) Koolen de Vries syndrome ?,"Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.",GARD,Koolen de Vries syndrome +What are the symptoms of Koolen de Vries syndrome ?,"What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Generalized hypotonia 90% Abnormality of hair texture 75% Feeding difficulties in infancy 75% High palate 75% Joint hypermobility 75% Narrow palate 75% Nasal speech 75% Prominent fingertip pads 75% Long face 74% Cryptorchidism 71% Arachnodactyly 61% Seizures 55% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the corpus callosum 50% Blepharophimosis 50% Broad forehead 50% Bulbous nose 50% Coarse facial features 50% Conspicuously happy disposition 50% Delayed speech and language development 50% Displacement of the external urethral meatus 50% Epicanthus 50% High forehead 50% High, narrow palate 50% Hypermetropia 50% Hypopigmentation of hair 50% Macrotia 50% Microdontia 50% Neurological speech impairment 50% Overfolded helix 50% Pear-shaped nose 50% Ptosis 50% Strabismus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Broad chin 42% Hip dislocation 33% Hip dysplasia 33% Hypotrophy of the small hand muscles 33% Kyphosis 33% Narrow palm 33% Positional foot deformity 33% Scoliosis 33% Abnormality of dental enamel 7.5% Abnormality of the aortic valve 7.5% Cataract 7.5% Cleft palate 7.5% Dry skin 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Microcephaly 7.5% Pectus excavatum 7.5% Prominent nasal bridge 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Short stature 7.5% Small for gestational age 7.5% Underdeveloped nasal alae 7.5% Vesicoureteral reflux 7.5% Wide nasal bridge 7.5% Aortic dilatation 5% Hypotelorism 5% Prominent metopic ridge 5% Spondylolisthesis 5% Vertebral fusion 5% Anteverted ears - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Cleft upper lip - Contiguous gene syndrome - Eczema - Failure to thrive - Hydronephrosis - Intellectual disability - Intrauterine growth retardation - Open mouth - Poor speech - Pulmonic stenosis - Sacral dimple - Sporadic - Variable expressivity - Ventricular septal defect - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Koolen de Vries syndrome +How to diagnose Koolen de Vries syndrome ?,"How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cannot be diagnosed by traditional chromosome tests (karyotype) that look at chromosome banding patterns under the microscope because the deletion is too small to be detected.",GARD,Koolen de Vries syndrome +What are the symptoms of Beardwell syndrome ?,"What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",GARD,Beardwell syndrome +What is (are) Immunotactoid glomerulopathy ?,"Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron microscopy, immunotactoid glomerulopathy is characterized by the formation of microtubules which are much larger than the fibrils observed in fibrillary glomerulonephritis (30 to 50 versus 16 to 24 nm in diameter). The signs and symptoms include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease. Also, patients with immunotactoid glomerulopathy have a greater risk to have chronic lymphocytic leukemia and B cell lymphomas and should be screened for all of these conditions. Treatment is generally determined by the severity of the kidney problems.",GARD,Immunotactoid glomerulopathy +What is (are) Parasites - Ascariasis ?,Ascaris is an intestinal parasite of humans. It is the most common human worm infection. The larvae and adult worms live in the small intestine and can cause intestinal disease.,CDC,Parasites - Ascariasis +Who is at risk for Parasites - Ascariasis? ?,"Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. + Geographic Distribution + +The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. Infection occurs worldwide and is most common in tropical and subtropical areas where sanitation and hygiene are poor.",CDC,Parasites - Ascariasis +How to diagnose Parasites - Ascariasis ?,"The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.",CDC,Parasites - Ascariasis +What are the treatments for Parasites - Ascariasis ?,"Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Ascariasis +How to prevent Parasites - Ascariasis ?,"The best way to prevent ascariasis is to always: + + - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. + - Wash your hands with soap and warm water before handling food. + - Teach children the importance of washing hands to prevent infection. + - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. + + +More on: Handwashing + +Transmission of infection to others can be prevented by + + - Not defecating outdoors. + - Effective sewage disposal systems. + + +More on: Handwashing",CDC,Parasites - Ascariasis +What are the symptoms of Ehrlichiosis ?,"Symptoms + +In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. In addition, a third Ehrlichia species provisionally called Ehrlichia muris-like (EML) has been identified in a small number of patients residing in or traveling to Minnesota and Wisconsin; a tick vector for the EML organism has not yet been established. The symptoms caused by infection with these Ehrlichia species usually develop 1-2 weeks after being bitten by an infected tick. The tick bite is usually painless, and about half of the people who develop ehrlichiosis may not even remember being bitten by a tick. + + The following is a list of symptoms commonly seen with this disease, however, it is important to note that the combination of symptoms varies greatly from person to person. + + - Fever + - Headache + - Chills + - Malaise + - Muscle pain + - Nausea / Vomiting / Diarrhea + - Confusion + - Conjunctival injection (red eyes) + - Rash (in up to 60% of children, less than 30% of adults) + + +Ehrlichiosis is a serious illness that can be fatal if not treated correctly, even in previously healthy people. Severe clinical presentations may include difficulty breathing, or bleeding disorders. The estimated case fatality rate (i.e. the proportion of persons who die as a result of their infection) is 1.8%. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. + + +Rash + +Skin rash is not considered a common feature of ehrlichiosis, and should not be used to rule in or rule out an infection. Ehrlichia chaffeensis infection can cause a rash in up to 60% of children, but is reported in fewer than 30% of adults. Rash is not commonly reported in patients infected with Ehrlichia ewingii or the Ehrlichia muris-like organism. The rash associated with Ehrlichia chaffeensis infection may range from maculopapular to petechial in nature, and is usually not pruritic (itchy). The rash usually spares the face, but in some cases may spread to the palms and soles. A type of rash called erythroderma may develop in some patients. Erythroderma is a type of rash that resembles a sunburn and consists of widespread reddening of the skin that may peel after several days. Some patients may develop a rash that resembles the rash of Rocky Mountain spotted fever making these two diseases difficult to differentiate on the basis of clinical signs alone. + + +Immune-compromised Individuals + +The severity of ehrlichiosis may depend in part on the immune status of the patient. Persons with compromised immunity caused by immunosuppressive therapies (e.g., corticosteroids , cancer chemotherapy, or longterm immunosuppressive therapy following organ transplant), HIV infection, or splenectomy appear to develop more severe disease, and may also have higher case-fatality rates (i.e. the proportion of patients that die from infection.) + + +Blood Transfusion and Organ Transplant Risks Associated with Ehrlichia species + +Because Ehrlichia organisms infect the white blood cells and circulate in the blood stream, these pathogens may pose a risk to be transmitted through blood transfusions. Ehrlichia chaffeensis has been shown to survive for more than a week in refrigerated blood. Several instances of suspected E. chaffeensis transmission through solid organ transplant have been investigated, although to date no cases have been confirmed that can be attributed to this route of transmission. Patients who develop ehrlichiosis within a month of receiving a blood transfusion or solid organ transplant should be reported to state health officials for prompt investigation. Use of leukoreduced blood products may theoretically decrease the risk of transfusion-associated transmission of these pathogens. However, the filtration process does not remove all leukocytes or bacteria not associated with leukocytes from leukoreduced blood; therefore, this process may not eliminate the risk completely. + +For more in-depth information about signs and symptoms of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Diagnosis + + + +The diagnosis of ehrlichiosis must be made based on clinical signs and symptoms, and can later be confirmed using specialized confirmatory laboratory tests. Treatment should never be delayed pending the receipt of laboratory test results, or be withheld on the basis of an initial negative laboratory result. +Physician Diagnosis + +There are several aspects of ehrlichiosis that make it challenging for healthcare providers to diagnose and treat. The symptoms vary from patient to patient and can be difficult to distinguish from other diseases. Treatment is more likely to be effective if started early in the course of disease. Diagnostic tests based on the detection of antibodies will frequently be negative in the first 7-10 days of illness. + +For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to areas where ticks are likely to be found, or history of recent travel to areas where ehrlichiosis is endemic can be helpful in making the diagnosis. The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low white blood cell count (leukopenia), or elevated liver enzyme levels are helpful predictors of ehrlichiosis, but may not be present in all patients depending on the course of the disease. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of ehrlichiosis. + + +Laboratory Detection + +During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has ehrlichiosis. This method is most sensitive in the first week of illness, and quickly decreases in sensitivity following the administration of appropriate antibiotics. Although a positive PCR result is helpful, a negative result does not completely rule out the diagnosis. + +During the first week of illness a microscopic examination of blood smears (known as a peripheral blood smear) may reveal morulae (microcolonies of ehrlichiae) in the cytoplasm of white blood cells in up to 20% of patients. + + + + + +The type of blood cell in which morulae are observed may provide insight into the infecting species: E. chaffeensis most commonly infects monocytes, whereas E. ewingii more commonly infect granulocytes. However, the observance of morulae in a particular cell type cannot conclusively identify the infecting species. Culture isolation of Ehrlichia is only available at specialized laboratories; routine hospital blood cultures cannot detect Ehrlichia. + +When a person develops ehrlichiosis, their immune system produces antibodies to the Ehrlichia, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out ehrlichiosis as a cause of illness. + +The gold standard serologic test for diagnosis of ehrlichiosis is the indirect immunofluorescence assay (IFA) using E. chaffeensis antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of ehrlichiosis, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. + +Serologic tests based on enzyme immunoassay (EIA) technology are available from some commercial laboratories. However, EIA tests are qualitative rather than quantitative, meaning they only provide a positive/negative result, and are less useful to measure changes in antibody titers between paired specimens. Furthermore, some EIA assays rely on the evaluation of IgM antibody alone, which may have a higher frequency of false positive results. + +Antibodies to E. chaffeensis may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Up to 12% of currently healthy people in some areas may have elevated antibody titers due to past exposure to Ehrlichia species or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, while paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of ehrlichiosis. + +For more in-depth information about the diagnosis of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Treatment + +Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever ehrlichiosis is suspected. + +Use of antibiotics other than doxycycline and other tetracyclines is associated with a higher risk of fatal outcome for some rickettsial infections. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return. + +If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to ehrlichiosis. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course have not been documented. + +Recommended Dosage + +Doxycycline is the first line treatment for adults and children of all ages: + + - Adults: 100 mg every 12 hours + - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day + + +Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7 to 14 days. Some patients may continue to experience headache, weakness and malaise for weeks after adequate treatment. + + +Treating children + +The use of doxycycline to treat suspected ehrlichiosis in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Unlike older generations of tetracyclines, the recommended dose and duration of medication needed to treat ehrlichiosis has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected ehrlichiosis in patients of all ages. + + +Other Treatments + +In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of ehrlichiosis appears mild, physicians may need to consider alternate antibiotics. Although recommended as a second-line therapeutic alternative to treat Rocky Mountain spotted fever (RMSF), chloramphenicol is not recommended for the treatment of either ehrlichiosis or anaplasmosis, as studies have shown a lack of efficacy. Rifampin appears effective against Ehrlichia in laboratory settings. However, rifampin is not effective in treating RMSF, a disease that may be confused with ehrlichiosis. Healthcare providers should be cautious when exploring treatments other than doxycycline, which is highly effective in treating both. Other antibiotics, including broad spectrum antibiotics are not considered highly effective against ehrlichiosis, and the use of sulfa drugs during acute illness may worsen the severity of infection. + + +Prophylaxis (Preventive Treatment) + +Antibiotic treatment following a tick bite is not recommended as a means to prevent ehrlichiosis. There is no evidence this practice is effective, and this may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. + +For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Other Considerations + +The clinical presentation for ehrlichiosis can resemble other tickborne diseases, such as Rocky Mountain spotted fever and anaplasmosis. Similar to ehrlichiosis, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm",CDC,Ehrlichiosis +What is (are) Ehrlichiosis ?,"More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. + +*Case definitions have been updated since publication +How to Contact the Rickettsial Zoonoses Branch at CDC + +The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding ehrlichiosis. If a consultation with a CDC scientist specializing in ehrlichiosis is advised, your call will be appropriately forwarded. + + +Case Definitions + +As of January 1, 2008, E. chaffeensis and E. ewingii infections are reported under distinct reporting categories. + +2008 Case Definition + + +Case Report Forms + +For confirmed and probable cases of ehrlichiosis that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. + +2010 CDC Case Report Form: Tickborne Rickettsial Diseases (2010 version) (PDF – 982kb; 3 pages) + + +How to Submit Specimens to CDC for Ehrlichiosis Testing + +Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. +State Health Departments: + +Specimens may be submitted to CDC for testing for ehrlichiosis. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). + + +U.S. Healthcare Providers: + +U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of infection. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect ehrlichiosis case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on ehrlichiosis may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. +Non U.S. Healthcare Providers: + +Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect ehrlichiosis case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.",CDC,Ehrlichiosis +"What is (are) Parasites - Lice - Pubic ""Crab"" Lice ?","Also called crab lice or ""crabs,"" pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society.",CDC,"Parasites - Lice - Pubic ""Crab"" Lice" +"Who is at risk for Parasites - Lice - Pubic ""Crab"" Lice? ?","Pubic (""crab"") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed linens, and towels that have been used by an infested person. Pubic lice found on the head or eyelashes of children may be an indication of sexual exposure or abuse. + +Pubic lice do not transmit disease; however, secondary bacterial infection can occur from scratching of the skin.",CDC,"Parasites - Lice - Pubic ""Crab"" Lice" +"How to diagnose Parasites - Lice - Pubic ""Crab"" Lice ?","Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.",CDC,"Parasites - Lice - Pubic ""Crab"" Lice" +"What are the treatments for Parasites - Lice - Pubic ""Crab"" Lice ?","A lice-killing lotion containing 1% permethrin or a mousse containing pyrethrins and piperonyl butoxide can be used to treat pubic (""crab"") lice. These products are available over-the-counter without a prescription at a local drug store or pharmacy. These medications are safe and effective when used exactly according to the instructions in the package or on the label. + +Lindane shampoo is a prescription medication that can kill lice and lice eggs. However, lindane is not recommended as a first-line therapy. Lindane can be toxic to the brain and other parts of the nervous system; its use should be restricted to patients who have failed treatment with or cannot tolerate other medications that pose less risk. Lindane should not be used to treat premature infants, persons with a seizure disorder, women who are pregnant or breast-feeding, persons who have very irritated skin or sores where the lindane will be applied, infants, children, the elderly, and persons who weigh less than 110 pounds. + +Malathion* lotion 0.5% (Ovide*) is a prescription medication that can kill lice and some lice eggs; however, malathion lotion (Ovide*) currently has not been approved by the U.S. Food and Drug Administration (FDA) for treatment of pubic (""crab"") lice. + +Both topical and oral ivermectin have been used successfully to treat lice; however, only topical ivermectin lotion currently is approved by the U.S. Food and Drug Administration (FDA) for treatment of lice. Oral ivermectin is not FDA-approved for treatment of lice. + +How to treat pubic lice infestations: (Warning: See special instructions for treatment of lice and nits on eyebrows or eyelashes. The lice medications described in this section should not be used near the eyes.) + + + + + - Wash the infested area; towel dry. + - Carefully follow the instructions in the package or on the label. Thoroughly saturate the pubic hair and other infested areas with lice medication. Leave medication on hair for the time recommended in the instructions. After waiting the recommended time, remove the medication by following carefully the instructions on the label or in the box. + - Following treatment, most nits will still be attached to hair shafts. Nits may be removed with fingernails or by using a fine-toothed comb. + - Put on clean underwear and clothing after treatment. + - To kill any lice or nits remaining on clothing, towels, or bedding, machine-wash and machine-dry those items that the infested person used during the 2–3 days before treatment. Use hot water (at least 130°F) and the hot dryer cycle. + - Items that cannot be laundered can be dry-cleaned or stored in a sealed plastic bag for 2 weeks. + - All sex partners from within the previous month should be informed that they are at risk for infestation and should be treated. + - Persons should avoid sexual contact with their sex partner(s) until both they and their partners have been successfully treated and reevaluated to rule out persistent infestation. + - Repeat treatment in 9–10 days if live lice are still found. + - Persons with pubic lice should be evaluated for other sexually transmitted diseases (STDs). + + +Special instructions for treatment of lice and nits found on eyebrows or eyelashes: + + - If only a few live lice and nits are present, it may be possible to remove these with fingernails or a nit comb. + - If additional treatment is needed for lice or nits on the eyelashes, careful application of ophthalmic-grade petrolatum ointment (only available by prescription) to the eyelid margins 2–4 times a day for 10 days is effective. Regular petrolatum (e.g., Vaseline)* should not be used because it can irritate the eyes if applied. + + +*Use of trade names is for identification purposes only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services. + + +This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.",CDC,"Parasites - Lice - Pubic ""Crab"" Lice" +"How to prevent Parasites - Lice - Pubic ""Crab"" Lice ?","Pubic (""crab"") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. + +The following are steps that can be taken to help prevent and control the spread of pubic (""crab"") lice: + + - All sexual contacts of the infested person should be examined. All those who are infested should be treated. + - Sexual contact between the infested person(s)s and their sexual partner(s) should be avoided until all have been examined, treated as necessary, and reevaluated to rule out persistent infestation. + - Machine wash and dry clothing worn and bedding used by the infested person in the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. + - Do not share clothing, bedding, and towels used by an infested person. + - Do not use fumigant sprays or fogs; they are not necessary to control pubic (""crab"") lice and can be toxic if inhaled or absorbed through the skin. + + +Persons with pubic lice should be examined and treated for any other sexually transmitted diseases (STDs) that may be present.",CDC,"Parasites - Lice - Pubic ""Crab"" Lice" +What is (are) ?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +what is vancomycin-resistant enterococci?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +what types of infections does vancomycin-resistant enterococci cause?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +are certain people at risk of getting vancomycin-resistant enterococci?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +what is the treatment for vancomycin-resistant enterococci?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +how can patients prevent the spread of vancomycin-resistant enterococci?,"On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006",CDC, +What is (are) Parasites - Enterobiasis (also known as Pinworm Infection) ?,"A pinworm (""threadworm"") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surrounding skin.",CDC,Parasites - Enterobiasis (also known as Pinworm Infection) +Who is at risk for Parasites - Enterobiasis (also known as Pinworm Infection)? ?,"Risk Factors + +The people most likely to be infected with pinworm are children under 18, people who take care of infected children and people who are institutionalized. In these groups, the prevalence can reach 50%. + +Pinworm is the most common worm infection in the United States. Humans are the only species that can transfer this parasite. Household pets like dogs and cats cannot become infected with human pinworms. Pinworm eggs can survive in the indoor environment for 2 to 3 weeks. + Epidemiology + +Pinworm infections are more common within families with school-aged children, in primary caregivers of infected children, and in institutionalized children. + +A person is infected with pinworms by ingesting pinworm eggs either directly or indirectly. These eggs are deposited around the anus by the worm and can be carried to common surfaces such as hands, toys, bedding, clothing, and toilet seats. By putting anyone’s contaminated hands (including one’s own) around the mouth area or putting one’s mouth on common contaminated surfaces, a person can ingest pinworm eggs and become infected with the pinworm parasite. Since pinworm eggs are so small, it is possible to ingest them while breathing. + +Once someone has ingested pinworm eggs, there is an incubation period of 1 to 2 months or longer for the adult gravid female to mature in the small intestine. Once mature, the adult female worm migrates to the colon and lays eggs around the anus at night, when many of their hosts are asleep. People who are infected with pinworm can transfer the parasite to others for as long as there is a female pinworm depositing eggs on the perianal skin. A person can also re-infect themselves, or be re-infected by eggs from another person.",CDC,Parasites - Enterobiasis (also known as Pinworm Infection) +How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ?,"A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the perianal skin with transparent tape to collect possible pinworm eggs around the anus first thing in the morning. If a person is infected, the eggs on the tape will be visible under a microscope. The tape method should be conducted on 3 consecutive mornings right after the infected person wakes up and before he/she does any washing. Since anal itching is a common symptom of pinworm, the third option for diagnosis is analyzing samples from under fingernails under a microscope. An infected person who has scratched the anal area may have picked up some pinworm eggs under the nails that could be used for diagnosis. + +Since pinworm eggs and worms are often sparse in stool, examining stool samples is not recommended. Serologic tests are not available for diagnosing pinworm infections.",CDC,Parasites - Enterobiasis (also known as Pinworm Infection) +What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ?,"The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore, the second dose is to prevent re-infection by adult worms that hatch from any eggs not killed by the first treatment.Health practitioners and parents should weigh the health risks and benefits of these drugs for patients under 2 years of age. + +Repeated infections should be treated by the same method as the first infection. In households where more than one member is infected or where repeated, symptomatic infections occur, it is recommended that all household members be treated at the same time. In institutions, mass and simultaneous treatment, repeated in 2 weeks, can be effective.",CDC,Parasites - Enterobiasis (also known as Pinworm Infection) +How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ?,"Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of the eggs on the skin. Showering is a better method than taking a bath, because showering avoids potentially contaminating the bath water with pinworm eggs. Infected people should not co-bathe with others during their time of infection. + +Also, infected people should comply with good hygiene practices such as washing their hands with soap and warm water after using the toilet, changing diapers, and before handling food. They should also cut fingernails regularly, and avoid biting the nails and scratching around the anus. Frequent changing of underclothes and bed linens first thing in the morning is a great way to prevent possible transmission of eggs in the environment and risk of reinfection. These items should not be shaken and carefully placed into a washer and laundered in hot water followed by a hot dryer to kill any eggs that may be there. + +In institutions, day care centers, and schools, control of pinworm can be difficult, but mass drug administration during an outbreak can be successful. Teach children the importance of washing hands to prevent infection. + +More on: Handwashing",CDC,Parasites - Enterobiasis (also known as Pinworm Infection) +How to prevent La Crosse Encephalitis ?,"There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. + + - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin as well as on clothing (mosquitoes will bite through thin cloth). + + - Permethrin is a repellent/insecticide that can be applied to clothing and will provide excellent protection through multiple washes. You can treat clothing yourself (always follow the directions on the package!) or purchase pre-treated clothing. For best protection it is still necessary to apply other repellent to exposed skin. + + - Wear protective clothing: Wear long sleeves, pants and socks when weather permits. + - Avoid peak biting hours: Avoid outdoor activity or use protective measures when mosquitoes are active (Aedes triseriatus mosquitoes are most active during daytime—from dawn until dusk). + - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out. + - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. While Aedes triseriatus prefers treeholes, it will also lay eggs in artificial containers. You can fill treeholes in/around your yard with soil. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use. +",CDC,La Crosse Encephalitis +Who is at risk for Omsk Hemorrhagic Fever (OHF)? ?,"Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection. + +Transmission may also occur with no direct tick or rodent exposure as OHFV appears to be extremely stable in different environments. It has been isolated from aquatic animals and water and there is even evidence that OHFV can be transmitted through the milk of infected goats or sheep to humans. + +No human-to-human transmission of OHFV has been documented but infections due to lab contamination have been described.",CDC,Omsk Hemorrhagic Fever (OHF) +What are the symptoms of Omsk Hemorrhagic Fever (OHF) ?,"After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts. + +After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain). + +The case fatality rate of OHF is low (0.5% to 3%).",CDC,Omsk Hemorrhagic Fever (OHF) +Who is at risk for Omsk Hemorrhagic Fever (OHF)? ?,"In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. Furthermore, those in Siberia who hunt and trap muskrats specifically are at higher risk for OHF. + +Exposure may also occur in the laboratory environment.",CDC,Omsk Hemorrhagic Fever (OHF) +How to diagnose Omsk Hemorrhagic Fever (OHF) ?,OHF virus may be detected in blood samples by virus isolation in cell culture or using molecular techniques such as PCR. Blood samples can also be tested for antibody presence using enzyme-linked immunosorbent seologic assay (ELISA).,CDC,Omsk Hemorrhagic Fever (OHF) +What are the treatments for Omsk Hemorrhagic Fever (OHF) ?,"There is no specific treatment for OHF, but supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders. + +Though rare, OHF can cause hearing loss, hair loss, and behavioral or psychological difficulties associated with neurological conditions and long term supportive case may be needed.",CDC,Omsk Hemorrhagic Fever (OHF) +How to prevent Omsk Hemorrhagic Fever (OHF) ?,"There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups. + +Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommended.",CDC,Omsk Hemorrhagic Fever (OHF) +What is (are) Parasites - American Trypanosomiasis (also known as Chagas Disease) ?,"Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis. +It is estimated that as many as 8 million people in Mexico, Central America, and South America have Chagas disease, most of whom do not know they are infected. If untreated, infection is lifelong and can be life threatening. +The impact of Chagas disease is not limited to the rural areas in Latin America in which vectorborne transmission occurs. Large-scale population movements from rural to urban areas of Latin America and to other regions of the world have increased the geographic distribution and changed the epidemiology of Chagas disease. In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies should focus on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby (congenital transmission).",CDC,Parasites - American Trypanosomiasis (also known as Chagas Disease) +Who is at risk for Parasites - American Trypanosomiasis (also known as Chagas Disease)? ?,"Chagas disease, or American trypanosomiasis, is caused by the parasite Trypanosoma cruzi. Infection is most commonly acquired through contact with the feces of an infected triatomine bug (or ""kissing bug""), a blood-sucking insect that feeds on humans and animals. + +Infection can also occur from: + + - mother-to-baby (congenital), + - contaminated blood products (transfusions), + - an organ transplanted from an infected donor, + - laboratory accident, or + - contaminated food or drink (rare) + + +Chagas disease is endemic throughout much of Mexico, Central America, and South America where an estimated 8 million people are infected. The triatomine bug thrives under poor housing conditions (for example, mud walls, thatched roofs), so in endemic countries, people living in rural areas are at greatest risk for acquiring infection. Public health efforts aimed at preventing transmission have decreased the number of newly infected people and completely halted vectorborne transmission in some areas. Infection acquired from blood products, organ transplantation, or congenital transmission continues to pose a threat. + +By applying published seroprevalence figures to immigrant populations, CDC estimates that more than 300,000 persons with Trypanosoma cruzi infection live in the United States. Most people with Chagas disease in the United States acquired their infections in endemic countries. Although there are triatomine bugs in the U.S. , only rare vectorborne cases of Chagas disease have been documented. + +More on: Triatomine Bugs",CDC,Parasites - American Trypanosomiasis (also known as Chagas Disease) +How to diagnose Parasites - American Trypanosomiasis (also known as Chagas Disease) ?,"The diagnosis of Chagas disease can be made by observation of the parasite in a blood smear by microscopic examination. A thick and thin blood smear are made and stained for visualization of parasites. However, a blood smear works well only in the acute phase of infection when parasites are seen circulating in blood. + +Diagnosis of chronic Chagas disease is made after consideration of the patient's clinical findings, as well as by the likelihood of being infected, such as having lived in an endemic country. Diagnosis is generally made by testing with at least two different serologic tests.",CDC,Parasites - American Trypanosomiasis (also known as Chagas Disease) +What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ?,"Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment. + +For cardiac or gastrointestinal problems resulting from Chagas disease, symptomatic treatment may be helpful. Patients should consult with their primary health care provider. Some patients may be referred to a specialist, such as a cardiologist, gastroenterologist, or infectious disease specialist. + +In the U.S., medication for Chagas is available only through CDC. Your health care provider can talk with CDC staff about whether and how you should be treated. + +More on: Resources for Health Professionals: Antiparasitic Treatment",CDC,Parasites - American Trypanosomiasis (also known as Chagas Disease) +How to prevent Parasites - American Trypanosomiasis (also known as Chagas Disease) ?,"In endemic areas of Mexico, Central America, and South America improved housing and spraying insecticide inside housing to eliminate triatomine bugs has significantly decreased the spread of Chagas disease. Further, screening of blood donations for Chagas is another important public health tool in helping to prevent transfusion-acquired disease. Early detection and treatment of new cases, including mother-to-baby (congenital) cases, will also help reduce the burden of disease. + +In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies are focused on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby.",CDC,Parasites - American Trypanosomiasis (also known as Chagas Disease) +What is (are) Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?,Angiostrongylus cantonensis is a parasitic worm of rats. It is also called the rat lungworm. The adult form of the parasite is found only in rodents. Infected rats pass larvae of the parasite in their feces. Snails and slugs get infected by ingesting the larvae. These larvae mature in snails and slugs but do not become adult worms. The life cycle is completed when rats eat infected snails or slugs and the larvae further mature to become adult worms.,CDC,Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) +Who is at risk for Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection)? ?,"Angiostrongylus cantonensis + +Angiostrongylus cantonensis, also known as the rat lungworm, is a parasitic nematode (worm) that is transmitted between rats and mollusks (such as slugs or snails) in its natural life cycle. Other animals that become infected such as freshwater shrimp, land crabs, frogs, and planarians of the genus Platydemus, are transport hosts that are not required for reproduction of the parasite but might be able to transmit infection to humans if eaten raw or undercooked. Humans are accidental hosts who do not transmit infection to others. Most cases of infection are diagnosed in Southeast Asia and the Pacific Basin, but the parasite has also been found in Australia, some areas of Africa, the Caribbean, Hawaii and Louisiana. Outbreaks of human angiostrongyliasis have involved a few to hundreds of persons; over 2,800 cases have been reported in the literature from approximately 30 countries. It is likely that the parasite has been spread by rats transported on ships and by the introduction of mollusks such as the giant African land snail (Achatina fulica). In addition, the semi-slug, Parmarion martensi (native of Southeast Asia)has spread in regions of Hawaii and is found to often be infected with A. cantonensis, and the freshwater snail Pomacea canaliculata (native of South America) has been introduced into Taiwan and China and has been implicated in outbreaks of disease in those countries. + +Risk factors for infection with A. cantonensis include the ingestion of raw or undercooked infected snails or slugs; or pieces of snails and slugs accidentally chopped up in vegetables, vegetable juices, or salads; or foods contaminated by the slime of infected snails or slugs. It is possible that ingestion of raw or undercooked transport hosts (freshwater shrimp, land crabs, frogs, etc. ) can result in human infection, though this is less certain. In addition, contamination of the hands during the preparation of uncooked infected snails or slugs could lead to ingestion of the parasite. + + + Angiostrongylus costaricensis + +Angiostrongylus costaricensis is a parasitic nematode (worm) that resides in rodents and uses mollusks, such as slugs, as an intermediate host. Rats, such as the cotton rat, transmit the larvae through their feces. Slugs then ingest the larvae. Humans are accidental hosts of the parasite. The parasite is not able to complete its life cycle in humans and eventually dies in the abdomen. Human infection principally occurs in Latin America and the Caribbean, with a few cases suspected in the United States and in the Republic of Congo. The organism is also found in animals in the Southern U.S. (Texas). + +Risk factors for infection with A. costaricensis are not well established but are likely to be ingestion of infected slugs or raw vegetables or vegetable juices contaminated with slugs or their slime, which can contain A. costaricensis larvae. The infection of transport hosts, which are not essential to the lifecycle of the parasite, has not been identified and any role in human infection is not known, in contrast to A. cantonensis. Some reports have shown the case rate to be higher in children 6 to 12 years of age, males, and in persons of higher socioeconomic status. There has been one food-related outbreak in Guatemala that affected primarily adults.",CDC,Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) +How to diagnose Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?,"Angiostrongylus cantonensis + +Diagnosing A. cantonensis infections can be difficult, in part because there are no readily available blood tests. Important clues that could lead to the diagnosis of infection are a history of travel to where the parasite is known to be found and ingestion of raw or undercooked snails, slugs, or possibly transport hosts (such as frogs, fresh water shrimp or land crabs) in those areas. A high level of eosinophils, a blood cell that can be elevated in the presence of a parasite, in the blood or in the fluid that surrounds the brain can be another important clue. Persons worried that they might be infected should consult their health care provider. + + + Angiostrongylus costaricensis + +Diagnosing A. costaricensis infections can be difficult, in part because there are no readily available blood tests. Important clues that could lead to the diagnosis of infection are a history of travel to where the parasite is known to be found and ingestion of raw or undercooked slugs or food contaminated by infected slugs or their slime. A high blood level of eosinophils, a blood cell that can be elevated in the presence of a parasite, can be another important clue. Persons worried that they might be infected should consult their health care provider.",CDC,Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) +What are the treatments for Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?,"Angiostrongylus cantonensis + +There is no specific treatment for A. cantonensis infection. There is some evidence that certain supportive treatments may reduce the severity of headache and the duration of symptoms. Persons with symptoms should consult their health care provider for more information. + Angiostrongylus costaricensis + +There is no specific treatment for A. costaricensis infections. Most infections resolve spontaneously though sometime surgical treatment is necessary to removed portions of inflamed intestine. Persons with symptoms should consult their health care provider for more information.",CDC,Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) +How to prevent Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ?,"Angiostrongylus cantonensis + +Prevention of A. cantonensis infections involves educating persons residing in or traveling to areas where the parasite is found about not ingesting raw or undercooked snails and slugs, freshwater shrimp, land crabs, frogs, and monitor lizards, or potentially contaminated vegetables, or vegetable juice. Removing snails, slugs, and rats found near houses and gardens should also help reduce risk. Thoroughly washing hands and utensils after preparing raw snails or slugs is also recommended. Vegetables should be thoroughly washed if eaten raw. + Angiostrongylus costaricensis + +Prevention of A. costaricensis infections involves educating persons residing in and traveling to areas where the parasite is known to be found about not ingesting raw or undercooked slugs or potentially contaminated vegetables or vegetable juices. Removing slugs and rats found near houses and gardens should help reduce risk. Thoroughly washing hands and utensils after preparing raw slugs is also recommended. Vegetables should be thoroughly washed if eaten raw.",CDC,Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) +how is hps diagnosed and treated for Hantavirus ?,"Diagnosing HPS + +Diagnosing HPS in an individual who has only been infected a few days is difficult, because early symptoms such as fever, muscle aches, and fatigue are easily confused with influenza. However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, together with shortness of breath, would be strongly suggestive of HPS. If the individual is experiencing these symptoms they should see their physician immediately and mention their potential rodent exposure. + Treating HPS + + + + + + + +There is no specific treatment, cure, or vaccine for hantavirus infection. However, we do know that if infected individuals are recognized early and receive medical care in an intensive care unit, they may do better. In intensive care, patients are intubated and given oxygen therapy to help them through the period of severe respiratory distress. + +The earlier the patient is brought in to intensive care, the better. If a patient is experiencing full distress, it is less likely the treatment will be effective. + +Therefore, if you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. Be sure to tell your doctor that you have been around rodents—this will alert your physician to look closely for any rodent-carried disease, such as HPS.",CDC,Hantavirus +what are the symptoms for Hantavirus ?,"Due to the small number of HPS cases, the ""incubation time"" is not positively known. However, on the basis of limited information, it appears that symptoms may develop between 1 and 5 weeks after exposure to fresh urine, droppings, or saliva of infected rodents. + Early Symptoms + + + +Early symptoms include fatigue, fever and muscle aches, especially in the large muscle groups—thighs, hips, back, and sometimes shoulders. These symptoms are universal. + +There may also be headaches, dizziness, chills, and abdominal problems, such as nausea, vomiting, diarrhea, and abdominal pain. About half of all HPS patients experience these symptoms. + + Late Symptoms + + + +Four to 10 days after the initial phase of illness, the late symptoms of HPS appear. These include coughing and shortness of breath, with the sensation of, as one survivor put it, a ""...tight band around my chest and a pillow over my face"" as the lungs fill with fluid. + + Is the Disease Fatal? + +Yes. HPS can be fatal. It has a mortality rate of 38%.",CDC,Hantavirus +how can hps be prevented for Hantavirus ?,"Eliminate or minimize contact with rodents in your home, workplace, or campsite. If rodents don't find that where you are is a good place for them to be, then you're less likely to come into contact with them. Seal up holes and gaps in your home or garage. Place traps in and around your home to decrease rodent infestation. Clean up any easy-to-get food. + +Recent research results show that many people who became ill with HPS developed the disease after having been in frequent contact with rodents and/or their droppings around a home or a workplace. On the other hand, many people who became ill reported that they had not seen rodents or rodent droppings at all. Therefore, if you live in an area where the carrier rodents are known to live, try to keep your home, vacation place, workplace, or campsite clean. + +For more information on how you can prevent rodent infestations, the following information is available on the CDC Rodents site:",CDC,Hantavirus +what is the history of hps for Hantavirus ?,"The ""First""Outbreak + +In May 1993, an outbreak of an unexplained pulmonary illness occurred in the southwestern United States, in an area shared by Arizona, New Mexico, Colorado and Utah known as ""The Four Corners"". A young, physically fit Navajo man suffering from shortness of breath was rushed to a hospital in New Mexico and died very rapidly. + + +While reviewing the results of the case, medical personnel discovered that the young man's fiancée had died a few days before after showing similar symptoms, a piece of information that proved key to discovering the disease. As Dr. James Cheek of the Indian Health Service (IHS) noted, ""I think if it hadn't been for that initial pair of people that became sick within a week of each other, we never would have discovered the illness at all"". + +An investigation combing the entire Four Corners region was launched by the New Mexico Office of Medical Investigations (OMI) to find any other people who had a similar case history. Within a few hours, Dr. Bruce Tempest of IHS, working with OMI, had located five young, healthy people who had all died after acute respiratory failure. + +A series of laboratory tests had failed to identify any of the deaths as caused by a known disease, such as bubonic plague. At this point, the CDC Special Pathogens Branch was notified. CDC, the state health departments of New Mexico, Colorado and Utah, the Indian Health Service, the Navajo Nation, and the University of New Mexico all joined together to confront the outbreak. + + +During the next few weeks, as additional cases of the disease were reported in the Four Corners area, physicians and other scientific experts worked intensively to narrow down the list of possible causes. The particular mixture of symptoms and clinical findings pointed researchers away from possible causes, such as exposure to a herbicide or a new type of influenza, and toward some type of virus. Samples of tissue from patients who had gotten the disease were sent to CDC for exhaustive analysis. Virologists at CDC used several tests, including new methods to pinpoint virus genes at the molecular level, and were able to link the pulmonary syndrome with a virus, in particular a previously unknown type of hantavirus. + Researchers Launch Investigations to Pin Down the Carrier of the New Virus + + +Researchers knew that all other known hantaviruses were transmitted to people by rodents, such as mice and rats. Therefore, an important part of their mission was to trap as many different species of rodents living in the Four Corners region as possible to find the particular type of rodent that carried the virus. From June through mid-August of 1993, all types of rodents were trapped inside and outside homes where people who had hantavirus pulmonary syndrome had lived, as well as in piñon groves and summer sheep camps where they had worked. Additional rodents were trapped for comparison in and around nearby households as well. Taking a calculated risk, researchers decided not to wear protective clothing or masks during the trapping process. ""We didn't want to go in wearing respirators, scaring...everybody"", John Sarisky, an Indian Health Service environmental disease specialist said. However, when the almost 1,700 rodents trapped were dissected to prepare samples for analysis at CDC, protective clothing and respirators were worn. + +Among rodents trapped, the deer mouse (Peromyscus maniculatus) was found to be the main host to a previously unknown type of hantavirus. Since the deer mouse often lives near people in rural and semi-rural areas—in barns and outbuildings, woodpiles, and inside people's homes—researchers suspected that the deer mouse might be transmitting the virus to humans. About 30% of the deer mice tested showed evidence of infection with hantavirus. Tests also showed that several other types of rodents were infected, although in lesser numbers. + +The next step was to pin down the connection between the infected deer mice and households where people who had gotten the disease lived. Therefore, investigators launched a case-control investigation. They compared ""case"" households, where people who had gotten the disease lived, with nearby ""control"" households. Control households were similar to those where the case-patients lived, except for one factor: no one in the control households had gotten the disease. + +The results? First, investigators trapped more rodents in case households than in control households, so more rodents may have been living in close contact with people in case households. Second, people in case households were more likely than those in control households to do cleaning around the house or to plant in or hand-plow soil outdoors in fields or gardens. However, it was unclear if the risk for contracting HPS was due to performing these tasks, or with entering closed-up rooms or closets to get tools needed for these tasks. + +In November 1993, the specific hantavirus that caused the Four Corners outbreak was isolated. The Special Pathogens Branch at CDC used tissue from a deer mouse that had been trapped near the New Mexico home of a person who had gotten the disease and grew the virus from it in the laboratory. Shortly afterwards and independently, the U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID) also grew the virus, from a person in New Mexico who had gotten the disease as well as from a mouse trapped in California. + + +The new virus was called Muerto Canyon virus — later changed to Sin Nombre virus (SNV) — and the new disease caused by the virus was named hantavirus pulmonary syndrome, or HPS. + +The isolation of the virus in a matter of months was remarkable. This success was based on close cooperation of all the agencies and individuals involved in investigating the outbreak, years of basic research on other hantaviruses that had been conducted at CDC and USAMRIID, and on the continuing development of modern molecular virologic tests. To put the rapid isolation of the Sin Nombre virus in perspective, it took several decades for the first hantavirus discovered, the Hantaan virus, to be isolated. + + + HPS Not Really a New Disease + +As part of the effort to locate the source of the virus, researchers located and examined stored samples of lung tissue from people who had died of unexplained lung disease. Some of these samples showed evidence of previous infection with Sin Nombre virus—indicating that the disease had existed before the ""first"" known outbreak—it simply had not been recognized! + +Other early cases of HPS have been discovered by examining samples of tissue belonging to people who had died of unexplained adult respiratory distress syndrome. By this method, the earliest known case of HPS that has been confirmed has been the case of a 38-year-old Utah man in 1959. + +Interestingly, while HPS was not known to the epidemiologic and medical communities, there is evidence that it was recognized elsewhere. The Navajo Indians, a number of whom contracted HPS during the 1993 outbreak, recognize a similar disease in their medical traditions, and actually associate its occurrence with mice. As strikingly, Navajo medical beliefs concur with public health recommendations for preventing the disease. + + + Why Did the Outbreak Occur in the Four Corners Area? + +But why this sudden cluster of cases? The key answer to this question is that, during this period, there were suddenly many more mice than usual. The Four Corners area had been in a drought for several years. Then, in early 1993, heavy snows and rainfall helped drought-stricken plants and animals to revive and grow in larger-than-usual numbers. The area's deer mice had plenty to eat, and as a result they reproduced so rapidly that there were ten times more mice in May 1993 than there had been in May of 1992. With so many mice, it was more likely that mice and humans would come into contact with one another, and thus more likely that the hantavirus carried by the mice would be transmitted to humans. + + + Person-to-Person Spread of HPS Decided Unlikely + +""Although person-to-person spread [of HPS] has not been documented with any of the other known hantaviruses, we were concerned [during this outbreak] because we were dealing with a new agent"", said Charles Vitek, a CDC medical investigator. + +Researchers and clinicians investigating the ongoing outbreak were not the only groups concerned about the disease. Shortly after the first few HPS patients died and it became clear that a new disease was affecting people in the area, and that no one knew how it was transmitted, the news media began extensive reporting on the outbreak. Widespread concern among the public ensued. + +Unfortunately, the first victims of the outbreak were Navajo. News reports focused on this fact, and the misperception grew that the unknown disease was somehow linked to Navajos. As a consequence, Navajos found themselves at the center of intense media attention and the objects of the some people's fears. + +By later in the summer of 1993, the media frenzy had quieted somewhat, and the source of the disease was pinpointed. Researchers determined that, like other hantaviruses, the virus that causes HPS is not transmitted from person to person the way other infections, such as the common cold, may be. The exception to this is an outbreak of HPS in Argentina in 1996. Evidence from this outbreak suggests that strains of hantaviruses in South America may be transmissable from person to person. + +To date, no cases of HPS have been reported in the United States in which the virus was transmitted from one person to another. In fact, in a study of health care workers who were exposed to either patients or specimens infected with related types of hantaviruses (which cause a different disease in humans), none of the workers showed evidence of infection or illness. + + + HPS Since the First Outbreak + +After the initial outbreak, the medical community nationwide was asked to report any cases of illness with symptoms similar to those of HPS that could not be explained by any other cause. As a result, additional cases have been reported. + +Since 1993, researchers have discovered that there is not just one hantavirus that causes HPS, but several. In June 1993, a Louisiana bridge inspector who had not traveled to the Four Corners area developed HPS. An investigation was begun. The patient's tissues were tested for the presence of antibodies to hantavirus. The results led to the discovery of another hantavirus, named Bayou virus, which was linked to a carrier, the rice rat (Oryzomys palustris). In late 1993, a 33-year-old Florida man came down with HPS symptoms; he later recovered. This person also had not traveled to the Four Corners area. A similar investigation revealed yet another hantavirus, named the Black Creek Canal virus, and its carrier, the cotton rat (Sigmodon hispidus). Another case occurred in New York. This time, the Sin Nombre-like virus was named New York-1, and the white-footed mouse (Peromyscus leucopus), was implicated as the carrier. + +More recently, cases of HPS stemming from related hantaviruses have been documented in Argentina, Brazil, Canada, Chile, Paraguay, and Uruguay, making HPS a pan-hemispheric disease. + + + References + +Information for this page was developed using the CDC video Preventing Hantavirus Disease and resource articles listed in the bibliography.",CDC,Hantavirus +What is (are) Parasites - Lice - Body Lice ?,"Body lice are parasitic insects that live on clothing and bedding used by infested persons. Body lice frequently lay their eggs on or near the seams of clothing. Body lice must feed on blood and usually only move to the skin to feed. Body lice exist worldwide and infest people of all races. Body lice infestations can spread rapidly under crowded living conditions where hygiene is poor (the homeless, refugees, victims of war or natural disasters). In the United States, body lice infestations are found only in homeless transient populations who do not have access to bathing and regular changes of clean clothes. Infestation is unlikely to persist on anyone who bathes regularly and who has at least weekly access to freshly laundered clothing and bedding.",CDC,Parasites - Lice - Body Lice +Who is at risk for Parasites - Lice - Body Lice? ?,"Body lice infestation is found worldwide but generally is limited to persons who live under conditions of crowding and poor hygiene who do not have access to regular bathing and changes of clean clothes, such as: + + - the homeless, + - refugees, + - survivors of war or natural disasters. + + +Infestations can spread rapidly under such conditions. Body lice infestation can occur in people of all races. + +Body lice are spread through direct contact with a person who has body lice or through contact with articles such as clothing, beds, bed linens, or towels that have been in contact with an infested person. However, in the United States, actual infestation with body lice tends to be occur only in homeless, transient persons who do not have access to regular bathing and changes of clean clothes. + +Body lice can transmit disease. Epidemics of typhus and louse-borne relapsing fever have been caused by body lice (typically in areas where climate, poverty, and social customs or war and social upheaval prevent regular changes and laundering of clothing).",CDC,Parasites - Lice - Body Lice +How to diagnose Parasites - Lice - Body Lice ?,"Body lice infestation is diagnosed by finding eggs and crawling lice in the seams of clothing. Sometimes a body louse can be seen crawling or feeding on the skin. + +Although body lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find crawling lice or eggs.",CDC,Parasites - Lice - Body Lice +What are the treatments for Parasites - Lice - Body Lice ?,"A body lice infestation is treated by improving the personal hygiene of the infested person, including assuring a regular (at least weekly) change of clean clothes. Clothing, bedding, and towels used by the infested person should be laundered using hot water (at least 130°F) and machine dried using the hot cycle. + +Sometimes the infested person also is treated with a pediculicide, a medicine that can kill lice; however, a pediculicide generally is not necessary if hygiene is maintained and items are laundered appropriately at least once a week. A pediculicide should be applied exactly as directed on the bottle or by your physician. + +If you choose to treat, guidelines for the choice of the pediculicide are the same as for head lice. + +More on: Head Lice Treatment",CDC,Parasites - Lice - Body Lice +How to prevent Parasites - Lice - Body Lice ?,"Body lice are spread most commonly by direct contact with an infested person or an infested person’s clothing or bedding. Body lice usually infest persons who do not launder and change their clothes regularly. + +The following are steps that can be taken to help prevent and control the spread of body lice: + + - Bathe regularly and change into properly laundered clothes at least once a week; launder infested clothing at least once a week. + - Machine wash and dry infested clothing and bedding using the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. + - Do not share clothing, beds, bedding, and towels used by an infested person. + - Fumigation or dusting with chemical insecticides sometimes is necessary to control and prevent the spread of body lice for certain diseases (epidemic typhus).",CDC,Parasites - Lice - Body Lice +What is (are) Parasites - Cyclosporiasis (Cyclospora Infection) ?,"Cyclospora cayetanensis is a parasite composed of one cell, too small to be seen without a microscope. This parasite causes an intestinal infection called cyclosporiasis.",CDC,Parasites - Cyclosporiasis (Cyclospora Infection) +Who is at risk for Parasites - Cyclosporiasis (Cyclospora Infection)? ?,"People become infected with Cyclospora by ingesting sporulated oocysts, which are the infective form of the parasite. This most commonly occurs when food or water contaminated with feces is consumed. An infected person sheds unsporulated (immature, non-infective) Cyclospora oocysts in the feces. The oocysts are thought to require days to weeks in favorable environmental conditions to sporulate (become infective). Therefore, direct person-to-person transmission is unlikely, as is transmission via ingestion of newly contaminated food or water. + +More on: Cyclospora Biology + Geographic Distribution + +Cyclosporiasis occurs in many countries, but it seems to be most common in tropical and subtropical regions. In areas where cyclosporiasis has been studied, the risk for infection is seasonal. However, no consistent pattern has been identified regarding the time of year or the environmental conditions, such as temperature or rainfall. + +In the United States, foodborne outbreaks of cyclosporiasis since the mid-1990s have been linked to various types of imported fresh produce, including raspberries, basil, snow peas, and mesclun lettuce; no commercially frozen or canned produce has been implicated. + +U.S. cases of infection also have occurred in persons who traveled to Cyclospora-endemic areas. To reduce the risk for infection, travelers should take precautions, such as those recommended in CDC's Health Information for International Travel (Yellow Book). Travelers also should be aware that treatment of water or food with chlorine or iodine is unlikely to kill Cyclospora oocysts.",CDC,Parasites - Cyclosporiasis (Cyclospora Infection) +How to diagnose Parasites - Cyclosporiasis (Cyclospora Infection) ?,"Clinical Diagnosis + +Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasites. Therefore, if indicated, health care providers should specifically request testing for Cyclospora. + +More on: Resources for Health Professionals: Diagnosis + Laboratory Diagnosis + +Cyclospora infection is diagnosed by examining stool specimens. Diagnosis can be difficult in part because even persons who are symptomatic might not shed enough oocysts in their stool to be readily detectable by laboratory examinations. Therefore, patients might need to submit several specimens collected on different days. + +Special techniques, such as acid-fast staining, are often used to make Cyclospora oocysts more visible under the microscope. In addition, Cyclospora oocysts are autofluorescent, meaning that when stool containing the parasite is viewed under an ultraviolet (UV) fluorescence microscope the parasite appears blue or green against a black background. Molecular diagnostic methods, such as polymerase chain reaction (PCR) analysis, are used to look for the parasite's DNA in the stool. + +More on: Key points for the laboratory diagnosis of cyclosporiasis",CDC,Parasites - Cyclosporiasis (Cyclospora Infection) +What are the treatments for Parasites - Cyclosporiasis (Cyclospora Infection) ?,"Trimethoprim/sulfamethoxazole (TMP/SMX), sold under the trade names Bactrim*, Septra*, and Cotrim*, is the usual therapy for Cyclospora infection. No highly effective alternative antibiotic regimen has been identified yet for patients who do not respond to the standard treatment or have a sulfa allergy. + +More on: Resources for Health Professionals: Treatment + +Most people who have healthy immune systems will recover without treatment. If not treated, the illness may last for a few days to a month or longer. Symptoms may seem to go away and then return one or more times (relapse). Anti-diarrheal medicine may help reduce diarrhea, but a health care provider should be consulted before such medicine is taken. People who are in poor health or who have weakened immune systems may be at higher risk for severe or prolonged illness. + +More on: Resources for Health Professionals FAQs + +* Use of trade names is for identification only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.",CDC,Parasites - Cyclosporiasis (Cyclospora Infection) +How to prevent Parasites - Cyclosporiasis (Cyclospora Infection) ?,"On the basis of the currently available information, avoiding food or water that may have been contaminated with feces is the best way to prevent cyclosporiasis. Treatment with chlorine or iodine is unlikely to kill Cyclospora oocysts. No vaccine for cyclosporiasis is available. + +The U.S. Food and Drug Administration's (FDA) Center for Food Safety and Applied Nutrition (CFSAN) publishes detailed food safety recommendations for growers and suppliers. In its Guide to Minimize Microbial Food Safety Hazards for Fresh Fruits and Vegetables, CFSAN describes good agricultural practices (GAPs) and good manufacturing practices (GMPs) for fresh fruits and vegetables. The guidelines address the growing, harvesting, sorting, packaging, and storage processes; following the guidelines can help reduce the overall risk for microbial contamination during these processes. The precise ways that food and water become contaminated with Cyclospora oocysts are not fully understood. + +CDC monitors the occurrence of cyclosporiasis in the United States and helps state health departments identify and investigate cyclosporiasis outbreaks to prevent additional cases of illness. + +More on: Surveillance and Outbreak Response",CDC,Parasites - Cyclosporiasis (Cyclospora Infection) +What is (are) Parasites - Toxocariasis (also known as Roundworm Infection) ?,"Frequently Asked Questions (FAQs) + + + + Fact Sheets",CDC,Parasites - Toxocariasis (also known as Roundworm Infection) +Who is at risk for Parasites - Toxocariasis (also known as Roundworm Infection)? ?,"Infected dogs and cats shed Toxocara eggs in their feces into the environment. Once in the environment, it takes 2 to 4 weeks for Toxocara larvae to develop and for the eggs to become infectious. Humans or other animals can be infected by accidentally ingesting Toxocara eggs. For example, humans can become infected if they work with dirt and accidentally ingest dirt containing Toxocara eggs. Although rare, people can be infected by eating undercooked or raw meat from an infected animal such as a lamb or rabbit. Because dogs and cats are frequently found where people live, there may be large numbers of infected eggs in the environment. Once in the body, the Toxocara eggs hatch and roundworm larvae can travel in the bloodstream to different parts of the body, including the liver, heart, lungs, brain, muscles, or eyes. Most infected people do not have any symptoms. However, in some people, the Toxocara larvae can cause damage to these tissues and organs. The symptoms of toxocariasis, the disease caused by these migrating larvae, include fever, coughing, inflammation of the liver, or eye problems. + +A U.S. study in 1996 showed that 30% of dogs younger than 6 months deposit Toxocara eggs in their feces; other studies have shown that almost all puppies are born already infected with Toxocara canis. Research also suggests that 25% of all cats are infected with Toxocara cati. Infection rates are higher for dogs and cats that are left outside for more time and allowed to eat other animals. In humans, it has been found that almost 14% of the U.S. population has been infected with Toxocara. Globally, toxocariasis is found in many countries, and prevalence rates can reach as high as 40% or more in parts of the world. There are several factors that have been associated with higher rates of infection with Toxocara. People are more likely to be infected with Toxocara if they own a dog. Children and adolescents under the age of 20 are more likely to test positive for Toxocara infection. This may be because children are more likely to eat dirt and play in outdoor environments, such as sandboxes, where dog and cat feces can be found. This infection is more common in people living in poverty. Geographic location plays a role as well, because Toxocara is more prevalent in hot, humid regions where eggs are kept viable in the soil.",CDC,Parasites - Toxocariasis (also known as Roundworm Infection) +How to diagnose Parasites - Toxocariasis (also known as Roundworm Infection) ?,"If you think you or your child may have toxocariasis, you should see your health care provider to discuss the possibility of infection and, if necessary, to be examined. Toxocariasis can be difficult to diagnose because the symptoms of toxocariasis are similar to the symptoms of other infections. A blood test is available that looks for evidence of infection with Toxocara larvae. In addition to the blood test, diagnosis of toxocariasis includes identifying the presence of typical clinical signs of VT or OT and a history of exposure to cats and dogs.",CDC,Parasites - Toxocariasis (also known as Roundworm Infection) +What are the treatments for Parasites - Toxocariasis (also known as Roundworm Infection) ?,"Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. + +More on: Resources For Health Professionals: Treatment",CDC,Parasites - Toxocariasis (also known as Roundworm Infection) +How to prevent Parasites - Toxocariasis (also known as Roundworm Infection) ?,"Controlling Toxocara infection in dogs and cats will reduce the number of infectious eggs in the environment and reduce the risk of infection for people. Have your veterinarian treat your dogs and cats, especially young animals, regularly for worms. This is especially important if your pets spend time outdoors and may become infected again. + +There are several things that you can do around your home to make you and your pets safer: + + - Clean your pet’s living area at least once a week. Feces should be either buried or bagged and disposed of in the trash. Wash your hands after handling pet waste. + - Do not allow children to play in areas that are soiled with pet or other animal feces and cover sandboxes when not in use to make sure that animals do not get inside and contaminate them. + - Wash your hands with soap and warm water after playing with your pets or other animals, after outdoor activities, and before handling food. + - Teach children the importance of washing hands to prevent infection. + - Teach children that it is dangerous to eat dirt or soil. + + +More on: Handwashing + +Toxocara eggs have a strong protective layer which makes the eggs able to survive in the environment for months or even years under the right conditions. Many common disinfectants are not effective against Toxocara eggs but extreme heat has been shown to kill the eggs. Prompt removal of animal feces can help prevent infection since the eggs require 2 to 4 weeks to become infective once they are out of the animal.",CDC,Parasites - Toxocariasis (also known as Roundworm Infection) +what are marine toxins?,"Marine toxins are naturally occurring chemicals that can contaminate certain seafood. The seafood contaminated with these chemicals frequently looks, smells, and tastes normal. When humans eat such seafood, disease can result.",CDC,Marine Toxins +how can these diseases be diagnosed for Marine Toxins ?,"Diagnosis of marine toxin poisoning is generally based on symptoms and a history of recently eating a particular kind of seafood. Laboratory testing for the specific toxin in patient samples is generally not necessary because this requires special techniques and equipment available in only specialized laboratories. If suspect, leftover fish or shellfish are available, they can be tested for the presence of the toxin more easily. Identification of the specific toxin is not usually necessary for treating patients because there is no specific treatment.",CDC,Marine Toxins +how can these diseases be treated for Marine Toxins ?,"Other than supportive care there are few specific treatments for ciguatera poisoning, paralytic shellfish poisoning, neurotoxic shellfish poisoning, or amnesic shellfish poisoning. Antihistamines and epinephrine, however, may sometimes be useful in treating the symptoms of scombrotoxic fish poisoning. Intravenous mannitol has been suggested for the treatment of severe ciguatera poisoning.",CDC,Marine Toxins +how common are these diseases for Marine Toxins ?,"Every year, approximately 30 cases of poisoning by marine toxins are reported in the United States. Because healthcare providers are not required to report these illnesses and because many milder cases are not diagnosed or reported, the actual number of poisonings may be much greater. Toxic seafood poisonings are more common in the summer than winter because dinoflagelates grow well in warmer seasons. It is estimated from cases with available data that one person dies every 4 years from toxic seafood poisonings.",CDC,Marine Toxins +what can i do to prevent poisoning by marine toxins?,General guidelines for safe seafood consumption:,CDC,Marine Toxins +what is the government doing about these diseases for Marine Toxins ?,"Some health departments test shellfish harvested within their jurisdiction to monitor the level of dinoflagellate toxins and asses the risk for contamination. Based on the results of such testing, recreational and commercial seafood harvesting may be prohibited locally during periods of risk. State and federal regulatory agencies monitor reported cases of marine toxin poisoning, and health departments investigate possible outbreaks and devise control measures. The Centers for Disease Control and Prevention (CDC) provides support to investigators as needed.",CDC,Marine Toxins +what else can be done to prevent these diseases for Marine Toxins ?,"It is important to notify public health departments about even one person with marine toxin poisoning. Public health departments can then investigate to determine if a restaurant, oyster bed, or fishing area has a problem. This prevents other illnesses. In any food poisoning occurrence, consumers should note foods eaten and freeze any uneaten portions in case they need to be tested. A commercial test has been developed in Hawaii to allow persons to test sport caught fish for ciguatoxins.",CDC,Marine Toxins +Who is at risk for Chapare Hemorrhagic Fever (CHHF)? ?,"Like all arenaviruses, Chapare virus has a rodent host as its reservoir. Humans can contract CHHF through contact with an infected rodent. Contact can be direct or through inhalation of aerosolized Chapare virus from the urine or feces of infected rodents. + +Although arenaviruses have been isolated from insects, neither they nor any other intermediary host appear to spread CHHF. + +Person-to-person transmission of arenaviruses through aerosolization, although possible, is rare. From the only observed cluster of cases of CHHF, there was no evidence of person-to-person transmission. + +Transmission, if it can occur with CHHF, is most likely the result of direct contact with an infected person.",CDC,Chapare Hemorrhagic Fever (CHHF) +What are the symptoms of Chapare Hemorrhagic Fever (CHHF) ?,"The symptoms of CHHF, as reported in the only described patient, resemble those of other South American hemorrhagic fevers, such as Argentine HF or Bolivian HF. The incubation period is unknown, but for Argentine hemorrhagic fever (AHF) is 6 to 16 days. + +The CHHF clinical course included: + + - fever + - headache + - articulation and muscle pain + - vomiting + + +These symptoms were followed by deterioration with multiple hemorrhagic signs. The only described CHHF patient died 14 days after onset of symptoms. + +Since Arenaviruses may enter the fetus through infection of the mother, and anecdotal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with CHHF infection in the mother.",CDC,Chapare Hemorrhagic Fever (CHHF) +Who is at risk for Chapare Hemorrhagic Fever (CHHF)? ?,"CHHF occurs in the Cochabamba region of Bolivia. +Field workers + +Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. Laboratory infections have been frequently described with Arenaviruses and Chapare virus can certainly be transmitted to laboratory workers during manipulation of the virus especially during experimental infections of rodents.",CDC,Chapare Hemorrhagic Fever (CHHF) +How to diagnose Chapare Hemorrhagic Fever (CHHF) ?,"CHHF virus has been successfully isolated from both blood and serum during the acute febrile phase of illness. Although not undertaken at the time of the initial cluster, virus can certainly be isolated from tissue obtained post-mortem if available. A subsequent complete genomic analysis of Chapare virus facilitated the development of specific molecular detection (RT-PCR) assays. + +Serologic diagnosis of CHHF can be made by indirect immunofluorescent assay and ELISA. However, individuals from endemic areas who show fever, dizziness, and myalgia, accompanied by laboratory findings of low white blood cell and platelet counts and excess protein in the urine, should be suspected of having one of the South American hemorrhagic fever viruses. Clinical specimens should be tested using specific assays.",CDC,Chapare Hemorrhagic Fever (CHHF) +What are the treatments for Chapare Hemorrhagic Fever (CHHF) ?,"Supportive therapy is important in CHHF. This includes: + + - maintenance of hydration + - management of shock + - sedation + - pain relief + - usual precautions for patients with bleeding disorders + - transfusions (when necessary) + + +Use of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses. + Recovery + +The precise mortality of CHHF is unknown and the only described case was fatal. + +Patients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.",CDC,Chapare Hemorrhagic Fever (CHHF) +How to prevent Chapare Hemorrhagic Fever (CHHF) ?,"Although rodent control would be desirable, it will not be a successful strategy for preventing Chapare hemorrhagic fever cases caused by exposures outdoors. + +As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed CHHF cases.",CDC,Chapare Hemorrhagic Fever (CHHF) +What is (are) Parasites - Zoonotic Hookworm ?,"There are many different species of hookworms, some are human parasites and some are animal parasites. People can be infected by larvae of animal hookworms, usually dog and cat hookworms. The most common result of animal hookworm infection is a skin condition called cutaneous larva migrans.",CDC,Parasites - Zoonotic Hookworm +Who is at risk for Parasites - Zoonotic Hookworm? ?,"Dog and cat hookworms are found throughout the world, especially in warmer climates. In the United States, zoonotic hookworms are found everywhere but more commonly along the East Coast than the West Coast. Worldwide, zoonotic hookworms are found in tropical and subtropical regions where the parasite is better able to survive because of environmental conditions. However, there is one type of dog and cat hookworm that is more commonly found in cooler climates. + +The global burden of zoonotic hookworm in dogs and cats is not known; also, the amount of disease in people caused by these parasites is also unknown. Cutaneous larva migrans (CLM) is most often reported by returning travelers to tropical regions who have had soil and/or sand exposures in places where dogs and cats are likely to have hookworms. However, CLM is likely causing significant problems for the people who live in less developed parts of the world, even though the disease is not reported regularly. In less developed areas of the world, dogs and cats are often free-ranging and have high rates of infection with hookworm which leads to widespread contamination of sand and soil. In a survey of a rural population in Brazil, the prevalence of CLM during the rainy season was 14.9% among children less than 5 years old and 0.7% among adults aged 20 years and older.",CDC,Parasites - Zoonotic Hookworm +How to diagnose Parasites - Zoonotic Hookworm ?,"Cutaneous larva migrans (CLM) is a clinical diagnosis based on the presence of the characteristic signs and symptoms, and exposure history to zoonotic hookworm. For example, the diagnosis can be made based on finding red, raised tracks in the skin that are very itchy. This is usually found on the feet or lower part of the legs on persons who have recently traveled to tropical areas and spent time at the beach. There is no blood test for zoonotic hookworm infection. Persons who think they have CLM should consult their health care provider for accurate diagnosis.",CDC,Parasites - Zoonotic Hookworm +What are the treatments for Parasites - Zoonotic Hookworm ?,"The zoonotic hookworm larvae that cause cutaneous larva migrans (CLM) usually do not survive more than 5 – 6 weeks in the human host. In most patients with CLM, the signs and symptoms resolve without medical treatment. However, treatment may help control symptoms and help prevent secondary bacterial infections. Antiparasitic treatments may be prescribed by your health care provider. + +More on: Resources For Health Professionals: Treatment",CDC,Parasites - Zoonotic Hookworm +How to prevent Parasites - Zoonotic Hookworm ?,"Wearing shoes and taking other protective measures to avoid skin contact with sand or soil will prevent infection with zoonotic hookworms. Travelers to tropical and subtropical climates, especially where beach exposures are likely, should be advised to wear shoes and use protective mats or other coverings to prevent direct skin contact with sand or soil. Routine veterinary care of dogs and cats, including regular deworming, will reduce environmental contamination with zoonotic hookworm eggs and larvae. Prompt disposal of animal feces prevents eggs from hatching and contaminating soil -- which makes it important for control of this parasitic infection.",CDC,Parasites - Zoonotic Hookworm +What is (are) Parasites - Babesiosis ?,"Babesiosis is caused by microscopic parasites that infect red blood cells. Most human cases of Babesia infection in the United States are caused by the parasite Babesia microti. Occasional cases caused by other species (types) of Babesia have been detected. Babesia microti is spread in nature by Ixodes scapularis ticks (also called blacklegged ticks or deer ticks). Tickborne transmission is most common in particular regions and seasons: it mainly occurs in parts of the Northeast and upper Midwest; and it usually peaks during the warm months. Babesia infection can range in severity from asymptomatic to life threatening. The infection is both treatable and preventable. + Frequently Asked Questions (FAQs) + + Podcasts",CDC,Parasites - Babesiosis +Who is at risk for Parasites - Babesiosis? ?,"People can get infected with Babesia parasites in several ways: + + - The main way is through the bite of an infected tick—during outdoor activities in areas where babesiosis is found (see below). + - A less common way is by getting a transfusion from a blood donor who has a Babesia infection but does not have any symptoms. (No tests have been licensed yet for screening blood donors for Babesia.) + - Rare cases of congenital transmission—from an infected mother to her baby (during pregnancy or delivery)—have been reported. + + +Babesia parasites are not transmitted from person-to-person like the flu or the common cold. + +Many different species (types) of Babesia parasites have been found in animals, only a few of which have been found in people. Babesia microti—which usually infects white-footed mice and other small mammals—is the main species that has been found in people in the United States. Occasional (sporadic) cases of babesiosis caused by other Babesia species have been detected. + + + + +Babesia microti is transmitted in nature by Ixodes scapularis ticks (also called blacklegged ticks or deer ticks). + + - Tickborne transmission primarily occurs in the Northeast and upper Midwest, especially in parts of New England, New York state, New Jersey, Wisconsin, and Minnesota. + - The parasite typically is spread by the young nymph stage of the tick, which is most apt to be found (seeking or ""questing"" for a blood meal) during warm months (spring and summer), in areas with woods, brush, or grass. + - Infected people might not recall a tick bite because I. scapularis nymphs are very small (about the size of a poppy seed).",CDC,Parasites - Babesiosis +How to diagnose Parasites - Babesiosis ?,"In symptomatic people, babesiosis usually is diagnosed by examining blood specimens under a microscope and seeing Babesia parasites inside red blood cells. + +To be sure the diagnosis is correct, your health care provider might have specimens of your blood tested by a specialized reference laboratory (such as at CDC or a health department). + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Babesiosis +What are the treatments for Parasites - Babesiosis ?,"Effective treatments are available. People who do not have any symptoms or signs of babesiosis usually do not need to be treated. + +Before considering treatment, the first step is to make sure the diagnosis is correct. + +For more information, people should talk to their health care provider. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Babesiosis +How to prevent Parasites - Babesiosis ?,"Steps can be taken to reduce the risk for babesiosis and other tickborne infections. The use of prevention measures is especially important for people at increased risk for severe babesiosis (for example, people who do not have a spleen). Avoiding exposure to tick habitats is the best defense. + +Babesia microti is spread by Ixodes scapularis ticks, which are mostly found in wooded, brushy, or grassy areas, in certain regions and seasons. No vaccine is available to protect people against babesiosis. However, people who live, work, or travel in tick-infested areas can take simple steps to help protect themselves against tick bites and tickborne infections. + + + + +During outdoor activities in tick habitats, take precautions to keep ticks off the skin. + + - Walk on cleared trails and stay in the center of the trail, to minimize contact with leaf litter, brush, and overgrown grasses, where ticks are most likely to be found. + - Minimize the amount of exposed skin, by wearing socks, long pants, and a long-sleeved shirt. Tuck the pant legs into the socks, so ticks cannot crawl up the inside of the pants. Wear light-colored clothing, to make it easier to see and remove ticks before they attach to skin. + - Apply repellents to skin and clothing. Follow the instructions on the product label. + + - Products that contain DEET (N,N-diethylmetatoluamide) can be directly applied to exposed skin and to clothing, to help keep ticks away (by repelling them). The product label includes details about how and where to apply the repellent, how often to reapply it, and how to use it safely on children. + - Permethrin products can be applied to clothing/boots (not to skin), actually kill ticks that come in contact with the treated clothing, and usually stay effective through several washings. + + + + + + +After outdoor activities, conduct daily tick checks and promptly remove any ticks that are found. Thorough, daily tick checks are very important. The I. scapularis nymphs that typically spread B. microti are so small (about the size of a poppy seed) that they are easily overlooked. But they usually must stay attached to a person for more than 36-48 hours to be able to transmit the parasite. + + - Remove ticks from clothing and pets before going indoors. + - Conduct a full-body exam for ticks. Use a hand-held or full-length mirror to view all parts of the body. Be sure to check behind the knees, between the legs (groin/thighs), between the toes, under the arms (armpits), around the waist, inside the belly button, the back of the neck, behind and in the ears, as well as in and around the scalp, hairline, and hair. Remember to check children and pets, too. + + +Remove ticks that are attached to the skin as soon as possible, preferably by using pointed (fine-tipped) tweezers. Grab the tick’s mouth parts close to the skin, and slowly pull the tick straight out (with steady outward pressure), until the tick lets go. + +More on: Removing Ticks + +More on: Ticks",CDC,Parasites - Babesiosis +What is (are) Parasites - Fascioliasis (Fasciola Infection) ?,"Fascioliasis is an infectious disease caused by Fasciola parasites, which are flat worms referred to as liver flukes. The adult (mature) flukes are found in the bile ducts and liver of infected people and animals, such as sheep and cattle. In general, fascioliasis is more common in livestock and other animals than in people. +Two Fasciola species (types) infect people. The main species is Fasciola hepatica, which is also known as ""the common liver fluke"" and ""the sheep liver fluke."" A related species, Fasciola gigantica, also can infect people.",CDC,Parasites - Fascioliasis (Fasciola Infection) +Who is at risk for Parasites - Fascioliasis (Fasciola Infection)? ?,"Fascioliasis occurs in many areas of the world and usually is caused by F. hepatica, which is a common liver fluke of sheep and cattle. In general, fascioliasis is more common and widespread in animals than in people. Even so, the number of infected people in the world is thought to exceed 2 million. + +Fasciola hepatica is found in more than 50 countries, in all continents except Antarctica. It is found in parts of Latin America, the Caribbean, Europe, the Middle East, Africa, Asia, and Oceania. Fasciola gigantica is less widespread. Human cases have been reported in the tropics, in parts of Africa and Asia, and also in Hawaii. + +In some areas where fascioliasis is found, human cases are uncommon (sporadic). In other areas, human fascioliasis is very common (hyperendemic). For example, the areas with the highest known rates of human infection are in the Andean highlands of Bolivia and Peru. + +Special conditions are needed for fascioliasis to be present in an area, and its geographic distribution is very patchy (focal). The eggs passed in the stool of infected mammals have to develop (mature) in a suitable aquatic snail host to be able to infect another mammalian host. Requirements include sufficient moisture and favorable temperatures (above 50°F) that allow the development of miracidia, reproduction of snails, and larval development within the snails. These factors also contribute to both the prevalence and level (intensity) of infection. Prevalence is highest in areas where climatic conditions promote development of cercariae. + +More on: Biology + +Infective Fasciola larvae (metacercariae) are found in contaminated water, either stuck to (encysted on) water plants or floating in the water, often in marshy areas, ponds, or flooded pastures. People (and animals) typically become infected by eating raw watercress or other contaminated water plants. The plants may be eaten as a snack or in salads or sandwiches. People also can get infected by ingesting contaminated water, such as by drinking it or by eating vegetables that were washed or irrigated with contaminated water. Infection also can result from eating undercooked sheep or goat livers that contain immature forms of the parasite. + +The possibility of becoming infected in the United States should be considered, despite the fact that few locally acquired cases have been documented. The prerequisites for the Fasciola life cycle exist in some parts of the United States. In addition, transmission because of imported contaminated produce could occur, as has been documented in Europe.",CDC,Parasites - Fascioliasis (Fasciola Infection) +How to diagnose Parasites - Fascioliasis (Fasciola Infection) ?,"The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. Sometimes eggs are found by examining duodenal contents or bile. + +Infected people don't start passing eggs until they have been infected for several months; people don't pass eggs during the acute phase of the infection. Therefore, early on, the infection has to be diagnosed in other ways than by examining stool. Even during the chronic phase of infection, it can be difficult to find eggs in stool specimens from people who have light infections. + +Certain types of blood tests can be helpful for diagnosing Fasciola infection, including routine blood work and tests that detect antibodies (an immune response) to the parasite. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Fascioliasis (Fasciola Infection) +What are the treatments for Parasites - Fascioliasis (Fasciola Infection) ?,"The first step is to make sure the diagnosis is correct. For more information, patients should consult their health care provider. Health care providers may consult with CDC staff about the diagnosis and treatment of fascioliasis. + +The drug of choice is triclabendazole. In the United States, this drug is available through CDC, under a special (investigational) protocol. The drug is given by mouth, usually in one or two doses. Most people respond well to the treatment. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Fascioliasis (Fasciola Infection) +How to prevent Parasites - Fascioliasis (Fasciola Infection) ?,"No vaccine is available to protect people against Fasciola infection. + +In some areas of the world where fascioliasis is found (endemic), special control programs are in place or are planned. The types of control measures depend on the setting (such as epidemiologic, ecologic, and cultural factors). Strict control of the growth and sale of watercress and other edible water plants is important. + +Individual people can protect themselves by not eating raw watercress and other water plants, especially from endemic grazing areas. As always, travelers to areas with poor sanitation should avoid food and water that might be contaminated (tainted). Vegetables grown in fields that might have been irrigated with polluted water should be thoroughly cooked, as should viscera from potentially infected animals.",CDC,Parasites - Fascioliasis (Fasciola Infection) +What is (are) Parasites - Cysticercosis ?,"Cysticercosis is an infection caused by the larvae of the parasite Taenia solium. This infection occurs after a person swallows tapeworm eggs. The larvae get into tissues such as muscle and brain, and form cysts there (these are called cysticerci). When cysts are found in the brain, the condition is called neurocysticercosis.",CDC,Parasites - Cysticercosis +Who is at risk for Parasites - Cysticercosis? ?,"Cysticercosis is an infection caused by the larvae of the tapeworm, Taenia solium. A person with an adult tapeworm, which lives in the person’s gut, sheds eggs in the stool. The infection with the adult tapeworm is called taeniasis. A pig then eats the eggs in the stool. The eggs develop into larvae inside the pig and form cysts (called cysticerci) in the pig's muscles or other tissues. The infection with the cysts is called cysticercosis. Humans who eat undercooked or raw infected pork swallow the cysts in the meat. The larvae then come out of their cysts in the human gut and develop into adult tapeworms, completing the cycle. + +People get cysticercosis when they swallow eggs that are excreted in the stool of people with the adult tapeworm. This may happen when people + + - Drink water or eat food contaminated with tapeworm eggs + - Put contaminated fingers in their mouth + + +Cysticercosis is not spread by eating undercooked meat. However, people get infected with tapeworms (taeniasis) by eating undercooked infected pork. People who have tapeworm infections can infect themselves with the eggs and develop cysticercosis (this is called autoinfection). They can also infect other people if they have poor hygiene and contaminate food or water that other people swallow. People who live with someone who has a tapeworm infection in their intestines have a much higher risk of getting cysticercosis than other people. + +Human cysticercosis is found worldwide, especially in areas where pig cysticercosis is common. Both taeniasis and cysticercosis are most often found in rural areas of developing countries with poor sanitation, where pigs roam freely and eat human feces. Taeniasis and cysticercosis are rare among persons who live in countries where pigs are not raised and in countries where pigs do not have contact with human feces. Although uncommon, cysticercosis can occur in people who have never traveled outside of the United States if they are exposed to tapeworm eggs. + +More on: Taeniasis",CDC,Parasites - Cysticercosis +How to diagnose Parasites - Cysticercosis ?,"If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. Blood tests may be useful to help diagnose an infection, but they may not always be positive in light infections. + +If you have been diagnosed with cysticercosis, you and your family members should be tested for intestinal tapeworm infection. See the taeniasis section for more information on intestinal tapeworm infections. + +More on: Taeniasis + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Cysticercosis +What are the treatments for Parasites - Cysticercosis ?,"Some people with cysticercosis do not need to be treated. There are medications available to treat cysticercosis for those who do need treatment. Sometimes surgery may be needed. Your doctor will advise you on which treatment is best for you. + +More on: Resources for Health Professionals: Treatment + +More on: Taeniasis",CDC,Parasites - Cysticercosis +How to prevent Parasites - Cysticercosis ?,"To prevent cysticercosis, the following precautions should be taken: + + - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food + - Teach children the importance of washing hands to prevent infection + - Wash and peel all raw vegetables and fruits before eating + - Use good food and water safety practices while traveling in developing countries such as: + + - Drink only bottled or boiled (1 minute) water or carbonated (bubbly) drinks in cans or bottles + - Filter unsafe water through an ""absolute 1 micron or less"" filter AND dissolve iodine tablets in the filtered water; ""absolute 1 micron"" filters can be found in camping and outdoor supply stores + + + +More on: Handwashing + +More on: Food and Water Safety",CDC,Parasites - Cysticercosis +How to diagnose Tuberculosis (TB) ?,"Tuberculosis (TB) is a disease that is spread through the air from one person to another. There are two kinds of tests that are used to determine if a person has been infected with TB bacteria: the tuberculin skin test and TB blood tests. + +A positive TB skin test or TB blood test only tells that a person has been infected with TB bacteria. It does not tell whether the person has latent TB infection (LTBI) or has progressed to TB disease. Other tests, such as a chest x-ray and a sample of sputum, are needed to see whether the person has TB disease. + +Tuberculin skin test: The TB skin test (also called the Mantoux tuberculin skin test) is performed by injecting a small amount of fluid (called tuberculin) into the skin in the lower part of the arm. A person given the tuberculin skin test must return within 48 to 72 hours to have a trained health care worker look for a reaction on the arm. The health care worker will look for a raised, hard area or swelling, and if present, measure its size using a ruler. Redness by itself is not considered part of the reaction. + +The skin test result depends on the size of the raised, hard area or swelling. It also depends on the person’s risk of being infected with TB bacteria and the progression to TB disease if infected. + + - Positive skin test: This + means the person’s body was infected with TB bacteria. Additional tests are needed to determine if the person has latent TB infection or TB disease. A health care worker will then provide treatment as needed. + - Negative skin test: This means the person’s body did not react to the test, and that latent TB infection or TB disease is not likely. + + + + TB blood tests: + TB blood tests (also called interferon-gamma release assays or IGRAs) measure how the immune system reacts to the bacteria that cause TB. An IGRA measures how strong a person’s immune system reacts to TB bacteria by testing the person’s blood in a laboratory. + +Two IGRAs are approved by the U.S. Food and Drug Administration (FDA) and are available in the United States: + + - QuantiFERON®–TB Gold In-Tube test (QFT-GIT) + - T-SPOT®.TB test (T-Spot) + + + - Positive IGRA: This means that the person has been infected with TB bacteria. Additional tests are needed to determine if the person has latent TB infection or TB disease. A health care worker will then provide treatment as needed. + - Negative IGRA: This means that the person’s blood did not react to the test and that latent TB infection or TB disease is not likely. + + +IGRAs are the preferred method of TB infection testing for the following: + + - People who have a difficult time returning for a second appointment to look for a reaction to the TST. + + +There is no problem with repeated IGRAs. + + + + Testing for TB in BCG-Vaccinated Persons + +Many people born outside of the United States have been BCG-vaccinated. + +People who have had a previous BCG vaccine may receive a TB skin test. In some people, BCG may cause a positive skin test when they are not infected with TB bacteria. If a TB skin test is positive, additional tests are needed. + +IGRAs, unlike the TB skin tests, are not affected by prior BCG vaccination and are not expected to give a false-positive result in people who have received BCG. + + Choosing a TB Test + +The person’s health care provider should choose which TB test to use. Factors in selecting which test to use include the reason for testing, test availability, and cost. Generally, it is not recommended to test a person with both a TST and an IGRA. + + Diagnosis of Latent TB Infection or TB Disease + +If a person is found to be infected with TB bacteria, other tests are needed to see if the person has TB disease. + +TB disease can be diagnosed by medical history, physical examination, chest x-ray, and other laboratory tests. TB disease is treated by taking several drugs as recommended by a health care provider. + +If a person does not have TB disease, but has TB bacteria in the body, then latent TB infection is diagnosed. The decision about treatment for latent TB infection will be based on a person’s chances of developing TB disease. + + Diagnosis of TB Disease + +People suspected of having TB disease should be referred for a medical evaluation, which will include + + - Medical history, + - Physical examination, + - Test for TB infection (TB skin test or TB blood test), + - Chest radiograph (X-ray), and + - Appropriate laboratory tests + + +See Diagnosis of TB (Fact sheet) for more information about TB diagnosis. + + + Related Links + + + For Patients + + + For Health Care Providers",CDC,Tuberculosis (TB) +How to prevent Tuberculosis (TB) ?,"Infection Control in Health Care Settings + +Tuberculosis (TB) transmission has been documented in health care settings where health care workers and patients come in contact with people who have TB disease. + +People who work or receive care in health care settings are at higher risk for becoming infected with TB; therefore, it is necessary to have a TB infection control plan as part of a general infection control program designed to ensure the following: + + - prompt detection of infectious patients, + - airborne precautions, and + - treatment of people who have suspected or confirmed TB disease. + + +In order to be effective, the primary emphasis of a TB infection control program should be on achieving these three goals. + +In all health care settings, particularly those in which people are at high risk for exposure to TB, policies and procedures for TB control should be developed, reviewed periodically, and evaluated for effectiveness to determine the actions necessary to minimize the risk for transmission of TB. + +The TB infection control program should be based on a three-level hierarchy of control measures and include: + + - Administrative measures + - Environmental controls + - Use of respiratory protective equipment + + +The first and most important level of the hierarchy, administrative measures, impacts the largest number of people. It is intended primarily to reduce the risk of uninfected people who are exposed to people who have TB disease. + +The second level of the hierarchy is the use of environmental controls to reduce the amount of TB in the air. The first two control levels of the hierarchy also minimize the number of areas in the health care setting where exposure to TB may occur. + +The third level of the hierarchy is the use of respiratory protective equipment in situations that pose a high risk of exposure to TB. Use of respiratory protection equipment can further reduce the risk for exposure of health care workers. + +More: Information about Infection Control in Health Care Settings + + TB Prevention + +Preventing Exposure to TB Disease While Traveling Abroad +Travelers should avoid close contact or prolonged time with known TB patients in crowded, enclosed environments (for example, clinics, hospitals, prisons, or homeless shelters). + +Travelers who will be working in clinics, hospitals, or other health care settings where TB patients are likely to be encountered should consult infection control or occupational health experts. They should ask about administrative and environmental procedures for preventing exposure to TB. Once those procedures are implemented, additional measures could include using personal respiratory protective devices. + +Travelers who anticipate possible prolonged exposure to people with TB (for example, those who expect to come in contact routinely with clinic, hospital, prison, or homeless shelter populations) should have a tuberculin skin test (TST) or interferon-gamma release assay (IGRA) test before leaving the United States. If the test reaction is negative, they should have a repeat test 8 to 10 weeks after returning to the United States. Additionally, annual testing may be recommended for those who anticipate repeated or prolonged exposure or an extended stay over a period of years. Because people with HIV infection are more likely to have an impaired response to both the TST and IGRA, travelers who are HIV positive should tell their physicians about their HIV infection status. + +More: Tuberculosis Information for International Travelers + + What to Do If You Have Been Exposed to TB + +If you think you have been exposed to someone with TB disease, contact your health care provider or local health department to see if you should be tested for TB. Be sure to tell the doctor or nurse when you spent time with someone who has TB disease. + +More: What to Do If You Have Been Exposed to TB + + Preventing Latent TB Infection from Progressing to TB Disease + +Many people who have latent TB infection never develop TB disease. But some people who have latent TB infection are more likely to develop TB disease than others. Those at high risk for developing TB disease include: + + - People with HIV infection + - People who became infected with TB bacteria in the last 2 years + - Babies and young children + - People who inject illegal drugs + - People who are sick with other diseases that weaken the immune system + - Elderly people + - People who were not treated correctly for TB in the past + + +If you have latent TB infection and you are in one of these high-risk groups, you should take medicine to keep from developing TB disease. There are several treatment options for latent TB infection. You and your health care provider must decide which treatment is best for you. If you take your medicine as instructed, it can keep you from developing TB disease. Because there are less bacteria, treatment for latent TB infection is much easier than treatment for TB disease. A person with TB disease has a large amount of TB bacteria in the body. Several drugs are needed to treat TB disease.",CDC,Tuberculosis (TB) +What are the treatments for Tuberculosis (TB) ?,"Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but TB bacteria can attack any part of the body such as the kidney, spine, and brain. If not treated properly, TB disease can be fatal. + +Not everyone infected with TB bacteria becomes sick. As a result, two TB-related conditions exist: latent TB infection and TB disease. Both latent TB infection and TB disease can be treated. Learn more about the difference between latent TB infection and TB disease. + + Treatment for Latent TB Infection + +People with latent TB infection have TB bacteria in their bodies, but they are not sick because the bacteria are not active. People with latent TB infection do not have symptoms, and they cannot spread TB bacteria to others. However, if TB bacteria become active in the body and multiply, the person will go from having latent TB infection to being sick with TB disease. For this reason, people with latent TB infection are often prescribed treatment to prevent them from developing TB disease. Treatment of latent TB infection is essential for controlling and eliminating TB in the United States. + +Because there are less bacteria in a person with latent TB infection, treatment is much easier. Four regimens are approved for the treatment of latent TB infection. The medications used to treat latent TB infection include: + + - isoniazid (INH) + - rifampin (RIF) + - rifapentine (RPT) + + +Certain groups of people (such as people with weakened immune systems) are at very high risk of developing TB disease once infected with TB bacteria. Every effort should be made to begin appropriate treatment and to ensure completion of the entire course of treatment for latent TB infection. + +More: Treatment for Latent TB Infection + + Treatment for TB Disease + +TB bacteria become active (multiplying in the body) if the immune system can't stop them from growing. When TB bacteria are active, this is called TB disease. TB disease will make a person sick. People with TB disease may spread the bacteria to people with whom they spend many hours. + +TB disease can be treated by taking several drugs for 6 to 9 months. There are 10 drugs currently approved by the U.S. Food and Drug Administration (FDA) for treating TB. Of the approved drugs, the first-line anti-TB agents that form the core of treatment regimens include: + + - isoniazid (INH) + - rifampin (RIF) + - ethambutol (EMB) + - pyrazinamide (PZA) + + +Regimens for treating TB disease have an initial phase of 2 months, followed by a choice of several options for the continuation phase of either 4 or 7 months (total of 6 to 9 months for treatment). Learn more about the continuation phase of treatment. + +It is very important that people who have TB disease finish the medicine, taking the drugs exactly as prescribed. If they stop taking the drugs too soon, they can become sick again; if they do not take the drugs correctly, the TB bacteria that are still alive may become resistant to those drugs. TB that is resistant to drugs is harder and more expensive to treat. + +More: Treatment for TB Disease + + Treatment Completion + +Treatment completion is determined by the number of doses ingested over a given period of time. Although basic TB regimens are broadly applicable, there are modifications that should be made under special circumstances (such as people with HIV infection, drug resistance, pregnancy, or treatment of children).",CDC,Tuberculosis (TB) +What is (are) Tuberculosis (TB) ?,"The Division of Tuberculosis Elimination (DTBE) Laboratory Branch (LB) provides services for the following tests on mycobacterial cultures. Any local health department, licensed physician's office, licensed laboratory or licensed health care facility may submit cultures for testing but they must be routed through either their state health department or other authorized facility. + Genotyping + State or local TB control programs + +A genotyping laboratory, in Michigan is under contract with CDC to provide genotyping services to TB programs in the United States. Three genotyping methods to identify TB strains: + + - Spoligotyping + - Mycobacterial interspersed repetitive unit (MIRU) analysis + - IS6110-based restriction fragment length polymorphism (RFLP) analysis + + +For more information, view the Guide to the Application of Genotyping to Tuberculosis Prevention and Control. + +DTBE epidemiologic investigations and surveillance activities + + - The LB provides support for DTBE epidemiologic investigations and surveillance activities. TB genotyping results, when combined with epidemiologic data, help to distinguish TB patients who are involved in the same chain of recent transmission. + + Drug susceptibility testing + +The LB performs drug susceptibility testing for selected Mycobacterium species referred from state or other authorized health facilities. Cultures of mycobacteria are tested by the indirect proportion method with antituberculosis drugs incorporated into 7H10 agar plates. + + Additional Resources",CDC,Tuberculosis (TB) +what research is being done for Tuberculosis (TB) ?,"TB Epidemiologic Studies Consortium + + The TB Epidemiologic Studies Consortium (TBESC) was established to strengthen, focus, and coordinate tuberculosis (TB) research. The TBESC is designed to build the scientific research capacities of state and metropolitan TB control programs, participating laboratories, academic institutions, hospitals, and both non- and for-profit organizations. + + TB Trials Consortium + + The TB Trials Consortium (TBTC) is a collaboration of North American and international clinical investigators whose mission is to conduct programmatically relevant research concerning the diagnosis, clinical management, and prevention of TB infection and disease. + Behavioral and Social Science Research + Behavioral and social science research has the potential to make a tremendous impact on TB elimination efforts. This research is needed to 1) understand how behaviors of both patients and providers affect TB-related care seeking, diagnosis, treatment success, and prevention; and 2) understand how other social, cultural, and environmental influences affect health seeking and treatment outcomes related to TB.",CDC,Tuberculosis (TB) +What is (are) Parasites - Trichinellosis (also known as Trichinosis) ?,"Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as domestic pigs or wild boar.",CDC,Parasites - Trichinellosis (also known as Trichinosis) +Who is at risk for Parasites - Trichinellosis (also known as Trichinosis)? ?,"People acquire trichinellosis by consuming raw or undercooked meat infected with the Trichinella parasite, particularly wild game meat or pork. Even tasting very small amounts of undercooked meat during preparation or cooking puts you at risk for infection. Outbreaks occur in settings where multiple people consume the same Trichinella-infected meat. +Worldwide, an estimated 10,000 cases of trichinellosis occur every year. Several different species of Trichinella can cause human disease; the most common species is Trichinella spiralis, which has a global distribution and is the species most commonly found in pigs. Other Trichinella species are less commonly reported as the cause of human disease and may be found in different parts of the world, usually infecting wild animals. +In the United States, trichinellosis cases are reported to CDC much less commonly now than in the past (Figure 1). During the late 1940s, when the U.S. Public Health Service began counting cases of trichinellosis, 400 cases in the United States were recorded each year on average. During 2008-2010, 20 cases were reported to CDC each year on average. The overall number of cases reported has decreased because of improved pig-raising practices in the pork industry, commercial and home freezing of pork, and public awareness of the danger of eating raw or undercooked meat products. The number of cases associated with raw or undercooked wild game meats has remained relatively constant over time (Figure 2). Over the past 40 years, few cases of trichinellosis have been reported in the United States, and the risk of trichinellosis from commercially raised and properly prepared pork is very low. However, eating undercooked wild game, particularly bear meat, puts one at risk for acquiring this disease.",CDC,Parasites - Trichinellosis (also known as Trichinosis) +How to diagnose Parasites - Trichinellosis (also known as Trichinosis) ?,"A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat. + +Laboratory diagnosis of Trichinella infection is most often made by a Trichinella antibody test. In some cases a muscle biopsy may be performed. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Trichinellosis (also known as Trichinosis) +What are the treatments for Parasites - Trichinellosis (also known as Trichinosis) ?,"Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results. + +More on: Resources For Health Professionals: Treatment",CDC,Parasites - Trichinellosis (also known as Trichinosis) +How to prevent Parasites - Trichinellosis (also known as Trichinosis) ?,"- Wash your hands with warm water and soap after handling raw meat. + - Curing (salting), drying, smoking, or microwaving meat alone does not consistently kill infective worms; homemade jerky and sausage were the cause of many cases of trichinellosis reported to CDC in recent years. + - Freeze pork less than 6 inches thick for 20 days at 5°F (-15°C) to kill any worms. + - Freezing wild game meats, unlike freezing pork products, may not effectively kill all worms because some worm species that infect wild game animals are freeze-resistant. + - Clean meat grinders thoroughly after each use. + + +To help prevent Trichinella infection in animal populations, do not allow pigs or wild animals to eat uncooked meat, scraps, or carcasses of any animals, including rats, which may be infected with Trichinella.",CDC,Parasites - Trichinellosis (also known as Trichinosis) +What are the symptoms of Rocky Mountain Spotted Fever (RMSF) ?,"The first symptoms of Rocky Mountain spotted fever (RMSF) typically begin 2-14 days after the bite of an infected tick. A tick bite is usually painless and about half of the people who develop RMSF do not remember being bitten. The disease frequently begins as a sudden onset of fever and headache and most people visit a healthcare provider during the first few days of symptoms. Because early symptoms may be non-specific, several visits may occur before the diagnosis of RMSF is made and correct treatment begins. The following is a list of symptoms commonly seen with this disease, however, it is important to note that few people with the disease will develop all symptoms, and the number and combination of symptoms varies greatly from person to person. + + - Fever + - Rash (occurs 2-5 days after fever, may be absent in some cases; see below) + - Headache + - Nausea + - Vomiting + - Abdominal pain (may mimic appendicitis or other causes of acute abdominal pain) + - Muscle pain + - Lack of appetite + - Conjunctival injection (red eyes) + + +RMSF is a serious illness that can be fatal in the first eight days of symptoms if not treated correctly, even in previously healthy people. The progression of the disease varies greatly. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. + + +Rash + +While most people with RMSF (90%) have some type of rash during the course of illness, some people do not develop the rash until late in the disease process, after treatment should have already begun. Approximately 10% of RMSF patients never develop a rash. It is important for physicians to consider RMSF if other signs and symptoms support a diagnosis, even if a rash is not present. + +A classic case of RMSF involves a rash that first appears 2-5 days after the onset of fever as small, flat, pink, non-itchy spots (macules) on the wrists, forearms, and ankles and spreads to include the trunk and sometimes the palms and soles. Often the rash varies from this description and people who fail to develop a rash, or develop an atypical rash, are at increased risk of being misdiagnosed. + +The red to purple, spotted (petechial) rash of RMSF is usually not seen until the sixth day or later after onset of symptoms and occurs in 35-60% of patients with the infection. This is a sign of progression to severe disease, and every attempt should be made to begin treatment before petechiae develop. + +Figure 1a and 1b: Examples of an early-stage rash in an RMSF patient. + + + + + + + + + + + + + + + + + + + + + + + +Long-term Health Problems + +Patients who had a particularly severe infection requiring prolonged hospitalization may have long-term health problems caused by this disease. Rickettsia rickettsii infects the endothelial cells that line the blood vessels. The damage that occurs in the blood vessels results in a disease process called a ""vasculitis"", and bleeding or clotting in the brain or other vital organs may occur. Loss of fluid from damaged vessels can result in loss of circulation to the extremities and damaged fingers, toes or even limbs may ultimately need to be amputated. Patients who suffer this kind of severe vasculitis in the first two weeks of illness may also be left with permanent long-term health problems such as profound neurological deficits, or damage to internal organs. Those who do not have this kind of vascular damage in the initial stages of the disease typically recover fully within several days to months. + + +Infection in Children + +Children with RMSF infection may experience nausea, vomiting, and loss of appetite. Children are less likely to report a headache, but more likely to develop an early rash than adults. Other frequently observed signs and symptoms in children with RMSF are abdominal pain, altered mental status, and conjunctival injection. Occasionally, symptoms like cough, sore throat, and diarrhea may be seen, and can lead to misdiagnosis. + +For more in-depth information about signs and symptoms of RMSF, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Physician Diagnosis + +There are several aspects of RMSF that make it challenging for healthcare providers to diagnose and treat. The symptoms of RMSF vary from patient to patient and can easily resemble other, more common diseases. Treatment for this disease is most effective at preventing death if started in the first five days of symptoms. Diagnostic tests for this disease, especially tests based on the detection of antibodies, will frequently appear negative in the first 7-10 days of illness. Due to the complexities of this disease and the limitations of currently available diagnostic tests, there is no test available at this time that can provide a conclusive result in time to make important decisions about treatment. + +For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to high grass and tick-infested areas, contact with dogs, similar illnesses in family members or pets, or history of recent travel to areas of high incidence can be helpful in making the diagnosis. Also, information about the presence of symptoms such as fever and rash may be helpful. The healthcare provider may also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low sodium levels (hyponatremia), or elevated liver enzyme levels are often helpful predictors of RMSF but may not be present in all patients. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of RMSF. + + + + + + + +Laboratory Confirmation + +R. rickettsii infects the endothelial cells that line blood vessels, and does not circulate in large numbers in the blood unless the patient has progressed to a very severe phase of infection. For this reason, blood specimens (whole blood, serum) are not always useful for detection of the organism through polymerase chain reaction (PCR) or culture. If the patient has a rash, PCR or immunohistochemical (IHC) staining can be performed on a skin biopsy taken from the rash site. This test can often deliver a rapid result. These tests have good sensitivity (70%) when applied to tissue specimens collected during the acute phase of illness and before antibiotic treatment has been started, but a negative result should not be used to guide treatment decisions. PCR, culture, and IHC can also be applied to autopsy specimens (liver, spleen, kidney, etc) collected after a patient dies. Culture of R. rickettsii is only available at specialized laboratories; routine hospital blood cultures cannot detect R. rickettsii. + +During RMSF infection, a patient’s immune system develops antibodies to R. rickettsii, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out RMSF as a cause of illness. + +The gold standard serologic test for diagnosis of RMSF is the indirect immunofluorescence assay (IFA) with R. rickettsii antigen, performed on two paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most RMSF cases, the first IgG IFA titer is typically low or negative, and the second typically shows a significant (fourfold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or even years. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. + +Both IgM and IgG levels may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Up to 10% of currently healthy people in some areas may have elevated antibody titers due to past exposure to R. rickettsii or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, whereas two paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provide the best evidence for a correct diagnosis of RMSF. For more in-depth information about testing, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Treatment + +Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever RMSF is suspected. + +Use of antibiotics other than doxycycline is associated with a higher risk of fatal outcome. Treatment is most effective at preventing death if doxycycline is started in the first 5 days of symptoms. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return or symptoms of severe disease, such as petechiae, develop. + +If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be RMSF. Severely ill patients may require longer periods before their fever resolves, especially if they have experienced damage to multiple organ systems. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course of treatment have not been documented. + +Recommended Dosage +Doxycycline is the first line treatment for adults and children of all ages: + + - Adults: 100 mg every 12 hours + - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day + + +Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7-14 days. +Treating Children + +The use of doxycycline to treat suspected RMSF in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Use of antibiotics other than doxycycline increases the risk of patient death. Unlike older tetracyclines, the recommended dose and duration of medication needed to treat RMSF has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected Rocky Mountain spotted fever in patients of all ages. +Other Treatments + +In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of RMSF appears mild, chloramphenicol may be considered as an alternative antibiotic. Oral forumulations of chloramphenicol are not available in the United States, and use of this drug carries the potential for other adverse risks, such as aplastic anemia and Grey baby syndrome. Furthermore, the risk for fatal outcome is elevated in patients who are treated with chloramphenicol compared to those treated with doxycycline. Other antibiotics, including broad spectrum antibiotics are not effective against R. rickettsii, and the use of sulfa drugs may worsen infection. +Prophylaxis (Preventive Treatment) + +Antibiotic treatment following a tick bite is not recommended as a means to prevent RMSF. There is no evidence this practice is effective, and may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. + +For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Other Considerations + +The clinical presentation for RMSF can also resemble other tickborne diseases, such as ehrlichiosis and anaplasmosis. Similar to RMSF, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm",CDC,Rocky Mountain Spotted Fever (RMSF) +What is (are) Rocky Mountain Spotted Fever (RMSF) ?,"More detailed information on the diagnosis, management, and treatment of tickborne rickettsial diseases is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. +*Case definitions have been updated since publication +How to Contact the Rickettsial Zoonoses Branch at CDC + +The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding RMSF and other rickettsial diseases. If a consultation with a CDC scientist specializing in rickettsial diseases is advised, your call will be appropriately forwarded. +Case Definitions + +As of January 1, 2010, cases of RMSF are reported under a new category called Spotted Fever Rickettsiosis (including Rocky Mountain spotted fever). + + +Case Report Forms + +For confirmed and probable cases of RMSF that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using CDC Case Report Forms (CRFs). These forms collect additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of CRFs. + + +How to Submit Specimens to CDC for RMSF Testing + +Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. +State Health Departments + +Specimens may be submitted to CDC for testing for rickettsial diseases, including RMSF. To coordinate specimen submission, please call 404 639 1075 during business hours (8:00 - 4:30 ET). +U.S. Healthcare Providers + +U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of an infected patient. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect RMSF case, please first consult your state health department. Healthcare providers requiring an epidemiologic consultation on rickettsial diseases may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. +Non-U.S. Healthcare Providers + +Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect rickettsial case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.",CDC,Rocky Mountain Spotted Fever (RMSF) +What is (are) Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?,"Acanthamoeba is a microscopic, free-living ameba (single-celled living organism) commonly found in the environment that can cause rare, but severe, illness. Acanthamoeba causes three main types of illness involving the eye (Acanthamoeba keratitis), the brain and spinal cord (Granulomatous Encephalitis), and infections that can spread throughout the entire body (disseminated infection).",CDC,Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis +Who is at risk for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis? ?,"Acanthamoeba keratitis + + +Acanthamoeba keratitis is a rare disease that can affect anyone, but is most common in individuals who wear contact lenses. In the United States, an estimated 85% of cases occur in contact lens users. The incidence of the disease in developed countries is approximately one to 33 cases per million contact lens wearers. + +For people who wear contact lenses, certain practices can increase the risk of getting Acanthamoeba keratitis: + + - Storing and handling lenses improperly + - Disinfecting lenses improperly (such as using tap water or topping off solutions when cleaning the lenses or lens case) + - Swimming, using a hot tub, or showering while wearing lenses + - Coming into contact with contaminated water + - Having a history of trauma to the cornea + + +Contact lens wearers who practice proper lens care and non-contact lens wearers can still develop the infection. For additional information on contact lens care and prevention of Acanthamoeba keratitis visit CDC’s web page on Prevention and Control. + +There have been no reports of Acanthamoeba keratitis being spread from one person to another. + Granulomatous Amebic Encephalitis (GAE) + +Granulomatous Amebic Encephalitis (GAE) and disseminated infection are very rare forms of Acanthamoeba infection and primarily affect people with compromised immune systems. While unusual, disseminated infection can also affect healthy children and adults. Conditions that may increase a patient’s risk for GAE and disseminated infection include: + + - AIDS + - Organ/Tissue transplant + - Steroids or excessive use of antibiotics + - Diabetes Mellitus + - Cancer + - Disorders in which white blood cells in the lymphatic tissue are over-produced or abnormal + - Disorders in which blood cells or blood clotting mechanisms do not function properly or are abnormal + - Liver cirrhosis + - Lupus",CDC,Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis +How to diagnose Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?,"Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. The infection is usually diagnosed by an eye specialist based on symptoms, growth of the ameba from a scraping of the eye, and/or seeing the ameba by a process called confocal microscopy. + +Granulomatous Amebic Encephalitis (GAE) and disseminated infection are more difficult to diagnose and are often at advanced stages when they are diagnosed. Tests useful in the diagnosis of GAE include brain scans, biopsies, or spinal taps. In disseminated disease, biopsy of the involved sites (e.g. , skin, sinuses) can be useful in diagnosis.",CDC,Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis +What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?,"Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. If you suspect your eye may be infected with Acanthamoeba, see an eye doctor immediately. + +Skin infections that are caused by Acanthamoeba but have not spread to the central nervous system can be successfully treated. Because this is a serious infection and the people affected typically have weakened immune systems, early diagnosis offers the best chance at cure. + +Most cases of brain and spinal cord infection with Acanthamoeba (Granulomatous Amebic Encephalitis) are fatal.",CDC,Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis +How to prevent Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ?,Topics,CDC,Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis +What is (are) Parasites - Scabies ?,"Scabies is an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The microscopic scabies mite burrows into the upper layer of the skin where it lives and lays its eggs. The most common symptoms of scabies are intense itching and a pimple-like skin rash. The scabies mite usually is spread by direct, prolonged, skin-to-skin contact with a person who has scabies. +Scabies is found worldwide and affects people of all races and social classes. Scabies can spread rapidly under crowded conditions where close body and skin contact is frequent. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations.",CDC,Parasites - Scabies +Who is at risk for Parasites - Scabies? ?,"Transmission + +Human scabies is caused by an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The adult female scabies mites burrow into the upper layer of the skin (epidermis) where they live and deposit their eggs. The microscopic scabies mite almost always is passed by direct, prolonged, skin-to-skin contact with a person who already is infested. An infested person can spread scabies even if he or she has no symptoms. Humans are the source of infestation; animals do not spread human scabies. + Persons At Risk + +Scabies can be passed easily by an infested person to his or her household members and sexual partners. Scabies in adults frequently is sexually acquired. + +Scabies is a common condition found worldwide; it affects people of all races and social classes. Scabies can spread easily under crowded conditions where close body and skin contact is common. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations. + Crusted (Norwegian) Scabies + +Some immunocompromised, elderly, disabled, or debilitated persons are at risk for a severe form of scabies called crusted, or Norwegian, scabies. Persons with crusted scabies have thick crusts of skin that contain large numbers of scabies mites and eggs. The mites in crusted scabies are not more virulent than in non-crusted scabies; however, they are much more numerous (up to 2 million per patient). Because they are infested with such large numbers of mites, persons with crusted scabies are very contagious to other persons. In addition to spreading scabies through brief direct skin-to-skin contact, persons with crusted scabies can transmit scabies indirectly by shedding mites that contaminate items such as their clothing, bedding, and furniture. Persons with crusted scabies should receive quick and aggressive medical treatment for their infestation to prevent outbreaks of scabies.",CDC,Parasites - Scabies +How to diagnose Parasites - Scabies ?,"Diagnosis of a scabies infestation usually is made based upon the customary appearance and distribution of the the rash and the presence of burrows. + +Whenever possible, the diagnosis of scabies should be confirmed by identifying the mite or mite eggs or fecal matter (scybala). This can be done by carefully removing the mite from the end of its burrow using the tip of a needle or by obtaining a skin scraping to examine under a microscope for mites, eggs, or mite fecal matter (scybala). However, a person can still be infested even if mites, eggs, or fecal matter cannot be found; fewer then 10-15 mites may be present on an infested person who is otherwise healthy.",CDC,Parasites - Scabies +What are the treatments for Parasites - Scabies ?,"Suggested General Guidelines + + + + +It is important to remember that the first time a person gets scabies they usually have no symptoms during the first 2 to 6 weeks they are infested; however they can still spread scabies during this time. + +Treatment should be given to both the infested person and to household members and sexual contacts, particularly those who have had prolonged direct skin-to-skin contact with the infested person. Both sexual and close personal contacts who have had direct prolonged skin-to-skin contact with an infested person within the preceding month should be examined and treated. All persons should be treated at the same time to prevent reinfestation. Scabies may sometimes be sexually-acquired in adults, but is rarely sexually-acquired in children. + +Bedding, clothing, and towels used by infested persons or their household, sexual, and close contacts (as defined above) anytime during the three days before treatment should be decontaminated by washing in hot water and drying in a hot dryer, by dry-cleaning, or by sealing in a plastic bag for at least 72 hours. Scabies mites generally do not survive more than 2 to 3 days away from human skin. + +Use of insecticide sprays and fumigants is not recommended. + + Medications Used to Treat Scabies + + + + +Products used to treat scabies are called scabicides because they kill scabies mites; some also kill mite eggs. Scabicides used to treat human scabies are available only with a doctor’s prescription. No “over-the-counter” (non-prescription) products have been tested and approved to treat scabies. + +Scabicide should be applied to all areas of the body from the neck down to the feet and toes. In addition, when treating infants and young children, scabicide also should be applied to their entire head and neck because scabies can affect their face, scalp, and neck, as well as the rest of their body. The scabicide should be applied to a clean body and left on for the recommended time before washing it off. Clean clothing should be worn after treatment. + +The instructions contained in the box or printed on the label always should be followed carefully. Always contact a doctor or pharmacist if unsure how to use a particular medicine. + +Because the symptoms of scabies are due to a hypersensitivity reaction (allergy) to mites and their feces (scybala), itching still may continue for several weeks after treatment even if all the mites and eggs are killed. If itching still is present more than 2 to 4 weeks after treatment or if new burrows or pimple-like rash lesions continue to appear, retreatment may be necessary. + +Skin sores that become infected should be treated with an appropriate antibiotic prescribed by a doctor.",CDC,Parasites - Scabies +How to prevent Parasites - Scabies ?,"When a person is infested with scabies mites the first time, symptoms may not appear for up to two months after being infested. However, an infested person can transmit scabies, even if they do not have symptoms. Scabies usually is passed by direct, prolonged skin-to-skin contact with an infested person. However, a person with crusted (Norwegian) scabies can spread the infestation by brief skin-to-skin contact or by exposure to bedding, clothing, or even furniture that he/she has used. + +Scabies is prevented by avoiding direct skin-to-skin contact with an infested person or with items such as clothing or bedding used by an infested person. Scabies treatment usually is recommended for members of the same household, particularly for those who have had prolonged skin-to-skin contact. All household members and other potentially exposed persons should be treated at the same time as the infested person to prevent possible reexposure and reinfestation. Bedding and clothing worn or used next to the skin anytime during the 3 days before treatment should be machine washed and dried using the hot water and hot dryer cycles or be dry-cleaned. Items that cannot be dry-cleaned or laundered can be disinfested by storing in a closed plastic bag for several days to a week. Scabies mites generally do not survive more than 2 to 3 days away from human skin. Children and adults usually can return to child care, school, or work the day after treatment. + +Persons with crusted scabies and their close contacts, including household members, should be treated rapidly and aggressively to avoid outbreaks. Institutional outbreaks can be difficult to control and require a rapid, aggressive, and sustained response. + +Rooms used by a patient with crusted scabies should be thoroughly cleaned and vacuumed after use. Environmental disinfestation using pesticide sprays or fogs generally is unnecessary and is discouraged.",CDC,Parasites - Scabies +What is (are) Parasites - Trichuriasis (also known as Whipworm Infection) ?,Whipworm (Trichuris trichiura) is an intestinal parasite of humans. The larvae and adult worms live in the intestine of humans and can cause intestinal disease. The name is derived from the worm’s distinctive whip-like shape.,CDC,Parasites - Trichuriasis (also known as Whipworm Infection) +Who is at risk for Parasites - Trichuriasis (also known as Whipworm Infection)? ?,"Whipworm is a soil-transmitted helminth (STH) and is the third most common roundworm of humans. Whipworm causes an infection called trichuriasis and often occurs in areas where human feces is used as fertilizer or where defecation onto soil happens. The worms are spread from person to person by fecal-oral transmission or through feces-contaminated food. + Geographic Distribution +Worldwide, infection occurs more frequently in areas with tropical weather and poor sanitation practices, and among children. In 2002, the estimated number of persons infected with whipworm was 1 billion. Trichuriasis also occurs in the southern United States.",CDC,Parasites - Trichuriasis (also known as Whipworm Infection) +How to diagnose Parasites - Trichuriasis (also known as Whipworm Infection) ?,"The standard method for diagnosing the presence of whipworm is by microscopically identifying whipworm eggs in a stool sample. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.",CDC,Parasites - Trichuriasis (also known as Whipworm Infection) +What are the treatments for Parasites - Trichuriasis (also known as Whipworm Infection) ?,"Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment. Infections are generally treated for 3 days. The recommended medications are effective. Health care providers may decide to repeat a stool exam after treatment. Iron supplements may also be prescribed if the infected person suffers from anemia. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Trichuriasis (also known as Whipworm Infection) +How to prevent Parasites - Trichuriasis (also known as Whipworm Infection) ?,"The best way to prevent whipworm infection is to always: + + - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter (""night soil"") or wastewater is used to fertilize crops. + - Wash your hands with soap and warm water before handling food. + - Teach children the importance of washing hands to prevent infection. + - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. + + +More on: Handwashing + +Transmission of infection to others can be prevented by + + - Not defecating outdoors. + - Effective sewage disposal systems.",CDC,Parasites - Trichuriasis (also known as Whipworm Infection) +What are the symptoms of Anaplasmosis ?,"Anaplasmosis is a disease caused by the bacterium Anaplasma phagocytophilium. This pathogen is transmitted to humans by the bite of an infected tick. The black-legged tick (Ixodes scapularis) is the vector of A. phagocytophilum in the northeast and upper midwestern United States. The western black-legged tick (Ixodes pacificus) is the primary vector in Northern California. The first symptoms of anaplasmosis typically begin within 1-2 weeks after the bite of an infected tick. A tick bite is usually painless, and some patients who develop anaplasmosis do not remember being bitten. The following is a list of symptoms commonly seen with this disease. However, it is important to note that few people with the disease will develop all symptoms, and the number and combination of symptoms varies greatly from person to person. + + - Fever + - Headache + - Muscle pain + - Malaise + - Chills + - Nausea / Abdominal pain + - Cough + - Confusion + - Rash (rare with anaplasmosis) + + +Anaplasmosis can be a serious illness that can be fatal if not treated correctly, even in previously healthy people. Severe clinical presentations may include difficulty breathing, hemorrhage, renal failure or neurological problems. The estimated case fatality rate (i.e., the proportion of persons who die as a result of their infection) is less than 1%. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. + + + Rash + +Rash is rarely reported in patients with anaplasmosis and the presence of a rash may signify that the patient has a coinfection with the pathogen that causes Lyme disease or another tickborne disease, such as Rocky Mountain Spotted Fever . + + + Immune-compromised Individuals + +The severity of anaplasmosis may depend in part on the immune status of the patient. Persons with compromised immunity caused by immunosuppressive therapies (e.g., corticosteroids, cancer chemotherapy, or longterm immunosuppressive therapy following organ transplant), HIV infection, or splenectomy appear to develop more severe disease, and case-fatality rates for these individuals are characteristically higher than case-fatality rates reported for the general population. + + + Blood Transfusion and Organ Transplant Risks Associated with Anaplasma species + +Because A. phagocytophilum infects the white blood cells and circulates in the blood stream, this pathogen may pose a risk to be transmitted through blood transfusions. Anaplasma phagocytophilum has been shown to survive for more than a week in refrigerated blood. Several cases of anaplasmosis have been reported associated with the transfusion of packed red blood cells donated from asymptomatic or acutely infected donors. Patients who develop anaplasmosis within a month of receiving a blood transfusion or solid organ transplant should be reported to state health officials for prompt investigation. Use of leukoreduced blood products may theoretically decrease the risk of transfusion-associated transmission of these pathogens. However, the filtration process does not remove all leukocytes or bacteria not associated with leukocytes from leukoreduced blood. Therefore, while this process may reduce the risk of transmission, it does not eliminate it completely. + + + Physician Diagnosis + +There are several aspects of anaplasmosis that make it challenging for healthcare providers to diagnose and treat. The symptoms vary from patient to patient and can be difficult to distinguish from other diseases. Treatment is more likely to be effective if started early in the course of disease. Diagnostic tests based on the detection of antibodies will frequently appear negative in the first 7-10 days of illness. + +For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical diagnosis. Information such as recent tick bites, exposure to areas where ticks are likely to be found, or history of recent travel to areas where anaplasmosis is endemic can be helpful in making the diagnosis. The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low white blood cell count (leukopenia), or elevated liver enzyme levels are helpful predictors of anaplasmosis, but may not be present in all patients. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of anaplasmosis. + + + + + + + + Laboratory Detection + +During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has anaplasmosis. This method is most sensitive in the first week of illness, and rapidly decreases in sensitivity following the administration of appropriate antibiotics. Although a positive PCR result is helpful, a negative result does not completely rule out the diagnosis, and treatment should not be with held due to a negative result. + +During the first week of illness a microscopic examination of blood smears (known as a peripheral blood smear) may reveal morulae (microcolonies of anaplasma) in the cytoplasm of white blood cells in up to 20% of patients. During A. phagocytophilum infection, morulae are most frequently observed in granulocytes. However, the observance of morulae in a particular cell type cannot conclusively identify the infecting species. Culture isolation of A. phagocytophilum is only available at specialized laboratories; routine hospital blood cultures cannot detect the organism. + Figure 1: Morulae detected in a granulocyte on a peripheral blood smear, associated with A. phagocytophilum infection. + + + + + + + +When a person develops anaplasmosis, their immune system produces antibodies to A. phagocytophilum, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that a negative test during the first week of illness does not rule out anaplasmosis as a cause of illness. + +The gold standard serologic test for diagnosis of anaplasmosis is the indirect immunofluorescence assay (IFA) using A. phagocytophilum antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of anaplasmosis, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. + +Serologic tests based on enzyme immunoassay (EIA) technology are available from some commercial laboratories. However, EIA tests are qualitative rather than quantitative, meaning they only provide a positive/negative result, and are less useful to measure changes in antibody titers between paired specimens. Furthermore, some EIA assays rely on the evaluation of IgM antibody alone, which may have a higher frequency of false positive results. + +Antibodies to A. phagocytophilum may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Between 5-10% of currently healthy people in some areas may have elevated antibody titers due to past exposure to A. phagocytophilum or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, while paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of anaplasmosis. + +For more in-depth information about the diagnosis of anaplasmosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + + Treatment + +Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever anaplasmosis is suspected. + +Use of antibiotics other than doxycycline or other tetracyclines has been associated with a higher risk of fatal outcome for some rickettsial infections. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return. + +If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to anaplasmosis. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course have not been documented. + +Recommended Dosage +Doxycycline is the first line treatment for adults and children of all ages: + + - Adults: 100 mg every 12 hours + - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day + + +Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7 to 14 days. Some patients may continue to experience headache, weakness and malaise for weeks after adequate treatment. + Treating children + +The use of doxycycline to treat suspected anaplasmosis in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Unlike older generations of tetracyclines, the recommended dose and duration of medication needed to treat anaplasmosis has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected anaplasmosis in patients of all ages. + Other Treatments + +In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of anaplasmosis appears mild, physicians may need to consider alternate antibiotics. Although recommended as a second-line therapeutic alternative to treat Rocky Mountain Spotted Fever , chloramphenicol is not recommended for the treatment of anaplasmosis, as studies have shown a lack of efficacy. Rifampin has been used successfully in several pregnant women with anaplasmosis, and studies suggest that this drug appears effective against Anaplasma species. However, rifampin is not effective in treating RMSF, a disease that may be confused with anaplasmosis. Healthcare providers should be cautious when exploring treatments other than doxycycline, which is highly effective in treating both. Other antibiotics, including broad spectrum antibiotics are not considered highly effective against A. phagocytophilum, and the use of sulfa drugs during acute illness may worsen the severity of infection. + Prophylaxis (Preventive Treatment) + +Antibiotic treatment following a tick bite is not recommended as a means to prevent anaplasmosis. There is no evidence this practice is effective, and this may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. + +For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + + Other Considerations + +The clinical presentation for anaplasmosis can resemble other tickborne diseases, such as Rocky Mountain Spotted Fever and ehrlichiosis. Similar to anaplasmosis, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm .",CDC,Anaplasmosis +What is (are) Anaplasmosis ?,"More detailed information on the diagnosis, management, and treatment of anaplasmosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States. +*Case definitions have been updated since publication + How to Contact the Rickettsial Zoonoses Branch at CDC + +The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding RMSF and other rickettsial diseases. If a consultation with a CDC scientist specializing in rickettsial diseases is advised, your call will be appropriately forwarded. + Case Definitions + +2008 Case Definition + Case Report Forms + +For confirmed and probable cases of anaplasmosis that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. + +2010 CDC Case Report Form: Tickborne Rickettsial Diseases (2010 version) [PDF – 3 pages] + How to Submit Specimens to CDC for RMSF Testing + +Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. + State Health Departments + +Specimens may be submitted to CDC for testing for anaplasmosis. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). + U.S. Healthcare Providers: + +U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of infection. For general questions about anaplasmosis, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect ehrlichiosis case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on anaplasmosis may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. + Non U.S. Healthcare Providers: + +Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about anaplasmosis, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect anaplasmosis case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.",CDC,Anaplasmosis +Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ?,"Transmission of AHFV is not well understood. AHFV is a zoonotic virus, and its described tick hosts (the soft tick Ornithodoros savignyi and the hard tick Hyalomma dromedari) are widely distributed. People can become infected through a tick bite or when crushing infected ticks. Epidemiologic studies indicate that contact with domestic animals or livestock may increase the risk of human infection. No human-to-human transmission of AHF has been documented. + +Although livestock animals may provide blood meals for ticks, it is thought that they play a minor role in transmitting AHFV to humans. No transmission through non-pasteurized milk has been described, although other tick-borne flaviviruses have been transmitted to humans through this route.",CDC,Alkhurma Hemorrhagic Fever (AHF) +What are the symptoms of Alkhurma Hemorrhagic Fever (AHF) ?,"Based on limited information, after an incubation period that could be as short as 2-4 days, the disease presents initially with non-specific flu-like symptoms, including fever, anorexia (loss of appetite), general malaise, diarrhea, and vomiting; a second phase has appeared in some patients, and includes neurologic and hemorrhagic symptoms in severe form. Multi-organ failure precedes fatal outcomes. No repeated or chronic symptoms have been reported following recovery. Evidence suggests that a milder form may exist, where hospitalization is not required. + +Thrombocytopenia, leukopenia, and elevated liver enzymes are nearly always observed in patients who have been hospitalized.",CDC,Alkhurma Hemorrhagic Fever (AHF) +Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ?,"Contact with livestock with tick exposure are risk factors for humans, as is contact with infected ticks, whether through crushing the infected tick with unprotected fingers or by a bite from an infected tick. Slaughtering of animals which may acutely but asymptomatically infected may also be a risk factor, as it is possible that infected animals develop a viremia without obvious clinical signs.",CDC,Alkhurma Hemorrhagic Fever (AHF) +How to diagnose Alkhurma Hemorrhagic Fever (AHF) ?,"Clinical diagnosis could be difficult due to similarities between AVHF, Crimean-Congo Hemorrhagic fever (CCHF), and Rift Valley fever (RVF), which occur in similar geographic areas. Laboratory diagnosis of AHF can be made in the early stage of the illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.",CDC,Alkhurma Hemorrhagic Fever (AHF) +What are the treatments for Alkhurma Hemorrhagic Fever (AHF) ?,"There is no standard specific treatment for the disease. Patients receive supportive therapy, which consists of balancing the patient’s fluid and electrolytes, maintaining oxygen status and blood pressure, and treatment for any complications. Mortality in hospitalized patients ranges from 1-20%.",CDC,Alkhurma Hemorrhagic Fever (AHF) +How to prevent Alkhurma Hemorrhagic Fever (AHF) ?,"Given that no treatment or specific prophylaxis is presently available, prevention and increased awareness of AHFV are the only recommended measures. Complete control of ticks and interruption of the virus life cycle is impractical; in endemic regions, it is important to avoid tick-infested areas and to limit contact with livestock and domestic animals. + +Individuals should use tick repellants on skin and clothes and check skin for attached ticks, removing them as soon as possible. Tick collars are available for domestic animals, and dipping in acaricides is effective in killing ticks on livestock. People working with animals or animal products in farms or slaughterhouses should avoid unprotected contact with the blood, fluids, or tissues of any potentially infected or viremic animals.",CDC,Alkhurma Hemorrhagic Fever (AHF) +What is (are) Parasites - Leishmaniasis ?,"Leishmaniasis is a parasitic disease that is found in parts of the tropics, subtropics, and southern Europe. Leishmaniasis is caused by infection with Leishmania parasites, which are spread by the bite of infected sand flies. There are several different forms of leishmaniasis in people. The most common forms are cutaneous leishmaniasis, which causes skin sores, and visceral leishmaniasis, which affects several internal organs (usually spleen, liver, and bone marrow).",CDC,Parasites - Leishmaniasis +Who is at risk for Parasites - Leishmaniasis? ?,"Leishmaniasis is found in people in focal areas of more than 90 countries in the tropics, subtropics, and southern Europe. The ecologic settings range from rain forests to deserts. Leishmaniasis usually is more common in rural than in urban areas, but it is found in the outskirts of some cities. Climate and other environmental changes have the potential to expand the geographic range of the sand fly vectors and the areas in the world where leishmaniasis is found. + +Leishmaniasis is found on every continent except Australia and Antarctica. + + - In the Old World (the Eastern Hemisphere), leishmaniasis is found in some parts of Asia, the Middle East, Africa (particularly in the tropical region and North Africa, with some cases elsewhere), and southern Europe. It is not found in Australia or the Pacific islands. + - In the New World (the Western Hemisphere), it is found in some parts of Mexico, Central America, and South America. It is not found in Chile or Uruguay. Occasional cases of cutaneous leishmaniasis have been acquired in Texas and Oklahoma. + + +The number of new cases per year is not known with certainty. For cutaneous leishmaniasis, estimates of the number of cases range from approximately 0.7 million (700,000) to 1.2 million (1,200,000). For visceral leishmaniasis, estimates of the number of cases range from approximately 0.2 million (200,000) to 0.4 million (400,000). The cases of leishmaniasis evaluated in the United States reflect travel and immigration patterns. For example, many of the cases of cutaneous leishmaniasis in U.S. civilian travelers have been acquired in common tourist destinations in Latin America, such as in Costa Rica. + +Overall, infection in people is caused by more than 20 species (types) of Leishmania parasites, which are spread by about 30 species of phlebotomine sand flies; particular species of the parasite are spread by particular sand flies. The sand fly vectors generally are the most active during twilight, evening, and night-time hours (from dusk to dawn). + +In many geographic areas where leishmaniasis is found in people, infected people are not needed to maintain the transmission cycle of the parasite in nature; infected animals (such as rodents or dogs), along with sand flies, maintain the cycle. However, in some parts of the world, infected people are needed to maintain the cycle; this type of transmission (human—sand fly—human) is called anthroponotic. In areas with anthroponotic transmission, effective treatment of individual patients can help control the spread of the parasite.",CDC,Parasites - Leishmaniasis +How to diagnose Parasites - Leishmaniasis ?,"Various laboratory methods can be used to diagnose leishmaniasis—to detect the parasite as well as to identify the Leishmania species (type). Some of the methods are available only in reference laboratories. In the United States, CDC staff can assist with the testing for leishmaniasis. + +Tissue specimens—such as from skin sores (for cutaneous leishmaniasis) or from bone marrow (for visceral leishmaniasis)—can be examined for the parasite under a microscope, in special cultures, and in other ways. Blood tests that detect antibody (an immune response) to the parasite can be helpful for cases of visceral leishmaniasis; tests to look for the parasite itself usually also are done. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Leishmaniasis +What are the treatments for Parasites - Leishmaniasis ?,"Before considering treatment, the first step is to make sure the diagnosis is correct. + +Treatment decisions should be individualized. Health care providers may consult CDC staff about the relative merits of various approaches. Examples of factors to consider include the form of leishmaniasis, the Leishmania species that caused it, the potential severity of the case, and the patient's underlying health. + +The skin sores of cutaneous leishmaniasis usually heal on their own, even without treatment. But this can take months or even years, and the sores can leave ugly scars. Another potential concern applies to some (not all) types of the parasite found in parts of Latin America: certain types might spread from the skin and cause sores in the mucous membranes of the nose (most common location), mouth, or throat (mucosal leishmaniasis). Mucosal leishmaniasis might not be noticed until years after the original sores healed. The best way to prevent mucosal leishmaniasis is to ensure adequate treatment of the cutaneous infection. + +If not treated, severe (advanced) cases of visceral leishmaniasis typically are fatal. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Leishmaniasis +How to prevent Parasites - Leishmaniasis ?,"No vaccines or drugs to prevent infection are available. The best way for travelers to prevent infection is to protect themselves from sand fly bites. To decrease the risk of being bitten, follow these preventive measures: + +Avoid outdoor activities, especially from dusk to dawn, when sand flies generally are the most active. + +When outdoors (or in unprotected quarters): + + - Minimize the amount of exposed (uncovered) skin. To the extent that is tolerable in the climate, wear long-sleeved shirts, long pants, and socks; and tuck your shirt into your pants. (See below about wearing insecticide-treated clothing.) + - Apply insect repellent to exposed skin and under the ends of sleeves and pant legs. Follow the instructions on the label of the repellent. The most effective repellents generally are those that contain the chemical DEET (N,N-diethylmetatoluamide). + + + + + + + + + + + + + + + + +When indoors: + + - Stay in well-screened or air-conditioned areas. + - Keep in mind that sand flies are much smaller than mosquitoes and therefore can get through smaller holes. + - Spray living/sleeping areas with an insecticide to kill insects. + - If you are not sleeping in a well-screened or air-conditioned area, use a bed net and tuck it under your mattress. If possible, use a bed net that has been soaked in or sprayed with a pyrethroid-containing insecticide. The same treatment can be applied to screens, curtains, sheets, and clothing (clothing should be retreated after five washings). + + +More on: Insect Bite Prevention",CDC,Parasites - Leishmaniasis +What is (are) Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?,Frequently Asked Queestions (FAQs),CDC,Parasites - African Trypanosomiasis (also known as Sleeping Sickness) +Who is at risk for Parasites - African Trypanosomiasis (also known as Sleeping Sickness)? ?,"There are two subspecies of the parasite Trypanosoma brucei that cause disease in humans. The clinical features of the infection depend on the subspecies involved. The two subspecies are found in different regions of Africa. At present, there is no overlap in their geographic distribution. + +T. b. rhodesiense (East African sleeping sickness) is found in focal areas of eastern and southeastern Africa. Each year a few hundred cases are reported to the World Health Organization. Over 95% of the cases of human infection occur in Tanzania, Uganda, Malawi, and Zambia. Animals are the primary reservoir of infection. Cattle have been implicated in the spread of the disease to new areas and in local outbreaks. A wild animal reservoir is thought to be responsible for sporadic transmission to hunters and visitors to game parks. Infection of international travelers is rare, but it occasionally occurs. In the U.S., one case per year, on average, is diagnosed. Most cases of sleeping sickness imported into the U.S. have been in travelers who were on safari in East Africa. + +T. b. gambiense (West African sleeping sickness) is found predominantly in central Africa and in limited areas of West Africa. Most of the sleeping sickness in Africa is caused by this form of the parasite. Epidemics of sleeping sickness have been a significant public health problem in the past, but the disease is reasonably well-controlled at present, with 7,000-10,000 cases reported annually in recent years. Over 95% of the cases of human infection are found in Democratic Republic of Congo, Angola, Sudan, Central African Republic, Chad, and northern Uganda. Humans are the important reservoir of infection, although the parasite can sometimes be found in domestic animals (e.g., pigs, dogs, goats). Imported infection in the U.S. is extremely rare, and most cases have occurred in African nationals who have immigrated rather than in returning U.S. travelers. + + + + +Both forms of sleeping sickness are transmitted by the bite of the tsetse fly (Glossina species). Tsetse flies inhabit rural areas, living in the woodlands and thickets that dot the East African savannah. In central and West Africa, they live in the forests and vegetation along streams. Tsetse flies bite during daylight hours. Both male and female flies can transmit the infection, but even in areas where the disease is endemic, only a very small percentage of flies are infected. Although the vast majority of infections are transmitted by the tsetse fly, other modes of transmission are possible. Occasionally, a pregnant woman can pass the infection to her unborn baby. In theory, the infection can also be transmitted by blood transfusion or sexual contact, but such cases have rarely been documented. + + + + +This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.",CDC,Parasites - African Trypanosomiasis (also known as Sleeping Sickness) +How to diagnose Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?,"The diagnosis of African Trypanosomiasis is made through laboratory methods, because the clinical features of infection are not sufficiently specific. The diagnosis rests on finding the parasite in body fluid or tissue by microscopy. The parasite load in T. b. rhodesiense infection is substantially higher than the level in T. b. gambiense infection. + +T. b. rhodesiense parasites can easily be found in blood. They can also be found in lymph node fluid or in fluid or biopsy of a chancre. Serologic testing is not widely available and is not used in the diagnosis, since microscopic detection of the parasite is straightforward. + +The classic method for diagnosing T. b. gambiense infection is by microscopic examination of lymph node aspirate, usually from a posterior cervical node. It is often difficult to detect T. b. gambiense in blood. Concentration techniques and serial examinations are frequently needed. Serologic testing is available outside the U.S. for T. b. gambiense; however, it normally is used for screening purposes only and the definitive diagnosis rests on microscopic observation of the parasite. + +All patients diagnosed with African trypanosomiasis must have their cerebrospinal fluid examined to determine whether there is involvement of the central nervous system, since the choice of treatment drug(s) will depend on the disease stage. The World Health Organization criteria for central nervous system involvement include increased protein in cerebrospinal fluid and a white cell count of more than 5. Trypanosomes can often be observed in cerebrospinal fluid in persons with second stage infection. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - African Trypanosomiasis (also known as Sleeping Sickness) +What are the treatments for Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?,"All persons diagnosed with African Trypanosomiasis should receive treatment. The specific drug and treatment course will depend on the type of infection (T. b. gambiense or T. b. rhodesiense) and the disease stage (i.e. whether the central nervous system has been invaded by the parasite). Pentamidine, which is the recommended drug for first stage T. b. gambiense infection, is widely available in the U.S. The other drugs (suramin, melarsoprol, eflornithine, and nifurtimox) used to treat African trypanosomiasis are available in the U.S. only from the CDC. Physicians can consult with CDC staff for advice on diagnosis and management and to obtain otherwise unavailable treatment drug. + +There is no test of cure for African trypanosomiasis. After treatment patients need to have serial examinations of their cerebrospinal fluid for 2 years, so that relapse can be detected if it occurs. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - African Trypanosomiasis (also known as Sleeping Sickness) +How to prevent Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?,"There is no vaccine or drug for prophylaxis against African trypanosomiasis. Preventive measures are aimed at minimizing contact with tsetse flies. Local residents are usually aware of the areas that are heavily infested and they can provide advice about places to avoid. Other helpful measures include: + + - Wear long-sleeved shirts and pants of medium-weight material in neutral colors that blend with the background environment. Tsetse flies are attracted to bright or dark colors, and they can bite through lightweight clothing. + - Inspect vehicles before entering. The flies are attracted to the motion and dust from moving vehicles. + - Avoid bushes. The tsetse fly is less active during the hottest part of the day but will bite if disturbed. + - Use insect repellent. Permethrin-impregnated clothing and insect repellent have not been proved to be particularly effective against tsetse flies, but they will prevent other insect bites that can cause illness. + + +Control of African trypanosomiasis rests on two strategies: reducing the disease reservoir and controlling the tsetse fly vector. Because humans are the significant disease reservoir for T. b. gambiense, the main control strategy for this subspecies is active case-finding through population screening, followed by treatment of the infected persons that are identified. Tsetse fly traps are sometimes used as an adjunct. Reducing the reservoir of infection is more difficult for T. b. rhodesiense, since there are a variety of animal hosts. Vector control is the primary strategy in use. This is usually done with traps or screens, in combination with insecticides and odors that attract the flies.",CDC,Parasites - African Trypanosomiasis (also known as Sleeping Sickness) +Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ?,"Ixodid (hard) ticks, especially those of the genus, Hyalomma, are both a reservoir and a vector for the CCHF virus. Numerous wild and domestic animals, such as cattle, goats, sheep and hares, serve as amplifying hosts for the virus. Transmission to humans occurs through contact with infected ticks or animal blood. CCHF can be transmitted from one infected human to another by contact with infectious blood or body fluids. Documented spread of CCHF has also occurred in hospitals due to improper sterilization of medical equipment, reuse of injection needles, and contamination of medical supplies.",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +What are the symptoms of Crimean-Congo Hemorrhagic Fever (CCHF) ?,"The onset of CCHF is sudden, with initial signs and symptoms including headache, high fever, back pain, joint pain, stomach pain, and vomiting. Red eyes, a flushed face, a red throat, and petechiae (red spots) on the palate are common. Symptoms may also include jaundice, and in severe cases, changes in mood and sensory perception. + +As the illness progresses, large areas of severe bruising, severe nosebleeds, and uncontrolled bleeding at injection sites can be seen, beginning on about the fourth day of illness and lasting for about two weeks. In documented outbreaks of CCHF, fatality rates in hospitalized patients have ranged from 9% to as high as 50%. + +The long-term effects of CCHF infection have not been studied well enough in survivors to determine whether or not specific complications exist. However, recovery is slow.",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ?,"Animal herders, livestock workers, and slaughterhouse workers in endemic areas are at risk of CCHF. Healthcare workers in endemic areas are at risk of infection through unprotected contact with infectious blood and body fluids. Individuals and international travelers with contact to livestock in endemic regions may also be exposed.",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +How to diagnose Crimean-Congo Hemorrhagic Fever (CCHF) ?,"Laboratory tests that are used to diagnose CCHF include antigen-capture enzyme-linked immunosorbent assay (ELISA), real time polymerase chain reaction (RT-PCR), virus isolation attempts, and detection of antibody by ELISA (IgG and IgM). Laboratory diagnosis of a patient with a clinical history compatible with CCHF can be made during the acute phase of the disease by using the combination of detection of the viral antigen (ELISA antigen capture), viral RNA sequence (RT-PCR) in the blood or in tissues collected from a fatal case and virus isolation. Immunohistochemical staining can also show evidence of viral antigen in formalin-fixed tissues. Later in the course of the disease, in people surviving, antibodies can be found in the blood. But antigen, viral RNA and virus are no more present and detectable",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +What are the treatments for Crimean-Congo Hemorrhagic Fever (CCHF) ?,"Treatment for CCHF is primarily supportive. Care should include careful attention to fluid balance and correction of electrolyte abnormalities, oxygenation and hemodynamic support, and appropriate treatment of secondary infections. The virus is sensitive in vitro to the antiviral drug ribavirin. It has been used in the treatment of CCHF patients reportedly with some benefit. +Recovery + +The long-term effects of CCHF infection have not been studied well enough in survivors to determine whether or not specific complications exist. However, recovery is slow.",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ?,"Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure. + +An inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs.",CDC,Crimean-Congo Hemorrhagic Fever (CCHF) +What is (are) Parasites - Baylisascaris infection ?,"Baylisascaris worms are intestinal parasites found in a wide variety of animals. Different species of Baylisascaris are associated with different animal hosts. For example, Baylisascaris procyonis is found in raccoons and Baylisascaris columnaris is an intestinal parasite found in skunks. Cases of Baylisascaris infection in people are not frequently reported, but can be severe. Baylisascaris procyonis is thought to pose the greatest risk to humans because of the often close association of raccoons to human dwellings.",CDC,Parasites - Baylisascaris infection +Who is at risk for Parasites - Baylisascaris infection? ?,"Raccoons are the primary, or definitive, host of Baylisascaris procyonis, a roundworm. Raccoons become infected with Baylisascaris in one of two ways: + + - Young raccoons become infected by eating eggs during foraging, feeding, and grooming. + - Adult raccoons acquire the infection by eating rodents, rabbits, and birds infected with the larvae of Baylisascaris. + + +Infected raccoons have been found throughout the United States, mainly in the Midwest, Northeast, Middle Atlantic, and West Coast. + +Raccoons are peridomestic animals, which means they live in or around areas where people live. Roundworm eggs are passed in the feces of infected raccoons. Raccoons defecate in communal sites, called latrines. Raccoon latrines are often found at bases of trees, unsealed attics, or on flat surfaces such as logs, tree stumps, rocks, decks, and rooftops. As more raccoons move into populated areas, the number and density of their latrines will increase. + +While raccoons are the roundworm's primary host, other types of animals can become infected. Birds and small mammals, such as rodents and rabbits, are susceptible to the parasite. Unlike raccoons, these animals sometimes show signs of infection, such as muscle spasms, tremors, and progressive weakness; infection can lead to death. Predator animals, including dogs, may become infected by eating an animal that has been infected with Baylisascaris. In some dogs, Baylisascaris may develop to adult worms and pass eggs in the dogs' feces. + +The worms develop to maturity in the raccoon intestine, where they produce millions of eggs that are passed in the feces. Eggs that are excreted by raccoons are not immediately infectious. These eggs must develop in the environment for 2 to 4 weeks, after which the eggs are able to cause infection. The eggs are resistant to most environmental conditions and with adequate moisture, can survive for years. + + + + +Humans become infected by ingesting embryonated (fertile) eggs. Anyone who is exposed to environments where raccoons frequent is potentially at risk. Young children or developmentally disabled persons are at highest risk for infection as they may be more likely to put contaminated fingers, soil, or objects into their mouths. + +Hunters, trappers, taxidermists, and wildlife handlers may also be at increased risk if they have contact with raccoons or raccoon habitats. + +Fewer than 25 cases of Baylisascaris disease have been documented in the United States. However, it is possible that some cases are incorrectly diagnosed as other infections or go undiagnosed. Cases that are diagnosed tend to be severe. + +Cases have been reported in California, Illinois, Louisiana, Massachusetts, Michigan, Minnesota, Missouri, New York, Oregon, and Pennsylvania. As of 2012, there were 16 published human neurological cases in the US; six of the infected persons died.",CDC,Parasites - Baylisascaris infection +How to diagnose Parasites - Baylisascaris infection ?,"If you suspect you have been infected, consult your health care provider immediately. Be sure to tell your health care provider if you have recently been exposed to raccoons or their feces. + +Diagnosis is difficult because symptoms depend on the number of infecting larvae and location in the body. Ocular larva migrans, when the larvae migrate to the eye, can cause sensitivity to light, inflammation of the eye, and blindness. Symptoms of visceral larva migrans, when the larvae travel to organs, depend on which organs are affected. For example, an invasion of the liver may cause hepatomegaly (inflammation and enlargement of the liver), while an invasion of the lung may cause pulmonary symptoms such as cough or chest pain. Larvae rarely end up in the nervous system but the most severe cases are neural larva migrans, when the larvae migrate into the brain and cause it to swell (encephalitis). There is no commercially available test for Baylisascaris infection. A health care provider may test blood, cerebrospinal fluid (CSF), and tissue to determine if an individual is infected. Eye examinations may reveal a migrating larva or lesions and are often the most significant clue to infection with Baylisascaris. + +Diagnosis often is made by ruling out other infections that cause similar symptoms. Information on diagnosis and testing can be obtained through your local or state health department or CDC. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Baylisascaris infection +What are the treatments for Parasites - Baylisascaris infection ?,"No drugs have been shown to be totally effective for the treatment of Baylisascaris infection. Albendazole, a broad spectrum anthelmintic, has been recommended for specific cases. + +Early treatment might reduce serious damage caused by the infection. Should you suspect you may have ingested raccoon feces, seek immediate medical attention. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Baylisascaris infection +How to prevent Parasites - Baylisascaris infection ?,"Baylisascaris infection can be prevented by avoiding contact with raccoons and their feces. Washing your hands after working or playing outdoors is good practice for preventing a number of diseases. + +Do not keep, feed, or adopt wild animals, including raccoons, as pets. Infection rarely causes symptoms in raccoons, so you cannot tell if a raccoon is infected by observing its behavior. Roundworm eggs passed in the feces of infected raccoons are not visible to the naked eye. Eggs can only be seen using a microscope. + + + + +You may discourage raccoons from living in and around your home or parks by taking these steps: + + - prevent access to food + - keep trash containers tightly closed + - close off access to attics and basements + - keep sandboxes covered when not in use (raccoons may use sandboxes as a latrine) + - remove fish ponds -- they eat the fish and drink the water + - eliminate water sources + - remove bird feeders + - clear brush so raccoons are not likely to make a den on your property + + +Stay away from areas and materials that might be contaminated by raccoon feces. Raccoons typically defecate at the base of or in raised forks of trees, or on raised horizontal surfaces such as fallen logs, stumps, or large rocks. Raccoon feces also can be found on woodpiles, decks, rooftops, and in attics, garages, and haylofts. Feces usually are dark and tubular, have a pungent odor (usually worse than dog or cat feces), and often contain undigested seeds or other food items. + +If you have found a raccoon latrine near your home, cleaning the area may prevent possible infection. Newly deposited eggs take at least 2-4 weeks to become infective. Prompt removal and destruction of raccoon feces will reduce risk for exposure and possible infection. + +More on: Raccoon Latrine Clean-up [PDF, 111 KB, 1 page] + + + + +If you choose to clean the site yourself, care should be taken to avoid contaminating hands and clothes. + + - Wear disposable gloves to help prevent cross contamination. + - Wear a N95-rated respirator if working in a confined space to prevent accidental ingestion of eggs or other harmful materials. + - Avoid stirring up dust and debris- you can lightly mist the latrine area with a little water from a spray bottle to reduce the amount of dust. + - Wear rubber boots that can be scrubbed or cover your shoes with disposable booties that can be thrown away, so that you do not bring eggs into your household. + - Feces and material contaminated with raccoon feces should be removed and burned, buried, or sent to a landfill. + - Most chemicals do not kill roundworm eggs; however, heat kills the eggs instantly. + - Treat feces-soiled decks, patios, and other surfaces with boiling water or a propane torch (please contact your local fire department for regulations and safety practices). + + +To help further reduce the risk of possible infection, wash your hands well with soap and warm running water. Clean/launder your clothes thoroughly with hot water and detergent. + +More on: Handwashing + +If you are cleaning an indoor raccoon latrine and are not able to use a propane torch, use a damp (but not wet) sponge to wipe the area with hot soapy water. Rinse your sponge frequently. After you are finished, flush dirty water down the toilet. Place the sponge in a plastic bag and put the plastic bag in the garbage. + +Contact your local animal control office for additional assistance. + Dogs + +Dogs may be infected with adult B. procyonis roundworms, but may not show symptoms. Have all pets de-wormed under a veterinarian's supervision and take precautions to avoid contact with their feces. + Exotic pets + +Raccoons and dogs are not the only hosts of Baylisascaris. B. procyonis infection has also been documented in kinkajous. Other animals such as coatis may be susceptible. When wild animals are kept as pets, there can be a risk of disease transmission to humans.",CDC,Parasites - Baylisascaris infection +What is (are) Yellow Fever Vaccination ?,"If you continue to live or travel in yellow fever-endemic areas, you should receive a booster dose of yellow fever vaccine after 10 years. + +After receiving the vaccine, you should receive an International Certificate of Vaccination (yellow card) that has been validated by the vaccination center. This Certificate becomes valid 10 days after vaccination and lasts for 10 years. You will need this card as proof of vaccination to enter certain countries.",CDC,Yellow Fever Vaccination +What is (are) Chronic Fatigue Syndrome (CFS) ?,"Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill. + +Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years. + +Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. Moreover, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.",CDC,Chronic Fatigue Syndrome (CFS) +What causes Chronic Fatigue Syndrome (CFS) ?,"Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, stress, trauma, and toxins. + Infection + +Various types of infections have been studied to determine if they might cause or trigger CFS: + + - Candida albicans, a fungus that causes yeast infections + - Mycoplasma, a cause of atypical pneumonia + - Ross River virus, which causes Ross River Fever, a mosquito-borne tropical disease + + Could One Type of Infection Lead to CFS? + +Researchers from around the world have studied if a single type of infection might be the cause of CFS, analyzed the data, and not yet found any association between CFS and infection. Researchers are still analyzing samples from CFS patients using the latest molecular methods to search for previously unknown infections (pathogen discovery). To date, these studies suggest that no one infection or pathogen causes CFS and that the illness may be triggered by a variety of illnesses or conditions. In fact, infection with Epstein-Barr virus, Ross River virus, and Coxiella burnetti will lead to a post-infective condition that meets the criteria for CFS in approximately 10-12% of cases. People who had severe symptoms when they became infected were more likely than those with mild symptoms to later develop CFS symptoms. The possibility remains that there may be a variety of different ways in which patients can develop CFS. + Immune System and Allergies + +Studies have looked to see if changes in a person's immune system might lead to CFS. The findings have been mixed. Similarities in symptoms from immune responses to infection and CFS lead to hypotheses that CFS may be caused by stress or a viral infection, which may lead to the chronic production of cytokines and then to CFS. + +Antibodies against normal parts of the body (auto-antibodies) and immune complexes have been seen in some CFS patients. However, no associated tissue damage typical of autoimmune disease has been described in CFS patients. The opportunistic infections or increased risk for cancer observed in persons with immunodeficiency diseases or in immunosuppressed individuals is also not observed in CFS. + +T-cell activation markers have been reported to be different between groups of CFS patients and healthy persons, but not all investigators have consistently observed these differences. + +Allergic diseases and secondary illnesses such as sinusitis could be one predisposing factor for CFS, but not all CFS patients have allergies. Many patients do, however, report intolerances for certain substances that may be found in foods or over-the-counter medications, such as alcohol. + + + Hypothalamic-Pituitary Adrenal (HPA) Axis + +The central nervous system plays an important role in CFS. Physical or emotional stress, which is commonly reported as a pre-onset condition in CFS patients, alters the activity of the hypothalamic-pituitary-adrenal axis, or HPA axis, leading to altered release of corticotrophin-releasing hormone (CRH), cortisol, and other hormones. These hormones can influence the immune system and many other body systems. + +Some CFS patients produce lower levels of cortisol than do healthy people. Similar hormonal abnormalities have also been observed among CFS patients and in persons with related disorders like fibromyalgia. Cortisol suppresses inflammation and cellular immune activation, and reduced levels might relax constraints on inflammatory processes and immune cell activation. Even though CFS patients had lower levels of cortisol than healthy individuals, their cortisol levels were still within the acceptable range of what is considered normal. Therefore, doctors cannot use cortisol levels as a way to diagnose CFS. + + + Abnormally Low Blood Pressure and Lightheadedness (Neurally Mediated Hypotension) + +Disturbances in the autonomic regulation of blood pressure and pulse have been found in CFS patients. This problem with maintaining blood pressure can be diagnosed by using tilt table testing, which involves laying the patient horizontally on a table and then tilting the table upright to 70 degrees for 45 minutes while monitoring blood pressure and heart rate. Persons with neurally mediated hypotension (NMH) or postural orthostatic tachycardia (POTS) will develop lower blood pressure under these conditions, as well as other characteristic symptoms, such as lightheadedness, visual dimming, or a slow response to verbal stimuli. Others may develop an unusually rapid heart rate also associated with the symptoms of the syndrome. Many CFS patients experience lightheadedness or worsened fatigue when they stand for prolonged periods or when in warm places, such as in a hot shower -- all circumstances that are known to trigger NMH or POTS. + +NMH and/or POTS share some of the symptoms of CFS. They should be considered in a CFS patients whose symptoms are worsened with changes in position, after eating, following unusual amounts of or inadequate fluid intake, or increases in activity. Not all patients with CFS will have these conditions, however. + + + Nutritional Deficiency + +There is no published scientific evidence that CFS is caused by a nutritional deficiency. While evidence is currently lacking for nutritional defects in CFS patients, it should also be added that a balanced diet can be favorable to better health in general and would be expected to benefit a person with any chronic illness.",CDC,Chronic Fatigue Syndrome (CFS) +How to diagnose Chronic Fatigue Syndrome (CFS) ?,"Diagnostic Challenges + +For doctors, diagnosing chronic fatigue syndrome (CFS) can be complicated by a number of factors: + + - There's no lab test or biomarker for CFS. + - Fatigue and other symptoms of CFS are common to many illnesses. + - For some CFS patients, it may not be obvious to doctors that they are ill. + - The illness has a pattern of remission and relapse. + - Symptoms vary from person to person in type, number, and severity. + + +These factors have contributed to a low diagnosis rate. Of the one to four million Americans who have CFS, less than 20% have been diagnosed. + Exams and Screening Tests for CFS + +Because there is no blood test, brain scan, or other lab test to diagnose CFS, the doctor should first rule out other possible causes. + +If a patient has had 6 or more consecutive months of severe fatigue that is reported to be unrelieved by sufficient bed rest and that is accompanied by nonspecific symptoms, including flu-like symptoms, generalized pain, and memory problems, the doctor should consider the possibility that the patient may have CFS. Further exams and tests are needed before a diagnosis can be made: + + - A detailed medical history will be needed and should include a review of medications that could be causing the fatigue and symptoms + - A thorough physical and mental status examination will also be needed + - A battery of laboratory screening tests will be needed to help identify or rule out other possible causes of the symptoms that could be treated + - The doctor may also order additional tests to follow up on results of the initial screening tests + + +A CFS diagnosis requires that the patient has been fatigued for 6 months or more and has 4 of the 8 symptoms for CFS for 6 months or more. If, however, the patient has been fatigued for 6 months or more but does not have four of the eight symptoms, the diagnosis may be idiopathic fatigue. + +The complete process for diagnosing CFS can be found here. + +Additional information for healthcare professionals on use of tests can be found here.",CDC,Chronic Fatigue Syndrome (CFS) +What are the symptoms of Chronic Fatigue Syndrome (CFS) ?,"Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms are similar to so many other illnesses. Fatigue, for instance, can be a symptom for hundreds of illnesses. Looking closer at the nature of the symptoms though, can help a doctor distinguish CFS from other illnesses. + Primary Symptoms + +As the name chronic fatigue syndrome suggests, fatigue is one part of this illness. With CFS, however, the fatigue is accompanied by other symptoms. In addition, the fatigue is not the kind you might feel after a particularly busy day or week, after a sleepless night, or after a single stressful event. It's a severe, incapacitating fatigue that isn't improved by bed rest and that is often worsened by physical activity or mental exertion. It's an all-encompassing fatigue that can dramatically reduce a person's activity level and stamina. + +People with CFS function at a significantly lower level of activity than they were capable of before they became ill. The illness results in a substantial reduction in work-related, personal, social, and educational activities. + +The fatigue of CFS is accompanied by characteristic illness symptoms lasting at least 6 months. These symptoms include: + + - increased malaise (extreme exhaustion and sickness) following physical activity or mental exertion + - problems with sleep + - difficulties with memory and concentration + - persistent muscle pain + - joint pain (without redness or swelling) + - headache + - tender lymph nodes in the neck or armpit + - sore throat + + Other Symptoms + +The symptoms listed above are the symptoms used to diagnose CFS. However, many CFS patients and patients in general may experience other symptoms, including: + + - brain fog (feeling like you're in a mental fog) + - difficulty maintaining an upright position, dizziness, balance problems or fainting + - allergies or sensitivities to foods, odors, chemicals, medications, or noise + - irritable bowel + - chills and night sweats + - visual disturbances (sensitivity to light, blurring, eye pain) + - depression or mood problems (irritability, mood swings, anxiety, panic attacks) + + +It's important to tell your health care professional if you're experiencing any of these symptoms. You might have CFS, or you might have another treatable disorder. Only a health care professional can diagnose CFS. + What's the Clinical Course of CFS? + +The severity of CFS varies from patient to patient. Some people can maintain fairly active lives. For most patients, however, CFS significantly limits their work, school, and family activities for periods of time. + +While symptoms vary from person to person in number, type, and severity, all CFS patients are limited in what they can do to some degree. CDC studies show that CFS can be as disabling as multiple sclerosis, lupus, rheumatoid arthritis, heart disease, end-stage renal disease, chronic obstructive pulmonary disease (COPD), and similar chronic conditions. + +CFS often affects patients in cycles: Patients will have periods of illness followed by periods of relative well-being. For some patients, symptoms may diminish or even go into complete remission; however, they often recur at a later point in time. This pattern of remission and relapse makes CFS especially hard for patients to manage. Patients who are in remission may be tempted to overdo activities when they're feeling better, but this overexertion may actually contribute to a relapse. + +The percentage of CFS patients who recover is unknown, but there is some evidence to indicate that patients benefit when accompanying conditions are identified and treated and when symptoms are managed. High-quality health care is important.",CDC,Chronic Fatigue Syndrome (CFS) +What are the treatments for Chronic Fatigue Syndrome (CFS) ?,"Introduction + +Managing chronic fatigue syndrome can be as complex as the illness itself. There is no cure, no prescription drugs have been developed specifically for CFS, and symptoms can vary a lot over time. Thus, people with CFS should closely monitor their health and let their doctor know of any changes; and doctors should regularly monitor their patients' conditions and change treatment strategies as needed. + +A team approach that involves doctors and patients is one key to successfully managing CFS. Patients and their doctors can work together to create an individualized treatment program that best meets the needs of the patient with CFS. This program should be based on a combination of therapies that address symptoms, coping techniques, and managing normal daily activities. + +CFS affects patients in different ways, and the treatment plan should be tailored to address symptoms that are most disruptive or disabling for each patient. Helping the patient get relief from symptoms is the main goal of treatment. However, expecting a patient to return to usual activities should not be the immediate goal because the physical and mental exertion needed to try to reach that goal may aggravate the illness. + +Because CFS is a complicated illness, its management may require input from a variety of medical professionals. Primary care providers can develop effective treatment plans based on their experience in treating other illnesses. Patients benefit when they can work in collaboration with a team of doctors and other health care professionals, who might also include rehabilitation specialists, mental health professionals, and physical or exercise therapists. + Difficulties of Living with CFS + +Living with chronic fatigue syndrome can be difficult. Like other debilitating chronic illnesses, CFS can have a devastating impact on patients' daily lives and require them to make major lifestyle changes to adapt to many new limitations. + +Common difficulties for CFS patients include problems coping with: + + - the changing and unpredictable symptoms + - a decrease in stamina that interferes with activities of daily life + - memory and concentration problems that seriously hurt work or school performance + - loss of independence, livelihood, and economic security + - alterations in relationships with partners, family members, and friends + - worries about raising children + + +Feelings of anger, guilt, anxiety, isolation and abandonment are common in CFS patients. While it's OK to have such feelings, unresolved emotions and stress can make symptoms worse, interfere with prescription drug therapies, and make recovery harder.",CDC,Chronic Fatigue Syndrome (CFS) +How to prevent Eastern Equine Encephalitis ?,"There is no vaccine against Eastern equine encephalitis virus (EEEV) for humans. Reducing exposure to mosquitoes is the best defense against infection with EEEV and other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. + + - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin and/or clothing. The repellent/insecticide permethrin can be used on clothing to protect through several washes. Always follow the directions on the package. + - Wear protective clothing: Wear long sleeves and pants when weather permits. + - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out. + - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use. +",CDC,Eastern Equine Encephalitis +What are the symptoms of Typhoid Fever ?,"Persons with typhoid fever usually have a sustained fever as high as 103° to 104° F (39° to 40° C). They may also feel weak, or have stomach pains, headache, or loss of appetite. In some cases, patients have a rash of flat, rose-colored spots. The only way to know for sure if an illness is typhoid fever is to have samples of stool or blood tested for the presence of Salmonella Typhi. + +Typhoid fever’s danger doesn’t end when symptoms disappear: + +Even if your symptoms seem to go away, you may still be carrying Salmonella Typhi. If so, the illness could return, or you could pass the disease to other people. In fact, if you work at a job where you handle food or care for small children, you may be barred legally from going back to work until a doctor has determined that you no longer carry any typhoid bacteria. + +If you are being treated for typhoid fever, it is important to do the following: + +Keep taking the prescribed antibiotics for as long as the doctor has asked you to take them. + +Wash your hands carefully with soap and water after using the bathroom, and do not prepare or serve food for other people. This will lower the chance that you will pass the infection on to someone else. + +Have your doctor perform a series of stool cultures to ensure that no Salmonella Typhi bacteria remain in your body.",CDC,Typhoid Fever +Who is at risk for Kyasanur Forest Disease (KFD)? ?,"Transmission to humans may occur after a tick bite or contact with an infected animal, most importantly a sick or recently dead monkey. No person-to-person transmission has been described. + +Large animals such as goats, cows, and sheep may become infected with KFD but play a limited role in the transmission of the disease. These animals provide the blood meals for ticks and it is possible for infected animals with viremia to infect other ticks, but transmission of KFDV to humans from these larger animals is extremely rare. Furthermore, there is no evidence of disease transmission via the unpasteurized milk of any of these animals.",CDC,Kyasanur Forest Disease (KFD) +What are the symptoms of Kyasanur Forest Disease (KFD) ?,"After an incubation period of 3-8 days, the symptoms of KFD begin suddenly with chills, fever, and headache. Severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems may occur 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure, and low platelet, red blood cell, and white blood cell counts. + +After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients (10-20%) who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and signs of neurological manifestations, such as severe headache, mental disturbances, tremors, and vision deficits. + +The estimated case-fatality rate is from 3 to 5% for KFD.",CDC,Kyasanur Forest Disease (KFD) +Who is at risk for Kyasanur Forest Disease (KFD)? ?,"KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. Additionally, a virus very similar to KFD virus (Alkhurma hemorrhagic fever virus) has been described in Saudi Arabia. + +People with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, herders, forest workers, farmers) within Karnataka State are potentially at risk for infection by contact with infected ticks. Seasonality is another important risk factor as more cases are reported during the dry season, from November through June.",CDC,Kyasanur Forest Disease (KFD) +How to diagnose Kyasanur Forest Disease (KFD) ?,"Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.",CDC,Kyasanur Forest Disease (KFD) +What are the treatments for Kyasanur Forest Disease (KFD) ?,"There is no specific treatment for KFD, but early hospitalization and supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders.",CDC,Kyasanur Forest Disease (KFD) +How to prevent Kyasanur Forest Disease (KFD) ?,A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.,CDC,Kyasanur Forest Disease (KFD) +What is (are) Parasites - Echinococcosis ?,"Frequently Asked Questions (FAQs) + +Cystic echinococcosis (CE) disease results from being infected with the larval stage of Echinococcus granulosus, a tiny tapeworm (~2-7 millimeters in length) found in dogs (definitive host), sheep, cattle, goats, foxes, and pigs, amongst others (intermediate hosts). Most infections in humans are asymptomatic, but CE, also known as hydatid disease, causes slowly enlarging masses, most commonly in the liver and the lungs. Treatment can involve both medication and surgery. + +More on: Cystic Echinococcosis (CE) FAQs + +Alveolar echinococcosis (AE) disease results from being infected with the larval stage of Echinococcus multilocularis, a tiny tapeworm (~1-4 millimeters in length) found in foxes, coyotes, dogs, and cats (definitive hosts). Although human cases are rare, infection in humans causes parasitic tumors to form in the liver, and, less commonly, the lungs, brain, and other organs. If left untreated, infection with AE can be fatal. + +More on: Alveolar Echinococcosis (AE) FAQs",CDC,Parasites - Echinococcosis +Who is at risk for Parasites - Echinococcosis? ?,"Cystic echinococcosis (CE) is caused by infection with the larval stage of Echinococcus granulosus. CE is found in Africa, Europe, Asia, the Middle East, Central and South America, and in rare cases, North America. The parasite is transmitted to dogs when they ingest the organs of other animals that contain hydatid cysts. The cysts develop into adult tapeworms in the dog. Infected dogs shed tapeworm eggs in their feces which contaminate the ground. Sheep, cattle, goats, and pigs ingest tapeworm eggs in the contaminated ground; once ingested, the eggs hatch and develop into cysts in the internal organs. The most common mode of transmission to humans is by the accidental consumption of soil, water, or food that has been contaminated by the fecal matter of an infected dog. Echinococcus eggs that have been deposited in soil can stay viable for up to a year. The disease is most commonly found in people involved in raising sheep, as a result of the sheep's role as an intermediate host of the parasite and the presence of working dogs that are allowed to eat the offal of infected sheep. + +Alveolar echinococcosis (AE) is caused by infection with the larval stage of Echinococcus multilocularis. AE is found across the globe and is especially prevalent in the northern latitudes of Europe, Asia, and North America. The adult tapeworm is normally found in foxes, coyotes, and dogs. Infection with the larval stages is transmitted to people through ingestion of food or water contaminated with tapeworm eggs.",CDC,Parasites - Echinococcosis +How to diagnose Parasites - Echinococcosis ?,"The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis. + +Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection.",CDC,Parasites - Echinococcosis +What are the treatments for Parasites - Echinococcosis ?,"In the past, surgery was the only treatment for cystic echinococcal cysts. Chemotherapy, cyst puncture, and PAIR (percutaneous aspiration, injection of chemicals and reaspiration) have been used to replace surgery as effective treatments for cystic echinococcosis. However, surgery remains the most effective treatment to remove the cyst and can lead to a complete cure. Some cysts are not causing any symptoms and are inactive; those cysts often go away without any treatment. + +The treatment of alveolar echinococcosis is more difficult than cystic echinococcosis and usually requires radical surgery, long-term chemotherapy, or both. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Echinococcosis +How to prevent Parasites - Echinococcosis ?,"Cystic echinococcosis is controlled by preventing transmission of the parasite. Prevention measures include limiting the areas where dogs are allowed and preventing animals from consuming meat infected with cysts. + + - Prevent dogs from feeding on the carcasses of infected sheep. + - Control stray dog populations. + - Restrict home slaughter of sheep and other livestock. + - Do not consume any food or water that may have been contaminated by fecal matter from dogs. + - Wash your hands with soap and warm water after handling dogs, and before handling food. + - Teach children the importance of washing hands to prevent infection. + + +Alveolar echinococcosis can be prevented by avoiding contact with wild animals such as foxes, coyotes, and dogs and their fecal matter and by limiting the interactions between dogs and rodent populations. + + - Do not allow dogs to feed on rodents and other wild animals. + - Avoid contact with wild animals such as foxes, coyotes and stray dogs. + - Do not encourage wild animals to come close to your home or keep them as pets. + - Wash your hands with soap and warm water after handling dogs or cats, and before handling food. + - Teach children the importance of washing hands to prevent infection. + + +More on: Handwashing",CDC,Parasites - Echinococcosis +What is (are) Parasites - Loiasis ?,Loiasis is an infection caused by the parasitic worm Loa loa.,CDC,Parasites - Loiasis +Who is at risk for Parasites - Loiasis? ?,"Loa loa parasites are found in West and Central Africa. Ten countries have areas where there are high rates of infection (i.e., where more than 40% of the people who live in that area report that they have had eye worm in the past). An estimated 14.4 million people live in these areas of high rates of infection. Another 15.2 live in areas where 20–40% of people report that they have had eye worm in the past. + +More on: Where Loa Loa is Prevelant [WHO Map] + +The people most at risk for loiasis are those who live in the certain rain forests in West and Central Africa. The deerflies that pass the parasite to humans usually bite during the day and are more common during the rainy season. They are attracted by the movement of people and by smoke from wood fires. Rubber plantations are areas where more deerflies may be found. The flies do not typically enter homes, but they might be attracted to homes that are well lit. + +Travelers are more likely to become infected if they are in areas where they are bitten by deerflies for many months, though occasionally they get infected even if they are in an affected area for less than 30 days. + +Your risk of infection depends on the number of bites received, the number of infected deerflies in the area you visit, and the length of your stay in the area.",CDC,Parasites - Loiasis +How to diagnose Parasites - Loiasis ?,"In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways: + + - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye + - Identification of an adult worm in the eye by a health care provider + - Identification of the microfilariae on a blood smear made from blood taken from the patient between 10AM and 2PM + - Identification of antibodies against L. loa on specialized blood test + + +Diagnosis of loiasis can be difficult, especially in light infections where there are very few microfilariae in the blood. The specialized blood test is not widely available in the United States. A positive antibody blood test in someone with no symptoms means only that the person was infected sometime in his/her life. It does not mean that the person still has living parasites in his/her body.",CDC,Parasites - Loiasis +What are the treatments for Parasites - Loiasis ?,"Decisions about treatment of loiasis can be difficult and often require advice from an expert in infectious diseases or tropical medicine. Although surgical removal of adult worms moving under the skin or across the eye can be done to relieve anxiety, loiasis is not cured by surgery alone. There are two medications that can be used to treat the infection and manage the symptoms. The treatment of choice is diethylcarbamazine (DEC), which kills the microfilariae and adult worms. Albendazole is sometimes used in patients who are not cured with multiple DEC treatments. It is thought to kill adult worms. Certain people with heavy infections are at risk of brain inflammation when treated with DEC. This can cause coma or sometimes death. People with heavy infections need to be treated by experienced specialists. Sometimes, other medical conditions need to be addressed first in order to make it safer to use DEC. Sometimes treatment is not recommended. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Loiasis +How to prevent Parasites - Loiasis ?,"There are no programs to control or eliminate loiasis in affected areas. Your risk of infection may be less in areas where communities receive regular treatment for onchocerciasis or lymphatic filariasis. + +There are no vaccines that protect you from loiasis. If you are going to be in an area with loiasis for a long period of time, diethylcarbamazine (DEC)—300mg taken once a week—can reduce your risk of infection. Avoiding areas where the deerflies are found, such as muddy, shaded areas along rivers or around wood fires, may also reduce your risk of infection. You may reduce your risk of bites by using insect repellants that contain DEET (N,N-Diethyl-meta-toluamide) and wearing long sleeves and long pants during the day, which is when deerflies bite. Treating your clothes with permethrin may also help. For a description of CDC's information for preventing insect bites, see CDC's Yellow Book. + +More on: Insect Bite Prevention",CDC,Parasites - Loiasis +What is (are) Parasites - Paragonimiasis (also known as Paragonimus Infection) ?,Frequently Asked Queestions (FAQs),CDC,Parasites - Paragonimiasis (also known as Paragonimus Infection) +Who is at risk for Parasites - Paragonimiasis (also known as Paragonimus Infection)? ?,"Several species of Paragonimus cause most infections; the most important is P. westermani, which occurs primarily in Asia including China, the Philippines, Japan, Vietnam, South Korea, Taiwan, and Thailand. P. africanus causes infection in Africa, and P. mexicanus in Central and South America. Specialty dishes in which shellfish are consumed raw or prepared only in vinegar, brine, or wine without cooking play a key role in the transmission of paragonimiasis. Raw crabs or crayfish are also used in traditional medicine practices in Korea, Japan, and some parts of Africa. + +Although rare, human paragonimiasis from P. kellicotti has been acquired in the United States, with multiple cases from the Midwest. Several cases have been associated with ingestion of uncooked crawfish during river raft float trips in Missouri.",CDC,Parasites - Paragonimiasis (also known as Paragonimus Infection) +How to diagnose Parasites - Paragonimiasis (also known as Paragonimus Infection) ?,"The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen. + +Specific and sensitive antibody tests based on P. westermani antigens are available through CDC, and serologic tests using a variety of techniques are available through commercial laboratories. + +More on: Resources for Health Professionals: Diagnosis + +More on: DPDx: Paragonimus",CDC,Parasites - Paragonimiasis (also known as Paragonimus Infection) +What are the treatments for Parasites - Paragonimiasis (also known as Paragonimus Infection) ?,"Paragonimus infections are treatable by your health care provider. Prescription medications are available. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Paragonimiasis (also known as Paragonimus Infection) +How to prevent Parasites - Paragonimiasis (also known as Paragonimus Infection) ?,"Never eat raw freshwater crabs or crayfish. Cook crabs and crayfish for to at least 145°F (~63°C). Travelers should be advised to avoid traditional meals containing undercooked freshwater crustaceans. + +More on: Fight BAC: Safe Food Handling",CDC,Parasites - Paragonimiasis (also known as Paragonimus Infection) +Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ?,"It is unknown how Marburg virus first transmits from its animal host to humans; however, for the 2 cases in tourists visiting Uganda in 2008, unprotected contact with infected bat feces or aerosols are the most likely routes of infection. + +After this initial crossover of virus from host animal to humans, transmission occurs through person-to-person contact. This may happen in several ways: direct contact to droplets of body fluids from infected persons, or contact with equipment and other objects contaminated with infectious blood or tissues. + +In previous outbreaks, persons who have handled infected non-human primates or have come in direct contact with their fluids or cell cultures have become infected. Spread of the virus between humans has occurred in close environments and direct contacts. A common example is through caregivers in the home or in a hospital (nosocomial transmission).",CDC,Marburg hemorrhagic fever (Marburg HF) +What are the symptoms of Marburg hemorrhagic fever (Marburg HF) ?,"After an incubation period of 5-10 days, symptom onset is sudden and marked by fever, chills, headache, and myalgia. Around the fifth day after the onset of symptoms, a maculopapular rash, most prominent on the trunk (chest, back, stomach), may occur. Nausea, vomiting, chest pain, a sore throat, abdominal pain, and diarrhea may then appear. Symptoms become increasingly severe and can include jaundice, inflammation of the pancreas, severe weight loss, delirium, shock, liver failure, massive hemorrhaging, and multi-organ dysfunction. + +Because many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other infectious diseases such as malaria or typhoid fever, clinical diagnosis of the disease can be difficult, especially if only a single case is involved. + +The case-fatality rate for Marburg hemorrhagic fever is between 23-90%. For a complete listing of the case fatality rates for previous outbreaks, please see the History of Outbreaks table",CDC,Marburg hemorrhagic fever (Marburg HF) +Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ?,"People who have close contact with African fruit bats, humans patients, or non-human primates infected with Marburg virus are at risk. + +Historically, the people at highest risk include family members and hospital staff who care for patients infected with Marburg virus and have not used proper barrier nursing techniques. Particular occupations, such as veterinarians and laboratory or quarantine facility workers who handle non-human primates from Africa, may also be at increased risk of exposure to Marburg virus. + +Exposure risk can be higher for travelers visiting endemic regions in Africa, including Uganda and other parts of central Africa, and have contact with fruit bats, or enter caves or mines inhabited by fruit bats.",CDC,Marburg hemorrhagic fever (Marburg HF) +How to diagnose Marburg hemorrhagic fever (Marburg HF) ?,"Many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other more frequent infectious diseases, such as malaria or typhoid fever, making diagnosis of the disease difficult. This is especially true if only a single case is involved. + +However, if a person has the early symptoms of Marburg HF and there is reason to believe that Marburg HF should be considered, the patient should be isolated and public health professionals notified. Samples from the patient can then be collected and tested to confirm infection. + +Antigen-capture enzyme-linked immunosorbent assay (ELISA) testing, polymerase chain reaction (PCR), and IgM-capture ELISA can be used to confirm a case of Marburg HF within a few days of symptom onset. Virus isolation may also be performed but should only be done in a high containment laboratory with good laboratory practices. The IgG-capture ELISA is appropriate for testing persons later in the course of disease or after recovery. In deceased patients, immunohistochemistry, virus isolation, or PCR of blood or tissue specimens may be used to diagnose Marburg HF retrospectively.",CDC,Marburg hemorrhagic fever (Marburg HF) +What are the treatments for Marburg hemorrhagic fever (Marburg HF) ?,"There is no specific treatment for Marburg hemorrhagic fever. Supportive hospital therapy should be utilized, which includes balancing the patient's fluids and electrolytes, maintaining oxygen status and blood pressure, replacing lost blood and clotting factors, and treatment for any complicating infections. + +Experimental treatments are validated in non-human primates models, but have never been tried in humans.",CDC,Marburg hemorrhagic fever (Marburg HF) +How to prevent Marburg hemorrhagic fever (Marburg HF) ?,"Preventive measures against Marburg virus infection are not well defined, as transmission from wildlife to humans remains an area of ongoing research. However, avoiding fruit bats, and sick non-human primates in central Africa, is one way to protect against infection. + +Measures for prevention of secondary, or person-to-person, transmission are similar to those used for other hemorrhagic fevers. If a patient is either suspected or confirmed to have Marburg hemorrhagic fever, barrier nursing techniques should be used to prevent direct physical contact with the patient. These precautions include wearing of protective gowns, gloves, and masks; placing the infected individual in strict isolation; and sterilization or proper disposal of needles, equipment, and patient excretions. + +In conjunction with the World Health Organization, CDC has developed practical, hospital-based guidelines, titled: Infection Control for Viral Haemorrhagic Fevers In the African Health Care Setting. The manual can help health-care facilities recognize cases and prevent further hospital-based disease transmission using locally available materials and few financial resources. + +Marburg hemorrhagic fever is a very rare human disease. However, when it occurs, it has the potential to spread to other people, especially health care staff and family members who care for the patient. Therefore, increasing awareness in communities and among health-care providers of the clinical symptoms of patients with Marburg hemorrhagic fever is critical. Better awareness can lead to earlier and stronger precautions against the spread of Marburg virus in both family members and health-care providers. Improving the use of diagnostic tools is another priority. With modern means of transportation that give access even to remote areas, it is possible to obtain rapid testing of samples in disease control centers equipped with Biosafety Level 4 laboratories in order to confirm or rule out Marburg virus infection.",CDC,Marburg hemorrhagic fever (Marburg HF) +What is (are) Parasites - Lymphatic Filariasis ?,"Frequently Asked Questions (FAQs) + + Vector Information",CDC,Parasites - Lymphatic Filariasis +Who is at risk for Parasites - Lymphatic Filariasis? ?,"There are three different filarial species that can cause lymphatic filariasis in humans. Most of the infections worldwide are caused by Wuchereria bancrofti. In Asia, the disease can also be caused by Brugia malayi and Brugia timori. + +The infection spreads from person to person by mosquito bites. The adult worm lives in the human lymph vessels, mates, and produces millions of microscopic worms, also known as microfilariae. Microfilariae circulate in the person's blood and infect the mosquito when it bites a person who is infected. Microfilariae grow and develop in the mosquito. When the mosquito bites another person, the larval worms pass from the mosquito into the human skin, and travel to the lymph vessels. They grow into adult worms, a process that takes 6 months or more. An adult worm lives for about 5–7 years. The adult worms mate and release millions of microfilariae into the blood. People with microfilariae in their blood can serve as a source of infection to others. + + + + +A wide range of mosquitoes can transmit the parasite, depending on the geographic area. In Africa, the most common vector is Anopheles and in the Americas, it is Culex quinquefasciatus. Aedes and Mansonia can transmit the infection in the Pacific and in Asia. + +Many mosquito bites over several months to years are needed to get lymphatic filariasis. People living for a long time in tropical or sub-tropical areas where the disease is common are at the greatest risk for infection. Short-term tourists have a very low risk. + +Programs to eliminate lymphatic filariasis are under way in more than 50 countries. These programs are reducing transmission of the filarial parasites and decreasing the risk of infection for people living in or visiting these communities. + Geographic distribution + + + + +Lymphatic filariasis affects over 120 million people in 73 countries throughout the tropics and sub-tropics of Asia, Africa, the Western Pacific, and parts of the Caribbean and South America. + +In the Americas, only four countries are currently known to be endemic: Haiti, the Dominican Republic, Guyana and Brazil. + +In the United States, Charleston, South Carolina, was the last known place with lymphatic filariasis. The infection disappeared early in the 20th century. Currently, you cannot get infected in the U.S.",CDC,Parasites - Lymphatic Filariasis +How to diagnose Parasites - Lymphatic Filariasis ?,"The standard method for diagnosing active infection is the identification of microfilariae in a blood smear by microscopic examination. The microfilariae that cause lymphatic filariasis circulate in the blood at night (called nocturnal periodicity). Blood collection should be done at night to coincide with the appearance of the microfilariae, and a thick smear should be made and stained with Giemsa or hematoxylin and eosin. For increased sensitivity, concentration techniques can be used. + +Serologic techniques provide an alternative to microscopic detection of microfilariae for the diagnosis of lymphatic filariasis. Patients with active filarial infection typically have elevated levels of antifilarial IgG4 in the blood and these can be detected using routine assays. + +Because lymphedema may develop many years after infection, lab tests are most likely to be negative with these patients.",CDC,Parasites - Lymphatic Filariasis +What are the treatments for Parasites - Lymphatic Filariasis ?,"Patients currently infected with the parasite + +Diethylcarbamazine (DEC) is the drug of choice in the United States. The drug kills the microfilaria and some of the adult worms. DEC has been used world-wide for more than 50 years. Because this infection is rare in the U.S., the drug is no longer approved by the Food and Drug Administration (FDA) and cannot be sold in the U.S. Physicians can obtain the medication from CDC after confirmed positive lab results. CDC gives the physicians the choice between 1 or 12-day treatment of DEC (6 mg/kg/day). One day treatment is generally as effective as the 12-day regimen. DEC is generally well tolerated. Side effects are in general limited and depend on the number of microfilariae in the blood. The most common side effects are dizziness, nausea, fever, headache, or pain in muscles or joints. + +DEC should not be administered to patients who may also have onchocerciasis as DEC can worsen onchocercal eye disease. In patients with loiasis, DEC can cause serious adverse reactions, including encephalopathy and death. The risk and severity of the adverse reactions are related to Loa loa microfilarial density. +The drug ivermectin kills only the microfilariae, but not the adult worm; the adult worm is responsible for the pathology of lymphedema and hydrocele. + +Some studies have shown adult worm killing with treatment with doxycycline (200mg/day for 4–6 weeks). + Patients with clinical symptoms + +Lymphedema and elephantiasis are not indications for DEC treatment because most people with lymphedema are not actively infected with the filarial parasite. + +To prevent the lymphedema from getting worse, patients should ask their physician for a referral to a lymphedema therapist so they can be informed about some basic principles of care such as hygiene, exercise and treatment of wounds. + +Patients with hydrocele may have evidence of active infection, but typically do not improve clinically following treatment with DEC. The treatment for hydrocele is surgery. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Lymphatic Filariasis +How to prevent Parasites - Lymphatic Filariasis ?,"The best way to prevent lymphatic filariasis is to avoid mosquito bites. The mosquitoes that carry the microscopic worms usually bite between the hours of dusk and dawn. If you live in an area with lymphatic filariasis: + + - at night + + - sleep in an air-conditioned room or + - sleep under a mosquito net + + - between dusk and dawn + + - wear long sleeves and trousers and + - use mosquito repellent on exposed skin. + + + +Another approach to prevention includes giving entire communities medicine that kills the microscopic worms -- and controlling mosquitoes. Annual mass treatment reduces the level of microfilariae in the blood and thus, diminishes transmission of infection. This is the basis of the global campaign to eliminate lymphatic filariasis. + +Experts consider that lymphatic filariasis, a neglected tropical disease (NTD), can be eradicated and a global campaign to eliminate lymphatic filariasis as a public health problem is under way. The elimination strategy is based on annual treatment of whole communities with combinations of drugs that kill the microfilariae. As a result of the generous contributions of these drugs by the companies that make them, tens of millions of people are being treated each year. Since these drugs also reduce levels of infection with intestinal worms, benefits of treatment extend beyond lymphatic filariasis. Successful campaigns to eliminate lymphatic filariasis have taken place in China and other countries. + +More on: Insect Bite Prevention",CDC,Parasites - Lymphatic Filariasis +What are the symptoms of Q Fever ?,"Q fever can cause acute or chronic illness in humans, who usually acquire infection after contact with infected animals or exposure to contaminated environments. The acute symptoms caused by infection with Coxiella burnetii usually develop within 2-3 weeks of exposure, although as many as half of humans infected withC. burnetii do not show symptoms. + +The following is a list of symptoms commonly seen with acute Q fever. However, it is important to note that the combination of symptoms varies greatly from person to person. + + - high fevers (up to 104-105°F) + - severe headache + - general malaise + - myalgia + - chills and/or sweats + - non-productive cough + - nausea + - vomiting + - diarrhea + - abdominal pain + - chest pain + + +Although most persons with acute Q fever infection recover, others may experience serious illness with complications that may include pneumonia, granulomatous hepatitis (inflammation of the liver), myocarditis (inflammation of the heart tissue) and central nervous system complications. Pregnant women who are infected may be at risk for pre-term delivery or miscarriage. The estimated case fatality rate (i.e. the proportion of persons who die as a result of their infection) is low, at < 2% of hospitalized patients. Treatment with the correct antibiotic may shorten the course of illness for acute Q fever. + +Chronic Q fever is a severe disease occurring in <5% of acutely infected patients. It may present soon (within 6 weeks) after an acute infection, or may manifest years later. The three groups at highest risk for chronic Q fever are pregnant women, immunosuppressed persons and patients with a pre-existing heart valve defects. Endocarditis is the major form of chronic disease, comprising 60-70% of all reported cases. The estimated case fatality rate in untreated patients with endocarditis is 25-60%. Patients with endocarditis require early diagnosis and long-term antibiotic treatment (at least 18 months) for a successful outcome. Other forms of chronic Q fever include aortic aneurysms and infections of the bone, liver or reproductive organs, such as the testes in males. + +Coxiella burnetii has the ability to persist for long periods of time in the host after infection. Although the majority of people with acute Q fever recover completely, a post-Q fever fatigue syndrome has been reported to occur in 10-25% of some acute patients. This syndrome is characterized by constant or recurring fatigue, night sweats, severe headaches, photophobia (eye sensitivity to light), pain in muscles and joints, mood changes, and difficulty sleeping. + + + Physician Diagnosis + +There are several aspects of Q fever that make it challenging for healthcare providers to diagnose and treat. The symptoms vary from patient to patient and can be difficult to distinguish from other diseases. Treatment is more likely to be effective if started in the first three days of symptoms. Diagnostic tests based on the detection of antibodies will frequently appear negative in the first 7-10 days of illness. For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical diagnosis. Information such as recent travel to rural or agricultural communities where infected livestock may be present, or employment in high risk occupations such as veterinarians or farmers can be helpful in making the diagnosis. Chronic Q fever is a risk for anyone with a history of acute Q fever illness, particularly those persons with valvular disease, blood vessel abnormalities, immunosuppressed persons, and women who were pregnant when they became infected. + +The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a prolonged fever with low platelet count, normal leukocyte count, and elevated liver enzymes are suggestive of acute Q fever infection, but may not be present in all patients. After a suspect diagnosis is made based on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of Q fever. + +Suspect diagnosis of Q fever is made based on signs and symptoms and a high index of clinical suspicion. Diagnosis can later be confirmed using specialized confirmatory laboratory tests. Treatment should never be delayed pending the receipt of laboratory test results, or be withheld on the basis of an initial negative laboratory result. + + + + + Laboratory Confirmation + +During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has Q fever. This method is most sensitive in the first week of illness, and rapidly decreases in sensitivity following the administration of appropriate antibiotics. PCR or immunohistochemistry of biopsy specimens has also been used to diagnose Q fever. These tests may be appropriate for endocarditis patients undergoing valve replacement surgery or patients with hepatitis. Although a positive PCR result is helpful, a negative result does not rule out the diagnosis, and treatment should not be withheld due to a negative result. Culture isolation of C. burnetii is only available at specialized laboratories; routine hospital blood cultures cannot detect the organism. + +When a person develops Q fever, their immune system produces antibodies to C. burnetii, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that a negative test during the first week of illness does not rule out Q fever as a cause of illness. There are two distinct antigenic phases to which humans develop antibody responses. In acute infection, an antibody response to C. burnetii Phase II antigen is predominant and is higher than Phase I antibody response; the reverse is true in chronic infection which is associated with a rising Phase I IgG titer (according to current U.S. case definitions >1:800) that is often much higher than Phase II IgG. The gold standard serologic test for diagnosis of acute Q fever is the indirect immunofluorescence assay (IFA) using C. burnetii antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of Q fever, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians should request both Phase I and Phase II IgG and IgM serologic titers for diagnostic confirmation of acute and chronic Q fever. Antibodies to C. burnetii may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Approximately 3% of currently healthy people in the U.S. general population and up to 20% of people in high-risk professions (veterinarians, ranchers, etc.) have elevated antibody titers due to past exposure to C. burnetii. Therefore, if only one sample is tested it can be difficult to interpret the findings. + +Paired samples taken 2-3 weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of acute Q fever. Diagnosis of chronic Q fever is confirmed by elevated Phase I IgG antibody (according to current U.S. case definitions >1:800 and higher than Phase II IgG) and an identifiable persistent focus of infection (e.g. endocarditis). Elevated Phase I titers alone do not confirm a chronic Q fever diagnosis and would not warrant treatment in a clinically normal patient. Because chronic Q fever involves lengthy persistence of the organism in the body, the antibody levels are often quite high and you will not see a rising titer between paired serum specimens. + +For more in-depth information about the diagnosis of Q fever, please visit http://www.bt.cdc.gov/agent/qfever/clinicians/diagnosis.asp + + + Treatment + +Doxycycline is the first line treatment for all adults, and for children with severe illness. Treatment should be initiated immediately whenever Q fever is suspected. + +Use of antibiotics other than doxycycline or other tetracyclines is associated with a higher risk of severe illness. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return. + +If the patient is treated within the first 3 days of the disease, fever generally subsides within 72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to Q fever. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline has not been documented. + +There is no role for prophylactic antimicrobial agents in preventing Q fever after a known exposure and prior to symptom onset; attempts at prophylaxis will likely extend the incubation period by several days but will not prevent infection from occurring. + +Recommended Dosage for Acute Q fever + Doxycycline is the first line treatment for children with severe illness of all ages and adults: + + - Adults: 100 mg every 12 hours + - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day + + +Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 2-3 weeks. + +Recommended Dosage for Chronic Q fever + + - Adults: Doxycycline 100 mg every 12 hours and hydroxychloroquine 200 mg every 8 hours. + + +Standard duration of treatment is 18 months. + + + Treating children + +The use of doxycycline is recommended to treat Q fever in children of all ages who are hospitalized or are severely ill. Unlike older generations of tetracyclines, doxycycline has not been shown to cause staining of permanent teeth, and most experts consider the benefit of doxycycline in treating Q fever in children younger than 8 years of age with severe illness or who are hospitalized greater than the potential risk of dental staining. Children with mild illness who are less than 8 years of age may be treated with co-trimoxazole, but therapy should be switched to doxycycline if their course of illness worsens. + + + Other Treatments + +In cases of life threatening allergies to doxycycline and in pregnant patients, physicians may need to consider alternate antibiotics. Treatment of pregnant women diagnosed with acute Q fever with once daily co-trimoxazole throughout pregnancy has been shown to significantly decrease the risk of adverse consequences for the fetus.",CDC,Q Fever +What is (are) Q Fever ?,"More detailed information on the diagnosis, management, and treatment of Q fever is available in other sections of this web site and in the materials referenced in the section titled “Further Reading”. + How to Contact the Rickettsial Zoonoses Branch at CDC + +The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding Q fever. If a consultation with a CDC scientist specializing in Q fever is advised, your call will be appropriately forwarded. + Case Definitions + +As of January 1, 2009, Q fever infections are reported under distinct reporting categories described in the 2009 Q fever surveillance case definition. +2009 Q Fever Case Definition + Case Report Forms + +For confirmed and probable cases of Q fever that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. + + + + + + How to Submit Specimens to CDC for Q FeverTesting + +Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. Laboratory testing is available at many commercial laboratories. + State Health Departments + +Specimens may be submitted to CDC for reference testing for Q fever. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). + U.S. Healthcare Providers + +Q fever laboratory testing is available at many commercial laboratories. U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department and request assistance with specimen submission and reporting of infection. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect Q fever case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on Q fever may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. + Non-U.S. Healthcare Providers + +Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect Q fever case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.",CDC,Q Fever +How to prevent Q Fever ?,"In the United States, Q fever outbreaks have resulted mainly from occupational exposure involving veterinarians, meat processing plant workers, sheep and dairy workers, livestock farmers, and researchers at facilities housing sheep. Prevention and control efforts should be directed primarily toward these groups and environments. + +The following measures should be used in the prevention and control of Q fever: + + - Educate the public on sources of infection. + - Appropriately dispose of placenta, birth products, fetal membranes, and aborted fetuses at facilities housing sheep and goats. + - Restrict access to barns and laboratories used in housing potentially infected animals. + - Use appropriate procedures for bagging, autoclaving, and washing of laboratory clothing. + - Vaccinate (where possible) individuals engaged in research with pregnant sheep or live C. burnetii. + - Quarantine imported animals. + - Ensure that holding facilities for sheep should be located away from populated areas. Animals should be routinely tested for antibodies to C. burnetii, and measures should be implemented to prevent airflow to other occupied areas. + - Counsel persons at highest risk for developing chronic Q fever, especially persons with pre-existing cardiac valvular disease or individuals with vascular grafts. + + +A vaccine for Q fever has been developed and has successfully protected humans in occupational settings in Australia. However, this vaccine is not commercially available in the United States. Persons wishing to be vaccinated should first have a skin test to determine a history of previous exposure. Individuals who have previously been exposed to C. burnetii should not receive the vaccine because severe reactions, localized to the area of the injected vaccine, may occur. A vaccine for use in animals has also been developed, but it is not available in the United States. + Significance for Bioterrorism + +Coxiella burnetii is a highly infectious agent that is rather resistant to heat and drying. It can become airborne and inhaled by humans. A single C. burnetii organism may cause disease in a susceptible person. This agent has a past history of being developed for use in biological warfare and is considered a potential terrorist threat.",CDC,Q Fever +what is botulism?,"Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. Wound botulism is caused by toxin produced from a wound infected with Clostridium botulinum. Infant botulism is caused by consuming the spores of the botulinum bacteria, which then grow in the intestines and release toxin. Adult intestinal toxemia (adult intestinal colonization) botulism is a very rare kind of botulism that occurs among adults by the same route as infant botulism. Lastly, iatrogenic botulism can occur from accidental overdose of botulinum toxin. All forms of botulism can be fatal and are considered medical emergencies. Foodborne botulism is a public health emergency because many people can be poisoned by eating a contaminated food.",CDC,Botulism +how common is botulism?,"In the United States, an average of 145 cases are reported each year.Of these, approximately 15% are foodborne, 65% are infant botulism, and 20% are wound. Adult intestinal colonization and iatrogenic botulism also occur, but rarely. Outbreaks of foodborne botulism involving two or more persons occur most years and are usually caused by home-canned foods. Most wound botulism cases are associated with black-tar heroin injection, especially in California.",CDC,Botulism +what are the symptoms of botulism?,"The classic symptoms of botulism include double vision, blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Infants with botulism appear lethargic, feed poorly, are constipated, and have a weak cry and poor muscle tone. These are all symptoms of the muscle paralysis caused by the bacterial toxin. If untreated, these symptoms may progress to cause paralysis of the respiratory muscles, arms, legs, and trunk. In foodborne botulism, symptoms generally begin 18 to 36 hours after eating a contaminated food, but they can occur as early as 6 hours or as late as 10 days.",CDC,Botulism +how is botulism diagnosed?,"Physicians may consider the diagnosis if the patient's history and physical examination suggest botulism. However, these clues are usually not enough to allow a diagnosis of botulism. Other diseases such as Guillain-Barré syndrome, stroke, and myasthenia gravis can appear similar to botulism, and special tests may be needed to exclude these other conditions. These tests may include a brain scan, spinal fluid examination, nerve conduction test (electromyography, or EMG), and a tensilon test for myasthenia gravis. Tests for botulinum toxin and for bacteria that cause botulism can be performed at some state health department laboratories and at CDC.",CDC,Botulism +how can botulism be treated?,"The respiratory failure and paralysis that occur with severe botulism may require a patient to be on a breathing machine (ventilator) for weeks or months, plus intensive medical and nursing care. The paralysis slowly improves. Botulism can be treated with an antitoxin which blocks the action of toxin circulating in the blood. Antitoxin for infants is available from the California Department of Public Health, and antitoxin for older children and adults is available through CDC.If given before paralysis is complete, antitoxin can prevent worsening and shorten recovery time. Physicians may try to remove contaminated food still in the gut by inducing vomiting or by using enemas. Wounds should be treated, usually surgically, to remove the source of the toxin-producing bacteria followed by administration of appropriate antibiotics. Good supportive care in a hospital is the mainstay of therapy for all forms of botulism.",CDC,Botulism +are there complications from botulism?,"Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. Patients who survive an episode of botulism poisoning may have fatigue and shortness of breath for years and long-term therapy may be needed to aid recovery.",CDC,Botulism +how can botulism be prevented?,"Many cases of botulism are preventable. Foodborne botulism has often been from home-canned foods with low acid content, such as asparagus, green beans, beets and corn and is caused by failure to follow proper canning methods. However, seemingly unlikely or unusual sources are found every decade, with the common problem of improper handling during manufacture, at retail, or by consumers; some examples are chopped garlic in oil, canned cheese sauce, chile peppers, tomatoes, carrot juice, and baked potatoes wrapped in foil. In Alaska, foodborne botulism is caused by fermented fish and other aquatic game foods. Persons who do home canning should follow strict hygienic procedures to reduce contamination of foods, and carefully follow instructions on safe home canning including the use of pressure canners/cookers as recommended through county extension services or from the US Department of Agriculture. Oils infused with garlic or herbs should be refrigerated. Potatoes which have been baked while wrapped in aluminum foil should be kept hot until served or refrigerated. Because the botulinum toxin is destroyed by high temperatures, persons who eat home-canned foods should consider boiling the food for 10 minutes before eating it to ensure safety. Wound botulism can be prevented by promptly seeking medical care for infected wounds and by not using injectable street drugs. Most infant botulism cases cannot be prevented because the bacteria that causes this disease is in soil and dust. The bacteria can be found inside homes on floors, carpet, and countertops even after cleaning. Honey can contain the bacteria that causes infant botulism so, children less than 12 months old should not be fed honey. Honey is safe for persons 1 year of age and older.",CDC,Botulism +what are public health agencies doing to prevent or control botulism?,"Public education about botulism prevention is an ongoing activity. Information about safe canning is widely available for consumers. Persons in state health departments and at CDC are knowledgeable about botulism and available to consult with physicians 24 hours a day. If antitoxin is needed to treat a patient, it can be quickly delivered to a physician anywhere in the country. Suspected outbreaks of botulism are quickly investigated, and if they involve a commercial product, the appropriate control measures are coordinated among public health and regulatory agencies. Physicians should immediately report suspected cases of botulism to their state health department. + +For information and quidelines on canning foods at home: USDA Home Canning Guide",CDC,Botulism +What is (are) Parasites - Schistosomiasis ?,"Schistosomiasis, also known as bilharzia, is a disease caused by parasitic worms. Infection with Schistosoma mansoni, S. haematobium, and S. japonicum causes illness in humans; less commonly, S. mekongi and S. intercalatum can cause disease. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide.",CDC,Parasites - Schistosomiasis +Who is at risk for Parasites - Schistosomiasis? ?,"Schistosomiasis is an important cause of disease in many parts of the world, most commonly in places with poor sanitation. School-age children who live in these areas are often most at risk because they tend to spend time swimming or bathing in water containing infectious cercariae. +If you live in, or travel to, areas where schistosomiasis is found and are exposed to contaminated freshwater, you are at risk. + +Areas where human schistosomiasis is found include: + + - Schistosoma mansoni + + - distributed throughout Africa: There is risk of infection in freshwater in southern and sub-Saharan Africa–including the great lakes and rivers as well as smaller bodies of water. Transmission also occurs in the Nile River valley in Sudan and Egypt + - South America: including Brazil, Suriname, Venezuela + - Caribbean (risk is low): Dominican Republic, Guadeloupe, Martinique, and Saint Lucia. + + - S. haematobium + + - distributed throughout Africa: There is risk of infection in freshwater in southern and sub-Saharan Africa–including the great lakes and rivers as well as smaller bodies of water. Transmission also occurs in the Nile River valley in Egypt and the Mahgreb region of North Africa. + - found in areas of the Middle East + + - S. japonicum + + - found in Indonesia and parts of China and Southeast Asia + + - S. mekongi + + - found in Cambodia and Laos + + - S. intercalatum + + - found in parts of Central and West Africa.",CDC,Parasites - Schistosomiasis +How to diagnose Parasites - Schistosomiasis ?,"Stool or urine samples can be examined microscopically for parasite eggs (stool for S. mansoni or S. japonicum eggs and urine for S. haematobium eggs). The eggs tend to be passed intermittently and in small amounts and may not be detected, so it may be necessary to perform a blood (serologic) test. + +More on: Resources for Health Professionals: Diagnosis",CDC,Parasites - Schistosomiasis +What are the treatments for Parasites - Schistosomiasis ?,"Safe and effective medication is available for treatment of both urinary and intestinal schistosomiasis. Praziquantel, a prescription medication, is taken for 1-2 days to treat infections caused by all Schistosoma species. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Schistosomiasis +How to prevent Parasites - Schistosomiasis ?,"Prevention + +No vaccine is available. + +The best way to prevent schistosomiasis is to take the following steps if you are visiting or live in an area where schistosomiasis is transmitted: + + - Avoid swimming or wading in freshwater when you are in countries in which schistosomiasis occurs. Swimming in the ocean and in chlorinated swimming pools is safe. + - Drink safe water. Although schistosomiasis is not transmitted by swallowing contaminated water, if your mouth or lips come in contact with water containing the parasites, you could become infected. Because water coming directly from canals, lakes, rivers, streams, or springs may be contaminated with a variety of infectious organisms, you should either bring your water to a rolling boil for 1 minute or filter water before drinking it. Bring your water to a rolling boil for at least 1 minute will kill any harmful parasites, bacteria, or viruses present. Iodine treatment alone WILL NOT GUARANTEE that water is safe and free of all parasites. + - Water used for bathing should be brought to a rolling boil for 1 minute to kill any cercariae, and then cooled before bathing to avoid scalding. Water held in a storage tank for at least 1 - 2 days should be safe for bathing. + - Vigorous towel drying after an accidental, very brief water exposure may help to prevent the Schistosoma parasite from penetrating the skin. However, do not rely on vigorous towel drying alone to prevent schistosomiasis. + + +Those who have had contact with potentially contaminated water overseas should see their health care provider after returning from travel to discuss testing. + +More on: Schistosomiasis in Travelers + + + + Control + +In countries where schistosomiasis causes significant disease, control efforts usually focus on: + + - reducing the number of infections in people and/or + - eliminating the snails that are required to maintain the parasite’s life cycle. + + +For all species that cause schistosomiasis, improved sanitation could reduce or eliminate transmission of this disease. In some areas with lower transmission levels, elimination of schistosomiasis is considered a ""winnable battle"" by public health officials. + +Control measures can include mass drug treatment of entire communities and targeted treatment of school-age children. Some of the problems with control of schistosomiasis include: + + - Chemicals used to eliminate snails in freshwater sources may harm other species of animals in the water and, if treatment is not sustained, the snails may return to those sites afterwards. + - For certain species of the parasite, such as S. japonicum, animals such as cows or water buffalo can also be infected. Runoff from pastures (if the cows are infected) can contaminate freshwater sources.",CDC,Parasites - Schistosomiasis +What is (are) ?,"On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page",CDC, +what is staphylococcus aureus?,"On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page",CDC, +how can the spread of visa and vrsa be prevented?,"On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page",CDC, +what is cdc doing to address visa and vrsa?,"On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page",CDC, +how vaccines prevent disease,"Why Are Childhood Vaccines So Important? It is always better to prevent a disease than to treat it after it occurs. Diseases that used to be common in this country and around the world, including polio, measles, diphtheria, pertussis (whooping cough), rubella (German measles), mumps, tetanus, rotavirus and Haemophilus influenzae type b (Hib) can now be prevented by vaccination. Thanks to a vaccine, one of the most terrible diseases in history – smallpox – no longer exists outside the laboratory. Over the years vaccines have prevented countless cases of disease and saved millions of lives. Immunity Protects us From Disease Immunity is the body’s way of preventing disease. Children are born with an immune system composed of cells, glands, organs, and fluids located throughout the body. The immune system recognizes germs that enter the body as ""foreign invaders” (called antigens) and produces proteins called antibodies to fight them. The first time a child is infected with a specific antigen (say measles virus), the immune system produces antibodies designed to fight it. This takes time . . . usually the immune system can’t work fast enough to prevent the antigen from causing disease, so the child still gets sick. However, the immune system “remembers” that antigen. If it ever enters the body again, even after many years, the immune system can produce antibodies fast enough to keep it from causing disease a second time. This protection is called immunity. It would be nice if there were a way to give children immunity to a disease without their having to get sick first. In fact there is: Vaccines contain the same antigens (or parts of antigens) that cause diseases. For example, measles vaccine contains measles virus. But the antigens in vaccines are either killed, or weakened to the point that they don’t cause disease. However, they are strong enough to make the immune system produce antibodies that lead to immunity. In other words, a vaccine is a safer substitute for a child’s first exposure to a disease. The child gets protection without having to get sick. Through vaccination, children can develop immunity without suffering from the actual diseases that vaccines prevent. Top of Page More Facts Newborn babies are immune to many diseases because they have antibodies they got from their mothers. However, this immunity goes away during the first year of life. If an unvaccinated child is exposed to a disease germ, the child's body may not be strong enough to fight the disease. Before vaccines, many children died from diseases that vaccines now prevent, such as whooping cough, measles, and polio. Those same germs exist today, but because babies are protected by vaccines, we don’t see these diseases nearly as often. Immunizing individual children also helps to protect the health of our community, especially those people who cannot be immunized (children who are too young to be vaccinated, or those who can’t receive certain vaccines for medical reasons), and the small proportion of people who don’t respond to a particular vaccine. Vaccine-preventable diseases have a costly impact, resulting in doctor's visits, hospitalizations, and premature deaths. Sick children can also cause parents to lose time from work. Related Pages Why Immunize? Vaccines: A Safe Choice Parents Guide to Immunizations For Parents: How Vaccines Prevent Diseases Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.",CDC, +Who is at risk for ? ?,"Measles: Make Sure Your Child Is Protected with MMR Vaccine Measles starts with a fever. Soon after, it causes a cough, runny nose, and red eyes. Then a rash of tiny, red spots breaks out. Measles can be serious for young children. Learn about protecting your child from measles with MMR vaccine. Protect your child at every age. Click on your child's age group for vaccine information. View or print age-specific vaccine information [252 KB, 27 pages] Records & Requirements Recording immunizations Finding immunization records Interpreting abbreviations on records Immunization requirements for child care and schools Making the Vaccine Decision How vaccines prevent diseases Vaccine side effects/risks Vaccine ingredients Ensuring vaccine safety Vaccines and your child’s immune system Learn More About Preteen and Teen Vaccines The Vaccines For Children program has helped prevent diseases and save lives…big time! [enlarged view] Watch The Immunization Baby Book Learn what vaccines your child needs, when they are needed, and why it is so important to follow the CDC’s recommended immunization schedule as you flip through this video baby book (4:04 mins) on CDC-TV or on YouTube. Who & When (Immunization Schedules) Birth through 6 Years Schedule [2 pages] Create a schedule for your child 7 through 18 Years Schedule [2 pages] 19 Years and Older Schedule [2 pages] Learn more about how CDC sets the immunization schedule for your family Knowing the childhood vaccination rates in your community is important. More Diseases and the Vaccines that Prevent Them Learn more about the 16 diseases that can be prevented with vaccines, as well as the benefits and risks of vaccination. Learn More About... Adoption and Vaccines Pregnancy Help Paying for Vaccines Evaluating Information on the Web",CDC, +How to prevent ?,"Vaccines and Preventable Diseases On this Page Vaccine Shortages & Delays Potential New Vaccines Vaccines: The Basics FAQ about Vaccines & Diseases they Prevent VACCINE-PREVENTABLE DISEASES OR, find it by Vaccine Anthrax Cervical Cancer Diphtheria Hepatitis A Hepatitis B Haemophilus influenzae type b (Hib) Human Papillomavirus (HPV) H1N1 Flu (Swine Flu) Influenza (Seasonal Flu) Japanese Encephalitis (JE) Measles Meningococcal Mumps Pertussis (Whooping Cough) Pneumococcal Poliomyelitis (Polio) Rabies Rotavirus Rubella (German Measles) Shingles (Herpes Zoster) Smallpox Tetanus (Lockjaw) Tuberculosis Typhoid Fever Varicella (Chickenpox) Yellow Fever At a Glance Vaccine-preventable disease levels are at or near record lows. Even though most infants and toddlers have received all recommended vaccines by age 2, many under-immunized children remain, leaving the potential for outbreaks of disease. Many adolescents and adults are under-immunized as well, missing opportunities to protect themselves against diseases such as Hepatitis B, influenza, and pneumococcal disease. CDC works closely with public health agencies and private partners to improve and sustain immunization coverage and to monitor the safety of vaccines so that this public health success story can be maintained and expanded in the century to come. Vaccine Shortages & Delays The latest national information about vaccine supplies and guidance for healthcare providers who are facing vaccine shortages or delays Chart of shortages & delays Potential New Vaccines Resources for finding information on potential vaccines, research and development status, licensure status, etc. New Vaccine Surveillance Network Program evaluates impact of new vaccines and vaccine policies through a network of 6 US sites Status of Licensure and Recs for New Vaccines American Academy of Pediatrics (AAP) Potential New Vaccines Immunization Action Coalition (IAC) Vaccines: The Basics Without vaccines, epidemics of many preventable diseases could return, resulting in increased – and unnecessary – illness, disability, and death. All about vaccines How vaccines prevent disease List of all vaccine-preventable diseases List of all vaccines used in United States Photos of vaccine-preventable diseases and/or people affected by them View all... FAQ about Vaccines & Diseases they Prevent What are the ingredients in vaccines? What vaccines do adults need? What vaccines do children need? What vaccines are used in the United States? What diseases do vaccines prevent? View all... Related Pages Basics and Common Questions Who Should NOT Get These Vaccines? Unprotected Stories Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.",CDC, +what diseases are vaccine preventable,"List of Vaccine-Preventable Diseases The following links will lead you to the main page that describes both the disease and the vaccine(s). Vaccines are available for all of the following vaccine-preventable diseases (unless otherwise noted): Anthrax Cervical Cancer (Human Papillomavirus) Diphtheria Hepatitis A Hepatitis B Haemophilus influenzae type b (Hib) Human Papillomavirus (HPV) Influenza (Flu) Japanese encephalitis (JE) Measles Meningococcal Mumps Pertussis Pneumococcal Polio Rabies Rotavirus Rubella Shingles (Herpes Zoster) Smallpox Tetanus Typhoid Tuberculosis (TB) Varicella (Chickenpox) Yellow Fever Related Pages For Parents: What You Need to Know List of Vaccines Used in U.S. Photos of diseases Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.",CDC, +Who is at risk for Nocardiosis? ?,"The bacteria that cause nocardiosis are commonly found in soil and water. + +You could become sick with nocardiosis if: + + - You inhale (breathe in) the bacteria + - Bacteria gets into an open wound or cut + + +In rare cases, infection can occur during surgical procedures. + +Fortunately, nocardiosis is not spread person to person, so being around someone who has the disease will not make you sick.",CDC,Nocardiosis +Who is at risk for Nocardiosis? ?,"People with very weak immune (body defense) systems are at risk for getting nocardiosis. + +Several diseases and circumstances can cause the immune system to be weak. These include: + + - Diabetes + - Cancer + - HIV/AIDS + - Pulmonary alveolar proteinosis (an illness that causes the air sacs of the lungs to become plugged) + - Connective tissue disorder (a disease that affects the tissue that connects and supports different parts of the body) + - Alcoholism + - Having a bone marrow or solid organ transplant + - Taking high doses of drugs called corticosteroids + + +In the United States, it has been estimated that 500-1,000 new cases of nocardiosis infection occur every year. Approximately 60% of nocardiosis cases are associated with pre-existing immune compromise. + +In addition, men have a greater risk of getting the infection than women; for every female who gets sick with nocardiosis, there are about 3 males who get the disease.",CDC,Nocardiosis +What are the symptoms of Nocardiosis ?,"The symptoms of nocardiosis vary depending on which part of your body is affected. + +Nocardiosis infection most commonly occurs in the lung. If your lungs are infected, you can experience: + + - Fever + - Weight loss + - Night sweats + - Cough + - Chest pain + - Pneumonia + + +When lung infections occur, the infection commonly spreads to the brain. If your central nervous system (brain and spinal cord) is infected, you can experience: + + - Headache + - Weakness + - Confusion + - Seizures (sudden, abnormal electrical activity in the brain) + + +Skin infections can occur when open wounds or cuts come into contact with contaminated soil. If your skin is affected, you can experience: + + - Ulcers + - Nodules sometimes draining and spreading along lymph nodes",CDC,Nocardiosis +What are the treatments for Nocardiosis ?,"If you think you might be sick with nocardiosis, talk to your doctor. + +He or she can help find out if you have the disease by performing tests that can identify the bacteria that causes nocardiosis. + +Testing may involve taking tissue samples from the part of the body that is infected. Tissue samples may include the: + + - Brain + - Skin + - Lungs (or other parts of the lower airways) + - Mucus from the lower airways",CDC,Nocardiosis +What is (are) Parasites - Lice - Head Lice ?,"The head louse, or Pediculus humanus capitis, is a parasitic insect that can be found on the head, eyebrows, and eyelashes of people. Head lice feed on human blood several times a day and live close to the human scalp. Head lice are not known to spread disease.",CDC,Parasites - Lice - Head Lice +Who is at risk for Parasites - Lice - Head Lice? ?,"In the United States, infestation with head lice (Pediculus humanus capitis) is most common among preschool- and elementary school-age children and their household members and caretakers. Head lice are not known to transmit disease; however, secondary bacterial infection of the skin resulting from scratching can occur with any lice infestation. + +Getting head lice is not related to cleanliness of the person or his or her environment. + +Head lice are mainly spread by direct contact with the hair of an infested person. The most common way to get head lice is by head-to-head contact with a person who already has head lice. Such contact can be common among children during play at: + + - school, + - home, and + - elsewhere (e.g., sports activities, playgrounds, camp, and slumber parties). + + +Uncommonly, transmission may occur by: + + - wearing clothing, such as hats, scarves, coats, sports uniforms, or hair ribbons worn by an infested person; + - using infested combs, brushes or towels; or + - lying on a bed, couch, pillow, carpet, or stuffed animal that has recently been in contact with an infested person. + + +Reliable data on how many people get head lice each year in the United States are not available; however, an estimated 6 million to 12 million infestations occur each year in the United States among children 3 to 11 years of age. Some studies suggest that girls get head lice more often than boys, probably due to more frequent head-to-head contact. + +In the United States, infestation with head lice is much less common among African-Americans than among persons of other races. The head louse found most frequently in the United States may have claws that are better adapted for grasping the shape and width of some types of hair but not others.",CDC,Parasites - Lice - Head Lice +How to diagnose Parasites - Lice - Head Lice ?,"Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person. + +Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb may facilitate identification of live lice. + +If crawling lice are not seen, finding nits attached firmly within ¼ inch of the base of hair shafts suggests, but does not confirm, the person is infested. Nits frequently are seen on hair behind the ears and near the back of the neck. Nits that are attached more than ¼ inch from the base of the hair shaft are almost always non-viable (hatched or dead). Head lice and nits can be visible with the naked eye, although use of a magnifying lens may be necessary to find crawling lice or to identify a developing nymph inside a viable nit. Nits are often confused with other particles found in hair such as dandruff, hair spray droplets, and dirt particles. + +If no nymphs or adults are seen, and the only nits found are more than ¼ inch from the scalp, then the infestation is probably old and no longer active — and does not need to be treated.",CDC,Parasites - Lice - Head Lice +What are the treatments for Parasites - Lice - Head Lice ?,"General Guidelines + +Treatment for head lice is recommended for persons diagnosed with an active infestation. All household members and other close contacts should be checked; those persons with evidence of an active infestation should be treated. Some experts believe prophylactic treatment is prudent for persons who share the same bed with actively-infested individuals. All infested persons (household members and close contacts) and their bedmates should be treated at the same time. + +Some pediculicides (medicines that kill lice) have an ovicidal effect (kill eggs). For pediculicides that are only weakly ovicidal or not ovicidal, routine retreatment is recommended. For those that are more strongly ovicidal, retreatment is recommended only if live (crawling) lice are still present several days after treatment (see recommendation for each medication). To be most effective, retreatment should occur after all eggs have hatched but before new eggs are produced. + +When treating head lice, supplemental measures can be combined with recommended medicine (pharmacologic treatment); however, such additional (non-pharmacologic) measures generally are not required to eliminate a head lice infestation. For example, hats, scarves, pillow cases, bedding, clothing, and towels worn or used by the infested person in the 2-day period just before treatment is started can be machine washed and dried using the hot water and hot air cycles because lice and eggs are killed by exposure for 5 minutes to temperatures greater than 53.5°C (128.3°F). Items that cannot be laundered may be dry-cleaned or sealed in a plastic bag for two weeks. Items such as hats, grooming aids, and towels that come in contact with the hair of an infested person should not be shared. Vacuuming furniture and floors can remove an infested person's hairs that might have viable nits attached. + + +Treatment of the infested person(s): Requires using an Over-the-counter (OTC) or prescription medication. Follow these treatment steps: + + - Before applying treatment, it may be helpful to remove clothing that can become wet or stained during treatment. + - Apply lice medicine, also called pediculicide, according to the instructions contained in the box or printed on the label. If the infested person has very long hair (longer than shoulder length), it may be necessary to use a second bottle. Pay special attention to instructions on the label or in the box regarding how long the medication should be left on the hair and how it should be washed out. + + + + + + + - Have the infested person put on clean clothing after treatment. + - If a few live lice are still found 8–12 hours after treatment, but are moving more slowly than before, do not retreat. The medicine may take longer to kill all the lice. Comb dead and any remaining live lice out of the hair using a fine–toothed nit comb. + - If, after 8–12 hours of treatment, no dead lice are found and lice seem as active as before, the medicine may not be working. Do not retreat until speaking with your health care provider; a different pediculicide may be necessary. If your health care provider recommends a different pediculicide, carefully follow the treatment instructions contained in the box or printed on the label. + - Nit (head lice egg) combs, often found in lice medicine packages, should be used to comb nits and lice from the hair shaft. Many flea combs made for cats and dogs are also effective. + - After each treatment, checking the hair and combing with a nit comb to remove nits and lice every 2–3 days may decrease the chance of self–reinfestation. Continue to check for 2–3 weeks to be sure all lice and nits are gone. Nit removal is not needed when treating with spinosad topical suspension. + - Retreatment is meant to kill any surviving hatched lice before they produce new eggs. For some drugs, retreatment is recommended routinely about a week after the first treatment (7–9 days, depending on the drug) and for others only if crawling lice are seen during this period. Retreatment with lindane shampoo is not recommended. + + + +Supplemental Measures: Head lice do not survive long if they fall off a person and cannot feed. You don't need to spend a lot of time or money on housecleaning activities. Follow these steps to help avoid re–infestation by lice that have recently fallen off the hair or crawled onto clothing or furniture. + + - +Machine wash and dry clothing, bed linens, and other items that the infested person wore or used during the 2 days before treatment using the hot water (130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry–cleaned +OR +sealed in a plastic bag and stored for 2 weeks. + - Soak combs and brushes in hot water (at least 130°F) for 5–10 minutes. + - Vacuum the floor and furniture, particularly where the infested person sat or lay. However, the risk of getting infested by a louse that has fallen onto a rug or carpet or furniture is very low. Head lice survive less than 1–2 days if they fall off a person and cannot feed; nits cannot hatch and usually die within a week if they are not kept at the same temperature as that found close to the human scalp. Spending much time and money on housecleaning activities is not necessary to avoid reinfestation by lice or nits that may have fallen off the head or crawled onto furniture or clothing. + - Do not use fumigant sprays; they can be toxic if inhaled or absorbed through the skin. + + + + + +Prevent Reinfestation: + +More on: Prevention & Control + + + + Over-the-counter Medications + +Many head lice medications are available ""over-the-counter"" without a prescription at a local drug store or pharmacy. Each over-the-counter product approved by the FDA for the treatment of head lice contains one of the following active ingredients. If crawling lice are still seen after a full course of treatment contact your health care provider. + + - +Pyrethrins combined with piperonyl butoxide; + Brand name products: A–200*, Pronto*, R&C*, Rid*, Triple X*, Licide* +Pyrethrins are naturally occurring pyrethroid extracts from the chrysanthemum flower. Pyrethrins are safe and effective when used as directed. Pyrethrins can only kill live lice, not unhatched eggs (nits). A second treatment is recommended 9 to 10 days after the first treatment to kill any newly hatched lice before they can produce new eggs. Pyrethrins generally should not be used by persons who are allergic to chrysanthemums or ragweed. Pyrethrin is approved for use on children 2 years of age and older. + - +Permethrin lotion, 1%; + Brand name product: Nix*. +Permethrin is a synthetic pyrethroid similar to naturally occurring pyrethrins. Permethrin lotion 1% is approved by the FDA for the treatment of head lice. Permethrin is safe and effective when used as directed. Permethrin kills live lice but not unhatched eggs. Permethrin may continue to kill newly hatched lice for several days after treatment. A second treatment often is necessary on day 9 to kill any newly hatched lice before they can produce new eggs. Permethrin is approved for use on children 2 months of age and older. + + + + + Prescription Medications + +The following medications, in alphabetical order, approved by the U.S. Food and Drug Administration (FDA) for the treatment of head lice are available only by prescription. If crawling lice are still seen after a full course of treatment, contact your health care provider. + + - +Benzyl alcohol lotion, 5%; + Brand name product: Ulesfia lotion* +Benzyl alcohol is an aromatic alcohol. Benzyl alcohol lotion, 5% has been approved by the FDA for the treatment of head lice and is considered safe and effective when used as directed. It kills lice but it is not ovicidal(i.e., does not kill lice eggs). A second treatment is needed 9 days after the first treatment to kill any newly hatched lice before they can produce new eggs. Benzyl alcohol lotion is intended for use on persons who are 6 months of age and older and its safety in persons aged more 60 years has not been established. It can be irritating to the skin. + - +Ivermectin lotion, 0.5%; + Brand name product: Sklice* +Ivermectin lotion, 0.5% was approved by the FDA in 2012 for treatment of head lice in persons 6 months of age and older. It is not ovicidal, but appears to prevent nymphs (newly hatched lice) from surviving. It is effective in most patients when given as a single application on dry hair without nit combing. It should not be used for retreatment without talking to a healthcare provider. +Given as a tablet in mass drug administrations, oral ivermectin has been used extensively and safely for over two decades in many countries to treat filarial worm infections. Although not FDA-approved for the treatment of lice, ivermectin tablets given in a single oral dose of 200 micrograms/kg repeated in 10 days or 400 micrograms/kg repeated in 7 days has been shown effective against head lice. It should not be used in children weighing less than 15 kg or in pregnant women. + - +Spinosad 0.9% topical suspension; + Brand name product: Natroba* +Spinosad is derived from soil bacteria. Spinosad topical suspension, 0.9%, was approved by the FDA in 2011. Since it kills live lice as well as unhatched eggs, retreatment is usually not needed. Nit combing is not required. Spinosad topical suspension is approved for the treatment of children 6 months of age and older. It is safe and effective when used as directed. Repeat treatment should be given only if live (crawling) lice are seen 7 days after the first treatment. + + +For second–line treatment only: + + - +Lindane shampoo 1%; + Brand name products: None available +Lindane is an organochloride. The American Academy of Pediatrics (AAP) no longer recommends it as a pediculocide. Although lindane shampoo 1% is approved by the FDA for the treatment of head lice, it is not recommended as a first–line treatment. Overuse, misuse, or accidentally swallowing lindane can be toxic to the brain and other parts of the nervous system; its use should be restricted to patients for whom prior treatments have failed or who cannot tolerate other medications that pose less risk. Lindane should not be used to treat premature infants, persons with HIV, a seizure disorder, women who are pregnant or breast–feeding, persons who have very irritated skin or sores where the lindane will be applied, infants, children, the elderly, and persons who weigh less than 110 pounds. Retreatment should be avoided. + + + + +When treating head lice + + - Do not use extra amounts of any lice medication unless instructed to do so by your physician or pharmacist. The drugs used to treat lice are insecticides and can be dangerous if they are misused or overused. + - All the medications listed above should be kept out of the eyes. If they get onto the eyes, they should be immediately flushed away. + - Do not treat an infested person more than 2–3 times with the same medication if it does not seem to be working. This may be caused by using the medicine incorrectly or by resistance to the medicine. Always seek the advice of your health care provider if this should happen. He/she may recommend an alternative medication. + - Do not use different head lice drugs at the same time unless instructed to do so by your physician or pharmacist. + + + + +*Use of trade names is for identification purposes only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.",CDC,Parasites - Lice - Head Lice +How to prevent Parasites - Lice - Head Lice ?,"Head lice are spread most commonly by direct head-to-head (hair-to-hair) contact. However, much less frequently they are spread by sharing clothing or belongings onto which lice have crawled or nits attached to shed hairs may have fallen. The risk of getting infested by a louse that has fallen onto a carpet or furniture is very small. Head lice survive less than 1–2 days if they fall off a person and cannot feed; nits cannot hatch and usually die within a week if they are not kept at the same temperature as that found close to the scalp. + +The following are steps that can be taken to help prevent and control the spread of head lice: + + - Avoid head-to-head (hair-to-hair) contact during play and other activities at home, school, and elsewhere (sports activities, playground, slumber parties, camp). + - Do not share clothing such as hats, scarves, coats, sports uniforms, hair ribbons, or barrettes. + - Do not share combs, brushes, or towels. Disinfest combs and brushes used by an infested person by soaking them in hot water (at least 130°F) for 5–10 minutes. + - Do not lie on beds, couches, pillows, carpets, or stuffed animals that have recently been in contact with an infested person. + - Machine wash and dry clothing, bed linens, and other items that an infested person wore or used during the 2 days before treatment using the hot water (130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. + - Vacuum the floor and furniture, particularly where the infested person sat or lay. However, spending much time and money on housecleaning activities is not necessary to avoid reinfestation by lice or nits that may have fallen off the head or crawled onto furniture or clothing. + - Do not use fumigant sprays or fogs; they are not necessary to control head lice and can be toxic if inhaled or absorbed through the skin. + + +To help control a head lice outbreak in a community, school, or camp, children can be taught to avoid activities that may spread head lice.",CDC,Parasites - Lice - Head Lice +what is yersiniosis for Yersinia ?,"Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs most often in young children. Common symptoms in children are fever, abdominal pain, and diarrhea, which is often bloody. Symptoms typically develop 4 to 7 days after exposure and may last 1 to 3 weeks or longer. In older children and adults, right-sided abdominal pain and fever may be the predominant symptoms, and may be confused with appendicitis. In a small proportion of cases, complications such as skin rash, joint pains, or spread of bacteria to the bloodstream can occur.",CDC,Yersinia +how common is infection with y. enterocolitica for Yersinia ?,"Y. enterocolitica is a relatively infrequent cause of diarrhea and abdominal pain. Based on data from the Foodborne Diseases Active Surveillance Network (FoodNet), which measures the burden and sources of specific diseases over time, approximately one culture-confirmed Y. enterocolitica infection per 100,000 persons occurs each year. Children are infected more often than adults, and the infection is more common in the winter.",CDC,Yersinia +how can y. enterocolitica infections be diagnosed for Yersinia ?,"Y. enterocolitica infections are generally diagnosed by detecting the organism in the stools. Many laboratories do not routinely test for Y. enterocolitica,so it is important to notify laboratory personnel when infection with this bacterium is suspected so that special tests can be done. The organism can also be recovered from other sites, including the throat, lymph nodes, joint fluid, urine, bile, and blood.",CDC,Yersinia +how can y. enterocolitica infections be treated for Yersinia ?,"Uncomplicated cases of diarrhea due to Y. enterocolitica usually resolve on their own without antibiotic treatment. However, in more severe or complicated infections, antibiotics such as aminoglycosides, doxycycline, trimethoprim-sulfamethoxazole, or fluoroquinolones may be useful.",CDC,Yersinia +what are public health agencies doing to prevent or control yersiniosis for Yersinia ?,"The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. CDC has collaborated in an educational campaign to increase public awareness about prevention of Y. enterocolitica infections. The U.S. Food and Drug Administration inspects imported foods and milk pasteurization plants and promotes better food preparation techniques in restaurants and food processing plants. The U.S. Department of Agriculture monitors the health of food animals and is responsible for the quality of slaughtered and processed meat. The U.S. Environmental Protection Agency regulates and monitors the safety of our drinking water supplies.",CDC,Yersinia +What is (are) Parasites - Taeniasis ?,"Taeniasis in humans is a parasitic infection caused by the tapeworm species Taenia saginata (beef tapeworm), Taenia solium (pork tapeworm), and Taenia asiatica (Asian tapeworm). Humans can become infected with these tapeworms by eating raw or undercooked beef (T. saginata) or pork (T. solium and T. asiatica). People with taeniasis may not know they have a tapeworm infection because symptoms are usually mild or nonexistent. + +T. solium tapeworm infections can lead to cysticercosis, which is a disease that can cause seizures, so it is important seek treatment.",CDC,Parasites - Taeniasis +Who is at risk for Parasites - Taeniasis? ?,"The tapeworms that cause taeniasis (Taenia saginata, T. solium, and T. asiatica) are found worldwide. Eating raw or undercooked beef or pork is the primary risk factor for acquiring taeniasis. Persons who don't eat raw or undercooked beef or pork are not likely to get taeniasis. + +Infections with T. saginata occur wherever contaminated raw beef is eaten, particularly in Eastern Europe, Russia, eastern Africa and Latin America. Taeniasis due to T. saginata is rare in the United States, except in places where cattle and people are concentrated and sanitation is poor, such as around feed lots when cattle can be exposed to human feces. Tapeworm infections due to T. solium are more prevalent in under-developed communities with poor sanitation and where people eat raw or undercooked pork. Higher rates of illness have been seen in people in Latin America, Eastern Europe, sub-Saharan Africa, India, and Asia. Taenia solium taeniasis is seen in the United States, typically among Latin American immigrants. Taenia asiatica is limited to Asia and is seen mostly in the Republic of Korea, China, Taiwan, Indonesia, and Thailand. + +A disease called cysticercosis can occur when T. solium tapeworm eggs are ingested. For example, people with poor hygiene who have taeniasis -- with or without symptoms -- will shed tapeworm eggs in their feces and might accidentally contaminate their environment. This can lead to transmission of cysticercosis to themselves or others. + +More on: Cysticercosis",CDC,Parasites - Taeniasis +How to diagnose Parasites - Taeniasis ?,"Diagnosis of Taenia tapeworm infections is made by examination of stool samples; individuals should also be asked if they have passed tapeworm segments. Stool specimens should be collected on three different days and examined in the lab for Taenia eggs using a microscope. Tapeworm eggs can be detected in the stool 2 to 3 months after the tapeworm infection is established. + +Tapeworm eggs of T. solium can also infect humans, causing cysticercosis. It is important to diagnose and treat all tapeworm infections. + +More on: cysticercosis",CDC,Parasites - Taeniasis +What are the treatments for Parasites - Taeniasis ?,"Treatment is available after accurate diagnosis. Your doctor will provide prescription medication, either praziquantel or niclosamide, which is taken by mouth. The medication is also available in a children’s dosage. Work with your health care provider for proper treatment options for you and your family. + +More on: Resources For Health Professionals: Treatment",CDC,Parasites - Taeniasis +How to prevent Parasites - Taeniasis ?,"One way to prevent taeniasis is to cook meat to safe temperatures. A food thermometer should be used to measure the internal temperature of cooked meat. Do not sample meat until it is cooked. USDA recommends the following for meat preparation. + + - For Whole Cuts of Meat (excluding poultry) + + - Cook to at least 145° F (63° C) as measured with a food thermometer placed in the thickest part of the meat, then allow the meat to rest* for three minutes before carving or consuming. + + - For Ground Meat (excluding poultry) + + - Cook to at least 160° F (71° C); ground meats do not require a rest* time. + + + +*According to USDA, ""A 'rest time' is the amount of time the product remains at the final temperature, after it has been removed from a grill, oven, or other heat source. During the three minutes after meat is removed from the heat source, its temperature remains constant or continues to rise, which destroys pathogens."" + +More on: Fight BAC: Safe Food Handling",CDC,Parasites - Taeniasis +What is (are) Parasites - Hookworm ?,Hookworm is an intestinal parasite of humans. The larvae and adult worms live in the small intestine can cause intestinal disease. The two main species of hookworm infecting humans are Ancylostoma duodenale and Necator americanus.,CDC,Parasites - Hookworm +Who is at risk for Parasites - Hookworm? ?,"Hookworm is a soil-transmitted helminth (STH) and is one of the most common roundworm of humans. Infection is caused by the nematode parasites Necator americanus and Ancylostoma duodenale. Hookworm infections often occur in areas where human feces are used as fertilizer or where defecation onto soil happens. + Geographic Distribution + +The geographic distributions of the hookworm species that are intestinal parasites in human, Ancylostoma duodenale and Necator americanus, are worldwide in areas with warm, moist climates and are widely overlapping. Necator americanus was widespread in the Southeastern United States until the early 20th century.",CDC,Parasites - Hookworm +How to diagnose Parasites - Hookworm ?,"The standard method for diagnosing the presence of hookworm is by identifying hookworm eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.",CDC,Parasites - Hookworm +What are the treatments for Parasites - Hookworm ?,"Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of hookworm infections. Infections are generally treated for 1-3 days. The recommended medications are effective and appear to have few side effects. Iron supplements may also be prescribed if the infected person has anemia. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Hookworm +How to prevent Parasites - Hookworm ?,"The best way to avoid hookworm infection is not to walk barefoot in areas where hookworm is common and where there may be human fecal contamination of the soil. Also, avoid other skin contact with such soil and avoid ingesting it. + +Infection can also be prevented by not defecating outdoors and by effective sewage disposal systems.",CDC,Parasites - Hookworm +Who is at risk for Lymphocytic Choriomeningitis (LCM)? ?,"LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents. Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. Person-to-person transmission has not been reported, with the exception of vertical transmission from infected mother to fetus, and rarely, through organ transplantation.",CDC,Lymphocytic Choriomeningitis (LCM) +What are the symptoms of Lymphocytic Choriomeningitis (LCM) ?,"LCMV is most commonly recognized as causing neurological disease, as its name implies, though infection without symptoms or mild febrile illnesses are more common clinical manifestations. + +For infected persons who do become ill, onset of symptoms usually occurs 8-13 days after exposure to the virus as part of a biphasic febrile illness. This initial phase, which may last as long as a week, typically begins with any or all of the following symptoms: fever, malaise, lack of appetite, muscle aches, headache, nausea, and vomiting. Other symptoms appearing less frequently include sore throat, cough, joint pain, chest pain, testicular pain, and parotid (salivary gland) pain. + +Following a few days of recovery, a second phase of illness may occur. Symptoms may consist of meningitis (fever, headache, stiff neck, etc.), encephalitis (drowsiness, confusion, sensory disturbances, and/or motor abnormalities, such as paralysis), or meningoencephalitis (inflammation of both the brain and meninges). LCMV has also been known to cause acute hydrocephalus (increased fluid on the brain), which often requires surgical shunting to relieve increased intracranial pressure. In rare instances, infection results in myelitis (inflammation of the spinal cord) and presents with symptoms such as muscle weakness, paralysis, or changes in body sensation. An association between LCMV infection and myocarditis (inflammation of the heart muscles) has been suggested. + +Previous observations show that most patients who develop aseptic meningitis or encephalitis due to LCMV survive. No chronic infection has been described in humans, and after the acute phase of illness, the virus is cleared from the body. However, as in all infections of the central nervous system, particularly encephalitis, temporary or permanent neurological damage is possible. Nerve deafness and arthritis have been reported. + +Women who become infected with LCMV during pregnancy may pass the infection on to the fetus. Infections occurring during the first trimester may result in fetal death and pregnancy termination, while in the second and third trimesters, birth defects can develop. Infants infected In utero can have many serious and permanent birth defects, including vision problems, mental retardation, and hydrocephaly (water on the brain). Pregnant women may recall a flu-like illness during pregnancy, or may not recall any illness. + +LCM is usually not fatal. In general, mortality is less than 1%.",CDC,Lymphocytic Choriomeningitis (LCM) +Who is at risk for Lymphocytic Choriomeningitis (LCM)? ?,"Individuals of all ages who come into contact with urine, feces, saliva, or blood of wild mice are potentially at risk for infection. Owners of pet mice or hamsters may be at risk for infection if these animals originate from colonies that were contaminated with LCMV, or if their animals are infected from other wild mice. Human fetuses are at risk of acquiring infection vertically from an infected mother. + +Laboratory workers who work with the virus or handle infected animals are also at risk. However, this risk can be minimized by utilizing animals from sources that regularly test for the virus, wearing proper protective laboratory gear, and following appropriate safety precautions.",CDC,Lymphocytic Choriomeningitis (LCM) +How to diagnose Lymphocytic Choriomeningitis (LCM) ?,"During the first phase of the disease, the most common laboratory abnormalities are a low white blood cell count (leukopenia) and a low platelet count (thrombocytopenia). Liver enzymes in the serum may also be mildly elevated. After the onset of neurological disease during the second phase, an increase in protein levels, an increase in the number of white blood cells or a decrease in the glucose levels in the cerebrospinal fluid (CSF) is usually found. + +Laboratory diagnosis is usually made by detecting IgM and IgG antibodies in the CSF and serum. Virus can be detected by PCR or virus isolation in the CSF at during the acute stage of illness.",CDC,Lymphocytic Choriomeningitis (LCM) +What are the treatments for Lymphocytic Choriomeningitis (LCM) ?,"Aseptic meningitis, encephalitis, or meningoencephalitis requires hospitalization and supportive treatment based on severity. Anti-inflammatory drugs, such as corticosteroids, may be considered under specific circumstances. Although studies have shown that ribavirin, a drug used to treat several other viral diseases, is effective against LCMV in vitro, there is no established evidence to support its routine use for treatment of LCM in humans.",CDC,Lymphocytic Choriomeningitis (LCM) +How to prevent Lymphocytic Choriomeningitis (LCM) ?,"LCMV infection can be prevented by avoiding contact with wild mice and taking precautions when handling pet rodents (i.e. mice, hamsters, or guinea pigs). + +Rarely, pet rodents may become infected with LCMV from wild rodents. Breeders, pet stores, and pet owners should take measures to prevent infestations of wild rodents. Pet rodents should not come into contact with wild rodents. If you have a pet rodent, wash your hands with soap and water (or waterless alcohol-based hand rubs when soap is not available and hands are not visibly soiled) after handling rodents or their cages and bedding. + +If you have a rodent infestation in and around your home, take the following precautions to reduce the risk of LCMV infection: + + - Seal up rodent entry holes or gaps with steel wool, lath metal, or caulk. + - Trap rats and mice by using an appropriate snap trap. + - Clean up rodent food sources and nesting sites and take precautions when cleaning rodent-infected areas: + + - Use cross-ventilation when entering a previously unventilated enclosed room or dwelling prior to cleanup. + - Put on rubber, latex, vinyl or nitrile gloves. + - Do not stir up dust by vacuuming, sweeping, or any other means. + - Thoroughly wet contaminated areas with a bleach solution or household disinfectant. + - Hypochlorite (bleach) solution: Mix 1 and 1/2 cups of household bleach in 1 gallon of water. + - Once everything is wet, take up contaminated materials with damp towel and then mop or sponge the area with bleach solution or household disinfectant. + - Spray dead rodents with disinfectant and then double-bag along with all cleaning materials and throw bag out in an appropriate waste disposal system. + - Remove the gloves and thoroughly wash your hands with soap and water (or waterless alcohol-based hand rubs when soap is not available and hands are not visibly soiled). + + + +The geographic distributions of the rodent hosts are widespread both domestically and abroad. However, infrequent recognition and diagnosis, and historic underreporting of LCM, have limited scientists' ability to estimate incidence rates and prevalence of disease among humans. Understanding the epidemiology of LCM and LCMV infections will help to further delineate risk factors for infection and develop effective preventive strategies. Increasing physician awareness will improve disease recognition and reporting, which may lead to better characterization of the natural history and the underlying immunopathological mechanisms of disease, and stimulate future therapeutic research and development.",CDC,Lymphocytic Choriomeningitis (LCM) +How to diagnose 2009 H1N1 Flu ?,"Content on this page was developed during the 2009-2010 H1N1 pandemic and has not been updated. + + - The H1N1 virus that caused that pandemic is now a regular human flu virus and continues to circulate seasonally worldwide. + - The English language content on this website is being archived for historic and reference purposes only. + + + General Information + + + Information for Health Care Professionals",CDC,2009 H1N1 Flu +What are the treatments for 2009 H1N1 Flu ?,"Content on this page was developed during the 2009-2010 H1N1 pandemic and has not been updated. + + - The H1N1 virus that caused that pandemic is now a regular human flu virus and continues to circulate seasonally worldwide. + - The English language content on this website is being archived for historic and reference purposes only. + + + + General Information + + +Quick Facts for the Public on Antiviral Treatments for 2009 H1N1 (NEW) Nov 23 + +2009 H1N1 and Seasonal Flu: What You Should Know About Flu Antiviral Drugs (PDF Version) Oct 13 + +Questions & Answers: Antiviral Drugs, 2009-2010 Flu Season + +Questions & Answers: Opening and Mixing Tamiflu® Capsules with Liquids if Child Cannot Swallow Capsules Nov 16 + + Podcast: Take Three Actions to Fight Flu + Information for Health Care Professionals + +Quick Facts for Clinicians on Antiviral Treatments for 2009 H1N1 Nov 4 + +Antiviral Recommendations Oct 16 + +Intravenous Peramivir Oct 24 + +CDC Podcast: Antiviral Drugs for the 2009-2010 Influenza Season Oct 19 + +Antiviral Safety Information Nov 3 + +Pediatric Supplement Recommendations Dec 1 + + Information for Pharmacists (including information related to supply of antiviral drugs) Nov 25 + + Emergency Use Authorization (EUA) of Medical Products and Devices (including antiviral drugs) + +Recommendations for Obstetric Health Care Providers Oct 28 + +(Video Blog) 2009 H1N1: Who Should Receive Antiviral Therapy? Dec 1 + +Frontline Questions and Expert Opinion Answers Dec 9",CDC,2009 H1N1 Flu +Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?,"Like all arenaviruses, Lujo virus has a rodent host as its reservoir. Humans can contract LUHF through contact with an infected rodent. Contact can be direct or through inhalation of aerosolized Lujo virus from the urine or feces of infected rodents. + +Person-to-person transmission of Lujo virus was observed in the small, nosocomial cluster of hemorrhagic disease which resulted in the discovery of the Lujo virus. + +Transmission of arenaviruses, and Lujo virus in particular, is most likely the result of direct contact with the body fluids of an infected person, in the absence of infection control precautions.",CDC,Lujo Hemorrhagic Fever (LUHF) +What are the symptoms of Lujo Hemorrhagic Fever (LUHF) ?,"The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain. + +The disease increases in severity, with: + + - a morbilliform rash of the face and trunk + - face and neck swelling + - pharyngitis (sore throat) + - diarrhea + + +Bleeding was not a prominent feature during the illness. + +In the fatal cases (4/5 patients), a transient improvement was followed by: + + - rapid deterioration with respiratory distress + - neurological signs and circulatory collapse + + +Death occurred 10 to 13 days after onset. + +Low blood platelets, low white blood cell count (at the onset, rising later on) and elevated liver function values were present in all patients. + +Since Arenaviruses may enter the fetus through infection of the mother, and anectodal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with Lujo infection in the mother.",CDC,Lujo Hemorrhagic Fever (LUHF) +Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?,"Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia. + Field workers + +Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. In addition to nosocomial infection in healthcare workers already described, laboratory infections have been frequently described with Arenaviruses and Lujo virus can certainly be transmitted to laboratory workers during manipulation of the virus, especially during experimental infections of rodents.",CDC,Lujo Hemorrhagic Fever (LUHF) +How to diagnose Lujo Hemorrhagic Fever (LUHF) ?,"During the acute febrile phase, Lujo virus was isolated from blood from days 2 to 13 after onset. Virus was also isolated from liver tissue obtained post-mortem. A subsequent complete genomic analysis of Lujo virus facilitated the development of specific molecular detection (RT-PCR) assays. + +Serologic diagnosis of Lujo hemorrhagic fever can be made by indirect immunofluorescent assay and ELISA. However, individuals from endemic areas displaying fever, rash, pharyngitis, accompanied by laboratory findings of low platelet counts and elevated liver enzymes, should be suspected of having a hemorrhagic fever virus infection. Clinical specimens should be tested using specific assays.",CDC,Lujo Hemorrhagic Fever (LUHF) +What are the treatments for Lujo Hemorrhagic Fever (LUHF) ?,"Supportive therapy is important in Lujo hemorrhagic fever. This includes: + + - maintenance of hydration + - management of shock + - sedation + - pain relief + - usual precautions for patients with bleeding disorders + - transfusions (when necessary) + + +Treatment of arenavirus hemorrhagic fevers with convalescent plasma therapy reduces mortality significantly and anectodal evidence from the only surviving Lujo patient shows that the antiviral drug ribavirin may hold promise in the treatment of LUHF. Ribavirin has been considered for preventing development of disease in people exposed to other arenaviruses. + Recovery + +The precise mortality of LUHF is unknown, but 4 of 5 described cases were fatal. + +Patients who have suffered from other arenaviruses may excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.",CDC,Lujo Hemorrhagic Fever (LUHF) +How to prevent Lujo Hemorrhagic Fever (LUHF) ?,"Although rodent control would be desirable, it will not be a successful strategy for preventing Lujo hemorrhagic fever cases caused by exposures outdoors. + +As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed LUHF cases (no infection occurred after their implementation in South Africa).",CDC,Lujo Hemorrhagic Fever (LUHF) +What is (are) Parasites - Toxoplasmosis (Toxoplasma infection) ?,"A single-celled parasite called Toxoplasma gondii causes a disease known as toxoplasmosis. While the parasite is found throughout the world, more than 60 million people in the United States may be infected with the Toxoplasma parasite. Of those who are infected, very few have symptoms because a healthy person’s immune system usually keeps the parasite from causing illness. However, pregnant women and individuals who have compromised immune systems should be cautious; for them, a Toxoplasma infection could cause serious health problems.",CDC,Parasites - Toxoplasmosis (Toxoplasma infection) +Who is at risk for Parasites - Toxoplasmosis (Toxoplasma infection)? ?,"Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii. In the United States it is estimated that 22.5% of the population 12 years and older have been infected with Toxoplasma. In various places throughout the world, it has been shown that up to 95% of some populations have been infected with Toxoplasma. Infection is often highest in areas of the world that have hot, humid climates and lower altitudes. + +Toxoplasmosis is not passed from person-to-person, except in instances of mother-to-child (congenital) transmission and blood transfusion or organ transplantation. People typically become infected by three principal routes of transmission. + + + + + + + + + Foodborne transmission + +The tissue form of the parasite (a microscopic cyst consisting of bradyzoites) can be transmitted to humans by food. People become infected by: + + - Eating undercooked, contaminated meat (especially pork, lamb, and venison) + - Accidental ingestion of undercooked, contaminated meat after handling it and not washing hands thoroughly (Toxoplasma cannot be absorbed through intact skin) + - Eating food that was contaminated by knives, utensils, cutting boards, or other foods that had contact with raw, contaminated meat + + + + Animal-to-human (zoonotic) transmission + +Cats play an important role in the spread of toxoplasmosis. They become infected by eating infected rodents, birds, or other small animals. The parasite is then passed in the cat's feces in an oocyst form, which is microscopic. + +Kittens and cats can shed millions of oocysts in their feces for as long as 3 weeks after infection. Mature cats are less likely to shed Toxoplasma if they have been previously infected. A Toxoplasma-infected cat that is shedding the parasite in its feces contaminates the litter box. If the cat is allowed outside, it can contaminate the soil or water in the environment as well. + + + + + +People can accidentally swallow the oocyst form of the parasite. People can be infected by: + + - Accidental ingestion of oocysts after cleaning a cat's litter box when the cat has shed Toxoplasma in its feces + - Accidental ingestion of oocysts after touching or ingesting anything that has come into contact with a cat's feces that contain Toxoplasma + - Accidental ingestion of oocysts in contaminated soil (e.g., not washing hands after gardening or eating unwashed fruits or vegetables from a garden) + - Drinking water contaminated with the Toxoplasma parasite + + + + Mother-to-child (congenital) transmission + +A woman who is newly infected with Toxoplasma during pregnancy can pass the infection to her unborn child (congenital infection). The woman may not have symptoms, but there can be severe consequences for the unborn child, such as diseases of the nervous system and eyes. + + + Rare instances of transmission + +Organ transplant recipients can become infected by receiving an organ from a Toxoplasma-positive donor. Rarely, people can also become infected by receiving infected blood via transfusion. Laboratory workers who handle infected blood can also acquire infection through accidental inoculation.",CDC,Parasites - Toxoplasmosis (Toxoplasma infection) +How to diagnose Parasites - Toxoplasmosis (Toxoplasma infection) ?,"The diagnosis of toxoplasmosis is typically made by serologic testing. A test that measures immunoglobulin G (IgG) is used to determine if a person has been infected. If it is necessary to try to estimate the time of infection, which is of particular importance for pregnant women, a test which measures immunoglobulin M (IgM) is also used along with other tests such as an avidity test. + +Diagnosis can be made by direct observation of the parasite in stained tissue sections, cerebrospinal fluid (CSF), or other biopsy material. These techniques are used less frequently because of the difficulty of obtaining these specimens. + +Parasites can also be isolated from blood or other body fluids (for example, CSF) but this process can be difficult and requires considerable time. + +Molecular techniques that can detect the parasite's DNA in the amniotic fluid can be useful in cases of possible mother-to-child (congenital) transmission. + +Ocular disease is diagnosed based on the appearance of the lesions in the eye, symptoms, course of disease, and often serologic testing.",CDC,Parasites - Toxoplasmosis (Toxoplasma infection) +What are the treatments for Parasites - Toxoplasmosis (Toxoplasma infection) ?,"Healthy people (nonpregnant) + +Most healthy people recover from toxoplasmosis without treatment. Persons who are ill can be treated with a combination of drugs such as pyrimethamine and sulfadiazine, plus folinic acid. + + + Pregnant women, newborns, and infants + +Pregnant women, newborns, and infants can be treated, although the parasite is not eliminated completely. The parasites can remain within tissue cells in a less active phase; their location makes it difficult for the medication to completely eliminate them. + + + Persons with ocular disease + +Persons with ocular toxoplasmosis are sometimes prescribed medicine to treat active disease by their ophthalmologist. Whether or not medication is recommended depends on the size of the eye lesion, the location, and the characteristics of the lesion (acute active, versus chronic not progressing). + + + Persons with compromised immune systems + +Persons with compromised immune systems need to be treated until they have improvement in their condition. For AIDS patients, continuation of medication for the rest of their lives may be necessary, or for as long as they are immunosuppressed. + +More on: Resources for Health Professionals: Treatment",CDC,Parasites - Toxoplasmosis (Toxoplasma infection) +How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ?,"People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons. + Reduce Risk from Food + +To prevent risk of toxoplasmosis and other infections from food: + + - Freeze meat for several days at sub-zero (0° F) temperatures before cooking to greatly reduce chance of infection. + - Peel or wash fruits and vegetables thoroughly before eating. + + + + - Wash cutting boards, dishes, counters, utensils, and hands with hot soapy water after contact with raw meat, poultry, seafood, or unwashed fruits or vegetables. + + +More on: Handwashing + +The U.S. Government and the meat industry continue their efforts to reduce T. gondii in meat. + Reduce Risk from the Environment + +To prevent risk of toxoplasmosis from the environment: + + - Avoid drinking untreated drinking water. + - Wear gloves when gardening and during any contact with soil or sand because it might be contaminated with cat feces that contain Toxoplasma. Wash hands with soap and warm water after gardening or contact with soil or sand. + - Teach children the importance of washing hands to prevent infection. + - Keep outdoor sandboxes covered. + + + + - Feed cats only canned or dried commercial food or well-cooked table food, not raw or undercooked meats. + - Change the litter box daily if you own a cat. The Toxoplasma parasite does not become infectious until 1 to 5 days after it is shed in a cat's feces. If you are pregnant or immunocompromised: + + - Avoid changing cat litter if possible. If no one else can perform the task, wear disposable gloves and wash your hands with soap and warm water afterwards. + - Keep cats indoors. + - Do not adopt or handle stray cats, especially kittens. Do not get a new cat while you are pregnant.",CDC,Parasites - Toxoplasmosis (Toxoplasma infection) +What is (are) Acinetobacter in Healthcare Settings ?,"Acinetobacter [asz−in−ée−toe–back−ter] is a group of bacteria commonly found in soil and water. While there are many types or “species” of Acinetobacter and all can cause human disease, Acinetobacter baumannii [asz−in−ée−toe–back−ter boe-maa-nee-ie] accounts for about 80% of reported infections. + +Outbreaks of Acinetobacter infections typically occur in intensive care units and healthcare settings housing very ill patients. Acinetobacter infections rarely occur outside of healthcare settings.",CDC,Acinetobacter in Healthcare Settings +What are the symptoms of Acinetobacter in Healthcare Settings ?,"Acinetobacter causes a variety of diseases, ranging from pneumonia to serious blood or wound infections, and the symptoms vary depending on the disease. Acinetobacter may also “colonize” or live in a patient without causing infection or symptoms, especially in tracheostomy sites or open wounds.",CDC,Acinetobacter in Healthcare Settings +Who is at risk for Acinetobacter in Healthcare Settings? ?,"Acinetobacter poses very little risk to healthy people. However, people who have weakened immune systems, chronic lung disease, or diabetes may be more susceptible to infections with Acinetobacter. Hospitalized patients, especially very ill patients on a ventilator, those with a prolonged hospital stay, those who have open wounds, or any person with invasive devices like urinary catheters are also at greater risk for Acinetobacter infection. Acinetobacter can be spread to susceptible persons by person-to-person contact or contact with contaminated surfaces.",CDC,Acinetobacter in Healthcare Settings +How to prevent Acinetobacter in Healthcare Settings ?,"Acinetobacter can live on the skin and may survive in the environment for several days. Careful attention to infection control procedures, such as hand hygiene and environmental cleaning, can reduce the risk of transmission.",CDC,Acinetobacter in Healthcare Settings +What are the treatments for Acinetobacter in Healthcare Settings ?,Acinetobacter is often resistant to many commonly prescribed antibiotics. Decisions on treatment of infections with Acinetobacter should be made on a case-by-case basis by a healthcare provider. Acinetobacter infection typically occurs in ill patients and can either cause or contribute to death in these patients.,CDC,Acinetobacter in Healthcare Settings +Who is at risk for Hendra Virus Disease (HeV)? ?,"Transmission of Hendra virus to humans can occur after exposure to body fluids and tissues or excretions of horses infected with Hendra virus. + +Horses may be infected after exposure to virus in the urine of infected flying foxes. + +To date, no human-to-human transmission has been documented.",CDC,Hendra Virus Disease (HeV) +What are the symptoms of Hendra Virus Disease (HeV) ?,"After an incubation of 9-16 days, infection with Hendra virus can lead to respiratory illness with severe flu-like signs and symptoms. In some cases, illness may progress to encephalitis. + +Although infection with Hendra virus is rare, the case fatality is high: 4/7 (57%).",CDC,Hendra Virus Disease (HeV) +Who is at risk for Hendra Virus Disease (HeV)? ?,"Australia’s “Flying fox” bats (genus Pteropus) are the natural reservoir of Hendra virus. Serologic evidence for HeV infection have been found in all fours species of Australian flying foxes, but spillover of the virus in horses is limited to coastal and forested regions in Australia (Queensland and New South Wales states) (see Henipavirus Distribution Map). + +People at highest risk are those living within the distribution of the flying foxes and with occupational or recreational exposure to horses that have had potential contact with flying foxes in Australia.",CDC,Hendra Virus Disease (HeV) +How to diagnose Hendra Virus Disease (HeV) ?,"Laboratory tests that are used to diagnose Hendra virus (HV) and Nipah virus (NV) include detection of antibody by ELISA (IgG and IgM), real time polymerase chain reaction (RT-PCR), and virus isolation attempts. In most countries, handling Hendra virus needs to be done in high containment laboratories. Laboratory diagnosis of a patient with a clinical history of HV or NV can be made during the acute and convalescent phase of the disease by using a combination of tests including detection of antibody in the serum or the cerebrospinal fluid (CSF), viral RNA detection (RT-PCR) in the serum, CSF, or throat swabs, and virus isolation from the CSF or throat swabs.",CDC,Hendra Virus Disease (HeV) +What are the treatments for Hendra Virus Disease (HeV) ?,"The drug ribavirin has been shown to be effective against the viruses in vitro, but the clinical usefulness of this drug is uncertain. + +A post-exposure therapy with a Nipah/Hendra neutralizing antibody, efficacious in animal models is in human preclinical development stages in Australia.",CDC,Hendra Virus Disease (HeV) +How to prevent Hendra Virus Disease (HeV) ?,"The occurrence of the disease in humans has been associated only with infection of an intermediate species such as horses. Early recognition of the disease in the intermediate animal host is probably the most crucial means of limiting future human cases. + +Hendra virus infection can be prevented by avoiding horses that are ill or may be infected with HeV and using appropriate personal protective equipment when contact is necessary, as in veterinary procedures. + +A commercial vaccine has been recently licensed in Australia for horses and could be beneficial for other animal species and eventually humans.",CDC,Hendra Virus Disease (HeV) +How to prevent Varicella (Chickenpox) Vaccination ?,"At a Glance + +Vaccine-preventable disease levels are at or near record lows. Even though most infants and toddlers have received all recommended vaccines by age 2, many under-immunized children remain, leaving the potential for outbreaks of disease. Many adolescents and adults are under-immunized as well, missing opportunities to protect themselves against diseases such as Hepatitis B, influenza, and pneumococcal disease. CDC works closely with public health agencies and private partners to improve and sustain immunization coverage and to monitor the safety of vaccines so that this public health success story can be maintained and expanded in the century to come. + + Vaccine Shortages & Delays + + + + + + + + + +The latest national information about vaccine supplies and guidance for healthcare providers who are facing vaccine shortages or delays + + + + + + + + + + Potential New Vaccines + + + + + + + + + +Resources for finding information on potential vaccines, research and development status, licensure status, etc. + + + + + + + + + + Vaccines: The Basics + + + + + + + + + +Without vaccines, epidemics of many preventable diseases could return, resulting in increased – and unnecessary – illness, disability, and death. + + + + + + + + + + FAQ about Vaccines & Diseases they Prevent + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more + + + + This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.",CDC,Varicella (Chickenpox) Vaccination +what are the signs and symptoms of rabies?,"The first symptoms of rabies may be very similar to those of the flu including general weakness or discomfort, fever, or headache. These symptoms may last for days. + +There may be also discomfort or a prickling or itching sensation at the site of bite, progressing within days to symptoms of cerebral dysfunction, anxiety, confusion, agitation. As the disease progresses, the person may experience delirium, abnormal behavior, hallucinations, and insomnia. + +The acute period of disease typically ends after 2 to 10 days. Once clinical signs of rabies appear, the disease is nearly always fatal, and treatment is typically supportive. + +Disease prevention includes administration of both passive antibody, through an injection of human immune globulin and a round of injections with rabies vaccine. + +Once a person begins to exhibit signs of the disease, survival is rare. To date less than 10 documented cases of human survival from clinical rabies have been reported and only two have not had a history of pre- or postexposure prophylaxis.",CDC,Rabies +what is the risk for my pet for Rabies ?,"Any animal bitten or scratched by either a wild, carnivorous mammal or a bat that is not available for testing should be regarded as having been exposed to rabies. + +Unvaccinated dogs, cats, and ferrets exposed to a rabid animal should be euthanized immediately. If the owner is unwilling to have this done, the animal should be placed in strict isolation for 6 months and vaccinated 1 month before being released. + +Animals with expired vaccinations need to be evaluated on a case-by-case basis. Dogs and cats that are currently vaccinated are kept under observation for 45 days. + +Small mammals such as squirrels, rats, mice, hamsters, guinea pigs, gerbils, chipmunks, rabbits, and hares are almost never found to be infected with rabies and have not been known to cause rabies among humans in the United States. Bites by these animals are usually not considered a risk of rabies unless the animal was sick or behaving in any unusual manner and rabies is widespread in your area. + +However, from 1985 through 1994, woodchucks accounted for 86% of the 368 cases of rabies among rodents reported to CDC. Woodchucks or groundhogs (Marmota monax) are the only rodents that may be frequently submitted to state health department because of a suspicion of rabies. In all cases involving rodents, the state or local health department should be consulted before a decision is made to initiate postexposure prophylaxis (PEP). + Is there rabies in my area? + +Each state collects specific information about rabies, and is the best source for information on rabies in your area. In addition, the CDC publishes rabies surveillance data every year for the United States. The report, entitled Rabies Surveillance in the United States, contains information about the number of cases of rabies reported to CDC during the year, the animals reported rabid, maps showing where cases were reported for wild and domestic animals, and distribution maps showing outbreaks of rabies associated with specific animals.",CDC,Rabies +how is rabies diagnosed?,"In animals, rabies is diagnosed using the direct fluorescent antibody (DFA) test, which looks for the presence of rabies virus antigens in brain tissue. In humans, several tests are required. + +Rapid and accurate laboratory diagnosis of rabies in humans and other animals is essential for timely administration of postexposure prophylaxis. Within a few hours, a diagnostic laboratory can determine whether or not an animal is rabid and inform the responsible medical personnel. The laboratory results may save a patient from unnecessary physical and psychological trauma, and financial burdens, if the animal is not rabid. + +In addition, laboratory identification of positive rabies cases may aid in defining current epidemiologic patterns of disease and provide appropriate information for the development of rabies control programs. + +The nature of rabies disease dictates that laboratory tests be standardized, rapid, sensitive, specific, economical, and reliable.",CDC,Rabies +What is (are) Pneumonia ?,"Pneumonia (nu-MO-ne-ah) is an infection in one or both of the lungs. Many germssuch as bacteria, viruses, and fungican cause pneumonia. + +The infection inflames your lungs' air sacs, which are called alveoli (al-VEE-uhl-eye). The air sacs may fill up with fluid or pus, causing symptoms such as a cough with phlegm (a slimy substance), fever, chills, and trouble breathing. + +Overview + +Pneumonia and its symptoms can vary from mild to severe. Many factors affect how serious pneumonia is, such as the type of germ causing the infection and your age and overall health. + +Pneumonia tends to be more serious for: + +Infants and young children. + +Older adults (people 65 years or older). + +People who have other health problems, such as heart failure, diabetes, or COPD (chronic obstructive pulmonary disease). + +People who have weak immune systems as a result of diseases or other factors. Examples of these diseases and factors include HIV/AIDS, chemotherapy (a treatment for cancer), and an organ transplant or blood and marrow stem cell transplant. + +Outlook + +Pneumonia is common in the United States. Treatment for pneumonia depends on its cause, how severe your symptoms are, and your age and overall health. Many people can be treated at home, often with oral antibiotics. + +Children usually start to feel better in 1 to 2 days. For adults, it usually takes 2 to 3 days. Anyone who has worsening symptoms should see a doctor. + +People who have severe symptoms or underlying health problems may need treatment in a hospital. It may take 3 weeks or more before they can go back to their normal routines. + +Fatigue (tiredness) from pneumonia can last for a month or more.",NHLBI,Pneumonia +What causes Pneumonia ?,"Many germs can cause pneumonia. Examples include different kinds of bacteria, viruses, and, less often, fungi. + +Most of the time, the body filters germs out of the air that we breathe to protect the lungs from infection. Your immune system, the shape of your nose and throat, your ability to cough, and fine, hair-like structures called cilia (SIL-e-ah) help stop the germs from reaching your lungs. (For more information, go to the Diseases and Conditions Index How the Lungs Work article.) + +Sometimes, though, germs manage to enter the lungs and cause infections. This is more likely to occur if: + +Your immune system is weak + +A germ is very strong + +Your body fails to filter germs out of the air that you breathe + +For example, if you can't cough because you've had a stroke or are sedated, germs may remain in your airways. (""Sedated"" means you're given medicine to make you sleepy.) + +When germs reach your lungs, your immune system goes into action. It sends many kinds of cells to attack the germs. These cells cause the alveoli (air sacs) to become red and inflamed and to fill up with fluid and pus. This causes the symptoms of pneumonia. + +Germs That Can Cause Pneumonia + +Bacteria + +Bacteria are the most common cause of pneumonia in adults. Some people, especially the elderly and those who are disabled, may get bacterial pneumonia after having the flu or even a common cold. + +Many types of bacteria can cause pneumonia. Bacterial pneumonia can occur on its own or develop after you've had a cold or the flu. This type of pneumonia often affects one lobe, or area, of a lung. When this happens, the condition is called lobar pneumonia. + +The most common cause of pneumonia in the United States is the bacterium Streptococcus (strep-to-KOK-us) pneumoniae, or pneumococcus (nu-mo-KOK-us). + +Lobar Pneumonia + + + +Another type of bacterial pneumonia is called atypical pneumonia. Atypical pneumonia includes: + +Legionella pneumophila. This type of pneumonia sometimes is called Legionnaire's disease, and it has caused serious outbreaks. Outbreaks have been linked to exposure to cooling towers, whirlpool spas, and decorative fountains. + +Mycoplasma pneumonia. This is a common type of pneumonia that usually affects people younger than 40 years old. People who live or work in crowded places like schools, homeless shelters, and prisons are at higher risk for this type of pneumonia. It's usually mild and responds well to treatment with antibiotics. However, mycoplasma pneumonia can be very serious. It may be associated with a skin rash and hemolysis (the breakdown of red blood cells). + +Chlamydophila pneumoniae. This type of pneumonia can occur all year and often is mild. The infection is most common in people 65 to 79 years old. + +Viruses + +Respiratory viruses cause up to one-third of the pneumonia cases in the United States each year. These viruses are the most common cause of pneumonia in children younger than 5 years old. + +Most cases of viral pneumonia are mild. They get better in about 1 to 3 weeks without treatment. Some cases are more serious and may require treatment in a hospital. + +If you have viral pneumonia, you run the risk of getting bacterial pneumonia as well. + +The flu virus is the most common cause of viral pneumonia in adults. Other viruses that cause pneumonia include respiratory syncytial virus, rhinovirus, herpes simplex virus, severe acute respiratory syndrome (SARS), and more. + +Fungi + +Three types of fungi in the soil in some parts of the United States can cause pneumonia. These fungi are: + +Coccidioidomycosis (kok-sid-e-OY-do-mi-KO-sis). This fungus is found in Southern California and the desert Southwest. + +Histoplasmosis (HIS-to-plaz-MO-sis). This fungus is found in the Ohio and Mississippi River Valleys. + +Cryptococcus (krip-to-KOK-us). This fungus is found throughout the United States in bird droppings and soil contaminated with bird droppings. + +Most people exposed to these fungi don't get sick, but some do and require treatment. + +Serious fungal infections are most common in people who have weak immune systems due to the long-term use of medicines to suppress their immune systems or having HIV/AIDS. + +Pneumocystis jiroveci (nu-mo-SIS-tis ye-RO-VECH-e), formerly Pneumocystis carinii, sometimes is considered a fungal pneumonia. However, it's not treated with the usual antifungal medicines. This type of infection is most common in people who: + +Have HIV/AIDS or cancer + +Have had an organ transplant and/or blood and marrow stem cell transplant + +Take medicines that affect their immune systems + +Other kinds of fungal infections also can lead to pneumonia.",NHLBI,Pneumonia +Who is at risk for Pneumonia? ?,"Pneumonia can affect people of all ages. However, two age groups are at greater risk of developing pneumonia: + +Infants who are 2 years old or younger (because their immune systems are still developing during the first few years of life) + +People who are 65 years old or older + +Other conditions and factors also raise your risk for pneumonia. You're more likely to get pneumonia if you have a lung disease or other serious disease. Examples include cystic fibrosis, asthma, COPD (chronic obstructive pulmonary disease), bronchiectasis, diabetes, heart failure, and sickle cell anemia. + +You're at greater risk for pneumonia if you're in a hospital intensive-care unit, especially if you're on a ventilator (a machine that helps you breathe). + +Having a weak or suppressed immune system also raises your risk for pneumonia. A weak immune system may be the result of a disease such as HIV/AIDS. A suppressed immune system may be due to an organ transplant or blood and marrow stem cell transplant, chemotherapy (a treatment for cancer), or long-term steroid use. + +Your risk for pneumonia also increases if you have trouble coughing because of a stroke or problems swallowing. You're also at higher risk if you can't move around much or are sedated (given medicine to make you relaxed or sleepy). + +Smoking cigarettes, abusing alcohol, or being undernourished also raises your risk for pneumonia. Your risk also goes up if you've recently had a cold or the flu, or if you're exposed to certain chemicals, pollutants, or toxic fumes.",NHLBI,Pneumonia +What are the symptoms of Pneumonia ?,"The signs and symptoms of pneumonia vary from mild to severe. Many factors affect how serious pneumonia is, including the type of germ causing the infection and your age and overall health. (For more information, go to ""Who Is at Risk for Pneumonia?"") + +See your doctor promptly if you: + +Have a high fever + +Have shaking chills + +Have a cough with phlegm (a slimy substance), which doesn't improve or worsens + +Develop shortness of breath with normal daily activities + +Have chest pain when you breathe or cough + +Feel suddenly worse after a cold or the flu + +People who have pneumonia may have other symptoms, including nausea (feeling sick to the stomach), vomiting, and diarrhea. + +Symptoms may vary in certain populations. Newborns and infants may not show any signs of the infection. Or, they may vomit, have a fever and cough, or appear restless, sick, or tired and without energy. + +Older adults and people who have serious illnesses or weak immune systems may have fewer and milder symptoms. They may even have a lower than normal temperature. If they already have a lung disease, it may get worse. Older adults who have pneumonia sometimes have sudden changes in mental awareness. + +Complications of Pneumonia + +Often, people who have pneumonia can be successfully treated and not have complications. But some people, especially those in high-risk groups, may have complications such as: + +Bacteremia (bak-ter-E-me-ah). This serious complication occurs if the infection moves into your bloodstream. From there, it can quickly spread to other organs, including your brain. + +Lung abscesses. An abscess occurs if pus forms in a cavity in the lung. An abscess usually is treated with antibiotics. Sometimes surgery or drainage with a needle is needed to remove the pus. + +Pleural effusion. Pneumonia may cause fluid to build up in the pleural space. This is a very thin space between two layers of tissue that line the lungs and the chest cavity. Pneumonia can cause the fluid to become infecteda condition called empyema (em-pi-E-ma). If this happens, you may need to have the fluid drained through a chest tube or removed with surgery.",NHLBI,Pneumonia +How to diagnose Pneumonia ?,"Pneumonia can be hard to diagnose because it may seem like a cold or the flu. You may not realize it's more serious until it lasts longer than these other conditions. + +Your doctor will diagnose pneumonia based on your medical history, a physical exam, and test results. + +Medical History + +Your doctor will ask about your signs and symptoms and how and when they began. To find out what type of germ is causing the pneumonia, he or she also may ask about: + +Any recent traveling you've done + +Your hobbies + +Your exposure to animals + +Your exposure to sick people at home, school, or work + +Your past and current medical conditions, and whether any have gotten worse recently + +Any medicines you take + +Whether you smoke + +Whether you've had flu or pneumonia vaccinations + +Physical Exam + +Your doctor will listen to your lungs with a stethoscope. If you have pneumonia, your lungs may make crackling, bubbling, and rumbling sounds when you inhale. Your doctor also may hear wheezing. + +Your doctor may find it hard to hear sounds of breathing in some areas of your chest. + +Diagnostic Tests + +If your doctor thinks you have pneumonia, he or she may recommend one or more of the following tests. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. + +A chest x ray is the best test for diagnosing pneumonia. However, this test won't tell your doctor what kind of germ is causing the pneumonia. + +Blood Tests + +Blood tests involve taking a sample of blood from a vein in your body. A complete blood count (CBC) measures many parts of your blood, including the number of white blood cells in the blood sample. The number of white blood cells can show whether you have a bacterial infection. + +Your doctor also may recommend a blood culture to find out whether the infection has spread to your bloodstream. This test is used to detect germs in the bloodstream. A blood culture may show which germ caused the infection. If so, your doctor can decide how to treat the infection. + +Other Tests + +Your doctor may recommend other tests if you're in the hospital, have serious symptoms, are older, or have other health problems. + +Sputum test. Your doctor may look at a sample of sputum (spit) collected from you after a deep cough. This may help your doctor find out what germ is causing your pneumonia. Then, he or she can plan treatment. + +Chest computed tomography (CT) scan. A chest CT scan is a painless test that creates precise pictures of the structures in your chest, such as your lungs. A chest CT scan is a type of x ray, but its pictures show more detail than those of a standard chest xray. + +Pleural fluid culture. For this test, a fluid sample is taken from the pleural space (a thin space between two layers of tissue that line the lungs and chest cavity). Doctors use a procedure called thoracentesis (THOR-ah-sen-TE-sis) to collect the fluid sample. The fluid is studied for germs that may cause pneumonia. + +Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. Pneumonia can keep your lungs from moving enough oxygen into your bloodstream. + +If you're very sick, your doctor may need to measure the level of oxygen in your blood using a blood sample. The sample is taken from an artery, usually in your wrist. This test is called an arterial blood gas test. + +Bronchoscopy. Bronchoscopy (bron-KOS-ko-pee) is a procedure used to look inside the lungs' airways. If you're in the hospital and treatment with antibiotics isn't working well, your doctor may use this procedure. + +Your doctor passes a thin, flexible tube through your nose or mouth, down your throat, and into the airways. The tube has a light and small camera that allow your doctor to see your windpipe and airways and take pictures. + +Your doctor can see whether something is blocking your airways or whether another factor is contributing to your pneumonia.",NHLBI,Pneumonia +What are the treatments for Pneumonia ?,"Treatment for pneumonia depends on the type of pneumonia you have and how severe it is. Most people who have community-acquired pneumoniathe most common type of pneumoniaare treated at home. + +The goals of treatment are to cure the infection and prevent complications. + +General Treatment + +If you have pneumonia, follow your treatment plan, take all medicines as prescribed, and get ongoing medical care. Ask your doctor when you should schedule followup care. Your doctor may want you to have a chest x ray to make sure the pneumonia is gone. + +Although you may start feeling better after a few days or weeks, fatigue (tiredness) can persist for up to a month or more. People who are treated in the hospital may need at least 3 weeks before they can go back to their normal routines. + +Bacterial Pneumonia + +Bacterial pneumonia is treated with medicines called antibiotics. You should take antibiotics as your doctor prescribes. You may start to feel better before you finish the medicine, but you should continue taking it as prescribed. If you stop too soon, the pneumonia may come back. + +Most people begin to improve after 1 to 3 days of antibiotic treatment. This means that they should feel better and have fewer symptoms, such as cough and fever. + +Viral Pneumonia + +Antibiotics don't work when the cause of pneumonia is a virus. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. + +Viral pneumonia usually improves in 1 to 3 weeks. + +Treating Severe Symptoms + +You may need to be treated in a hospital if: + +Your symptoms are severe + +You're at risk for complications because of other health problems + +If the level of oxygen in your bloodstream is low, you may receive oxygen therapy. If you have bacterial pneumonia, your doctor may give you antibiotics through an intravenous (IV) line inserted into a vein.",NHLBI,Pneumonia +How to prevent Pneumonia ?,"Pneumonia can be very serious and even life threatening. When possible, take steps to prevent the infection, especially if you're in a high-risk group. + +Vaccines + +Vaccines are available to prevent pneumococcal pneumonia and the flu. Vaccines can't prevent all cases of infection. However, compared to people who don't get vaccinated, those who do and still get pneumonia tend to have: + +Milder cases of the infection + +Pneumonia that doesn't last as long + +Fewer serious complications + +Pneumococcal Pneumonia Vaccine + +A vaccine is available to prevent pneumococcal pneumonia. In most adults, one shot is good for at least 5 years of protection. This vaccine often is recommended for: + +People who are 65 years old or older. + +People who have chronic (ongoing) diseases, serious long-term health problems, or weak immune systems. For example, this may include people who have cancer, HIV/AIDS, asthma, or damaged or removed spleens. + +People who smoke. + +Children who are younger than 5 years old. + +Children who are 518 years of age with certain medical conditions, such as heart or lung diseases or cancer. For more information, talk with your child's doctor. + +For more information about the pneumococcal pneumonia vaccine, go to the Centers for Disease Control and Prevention's (CDC's) Vaccines and Preventable Diseases: Pneumococcal Vaccination Web page. + +Influenza Vaccine + +The vaccine that helps prevent the flu is good for 1 year. It's usually given in October or November, before peak flu season. + +Because many people get pneumonia after having the flu, this vaccine also helps prevent pneumonia. + +For more information about the influenza vaccine, go to the CDC's Vaccines and Preventable Diseases: Seasonal Influenza (Flu) Vaccination Web page. + +Hib Vaccine + +Haemophilus influenzae type b (Hib) is a type of bacteria that can cause pneumonia and meningitis (men-in-JI-tis). (Meningitis is an infection of the covering of the brain and spinal cord.) The Hib vaccine is given to children to help prevent these infections. + +The vaccine is recommended for all children in the United States who are younger than 5 years old. The vaccine often is given to infants starting at 2 months of age. + +For more information about the Hib vaccine, go to the CDC's Vaccines and Preventable Diseases: Hib Vaccination Web page. + +Other Ways To Help Prevent Pneumonia + +You also can take the following steps to help prevent pneumonia: + +Wash your hands with soap and water or alcohol-based rubs to kill germs. + +Don't smoke. Smoking damages your lungs' ability to filter out and defend against germs. For information about how to quit smoking, go to the Health Topics Smoking and Your Heart article. Although this resource focuses on heart health, it includes general information about how to quit smoking. + +Keep your immune system strong. Get plenty of rest and physical activity and follow a healthy diet. + +If you have pneumonia, limit contact with family and friends. Cover your nose and mouth while coughing or sneezing, and get rid of used tissues right away. These actions help keep the infection from spreading.",NHLBI,Pneumonia +What is (are) Immune Thrombocytopenia ?,"Immune thrombocytopenia (THROM-bo-si-toe-PE-ne-ah), or ITP, is a bleeding disorder. In ITP, the blood doesn't clot as it should. This is due to a low number of blood cell fragments called platelets (PLATE-lets) or thrombocytes (THROM-bo-sites). + +Platelets are made in your bone marrow along with other kinds of blood cells. They stick together (clot) to seal small cuts or breaks on blood vessel walls and stop bleeding. + +Overview + +Without enough platelets, bleeding can occur inside the body (internal bleeding) or underneath or from the skin (external bleeding). + +People who have ITP often have purple bruises called purpura (PURR-purr-ah). These bruises appear on the skin or mucous membranes (for example, in the mouth). Bleeding from small blood vessels under the skin causes purpura. + +People who have ITP also may have bleeding that causes tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash. + +Petechiae and Purpura + + + +People who have ITP also may have nosebleeds, bleeding from the gums during dental work, or other bleeding that's hard to stop. Women who have ITP may have menstrual bleeding that's heavier than normal. + +A lot of bleeding can cause hematomas (he-mah-TO-mas). A hematoma is a collection of clotted or partially clotted blood under the skin. It looks or feels like a lump. + +Bleeding in the brain as a result of ITP is very rare, but can be life threatening if it occurs. + +In most cases, an autoimmune response is thought to cause ITP. Normally, your immune system helps your body fight off infections and diseases. But if you have ITP, your immune system attacks and destroys its own platelets. The reason why this happens isn't known. + +ITP can't be passed from one person to another. + +Types of Immune Thrombocytopenia + +The two types of ITP are acute (temporary or short-term) and chronic (long-lasting). + +Acute ITP generally lasts less than 6 months. It mainly occurs in childrenboth boys and girlsand is the most common type of ITP. Acute ITP often occurs after a viral infection. + +Chronic ITP lasts 6 months or longer and mostly affects adults. However, some teenagers and children do get this type of ITP. Chronic ITP affects women two to three times more often than men. + +Treatment depends on the severity of bleeding and the platelet count. In mild cases, treatment may not be needed. + +Outlook + +For most children and adults, ITP isn't a serious or life-threatening condition. + +Acute ITP in children often goes away on its own within a few weeks or months and doesn't return. In 80 percent of children who have ITP, the platelet count returns to normal within 6 to 12 months. Treatment may not be needed. + +For a small number of children, ITP doesn't go away on its own and may require further medical or surgical treatment. + +Chronic ITP varies from person to person and can last for many years. Even people who have severe forms of chronic ITP can live for decades. Most people who have chronic ITP can stop treatment at some point and maintain a safe platelet count.",NHLBI,Immune Thrombocytopenia +What causes Immune Thrombocytopenia ?,"In most cases, an autoimmune response is thought to cause immune thrombocytopenia (ITP). + +Normally, your immune system helps your body fight off infections and diseases. In ITP, however, your immune system attacks and destroys your body's platelets by mistake. Why this happens isn't known. + +In some people, ITP may be linked to viral or bacterial infections, such as HIV, hepatitis C, or H. pylori. + +Children who have acute (short-term) ITP often have had recent viral infections. These infections may ""trigger"" or set off the immune reaction that leads to ITP.",NHLBI,Immune Thrombocytopenia +Who is at risk for Immune Thrombocytopenia? ?,"Immune thrombocytopenia (ITP) is a fairly common blood disorder. Both children and adults can develop ITP. + +Children usually have the acute (short-term) type of ITP. Acute ITP often develops after a viral infection. + +Adults tend to have the chronic (long-lasting) type of ITP. Women are two to three times more likely than men to develop chronic ITP. + +The number of cases of ITP is rising because routine blood tests that can detect a low platelet count are being done more often. + +ITP can't be passed from one person to another.",NHLBI,Immune Thrombocytopenia +What are the symptoms of Immune Thrombocytopenia ?,"Immune thrombocytopenia (ITP) may not cause any signs or symptoms. However, ITP can cause bleeding inside the body (internal bleeding) or underneath or from the skin (external bleeding). Signs of bleeding may include: + +Bruising or purplish areas on the skin or mucous membranes (such as in the mouth). These bruises are called purpura. They're caused by bleeding under the skin, and they may occur for no known reason. + +Pinpoint red spots on the skin called petechiae. These spots often are found in groups and may look like a rash. Bleeding under the skin causes petechiae. + +A collection of clotted or partially clotted blood under the skin that looks or feels like a lump. This is called a hematoma. + +Nosebleeds or bleeding from the gums (for example, during dental work). + +Blood in the urine or stool (bowel movement). + +Any kind of bleeding that's hard to stop could be a sign of ITP. This includes menstrual bleeding that's heavier than normal. Bleeding in the brain is rare, and its symptoms may vary. + +A low platelet count doesn't directly cause pain, problems concentrating, or other symptoms. However, a low platelet count might be associated with fatigue (tiredness).",NHLBI,Immune Thrombocytopenia +How to diagnose Immune Thrombocytopenia ?,"Your doctor will diagnose immune thrombocytopenia (ITP) based on your medical history, a physical exam, and test results. + +Your doctor will want to make sure that your low platelet count isn't due to another condition (such as an infection) or medicines you're taking (such as chemotherapy medicines or aspirin). + +Medical History + +Your doctor may ask about: + +Your signs and symptoms of bleeding and any other signs or symptoms you're having + +Whether you have illnesses that could lower your platelet count or cause bleeding + +Medicines or any over-the-counter supplements or remedies you take that could cause bleeding or lower your platelet count + +Physical Exam + +During a physical exam, your doctor will look for signs of bleeding and infection. For example, your doctor may look for purplish areas on the skin or mucous membranes and pinpoint red spots on the skin. These are signs of bleeding under the skin. + +Diagnostic Tests + +You'll likely have blood tests to check your platelet count. These tests usually include: + +A complete blood count. This test checks the number of red blood cells, white blood cells, and platelets in your blood. In ITP, the red and white blood cell counts are normal, but the platelet count is low. + +A blood smear. For this test, some of your blood is put on a slide. A microscope is used to look at your platelets and other blood cells. + +You also may have a blood test to check for the antibodies (proteins) that attack platelets. + +If blood tests show that your platelet count is low, your doctor may recommend more tests to confirm a diagnosis of ITP. For example, bone marrow tests can show whether your bone marrow is making enough platelets. + +If you're at risk for HIV, hepatitis C, or H. pylori, your doctor may screen you for these infections, which might be linked to ITP. + +Some people who have mild ITP have few or no signs of bleeding. They may be diagnosed only if a blood test done for another reason shows that they have low platelet counts.",NHLBI,Immune Thrombocytopenia +What are the treatments for Immune Thrombocytopenia ?,"Treatment for immune thrombocytopenia (ITP) is based on how much and how often you're bleeding and your platelet count. + +Adults who have mild ITP may not need any treatment, other than watching their symptoms and platelet counts. Adults who have ITP with very low platelet counts or bleeding problems often are treated. + +The acute (short-term) type of ITP that occurs in children often goes away within a few weeks or months. Children who have bleeding symptoms, other than merely bruising (purpura), usually are treated. + +Children who have mild ITP may not need treatment other than monitoring and followup to make sure their platelet counts return to normal. + +Medicines + +Medicines often are used as the first course of treatment for both children and adults. + +Corticosteroids (cor-ti-co-STEER-roids), such as prednisone, are commonly used to treat ITP. These medicines, called steroids for short, help increase your platelet count. However, steroids have many side effects. Some people relapse (get worse) when treatment ends. + +The steroids used to treat ITP are different from the illegal steroids that some athletes take to enhance performance. Corticosteroids aren't habit-forming, even if you take them for many years. + +Other medicines also are used to raise the platelet count. Some are given through a needle inserted into a vein. These medicines include rituximab, immune globulin, and anti-Rh (D) immunoglobulin. + +Medicines also may be used with a procedure to remove the spleen called splenectomy (splee-NECK-tuh-mee). + +If medicines or splenectomy don't help, two newer medicineseltrombopag and romiplostimcan be used to treat ITP. + +Removal of the Spleen (Splenectomy) + +If needed, doctors can surgically remove the spleen. This organ is located in the upper left abdomen. The spleen is about the size of a golf ball in children and a baseball in adults. + +The spleen makes antibodies (proteins) that help fight infections. In ITP, these antibodies destroy platelets by mistake. + +If ITP hasn't responded to medicines, removing the spleen will reduce the destruction of platelets. However, it also may raise your risk for infections. Before you have the surgery, your doctor may give you vaccines to help prevent infections. + +If your spleen is removed, your doctor will explain what steps you can take to help avoid infections and what symptoms to watch for. + +Other Treatments + +Platelet Transfusions + +Some people who have ITP with severe bleeding may need to have platelet transfusions and be hospitalized. Some people will need platelet transfusions before having surgery. + +For a platelet transfusion, donor platelets from a blood bank are injected into the recipient's bloodstream. This increases the platelet count for a short time. + +For more information about platelet transfusions, go to the Health Topics Blood Transfusion article. + +Treating Infections + +Some infections can briefly lower your platelet count. Treating the infection may help increase your platelet count and reduce bleeding problems. + +Stopping Medicines + +Some medicines can lower your platelet count or cause bleeding. Stopping the medicine can sometimes help raise your platelet count or prevent bleeding. + +For example, aspirin and ibuprofen are common medicines that increase the risk of bleeding. If you have ITP, your doctor may suggest that you avoid these medicines.",NHLBI,Immune Thrombocytopenia +How to prevent Immune Thrombocytopenia ?,"You can't prevent immune thrombocytopenia (ITP), but you can prevent its complications. + +Talk with your doctor about which medicines are safe for you. Your doctor may advise you to avoid medicines that can affect your platelets and increase your risk of bleeding. Examples of such medicines include aspirin and ibuprofen. + +Protect yourself from injuries that can cause bruising or bleeding. + +Seek treatment right away if you develop any infections. Report any symptoms of infection, such as a fever, to your doctor. This is very important for people who have ITP and have had their spleens removed.",NHLBI,Immune Thrombocytopenia +What is (are) Pernicious Anemia ?,"Pernicious anemia (per-NISH-us uh-NEE-me-uh) is a condition in which the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. + +Vitamin B12 is a nutrient found in some foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working properly. + +People who have pernicious anemia can't absorb enough vitamin B12 from food. This is because they lack intrinsic (in-TRIN-sik) factor, a protein made in the stomach. A lack of this protein leads to vitamin B12 deficiency. + +Other conditions and factors also can cause vitamin B12 deficiency. Examples include infections, surgery, medicines, and diet. Technically, the term ""pernicious anemia"" refers to vitamin B12 deficiency due to a lack of intrinsic factor. Often though, vitamin B12 deficiency due to other causes also is called pernicious anemia. + +This article discusses pernicious anemia due to a lack of intrinsic factor and other causes. + +Overview + +Pernicious anemia is a type of anemia. The term ""anemia"" usually refers to a condition in which the blood has a lower than normal number of red blood cells. In pernicious anemia, the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. + +Without enough vitamin B12, your red blood cells don't divide normally and are too large. They may have trouble getting out of the bone marrowa sponge-like tissue inside the bones where blood cells are made. + +Without enough red blood cells to carry oxygen to your body, you may feel tired and weak. Severe or long-lasting pernicious anemia can damage the heart, brain, and other organs in the body. + +Pernicious anemia also can cause other problems, such as nerve damage, neurological problems (such as memory loss), and digestive tract problems. People who have pernicious anemia also may be at higher risk for weakened bone strength and stomach cancer. + +Outlook + +The term pernicious means deadly. The condition is called pernicious anemia because it often was fatal in the past, before vitamin B12 treatments were available. Now, pernicious anemia usually is easy to treat with vitamin B12 pills or shots. + +With ongoing care and proper treatment, most people who have pernicious anemia can recover, feel well, and live normal lives. + +Without treatment, pernicious anemia can lead to serious problems with the heart, nerves, and other parts of the body. Some of these problems may be permanent.",NHLBI,Pernicious Anemia +What causes Pernicious Anemia ?,"Pernicious anemia is caused by a lack of intrinsic factor or other causes, such as infections, surgery, medicines, or diet. + +Lack of Intrinsic Factor + +Intrinsic factor is a protein made in the stomach. It helps your body absorb vitamin B12. In some people, an autoimmune response causes a lack of intrinsic factor. + +An autoimmune response occurs if the bodys immune system makes antibodies (proteins) that mistakenly attack and damage the body's tissues or cells. + +In pernicious anemia, the body makes antibodies that attack and destroy the parietal (pa-RI-eh-tal) cells. These cells line the stomach and make intrinsic factor. Why this autoimmune response occurs isn't known. + +As a result of this attack, the stomach stops making intrinsic factor. Without intrinsic factor, your body can't move vitamin B12 through the small intestine, where it's absorbed. This leads to vitamin B12 deficiency. + +A lack of intrinsic factor also can occur if you've had part or all of your stomach surgically removed. This type of surgery reduces the number of parietal cells available to make intrinsic factor. + +Rarely, children are born with an inherited disorder that prevents their bodies from making intrinsic factor. This disorder is called congenital pernicious anemia. + +Other Causes + +Pernicious anemia also has other causes, besides a lack of intrinsic factor. Malabsorption in the small intestine and a diet lacking vitamin B12 both can lead to pernicious anemia. + +Malabsorption in the Small Intestine + +Sometimes pernicious anemia occurs because the body's small intestine can't properly absorb vitamin B12. This may be the result of: + +Too many of the wrong kind of bacteria in the small intestine. This is a common cause of pernicious anemia in older adults. The bacteria use up the available vitamin B12 before the small intestine can absorb it. + +Diseases that interfere with vitamin B12 absorption. One example is celiac disease. This is a genetic disorder in which your body can't tolerate a protein called gluten. Another example is Crohn's disease, an inflammatory bowel disease. HIV also may interfere with vitamin B12 absorption. + +Certain medicines that alter bacterial growth or prevent the small intestine from properly absorbing vitamin B12. Examples include antibiotics and certain diabetes and seizure medicines. + +Surgical removal of part or all of the small intestine. + +A tapeworm infection. The tapeworm feeds off of the vitamin B12. Eating undercooked, infected fish may cause this type of infection. + +Diet Lacking Vitamin B12 + +Some people get pernicious anemia because they don't have enough vitamin B12 in their diets. This cause of pernicious anemia is less common than other causes. + +Good food sources of vitamin B12 include: + +Breakfast cereals with added vitamin B12 + +Meats such as beef, liver, poultry, and fish + +Eggs and dairy products (such as milk, yogurt, and cheese) + +Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers + +Strict vegetarians who don't eat any animal or dairy products and don't take a vitamin B12 supplement are at risk for pernicious anemia. + +Breastfed infants of strict vegetarian mothers also are at risk for pernicious anemia. These infants can develop anemia within months of being born. This is because they haven't had enough time to store vitamin B12 in their bodies. Doctors treat these infants with vitamin B12 supplements. + +Other groups, such as the elderly and people who suffer from alcoholism, also may be at risk for pernicious anemia. These people may not get the proper nutrients in their diets.",NHLBI,Pernicious Anemia +Who is at risk for Pernicious Anemia? ?,"Pernicious anemia is more common in people of Northern European and African descent than in other ethnic groups. + +Older people also are at higher risk for the condition. This is mainly due to a lack of stomach acid and intrinsic factor, which prevents the small intestine from absorbing vitamin B12. As people grow older, they tend to make less stomach acid. + +Pernicious anemia also can occur in younger people and other populations. You're at higher risk for pernicious anemia if you: + +Have a family history of the condition. + +Have had part or all of your stomach surgically removed. The stomach makes intrinsic factor. This protein helps your body absorb vitamin B12. + +Have an autoimmune disorder that involves the endocrine glands, such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo. Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response. + +Have had part or all of your small intestine surgically removed. The small intestine is where vitamin B12 is absorbed. + +Have certain intestinal diseases or other disorders that may prevent your body from properly absorbing vitamin B12. Examples include Crohn's disease, intestinal infections, and HIV. + +Take medicines that prevent your body from properly absorbing vitamin B12. Examples of such medicines include antibiotics and certain seizure medicines. + +Are a strict vegetarian who doesn't eat any animal or dairy products and doesn't take a vitamin B12 supplement, or if you eat poorly overall.",NHLBI,Pernicious Anemia +What are the symptoms of Pernicious Anemia ?,"A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia. + +Some of the signs and symptoms of pernicious anemia apply to all types of anemia. Other signs and symptoms are specific to a lack of vitamin B12. + +Signs and Symptoms of Anemia + +The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesnt have enough red blood cells to carry oxygen to its various parts. + +A low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale or yellowish skin, and chest pain. + +A lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to irregular heartbeats called arrhythmias (ah-RITH-me-ahs), heart murmur, an enlarged heart, or even heart failure. + +Signs and Symptoms of Vitamin B12 Deficiency + +Vitamin B12 deficiency may lead to nerve damage. This can cause tingling and numbness in your hands and feet, muscle weakness, and loss of reflexes. You also may feel unsteady, lose your balance, and have trouble walking. Vitamin B12 deficiency can cause weakened bones and may lead to hip fractures. + +Severe vitamin B12 deficiency can cause neurological problems, such as confusion, dementia, depression, and memory loss. + +Other symptoms of vitamin B12 deficiency involve the digestive tract. These symptoms include nausea (feeling sick to your stomach) and vomiting, heartburn, abdominal bloating and gas, constipation or diarrhea, loss of appetite, and weight loss. An enlarged liver is another symptom. + +A smooth, thick, red tongue also is a sign of vitamin B12 deficiency and pernicious anemia. + +Infants who have vitamin B12 deficiency may have poor reflexes or unusual movements, such as face tremors. They may have trouble feeding due to tongue and throat problems. They also may be irritable. If vitamin B12 deficiency isn't treated, these infants may have permanent growth problems.",NHLBI,Pernicious Anemia +How to diagnose Pernicious Anemia ?,"Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results. + +Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated. + +Specialists Involved + +Primary care doctorssuch as family doctors, internists, and pediatricians (doctors who treat children)often diagnose and treat pernicious anemia. Other kinds of doctors also may be involved, including: + +A neurologist (nervous system specialist) + +A cardiologist (heart specialist) + +A hematologist (blood disease specialist) + +A gastroenterologist (digestive tract specialist) + +Medical and Family Histories + +Your doctor may ask about your signs and symptoms. He or she also may ask: + +Whether you've had any stomach or intestinal surgeries + +Whether you have any digestive disorders, such as celiac disease or Crohn's disease + +About your diet and any medicines you take + +Whether you have a family history of anemia or pernicious anemia + +Whether you have a family history of autoimmune disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response. + +Physical Exam + +During the physical exam, your doctor may check for pale or yellowish skin and an enlarged liver. He or she may listen to your heart for rapid or irregular heartbeats or a heart murmur. + +Your doctor also may check for signs of nerve damage. He or she may want to see how well your muscles, eyes, senses, and reflexes work. Your doctor may ask questions or do tests to check your mental status, coordination, and ability to walk. + +Diagnostic Tests and Procedures + +Blood tests and procedures can help diagnose pernicious anemia and find out what's causing it. + +Complete Blood Count + +Often, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small amount of blood is drawn from a vein (usually in your arm) using a needle. + +A CBC checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. + +The normal range of these levels may be lower in certain racial and ethnic populations. Your doctor can explain your test results to you. + +The CBC also checks the number of red blood cells, white blood cells, and platelets (PLATE-lets) in your blood. Abnormal results may be a sign of anemia, another blood disorder, an infection, or another condition. + +Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. MCV can be a clue as to what's causing your anemia. In pernicious anemia, the red blood cells tend to be larger than normal. + +Other Blood Tests + +If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have. + +A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have pernicious anemia have low reticulocyte counts. + +Serum folate, iron, and iron-binding capacity tests also can help show whether you have pernicious anemia or another type of anemia. + +Another common test, called the Combined Binding Luminescence Test, sometimes gives false results. Scientists are working to develop a more reliable test. + +Your doctor may recommend other blood tests to check: + +Your vitamin B12 level. A low level of vitamin B12 in the blood indicates pernicious anemia. However, a falsely normal or high value of vitamin B12 in the blood may occur if antibodies interfere with the test. + +Your homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia. + +For intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia. + +Bone Marrow Tests + +Bone marrow tests can show whether your bone marrow is healthy and making enough red blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. + +For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope. + +In pernicious anemia, the bone marrow cells that turn into blood cells are larger than normal.",NHLBI,Pernicious Anemia +What are the treatments for Pernicious Anemia ?,"Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. + +The goals of treating pernicious anemia include: + +Preventing or treating the anemia and its signs and symptoms + +Preventing or managing complications, such as heart and nerve damage + +Treating the cause of the pernicious anemia (if a cause can be found) + +Specific Types of Treatment + +Pernicious anemia usually is easy to treat with vitamin B12 shots or pills. + +If you have severe pernicious anemia, your doctor may recommend shots first. Shots usually are given in a muscle every day or every week until the level of vitamin B12 in your blood increases. After your vitamin B12 blood level returns to normal, you may get a shot only once a month. + +For less severe pernicious anemia, your doctor may recommend large doses of vitamin B12 pills. A vitamin B12 nose gel and spray also are available. These products may be useful for people who have trouble swallowing pills, such as older people who have had strokes. + +Your signs and symptoms may begin to improve within a few days after you start treatment. Your doctor may advise you to limit your physical activity until your condition improves. + +If your pernicious anemia is caused by something other than a lack of intrinsic factor, you may get treatment for the cause (if a cause can be found). For example, your doctor may prescribe medicines to treat a condition that prevents your body from absorbing vitamin B12. + +If medicines are the cause of your pernicious anemia, your doctor may change the type or dose of medicine you take. Infants of strict vegetarian mothers may be given vitamin B12 supplements from birth.",NHLBI,Pernicious Anemia +How to prevent Pernicious Anemia ?,"You can't prevent pernicious anemia caused by a lack of intrinsic factor. Without intrinsic factor, you won't be able to absorb vitamin B12 and will develop pernicious anemia. + +Although uncommon, some people develop pernicious anemia because they don't get enough vitamin B12 in their diets. You can take steps to prevent pernicious anemia caused by dietary factors. + +Eating foods high in vitamin B12 can help prevent low vitamin B12 levels. Good food sources of vitamin B12 include: + +Breakfast cereals with added vitamin B12 + +Meats such as beef, liver, poultry, and fish + +Eggs and dairy products (such as milk, yogurt, and cheese) + +Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers + +If youre a strict vegetarian, talk with your doctor about having your vitamin B12 level checked regularly. + +Vitamin B12 also is found in multivitamins and B-complex vitamin supplements. Doctors may recommend supplements for people at risk for vitamin B12 deficiency, such as strict vegetarians or people who have had stomach surgery. + +Older adults may have trouble absorbing vitamin B12. Thus, doctors may recommend that older adults eat foods fortified with vitamin B12 or take vitamin B12 supplements.",NHLBI,Pernicious Anemia +What is (are) Deep Vein Thrombosis ?,"Espaol + +Deep vein thrombosis (throm-BO-sis), or DVT, is a blood clot that forms in a vein deep in the body. Blood clots occur when blood thickens and clumps together. + +Most deep vein blood clots occur in the lower leg or thigh. They also can occur in other parts of the body. + +A blood clot in a deep vein can break off and travel through the bloodstream. The loose clot is called an embolus (EM-bo-lus). It can travel to an artery in the lungs and block blood flow. This condition is called pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE. + +PE is a very serious condition. It can damage the lungs and other organs in the body and cause death. + +Blood clots in the thighs are more likely to break off and cause PE than blood clots in the lower legs or other parts of the body. Blood clots also can form in veins closer to the skin's surface. However, these clots won't break off and cause PE. + +The animation below shows a deep vein blood clot. Click the ""start"" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. + + + + + +The animation shows how a blood clot in a deep vein of the leg can break off, travel to the lungs, and block blood flow.",NHLBI,Deep Vein Thrombosis +What causes Deep Vein Thrombosis ?,"Blood clots can form in your body's deep veins if: + +A vein's inner lining is damaged. Injuries caused by physical, chemical, or biological factors can damage the veins. Such factors include surgery, serious injuries, inflammation, and immune responses. + +Blood flow is sluggish or slow. Lack of motion can cause sluggish or slow blood flow. This may occur after surgery, if you're ill and in bed for a long time, or if you're traveling for a long time. + +Your blood is thicker or more likely to clot than normal. Some inherited conditions (such as factor V Leiden) increase the risk of blood clotting. Hormone therapy or birth control pills also can increase the risk of clotting.",NHLBI,Deep Vein Thrombosis +Who is at risk for Deep Vein Thrombosis? ?,"The risk factors for deep vein thrombosis (DVT) include: + +A history of DVT. + +Conditions or factors that make your blood thicker or more likely to clot than normal. Some inherited blood disorders (such as factor V Leiden) will do this. Hormone therapy or birth control pills also increase the risk of clotting. + +Injury to a deep vein from surgery, a broken bone, or other trauma. + +Slow blood flow in a deep vein due to lack of movement. This may occur after surgery, if you're ill and in bed for a long time, or if you're traveling for a long time. + +Pregnancy and the first 6 weeks after giving birth. + +Recent or ongoing treatment for cancer. + +A central venous catheter. This is a tube placed in a vein to allow easy access to the bloodstream for medical treatment. + +Older age. Being older than 60 is a risk factor for DVT, although DVT can occur at any age. + +Overweight or obesity. + +Smoking. + +Your risk for DVT increases if you have more than one of the risk factors listed above.",NHLBI,Deep Vein Thrombosis +What are the symptoms of Deep Vein Thrombosis ?,"The signs and symptoms of deep vein thrombosis (DVT) might be related to DVT itself or pulmonary embolism (PE). See your doctor right away if you have signs or symptoms of either condition. Both DVT and PE can cause serious, possibly life-threatening problems if not treated. + +Deep Vein Thrombosis + +Only about half of the people who have DVT have signs and symptoms. These signs and symptoms occur in the leg affected by the deep vein clot. They include: + +Swelling of the leg or along a vein in the leg + +Pain or tenderness in the leg, which you may feel only when standing or walking + +Increased warmth in the area of the leg that's swollen or painful + +Red or discolored skin on the leg + +Pulmonary Embolism + +Some people aren't aware of a deep vein clot until they have signs and symptoms of PE. Signs and symptoms of PE include: + +Unexplained shortness of breath + +Pain with deep breathing + +Coughing up blood + +Rapid breathing and a fast heart rate also may be signs of PE.",NHLBI,Deep Vein Thrombosis +How to diagnose Deep Vein Thrombosis ?,"Your doctor will diagnose deep vein thrombosis (DVT) based on your medical history, a physical exam, and test results. He or she will identify your risk factors and rule out other causes of your symptoms. + +For some people, DVT might not be diagnosed until after they receive emergency treatment for pulmonary embolism (PE). + +Medical History + +To learn about your medical history, your doctor may ask about: + +Your overall health + +Any prescription medicines you're taking + +Any recent surgeries or injuries you've had + +Whether you've been treated for cancer + +Physical Exam + +Your doctor will check your legs for signs of DVT, such as swelling or redness. He or she also will check your blood pressure and your heart and lungs. + +Diagnostic Tests + +Your doctor may recommend tests to find out whether you have DVT. + +Common Tests + +The most common test for diagnosing deep vein blood clots is ultrasound. This test uses sound waves to create pictures of blood flowing through the arteries and veins in the affected leg. + +Your doctor also may recommend a D-dimer test or venography (ve-NOG-rah-fee). + +A D-dimer test measures a substance in the blood that's released when a blood clot dissolves. If the test shows high levels of the substance, you may have a deep vein blood clot. If your test results are normal and you have few risk factors, DVT isn't likely. + +Your doctor may suggest venography if an ultrasound doesn't provide a clear diagnosis. For venography, dye is injected into a vein in the affected leg. The dye makes the vein visible on an x-ray image. The x ray will show whether blood flow is slow in the vein, which may suggest a blood clot. + +Other Tests + +Other tests used to diagnose DVT include magnetic resonance imaging (MRI) and computed tomography (to-MOG-rah-fee), or CT, scanning. These tests create pictures of your organs and tissues. + +You may need blood tests to check whether you have an inherited blood clotting disorder that can cause DVT. This may be the case if you have repeated blood clots that are not related to another cause. Blood clots in an unusual location (such as the liver, kidney, or brain) also may suggest an inherited clotting disorder. + +If your doctor thinks that you have PE, he or she may recommend more tests, such as a lung ventilation perfusion scan (VQ scan). A lung VQ scan shows how well oxygen and blood are flowing to all areas of the lungs. + +For more information about diagnosing PE, go to the Health Topics Pulmonary Embolism article.",NHLBI,Deep Vein Thrombosis +What are the treatments for Deep Vein Thrombosis ?,"Doctors treat deep vein thrombosis (DVT) with medicines and other devices and therapies. The main goals of treating DVT are to: + +Stop the blood clot from getting bigger + +Prevent the blood clot from breaking off and moving to your lungs + +Reduce your chance of having another blood clot + +Medicines + +Your doctor may prescribe medicines to prevent or treat DVT. + +Anticoagulants + +Anticoagulants (AN-te-ko-AG-u-lants) are the most common medicines for treating DVT. They're also known as blood thinners. + +These medicines decrease your blood's ability to clot. They also stop existing blood clots from getting bigger. However, blood thinners can't break up blood clots that have already formed. (The body dissolves most blood clots with time.) + +Blood thinners can be taken as a pill, an injection under the skin, or through a needle or tube inserted into a vein (called intravenous, or IV, injection). + +Warfarin and heparin are two blood thinners used to treat DVT. Warfarin is given in pill form. (Coumadin is a common brand name for warfarin.) Heparin is given as an injection or through an IV tube. There are different types of heparin. Your doctor will discuss the options with you. + +Your doctor may treat you with both heparin and warfarin at the same time. Heparin acts quickly. Warfarin takes 2 to 3 days before it starts to work. Once the warfarin starts to work, the heparin is stopped. + +Pregnant women usually are treated with just heparin because warfarin is dangerous during pregnancy. + +Treatment for DVT using blood thinners usually lasts for 6 months. The following situations may change the length of treatment: + +If your blood clot occurred after a short-term risk (for example, surgery), your treatment time may be shorter. + +If you've had blood clots before, your treatment time may be longer. + +If you have certain other illnesses, such as cancer, you may need to take blood thinners for as long as you have the illness. + +The most common side effect of blood thinners is bleeding. Bleeding can happen if the medicine thins your blood too much. This side effect can be life threatening. + +Sometimes the bleeding is internal (inside your body). People treated with blood thinners usually have regular blood tests to measure their blood's ability to clot. These tests are called PT and PTT tests. + +These tests also help your doctor make sure you're taking the right amount of medicine. Call your doctor right away if you have easy bruising or bleeding. These may be signs that your medicines have thinned your blood too much. + +Thrombin Inhibitors + +These medicines interfere with the blood clotting process. They're used to treat blood clots in patients who can't take heparin. + +Thrombolytics + +Doctors prescribe these medicines to quickly dissolve large blood clots that cause severe symptoms. Because thrombolytics can cause sudden bleeding, they're used only in life-threatening situations. + +Other Types of Treatment + +Vena Cava Filter + +If you can't take blood thinners or they're not working well, your doctor may recommend a vena cava filter. + +The filter is inserted inside a large vein called the vena cava. The filter catches blood clots before they travel to the lungs, which prevents pulmonary embolism. However, the filter doesn't stop new blood clots from forming. + +Graduated Compression Stockings + +Graduated compression stockings can reduce leg swelling caused by a blood clot. These stockings are worn on the legs from the arch of the foot to just above or below the knee. + +Compression stockings are tight at the ankle and become looser as they go up the leg. This creates gentle pressure up the leg. The pressure keeps blood from pooling and clotting. + +There are three types of compression stockings. One type is support pantyhose, which offer the least amount of pressure. + +The second type is over-the-counter compression hose. These stockings give a little more pressure than support pantyhose. Over-the-counter compression hose are sold in medical supply stores and pharmacies. + +Prescription-strength compression hose offer the greatest amount of pressure. They also are sold in medical supply stores and pharmacies. However, a specially trained person needs to fit you for these stockings. + +Talk with your doctor about how long you should wear compression stockings.",NHLBI,Deep Vein Thrombosis +How to prevent Deep Vein Thrombosis ?,"You can take steps to prevent deep vein thrombosis (DVT) and pulmonary embolism (PE). If you're at risk for these conditions: + +See your doctor for regular checkups. + +Take all medicines as your doctor prescribes. + +Get out of bed and move around as soon as possible after surgery or illness (as your doctor recommends). Moving around lowers your chance of developing a blood clot. + +Exercise your lower leg muscles during long trips. This helps prevent blood clots from forming. + +If you've had DVT or PE before, you can help prevent future blood clots. Follow the steps above and: + +Take all medicines that your doctor prescribes to prevent or treat blood clots + +Follow up with your doctor for tests and treatment + +Use compression stockings as your doctor directs to prevent leg swelling + +Contact your doctor at once if you have any signs or symptoms of DVT or PE. For more information, go to ""What Are the Signs and Symptoms of Deep Vein Thrombosis?"" + +Travel Tips + +The risk of developing DVT while traveling is low. The risk increases if the travel time is longer than 4 hours or you have other DVT risk factors. + +During long trips, it may help to: + +Walk up and down the aisles of the bus, train, or airplane. If traveling by car, stop about every hour and walk around. + +Move your legs and flex and stretch your feet to improve blood flow in your calves. + +Wear loose and comfortable clothing. + +Drink plenty of fluids and avoid alcohol. + +If you have risk factors for DVT, your doctor may advise you to wear compression stockings while traveling. Or, he or she may suggest that you take a blood-thinning medicine before traveling.",NHLBI,Deep Vein Thrombosis +What is (are) High Blood Pressure ?,"Espaol + +High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. + +Measuring Blood Pressure + +Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps blood. High blood pressure, sometimes called hypertension, happens when this force is too high. Health care workers check blood pressure readings the same way for children, teens, and adults. They use a gauge, stethoscope or electronic sensor, and a blood pressure cuff. With this equipment, they measure: + +Systolic Pressure: blood pressure when the heart beats while pumping blood + +Diastolic Pressure: blood pressure when the heart is at rest between beats + +Health care workers write blood pressure numbers with the systolic number above the diastolic number. For example: + + + +118/76 mmHg People read ""118 over 76"" millimeters of mercury. + +Normal Blood Pressure + +Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. + +Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults. + +Abnormal Blood Pressure + +Abnormal increases in blood pressure are defined as having blood pressures higher than 120/80 mmHg. The following table outlines and defines high blood pressure severity levels. + +Stages of High Blood Pressure in Adults + +The ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg. + +Although blood pressure increases seen in prehypertension are less than those used to diagnose high blood pressure, prehypertension can progress to high blood pressure and should be taken seriously. Over time, consistently high blood pressure weakens and damages your blood vessels, which can lead to complications. + +Types of High Blood Pressure + +There are two main types of high blood pressure: primary and secondary high blood pressure. + +Primary High Blood Pressure + +Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. + +Secondary High Blood Pressure + +Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed.",NHLBI,High Blood Pressure +What causes High Blood Pressure ?,"Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function. + +Biology and High Blood Pressure + +Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include: + +Kidney fluid and salt balances + +Renin-angiotensin-aldosterone system + +Sympathetic nervous system activity + +Blood vessel structure and function + + + +Kidney Fluid and Salt Balances + +The kidneys normally regulate the bodys salt balance by retaining sodium and water and excreting potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure. + + + +Renin-Angiotensin-Aldosterone System + +The renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure. + + + +Sympathetic Nervous System Activity + +The sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure. + + + +Blood Vessel Structure and Function + +Changes in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure. + + + +Genetic Causes of High Blood Pressure + +Much of the understanding of the body systems involved in high blood pressure has come from genetic studies. High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure, some in the renal salt regulatory and renin-angiotensin-aldosterone pathways. However, these known genetic factors only account for 2 to 3percent of all cases. Emerging research suggests that certain DNA changes during fetal development also may cause the development of high blood pressure later in life. + +Environmental Causes of High Blood Pressure + +Environmental causes of high blood pressure include unhealthy lifestyle habits, being overweight or obese, and medicines. + + + +Unhealthy Lifestyle Habits + +Unhealthy lifestyle habits can cause high blood pressure, including: + +High dietary sodium intake and sodium sensitivity + +Drinking excess amounts of alcohol + +Lack of physical activity + + + +Overweight and Obesity + +Research studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure. + + + +Medicines + +Prescription medicines such as asthma or hormone therapies, including birth control pills and estrogen, and over-the-counter medicines such as cold relief medicines may cause this form of high blood pressure. This happens because medicines can change the way your body controls fluid and salt balances, cause your blood vessels to constrict, or impact the renin-angiotensin-aldosterone system leading to high blood pressure. + +Other Medical Causes of High Blood Pressure + +Other medical causes of high blood pressure include other medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. This happens because these other conditions change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.",NHLBI,High Blood Pressure +Who is at risk for High Blood Pressure? ?,"Anyone can develop high blood pressure; however, age, race or ethnicity, being overweight, gender, lifestyle habits, and a family history of high blood pressure can increase your risk for developing high blood pressure. + +Age + +Blood pressure tends to rise with age. About 65 percent of Americans age 60 or older have high blood pressure. However, the risk for prehypertension and high blood pressure is increasing for children and teens, possibly due to the rise in the number of overweight children and teens. + +Race/Ethnicity + +High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans: + +Tend to get high blood pressure earlier in life. + +Often, on average, have higher blood pressure numbers. + +Are less likely to achieve target blood pressure goals with treatment. + +Overweight + +You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height. + +Gender + +Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure. + +Lifestyle Habits + +Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include: + +Eating too much sodium or too little potassium + +Lack of physical activity + +Drinking too much alcohol + +Stress + +Family History + +A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.",NHLBI,High Blood Pressure +What are the symptoms of High Blood Pressure ?,"Because diagnosis is based on blood pressure readings, this condition can go undetected for years, as symptoms do not usually appear until the body is damaged from chronic high blood pressure. + + + +Complications of High Blood Pressure + +When blood pressure stays high over time, it can damage the body and cause complications. Some common complications and their signs and symptoms include: + +Aneurysms:When an abnormal bulge forms in the wall of an artery. Aneurysms develop and grow for years without causing signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. The signs and symptoms that develop depend on the location of the aneurysm. + +Chronic Kidney Disease: When blood vessels narrow in the kidneys, possibly causing kidney failure. + +Cognitive Changes: Research shows that over time, higher blood pressure numbers can lead to cognitive changes. Signs and symptoms include memory loss, difficulty finding words, and losing focus during conversations. + +Eye Damage: When blood vessels in the eyes burst or bleed. Signs and symptoms include vision changes or blindness. + +Heart Attack: When the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart doesnt get oxygen. The most common warning symptoms of a heart attack are chest pain or discomfort, upper body discomfort, and shortness of breath. + +Heart Failure: When the heart cant pump enough blood to meet the bodys needs. Common signs and symptoms of heart failure include shortness of breath or trouble breathing; feeling tired; and swelling in the ankles, feet, legs, abdomen, and veins in the neck. + +Peripheral Artery Disease: A disease in which plaque builds up in leg arteries and affects blood flow in the legs. When people have symptoms, the most common are pain, cramping, numbness, aching, or heaviness in the legs, feet, and buttocks after walking or climbing stairs. + +Stroke: When the flow of oxygen-rich blood to a portion of the brain is blocked. The symptoms of a stroke include sudden onset of weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing.",NHLBI,High Blood Pressure +How to diagnose High Blood Pressure ?,"For most patients, health care providers diagnose high blood pressure when blood pressure readings areconsistently 140/90 mmHg or above. + +Confirming High Blood Pressure + +A blood pressure test is easy and painless and can be done in a health care providers office or clinic. To prepare for the test: + +Dont drink coffee or smoke cigarettes for 30 minutes prior to the test. + +Go to the bathroom before the test. + +Sit for 5 minutes before the test. + +To track blood pressure readings over a period of time, the health care provider may ask you to come into the office on different days and at different times to take your blood pressure. The health care provider also may ask you to check readings at home or at other locations that have blood pressure equipment and to keep a written log of all your results. + +Whenever you have an appointment with the health care provider, be sure to bring your log of blood pressure readings. Every time you visit the health care provider, he or she should tell you what your blood pressure numbers are; if he or she does not, you should ask for your readings. + +Blood Pressure Severity and Type + +Your health care provider usually takes 23 readings at several medical appointments to diagnose high blood pressure. Using the results of your blood pressure test, your health care provider will diagnose prehypertension or high blood pressure if: + +Your systolic or diastolic readings are consistently higher than 120/80 mmHg. + +Your childs blood pressure numbers are outside average numbers for children of the same age, gender, and height. + +Once your health care provider determines the severity of your blood pressure, he or she can order additional tests to determine if your blood pressure is due to other conditions or medicines or if you have primary high blood pressure. Health care providers can use this information to develop your treatment plan. + +Some people have white coat hypertension. This happens when blood pressure readings are only high when taken in a health care providers office compared with readings taken in any other location. Health care providers diagnose this type of high blood pressure by reviewing readings in the office and readings taken anywhere else. Researchers believe stress, which can occur during the medical appointment, causes white coat hypertension.",NHLBI,High Blood Pressure +What are the treatments for High Blood Pressure ?,"Based on your diagnosis, health care providers develop treatment plans for high blood pressure that include lifelong lifestyle changes and medicines to control high blood pressure; lifestyle changes such as weight loss can be highly effective in treating high blood pressure. + + + +Treatment Plans + +Health care providers work with you to develop a treatment plan based on whether you were diagnosed with primary or secondary high blood pressure and if there is a suspected or known cause. Treatment plans may evolve until blood pressure control is achieved. + +If your health care provider diagnoses you with secondary high blood pressure, he or she will work to treat the other condition or change the medicine suspected of causing your high blood pressure. If high blood pressure persists or is first diagnosed as primary high blood pressure, your treatment plan will include lifestyle changes. When lifestyle changes alone do not control or lower blood pressure, your health care provider may change or update your treatment plan by prescribing medicines to treat the disease. Health care providers prescribe children and teens medicines at special doses that are safe and effective in children. + +If your health care provider prescribes medicines as a part of your treatment plan, keep up your healthy lifestyle habits. The combination of the medicines and the healthy lifestyle habits helps control and lower your high blood pressure. + +Some people develop resistant or uncontrolled high blood pressure. This can happen when the medications they are taking do not work well for them or another medical condition is leading to uncontrolled blood pressure. Health care providers treat resistant or uncontrolled high blood pressure with an intensive treatment plan that can include a different set of blood pressure medications or other special treatments. + +To achieve the best control of your blood pressure, follow your treatment plan and take all medications as prescribed. Following your prescribed treatment plan is important because it can prevent or delay complications that high blood pressure can cause and can lower your risk for other related problems. + + + +Healthy Lifestyle Changes + +Healthy lifestyle habits can help you control high blood pressure. These habits include: + +Healthy eating + +Being physically active + +Maintaining a healthy weight + +Limiting alcohol intake + +Managing and coping with stress + +To help make lifelong lifestyle changes, try making one healthy lifestyle change at a time and add another change when you feel that you have successfully adopted the earlier changes. When you practice several healthy lifestyle habits, you are more likely to lower your blood pressure and maintain normal blood pressure readings. + + + +Healthy Eating + +To help treat high blood pressure, health care providers recommend that you limit sodium and salt intake, increase potassium, and eat foods that are heart healthy. + +Limiting Sodium and Salt + +A low-sodium diet can help you manage your blood pressure. You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 mg sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Your health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about the DASH eating plan. + +Heart-Healthy Eating + +Your health care provider also may recommend heart-healthy eating, which should include: + +Whole grains + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Vegetables, such as broccoli, cabbage, and carrots + +Legumes, such as kidney beans, lentils, chick peas, black-eyed peas, and lima beans + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +In the National Heart, Lung, and Blood Institute (NHLBI)-sponsored Hispanic Community Health Study/Study of Latinos, which studied Hispanics living in the United States, Cubans ate more sodium and Mexicans ate less sodium than other Hispanic groups in the study. All Hispanic Americans should follow these healthy eating recommendations even when cooking traditional Latino dishes. Try some of these popular Hispanic American heart-healthy recipes. + + + +Being Physically Active + +Routine physical activity can lower high blood pressure and reduce your risk for other health problems. Talk with your health care provider before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30minutes per week, or vigorous-intensity aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats harder and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time, spread throughout the week. + +Read more about physical activity: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services'2008 Physical Activity Guidelines for Americans + + + +Maintaining a Healthy Weight + +Maintaining a healthy weight can help you control high blood pressure and reduce your risk for other health problems. If youre overweight or obese, try to lose weight. A loss of just 3 to 5 percent can lower your risk for health problems. Greater amounts of weight loss can improve blood pressure readings, lowerLDL cholesterol, and increase HDL cholesterol. However, research shows that no matter your weight, it is important to control high blood pressure to maintain good health. + +A useful measure of overweight and obesity is body mass index (BMI). BMI measures your weight in relation to your height. To figure out your BMI, check out NHLBIs online BMI calculator or talk to yourhealth care provider. + +A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the healthy range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI below 25. Your health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, go to Aim for a Healthy Weight. + + + +Limiting Alcohol Intake + +Limit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Managing and Coping With Stress + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health and can lower high blood pressure. Stress management techniques include: + +Being physically active + +Listening to music or focusing on something calm or peaceful + +Performing yoga or tai chi + +Meditating + + + +Medicines + +Blood pressure medicines work in different ways to stop or slow some of the bodys functions that cause high blood pressure. Medicines to lower blood pressure include: + +Diuretics (Water or Fluid Pills): Flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. + +Beta Blockers: Help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. + +Angiotensin-Converting Enzyme (ACE) Inhibitors: Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. + +Angiotensin II Receptor Blockers (ARBs): Block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. + +Calcium Channel Blockers: Keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. + +Alpha Blockers: Reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. + +Alpha-Beta Blockers: Reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. + +Central Acting Agents: Act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. + +Vasodilators: Relax the muscles in blood vessel walls, which can lower blood pressure. + +To lower and control blood pressure, many people take two or more medicines. If you have side effects from your medicines, dont stop taking your medicines. Instead, talk with your health care provider about the side effects to see if the dose can be changed or a new medicine prescribed. + +Future Treatments + +Scientists, doctors, and researchers continue to study the changes that cause high blood pressure, to develop new medicines and treatments to control high blood pressure. Possible future treatments under investigation include new combination medicines, vaccines, and interventions aimed at the sympathetic nervous system, such as kidney nerve ablation.",NHLBI,High Blood Pressure +How to prevent High Blood Pressure ?,"Healthy lifestyle habits, proper use of medicines, and regular medical care can prevent high blood pressure or its complications. + +Preventing High Blood Pressure Onset + +Healthy lifestyle habits can help prevent high blood pressure from developing. It is important to check your blood pressure regularly. Children should have their blood pressure checked starting at 3 years of age. If prehypertension is detected, it should be taken seriously to avoid progressing to high blood pressure. + +Preventing Worsening High Blood Pressure or Complications + +If you have been diagnosed with high blood pressure, it is important to obtain regular medical care and to follow your prescribed treatment plan, which will include healthy lifestyle habit recommendations and possibly medicines. Not only can healthy lifestyle habits prevent high blood pressure from occurring, but they can reverse prehypertension and help control existing high blood pressure or prevent complications and long-term problems associated with this condition, such as coronary heart disease, stroke, or kidney disease.",NHLBI,High Blood Pressure +What is (are) Anemia ?,"Espaol + +Anemia (uh-NEE-me-uh) is a condition in which your blood has a lower than normal number of red blood cells. + +Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that gives blood its red color. This protein helps red blood cells carry oxygen from the lungs to the rest of the body. + +If you have anemia, your body doesn't get enough oxygen-rich blood. As a result, you may feel tired or weak. You also may have other symptoms, such as shortness of breath, dizziness, or headaches. + +Severe or long-lasting anemia can damage your heart, brain, and other organs in your body. Very severe anemia may even cause death. + +Overview + +Blood is made up of many parts, including red blood cells, white blood cells, platelets (PLATE-lets), and plasma (the fluid portion of blood). + +Red blood cells are disc-shaped and look like doughnuts without holes in the center. They carry oxygen and remove carbon dioxide (a waste product) from your body. These cells are made in the bone marrowa sponge-like tissue inside the bones. + +White blood cells and platelets (PLATE-lets) also are made in the bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on the blood vessel walls and stop bleeding. With some types of anemia, you may have low numbers of all three types of blood cells. + +Anemia has three main causes: blood loss, lack of red blood cell production, or high rates of red blood cell destruction. These causes might be the result of diseases, conditions, or other factors. + +Outlook + +Many types of anemia can be mild, short term, and easily treated. You can even prevent some types with a healthy diet. Other types can be treated with dietary supplements. + +However, certain types of anemia can be severe, long lasting, and even life threatening if not diagnosed and treated. + +If you have signs or symptoms of anemia, see your doctor to find out whether you have the condition. Treatment will depend on the cause of the anemia and how severe it is.",NHLBI,Anemia +What causes Anemia ?,"The three main causes of anemia are: + +Blood loss + +Lack of red blood cell production + +High rates of red blood cell destruction + +For some people, the condition is caused by more than one of these factors. + +Blood Loss + +Blood loss is the most common cause of anemia, especially iron-deficiency anemia. Blood loss can be short term or persist over time. + +Heavy menstrual periods or bleeding in the digestive or urinary tract can cause blood loss. Surgery, trauma, or cancer also can cause blood loss. + +If a lot of blood is lost, the body may lose enough red blood cells to cause anemia. + +Lack of Red Blood Cell Production + +Both acquired and inherited conditions and factors can prevent your body from making enough red blood cells. ""Acquired"" means you aren't born with the condition, but you develop it. ""Inherited"" means your parents passed the gene for the condition on to you. + +Acquired conditions and factors that can lead to anemia include poor diet, abnormal hormone levels, some chronic (ongoing) diseases, and pregnancy. + +Aplastic anemia also can prevent your body from making enough red blood cells. This condition can be acquired or inherited. + +Diet + +A diet that lacks iron, folic acid (folate), or vitamin B12 can prevent your body from making enough red blood cells. Your body also needs small amounts of vitamin C, riboflavin, and copper to make red blood cells. + +Conditions that make it hard for your body to absorb nutrients also can prevent your body from making enough red blood cells. + +Hormones + +Your body needs the hormone erythropoietin (eh-rith-ro-POY-eh-tin) to make red blood cells. This hormone stimulates the bone marrow to make these cells. A low level of this hormone can lead to anemia. + +Diseases and Disease Treatments + +Chronic diseases, like kidney disease and cancer, can make it hard for your body to make enough red blood cells. + +Some cancer treatments may damage the bone marrow or damage the red blood cells' ability to carry oxygen. If the bone marrow is damaged, it can't make red blood cells fast enough to replace the ones that die or are destroyed. + +People who have HIV/AIDS may develop anemia due to infections or medicines used to treat their diseases. + +Pregnancy + +Anemia can occur during pregnancy due to low levels of iron and folic acid and changes in the blood. + +During the first 6 months of pregnancy, the fluid portion of a woman's blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia. + +Aplastic Anemia + +Some infants are born without the ability to make enough red blood cells. This condition is called aplastic anemia. Infants and children who have aplastic anemia often need blood transfusions to increase the number of red blood cells in their blood. + +Acquired conditions or factors, such as certain medicines, toxins, and infectious diseases, also can cause aplastic anemia. + +High Rates of Red Blood Cell Destruction + +Both acquired and inherited conditions and factors can cause your body to destroy too many red blood cells. One example of an acquired condition is an enlarged or diseased spleen. + +The spleen is an organ that removes wornout red blood cells from the body. If the spleen is enlarged or diseased, it may remove more red blood cells than normal, causing anemia. + +Examples of inherited conditions that can cause your body to destroy too many red blood cells include sickle cell anemia, thalassemias, and lack of certain enzymes. These conditions create defects in the red blood cells that cause them to die faster than healthy red blood cells. + +Hemolytic anemia is another example of a condition in which your body destroys too many red blood cells. Inherited or acquired conditions or factors can cause hemolytic anemia. Examples include immune disorders, infections, certain medicines, or reactions to blood transfusions.",NHLBI,Anemia +Who is at risk for Anemia? ?,"Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation. + +Anemia can develop during pregnancy due to low levels of iron and folic acid (folate) and changes in the blood. During the first 6 months of pregnancy, the fluid portion of a woman's blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia. + +During the first year of life, some babies are at risk for anemia because of iron deficiency. At-risk infants include those who are born too early and infants who are fed breast milk only or formula that isn't fortified with iron. These infants can develop iron deficiency by 6 months of age. + +Infants between 1 and 2 years of age also are at risk for anemia. They may not get enough iron in their diets, especially if they drink a lot of cow's milk. Cow's milk is low in the iron needed for growth. + +Drinking too much cow's milk may keep an infant or toddler from eating enough iron-rich foods or absorbing enough iron from foods. + +Older adults also are at increased risk for anemia. Researchers continue to study how the condition affects older adults. Many of these people have other medical conditions as well. + +Major Risk Factors + +Factors that raise your risk for anemia include: + +A diet that is low in iron, vitamins, or minerals + +Blood loss from surgery or an injury + +Long-term or serious illnesses, such as kidney disease, cancer, diabetes, rheumatoid arthritis, HIV/AIDS, inflammatory bowel disease (including Crohn's disease), liver disease, heart failure, and thyroid disease + +Long-term infections + +A family history of inherited anemia, such as sickle cell anemia or thalassemia",NHLBI,Anemia +What are the symptoms of Anemia ?,"The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities. + +Other signs and symptoms of anemia include: + +Shortness of breath + +Dizziness + +Headache + +Coldness in the hands and feet + +Pale skin + +Chest pain + +These signs and symptoms can occur because your heart has to work harder to pump oxygen-rich blood through your body. + +Mild to moderate anemia may cause very mild symptoms or none at all. + +Complications of Anemia + +Some people who have anemia may have arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure. + +Anemia also can damage other organs in your body because your blood can't get enough oxygen to them. + +Anemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well. + +Anemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.",NHLBI,Anemia +How to diagnose Anemia ?,"Your doctor will diagnose anemia based on your medical and family histories, a physical exam, and results from tests and procedures. + +Because anemia doesn't always cause symptoms, your doctor may find out you have it while checking for another condition. + +Medical and Family Histories + +Your doctor may ask whether you have any of the common signs or symptoms of anemia. He or she also may ask whether you've had an illness or condition that could cause anemia. + +Let your doctor know about any medicines you take, what you typically eat (your diet), and whether you have family members who have anemia or a history of it. + +Physical Exam + +Your doctor will do a physical exam to find out how severe your anemia is and to check for possible causes. He or she may: + +Listen to your heart for a rapid or irregular heartbeat + +Listen to your lungs for rapid or uneven breathing + +Feel your abdomen to check the size of your liver and spleen + +Your doctor also may do a pelvic or rectal exam to check for common sources of blood loss. + +Diagnostic Tests and Procedures + +You may have various blood tests and other tests or procedures to find out what type of anemia you have and how severe it is. + +Complete Blood Count + +Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. + +The test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is the iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. + +The normal range of these levels might be lower in certain racial and ethnic populations. Your doctor can explain your test results to you. + +The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results might be a sign of anemia, another blood disorder, an infection, or another condition. + +Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells and a clue as to the cause of your anemia. In iron-deficiency anemia, for example, red blood cells usually are smaller than normal. + +Other Tests and Procedures + +If the CBC results show that you have anemia, you may need other tests, such as: + +Hemoglobin electrophoresis (e-lek-tro-FOR-e-sis). This test looks at the different types of hemoglobin in your blood. The test can help diagnose the type of anemia you have. + +A reticulocyte (re-TIK-u-lo-site) count. This test measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. + +Tests for the level of iron in your blood and body. These tests include serum iron and serum ferritin tests. Transferrin level and total iron-binding capacity tests also measure iron levels. + +Because anemia has many causes, you also might be tested for conditions such as kidney failure, lead poisoning (in children), and vitamin deficiencies (lack of vitamins, such as B12 and folic acid). + +If your doctor thinks that you have anemia due to internal bleeding, he or she may suggest several tests to look for the source of the bleeding. A test to check the stool for blood might be done in your doctor's office or at home. Your doctor can give you a kit to help you get a sample at home. He or she will tell you to bring the sample back to the office or send it to a laboratory. + +If blood is found in the stool, you may have other tests to find the source of the bleeding. One such test is endoscopy (en-DOS-ko-pe). For this test, a tube with a tiny camera is used to view the lining of the digestive tract. + +Your doctor also may want to do bone marrow tests. These tests show whether your bone marrow is healthy and making enough blood cells.",NHLBI,Anemia +What are the treatments for Anemia ?,"Treatment for anemia depends on the type, cause, and severity of the condition. Treatments may include dietary changes or supplements, medicines, procedures, or surgery to treat blood loss. + +Goals of Treatment + +The goal of treatment is to increase the amount of oxygen that your blood can carry. This is done by raising the red blood cell count and/or hemoglobin level. (Hemoglobin is the iron-rich protein in red blood cells that carries oxygen to the body.) + +Another goal is to treat the underlying cause of the anemia. + +Dietary Changes and Supplements + +Low levels of vitamins or iron in the body can cause some types of anemia. These low levels might be the result of a poor diet or certain diseases or conditions. + +To raise your vitamin or iron level, your doctor may ask you to change your diet or take vitamin or iron supplements. Common vitamin supplements are vitamin B12 and folic acid (folate). Vitamin C sometimes is given to help the body absorb iron. + +Iron + +Your body needs iron to make hemoglobin. Your body can more easily absorb iron from meats than from vegetables or other foods. To treat your anemia, your doctor may suggest eating more meatespecially red meat (such as beef or liver), as well as chicken, turkey, pork, fish, and shellfish. + +Nonmeat foods that are good sources of iron include: + +Spinach and other dark green leafy vegetables + +Tofu + +Peas; lentils; white, red, and baked beans; soybeans; and chickpeas + +Dried fruits, such as prunes, raisins, and apricots + +Prune juice + +Iron-fortified cereals and breads + +You can look at the Nutrition Facts label on packaged foods to find out how much iron the items contain. The amount is given as a percentage of the total amount of iron you need every day. + +Iron also is available as a supplement. It's usually combined with multivitamins and other minerals that help your body absorb iron. + +Doctors may recommend iron supplements for premature infants, infants and young children who drink a lot of cow's milk, and infants who are fed breast milk only or formula that isn't fortified with iron. + +Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes. + +Vitamin B12 + +Low levels of vitamin B12 can lead to pernicious anemia. This type of anemia often is treated with vitamin B12 supplements. + +Good food sources of vitamin B12 include: + +Breakfast cereals with added vitamin B12 + +Meats such as beef, liver, poultry, and fish + +Eggs and dairy products (such as milk, yogurt, and cheese) + +Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers + +Folic Acid + +Folic acid (folate) is a form of vitamin B that's found in foods. Your body needs folic acid to make and maintain new cells. Folic acid also is very important for pregnant women. It helps them avoid anemia and promotes healthy growth of the fetus. + +Good sources of folic acid include: + +Bread, pasta, and rice with added folic acid + +Spinach and other dark green leafy vegetables + +Black-eyed peas and dried beans + +Beef liver + +Eggs + +Bananas, oranges, orange juice, and some other fruits and juices + +Vitamin C + +Vitamin C helps the body absorb iron. Good sources of vitamin C are vegetables and fruits, especially citrus fruits. Citrus fruits include oranges, grapefruits, tangerines, and similar fruits. Fresh and frozen fruits, vegetables, and juices usually have more vitaminC than canned ones. + +If you're taking medicines, ask your doctor or pharmacist whether you can eat grapefruit or drink grapefruit juice. This fruit can affect the strength of a few medicines and how well they work. + +Other fruits rich in vitamin C include kiwi fruit, strawberries, and cantaloupes. + +Vegetables rich in vitamin C include broccoli, peppers, Brussels sprouts, tomatoes, cabbage, potatoes, and leafy green vegetables like turnip greens and spinach. + +Medicines + +Your doctor may prescribe medicines to help your body make more red blood cells or to treat an underlying cause of anemia. Some of these medicines include: + +Antibiotics to treat infections. + +Hormones to treat heavy menstrual bleeding in teenaged and adult women. + +A man-made version of erythropoietin to stimulate your body to make more red blood cells. This hormone has some risks. You and your doctor will decide whether the benefits of this treatment outweigh the risks. + +Medicines to prevent the body's immune system from destroying its own red blood cells. + +Chelation (ke-LAY-shun) therapy for lead poisoning. Chelation therapy is used mainly in children. This is because children who have iron-deficiency anemia are at increased risk of lead poisoning. + +Procedures + +If your anemia is severe, your doctor may recommend a medical procedure. Procedures include blood transfusions and blood and marrow stem cell transplants. + +Blood Transfusion + +A blood transfusion is a safe, common procedure in which blood is given to you through an intravenous (IV) line in one of your blood vessels. Transfusions require careful matching of donated blood with the recipient's blood. + +For more information, go to the Health Topics Blood Transfusion article. + +Blood and Marrow Stem Cell Transplant + +A blood and marrow stem cell transplant replaces your faulty stem cells with healthy ones from another person (a donor). Stem cells are made in the bone marrow. They develop into red and white blood cells and platelets. + +During the transplant, which is like a blood transfusion, you get donated stem cells through a tube placed in a vein in your chest. Once the stem cells are in your body, they travel to your bone marrow and begin making new blood cells. + +For more information, go to the Health Topics Blood and Marrow Stem Cell Transplant article. + +Surgery + +If you have serious or life-threatening bleeding that's causing anemia, you may need surgery. For example, you may need surgery to control ongoing bleeding due to a stomach ulcer or colon cancer. + +If your body is destroying red blood cells at a high rate, you may need to have your spleen removed. The spleen is an organ that removes wornout red blood cells from the body. An enlarged or diseased spleen may remove more red blood cells than normal, causing anemia.",NHLBI,Anemia +How to prevent Anemia ?,"You might be able to prevent repeat episodes of some types of anemia, especially those caused by lack of iron or vitamins. Dietary changes or supplements can prevent these types of anemia from occurring again. + +Treating anemia's underlying cause may prevent the condition (or prevent repeat episodes). For example, if medicine is causing your anemia, your doctor may prescribe another type of medicine. + +To prevent anemia from getting worse, tell your doctor about all of your signs and symptoms. Talk with your doctor about the tests you may need and follow your treatment plan. + +You can't prevent some types of inherited anemia, such as sickle cell anemia. If you have an inherited anemia, talk with your doctor about treatment and ongoing care.",NHLBI,Anemia +What is (are) Cystic Fibrosis ?,"Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. + +""Inherited"" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the diseaseone from each parent. The parents likely don't have the disease themselves. + +CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. + +Overview + +Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. + +If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) + +The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. + +The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. + +These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort. + +CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. + +If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh). + +CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term ""infertility"" refers to the inability to have children.) + +Outlook + +The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years. + +The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often. + +Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF. + +As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer. + +Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments. + +Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.",NHLBI,Cystic Fibrosis +What causes Cystic Fibrosis ?,"A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. + +Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF. + +More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease. + +How Is Cystic Fibrosis Inherited? + +Every person inherits two CFTR genesone from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. + +Children who inherit one faulty CFTR gene and one normal CFTR gene are ""CF carriers."" CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children. + +The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children. + +Example of an Inheritance Pattern for Cystic Fibrosis",NHLBI,Cystic Fibrosis +Who is at risk for Cystic Fibrosis? ?,"Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent. + +CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. The disease is less common among African Americans and Asian Americans. + +More than 10 million Americans are carriers of a faulty CF gene. Many of them don't know that they're CF carriers.",NHLBI,Cystic Fibrosis +What are the symptoms of Cystic Fibrosis ?,"The signs and symptoms of cystic fibrosis (CF) vary from person to person and over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. + +One of the first signs of CF that parents may notice is that their baby's skin tastes salty when kissed, or the baby doesn't pass stool when first born. + +Most of the other signs and symptoms of CF happen later. They're related to how CF affects the respiratory, digestive, or reproductive systems of the body. + +Cystic Fibrosis + + + +Respiratory System Signs and Symptoms + +People who have CF have thick, sticky mucus that builds up in their airways. This buildup of mucus makes it easier for bacteria to grow and cause infections. Infections can block the airways and cause frequent coughing that brings up thick sputum (spit) or mucus that's sometimes bloody. + +People who have CF tend to have lung infections caused by unusual germs that don't respond to standard antibiotics. For example, lung infections caused by bacteria called mucoid Pseudomonas are much more common in people who have CF than in those who don't. An infection caused by these bacteria may be a sign of CF. + +People who have CF have frequent bouts of sinusitis (si-nu-SI-tis), an infection of the sinuses. The sinuses are hollow air spaces around the eyes, nose, and forehead. Frequent bouts of bronchitis (bron-KI-tis) and pneumonia (nu-MO-ne-ah) also can occur. These infections can cause long-term lung damage. + +As CF gets worse, you may have more serious problems, such as pneumothorax (noo-mo-THOR-aks) or bronchiectasis (brong-ke-EK-ta-sis). + +Some people who have CF also develop nasal polyps (growths in the nose) that may require surgery. + +Digestive System Signs and Symptoms + +In CF, mucus can block tubes, or ducts, in your pancreas (an organ in your abdomen). These blockages prevent enzymes from reaching your intestines. + +As a result, your intestines can't fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, foul-smelling, greasy stools. Intestinal blockages also may occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort. + +A hallmark of CF in children is poor weight gain and growth. These children are unable to get enough nutrients from their food because of the lack of enzymes to help absorb fats and proteins. + +As CF gets worse, other problems may occur, such as: + +Pancreatitis (PAN-kre-ah-TI-tis). This is a condition in which the pancreas become inflamed, which causes pain. + +Rectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum. + +Liver disease due to inflamed or blocked bile ducts. + +Diabetes. + +Gallstones. + +Reproductive System Signs and Symptoms + +Men who have CF are infertile because they're born without a vas deferens. The vas deferens is a tube that delivers sperm from the testes to the penis. + +Women who have CF may have a hard time getting pregnant because of mucus blocking the cervix or other CF complications. + +Other Signs, Symptoms, and Complications + +Other signs and symptoms of CF are related to an upset of the balance of minerals in your blood. + +CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. This can cause dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. + +CF also can cause clubbing and low bone density. Clubbing is the widening and rounding of the tips of your fingers and toes. This sign develops late in CF because your lungs aren't moving enough oxygen into your bloodstream. + +Low bone density also tends to occur late in CF. It can lead to bone-thinning disorders called osteoporosis and osteopenia.",NHLBI,Cystic Fibrosis +How to diagnose Cystic Fibrosis ?,"Doctors diagnose cystic fibrosis (CF) based on the results from various tests. + +Newborn Screening + +All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly. + +Sweat Test + +If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat. + +For this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. + +Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF. + +Other Tests + +If you or your child has CF, your doctor may recommend other tests, such as: + +Genetic tests to find out what type of CFTR defect is causing your CF. + +A chest x ray. This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air. + +A sinus x ray. This test may show signs of sinusitis, a complication of CF. + +Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. + +A sputum culture. For this test, your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment. + +Prenatal Screening + +If you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). + +In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal. + +In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. The doctor removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF. + +Cystic Fibrosis Carrier Testing + +People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children. + +If you have a family history of CF or a partner who has CF (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a CF carrier. + +A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.",NHLBI,Cystic Fibrosis +What are the treatments for Cystic Fibrosis ?,"Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include: + +Preventing and controlling lung infections + +Loosening and removing thick, sticky mucus from the lungs + +Preventing or treating blockages in the intestines + +Providing enough nutrition + +Preventing dehydration (a lack of fluid in the body) + +Depending on the severity of CF, you or your child may be treated in a hospital. + +Specialists Involved + +If you or your child has CF, you may be treated by a CF specialist. This is a doctor who is familiar with the complex nature of CF. + +Often, a CF specialist works with a medical team of nurses, physical therapists, dietitians, and social workers. CF specialists often are located at major medical centers. + +The United States also has more than 100 CF Care Centers. These centers have teams of doctors, nurses, dietitians, respiratory therapists, physical therapists, and social workers who have special training related to CF care. Most CF Care Centers have pediatric and adult programs or clinics. + +For more information about CF Care Centers, go to the Cystic Fibrosis Foundation's Care Center Network Web page. + +Treatment for Lung Problems + +The main treatments for lung problems in people who have CF are chest physical therapy (CPT), exercise, and medicines. Your doctor also may recommend a pulmonary rehabilitation (PR) program. + +Chest Physical Therapy + +CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. + +You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs. + +Some people find CPT hard or uncomfortable to do. Several devices have been developed that may help with CPT, such as: + +An electric chest clapper, known as a mechanical percussor. + +An inflatable therapy vest that uses high-frequency airwaves to force the mucus that's deep in your lungs toward your upper airways so you can cough it up. + +A small, handheld device that you exhale through. The device causes vibrations that dislodge the mucus. + +A mask that creates vibrations that help break the mucus loose from your airway walls. + +Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways. + +Exercise + +Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition. + +However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood. + +If you exercise regularly, you may be able to cut back on your CPT. However, you should check with your doctor first. + +Medicines + +If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine ivacaftor (approved for people with CF who are 6 years of age and older). + +Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral, inhaled, or intravenous (IV) antibiotics. + +Oral antibiotics often are used to treat mild lung infections. Inhaled antibiotics may be used to prevent or control infections caused by the bacteria mucoid Pseudomonas. For severe or hard-to-treat infections, you may be given antibiotics through an IV tube (a tube inserted into a vein). This type of treatment may require you to stay in a hospital. + +Anti-inflammatory medicines can help reduce swelling in your airways due to ongoing infections. These medicines may be inhaled or oral. + +Bronchodilators help open the airways by relaxing the muscles around them. These medicines are inhaled. They're often taken just before CPT to help clear mucus out of your airways. You also may take bronchodilators before inhaling other medicines into your lungs. + +Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms. + +Treatments for Advanced Lung Disease + +If you have advanced lung disease, you may need oxygen therapy. Oxygen usually is given through nasal prongs or a mask. + +If other treatments haven't worked, a lung transplant may be an option if you have severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor. + +Pulmonary Rehabilitation + +Your doctor may recommend PR as part of your treatment plan. PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. + +PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include: + +Exercise training + +Nutritional counseling + +Education on your lung disease or condition and how to manage it + +Energy-conserving techniques + +Breathing strategies + +Psychological counseling and/or group support + +PR has many benefits. It can improve your ability to function and your quality of life. The program also may help relieve your breathing problems. Even if you have advanced lung disease, you can still benefit from PR. + +For more information, go to the Health Topics Pulmonary Rehabilitation article. + +Treatment for Digestive Problems + +CF can cause many digestive problems, such as bulky stools, intestinal gas, a swollen belly, severe constipation, and pain or discomfort. Digestive problems also can lead to poor growth and development in children. + +Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs. + +In addition to having a well-balanced diet that's rich in calories, fat, and protein, your nutritional therapy may include: + +Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins. + +Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can't absorb. + +High-calorie shakes to provide you with extra nutrients. + +A high-salt diet or salt supplements that you take before exercising. + +A feeding tube to give you more calories at night while you're sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you'll attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep. + +Other treatments for digestive problems may include enemas and mucus-thinning medicines to treat intestinal blockages. Sometimes surgery is needed to remove an intestinal blockage. + +Your doctor also may prescribe medicines to reduce your stomach acid and help oral pancreatic enzymes work better. + +Treatments for Cystic Fibrosis Complications + +A common complication of CF is diabetes. The type of diabetes associated with CF often requires different treatment than other types of diabetes. + +Another common CF complication is the bone-thinning disorder osteoporosis. Your doctor may prescribe medicines that prevent your bones from losing their density.",NHLBI,Cystic Fibrosis +What is (are) Holes in the Heart ?,"Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart. + +The heart has two sides, separated by an inner wall called the septum. With each heartbeat, the right side of the heart receives oxygen-poor blood from the body and pumps it to the lungs. The left side of the heart receives oxygen-rich blood from the lungs and pumps it to the body. + +The septum prevents mixing of blood between the two sides of the heart. However, some babies are born with holes in the upper or lower septum. + +A hole in the septum between the heart's two upper chambers is called an atrial septal defect (ASD). A hole in the septum between the heart's two lower chambers is called a ventricular septal defect (VSD). + +ASDs and VSDs allow blood to pass from the left side of the heart to the right side. Thus, oxygen-rich blood mixes with oxygen-poor blood. As a result, some oxygen-rich blood is pumped to the lungs instead of the body. + +Over the past few decades, the diagnosis and treatment of ASDs and VSDs have greatly improved. Children who have simple congenital heart defects can survive to adulthood. They can live normal, active lives because their heart defects close on their own or have been repaired.",NHLBI,Holes in the Heart +What causes Holes in the Heart ?,"Mothers of children who are born with atrial septal defects (ASDs), ventricular septal defects (VSDs), or other heart defects may think they did something wrong during their pregnancies. However, most of the time, doctors don't know why congenital heart defects occur. + +Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect is slightly more likely than other people to have a child who has the problem. Very rarely, more than one child in a family is born with a heart defect. + +Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. Half of all babies who have Down syndrome have congenital heart defects. + +Smoking during pregnancy also has been linked to several congenital heart defects, including septal defects. + +Scientists continue to search for the causes of congenital heart defects.",NHLBI,Holes in the Heart +What are the symptoms of Holes in the Heart ?,"Atrial Septal Defect + +Many babies who are born with atrial septal defects (ASDs) have no signs or symptoms. However, as they grow, these children may be small for their age. + +When signs and symptoms do occur, a heart murmur is the most common. A heart murmur is an extra or unusual sound heard during a heartbeat. + +Often, a heart murmur is the only sign of an ASD. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs. Doctors can listen to heart murmurs and tell whether they're harmless or signs of heart problems. + +If a large ASD isn't repaired, the extra blood flow to the right side of the heart can damage the heart and lungs and cause heart failure. This generally doesn't occur until adulthood. Signs and symptoms of heart failure include: + +Fatigue (tiredness) + +Tiring easily during physical activity + +Shortness of breath + +A buildup of blood and fluid in the lungs + +Swelling in the ankles, feet, legs, abdomen, and veins in the neck + +Ventricular Septal Defect + +Babies born with ventricular septal defects (VSDs) usually have heart murmurs. Murmurs may be the first and only sign of a VSD. Heart murmurs often are present right after birth in many infants. However, the murmurs may not be heard until the babies are 6 to 8 weeks old. + +Most newborns who have VSDs don't have heart-related symptoms. However, babies who have medium or large VSDs can develop heart failure. Signs and symptoms of heart failure usually occur during the baby's first 2 months of life. + +The signs and symptoms of heart failure due to VSD are similar to those listed above for ASD, but they occur in infancy. + +A major sign of heart failure in infancy is poor feeding and growth. VSD signs and symptoms are rare after infancy. This is because the defects either decrease in size on their own or they're repaired.",NHLBI,Holes in the Heart +How to diagnose Holes in the Heart ?,"Doctors usually diagnose holes in the heart based on a physical exam and the results from tests and procedures. The exam findings for an atrial septal defect (ASD) often aren't obvious. Thus, the diagnosis sometimes isn't made until later in childhood or even in adulthood. + +Ventricular septal defects (VSDs) cause a very distinct heart murmur. Because of this, a diagnosis usually is made in infancy. + +Specialists Involved + +Doctors who specialize in diagnosing and treating heart problems are called cardiologists. Pediatric cardiologists take care of babies and children who have heart problems. Cardiac surgeons repair heart defects using surgery. + +Physical Exam + +During a physical exam, your child's doctor will listen to your child's heart and lungs with a stethoscope. The doctor also will look for signs of a heart defect, such as a heart murmur or signs of heart failure. + +Diagnostic Tests and Procedures + +Your child's doctor may recommend several tests to diagnose an ASD or VSD. These tests also will help the doctor figure out the location and size of the defect. + +Echocardiography + +Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. The sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. + +Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. + +Echo is an important test for both diagnosing a hole in the heart and following the problem over time. Echo can show problems with the heart's structure and how the heart is reacting to the problems. This test will help your child's cardiologist decide whether and when treatment is needed. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can detect whether one of the heart's chambers is enlarged, which can help diagnose a heart problem. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart, lungs, and blood vessels. + +This test can show whether the heart is enlarged. A chest x ray also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure. + +Pulse Oximetry + +Pulse oximetry shows the level of oxygen in the blood. A small sensor is attached to a finger or ear. The sensor uses light to estimate how much oxygen is in the blood. + +Cardiac Catheterization + +During cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. + +Special dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image. + +The doctor also can use cardiac catheterization to measure the pressure inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart. + +Doctors also use cardiac catheterization to repair some heart defects. For more information, go to ""How Are Holes in the Heart Treated?""",NHLBI,Holes in the Heart +What are the treatments for Holes in the Heart ?,"Many holes in the heart don't need treatment, but some do. Those that do often are repaired during infancy or early childhood. Sometimes adults are treated for holes in the heart if problems develop. + +The treatment your child receives depends on the type, location, and size of the hole. Other factors include your child's age, size, and general health. + +Treating an Atrial Septal Defect + +If a child has an atrial septal defect (ASD), routine checkups are done to see whether it closes on its own. About half of all ASDs close on their own over time, and about 20 percent close within the first year of life. + +Your child's doctor will let you know how often your child should have checkups. For an ASD, frequent checkups aren't needed. + +If an ASD requires treatment, catheter or surgical procedures are used to close the hole. Doctors often decide to close ASDs in children who still have medium- or large-sized holes by the time they're 2 to 5 years old. + +Catheter Procedure + +Until the early 1990s, surgery was the usual method for closing all ASDs. Now, thanks to medical advances, doctors can use catheter procedures to close secundum ASDs. These are the most common type of ASD. + +Before a catheter procedure, your child is given medicine so he or she will sleep and not feel any pain. Then, the doctor inserts a catheter (a thin, flexible tube) into a vein in the groin (upper thigh). He or she threads the tube to the heart's septum. A device made up of two small disks or an umbrella-like device is attached to the catheter. + +When the catheter reaches the septum, the device is pushed out of the catheter. The device is placed so that it plugs the hole between the atria. It's secured in place and the catheter is withdrawn from the body. + +Within 6 months, normal tissue grows in and over the device. The closure device does not need to be replaced as the child grows. + +Doctors often use echocardiography (echo), transesophageal (tranz-ih-sof-uh-JEE-ul) echo (TEE), and coronary angiography (an-jee-OG-rah-fee) to guide them in threading the catheter to the heart and closing the defect. TEE is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the passage leading from the mouth to the stomach. + +Catheter procedures are much easier on patients than surgery. They involve only a needle puncture in the skin where the catheter is inserted. This means that recovery is faster and easier. + +The outlook for children having this procedure is excellent. Closures are successful in more than 9 out of 10 patients, with no major leakage. Rarely, a defect is too large for catheter closure and surgery is needed. + +Surgery + +Open-heart surgery generally is done to repair primum or sinus venosus ASDs. Before the surgery, your child is given medicine so he or she will sleep and not feel any pain. + +Then, the cardiac surgeon makes an incision (cut) in the chest to reach the ASD. He or she repairs the defect with a special patch that covers the hole. A heart-lung bypass machine is used during the surgery so the surgeon can open the heart. The machine takes over the heart's pumping action and moves blood away from the heart. + +The outlook for children who have ASD surgery is excellent. On average, children spend 3 to 4 days in the hospital before going home. Complications, such as bleeding and infection, are very rare. + +In some children, the outer lining of the heart may become inflamed. This condition is called pericarditis (PER-i-kar-DI-tis). The inflammation causes fluid to collect around the heart in the weeks after surgery. Medicine usually can treat this condition. + +While in the hospital, your child will be given medicine as needed to reduce pain or anxiety. The doctors and nurses at the hospital will teach you how to care for your child at home. + +They will talk about preventing blows to the chest as the incision heals, limiting activity while your child recovers, bathing, scheduling ongoing care, and deciding when your child can go back to his or her regular activities. + +Treating a Ventricular Septal Defect + +Doctors may choose to monitor children who have ventricular septal defects (VSDs) but no symptoms of heart failure. This means regular checkups and tests to see whether the defect closes on its own or gets smaller. + +More than half of VSDs eventually close, usually by the time children are in preschool. Your child's doctor will let you know how often your child needs checkups. Checkups may range from once a month to once every 1 or 2 years. + +If treatment for a VSD is required, options include extra nutrition and surgery to close the VSD. Doctors also can use catheter procedures to close some VSDs. They may use this approach if surgery isn't possible or doesn't work. More research is needed to find out the risks and benefits of using catheter procedures to treat VSDs. + +Extra Nutrition + +Some infants who have VSDs don't grow and develop or gain weight as they should. These infants usually: + +Have large VSDs + +Are born too early + +Tire easily during feeding + +Doctors usually recommend extra nutrition or special feedings for these infants. These feedings are high-calorie formulas or breast milk supplements that give babies extra nourishment. + +Some infants need tube feeding. A small tube is inserted into the mouth and moved down into the stomach. Food is given through the tube. + +Tube feeding can add to or take the place of bottle feeding. This treatment often is short-term because a VSD that causes symptoms will likely require surgery. + +Surgery + +Most doctors recommend surgery to close large VSDs that are causing symptoms, affecting the aortic valve, or haven't closed by the time children are 1 year old. Surgery may be needed earlier if: + +A child doesn't gain weight + +Medicines are needed to control the symptoms of heart failure + +Rarely, medium-sized VSDs that are causing enlarged heart chambers are treated with surgery after infancy. However, most VSDs that require surgery are repaired in the first year of life. Doctors use open-heart surgery and patches to close VSDs.",NHLBI,Holes in the Heart +What is (are) Fanconi Anemia ?,"Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia. + +FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). + +Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. + +FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. + +Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems. + +Bone Marrow and Blood + +Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs: + +Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. + +White blood cells, which help fight infections. + +Platelets (PLATE-lets), which help your blood clot. + +It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. + +If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur. + +Fanconi Anemia and Your Body + +FA is one of many types of anemia. The term ""anemia"" usually refers to a condition in which the blood has a lower than normal number of red blood cells. + +FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems. + +With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems. + +Outlook + +People who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia. + +People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors. + +The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.) + +Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs. + +FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors. + +Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.",NHLBI,Fanconi Anemia +What causes Fanconi Anemia ?,"Fanconi anemia (FA) is an inherited disease. The term inherited means that the disease is passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs when both parents pass the same faulty FA gene to their child. + +People who have only one faulty FA gene are FA ""carriers."" Carriers don't have FA, but they can pass the faulty gene to their children. + +If both of your parents have a faulty FA gene, you have: + +A 25 percent chance of having FA + +A 25 percent chance of not having FA + +A 50 percent chance of being an FA carrier and passing the gene to any children you have + +If only one of your parents has a faulty FA gene, you won't have the disorder. However, you have a 50 percent chance of being an FA carrier and passing the gene to any children you have.",NHLBI,Fanconi Anemia +Who is at risk for Fanconi Anemia? ?,"Fanconi anemia (FA) occurs in all racial and ethnic groups and affects men and women equally. + +In the United States, about 1 out of every 181 people is an FA carrier. This carrier rate leads to about 1 in 130,000 people being born with FA. + +Two ethnic groups, Ashkenazi Jews and Afrikaners, are more likely than other groups to have FA or be FA carriers. + +Ashkenazi Jews are people who are descended from the Jewish population of Eastern Europe. Afrikaners are White natives of South Africa who speak a language called Afrikaans. This ethnic group is descended from early Dutch, French, and German settlers. + +In the United States, 1 out of 90 Ashkenazi Jews is an FA carrier, and 1 out of 30,000 is born with FA. + +Major Risk Factors + +FA is an inherited diseasethat is, it's passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs if both parents pass the same faulty FA gene to their child. + +Children born into families with histories of FA are at risk of inheriting the disorder. Children whose mothers and fathers both have family histories of FA are at even greater risk. A family history of FA means that it's possible that a parent carries a faulty gene associated with the disorder. + +Children whose parents both carry the same faulty gene are at greatest risk of inheriting FA. Even if these children aren't born with FA, they're still at risk of being FA carriers. + +Children who have only one parent who carries a faulty FA gene also are at risk of being carriers. However, they're not at risk of having FA.",NHLBI,Fanconi Anemia +What are the symptoms of Fanconi Anemia ?,"Major Signs and Symptoms + +Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of: + +Anemia + +Bone marrow failure + +Birth defects + +Developmental or eating problems + +FA is an inherited disorderthat is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder. + +Anemia + +The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities. + +A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain. + +Bone Marrow Failure + +When your bone marrow fails, it can't make enough red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms. + +With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for the cells to work well. + +With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal. + +With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots. + +In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough normal blood cells. + +A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML). + +Birth Defects + +Many birth defects can be signs of FA. These include: + +Bone or skeletal defects. FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. People who have FA may have a curved spine, a condition called scoliosis (sco-le-O-sis). + +Eye and ear defects. The eyes, eyelids, and ears may not have a normal shape. Children who have FA also might be born deaf. + +Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin. + +Kidney problems. A child who has FA might be born with a missing kidney or kidneys that aren't shaped normally. + +Congenital heart defects. The most common congenital heart defect linked to FA is a ventricular septal defect (VSD). A VSD is a hole or defect in the lower part of the wall that separates the hearts left and right chambers. + +Developmental Problems + +Other signs and symptoms of FA are related to physical and mental development. They include: + +Low birth weight + +Poor appetite + +Delayed growth + +Below-average height + +Small head size + +Mental retardation or learning disabilities + +Signs and Symptoms of Fanconi Anemia in Adults + +Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may have some or all of the following: + +Sex organs that are less developed than normal + +Menstruating later than women who don't have FA + +Starting menopause earlier than women who don't have FA + +Problems getting pregnant and carrying a pregnancy to full term + +Men who have FA may have sex organs that are less developed than normal. They also may be less fertile than men who don't have the disease.",NHLBI,Fanconi Anemia +How to diagnose Fanconi Anemia ?,"People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years. + +The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis. + +Specialists Involved + +A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes. + +Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it. + +An obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women. + +After your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens. + +A hematologist (blood disease specialist) also may help diagnose FA. + +Family and Medical Histories + +FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease. + +Other parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children. + +Knowing your family medical history can help your doctor diagnose whether you or your child has FA or another condition with similar symptoms. + +If your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about: + +Any personal or family history of anemia + +Any surgeries youve had related to the digestive system + +Any personal or family history of immune disorders + +Your appetite, eating habits, and any medicines you take + +If you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing. + +Diagnostic Tests and Procedures + +The signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following. + +Chromosome Breakage Test + +This is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal. + +Skin cells sometimes are used for the test. Usually, though, a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals. + +If you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA. + +Cytometric Flow Analysis + +Cytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells are used for this test. + +A technician mixes the skin cells with chemicals that can cause the chromosomes in the cells to act abnormally. If you have FA, your cells are much more sensitive to these chemicals. + +The chromosomes in your skin cells will break at a high rate during the test. This doesn't happen in the cells of people who don't have FA. + +Mutation Screening + +A mutation is an abnormal change in a gene or genes. Geneticists and other specialists can examine your genes, usually using a sample of your skin cells. With special equipment and lab processes, they can look for gene mutations that are linked to FA. + +Diagnosing Different Age Groups + +Before Birth (Prenatal) + +If your family has a history of FA and you get pregnant, your doctor may want to test you or your fetus for FA. + +Two tests can be used to diagnose FA in a developing fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital. + +Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period. A doctor uses a needle to remove a small amount of fluid from the sac around the fetus. A technician tests chromosomes (chains of genes) from the fluid sample to see whether they have faulty genes associated with FA. + +CVS is done 10 to 12 weeks after a pregnant woman's last period. A doctor inserts a thin tube through the vagina and cervix to the placenta (the temporary organ that connects the fetus to the mother). + +The doctor removes a tissue sample from the placenta using gentle suction. The tissue sample is sent to a lab to be tested for genetic defects associated with FA. + +At Birth + +Three out of four people who inherit FA are born with birth defects. If your baby is born with certain birth defects, your doctor may recommend genetic testing to confirm a diagnosis of FA. + +For more information about these defects, go to What Are the Signs and Symptoms of Fanconi Anemia? + +Childhood and Later + +Some people who have FA are not born with birth defects. Doctors may not diagnose them with the disorder until signs of bone marrow failure or cancer occur. This usually happens within the first 10 years of life. + +Signs of bone marrow failure most often begin between the ages of 3 and 12 years, with 7 to 8 years as the most common ages. However, 10 percent of children who have FA aren't diagnosed until after 16 years of age. + +If your bone marrow is failing, you may have signs of aplastic anemia. FA is one type of aplastic anemia. + +In aplastic anemia, your bone marrow stops making or doesn't make enough of all three types of blood cells: red blood cells, white blood cells, and platelets. + +Aplastic anemia can be inherited or acquired after birth through exposure to chemicals, radiation, or medicines. + +Doctors diagnose aplastic anemia using: + +Family and medical histories and a physical exam. + +A complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets. + +A reticulocyte (re-TIK-u-lo-site) count. This test counts the number of new red blood cells in your blood to see whether your bone marrow is making red blood cells at the proper rate. + +Bone marrow tests. For a bone marrow aspiration, a small amount of liquid bone marrow is removed and tested to see whether it's making enough blood cells. For a bone marrow biopsy, a small amount of bone marrow tissue is removed and tested to see whether it's making enough blood cells. + +If you or your child is diagnosed with aplastic anemia, your doctor will want to find the cause. If your doctor suspects you have FA, he or she may recommend genetic testing. + +For more information, go to the Health Topics Aplastic Anemia article.",NHLBI,Fanconi Anemia +What are the treatments for Fanconi Anemia ?,"Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well the person's bone marrow is making new blood cells. + +Goals of Treatment + +Long-term treatments for FA can: + +Cure the anemia. Damaged bone marrow cells are replaced with healthy ones that can make enough of all three types of blood cells on their own. + +Or + +Treat the symptoms without curing the cause. This is done using medicines and other substances that can help your body make more blood cells for a limited time. + +Screening and Short-Term Treatment + +Even if you or your child has FA, your bone marrow might still be able to make enough new blood cells. If so, your doctor might suggest frequent blood count checks so he or she can watch your condition. + +Your doctor will probably want you to have bone marrow tests once a year. He or she also will screen you for any signs of cancer or tumors. + +If your blood counts begin to drop sharply and stay low, your bone marrow might be failing. Your doctor may prescribe antibiotics to help your body fight infections. In the short term, he or she also may want to give you blood transfusions to increase your blood cell counts to normal levels. + +However, long-term use of blood transfusions can reduce the chance that other treatments will work. + +Long-Term Treatment + +The four main types of long-term treatment for FA are: + +Blood and marrow stem cell transplant + +Androgen therapy + +Synthetic growth factors + +Gene therapy + +Blood and Marrow Stem Cell Transplant + +A blood and marrow stem cell transplant is the current standard treatment for patients who have FA that's causing major bone marrow failure. Healthy stem cells from another person, called a donor, are used to replace the faulty cells in your bone marrow. + +If you're going to receive stem cells from another person, your doctor will want to find a donor whose stem cells match yours as closely as possible. + +Stem cell transplants are most successful in younger people who: + +Have few or no serious health problems + +Receive stem cells from a brother or sister who is a good donor match + +Have had few or no previous blood transfusions + +During the transplant, you'll get donated stem cells in a procedure that's like a blood transfusion. Once the new stem cells are in your body, they travel to your bone marrow and begin making new blood cells. + +A successful stem cell transplant will allow your body to make enough of all three types of blood cells. + +Even if you've had a stem cell transplant to treat FA, youre still at risk for some types of blood cancer and cancerous solid tumors. Your doctor will check your health regularly after the procedure. + +For more information about stem cell transplantsincluding finding a donor, having the procedure, and learning about the risksgo to the Health Topics Blood and Marrow Stem Cell Transplant article. + +Androgen Therapy + +Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people who had FA. Androgens are man-made male hormones that can help your body make more blood cells for long periods. + +Androgens increase your red blood cell and platelet counts. They don't work as well at raising your white blood cell count. + +Unlike a stem cell transplant, androgens don't allow your bone marrow to make enough of all three types of blood cells on its own. You may need ongoing treatment with androgens to control the effects of FA. + +Also, over time, androgens lose their ability to help your body make more blood cells, which means you'll need other treatments. + +Androgen therapy can have serious side effects, such as liver disease. This treatment also can't prevent you from developing leukemia (a type of blood cancer). + +Synthetic Growth Factors + +Your doctor may choose to treat your FA with growth factors. These are substances found in your body, but they also can be man-made. + +Growth factors help your body make more red and white blood cells. Growth factors that help your body make more platelets still are being studied. + +More research is needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens. + +Gene Therapy + +Researchers are looking for ways to replace faulty FA genes with normal, healthy genes. They hope these genes will make proteins that can repair and protect your bone marrow cells. Early results of this therapy hold promise, but more research is needed. + +Surgery + +FA can cause birth defects that affect the arms, thumbs, hips, legs, and other parts of the body. Doctors may recommend surgery to repair some defects. + +For example, your child might be born with a ventricular septal defecta hole or defect in the wall that separates the lower chambers of the heart. His or her doctor may recommend surgery to close the hole so the heart can work properly. + +Children who have FA also may need surgery to correct digestive system problems that can harm their nutrition, growth, and survival. + +One of the most common problems is an FA-related birth defect in which the trachea (windpipe), which carries air to the lungs, is connected to the esophagus, which carries food to the stomach. + +This can cause serious breathing, swallowing, and eating problems and can lead to lung infections. Surgery is needed to separate the two organs and allow normal eating and breathing.",NHLBI,Fanconi Anemia +How to prevent Fanconi Anemia ?,"ou can't prevent Fanconi anemia (FA) because it's an inherited disease. If a child gets two copies of the same faulty FA gene, he or she will have the disease. + +If you're at high risk for FA and are planning to have children, you may want to consider genetic counseling. A counselor can help you understand your risk of having a child who has FA. He or she also can explain the choices that are available to you. + +If you're already pregnant, genetic testing can show whether your child has FA. For more information on genetic testing, go to ""How Is Fanconi Anemia Diagnosed?"" + +In the United States, Ashkenazi Jews (Jews of Eastern European descent) are at higher risk for FA than other ethnic groups. For Ashkenazi Jews, it's recommended that prospective parents get tested for FA-related gene mutations before getting pregnant. + +Preventing Complications + +If you or your child has FA, you can prevent some health problems related to the disorder. Pneumonia, hepatitis, and chicken pox can occur more often and more severely in people who have FA compared with those who don't. Ask your doctor about vaccines for these conditions. + +People who have FA also are at higher risk than other people for some cancers. These cancers include leukemia (a type of blood cancer), myelodysplastic syndrome (abnormal levels of all three types of blood cells), and liver cancer. Screening and early detection can help manage these life-threatening diseases.",NHLBI,Fanconi Anemia +What is (are) Antiphospholipid Antibody Syndrome ?,"Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies that attack and damage tissues or cells. + +Antibodies are a type of protein. They usually help defend the body against infections. In APS, however, the body makes antibodies that mistakenly attack phospholipidsa type of fat. + +Phospholipids are found in all living cells and cell membranes, including blood cells and the lining of blood vessels. + +When antibodies attack phospholipids, cells are damaged. This damage causes blood clots to form in the body's arteries and veins. (These are the vessels that carry blood to your heart and body.) + +Usually, blood clotting is a normal bodily process. Blood clots help seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body's organs. + +Overview + +Some people have APS antibodies, but don't ever have signs or symptoms of the disorder. Having APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. + +APS can lead to many health problems, such as stroke, heart attack, kidney damage, deep vein thrombosis (throm-BO-sis), and pulmonary embolism (PULL-mun-ary EM-bo-lizm). + +APS also can cause pregnancy-related problems, such as multiple miscarriages, a miscarriage late in pregnancy, or a premature birth due to eclampsia (ek-LAMP-se-ah). (Eclampsia, which follows preeclampsia, is a serious condition that causes seizures in pregnant women.) + +Very rarely, some people who have APS develop many blood clots within weeks or months. This condition is called catastrophic antiphospholipid syndrome (CAPS). + +People who have APS also are at higher risk for thrombocytopenia (THROM-bo-si-to-PE-ne-ah). This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets). Antibodies destroy the platelets, or theyre used up during the clotting process. Mild to serious bleeding can occur with thrombocytopenia. + +APS can be fatal. Death may occur as a result of large blood clots or blood clots in the heart, lungs, or brain. + +Outlook + +APS can affect people of any age. However, it's more common in women and people who have other autoimmune or rheumatic (ru-MAT-ik) disorders, such as lupus. (""Rheumatic"" refers to disorders that affect the joints, bones, or muscles.) + +APS has no cure, but medicines can help prevent its complications. Medicines are used to stop blood clots from forming. They also are used to keep existing clots from getting larger. Treatment for APS is long term. + +If you have APS and another autoimmune disorder, it's important to control that condition as well. When the other condition is controlled, APS may cause fewer problems.",NHLBI,Antiphospholipid Antibody Syndrome +What causes Antiphospholipid Antibody Syndrome ?,"Antiphospholipid antibody syndrome (APS) occurs if the body's immune system makes antibodies (proteins) that attack phospholipids. + +Phospholipids are a type of fat found in all living cells and cell membranes, including blood cells and the lining of blood vessels. What causes the immune system to make antibodies against phospholipids isn't known. + +APS causes unwanted blood clots to form in the body's arteries and veins. Usually, blood clotting is a normal bodily process. It helps seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body's organs. + +Researchers don't know why APS antibodies cause blood clots to form. Some believe that the antibodies damage or affect the inner lining of the blood vessels, which causes blood clots to form. Others believe that the immune system makes antibodies in response to blood clots damaging the blood vessels.",NHLBI,Antiphospholipid Antibody Syndrome +Who is at risk for Antiphospholipid Antibody Syndrome? ?,"Antiphospholipid antibody syndrome (APS) can affect people of any age. The disorder is more common in women than men, but it affects both sexes. + +APS also is more common in people who have other autoimmune or rheumatic disorders, such as lupus. (""Rheumatic"" refers to disorders that affect the joints, bones, or muscles.) + +About 10 percent of all people who have lupus also have APS. About half of all people who have APS also have another autoimmune or rheumatic disorder. + +Some people have APS antibodies, but don't ever have signs or symptoms of the disorder. The mere presence of APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. + +However, people who have APS antibodies but no signs or symptoms are at risk of developing APS. Health problems, other than autoimmune disorders, that can trigger blood clots include: + +Smoking + +Prolonged bed rest + +Pregnancy and the postpartum period + +Birth control pills and hormone therapy + +Cancer and kidney disease",NHLBI,Antiphospholipid Antibody Syndrome +What are the symptoms of Antiphospholipid Antibody Syndrome ?,"The signs and symptoms of antiphospholipid antibody syndrome (APS) are related to abnormal blood clotting. The outcome of a blood clot depends on its size and location. + +Blood clots can form in, or travel to, the arteries or veins in the brain, heart, kidneys, lungs, and limbs. Clots can reduce or block blood flow. This can damage the body's organs and may cause death. + +Major Signs and Symptoms + +Major signs and symptoms of blood clots include: + +Chest pain and shortness of breath + +Pain, redness, warmth, and swelling in the limbs + +Ongoing headaches + +Speech changes + +Upper body discomfort in the arms, back, neck, and jaw + +Nausea (feeling sick to your stomach) + +Blood clots can lead to stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism. + +Pregnant women who have APS can have successful pregnancies. However, they're at higher risk for miscarriages, stillbirths, and other pregnancy-related problems, such as preeclampsia (pre-e-KLAMP-se-ah). + +Preeclampsia is high blood pressure that occurs during pregnancy. This condition may progress to eclampsia. Eclampsia is a serious condition that causes seizures in pregnant women. + +Some people who have APS may develop thrombocytopenia. This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets. + +Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside the body (internal bleeding) or underneath or from the skin (external bleeding). + +Other Signs and Symptoms + +Other signs and symptoms of APS include chronic (ongoing) headaches, memory loss, and heart valve problems. Some people who have APS also get a lacy-looking red rash on their wrists and knees.",NHLBI,Antiphospholipid Antibody Syndrome +How to diagnose Antiphospholipid Antibody Syndrome ?,"Your doctor will diagnose antiphospholipid antibody syndrome (APS) based on your medical history and the results from blood tests. + +Specialists Involved + +A hematologist often is involved in the care of people who have APS. This is a doctor who specializes in diagnosing and treating blood diseases and disorders. + +You may have APS and another autoimmune disorder, such as lupus. If so, a doctor who specializes in that disorder also may provide treatment. + +Many autoimmune disorders that occur with APS also affect the joints, bones, or muscles. Rheumatologists specialize in treating these types of disorders. + +Medical History + +Some people have APS antibodies but no signs or symptoms of the disorder. Having APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. + +APS can lead to many health problems, including stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism. + +APS also can cause pregnancy-related problems, such as multiple miscarriages, a miscarriage late in pregnancy, or a premature birth due to eclampsia. (Eclampsia, which follows preeclampsia, is a serious condition that causes seizures in pregnant women.) + +Blood Tests + +Your doctor can use blood tests to confirm a diagnosis of APS. These tests check your blood for any of the three APS antibodies: anticardiolipin, beta-2 glycoprotein I (2GPI), and lupus anticoagulant. + +The term ""anticoagulant"" (AN-te-ko-AG-u-lant) refers to a substance that prevents blood clotting. It may seem odd that one of the APS antibodies is called lupus anticoagulant. The reason for this is because the antibody slows clotting in lab tests. However, in the human body, it increases the risk of blood clotting. + +To test for APS antibodies, a small blood sample is taken. It's often drawn from a vein in your arm using a needle. The procedure usually is quick and easy, but it may cause some short-term discomfort and a slight bruise. + +You may need a second blood test to confirm positive results. This is because a single positive test can result from a short-term infection. The second blood test often is done 12 weeks or more after the first one.",NHLBI,Antiphospholipid Antibody Syndrome +What are the treatments for Antiphospholipid Antibody Syndrome ?,"Antiphospholipid antibody syndrome (APS) has no cure. However, medicines can help prevent complications. The goals of treatment are to prevent blood clots from forming and keep existing clots from getting larger. + +You may have APS and another autoimmune disorder, such as lupus. If so, it's important to control that condition as well. When the other condition is controlled, APS may cause fewer problems. + +Research is ongoing for new ways to treat APS. + +Medicines + +Anticoagulants, or ""blood thinners,"" are used to stop blood clots from forming. They also may keep existing blood clots from getting larger. These medicines are taken as either a pill, an injection under the skin, or through a needle or tube inserted into a vein (called intravenous, or IV, injection). + +Warfarin and heparin are two blood thinners used to treat APS. Warfarin is given in pill form. (Coumadin is a common brand name for warfarin.) Heparin is given as an injection or through an IV tube. There are different types of heparin. Your doctor will discuss the options with you. + +Your doctor may treat you with both heparin and warfarin at the same time. Heparin acts quickly. Warfarin takes 2 to 3 days before it starts to work. Once the warfarin starts to work, the heparin is stopped. + +Aspirin also thins the blood and helps prevent blood clots. Sometimes aspirin is used with warfarin. Other times, aspirin might be used alone. + +Blood thinners don't prevent APS. They simply reduce the risk of further blood clotting. Treatment with these medicines is long term. Discuss all treatment options with your doctor. + +Side Effects + +The most common side effect of blood thinners is bleeding. This happens if the medicine thins your blood too much. This side effect can be life threatening. + +Sometimes the bleeding is internal (inside your body). People treated with blood thinners usually need regular blood tests, called PT and PTT tests, to check how well their blood is clotting. + +These tests also show whether you're taking the right amount of medicine. Your doctor will check to make sure that you're taking enough medicine to prevent clots, but not so much that it causes bleeding. + +Talk with your doctor about the warning signs of internal bleeding and when to seek emergency care. (For more information, go to ""Living With Antiphospholipid Antibody Syndrome."") + +Treatment During Pregnancy + +Pregnant women who have APS can have successful pregnancies. With proper treatment, these women are more likely to carry their babies to term. + +Pregnant women who have APS usually are treated with heparin or heparin and low-dose aspirin. Warfarin is not used as a treatment during pregnancy because it can harm the fetus. + +Babies whose mothers have APS are at higher risk for slowed growth while in the womb. If you're pregnant and have APS, you may need to have extra ultrasound tests (sonograms) to check your babys growth. An ultrasound test uses sound waves to look at the growing fetus. + +Treatment for Other Medical Conditions + +People who have APS are at increased risk for thrombocytopenia. This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets. Platelets help the blood clot. + +If you have APS, you'll need regular complete blood counts (a type of blood test) to count the number of platelets in your blood. + +Thrombocytopenia is treated with medicines and medical procedures. For more information, go to the Health Topics Thrombocytopenia article. + +If you have other health problems, such as heart disease or diabetes, work with your doctor to manage them.",NHLBI,Antiphospholipid Antibody Syndrome +What is (are) Mitral Valve Prolapse ?,"Mitral valve prolapse (MVP) is a condition in which the hearts mitral valve doesnt work well. The flaps of the valve are floppy and may not close tightly. These flaps normally help seal or open the valve. + +Much of the time, MVP doesnt cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can lead topalpitations, shortness of breath, chest pain, and other symptoms. (Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast.) + +Normal Mitral Valve + +The mitral valve controls blood flow between the upper and lower chambers of the left side of the heart. The upper chamber is called the left atrium. The lower chamber is called the left ventricle. + +The mitral valve allows blood to flow from the left atrium into the left ventricle, but not back the other way. The heart also has a right atrium and ventricle, separated by the tricuspid valve. + +With each heartbeat, the atria contract and push blood into the ventricles. The flaps of the mitral and tricuspid valves open to let blood through. Then, the ventricles contract to pump the blood out of the heart. + +When the ventricles contract, the flaps of the mitral and tricuspid valves close. They form a tight seal that prevents blood from flowing back into the atria. + +For more information, go to the Health TopicsHow the Heart Worksarticle. This article contains animations that show how your heart pumps blood and how your hearts electrical system works. + +Mitral Valve Prolapse + +In MVP, when the left ventricle contracts, one or both flaps of the mitral valve flop or bulge back (prolapse) into the left atrium. This can prevent the valve from forming a tight seal. As a result, blood may leak from the ventricle back into the atrium. The backflow of blood is called regurgitation. + +MVP doesnt always cause backflow. In fact, most people who have MVP dont have backflow and never have any related symptoms or problems. When backflow occurs, it can get worse over time and itcan change the hearts size and raise pressure in the left atrium and lungs. Backflow also raises the risk of heart valve infections. + +Medicines can treat troublesome MVP symptoms and help prevent complications. Some people will need surgery to repair or replace their mitral valves. + +Mitral Valve Prolapse",NHLBI,Mitral Valve Prolapse +What causes Mitral Valve Prolapse ?,"The exact cause of mitral valve prolapse (MVP) isn't known. Most people who have the condition are born with it. MVP tends to run in families. Also, it's more common in people who are born with connective tissue disorders, such as Marfan syndrome. + +In people who have MVP, the mitral valve may be abnormal in the following ways: + +The valve flaps may be too large and thick. + +The valve flaps may be ""floppy."" The tissue of the flaps and their supporting ""strings"" are too stretchy, and parts of the valve flop or bulge back into the atrium. + +The opening of the valve may stretch. + +These problems can keep the valve from making a tight seal. Some people's valves are abnormal in more than one way.",NHLBI,Mitral Valve Prolapse +Who is at risk for Mitral Valve Prolapse? ?,"Mitral valve prolapse (MVP) affects people of all ages and both sexes; however, aging raises the risk of developing the disease. + +Certain conditions have been associated with MVP, including: + +A history of rheumatic fever + +Connective tissue disorders, such as Marfan syndrome or Ehlers-Danlos syndrome + +Graves disease + +Scoliosis and other skeletal problems + +Some types of muscular dystrophy",NHLBI,Mitral Valve Prolapse +What are the symptoms of Mitral Valve Prolapse ?,"Most people who have mitral valve prolapse (MVP) aren't affected by the condition. They don't have any symptoms or major mitral valve backflow. + +When MVP does cause signs and symptoms, they may include: + +Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) + +Shortness of breath + +Cough + +Fatigue (tiredness), dizziness, or anxiety + +Migraine headaches + +Chest discomfort + +MVP symptoms can vary from one person to another. They tend to be mild but can worsen over time, mainly when complications occur. + +Mitral Valve Prolapse Complications + +MVP complications are rare. When present, they're most often caused by the backflow of blood through the mitral valve. + +Mitral valve backflow is most common among men and people who have high blood pressure. People who have severe backflow may need valve surgery to prevent complications. + +Mitral valve backflow causes blood to flow from the left ventricle back into the left atrium. Blood can even back up from the atrium into the lungs, causing shortness of breath. + +The backflow of blood strains the muscles of both the atrium and the ventricle. Over time, the strain can lead to arrhythmias. Backflow also increases the risk of infective endocarditis (IE). IE is an infection of the inner lining of your heart chambers and valves. + +Arrhythmias + +Arrhythmias are problems with the rate or rhythm of the heartbeat. The most common types of arrhythmias are harmless. Other arrhythmias can be serious or even life threatening, such as ventricular arrhythmias. + +If the heart rate is too slow, too fast, or irregular, the heart may not be able to pump enough blood to the body. Lack of blood flow can damage the brain, heart, and other organs. + +One troublesome arrhythmia that MVP can cause is atrial fibrillation (AF). In AF, the walls of the atria quiver instead of beating normally. As a result, the atria aren't able to pump blood into the ventricles the way they should. + +AF is bothersome but rarely life threatening, unless the atria contract very fast or blood clots form in the atria. Blood clots can occur because some blood ""pools"" in the atria instead of flowing into the ventricles. If a blood clot breaks off and travels through the bloodstream, it can reach the brain and cause a stroke. + +Infection of the Mitral Valve + +A deformed mitral valve flap can attract bacteria in the bloodstream. The bacteria attach to the valve and can cause a serious infection called infective endocarditis (IE). Signs and symptoms of a bacterial infection include fever, chills, body aches, and headaches. + +IE doesn't happen often, but when it does, it's serious. MVP is the most common heart condition that puts people at risk for this infection. + +If you have MVP, you can take steps to prevent IE. Floss and brush your teeth regularly. Gum infections and tooth decay can cause IE.",NHLBI,Mitral Valve Prolapse +How to diagnose Mitral Valve Prolapse ?,"Mitral valve prolapse (MVP) most often is detected during a routine physical exam. During the exam, your doctor will listen to your heart with a stethoscope. + +Stretched valve flaps can make a clicking sound as they shut. If the mitral valve is leaking blood back into the left atrium, your doctor may heart a heart murmur or whooshing sound. + +However, these abnormal heart sounds may come and go. Your doctor may not hear them at the time of an exam, even if you have MVP. Thus, you also may have tests and procedures to diagnose MVP. + +Diagnostic Tests and Procedures + +Echocardiography + +Echocardiography (echo) is the most useful test for diagnosing MVP. This painless test uses sound waves to create a moving picture of your heart. + +Echo shows the size and shape of your heart and how well your heart chambers and valves are working. The test also can show areas of heart muscle that aren't contracting normally because of poor blood flow or injury to the heart muscle. + +Echo can show prolapse of the mitral valve flaps and backflow of blood through the leaky valve. + +There are several types of echo, including stress echo. Stress echo is done before and after a stress test. During a stress test, you exercise or take medicine (given by your doctor) to make your heart work hard and beat fast. + +You may have stress echo to find out whether you have decreased blood flow to your heart (a sign of coronary heart disease). + +Echo also can be done by placing a tiny probe in your esophagus to get a closer look at the mitral valve. The esophagus is the passage leading from your mouth to your stomach. + +The probe uses sound waves to create pictures of your heart. This form of echo is called transesophageal (tranz-ih-sof-uh-JEE-ul) echocardiography, or TEE. + +Doppler Ultrasound + +A Doppler ultrasound is part of an echo test. A Doppler ultrasound shows the speed and direction of blood flow through the mitral valve. + +Other Tests + +Other tests that can help diagnose MVP include: + +A chest x ray. This test is used to look for fluid in your lungs or to show whether your heart is enlarged. + +An EKG (electrocardiogram). An EKG is a simple test that records your heart's electrical activity. An EKG can show how fast your heart is beating and whether its rhythm is steady or irregular. This test also records the strength and timing of electrical signals as they pass through your heart.",NHLBI,Mitral Valve Prolapse +What are the treatments for Mitral Valve Prolapse ?,"Most people who have mitral valve prolapse (MVP) dont need treatment because they dont have symptoms and complications. + +Even people who do have symptoms may not need treatment. The presence of symptoms doesnt always mean that the backflow of blood through the valve is significant. + +People who have MVP and troublesome mitral valve backflow may be treated with medicines, surgery, or both. + +The goals of treating MVP include: + +Correcting the underlying mitral valve problem, if necessary + +Preventinginfective endocarditis,arrhythmias, and other complications + +Relieving symptoms + +Medicines + +Medicines called beta blockers may be used to treatpalpitationsand chest discomfort in people who have little or no mitral valve backflow. + +If you have significant backflow and symptoms, your doctor may prescribe: + +Blood-thinning medicines to reduce the risk of blood clots forming if you haveatrial fibrillation. + +Digoxin to strengthen your heartbeat. + +Diuretics (fluidpills) to remove excess sodium and fluid in your body and lungs. + +Medicines such as flecainide and procainamide to regulate your heart rhythms. + +Vasodilators to widen your blood vessels and reduce your hearts workload. Examples of vasodilators are isosorbide dinitrate and hydralazine. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. + +Surgery + +Surgery is done only if the mitral valve is very abnormal and blood is flowing back into the atrium. The main goal of surgery is to improve symptoms and reduce the risk ofheart failure. + +The timing of the surgery is important. If its done too early and your leaking valve is working fairly well, you may be put at needless risk from surgery. If its done too late, you may have heart damage that can't be fixed. + +Surgical Approaches + +Traditionally, heart surgeons repair or replace a mitral valve by making an incision (cut) in the breastbone and exposing the heart. + +A small but growing number of surgeons are using another approach that involves one or more small cuts through the side of the chest wall. This results in less cutting, reduced blood loss, and a shorter hospital stay. However, not all hospitals offer this method. + +Valve Repair and Valve Replacement + +In mitral valve surgery, the valve is repaired or replaced. Valve repair is preferred when possible. Repair is less likely than replacement to weaken the heart. Repair also lowers the risk of infection and decreases the need for lifelong use of blood-thinning medicines. + +If repair isnt an option, the valve can be replaced. Mechanical and biological valves are used as replacement valves. + +Mechanical valves are man-made and can last a lifetime. People who have mechanical valves must take blood-thinning medicines for the rest of their lives. + +Biological valves are taken from cows or pigs or made from human tissue. Many people who have biological valves dont need to take blood-thinning medicines for the rest of their lives. The major drawback of biological valves is that they weaken over time and often last only about 10 years. + +After surgery, youll likely stay in the hospitals intensive care unit for 2 to 3 days. Overall, most people who have mitral valve surgery spend about 1 to 2 weeks in the hospital. Complete recovery takes a few weeks to several months, depending on your health before surgery. + +If youve had valve repair or replacement, you may need antibiotics before dental work and surgery. These procedures can allow bacteria to enter your bloodstream. Antibiotics can help prevent infective endocarditis, a serious heart valve infection. Discuss with your doctor whether you need to take antibiotics before such procedures. + +Transcatheter Valve Therapy + +Interventional cardiologists may be able to repair leaky mitral valves by implanting a device using a catheter (tube) inserted through a large blood vessel. This approach is less invasive and can prevent a person from havingopen-heart surgery. At present, the device is only approved for people with severe mitral regurgitation who cannot undergo surgery.",NHLBI,Mitral Valve Prolapse +How to prevent Mitral Valve Prolapse ?,"You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it. + +Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves. + +People at high risk for IE may be given antibiotics before some types of surgery and dental work. Antibiotics can help prevent IE. Your doctor will tell you whether you need this type of treatment. + +People at high risk for IE may include those who've had valve repair or replacement or who have some types of underlying heart disease.",NHLBI,Mitral Valve Prolapse +What is (are) Cough ?,"A cough is a natural reflex that protects your lungs. Coughing helps clear your airways of lung irritants, such as smoke and mucus (a slimy substance). This helps prevent infections. A cough also can be a symptom of a medical problem. + +Prolonged coughing can cause unpleasant side effects, such as chest pain, exhaustion, light-headedness, and loss of bladder control. Coughing also can interfere with sleep, socializing, and work. + +Overview + +Coughing occurs when the nerve endings in your airways become irritated. The airways are tubes that carry air into and out of your lungs. Certain substances (such as smoke and pollen), medical conditions, and medicines can irritate these nerve endings. + +A cough can be acute, subacute, or chronic, depending on how long it lasts. + +An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory (RES-pi-rah-tor-e) infections. Examples of other upper respiratory infections include the flu, pneumonia (nu-MO-ne-ah), and whooping cough. + +A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over. + +A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS); asthma; and gastroesophageal (GAS-tro-eh-so-fa-JE-al) reflux disease, or GERD. + +""UACS"" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus to run down your throat from the back of your nose. This is called postnasal drip. + +Asthma is a long-term lung disease that inflames and narrows the airways. GERD occurs if acid from your stomach backs up into your throat. + +Outlook + +The best way to treat a cough is to treat its cause. For example, asthma is treated with medicines that open the airways. + +Your doctor may recommend cough medicine if the cause of your cough is unknown and the cough causes a lot of discomfort. Cough medicines may harm children. If your child has a cough, talk with his or her doctor about how to treat it.",NHLBI,Cough +What causes Cough ?,"Coughing occurs when the nerve endings in your airways become irritated. Certain irritants and allergens, medical conditions, and medicines can irritate these nerve endings. + +Irritants and Allergens + +An irritant is something you're sensitive to. For example, smoking or inhaling secondhand smoke can irritate your lungs. Smoking also can lead to medical conditions that can cause a cough. Other irritants include air pollution, paint fumes, or scented products like perfumes or air fresheners. + +An allergen is something you're allergic to, such as dust, animal dander, mold, or pollens from trees, grasses, and flowers. + +Coughing helps clear your airways of irritants and allergens. This helps prevent infections. + +Medical Conditions + +Many medical conditions can cause acute, subacute, or chronic cough. + +Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough lasts less than 3 weeks. + +A lingering cough that remains after a cold or other respiratory infection is gone often is called a subacute cough. A subacute cough lasts 3 to 8 weeks. + +Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD). A chronic cough lasts more than 8 weeks. + +""UACS"" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip. + +Asthma is a long-term lung disease that inflames and narrows the airways. GERD is a condition in which acid from your stomach backs up into your throat. + +Other conditions that can cause a chronic cough include: + +Respiratory infections. A cough from an upper respiratory infection can develop into a chronic cough. + +Chronic bronchitis (bron-KI-tis). This condition occurs if the lining of the airways is constantly irritated and inflamed. Smoking is the main cause of chronic bronchitis. + +Bronchiectasis (brong-ke-EK-tah-sis). This is a condition in which damage to the airways causes them to widen and become flabby and scarred. This prevents the airways from properly moving mucus out of your lungs. An infection or other condition that injures the walls of the airways usually causes bronchiectasis. + +COPD (chronic obstructive pulmonary disease). COPD is a disease that prevents enough air from flowing in and out of the airways. + +Lung cancer. In rare cases, a chronic cough is due to lung cancer. Most people who develop lung cancer smoke or used to smoke. + +Heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Fluid can build up in the body and lead to many symptoms. If fluid builds up in the lungs, it can cause a chronic cough. + +Medicines + +Certain medicines can cause a chronic cough. Examples of these medicines are ACE inhibitors and beta blockers. ACE inhibitors are used to treat high blood pressure (HBP). Beta blockers are used to treat HBP, migraine headaches, and glaucoma.",NHLBI,Cough +Who is at risk for Cough? ?,"People at risk for cough include those who: + +Are exposed to things that irritate their airways (called irritants) or things that they're allergic to (called allergens). Examples of irritants are cigarette smoke, air pollution, paint fumes, and scented products. Examples of allergens are dust, animal dander, mold, and pollens from trees, grasses, and flowers. + +Have certain conditions that irritate the lungs, such as asthma, sinus infections, colds, or gastroesophageal reflux disease. + +Smoke. Smoking can irritate your lungs and cause coughing. Smoking and/or exposure to secondhand smoke also can lead to medical conditions that can cause a cough. + +Take certain medicines, such as ACE inhibitors and beta blockers. ACE inhibitors are used to treat high blood pressure (HBP). Beta blockers are used to treat HBP, migraine headaches, and glaucoma. + +Women are more likely than men to develop a chronic cough. For more information about the substances and conditions that put you at risk for cough, go to ""What Causes Cough?""",NHLBI,Cough +What are the symptoms of Cough ?,"When you cough, mucus (a slimy substance) may come up. Coughing helps clear the mucus in your airways from a cold, bronchitis, or other condition. Rarely, people cough up blood. If this happens, you should call your doctor right away. + +A cough may be a symptom of a medical condition. Thus, it may occur with other signs and symptoms of that condition. For example, if you have a cold, you may have a runny or stuffy nose. If you have gastroesophageal reflux disease, you may have a sour taste in your mouth. + +A chronic cough can make you feel tired because you use a lot of energy to cough. It also can prevent you from sleeping well and interfere with work and socializing. A chronic cough also can cause headaches, chest pain, loss of bladder control, sweating, and, rarely, fractured ribs.",NHLBI,Cough +How to diagnose Cough ?,"Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results. + +Medical History + +Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a slimy substance), and how much you cough. + +Your doctor also may ask: + +About your medical history, including whether you have allergies, asthma, or other medical conditions. + +Whether you have heartburn or a sour taste in your mouth. These may be signs of gastroesophageal reflux disease (GERD). + +Whether you've recently had a cold or the flu. + +Whether you smoke or spend time around others who smoke. + +Whether you've been around air pollution, a lot of dust, or fumes. + +Physical Exam + +To check for signs of problems related to cough, your doctor will use a stethoscope to listen to your lungs. He or she will listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds. + +Diagnostic Tests + +Your doctor may recommend tests based on the results of your medical history and physical exam. For example, if you have symptoms of GERD, your doctor may recommend a pH probe. This test measures the acid level of the fluid in your throat. + +Other tests may include: + +An exam of the mucus from your nose or throat. This test can show whether you have a bacterial infection. + +A chest x ray. A chest x ray takes a picture of your heart and lungs. This test can help diagnose conditions such as pneumonia and lung cancer. + +Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests can help diagnose asthma and other conditions. + +An x ray of the sinuses. This test can help diagnose a sinus infection.",NHLBI,Cough +What are the treatments for Cough ?,"The best way to treat a cough is to treat its cause. However, sometimes the cause is unknown. Other treatments, such as medicines and a vaporizer, can help relieve the cough itself. + +Treating the Cause of a Cough + +Acute and Subacute Cough + +An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough usually goes away after the illness that caused it is over. + +A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over. + +Studies show that antibiotics and cold medicines can't cure a cold. However, your doctor may prescribe medicines to treat another cause of an acute or subacute cough. For example, antibiotics may be given for pneumonia. + +Chronic Cough + +A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD). + +""UACS"" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip. + +If you have a sinus infection, your doctor may prescribe antibiotics. He or she also may suggest you use a medicine that you spray into your nose. If allergies are causing your cough, your doctor may advise you to avoid the substances that you're allergic to (allergens) if possible. + +If you have asthma, try to avoid irritants and allergens that make your asthma worse. Take your asthma medicines as your doctor prescribes. + +GERD occurs if acid from your stomach backs up into your throat. Your doctor may prescribe a medicine to reduce acid in your stomach. You also may be able to relieve GERD symptoms by waiting 3 to 4 hours after a meal before lying down, and by sleeping with your head raised. + +Smoking also can cause a chronic cough. If you smoke, it's important to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +Many hospitals have programs that help people quit smoking, or hospital staff can refer you to a program. The Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart"" booklet have more information about how to quit smoking. + +Other causes of a chronic cough include respiratory infections, chronic bronchitis, bronchiectasis, lung cancer, and heart failure. Treatments for these causes may include medicines, procedures, and other therapies. Treatment also may include avoiding irritants and allergens and quitting smoking. + +If your chronic cough is due to a medicine you're taking, your doctor may prescribe a different medicine. + +Treating the Cough Rather Than the Cause + +Coughing is important because it helps clear your airways of irritants, such as smoke and mucus (a slimy substance). Coughing also helps prevent infections. + +Cough medicines usually are used only when the cause of the cough is unknown and the cough causes a lot of discomfort. + +Medicines can help control a cough and make it easier to cough up mucus. Your doctor may recommend medicines such as: + +Prescription cough suppressants, also called antitussives. These medicines can help relieve a cough. However, they're usually used when nothing else works. No evidence shows that over-the-counter cough suppressants relieve a cough. + +Expectorants. These medicines may loosen mucus, making it easier to cough up. + +Bronchodilators. These medicines relax your airways. + +Other treatments also may relieve an irritated throat and loosen mucus. Examples include using a cool-mist humidifier or steam vaporizer and drinking enough fluids. Examples of fluids are water, soup, and juice. Ask your doctor how much fluid you need. + +Cough in Children + +No evidence shows that cough and cold medicines help children recover more quickly from colds. These medicines can even harm children. Talk with your child's doctor about your child's cough and how to treat it.",NHLBI,Cough +What is (are) Coronary Heart Disease Risk Factors ?,"Coronary heart disease risk factors are conditions or habits that raise your risk of coronary heart disease (CHD) and heart attack. These risk factors also increase the chance that existing CHD will worsen. + +CHD, also called coronary artery disease, is a condition in which a waxy substance called plaque (plak) builds up on the inner walls of the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. + +Plaque narrows the arteries and reduces blood flow to your heart muscle. Reduced blood flow can cause chest pain, especially when you're active. Eventually, an area of plaque can rupture (break open). This causes a blood clot to form on the surface of the plaque. + +If the clot becomes large enough, it can block the flow of oxygen-rich blood to the portion of heart muscle fed by the artery. Blocked blood flow to the heart muscle causes a heart attack. + +Overview + +There are many known CHD risk factors. You can control some risk factors, but not others. Risk factors you can control include: + +High blood cholesterol and triglyceride levels (a type of fat found in the blood) + +High blood pressure + +Diabetes and prediabetes + +Overweight and obesity + +Smoking + +Lack of physical activity + +Unhealthy diet + +Stress + +The risk factors you can't control are age, gender, and family history of CHD. + +Many people have at least one CHD risk factor. Your risk of CHD and heart attack increases with the number of risk factors you have and their severity. Also, some risk factors put you at greater risk of CHD and heart attack than others. Examples of these risk factors include smoking and diabetes. + +Many risk factors for coronary heart disease start during childhood. This is even more common now because many children are overweight and dont get enough physical activity. + +Researchers continue to study and learn more about CHD risk factors. + +Outlook + +Following a healthy lifestyle can help you and your children prevent or control many CHD risk factors. + +Because many lifestyle habits begin during childhood, parents and families should encourage their children to make heart healthy choices. For example, you and your children can lower your risk of CHD if you maintain a healthy weight, follow a healthy diet, do physical activity regularly, and don't smoke. + +If you already have CHD, lifestyle changes can help you control your risk factors. This may prevent CHD from worsening. Even if you're in your seventies or eighties, a healthy lifestyle can lower your risk of dying from CHD. + +If lifestyle changes aren't enough, your doctor may recommend other treatments to help control your risk factors. + +Your doctor can help you find out whether you have CHD risk factors. He or she also can help you create a plan for lowering your risk of CHD, heart attack, and other heart problems. + +If you have children, talk with their doctors about their heart health and whether they have CHD risk factors. If they do, ask your doctor to help create a treatment plan to reduce or control these risk factors.",NHLBI,Coronary Heart Disease Risk Factors +Who is at risk for Coronary Heart Disease Risk Factors? ?,"High Blood Cholesterol and Triglyceride Levels + +Cholesterol + +High blood cholesterol is a condition in which your blood has too much cholesterola waxy, fat-like substance. The higher your blood cholesterol level, the greater your risk of coronary heart disease (CHD) and heart attack. + +Cholesterol travels through the bloodstream in small packages called lipoproteins. Two major kinds of lipoproteins carry cholesterol throughout your body: + +Low-density lipoproteins (LDL). LDL cholesterol sometimes is called ""bad"" cholesterol. This is because it carries cholesterol to tissues, including your heart arteries. A high LDL cholesterol level raises your risk of CHD. + +High-density lipoproteins (HDL). HDL cholesterol sometimes is called ""good"" cholesterol. This is because it helps remove cholesterol from your arteries. A low HDL cholesterol level raises your risk of CHD. + +Many factors affect your cholesterol levels. For example, after menopause, women's LDL cholesterol levels tend to rise, and their HDL cholesterol levels tend to fall. Other factorssuch as age, gender, diet, and physical activityalso affect your cholesterol levels. + +Healthy levels of both LDL and HDL cholesterol will prevent plaque from building up in your arteries. Routine blood tests can show whether your blood cholesterol levels are healthy. Talk with your doctor about having your cholesterol tested and what the results mean. + +Children also can have unhealthy cholesterol levels, especially if they're overweight or their parents have high blood cholesterol. Talk with your child's doctor about testing your child' cholesterol levels. + +To learn more about high blood cholesterol and how to manage the condition, go to the Health Topics High Blood Cholesterol article. + +Triglycerides + +Triglycerides are a type of fat found in the blood. Some studies suggest that a high level of triglycerides in the blood may raise the risk of CHD, especially in women. + +High Blood Pressure + +""Blood pressure"" is the force of blood pushing against the walls of your arteries as your heart pumps blood. If this pressure rises and stays high over time, it can damage your heart and lead to plaque buildup.All levels above 120/80 mmHg raise your risk of CHD. This risk grows as blood pressure levels rise. Only one of the two blood pressure numbers has to be above normal to put you at greater risk of CHD and heart attack. + + + +Most adults should have their blood pressure checked at least once a year. If you have high blood pressure, you'll likely need to be checked more often. Talk with your doctor about how often you should have your blood pressure checked. + +Children also can develop high blood pressure, especially if they're overweight. Your child's doctor should check your child's blood pressure at each routine checkup. + +Both children and adults are more likely to develop high blood pressure if they're overweight or have diabetes. + +For more information about high blood pressure and how to manage the condition, go to the Health Topics High Blood Pressure article. + +Diabetes and Prediabetes + +Diabetes is a disease in which the body's blood sugar level is too high. The two types of diabetes are type 1 and type 2. + +In type 1 diabetes, the body's blood sugar level is high because the body doesn't make enough insulin. Insulin is a hormone that helps move blood sugar into cells, where it's used for energy. In type 2 diabetes, the body's blood sugar level is high mainly because the body doesn't use its insulin properly. + +Over time, a high blood sugar level can lead to increased plaque buildup in your arteries. Having diabetes doubles your risk of CHD. + +Prediabetes is a condition in which your blood sugar level is higher than normal, but not as high as it is in diabetes. If you have prediabetes and don't take steps to manage it, you'll likely develop type 2 diabetes within 10 years. You're also at higher risk of CHD. + +Being overweight or obese raises your risk of type 2 diabetes. With modest weight loss and moderate physical activity, people who have prediabetes may be able to delay or prevent type 2 diabetes. They also may be able to lower their risk of CHD and heart attack. Weight loss and physical activity also can help control diabetes. + +Even children can develop type 2 diabetes. Most children who have type 2 diabetes are overweight. + +Type 2 diabetes develops over time and sometimes has no symptoms. Go to your doctor or local clinic to have your blood sugar levels tested regularly to check for diabetes and prediabetes. + +For more information about diabetes and heart disease, go to the Health Topics Diabetic Heart Disease article. For more information about diabetes and prediabetes, go to the National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK's) Introduction to Diabetes. + +Overweight and Obesity + +The terms ""overweight"" and ""obesity"" refer to body weight that's greater than what is considered healthy for a certain height. More than two-thirds of American adults are overweight, and almost one-third of these adults are obese. + +The most useful measure of overweight and obesity is body mass index (BMI).You can use the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI, or your doctor can help you. + +Overweight is defined differently for children and teens than it is for adults. Children are still growing, and boys and girls mature at different rates. Thus, BMIs for children and teens compare their heights and weights against growth charts that take age and gender into account. This is called BMI-for-age percentile. + +Being overweight or obese can raise your risk of CHD and heart attack. This is mainly because overweight and obesity are linked to other CHD risk factors, such as high blood cholesterol and triglyceride levels, high blood pressure, and diabetes. + +For more information, go to the Health Topics Overweight and Obesity article. + +Smoking + +Smoking tobacco or long-term exposure to secondhand smoke raises your risk of CHD and heart attack. + +Smoking triggers a buildup of plaque in your arteries. Smoking also increases the risk of blood clots forming in your arteries. Blood clots can block plaque-narrowed arteries and cause a heart attack.Some research shows that smoking raises your risk of CHD in part by lowering HDL cholesterol levels. + +The more you smoke, the greater your risk of heart attack. The benefits of quitting smoking occur no matter how long or how much you've smoked. Heart disease risk associated with smoking begins to decrease soon after you quit, and for many people it continues to decrease over time. + +Most people who smoke start when they're teens. Parents can help prevent their children from smoking by not smoking themselves. Talk with your child about the health dangers of smoking and ways to overcome peer pressure to smoke. + +For more information, including tips on how to quit smoking, go to the Health Topics Smoking and Your Heart article and the NHLBI's ""Your Guide to a Healthy Heart."" + +For more information about children and smoking, go to the U.S. Department of Health and Human Services' (HHS') Kids and Smoking Web page and the CDC's Smoking and Tobacco Use Web page. + +Lack of Physical Activity + +Inactive people are nearly twice as likely to develop CHD as those who are active. A lack of physical activity can worsen other CHD risk factors, such as high blood cholesterol and triglyceride levels, high blood pressure, diabetes and prediabetes, and overweight and obesity. + +It's important for children and adults to make physical activity part of their daily routines. One reason many Americans aren't active enough is because of hours spent in front of TVs and computers doing work, schoolwork, and leisure activities. + +Some experts advise that children and teens should reduce screen time because it limits time for physical activity. They recommend that children aged 2 and older should spend no more than 2 hours a day watching TV or using a computer (except for school work). + +Being physically active is one of the most important things you can do to keep your heart healthy. The good news is that even modest amounts of physical activity are good for your health. The more active you are, the more you will benefit. + +For more information, go to HHS' ""2008 Physical Activity Guidelines for Americans,"" the Health Topics Physical Activity and Your Heart article, and the NHLBI's ""Your Guide to Physical Activity and Your Heart."" + +Unhealthy Diet + +An unhealthy diet can raise your risk of CHD. For example, foods that are high in saturated and trans fats and cholesterol raise LDL cholesterol. Thus, you should try to limit these foods. + +It's also important to limit foods that are high in sodium (salt) and added sugars. A high-salt diet can raise your risk of high blood pressure. + +Added sugars will give you extra calories without nutrients like vitamins and minerals. This can cause you to gain weight, which raises your risk of CHD. Added sugars are found in many desserts, canned fruits packed in syrup, fruit drinks, and nondiet sodas. + +Stress + +Stress and anxiety may play a role in causing CHD. Stress and anxiety also can trigger your arteries to tighten. This can raise your blood pressure and your risk of heart attack. + +The most commonly reported trigger for a heart attack is an emotionally upsetting event, especially one involving anger. Stress also may indirectly raise your risk of CHD if it makes you more likely to smoke or overeat foods high in fat and sugar. + +Age + +In men, the risk for coronary heart disease (CHD) increases starting around age 45. In women, the risk for CHD increases starting around age 55. Most people have some plaque buildup in their heart arteries by the time theyre in their 70s. However, only about 25 percent of those people have chest pain, heart attacks, or other signs of CHD. + +Gender + +Some risk factors may affect CHD risk differently in women than in men. For example, estrogen provides women some protection against CHD, whereas diabetes raises the risk of CHD more in women than in men. + +Also, some risk factors for heart disease only affect women, such as preeclampsia, a condition that can develop during pregnancy. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure. (Likewise, having heart disease risk factors, such as diabetes or obesity, increases a womans risk of preeclampsia.) + +Family History + +A family history of early CHD is a risk factor for developing CHD, specifically if a father or brother is diagnosed before age 55, or a mother or sister is diagnosed before age 65.",NHLBI,Coronary Heart Disease Risk Factors +How to prevent Coronary Heart Disease Risk Factors ?,"You can prevent and control many coronary heart disease (CHD) risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. Only a few risk factorssuch as age, gender, and family historycant be controlled. + +To reduce your risk of CHD and heart attack, try to control each risk factor you can. The good news is that many lifestyle changes help control several CHD risk factors at the same time. For example, physical activity may lower your blood pressure, help control diabetes and prediabetes, reduce stress, and help control your weight. + +Heart-Healthy Lifestyle Changes + +A heart-healthy lifestyle can lower the risk of CHD. If you already have CHD, a heart-healthy lifestyle may prevent it from getting worse. Heart-healthy lifestyle changes include: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make heart-healthy choices, such as following a healthy diet and being physically active. Make following a healthy lifestyle a family goal. Making lifestyle changes can be hard. But if you make these changes as a family, it may be easier for everyone to prevent or control their CHD risk factors. + +For tips on how to help your children adopt healthy habits, visit We Can! Ways to Enhance Childrens Activity & Nutrition. + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out NHLBIs online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program. + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Routine physical activity can lower many CHD risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent CHD. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines for Americans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + +Medicines + +Sometimes lifestyle changes arent enough to control your blood cholesterol levels. For example, you may need statin medications to control or lower your cholesterol. By lowering your cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have: + +Coronary heart disease, peripheral artery disease, or had a prior stroke + +Diabetes + +High LDL cholesterol levels + +Doctors may discuss beginning statin treatment with those who have an elevated risk for developing heart disease or having a stroke. + +Your doctor also may prescribe other medications to: + +Decrease your chance of having a heart attack or dying suddenly. + +Lower your blood pressure. + +Prevent blood clots, which can lead to heart attack or stroke. + +Prevent or delay the need for a procedure or surgery, such as percutaneous coronary intervention or coronary artery bypass grafting. + +Reduce your hearts workload and relieve CHD. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to.You should still follow a heart-healthy lifestyle, even if you take medicines to treat your CHD.",NHLBI,Coronary Heart Disease Risk Factors +What is (are) Congenital Heart Defects ?,"Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: + +The interior walls of the heart + +The valves inside the heart + +The arteries and veins that carry blood to the heart or the body + +Congenital heart defects change the normal flow of blood through the heart. + +There are many types of congenital heart defects. They range from simple defects with no symptoms to complex defects with severe, life-threatening symptoms. + +Congenital heart defects are the most common type of birth defect. They affect 8 out of every 1,000 newborns. Each year, more than 35,000 babies in the United States are born with congenital heart defects. + +Many of these defects are simple conditions. They need no treatment or are easily fixed. Some babies are born with complex congenital heart defects. These defects require special medical care soon after birth. + +The diagnosis and treatment of complex heart defects has greatly improved over the past few decades. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives. + +Most people who have complex heart defects continue to need special heart care throughout their lives. They may need to pay special attention to how their condition affects issues such as health insurance, employment, birth control and pregnancy, and other health issues. + +In the United States, more than 1 million adults are living with congenital heart defects.",NHLBI,Congenital Heart Defects +What causes Congenital Heart Defects ?,"If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, doctors often don't know why congenital heart defects occur. + +Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect may be more likely than other people to have a child with the defect. Rarely, more than one child in a family is born with a heart defect. + +Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. In fact, half of all babies who have Down syndrome have congenital heart defects. + +Smoking during pregnancy also has been linked to several congenital heart defects, including septal defects. + +Researchers continue to search for the causes of congenital heart defects.",NHLBI,Congenital Heart Defects +What are the symptoms of Congenital Heart Defects ?,"Many congenital heart defects cause few or no signs and symptoms. A doctor may not even detect signs of a heart defect during a physical exam. + +Some heart defects do cause signs and symptoms. They depend on the number, type, and severity of the defects. Severe defects can cause signs and symptoms, usually in newborns. These signs and symptoms may include: + +Rapid breathing + +Cyanosis (a bluish tint to the skin, lips, and fingernails) + +Fatigue (tiredness) + +Poor blood circulation + +Congenital heart defects don't cause chest pain or other painful symptoms. + +Heart defects can cause heart murmurs (extra or unusual sounds heard during a heartbeat). Doctors can hear heart murmurs using a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs. + +Normal growth and development depend on a normal workload for the heart and normal flow of oxygen-rich blood to all parts of the body. Babies who have congenital heart defects may have cyanosis and tire easily while feeding. As a result, they may not gain weight or grow as they should. + +Older children who have congenital heart defects may get tired easily or short of breath during physical activity. + +Many types of congenital heart defects cause the heart to work harder than it should. With severe defects, this can lead to heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Symptoms of heart failure include: + +Shortness of breath or trouble breathing + +Fatigue with physical activity + +A buildup of blood and fluid in the lungs + +Swelling in the ankles, feet, legs, abdomen, and veins in the neck",NHLBI,Congenital Heart Defects +How to diagnose Congenital Heart Defects ?,"Severe congenital heart defects generally are diagnosed during pregnancy or soon after birth. Less severe defects often aren't diagnosed until children are older. + +Minor defects often have no signs or symptoms. Doctors may diagnose them based on results from a physical exam and tests done for another reason. + +Specialists Involved + +Pediatric cardiologists are doctors who specialize in the care of babies and children who have heart problems. Cardiac surgeons are specialists who repair heart defects using surgery. + +Physical Exam + +During a physical exam, the doctor will: + +Listen to your child's heart and lungs with a stethoscope + +Look for signs of a heart defect, such as cyanosis (a bluish tint to the skin, lips, or fingernails), shortness of breath, rapid breathing, delayed growth, or signs of heart failure + +Diagnostic Tests + +Echocardiography + +Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. During the test, the sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. + +Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. + +Echo is an important test for both diagnosing a heart problem and following the problem over time. The test can show problems with the heart's structure and how the heart is reacting to those problems. Echo will help your child's cardiologist decide if and when treatment is needed. + +During pregnancy, if your doctor suspects that your baby has a congenital heart defect, fetal echo can be done. This test uses sound waves to create a picture of the baby's heart while the baby is still in the womb. + +Fetal echo usually is done at about 18 to 22 weeks of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can detect if one of the heart's chambers is enlarged, which can help diagnose a heart problem. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart and lungs. This test can show whether the heart is enlarged. It also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure. + +Pulse Oximetry + +For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood. + +Cardiac Catheterization + +During cardiac catheterization (KATH-e-ter-ih-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. + +Special dye is injected through the catheter into a blood vessel or one of the hearts chambers. The dye allows the doctor to see blood flowing through the heart and blood vessels on an x-ray image. + +The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart. + +Cardiac catheterization also is used to repair some heart defects.",NHLBI,Congenital Heart Defects +What are the treatments for Congenital Heart Defects ?,"Although many children who have congenital heart defects don't need treatment, some do. Doctors repair congenital heart defects with catheter procedures or surgery. + +Sometimes doctors combine catheter and surgical procedures to repair complex heart defects, which may involve several kinds of defects. + +The treatment your child receives depends on the type and severity of his or her heart defect. Other factors include your child's age, size, and general health. + +Some children who have complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may need to take medicines for years. + +Catheter Procedures + +Catheter procedures are much easier on patients than surgery. They involve only a needle puncture in the skin where the catheter (thin, flexible tube) is inserted into a vein or an artery. + +Doctors don't have to surgically open the chest or operate directly on the heart to repair the defect(s). This means that recovery may be easier and quicker. + +The use of catheter procedures has increased a lot in the past 20 years. They have become the preferred way to repair many simple heart defects, such as atrial septal defect (ASD) and pulmonary valve stenosis. + +For ASD repair, the doctor inserts a catheter into a vein in the groin (upper thigh). He or she threads the tube to the heart's septum. A device made up of two small disks or an umbrella-like device is attached to the catheter. + +When the catheter reaches the septum, the device is pushed out of the catheter. The device is placed so that it plugs the hole between the atria. Its secured in place and the catheter is withdrawn from the body. + +Within 6 months, normal tissue grows in and over the device. The closure device does not need to be replaced as the child grows. + +For pulmonary valve stenosis, the doctor inserts a catheter into a vein and threads it to the hearts pulmonary valve. A tiny balloon at the end of the catheter is quickly inflated to push apart the leaflets, or ""doors,"" of the valve. + +Then, the balloon is deflated and the catheter and ballon are withdrawn. This procedure can be used to repair any narrowed valve in the heart. + +To help guide the catheter, doctors often use echocardiography (echo), transesophageal (tranz-ih-sof-uh-JEE-ul) echo (TEE), and coronary angiography (an-jee-OG-rah-fee). + +TEE is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the passage leading from the mouth to the stomach. Doctors also use TEE to examine complex heart defects. + +Surgery + +A child may need open-heart surgery if his or her heart defect can't be fixed using a catheter procedure. Sometimes one surgery can repair the defect completely. If that's not possible, the child may need more surgeries over months or years to fix the problem. + +Cardiac surgeons may use open-heart surgery to: + +Close holes in the heart with stitches or a patch + +Repair or replace heart valves + +Widen arteries or openings to heart valves + +Repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed + +Rarely, babies are born with multiple defects that are too complex to repair. These babies may need heart transplants. In this procedure, the child's heart is replaced with a healthy heart from a deceased child. The heart has been donated by the deceased childs family.",NHLBI,Congenital Heart Defects +What is (are) Aplastic Anemia ?,"Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is a blood disorder in which the body's bone marrow doesn't make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones. It makes stem cells that develop into red blood cells, white blood cells, and platelets (PLATE-lets). + +Red blood cells carry oxygen to all parts of your body. They also carry carbon dioxide (a waste product) to your lungs to be exhaled. White blood cells help your body fight infections. Platelets are blood cell fragments that stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. + +It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than a day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. + +If your bone marrow can't make enough new blood cells, many health problems can occur. These problems include irregular heartbeats called arrhythmias (ah-RITH-me-ahs), an enlarged heart, heart failure, infections, and bleeding. Severe aplastic anemia can even cause death. + +Overview + +Aplastic anemia is a type of anemia. The term ""anemia"" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). This iron-rich protein helps carry oxygen to your body. + +In people who have aplastic anemia, the body doesn't make enough red blood cells, white blood cells, and platelets. This is because the bone marrow's stem cells are damaged. (Aplastic anemia also is called bone marrow failure.) + +Many diseases, conditions, and factors can damage the stem cells. These conditions can be acquired or inherited. ""Acquired"" means you aren't born with the condition, but you develop it. ""Inherited"" means your parents passed the gene for the condition on to you. + +In many people who have aplastic anemia, the cause is unknown. + +Outlook + +Aplastic anemia is a rare but serious disorder. It can develop suddenly or slowly. The disorder tends to get worse over time, unless its cause is found and treated. Treatments for aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines. + +With prompt and proper care, many people who have aplastic anemia can be successfully treated. Blood and marrow stem cell transplants may offer a cure for some people who have aplastic anemia.",NHLBI,Aplastic Anemia +What causes Aplastic Anemia ?,"Damage to the bone marrow's stem cells causes aplastic anemia. When stem cells are damaged, they don't grow into healthy blood cells. + +The cause of the damage can be acquired or inherited. ""Acquired"" means you aren't born with the condition, but you develop it. ""Inherited"" means your parents passed the gene for the condition on to you. + +Acquired aplastic anemia is more common, and sometimes it's only temporary. Inherited aplastic anemia is rare. + +In many people who have aplastic anemia, the cause is unknown. Some research suggests that stem cell damage may occur because the body's immune system attacks its own cells by mistake. + +Acquired Causes + +Many diseases, conditions, and factors can cause aplastic anemia, including: + +Toxins, such as pesticides, arsenic, and benzene. + +Radiation and chemotherapy (treatments for cancer). + +Medicines, such as chloramphenicol (an antibiotic rarely used in the United States). + +Infectious diseases, such as hepatitis, Epstein-Barr virus, cytomegalovirus (si-to-MEG-ah-lo-VI-rus), parvovirus B19, and HIV. + +Autoimmune disorders, such as lupus and rheumatoid arthritis. + +Pregnancy. (Aplastic anemia that occurs during pregnancy often goes away after delivery.) + +Sometimes, cancer from another part of the body can spread to the bone and cause aplastic anemia. + +Inherited Causes + +Certain inherited conditions can damage the stem cells and lead to aplastic anemia. Examples include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis (DIS-ker-ah-TO-sis) congenita, and Diamond-Blackfan anemia.",NHLBI,Aplastic Anemia +Who is at risk for Aplastic Anemia? ?,"Aplastic anemia is a rare but serious blood disorder. People of all ages can develop aplastic anemia. However, it's most common in adolescents, young adults, and the elderly. Men and women are equally likely to have it. + +The disorder is two to three times more common in Asian countries. + +Your risk of aplastic anemia is higher if you: + +Have been exposed to toxins + +Have taken certain medicines or had radiation or chemotherapy (treatments for cancer) + +Have certain infectious diseases, autoimmune disorders, or inherited conditions + +For more information, go to ""What Causes Aplastic Anemia?""",NHLBI,Aplastic Anemia +What are the symptoms of Aplastic Anemia ?,"Lower than normal numbers of red blood cells, white blood cells, and platelets cause most of the signs and symptoms of aplastic anemia. + +Signs and Symptoms of Low Blood Cell Counts + + + +Red Blood Cells + +The most common symptom of a low red blood cell count is fatigue (tiredness). A lack of hemoglobin in the blood causes fatigue. Hemoglobin is an iron-rich protein in red blood cells. It helps carry oxygen to the body. + +A low red blood cell count also can cause shortness of breath; dizziness, especially when standing up; headaches; coldness in your hands or feet; pale skin; and chest pain. + +If you don't have enough hemoglobin-carrying red blood cells, your heart has to work harder to move the reduced amount of oxygen in your blood. This can lead to arrhythmias (irregular heartbeats), a heart murmur, an enlarged heart, or even heart failure. + +White Blood Cells + +White blood cells help fight infections. Signs and symptoms of a low white blood cell count include fevers, frequent infections that can be severe, and flu-like illnesses that linger. + +Platelets + +Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. People who have low platelet counts tend to bruise and bleed easily, and the bleeding may be hard to stop. + +Common types of bleeding associated with a low platelet count include nosebleeds, bleeding gums, pinpoint red spots on the skin, and blood in the stool. Women also may have heavy menstrual bleeding. + +Other Signs and Symptoms + +Aplastic anemia can cause signs and symptoms that aren't directly related to low blood cell counts. Examples include nausea (feeling sick to your stomach) and skin rashes. + +Paroxysmal Nocturnal Hemoglobinuria + +Some people who have aplastic anemia have a condition called paroxysmal (par-ok-SIZ-mal) nocturnal hemoglobinuria (HE-mo-glo-bi-NOO-re-ah), or PNH. This is a red blood cell disorder. Most people who have PNH don't have any signs or symptoms. + +If symptoms do occur, they may include: + +Shortness of breath + +Swelling or pain in the abdomen or swelling in the legs caused by blood clots + +Blood in the urine + +Headaches + +Jaundice (a yellowish color of the skin or whites of the eyes) + +In people who have aplastic anemia and PNH, either condition can develop first.",NHLBI,Aplastic Anemia +How to diagnose Aplastic Anemia ?,"Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. + +Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. + +Specialists Involved + +If your primary care doctor thinks you have aplastic anemia, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in treating blood diseases and disorders. + +Medical and Family Histories + +Your doctor may ask questions about your medical history, such as whether: + +You've had anemia or a condition that can cause anemia + +You have shortness of breath, dizziness, headaches, or other signs and symptoms of anemia + +You've been exposed to certain toxins or medicines + +You've had radiation or chemotherapy (treatments for cancer) + +You've had infections or signs of infections, such as fever + +You bruise or bleed easily + +Your doctor also may ask whether any of your family members have had anemia or other blood disorders. + +Physical Exam + +Your doctor will do a physical exam to check for signs of aplastic anemia. He or she will try to find out how severe the disorder is and what's causing it. + +The exam may include checking for pale or yellowish skin and signs of bleeding or infection. Your doctor may listen to your heart and lungs for abnormal heartbeats and breathing sounds. He or she also may feel your abdomen to check the size of your liver and feel your legs for swelling. + +Diagnostic Tests + +Many tests are used to diagnose aplastic anemia. These tests help: + +Confirm a diagnosis of aplastic anemia, look for its cause, and find out how severe it is + +Rule out other conditions that may cause similar symptoms + +Check for paroxysmal nocturnal hemoglobinuria (PNH) + +Complete Blood Count + +Often, the first test used to diagnose aplastic anemia is a complete blood count (CBC). The CBC measures many parts of your blood. + +This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. + +The normal range of these levels varies in certain racial and ethnic populations. Your doctor can explain your test results to you. + +The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of aplastic anemia, an infection, or another condition. + +Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. + +Reticulocyte Count + +A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have aplastic anemia have low reticulocyte levels. + +Bone Marrow Tests + +Bone marrow tests show whether your bone marrow is healthy and making enough blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. + +Bone marrow aspiration may be done to find out if and why your bone marrow isn't making enough blood cells. For this test, your doctor removes a small amount of bone marrow fluid through a needle. The sample is looked at under a microscope to check for faulty cells. + +A bone marrow biopsy may be done at the same time as an aspiration or afterward. For this test, your doctor removes a small amount of bone marrow tissue through a needle. + +The tissue is checked for the number and types of cells in the bone marrow. In aplastic anemia, the bone marrow has a lower than normal number of all three types of blood cells. + +Other Tests + +Other conditions can cause symptoms similar to those of aplastic anemia. Thus, other tests may be needed to rule out those conditions. These tests may include: + +X ray, computed tomography (CT) scan, or an ultrasound imaging test. These tests can show enlarged lymph nodes in your abdomen. Enlarged lymph nodes may be a sign of blood cancer. Doctors also may use these tests to look at the kidneys and the bones in the arms and hands, which are sometimes abnormal in young people who have Fanconi anemia. This type of anemia can lead to aplastic anemia. + +Chest x ray. This test creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray may be used to rule out infections. + +Liver tests and viral studies. These tests are used to check for liver diseases and viruses. + +Tests that check vitamin B12 and folate levels in the blood. These tests can help rule out anemia caused by vitamin deficiency. + +Your doctor also may recommend blood tests for PNH and to check your immune system for proteins called antibodies. (Antibodies in the immune system that attack your bone marrow cells may cause aplastic anemia.)",NHLBI,Aplastic Anemia +What are the treatments for Aplastic Anemia ?,"Treatments for aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines. These treatments can prevent or limit complications, relieve symptoms, and improve quality of life. + +Blood and marrow stem cell transplants may cure the disorder in some people who are eligible for a transplant. Removing a known cause of aplastic anemia, such as exposure to a toxin, also may cure the condition. + +Who Needs Treatment + +People who have mild or moderate aplastic anemia may not need treatment as long as the condition doesn't get worse. People who have severe aplastic anemia need medical treatment right away to prevent complications. + +People who have very severe aplastic anemia need emergency medical care in a hospital. Very severe aplastic anemia can be fatal if it's not treated right away. + +Blood Transfusions + +Blood transfusions can help keep blood cell counts at acceptable levels. A blood transfusion is a common procedure in which blood is given to you through an intravenous (IV) line in one of your blood vessels. + +Transfusions require careful matching of donated blood with the recipient's blood. + +Blood transfusions help relieve the symptoms of aplastic anemia, but they're not a permanent treatment. + +Blood and Marrow Stem Cell Transplants + +A blood and marrow stem cell transplant replaces damaged stem cells with healthy ones from another person (a donor). + +During the transplant, which is like a blood transfusion, you get donated stem cells through a tube placed in a vein in your chest. Once the stem cells are in your body, they travel to your bone marrow and begin making new blood cells. + +Blood and marrow stem cell transplants may cure aplastic anemia in people who can have this type of treatment. The transplant works best in children and young adults with severe aplastic anemia who are in good health and who have matched donors. + +Older people may be less able to handle the treatments needed to prepare the body for the transplant. They're also more likely to have complications after the transplant. + +If you have aplastic anemia, talk with your doctor about whether a blood and marrow stem cell transplant is an option for you. + +Medicines + +If you have aplastic anemia, your doctor may prescribe medicines to: + +Stimulate your bone marrow + +Suppress your immune system + +Prevent and treat infections + +Medicines To Stimulate Bone Marrow + +Man-made versions of substances that occur naturally in the body can stimulate the bone marrow to make more blood cells. Examples of these types of medicines include erythropoietin and colony-stimulating factors. + +These medicines have some risks. You and your doctor will work together to decide whether the benefits of these medicines outweigh the risks. If this treatment works well, it can help you avoid the need for blood transfusions. + +Medicines To Suppress the Immune System + +Research suggests that aplastic anemia may sometimes occur because the body's immune system attacks its own cells by mistake. For this reason, your doctor may prescribe medicines to suppress your immune system. + +These medicines allow your bone marrow to start making blood cells again. They also may help you avoid the need for blood transfusions. + +Medicines that suppress the immune system don't cure aplastic anemia. However, they can relieve its symptoms and reduce complications. These medicines often are used for people who can't have blood and marrow stem cell transplants or who are waiting for transplants. + +Three medicinesoften given togethercan suppress the body's immune system. They are antithymocyte globulin (ATG), cyclosporine, and methylprednisolone. + +It may take a few months to notice the effects of these medicines. Most often, as blood cell counts rise, symptoms lessen. Blood cell counts in people who respond well to these medicines usually don't reach normal levels. However, the blood cell counts often are high enough to allow people to do their normal activities. + +People who have aplastic anemia may need long-term treatment with these medicines. + +Medicines that suppress the immune system can have side effects. They also may increase the risk of developing leukemia (lu-KE-me-ah) or myelodysplasia (MI-e-lo-dis-PLA-ze-ah; MDS). Leukemia is a cancer of the blood cells. MDS is a condition in which the bone marrow makes too many faulty blood cells. + +Medicines To Prevent and Treat Infections + +If you have aplastic anemia, you might be at risk for infections due to low white blood cell counts. Your doctor may prescribe antibiotic and antiviral medicines to prevent and treat infections.",NHLBI,Aplastic Anemia +What is (are) Disseminated Intravascular Coagulation ?,"Disseminated intravascular coagulation (ko-ag-u-LA-shun), or DIC, is a condition in which blood clots form throughout the body's small blood vessels. These blood clots can reduce or block blood flow through the blood vessels, which can damage the body's organs. + +In DIC, the increased clotting uses up platelets (PLATE-lets) and clotting factors in the blood. Platelets are blood cell fragments that stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. Clotting factors are proteins needed for normal blood clotting. + +With fewer platelets and clotting factors in the blood, serious bleeding can occur. DIC can cause internal and external bleeding. + +Internal bleeding occurs inside the body. External bleeding occurs underneath or from the skin or mucosa. (The mucosa is the tissue that lines some organs and body cavities, such as your nose and mouth.) + +DIC can cause life-threatening bleeding. + +Overview + +To understand DIC, it helps to understand the body's normal blood clotting process. Your body has a system to control bleeding. When small cuts or breaks occur on blood vessel walls, your body activates clotting factors. These clotting factors, such as thrombin and fibrin, work with platelets to form blood clots. + +Blood clots seal the small cuts or breaks on the blood vessel walls. After bleeding stops and the vessels heal, your body breaks down and removes the clots. + +Some diseases and conditions can cause clotting factors to become overactive, leading to DIC. These diseases and conditions include: + +Sepsis (an infection in the bloodstream) + +Surgery and trauma + +Cancer + +Serious complications of pregnancy and childbirth + +Examples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns. + +The two types of DIC are acute and chronic. Acute DIC develops quickly (over hours or days) and must be treated right away. The condition begins with excessive blood clotting in the small blood vessels and quickly leads to serious bleeding. + +Chronic DIC develops slowly (over weeks or months). It lasts longer and usually isn't recognized as quickly as acute DIC. Chronic DIC causes excessive blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC. + +Treatment for DIC involves treating the clotting and bleeding problems and the underlying cause of the condition. + +People who have acute DIC may need blood transfusions, medicines, and other life-saving measures. People who have chronic DIC may need medicines to help prevent blood clots from forming in their small blood vessels. + +Outlook + +The outlook for DIC depends on its severity and underlying cause. Acute DIC can damage the body's organs and even cause death if it's not treated right away. Chronic DIC also can damage the body's organs. + +Researchers are looking for ways to prevent DIC or diagnose it early. They're also studying the use of various clotting proteins and medicines to treat the condition.",NHLBI,Disseminated Intravascular Coagulation +What causes Disseminated Intravascular Coagulation ?,"Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include: + +Sepsis (an infection in the bloodstream) + +Surgery and trauma + +Cancer + +Serious complications of pregnancy and childbirth + +Examples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns. + +The two types of DIC are acute and chronic. Acute DIC begins with clotting in the small blood vessels and quickly leads to serious bleeding. Chronic DIC causes blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC. + +Similar Clotting Conditions + +Two other conditions cause blood clotting in the small blood vessels. However, their causes and treatments differ from those of DIC. + +These conditions are thrombotic thrombocytopenic purpura (throm-BOT-ik throm-bo-cy-toe-PEE-nick PURR-purr-ah), or TTP, and hemolytic-uremic syndrome (HUS). HUS is more common in children than adults. It's also more likely to cause kidney damage than TTP.",NHLBI,Disseminated Intravascular Coagulation +Who is at risk for Disseminated Intravascular Coagulation? ?,"Disseminated intravascular coagulation (DIC) is the result of an underlying disease or condition. People who have one or more of the following conditions are most likely to develop DIC: + +Sepsis (an infection in the bloodstream) + +Surgery and trauma + +Cancer + +Serious complications of pregnancy and childbirth + +People who are bitten by poisonous snakes (such as rattlesnakes and other vipers), or those who have frostbite or burns, also are at risk for DIC.",NHLBI,Disseminated Intravascular Coagulation +What are the symptoms of Disseminated Intravascular Coagulation ?,"Signs and symptoms of disseminated intravascular coagulation (DIC) depend on its cause and whether the condition is acute or chronic. + +Acute DIC develops quickly (over hours or days) and is very serious. Chronic DIC develops more slowly (over weeks or months). It lasts longer and usually isn't recognized as quickly as acute DIC. + +With acute DIC, blood clotting in the blood vessels usually occurs first, followed by bleeding. However, bleeding may be the first obvious sign. Serious bleeding can occur very quickly after developing acute DIC. Thus, emergency treatment in a hospital is needed. + +Blood clotting also occurs with chronic DIC, but it usually doesn't lead to bleeding. Sometimes chronic DIC has no signs or symptoms. + +Signs and Symptoms of Excessive Blood Clotting + +In DIC, blood clots form throughout the body's small blood vessels. These blood clots can reduce or block blood flow through the blood vessels. This can cause the following signs and symptoms: + +Chest pain and shortness of breath if blood clots form in the blood vessels in your lungs and heart. + +Pain, redness, warmth, and swelling in the lower leg if blood clots form in the deep veins of your leg. + +Headaches, speech changes, paralysis (an inability to move), dizziness, and trouble speaking and understanding if blood clots form in the blood vessels in your brain. These signs and symptoms may indicate a stroke. + +Heart attack and lung and kidney problems if blood clots lodge in your heart, lungs, or kidneys. These organs may even begin to fail. + +Signs and Symptoms of Bleeding + +In DIC, the increased clotting activity uses up the platelets and clotting factors in the blood. As a result, serious bleeding can occur. DIC can cause internal and external bleeding. + +Internal Bleeding + +Internal bleeding can occur in your body's organs, such as the kidneys, intestines, and brain. This bleeding can be life threatening. Signs and symptoms of internal bleeding include: + +Blood in your urine from bleeding in your kidneys or bladder. + +Blood in your stools from bleeding in your intestines or stomach. Blood in your stools can appear red or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.) + +Headaches, double vision, seizures, and other symptoms from bleeding in your brain. + +External Bleeding + +External bleeding can occur underneath or from the skin, such as at the site of cuts or an intravenous (IV) needle. External bleeding also can occur from the mucosa. (The mucosa is the tissue that lines some organs and body cavities, such as your nose and mouth.) + +External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin. + +Purpura and Petechiae + + + +Other signs of external bleeding include: + +Prolonged bleeding, even from minor cuts. + +Bleeding or oozing from your gums or nose, especially nosebleeds or bleeding from brushing your teeth. + +Heavy or extended menstrual bleeding in women.",NHLBI,Disseminated Intravascular Coagulation +How to diagnose Disseminated Intravascular Coagulation ?,"Your doctor will diagnose disseminated intravascular coagulation (DIC) based on your medical history, a physical exam, and test results. Your doctor also will look for the cause of DIC. + +Acute DIC requires emergency treatment. The condition can be life threatening if it's not treated right away. If you have signs or symptoms of severe bleeding or blood clots, call 911 right away. + +Medical History and Physical Exam + +Your doctor will ask whether you have or have had any diseases or conditions that can trigger DIC. For more information about these diseases and conditions, go to ""What Causes Disseminated Intravascular Coagulation?"" + +Your doctor will ask about signs and symptoms of blood clots and bleeding. He or she also will do a physical exam to look for signs and symptoms of blood clots and internal and external bleeding. For example, your doctor may look for bleeding from your gums. + +Diagnostic Tests + +To diagnose DIC, your doctor may recommend blood tests to look at your blood cells and the clotting process. For these tests, a small amount of blood is drawn from a blood vessel, usually in your arm. + +Complete Blood Count and Blood Smear + +A complete blood count (CBC) measures the number of red blood cells, white blood cells, and platelets in your blood. + +Platelets are blood cell fragments that help with blood clotting. Abnormal platelet numbers may be a sign of a bleeding disorder (not enough clotting) or a thrombotic disorder (too much clotting). + +A blood smear is a test that may reveal whether your red blood cells are damaged. + +Tests for Clotting Factors and Clotting Time + +The following tests examine the proteins active in the blood clotting process and how long it takes them to form a blood clot. + +PT and PTT tests. These tests measure how long it takes blood clots to form. + +Serum fibrinogen. Fibrinogen is a protein that helps the blood clot. This test measures how much fibrinogen is in your blood. + +Fibrin degradation. After blood clots dissolve, substances called fibrin degradation products are left behind in the blood. This test measures the amount of these substances in the blood.",NHLBI,Disseminated Intravascular Coagulation +What are the treatments for Disseminated Intravascular Coagulation ?,"Treatment for disseminated intravascular coagulation (DIC) depends on its severity and cause. The main goals of treating DIC are to control bleeding and clotting problems and treat the underlying cause. + +Acute Disseminated Intravascular Coagulation + +People who have acute DIC may have severe bleeding that requires emergency treatment in a hospital. Treatment may include blood transfusions, medicines, and oxygen therapy. (Oxygen is given through nasal prongs, a mask, or a breathing tube.) + +A blood transfusion is a safe, common procedure. You receive blood through an intravenous (IV) line in one of your blood vessels. Blood transfusions are done to replace blood loss due to an injury, surgery, or illness. + +Blood is made up of various parts, including red blood cells, white blood cells, platelets, and plasma. Some blood transfusions involve whole blood (blood with all of its parts). More often though, only some parts of blood are transfused. + +If you have DIC, you may be given platelets and clotting factors, red blood cells, and plasma (the liquid part of blood). + +Chronic Disseminated Intravascular Coagulation + +People who have chronic DIC are more likely to have blood clotting problems than bleeding. If you have chronic DIC, your doctor may treat you with medicines called anticoagulants, or blood thinners. + +Blood thinners help prevent blood clots from forming. They also keep existing blood clots from getting larger.",NHLBI,Disseminated Intravascular Coagulation +What causes Heart Disease in Women ?,"Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include: + +Smoking, including secondhand smoke + +High amounts of certain fats andcholesterol in the blood + +High blood pressure + +High amounts of sugar in the blood due to insulin resistance or diabetes + +Blood vessel inflammation + +Plaque may begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood. + +Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. This can cause chest pain or discomfort calledangina. + +If the plaque ruptures, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots. + +Blood clots can further narrow the coronary arteries and worsenangina. If a clot becomes large enough, it can mostly or completely block a coronary artery and cause a heart attack. + +In addition to the factors above, low estrogen levels before or after menopause may play a role in causingcoronary microvascular disease(MVD). Coronary MVD is heart disease that affects the heart's tiny arteries. + +The cause of broken heart syndrome isn't yet known. However, a sudden release of stress hormones may play a role in causing the disorder. Most cases of broken heart syndrome occur in women who have gone through menopause.",NHLBI,Heart Disease in Women +Who is at risk for Heart Disease in Women? ?,"Certain traits, conditions, or habits may raise your risk forcoronary heart disease(CHD). These conditions are known as risk factors. Risk factors also increase the chance that existing CHD will worsen. + +Women generally have the same CHD risk factors as men. However, some risk factors may affect women differently than men. For example, diabetes raises the risk of CHD more in women. Also, some risk factors, such as birth control pills and menopause, only affect women. + +There are many known CHD risk factors. Your risk for CHD andheart attackrises with the number of risk factors you have and their severity. Risk factors tend to ""gang up"" and worsen each other's effects. + +Having just one risk factor doubles your risk for CHD. Having two risk factors increases your risk for CHD fourfold. Having three or more risk factors increases your risk for CHD more than tenfold. + +Also, some risk factors, such as smoking and diabetes, put you at greater risk for CHD and heart attack than others. + +More than 75 percent of women aged 40 to 60 have one or more risk factors for CHD. Many risk factors start during childhood; some even develop within the first 10 years of life. You can control most risk factors, but some you can't. + +For more information about CHD risk factors, go to the Health Topics Coronary Heart Disease Risk Factorsarticle. To find out whether you're at risk for CHD, talk with your doctor or health care provider. + +Risk Factors You Can Control + +Smoking + +Smoking is the most powerful risk factor that women can control. Smoking tobacco or long-term exposure to secondhand smoke raises your risk for CHD and heart attack. + +Smoking exposes you to carbon monoxide. This chemical robs your blood of oxygen and triggers a buildup of plaque in your arteries. + +Smoking also increases the risk of blood clots forming in your arteries. Blood clots can block plaque-narrowed arteries and cause a heart attack. The more you smoke, the greater your risk for a heart attack. + +Even women who smoke fewer than two cigarettes a day are at increased risk for CHD. + +High Blood Cholesterol and High Triglyceride Levels + +Cholesterol travels in the bloodstream in small packages called lipoproteins (LI-po-pro-teens). The two major kinds of lipoproteins are low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol. + +LDL cholesterol is sometimes called ""bad"" cholesterol. This is because it carries cholesterol to tissues, including your heart arteries. HDL cholesterol is sometimes called ""good"" cholesterol. This is because it helps remove cholesterol from your arteries. + +A blood test called a lipoprotein panel is used to measure cholesterol levels. This test gives information about your total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides (a type of fat found in the blood). + +Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. A woman's risk for CHD increases if she has a total cholesterol level greater than 200 mg/dL, an LDL cholesterol level greater than 100 mg/dL, or an HDL cholesterol level less than 50 mg/dL. + +A triglyceride level greater than 150 mg/dL also increases a woman's risk for CHD. A woman's HDL cholesterol and triglyceride levels predict her risk for CHD better than her total cholesterol or LDL cholesterol levels. + +High Blood Pressure + +Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps blood. If this pressure rises and stays high over time, it can damage the body in many ways. + +Women who have blood pressure greater than 120/80 mmHg are at increased risk for CHD. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +High blood pressure is defined differently for people who have diabetes or chronic kidney disease. If you have one of these diseases, work with your doctor to set a healthy blood pressure goal. + +Diabetes and Prediabetes + +Diabetes is a disease in which the body's blood sugar level is too high. This is because the body doesn't make enough insulin or doesn't use its insulin properly. + +Insulin is a hormone that helps move blood sugar into cells, where it's used for energy. Over time, a high blood sugar level can lead to increased plaque buildup in your arteries. + +Prediabetes is a condition in which your blood sugar level is higher than normal, but not as high as it is in diabetes. Prediabetes puts you at higher risk for both diabetes and CHD. + +Diabetes and prediabetes raise the risk of CHD more in women than in men. In fact, having diabetes doubles a woman's risk of developing CHD. + +Before menopause, estrogen provides women some protection against CHD. However, in women who have diabetes, the disease counters the protective effects of estrogen. + +Overweight and Obesity + +The terms ""overweight"" and ""obesity"" refer to body weight that's greater than what is considered healthy for a certain height. + +The most useful measure of overweight and obesity is body mass index (BMI). BMI is calculated from your height and weight. In adults, a BMI of 18.5 to 24.9 is considered normal. A BMI of 25 to 29.9 is considered overweight. A BMI of 30 or more is considered obese. + +You can use the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI, or your doctor can help you. + +Studies suggest that where extra weight occurs on the body may predict CHD risk better than BMI. Women who carry much of their fat around the waist are at greatest risk for CHD. These women have ""apple-shaped"" figures. + +Women who carry most of their fat on their hips and thighsthat is, those who have ""pear-shaped"" figuresare at lower risk for CHD. + +To fully know how excess weight affects your CHD risk, you should know your BMI and waist measurement. If you have a BMI greater than 24.9 and a waist measurement greater than 35 inches, you're at increased risk for CHD. + +If your waist measurement divided by your hip measurement is greater than 0.9, you're also at increased risk for CHD. + +Studies also suggest that women whose weight goes up and down dramatically (typically due to unhealthy dieting) are at increased risk for CHD. These swings in weight can lower HDL cholesterol levels. + +Metabolic Syndrome + +Metabolic syndromeis the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke. A diagnosis of metabolic syndrome is made if you have at least three of the following risk factors: + +A large waistline. Having extra fat in the waist area is a greater risk factor for CHD than having extra fat in other parts of the body, such as on the hips. + +A higher than normal triglyceride level (or you're on medicine to treat high triglycerides). + +A lower than normal HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). + +Higher than normal blood pressure (or you're on medicine to treat high blood pressure). + +Higher than normal fasting blood sugar (or you're on medicine to treat diabetes) + +Metabolic syndrome is more common in African American women and Mexican American women than in men of the same racial groups. The condition affects White women and men about equally. + +Birth Control Pills + +Women who smoke and take birth control pills are at very high risk for CHD, especially if they're older than 35. For women who take birth control pills but don't smoke, the risk of CHD isn't fully known. + +Lack of Physical Activity + +Inactive people are nearly twice as likely to develop CHD as those who are physically active. A lack of physical activity can worsen other CHD risk factors, such as high blood cholesterol and triglyceride levels, high blood pressure, diabetes and prediabetes, and overweight and obesity. + +Unhealthy Diet + +An unhealthy diet can raise your risk for CHD. For example, foods that are high in saturated and trans fats and cholesterol raise your LDL cholesterol level. A high-sodium (salt) diet can raise your risk for high blood pressure. + +Foods with added sugars will give you extra calories without nutrients, such as vitamins and minerals. This can cause you to gain weight, which raises your risk for CHD. + +Too much alcohol also can cause you to gain weight, and it will raise your blood pressure. + +Stress or Depression + +Stress may play a role in causing CHD. Stress can trigger your arteries to narrow. This can raise your blood pressure and your risk for a heart attack. + +Getting upset or angry also can trigger a heart attack. Stress also may indirectly raise your risk for CHD if it makes you more likely to smoke or overeat foods high in fat and sugar. + +People who are depressed are two to three times more likely to develop CHD than people who are not. Depression is twice as common in women as in men. + +Anemia + +Anemia (uh-NEE-me-eh) is a condition in which your blood has a lower than normal number of red blood cells. + +The condition also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen from your lungs to the rest of your organs. + +If you have anemia, your organs don't get enough oxygen-rich blood. This causes your heart to work harder, which may raise your risk for CHD. + +Anemia has many causes. For more information, go to the Health Topics Anemiaarticle. + +Sleep Apnea + +Sleep apneais a common disorder that causes pauses in breathing or shallow breaths while you sleep. Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. + +Typically, normal breathing starts again after the pause, sometimes with a loud snort or choking sound. Major signs of sleep apnea are snoring and daytime sleepiness. + +When you stop breathing, the lack of oxygen triggers your body's stress hormones. This causes blood pressure to rise and makes the blood more likely to clot. + +Untreated sleep apnea can raise your risk for high blood pressure, diabetes, and even a heart attack or stroke. + +Women are more likely to develop sleep apnea after menopause. + +Risk Factors You Can't Control + +Age and Menopause + +As you get older, your risk for CHD and heart attack rises. This is due in part to the slow buildup of plaque inside your heart arteries, which can start during childhood. + +Before age 55, women have a lower risk for CHD than men. Estrogen provides women with some protection against CHD before menopause. After age 55, however, the risk of CHD increases in both women and men. + +You may have gone through early menopause, either naturally or because you had your ovaries removed. If so, you're twice as likely to develop CHD as women of the same age who aren't yet menopausal. + +Another reason why women are at increased risk for CHD after age 55 is that middle age is when you tend to develop other CHD risk factors. + +Women who have gone through menopause also are at increased risk for broken heart syndrome. (For more information, go to the section on emerging risk factors below.) + +Family History + +Family history plays a role in CHD risk. Your risk increases if your father or a brother was diagnosed with CHD before 55 years of age, or if your mother or a sister was diagnosed with CHD before 65 years of age. + +Also, a family history of strokeespecially a mother's stroke historycan help predict the risk of heart attack in women. + +Having a family history of CHD or stroke doesn't mean that you'll develop heart disease. This is especially true if your affected family member smoked or had other risk factors that were not well treated. + +Making lifestyle changes and taking medicines to treat risk factors often can lessen genetic influences and prevent or delay heart problems. + +Preeclampsia + +Preeclampsia (pre-e-KLAMP-se-ah) is a condition that develops during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. + +These signs usually occur during the second half of pregnancy and go away after delivery. However, your risk of developing high blood pressure later in life increases after having preeclampsia. + +Preeclampsia also is linked to an increased lifetime risk of heart disease, including CHD, heart attack, and heart failure. (Likewise, having heart disease risk factors, such as diabetes or obesity, increases your risk for preeclampsia.) + +If you had preeclampsia during pregnancy, you're twice as likely to develop heart disease as women who haven't had the condition. You're also more likely to develop heart disease earlier in life. + +Preeclampsia is a heart disease risk factor that you can't control. However, if you've had the condition, you should take extra care to try and control other heart disease risk factors. + +The more severe your preeclampsia was, the greater your risk for heart disease. Let your doctor know that you had preeclampsia so he or she can assess your heart disease risk and how to reduce it. + +Emerging Risk Factors + +Research suggests that inflammation plays a role in causing CHD. Inflammation is the body's response to injury or infection. Damage to the arteries' inner walls seems to trigger inflammation and help plaque grow. + +High blood levels of a protein called C-reactive protein (CRP) are a sign of inflammation in the body. Research suggests that women who have high blood levels of CRP are at increased risk for heart attack. + +Also, some inflammatory diseases, such as lupus and rheumatoid arthritis, may increase the risk for CHD. + +Some studies suggest that women who have migraine headaches may be at greater risk for CHD. This is especially true for women who have migraines with auras (visual disturbances), such as flashes of light or zig-zag lines. + +Low bone density and low intake of folate and vitamin B6 also may raise a woman's risk for CHD. + +More research is needed to find out whether calcium supplements with or without vitamin D affect CHD risk. You may want to talk with your doctor to find out whether these types of supplements are right for you. + +Researchers are just starting to learn about broken heart syndrome risk factors. Most women who have this disorder are White and have gone through menopause. + +Many of these women have other heart disease risk factors, such as high blood pressure, high blood cholesterol, diabetes, and smoking. However, these risk factors tend to be less common in women who have broken heart syndrome than in women who have CHD.",NHLBI,Heart Disease in Women +What are the symptoms of Heart Disease in Women ?,"The signs and symptoms ofcoronary heart disease(CHD) may differ between women and men. Some women who have CHD have no signs or symptoms. This is called silent CHD. + +Silent CHD may not be diagnosed until a woman has signs and symptoms of aheart attack, heart failure, or an arrhythmia(irregular heartbeat). + +Other women who have CHD will have signs and symptoms of the disease. + +Heart Disease Signs and Symptoms + + + +A common symptom of CHD isangina.Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. + +In men, angina often feels like pressure or squeezing in the chest. This feeling may extend to the arms. Women can also have these angina symptoms. But women also tend to describe a sharp, burning chest pain. Women are more likely to have pain in the neck, jaw, throat, abdomen, or back. + +In men, angina tends to worsen with physical activity and go away with rest. Women are more likely than men to have angina while they're resting or sleeping. + +In women who havecoronary microvascular disease, angina often occurs during routine daily activities, such as shopping or cooking, rather than while exercising. Mental stress also is more likely to trigger angina pain in women than in men. + +The severity of angina varies. The pain may get worse or occur more often as the buildup of plaque continues to narrow the coronary (heart) arteries. + +Signs and Symptoms Coronary Heart Disease Complications + +Heart Attack + +The most common heart attack symptom in men and women is chest pain or discomfort. However, only half of women who have heart attacks have chest pain. + +Women are more likely than men to report back or neck pain, indigestion, heartburn, nausea (feeling sick to the stomach), vomiting, extreme fatigue (tiredness), or problems breathing. + +Heart attacks also can cause upper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach. Other heart attack symptoms are light-headedness and dizziness, which occur more often in women than men. + +Men are more likely than women to break out in a cold sweat and to report pain in the left arm during a heart attack. + +Heart Failure + +Heart failure is a condition in which your heart can't pump enough blood to meet your body's needs. Heart failure doesn't mean that your heart has stopped or is about to stop working. It means that your heart can't cope with the demands of everyday activities. + +Heart failure causes shortness of breath and fatigue that tends to increase with physical exertion. Heart failure also can cause swelling in the feet, ankles, legs, abdomen, and veins in the neck. + +Arrhythmia + +An arrhythmia is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. + +Some people describe arrhythmias as fluttering or thumping feelings or skipped beats in their chests. These feelings are calledpalpitations. + +Some arrhythmias can cause your heart to suddenly stop beating. This condition is calledsudden cardiac arrest(SCA). SCA causes loss of consciousness and death if it's not treated right away. + +Signs and Symptoms of Broken Heart Syndrome + +The most common signs and symptoms of broken heart syndrome are chest pain and shortness of breath. In this disorder, these symptoms tend to occur suddenly in people who have no history of heart disease. + +Arrhythmias orcardiogenic shockalso may occur. Cardiogenic shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. + +Some of the signs and symptoms of broken heart syndrome differ from those of heart attack. For example, in people who have broken heart syndrome: + +Symptoms occur suddenly after having extreme emotional or physical stress. + +EKG (electrocardiogram) results don't look the same as the EKG results for a person having a heart attack. (An EKG is a test that records the heart's electrical activity.) + +Blood tests show no signs or mild signs of heart damage. + +Tests show no signs of blockages in the coronary arteries. + +Tests show ballooning and unusual movement of the lower left heart chamber (left ventricle). + +Recovery time is quick, usually within days or weeks (compared with the recovery time of a month or more for a heart attack).",NHLBI,Heart Disease in Women +How to diagnose Heart Disease in Women ?,"Your doctor will diagnosecoronary heart disease(CHD) based on your medical and family histories, your risk factors, a physical exam, and the results from tests and procedures. + +No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests. + +EKG (Electrocardiogram) + +An EKGis a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. + +Stress Testing + +Duringstress testing,you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicines to increase your heart rate. + +When your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed coronary (heart) arteries can't supply enough oxygen-rich blood to meet your heart's needs. + +A stress test can show possible signs and symptoms of CHD, such as: + +Abnormal changes in your heart rate or blood pressure + +Shortness of breath or chest pain + +Abnormal changes in your heart rhythm or your heart's electrical activity + +If you can't exercise for as long as what is considered normal for someone your age, your heart may not be getting enough oxygen-rich blood. However, other factors also can prevent you from exercising long enough (for example, lung diseases,anemia, or poor general fitness). + +As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in your heart and how well your heart pumps blood when it beats. + +Echocardiography + +Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test provides information about the size and shape of your heart and how well your heart chambers and valves are working. + +Echo also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +Chest X Ray + +Achest x raycreates pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. + +A chest x ray can reveal signs ofheart failure, as well as lung disorders and other causes of symptoms not related to CHD. + +Blood Tests + +Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels may be a sign that you're at risk for CHD. Blood tests also help detectanemia,a risk factor for CHD. + +During a heart attack, heart muscle cells die and release proteins into the bloodstream. Blood tests can measure the amount of these proteins in the bloodstream. High levels of these proteins are a sign of a recent heart attack. + +Coronary Angiography and Cardiac Catheterization + +Your doctor may recommendcoronary angiography(an-jee-OG-rah-fee) if other tests or factors suggest you have CHD. This test uses dye and special x rays to look inside your coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure calledcardiac catheterization(KATH-eh-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. + +Coronary angiography detects blockages in the large coronary arteries. However, the test doesn't detectcoronary microvascular disease(MVD). This is because coronary MVD doesn't cause blockages in the large coronary arteries. + +Even if the results of your coronary angiography are normal, you may still have chest pain or other CHD symptoms. If so, talk with your doctor about whether you might have coronary MVD. + +Your doctor may ask you to fill out a questionnaire called the Duke Activity Status Index. This questionnaire measures how easily you can do routine tasks. It gives your doctor information about how well blood is flowing through your coronary arteries. + +Your doctor also may recommend other tests that measure blood flow in the heart, such as acardiac MRI (magnetic resonance imaging) stress test. + +Cardiac MRI uses radio waves, magnets, and a computer to create pictures of your heart as it beats. The test produces both still and moving pictures of your heart and major blood vessels. + +Other tests done during cardiac catheterization can check blood flow in the heart's small arteries and the thickness of the artery walls. + +Tests Used To Diagnose Broken Heart Syndrome + +If your doctor thinks you have broken heart syndrome, he or she may recommend coronary angiography. Other tests are also used to diagnose this disorder, including blood tests, EKG, echo, and cardiac MRI.",NHLBI,Heart Disease in Women +What are the treatments for Heart Disease in Women ?,"Treatment forcoronary heart disease (CHD) usually is the same for both women and men. Treatment may include lifestyle changes, medicines, medical and surgical procedures, andcardiac rehabilitation(rehab). + +The goals of treatment are to: + +Relieve symptoms. + +Reduce risk factors in an effort to slow, stop, or reverse the buildup of plaque. + +Lower the risk of blood clots forming. (Blood clots can cause aheart attack.) + +Widen or bypass plaque-clogged coronary (heart) arteries. + +Prevent CHD complications. + +Lifestyle Changes + +Making lifestyle changes can help prevent or treat CHD. These changes may be the only treatment that some people need. + +Quit Smoking + +If you smoke or use tobacco, try to quit. Smoking can raise your risk for CHD and heart attack and worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. + +If you find it hard to quit smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) ""Your Guide to a Healthy Heart."" + +Follow a Healthy Diet + +A healthy diet is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. These foods can be fresh, canned, frozen, or dried. A good rule is to try to fill half of your plate with vegetables and fruits. + +A healthy diet also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas. + +Choose and prepare foods with little sodium (salt). Too much salt can raise your risk for high blood pressure. Studies show that following the Dietary Approaches to Stop Hypertension (DASH) eating plan can lower blood pressure. + +Try to avoid foods and drinks that are high in added sugars. For example, drink water instead of sugary drinks, like soda. + +Also, try to limit the amount of solid fats and refined grains that you eat. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber). + +If you drink alcohol, do so in moderation. Research suggests that regularly drinking small to moderate amounts of alcohol may lower the risk of CHD. Women should have no more than one alcoholic drink a day. + +One drink a day can lower your CHD risk by raising your HDL cholesterol level. One drink is a glass of wine, beer, or a small amount of hard liquor. + +If you don't drink, this isn't a recommendation to start using alcohol. Also, you shouldn't drink if you're pregnant, if you're planning to become pregnant, or if you have another health condition that could make alcohol use harmful. + +Too much alcohol can cause you to gain weight and raise your blood pressure and triglyceride level. In women, even one drink a day may raise the risk of certain types of cancer. + +For more information about following a healthy diet, go to the NHLBI's ""Your Guide to Lowering Your Blood Pressure With DASH"" and the U.S. Department of Agriculture's ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating. + +Be Physically Active + +Regular physical activity can lower many CHD risk factors, including high LDL cholesterol,high blood pressure, and excess weight. + +Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. (HDL cholesterol helps remove cholesterol from your arteries.) + +Talk with your doctor before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you. + +People gain health benefits from as little as 60 minutes of moderate-intensity aerobic activity per week. Walking is an excellent heart healthy exercise. The more active you are, the more you will benefit. + +For more information about physical activity, go to the U.S. Department of Health and Human Services' ""2008 Physical Activity Guidelines for Americans,"" the Health Topics Physical Activity and Your Heart article, and the NHLBI's ""Your Guide to Physical Activity and Your Heart."" + +Maintain a Healthy Weight + +Overweight and obesity are risk factors for CHD. If you're overweight or obese, try to lose weight. Cut back your calorie intake and do more physical activity. Eat smaller portions and choose lower calorie foods. Your health care provider may refer you to a dietitian to help you manage your weight. + +A BMI of less than 25 and a waist circumference of 35 inches or less is the goal for preventing and treating CHD. BMI measures your weight in relation to your height and gives an estimate of your total body fat. You can use the NHLBI's online BMI calculator to figure out your BMI, or your doctor can help you. + +To measure your waist, stand and place a tape measure around your middle, just above your hipbones. Measure your waist just after you breathe out. Make sure the tape is snug but doesn't squeeze the flesh. + +For more information about losing weight or maintaining a healthy weight, go to the NHLBI's Aim for a Healthy Weight Web site. + +Stress and Depression + +Research shows that getting upset or angry can trigger a heart attack. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingaren't heart healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. + +Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, yoga, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program. + +Depression can double or triple your risk for CHD. Depression also makes it hard to maintain a heart healthy lifestyle. + +Talk with your doctor if you have symptoms of depression, such as feeling hopeless or not taking interest in daily activities. He or she may recommend counseling or prescribe medicines to help you manage the condition. + +Medicines + +You may need medicines to treat CHD if lifestyle changes aren't enough. Medicines can help: + +Reduce your heart's workload and relieve CHD symptoms + +Decrease your chance of having a heart attack or dying suddenly + +Lower your LDL cholesterol, blood pressure, and other CHD risk factors + +Prevent blood clots + +Prevent or delay the need for a procedure or surgery, such asangioplasty (AN-jee-oh-plas-tee) or coronary artery bypass grafting (CABG) + +Women who havecoronary microvascular disease and anemiamay benefit from taking medicine to treat the anemia. + +Women who have broken heart syndrome also may need medicines. Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Most people who have broken heart syndrome make a full recovery within weeks. + +Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options. + +Menopausal Hormone Therapy + +Recent studies have shown that menopausal hormone therapy (MHT) doesn't prevent CHD. Some studies have even shown that MHT increases women's risk for CHD, stroke, and breast cancer. + +However, these studies tested MHT on women who had been postmenopausal for at least several years. During that time, they could have already developed CHD. + +Research is ongoing to see whether MHT helps prevent CHD when taken right when menopause starts. While questions remain, current findings suggest MHT shouldn't routinely be used to prevent or treat CHD. + +Ask your doctor about other ways to prevent or treat CHD, including lifestyle changes and medicines. For more information about MHT, go to the NHLBI's Postmenopausal Hormone Therapy Web site. + +Procedures and Surgery + +You may need a procedure or surgery to treat CHD. Both angioplasty and CABG are used as treatments. You and your doctor can discuss which treatment is right for you. + +Percutaneous Coronary Intervention + +Percutaneous coronary intervention (PCI), commonly known as angioplasty (AN-jee-oh-plas-tee), is a nonsurgical procedure that opens blocked or narrowed coronary arteries. + +A thin, flexible tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. Once in place, the balloon is inflated to compress the plaque against the wall of the artery. This restores blood flow through the artery. + +PCI can improve blood flow to your heart and relieve chest pain. A small mesh tube called a stent usually is placed in the artery to help keep it open after the procedure. + +For more information, go to the Health Topics PCI article. + +Coronary Artery Bypass Grafting + +CABG is a type of surgery. During CABG, a surgeon removes arteries or veins from other areas in your body and uses them to bypass (that is, go around) narrowed or blocked coronary arteries. + +CABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack. + +For more information, go to the Health Topics Coronary Artery Bypass Grafting article. + +Cardiac Rehabilitation + +Your doctor may prescribe cardiac rehab foranginaor after angioplasty, CABG, or a heart attack. Almost everyone who has CHD can benefit from cardiac rehab. + +Cardiac rehab is a medically supervised program that can improve the health and well-being of people who have heart problems. + +The cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists. + +Cardiac rehab has two parts: + +Exercise training. This part of rehab helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests. + +Education, counseling, and training. This part of rehab helps you understand your heart condition and find ways to lower your risk for future heart problems. The rehab team will help you learn how to cope with the stress of adjusting to a new lifestyle and with your fears about the future. + +For more information, go to the Health Topics Cardiac Rehabilitation article.",NHLBI,Heart Disease in Women +How to prevent Heart Disease in Women ?,"Taking action to control your risk factors can help prevent or delaycoronary heart disease(CHD). Your risk for CHD increases with the number of CHD risk factors you have. + +One step you can take is to adopt a heart healthy lifestyle. A heart healthy lifestyle should be part of a lifelong approach to healthy living. + +For example, if you smoke, try to quit. Smoking can raise your risk for CHD andheart attackand worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. + +For more information about quitting smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) ""Your Guide to a Healthy Heart."" + +Following a healthy diet also is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas. + +A healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber). + +The NHLBI's Therapeutic Lifestyle Changes (TLC) and Dietary Approaches to Stop Hypertension (DASH) are two programs that promote healthy eating. + +If you'reoverweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors. + +Be as physically active as you can. Physical activity can improve your fitness level and your health. Talk with your doctor about what types of activity are safe for you. + +For more information about physical activity, go to the Health Topics Physical Activity and Your Heart article and the NHLBI's ""Your Guide to Physical Activity and Your Heart."" + +Know your family history of CHD. If you or someone in your family has CHD, be sure to tell your doctor. + +If lifestyle changes aren't enough, you also may need medicines to control your CHD risk factors. Take all of your medicines as prescribed. + +For more information about lifestyle changes and medicines, go to ""How Is Heart Disease Treated?""",NHLBI,Heart Disease in Women +What is (are) Heart Attack ?,"Espaol + +A heart attack happens when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart cant get oxygen. If blood flow isnt restored quickly, the section of heart muscle begins to die. + +Heart attack treatment works best when its given right after symptoms occur. If you think you or someone else is having a heart attack, even if youre not sure, call 911 right away. + +Overview + +Heart attacks most often occur as a result of coronary heart disease (CHD), also called coronary artery disease. CHD is a condition in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart. + +When plaque builds up in the arteries, the condition is called atherosclerosis. The buildup of plaque occurs over many years. + +Eventually, an area of plaque can rupture (break open) inside of an artery. This causes a blood clot to form on the plaque's surface. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. + +If the blockage isn't treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems. + +Heart With Muscle Damage and a Blocked Artery + + + +A less common cause of heart attack is a severe spasm (tightening) of a coronary artery. The spasm cuts off blood flow through the artery. Spasms can occur in coronary arteries that aren't affected by atherosclerosis. + +Heart attacks can be associated with or lead to severe health problems, such as heart failure and life-threatening arrhythmias. + +Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Arrhythmias are irregular heartbeats. Ventricular fibrillation is a life-threatening arrhythmia that can cause death if not treated right away. + +Don't Wait--Get Help Quickly + +Acting fast at the first sign of heart attack symptoms can save your life and limit damage to your heart. Treatment works best when it's given right after symptoms occur. + + + +Many people aren't sure what's wrong when they are having symptoms of a heart attack. Some of the most common warning symptoms of a heart attack for both men and women are: + +Chest pain or discomfort.Most heart attacks involve discomfort in the center or left side of the chest. The discomfort usually lasts more than a few minutes or goes away and comes back. It can feel like pressure, squeezing, fullness, or pain. It also can feel like heartburn or indigestion. + +Upper body discomfort.You may feel pain or discomfort in one or both arms, the back, shoulders, neck, jaw, or upper part of the stomach (above the belly button). + +Shortness of breath.This may be your only symptom, or it may occur before or along with chest pain or discomfort. It can occur when you are resting or doing a little bit of physical activity. + +Other possible symptoms of a heart attack include: + +Breaking out in a cold sweat + +Feeling unusually tired for no reason, sometimes for days (especially if you are a woman) + +Nausea (feeling sick to the stomach) and vomiting + +Light-headedness or sudden dizziness + +Any sudden, new symptom or a change in the pattern of symptoms you already have (for example, if your symptoms become stronger or last longer than usual) + +Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies, or other common symptoms such as chest discomfort. The symptoms of a heart attack can vary from person to person. Some people can have few symptoms and are surprised to learn they've had a heart attack. If you've already had a heart attack, your symptoms may not be the same for another one. + +Quick Action Can Save Your Life: Call 911 + +If you think you or someone else may be having heart attack symptoms or a heart attack, don't ignore it or feel embarrassed to call for help. Call 911 for emergency medical care. Acting fast can save your life. + +Do not drive to the hospital or let someone else drive you. Call an ambulance so that medical personnel can begin life-saving treatment on the way to the emergency room. Take a nitroglycerin pill if your doctor has prescribed this type of treatment.",NHLBI,Heart Attack +What causes Heart Attack ?,"Coronary Heart Disease + +A heart attack happens if the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart can't get oxygen. Most heart attacks occur as a result of coronary heart disease (CHD). + +CHD is a condition in which a waxy substance called plaque builds up inside of the coronary arteries. These arteries supply oxygen-rich blood to your heart. + +When plaque builds up in the arteries, the condition is called atherosclerosis. The buildup of plaque occurs over many years. + +Eventually, an area of plaque can rupture (break open) inside of an artery. This causes a blood clot to form on the plaque's surface. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. + +If the blockage isn't treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems. + +Coronary Artery Spasm + +A less common cause of heart attack is a severe spasm (tightening) of a coronary artery. The spasm cuts off blood flow through the artery. Spasms can occur in coronary arteries that aren't affected by atherosclerosis. + +What causes a coronary artery to spasm isn't always clear. A spasm may be related to: + +Taking certain drugs, such as cocaine + +Emotional stress or pain + +Exposure to extreme cold + +Cigarette smoking",NHLBI,Heart Attack +Who is at risk for Heart Attack? ?,"Certain risk factors make it more likely that you'll develop coronary heart disease (CHD) and have a heart attack. You can control many of these risk factors. + +Risk Factors You Can Control + +The major risk factors for a heart attack that you can control include: + +Smoking + +High blood pressure + +High blood cholesterol + +Overweight and obesity + +An unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium) + +Lack of routine physical activity + +High blood sugar due to insulin resistance or diabetes + +Some of these risk factorssuch as obesity, high blood pressure, and high blood sugartend to occur together. When they do, it's called metabolic syndrome. + +In general, a person who has metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone who doesn't have metabolic syndrome. + +For more information about the risk factors that are part of metabolic syndrome, go to the Health Topics Metabolic Syndrome article. + +Risk Factors You Can't Control + +Risk factors that you can't control include: + +Age. The risk of heart disease increases for men after age 45 and for women after age 55 (or after menopause). + +Family history of early heart disease. Your risk increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age. + +Preeclampsia (pre-e-KLAMP-se-ah). This condition can develop during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure.",NHLBI,Heart Attack +What are the symptoms of Heart Attack ?,"Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. In one study, for example, one-third of the patients who had heart attacks had no chest pain. These patients were more likely to be older, female, or diabetic. + +The symptoms of a heart attack can vary from person to person. Some people can have few symptoms and are surprised to learn they've had a heart attack. If you've already had a heart attack, your symptoms may not be the same for another one. It is important for you to know the most common symptoms of a heart attack and also remember these facts: + +Heart attacks can start slowly and cause only mild pain or discomfort. Symptoms can be mild or more intense and sudden. Symptoms also may come and go over several hours. + +People who have high blood sugar (diabetes) may have no symptoms or very mild ones. + +The most common symptom, in both men and women, is chest pain or discomfort. + +Women are somewhat more likely to have shortness of breath, nausea and vomiting, unusual tiredness (sometimes for days), and pain in the back, shoulders, and jaw. + +Some people don't have symptoms at all. Heart attacks that occur without any symptoms or with very mild symptoms are called silent heart attacks. + +Most Common Symptoms + +The most common warning symptoms of a heart attack for both men and women are: + +Chest pain or discomfort.Most heart attacks involve discomfort in the center or left side of the chest. The discomfort usually lasts for more than a few minutes or goes away and comes back. It can feel like pressure, squeezing, fullness, or pain. It also can feel like heartburn or indigestion. The feeling can be mild or severe. + +Upper body discomfort.You may feel pain or discomfort in one or both arms, the back, shoulders, neck, jaw, or upper part of the stomach (above the belly button). + +Shortness of breath.This may be your only symptom, or it may occur before or along with chest pain or discomfort. It can occur when you are resting or doing a little bit of physical activity. + +The symptoms of angina (an-JI-nuh or AN-juh-nuh) can be similar to the symptoms of a heart attack. Angina is chest pain that occurs in people who have coronary heart disease, usually when they're active. Angina pain usually lasts for only a few minutes and goes away with rest. + +Chest pain or discomfort that doesn't go away or changes from its usual pattern (for example, occurs more often or while you're resting) can be a sign of a heart attack. + +All chest pain should be checked by a doctor. + +Other Common Signs and Symptoms + +Pay attention to these other possible symptoms of a heart attack: + +Breaking out in a cold sweat + +Feeling unusually tired for no reason, sometimes for days (especially if you are a woman) + +Nausea (feeling sick to the stomach) and vomiting + +Light-headedness or sudden dizziness + +Any sudden, new symptoms or a change in the pattern of symptoms you already have (for example, if your symptoms become stronger or last longer than usual) + +Not everyone having a heart attack has typical symptoms. If you've already had a heart attack, your symptoms may not be the same for another one. However, some people may have a pattern of symptoms that recur. + +The more signs and symptoms you have, the more likely it is that you're having a heart attack. + +Quick Action Can Save Your Life: Call 911 + +The signs and symptoms of a heart attack can develop suddenly. However, they also can develop slowlysometimes within hours, days, or weeks of a heart attack. + +Any time you think you might be having heart attack symptoms or a heart attack, don't ignore it or feel embarrassed to call for help. Call 911 for emergency medical care, even if you are not sure whether you're having a heart attack. Here's why: + +Acting fast can save your life. + +An ambulance is the best and safest way to get to the hospital. Emergency medical services (EMS) personnel can check how you are doing and start life-saving medicines and other treatments right away. People who arrive by ambulance often receive faster treatment at the hospital. + +The 911 operator or EMS technician can give you advice. You might be told to crush or chew an aspirin if you're not allergic, unless there is a medical reason for you not to take one. Aspirin taken during a heart attack can limit the damage to your heart and save your life. + +Every minute matters. Never delay calling 911 to take aspirin or do anything else you think might help.",NHLBI,Heart Attack +How to diagnose Heart Attack ?,"Your doctor will diagnose a heart attack based on your signs and symptoms, your medical and family histories, and test results. + +Diagnostic Tests + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +An EKG can show signs of heart damage due to coronary heart disease (CHD) and signs of a previous or current heart attack. + +Blood Tests + +During a heart attack, heart muscle cells die and release proteins into the bloodstream. Blood tests can measure the amount of these proteins in the bloodstream. Higher than normal levels of these proteins suggest a heart attack. + +Commonly used blood tests include troponin tests, CK or CKMB tests, and serum myoglobin tests. Blood tests often are repeated to check for changes over time. + +Coronary Angiography + +Coronary angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your coronary arteries. This test often is done during a heart attack to help find blockages in the coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through the coronary arteries. The dye lets your doctor study the flow of blood through the heart and blood vessels. + +If your doctor finds a blockage, he or she may recommend a procedure calledpercutaneous (per-ku-TA-ne-us) coronary intervention (PCI), sometimes referred to ascoronary angioplasty(AN-jee-oh-plas-tee). This procedure can help restore blood flow through a blocked artery. Sometimes a small mesh tube called a stent is placed in the artery to help prevent blockages after the procedure.",NHLBI,Heart Attack +What are the treatments for Heart Attack ?,"Early treatment for a heart attack can prevent or limit damage to the heart muscle. Acting fast, by calling 911 at the first symptoms of a heart attack, can save your life. Medical personnel can begin diagnosis and treatment even before you get to the hospital. + +Immediate Treatment + +Certain treatments usually are started right away if a heart attack is suspected, even before the diagnosis is confirmed. These include: + +Aspirin to prevent further blood clotting + +Nitroglycerin to reduce your hearts workload and improve blood flow through the coronary arteries + +Oxygen therapy + +Treatment for chest pain + +Once the diagnosis of a heart attack is confirmed or strongly suspected, doctors start treatments promptly to try to restore blood flow through the blood vessels supplying the heart. The two main treatments are clot-busting medicines and percutaneous coronary intervention, also known as coronary angioplasty, a procedure used to open blocked coronary arteries. + + + +Clot-Busting Medicines + +Thrombolytic medicines, also called clot busters, are used to dissolve blood clots that are blocking the coronary arteries. To work best, these medicines must be given within several hours of the start of heart attack symptoms. Ideally, the medicine should be given as soon as possible. + + + +Percutaneous Coronary Intervention + +Percutaneous coronary intervention is a nonsurgical procedure that opens blocked or narrowed coronary arteries. A thin, flexible tube (catheter) with a balloon or other device on the end is threaded through a blood vessel, usually in the groin (upper thigh), to the narrowed or blocked coronary artery. Once in place, the balloon located at the tip of the catheter is inflated to compress the plaque and related clot against the wall of the artery. This restores blood flow through the artery. During the procedure, the doctor may put a small mesh tube called a stent in the artery. The stent helps to keep the blood vessel open to prevent blockages in the artery in the months or years after the procedure. + +Other Treatments for Heart Attack + +Other treatments for heart attack include: + +Medicines + +Medical procedures + +Heart-healthy lifestyle changes + +Cardiac rehabilitation + + + +Medicines + +Your doctor may prescribe one or more of the following medicines. + +ACE inhibitors. ACE inhibitors lower blood pressure and reduce strain on your heart. They also help slow down further weakening of the heart muscle. + +Anticlotting medicines. Anticlotting medicines stop platelets from clumping together and forming unwanted blood clots. Examples of anticlotting medicines include aspirin and clopidogrel. + +Anticoagulants. Anticoagulants, or blood thinners, prevent blood clots from forming in your arteries. These medicines also keep existing clots from getting larger. + +Beta blockers. Beta blockers decrease your hearts workload. These medicines also are used to relieve chest pain and discomfort and to help prevent another heart attack. Beta blockers also are used to treat arrhythmias (irregular heartbeats). + +Statin medicines. Statins control or lower your blood cholesterol. By lowering your blood cholesterol level, you can decrease your chance of having another heart attack orstroke. + +You also may be given medicines to relieve pain and anxiety, and treat arrhythmias.Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. + + + +Medical Procedures + +Coronary artery bypass grafting also may be used to treat a heart attack. During coronary artery bypass grafting, a surgeon removes a healthy artery or vein from your body. The artery or vein is then connected, or grafted, to bypass the blocked section of the coronary artery. The grafted artery or vein bypasses (that is, goes around) the blocked portion of the coronary artery. This provides a new route for blood to flow to the heart muscle. + + + +Heart-Healthy Lifestyle Changes + +Treatment for a heart attack usually includes making heart-healthy lifestyle changes. Your doctor also may recommend: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Taking these steps can lower your chances of having another heart attack. + + + +Heart-Healthy Eating + +Your doctor may recommend a heart-healthy eating plan, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +If you eat: + +Try to eat no more than: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + + + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease and heart attack. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + + + +Managing Stress + +Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + + + +Physical Activity + +Routine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent another heart attack. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines for Americans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + + + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhandsmoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + + + +Cardiac Rehabilitation + +Your doctor may recommend cardiac rehabilitation (cardiac rehab) to help you recover from a heart attack and to help prevent another heart attack. Nearly everyone who has had a heart attack can benefit from rehab. Cardiac rehab is a medically supervised program that may help improve the health and well-being of people who have heart problems. + +The cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists. + +Rehab has two parts: + +Education, counseling, and training. This part of rehab helps you understand your heart condition and find ways to reduce your risk for future heart problems. The rehab team will help you learn how to cope with the stress of adjusting to a new lifestyle and how to deal with your fears about the future. + +Exercise training. This part helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests.",NHLBI,Heart Attack +How to prevent Heart Attack ?,"Lowering your risk factors for coronary heart disease can help you prevent a heart attack. Even if you already have coronary heart disease, you still can take steps to lower your risk for a heart attack. These steps involve following a heart-healthy lifestyle and getting ongoingmedical care. + +Heart-Healthy Lifestyle + +A heart-healthy lifestyle can help prevent a heart attack and includes heart-healthy eating, being physically active, quitting smoking, managing stress, and managing your weight. + +Ongoing Care + +Treat Related Conditions + +Treating conditions that make a heart attack more likely also can help lower your risk for a heart attack. These conditions may include: + +Diabetes (high blood sugar). If you have diabetes, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed. + +High blood cholesterol. Your doctor may prescribe a statin medicine to lower your cholesterol if diet and exercise arent enough. + +High blood pressure. Your doctor may prescribe medicine to keep your blood pressure under control. + +Have an Emergency Action Plan + +Make sure that you have an emergency action plan in case you or someone in your family has a heart attack. This is very important if youre at high risk for, or have already had, a heart attack. + +Write down a list of medicines you are taking, medicines you are allergic to, your health care providers phone numbers (both during and after office hours), and contact information for a friend or relative. Keep the list in a handy place (for example, fill out this wallet card) to share in a medical emergency. + +Talk with your doctor about the signs and symptoms of a heart attack, when you should call 911, and steps you can take while waiting for medical help to arrive.",NHLBI,Heart Attack +What is (are) Coronary Microvascular Disease ?,"Coronary microvascular disease (MVD) is heart disease that affects the tiny coronary (heart) arteries. In coronary MVD, the walls of the heart's tiny arteries are damaged or diseased. + +Coronary MVD is different from traditional coronary heart disease (CHD), also called coronary artery disease. In CHD, a waxy substance called plaque (plak) builds up in the large coronary arteries. + +Plaque narrows the heart's large arteries and reduces the flow of oxygen-rich blood to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can mostly or completely block blood flow through a coronary artery. + +In coronary MVD, however, the heart's tiny arteries are affected. Plaque doesn't create blockages in these vessels as it does in the heart's large arteries. + +Coronary Microvascular Disease + + + +Overview + +Both men and women who have coronary microvascular disease often have diabetes or high blood pressure. Some people who have coronary microvascular disease may have inherited heart muscle diseases. + +Diagnosing coronary microvascular disease has been a challenge for doctors. Standard tests used to diagnose coronary heart disease arent designed to detect coronary microvascular disease. More research is needed to find the best diagnostic tests and treatments for thedisease. + +Outlook + +Most of what is known about coronary MVD comes from the National Heart, Lung, and Blood Institute's Wise study (Women's Ischemia Syndrome Evaluation). + +The WISE study started in 1996. The goal of the study was to learn more about how heart disease develops in women. + +Currently, research is ongoing to learn more about the role of hormones in heart disease and to find better ways to diagnose coronary MVD. + +Studies also are under way to learn more about the causes of coronary MVD, how to treat the disease, and the expected health outcomes for people with coronary MVD.",NHLBI,Coronary Microvascular Disease +What causes Coronary Microvascular Disease ?,"The same risk factors that cause atherosclerosis may cause coronary microvascular disease. Atherosclerosis is a disease in which plaque builds up inside the arteries. + +Risk factors for atherosclerosis include: + +Diabetes. It is a disease in which the bodys blood sugar level is too high because the body doesnt make enough insulin or doesnt use its insulin properly. + +Family history of early heart disease. Your risk of atherosclerosis increases if your father or a brother was diagnosed with heart disease before age 55, or if your mother or a sister was diagnosed with heart disease before age 65. + +High blood pressure. Blood pressure is considered high if it stays at or above 140/90mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Insulin resistance. This condition occurs if the body cant use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where its used for energy. Overtime, insulin resistance can lead to diabetes. + +Lack of physical activity. Physical inactivity can worsen some other risk factors for atherosclerosis, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity. + +Older age. As you age, your risk for atherosclerosis increases. The process of atherosclerosis begins in youth and typically progresses over many decades before disease develops. + +Overweight and obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height. + +Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also doesnt allow enough oxygen to reach the bodys tissues. + +Unhealthy blood cholesterol levels. This includes high LDL (bad) cholesterol and low HDL (good) cholesterol. + +Unhealthy diet. An unhealthy diet can raise your risk for atherosclerosis. Foods that are high in saturated and trans fats, cholesterol, sodium (salt), and sugar can worsen other risk factors for atherosclerosis. + +In women, coronary microvascular disease also may be linked to low estrogen levels occurring before or after menopause. Also, the disease may be linked to anemia or conditions that affect blood clotting. Anemia is thought to slow the growth of cells needed to repair damaged blood vessels. + +Researchers continue to explore other possible causes of coronary microvascular disease.",NHLBI,Coronary Microvascular Disease +Who is at risk for Coronary Microvascular Disease? ?,"Coronary microvascular disease can affect both men and women. However, women may be at risk for coronary microvascular disease if they have lower than normal levels of estrogen at any point in their adult lives. (This refers to the estrogen that the ovaries produce, not the estrogen used in hormone therapy.) Low estrogen levels before menopause can raise younger womens risk for the disease. Causes of low estrogen levels in younger women can be mental stress or a problem with the function of theovaries. + +The causes of coronary microvascular disease and atherosclerosis are also considered risk factors for the disease.",NHLBI,Coronary Microvascular Disease +What are the symptoms of Coronary Microvascular Disease ?,"The signs and symptoms of coronary microvascular disease (MVD) often differ from the signs and symptoms of traditional coronary heart disease (CHD). + +Many women with coronary MVD have angina (an-JI-nuh or AN-juh-nuh). Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. + +Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. + +Angina also is a common symptom of CHD. However, the angina that occurs in coronary MVD may differ from the typical angina that occurs in CHD. In coronary MVD, the chest pain usually lasts longer than 10 minutes, and it can last longer than 30 minutes. Typical angina is more common in women older than 65. + +Other signs and symptoms of coronary MVD are shortness of breath, sleep problems, fatigue (tiredness), and lack of energy. + +Coronary MVD symptoms often are first noticed during routine daily activities (such as shopping, cooking, cleaning, and going to work) and times of mental stress. It's less likely that women will notice these symptoms during physical activity (such as jogging or walking fast). + +This differs from CHD, in which symptoms often first appear while a person is being physically activesuch as while jogging, walking on a treadmill, or going up stairs.",NHLBI,Coronary Microvascular Disease +How to diagnose Coronary Microvascular Disease ?,"Your doctor will diagnose coronary microvascular disease (MVD) based on your medical history, a physical exam, and test results. He or she will check to see whether you have any risk factors for heart disease. + +For example, your doctor may measure your weight and height to check for overweight or obesity. He or she also may recommend tests for high blood cholesterol, metabolic syndrome, and diabetes. + +Your doctor may ask you to describe any chest pain, including when it started and how it changed during physical activity or periods of stress. He or she also may ask about other symptoms, such as fatigue (tiredness), lack of energy, and shortness of breath. Women may be asked about their menopausal status. + +Specialists Involved + +Cardiologists and doctors who specialize in family and internal medicine might help diagnose and treat coronary MVD. Cardiologists are doctors who specialize in diagnosing and treating heart diseases and conditions. + +Diagnostic Tests + +The risk factors for coronary MVD and traditional coronary heart disease (CHD) often are the same. Thus, your doctor may recommend tests for CHD, such as: + +Coronary angiography (an-jee-OG-rah-fee). This test uses dye and special x rays to show the insides of your coronary arteries. Coronary angiography can show plaque buildup in the large coronary arteries. This test often is done during a heart attack to help find blockages in the coronary arteries. + +Stress testing. This test shows how blood flows through your heart during physical stress, such as exercise. Even if coronary angiography doesn't show plaque buildup in the large coronary arteries, a stress test may still show abnormal blood flow. This may be a sign of coronary MVD. + +Cardiac MRI (magnetic resonance imaging) stress test. Doctors may use this test to evaluate people who have chest pain. + +Unfortunately, standard tests for CHD aren't designed to detect coronary MVD. These tests look for blockages in the large coronary arteries. Coronary MVD affects the tiny coronary arteries. + +If test results show that you don't have CHD, your doctor might still diagnose you with coronary MVD. This could happen if signs are present that not enough oxygen is reaching your heart's tiny arteries. + +Coronary MVD symptoms often first occur during routine daily tasks. Thus, your doctor may ask you to fill out a questionnaire called the Duke Activity Status Index (DASI). The questionnaire will ask you how well you're able to do daily activities, such as shopping, cooking, and going to work. + +The DASI results will help your doctor decide which kind of stress test you should have. The results also give your doctor information about how well blood is flowing through your coronary arteries. + +Your doctor also may recommend blood tests, including a test for anemia. Anemia is thought to slow the growth of cells needed to repair damaged blood vessels. + +Research is ongoing for better ways to detect and diagnose coronary MVD. Currently, researchers have not agreed on the best way to diagnose the disease.",NHLBI,Coronary Microvascular Disease +What are the treatments for Coronary Microvascular Disease ?,"Relieving pain is one of the main goals of treating coronary microvascular disease (MVD). Treatments also are used to control risk factors and other symptoms. Treatments may include medicines, such as: + +ACE inhibitors and beta blockers to lower blood pressure and decrease the hearts workload + +Aspirin to help prevent blood clots or control inflammation + +Nitroglycerin to relax blood vessels, improve blood flow to the heart muscle, and treat chest pain + +Statin medicines to control or lower your blood cholesterol. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. + +If youre diagnosed with coronary MVD and also haveanemia, you may benefit from treatment for that condition. Anemia is thought to slow the growth of cells needed to repair damaged blood vessels. + +If youre diagnosed with and treated for coronary MVD, you should get ongoing care from your doctor. Research is under way to find the best treatments for coronary MVD.",NHLBI,Coronary Microvascular Disease +How to prevent Coronary Microvascular Disease ?,"No specific studies have been done on how to prevent coronary microvascular disease. + +Researchers dont yet know how or in what way preventing coronary microvascular disease differs from preventing coronary heart disease. Coronary microvascular disease affects the tiny coronary arteries; coronary heart disease affects the large coronary arteries. + +Taking action to control risk factors for heart disease can help prevent or delay coronary heart disease. You cant control some risk factors, such as older age and family history of heart disease. However, you can take steps to prevent or control other risk factors, such as high blood pressure, overweight and obesity, high blood cholesterol, diabetes, and smoking. + +Heart-healthy lifestyle changes and ongoing medical care can help you lower your risk for heartdisease. + +Heart-Healthy Lifestyle Changes + +Your doctor may recommend heart-healthy lifestyle changes if you have coronary microvascular disease. Heart-healthy lifestyle changes include: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Your doctor may recommend a heart-healthy eating plan, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas. + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterollevels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI below 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Routine physical activity can lower many coronary heart disease risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + +Ongoing Medical Care + +Learn more about heart disease and the traits, conditions, and habits that can raise your risk for developing it. Talk with your doctor about your risk factors for heart disease and how to controlthem. + +If lifestyle changes arent enough, your doctor may prescribe medicines to control your risk factors. Take all of your medicines as your doctor advises. Visit your doctor regularly and have recommended testing. + +Know your numbers. Ask your doctor for these three tests and have the results explained toyou: + +Blood pressure measurement. + +Fasting blood glucose. This test is for diabetes. + +Lipoprotein panel. This test measures total cholesterol, LDL (bad) cholesterol, HDL (good) cholesterol, and triglycerides (a type of fat in the blood). + +Finally, know your family history of heart disease. If you or someone in your family has heart disease, tell your doctor.",NHLBI,Coronary Microvascular Disease +What is (are) Sleep Deprivation and Deficiency ?,"Sleep deprivation (DEP-rih-VA-shun) is a condition that occurs if you don't get enough sleep. Sleep deficiency is a broader concept. It occurs if you have one or more of the following: + +You don't get enough sleep (sleep deprivation) + +You sleep at the wrong time of day (that is, you're out of sync with your body's natural clock) + +You don't sleep well or get all of the different types of sleep that your body needs + +You have a sleep disorder that prevents you from getting enough sleep or causes poor quality sleep + +This article focuses on sleep deficiency, unless otherwise noted. + +Sleeping is a basic human need, like eating, drinking, and breathing. Like these other needs, sleeping is a vital part of the foundation for good health and well-being throughout your lifetime. + +Sleep deficiency can lead to physical and mental health problems, injuries, loss of productivity, and even a greater risk of death. + +Overview + +To understand sleep deficiency, it helps to understand how sleep works and why it's important. The two basic types of sleep are rapid eye movement (REM) and non-REM. + +Non-REM sleep includes what is commonly known as deep sleep or slow wave sleep. Dreaming typically occurs during REM sleep. Generally, non-REM and REM sleep occur in a regular pattern of 35 cycles each night. + +Your ability to function and feel well while you're awake depends on whether you're getting enough total sleep and enough of each type of sleep. It also depends on whether you're sleeping at a time when your body is prepared and ready to sleep. + +You have an internal ""body clock"" that controls when you're awake and when your body is ready for sleep. This clock typically follows a 24-hour repeating rhythm (called the circadian rhythm). The rhythm affects every cell, tissue, and organ in your body and how they work. (For more information, go to ""What Makes You Sleep?"") + +If you aren't getting enough sleep, are sleeping at the wrong times, or have poor quality sleep, you'll likely feel very tired during the day. You may not feel refreshed and alert when you wake up. + +Sleep deficiency can interfere with work, school, driving, and social functioning. You might have trouble learning, focusing, and reacting. Also, you might find it hard to judge other people's emotions and reactions. Sleep deficiency also can make you feel frustrated, cranky, or worried in social situations. + +The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer. + +Outlook + +Sleep deficiency is a common public health problem in the United States. People in all age groups report not getting enough sleep. + +As part of a health survey for the Centers for Disease Control and Prevention, about 719 percent of adults in the United States reported not getting enough rest or sleep every day. + +Nearly 40 percent of adults report falling asleep during the day without meaning to at least once a month. Also, an estimated 50 to 70 million Americans have chronic (ongoing) sleep disorders. + +Sleep deficiency is linked to many chronic health problems, including heart disease, kidney disease, high blood pressure, diabetes, stroke, obesity, and depression. + +Sleep deficiency also is associated with an increased risk of injury in adults, teens, and children. For example, driver sleepiness (not related to alcohol) is responsible for serious car crash injuries and death. In the elderly, sleep deficiency might be linked to an increased risk of falls and broken bones. + +In addition, sleep deficiency has played a role in human errors linked to tragic accidents, such as nuclear reactor meltdowns, grounding of large ships, and aviation accidents. + +A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety.",NHLBI,Sleep Deprivation and Deficiency +Who is at risk for Sleep Deprivation and Deficiency? ?,"Sleep deficiency, which includes sleep deprivation, affects people of all ages, races, and ethnicities. Certain groups of people may be more likely to be sleep deficient. Examples include people who: + +Have limited time available for sleep, such as caregivers or people working long hours or more than one job + +Have schedules that conflict with their internal body clocks, such as shift workers, first responders, teens who have early school schedules, or people who must travel for work + +Make lifestyle choices that prevent them from getting enough sleep, such as taking medicine to stay awake, abusing alcohol or drugs, or not leaving enough time for sleep + +Have undiagnosed or untreated medical problems, such as stress, anxiety, or sleep disorders + +Have medical conditions or take medicines that interfere with sleep + +Certain medical conditions have been linked to sleep disorders. These conditions include heart failure, heart disease, obesity, diabetes, high blood pressure, stroke or transient ischemic attack (mini-stroke), depression, and attention-deficit hyperactivity disorder (ADHD). + +If you have or have had one of these conditions, ask your doctor whether you might benefit from a sleep study. + +A sleep study allows your doctor to measure how much and how well you sleep. It also helps show whether you have sleep problems and how severe they are. For more information, go to the Health Topics Sleep Studies article. + +If you have a child who is overweight, talk with the doctor about your child's sleep habits.",NHLBI,Sleep Deprivation and Deficiency +What are the symptoms of Sleep Deprivation and Deficiency ?,"Sleep deficiency can cause you to feel very tired during the day. You may not feel refreshed and alert when you wake up. Sleep deficiency also can interfere with work, school, driving, and social functioning. + +How sleepy you feel during the day can help you figure out whether you're having symptoms of problem sleepiness. You might be sleep deficient if you often feel like you could doze off while: + +Sitting and reading or watching TV + +Sitting still in a public place, such as a movie theater, meeting, or classroom + +Riding in a car for an hour without stopping + +Sitting and talking to someone + +Sitting quietly after lunch + +Sitting in traffic for a few minutes + +Sleep deficiency can cause problems with learning, focusing, and reacting. You may have trouble making decisions, solving problems, remembering things, controlling your emotions and behavior, and coping with change. You may take longer to finish tasks, have a slower reaction time, and make more mistakes. + +The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer. + +Sleep-deficient children may feel angry and impulsive, have mood swings, feel sad or depressed, or lack motivation. + +You may not notice how sleep deficiency affects your daily routine. A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety. + +To find out whether you're sleep deficient, try keeping a sleep diary for a couple of weeks. Write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel during the day. + +Compare the amount of time you sleep each day with the average amount of sleep recommended for your age group, as shown in the chart in ""How Much Sleep Is Enough?"" If you often feel very sleepy, and efforts to increase your sleep don't help, talk with your doctor. + +You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep.""",NHLBI,Sleep Deprivation and Deficiency +What is (are) Varicose Veins ?,"Espaol + +Varicose (VAR-i-kos) veins are swollen, twisted veins that you can see just under the surface of the skin. These veins usually occur in the legs, but they also can form in other parts of the body. + +Varicose veins are a common condition. They usually cause few signs and symptoms. Sometimes varicose veins cause mild to moderate pain, blood clots, skin ulcers (sores), or other problems. + +Overview + +Veins are blood vessels that carry blood from your body's tissues to your heart. Your heart pumps the blood to your lungs to pick up oxygen. The oxygen-rich blood then is pumped to your body through blood vessels called arteries. + +From your arteries, the blood flows through tiny blood vessels called capillaries, where it gives up its oxygen to the body's tissues. Your blood then returns to your heart through your veins to pick up more oxygen. For more information about blood flow, go to the Health Topics How the Heart Works article. + +Veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins. + +Many factors can raise your risk for varicose veins. Examples of these factors include family history, older age, gender, pregnancy, overweight or obesity, lack of movement, and leg trauma. + +Varicose veins are treated with lifestyle changes and medical procedures. The goals of treatment are to relieve symptoms, prevent complications, and improve appearance. + +Outlook + +Varicose veins usually don't cause medical problems. If they do, your doctor may simply suggest making lifestyle changes. + +Sometimes varicose veins cause pain, blood clots, skin ulcers, or other problems. If this happens, your doctor may recommend one or more medical procedures. Some people choose to have these procedures to improve the way their veins look or to relieve pain. + +Many treatments for varicose veins are quick and easy and don't require a long recovery.",NHLBI,Varicose Veins +What causes Varicose Veins ?,"Weak or damaged valves in the veins can cause varicose veins. After your arteries and capillaries deliver oxygen-rich blood to your body, your veins return the blood to your heart. The veins in your legs must work against gravity to do this. + +One-way valves inside the veins open to let blood flow through, and then they shut to keep blood from flowing backward. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell. + +Weak vein walls may cause weak valves. Normally, the walls of the veins are elastic (stretchy). If these walls become weak, they lose their normal elasticity. They become like an overstretched rubber band. This makes the walls of the veins longer and wider, and it causes the flaps of the valves to separate. + +When the valve flaps separate, blood can flow backward through the valves. The backflow of blood fills the veins and stretches the walls even more. As a result, the veins get bigger, swell, and often twist as they try to squeeze into their normal space. These are varicose veins. + +Normal Vein and Varicose Vein + + + +Figure A shows a normal vein with a working valve and normal blood flow. Figure B shows a varicose vein with a deformed valve, abnormal blood flow, and thin, stretched walls. The middle image shows where varicose veins might appear in a leg. + +Older age or a family history of varicose veins may raise your risk for weak vein walls. You also may be at higher risk if you have increased pressure in your veins due to overweight or obesity or pregnancy.",NHLBI,Varicose Veins +Who is at risk for Varicose Veins? ?,"Many factors may raise your risk for varicose veins, including family history, older age, gender, pregnancy, overweight or obesity, lack of movement, and leg trauma. + +Family History + +Having family members who have varicose veins may raise your risk for the condition. About half of all people who have varicose veins have a family history of them. + +Older Age + +Getting older may raise your risk for varicose veins. The normal wear and tear of aging may cause the valves in your veins to weaken and not work well. + +Gender + +Women tend to get varicose veins more often than men. Hormonal changes that occur during puberty, pregnancy, and menopause (or with the use of birth control pills) may raise a woman's risk for varicose veins. + +Pregnancy + +During pregnancy, the growing fetus puts pressure on the veins in the mother's legs. Varicose veins that occur during pregnancy usually get better within 3 to 12 months of delivery. + +Overweight or Obesity + +Being overweight or obese can put extra pressure on your veins. This can lead to varicose veins. For more information about overweight and obesity, go to the Health Topics Overweight and Obesity article. + +Lack of Movement + +Standing or sitting for a long time, especially with your legs bent or crossed, may raise your risk for varicose veins. This is because staying in one position for a long time may force your veins to work harder to pump blood to your heart. + +Leg Trauma + +Previous blood clots or traumatic damage to the valves in your veins can weaken their ability to move blood back to the heart, increasing the risk for varicose veins.",NHLBI,Varicose Veins +What are the symptoms of Varicose Veins ?,"The signs and symptoms of varicose veins include: + +Large veins that you can see just under the surface of your skin. + +Mild swelling of your ankles and feet. + +Painful, achy, or ""heavy"" legs. + +Throbbing or cramping in your legs. + +Itchy legs, especially on the lower leg and ankle. Sometimes this symptom is incorrectly diagnosed as dry skin. + +Discolored skin in the area around the varicose vein. + +Signs of telangiectasias are clusters of red veins that you can see just under the surface of your skin. These clusters usually are found on the upper body, including the face. Signs of spider veins are red or blue veins in a web or tree branch pattern. Often, these veins appear on the legs and face. + +See your doctor if you have these signs and symptoms. They also may be signs of other, more serious conditions. + +Complications of Varicose Veins + +Varicose veins can lead to dermatitis (der-ma-TI-tis), an itchy rash. If you have varicose veins in your legs, dermatitis may affect your lower leg or ankle. Dermatitis can cause bleeding or skin ulcers (sores) if the skin is scratched or irritated. + +Varicose veins also can lead to a condition called superficial thrombophlebitis (THROM-bo-fleh-BI-tis). Thrombophlebitis is a blood clot in a vein. Superficial thrombophlebitis means that the blood clot occurs in a vein close to the surface of the skin. This type of blood clot may cause pain and other problems in the affected area.",NHLBI,Varicose Veins +How to diagnose Varicose Veins ?,"Doctors often diagnose varicose veins based on a physical exam alone. Sometimes tests or procedures are used to find out the extent of the problem or to rule out other conditions. + +Specialists Involved + +If you have varicose veins, you may see a vascular medicine specialist or vascular surgeon. These doctors specialize in blood vessel conditions. You also may see a dermatologist. This type of doctor specializes in skin conditions. + +Physical Exam + +To check for varicose veins in your legs, your doctor will look at your legs while you're standing or sitting with your legs dangling. He or she may ask you about your signs and symptoms, including any pain you're having. + +Diagnostic Tests and Procedures + +Duplex Ultrasound + +Your doctor may recommend duplex ultrasound to check blood flow in your veins and to look for blood clots. Duplex ultrasound combines traditional with Doppler ultrasound. Traditional ultrasound uses sound waves to create apicture of the structures in your body, in this case the blood vessels and anything that may be blocking the flow of blood. Doppler ultrasound uses sound waves to create pictures of the flow or movement of the blood through theveins. The two types of ultrasound together paint a picture that helps your doctor diagnose your condition. + +During this test, a handheld device will be placed on your body and passed back and forth over the affected area. The device sends and receives sound waves. A computer will convert the sound waves into a picture of the blood flow in your arteries and veins. + +Angiogram + +Although it is not very common, your doctor may recommend an angiogram to get a more detailed look at the blood flow through your veins. + +For this procedure, dye is injected into your veins. The dye outlines your veins on x-ray images. + +An angiogram can help your doctor confirm whether you have varicose veins or another condition.",NHLBI,Varicose Veins +What are the treatments for Varicose Veins ?,"Varicose veins are treated with lifestyle changes and medical procedures. The goals of treatment are to relieve symptoms, prevent complications, and improve appearance. + +If varicose veins cause few symptoms, your doctor may simply suggest making lifestyle changes. If your symptoms are more severe, your doctor may recommend one or more medical procedures. For example, you may need a medical procedure if you have a lot of pain, blood clots, or skin disorders caused by your varicose veins. + +Some people who have varicose veins choose to have procedures to improve how their veins look. + +Although treatment can help existing varicose veins, it can't keep new varicose veins from forming. + +Lifestyle Changes + +Lifestyle changes often are the first treatment for varicose veins. These changes can prevent varicose veins from getting worse, reduce pain, and delay other varicose veins from forming. Lifestyle changes include the following: + +Avoid standing or sitting for long periods without taking a break. When sitting, avoid crossing your legs. Keep your legs raised when sitting, resting, or sleeping. When you can, raise your legs above the level of your heart. + +Do physical activities to get your legs moving and improve muscle tone. This helps blood move through your veins. + +If you're overweight or obese, try to lose weight. This will improve blood flow and ease the pressure on your veins. + +Avoid wearing tight clothes, especially those that are tight around your waist, groin (upper thighs), and legs. Tight clothes can make varicose veins worse. + +Avoid wearing high heels for long periods. Lower heeled shoes can help tone your calf muscles. Toned muscles help blood move through the veins. + +Your doctor may recommend compression stockings. These stockings create gentle pressure up the leg. This pressure keeps blood from pooling and decreases swelling in the legs. + +There are three types of compression stockings. One type is support pantyhose. These offer the least amount of pressure. A second type is over-the-counter compression hose. These stockings give a little more pressure than support pantyhose. Over-the-counter compression hose are sold in medical supply stores and pharmacies. + +Prescription-strength compression hose are the third type of compression stockings. These stockings offer the greatest amount of pressure. They also are sold in medical supply stores and pharmacies. However, you need to be fitted for them in the store by a specially trained person. + +Medical Procedures + +Medical procedures are done either to remove varicose veins or to close them. Removing or closing varicose veins usually doesn't cause problems with blood flow because the blood starts moving through other veins. + +You may be treated with one or more of the procedures described below. Common side effects right after most of these procedures include bruising, swelling, skin discoloration, and slight pain. + +The side effects are most severe with vein stripping and ligation (li-GA-shun). Rarely, this procedure can cause severe pain, infections, blood clots, and scarring. + +Sclerotherapy + +Sclerotherapy (SKLER-o-ther-ah-pe) uses a liquid chemical to close off a varicose vein. The chemical is injected into the vein to cause irritation and scarring inside the vein. The irritation and scarring cause the vein to close off, and it fades away. + +This procedure often is used to treat smaller varicose veins and spider veins. It can be done in your doctor's office, while you stand. You may need several treatments to completely close off a vein. + +Treatments typically are done every 4 to 6 weeks. Following treatments, your legs will be wrapped in elastic bandaging to help with healing and decrease swelling. + +Microsclerotherapy + +Microsclerotherapy (MI-kro-SKLER-o-ther-ah-pe) is used to treat spider veins and other very small varicose veins. + +A small amount of liquid chemical is injected into a vein using a very fine needle. The chemical scars the inner lining of the vein, causing it to close off. + +Laser Surgery + +This procedure applies light energy from a laser onto a varicose vein. The laser light makes the vein fade away. + +Laser surgery mostly is used to treat smaller varicose veins. No cutting or injection of chemicals is involved. + +Endovenous Ablation Therapy + +Endovenous ablation (ab-LA-shun) therapy uses lasers or radiowaves to create heat to close off a varicose vein. + +Your doctor makes a tiny cut in your skin near the varicose vein. He or she then inserts a small tube called a catheter into the vein. A device at the tip of the tube heats up the inside of the vein and closes it off. + +You'll be awake during this procedure, but your doctor will numb the area around the vein. You usually can go home the same day as the procedure. + +Endoscopic Vein Surgery + +For endoscopic (en-do-SKOP-ik) vein surgery, your doctor will make a small cut in your skin near a varicose vein. He or she then uses a tiny camera at the end of a thin tube to move through the vein. A surgical device at the end of the camera is used to close the vein. + +Endoscopic vein surgery usually is used only in severe cases when varicose veins are causing skin ulcers (sores). After the procedure, you usually can return to your normal activities within a few weeks. + +Ambulatory Phlebectomy + +For ambulatory phlebectomy (fle-BEK-to-me), your doctor will make small cuts in your skin to remove small varicose veins. This procedure usually is done to remove the varicose veins closest to the surface of your skin. + +You'll be awake during the procedure, but your doctor will numb the area around the vein. Usually, you can go home the same day that the procedure is done. + +Vein Stripping and Ligation + +Vein stripping and ligation typically is done only for severe cases of varicose veins. The procedure involves tying shut and removing the veins through small cuts in your skin. + +You'll be given medicine to temporarily put you to sleep so you don't feel any pain during the procedure. + +Vein stripping and ligation usually is done as an outpatient procedure. The recovery time from the procedure is about 1 to 4 weeks.",NHLBI,Varicose Veins +How to prevent Varicose Veins ?,"You can't prevent varicose veins from forming. However, you can prevent the ones you have from getting worse. You also can take steps to delay other varicose veins from forming. + +Avoid standing or sitting for long periods without taking a break. When sitting, avoid crossing your legs. Keep your legs raised when sitting, resting, or sleeping. When you can, raise your legs above the level of your heart. + +Do physical activities to get your legs moving and improve muscle tone. This helps blood move through your veins. + +If you're overweight or obese, try to lose weight. This will improve blood flow and ease the pressure on your veins. + +Avoid wearing tight clothes, especially those that are tight around your waist, groin (upper thighs), and legs. Tight clothes can make varicose veins worse. + +Avoid wearing high heels for long periods. Lower heeled shoes can help tone your calf muscles. Toned muscles help blood move through the veins. + +Wear compression stockings if your doctor recommends them. These stockings create gentle pressure up the leg. This pressure keeps blood from pooling in the veins and decreases swelling in the legs.",NHLBI,Varicose Veins +What is (are) ARDS ?,"ARDS, or acute respiratory distress syndrome, is a lung condition that leads to low oxygen levels in the blood. ARDS can be life threatening because your body's organs need oxygen-rich blood to work well. + +People who develop ARDS often are very ill with another disease or have major injuries. They might already be in the hospital when they develop ARDS. + +Overview + +To understand ARDS, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). + +Small blood vessels called capillaries (KAP-ih-lare-ees) run through the walls of the air sacs. Oxygen passes from the air sacs into the capillaries and then into the bloodstream. Blood carries the oxygen to all parts of the body, including the body's organs. + +In ARDS, infections, injuries, or other conditions cause fluid to build up in the air sacs. This prevents the lungs from filling with air and moving enough oxygen into the bloodstream. + +As a result, the body's organs (such as the kidneys and brain) don't get the oxygen they need. Without oxygen, the organs may not work well or at all. + +People who develop ARDS often are in the hospital for other serious health problems. Rarely, people who aren't hospitalized have health problems that lead to ARDS, such as severe pneumonia. + +If you have trouble breathing, call your doctor right away. If you have severe shortness of breath, call 911. + +Outlook + +More people are surviving ARDS now than in the past. One likely reason for this is that treatment and care for the condition have improved. Survival rates for ARDS vary depending on age, the underlying cause of ARDS, associated illnesses, and other factors. + +Some people who survive recover completely. Others may have lasting damage to their lungs and other health problems. + +Researchers continue to look for new and better ways to treat ARDS.",NHLBI,ARDS +What causes ARDS ?,"Many conditions or factors can directly or indirectly injure the lungs and lead to ARDS. Some common ones are: + +Sepsis. This is a condition in which bacteria infect the bloodstream. + +Pneumonia. This is an infection in the lungs. + +Severe bleeding caused by an injury to the body. + +An injury to the chest or head, like a severe blow. + +Breathing in harmful fumes or smoke. + +Inhaling vomited stomach contents from the mouth. + +It's not clear why some very sick or seriously injured people develop ARDS and others don't. Researchers are trying to find out why ARDS develops and how to prevent it.",NHLBI,ARDS +Who is at risk for ARDS? ?,"People at risk for ARDS have a condition or illness that can directly or indirectly injure their lungs. + +Direct Lung Injury + +Conditions that can directly injure the lungs include: + +Pneumonia. This is an infection in the lungs. + +Breathing in harmful fumes or smoke. + +Inhaling vomited stomach contents from the mouth. + +Using a ventilator. This is a machine that helps people breathe; rarely, it can injure the lungs. + +Nearly drowning. + +Indirect Lung Injury + +Conditions that can indirectly injure the lungs include: + +Sepsis. This is a condition in which bacteria infect the bloodstream. + +Severe bleeding caused by an injury to the body or having many blood transfusions. + +An injury to the chest or head, such as a severe blow. + +Pancreatitis (PAN-kre-a-TI-tis). This is a condition in which the pancreas becomes irritated or infected. The pancreas is a gland that releases enzymes and hormones. + +Fat embolism (EM-bo-lizm). This is a condition in which fat blocks an artery. A physical injury, like a broken bone, can lead to a fat embolism. + +Drug reaction.",NHLBI,ARDS +What are the symptoms of ARDS ?,"The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level. + +Other signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and fever before you feel short of breath. + +Sometimes people who have ARDS develop signs and symptoms such as low blood pressure, confusion, and extreme tiredness. This may mean that the body's organs, such as the kidneys and heart, aren't getting enough oxygen-rich blood. + +People who develop ARDS often are in the hospital for other serious health problems. Rarely, people who aren't hospitalized have health problems that lead to ARDS, such as severe pneumonia. + +If you have trouble breathing, call your doctor right away. If you have severe shortness of breath, call 911. + +Complications From ARDS + +If you have ARDS, you can develop other medical problems while in the hospital. The most common problems are: + +Infections. Being in the hospital and lying down for a long time can put you at risk for infections, such as pneumonia. Being on a ventilator also puts you at higher risk for infections. + +A pneumothorax (collapsed lung). This is a condition in which air or gas collects in the space around the lungs. This can cause one or both lungs to collapse. The air pressure from a ventilator can cause this condition. + +Lung scarring. ARDS causes the lungs to become stiff (scarred). It also makes it hard for the lungs to expand and fill with air. Being on a ventilator also can cause lung scarring. + +Blood clots. Lying down for long periods can cause blood clots to form in your body. A blood clot that forms in a vein deep in your body is called a deep vein thrombosis. This type of blood clot can break off, travel through the bloodstream to the lungs, and block blood flow. This condition is called pulmonary embolism.",NHLBI,ARDS +How to diagnose ARDS ?,"Your doctor will diagnose ARDS based on your medical history, a physical exam, and test results. + +Medical History + +Your doctor will ask whether you have or have recently had conditions that could lead to ARDS. For a list of these conditions, go to ""Who Is at Risk for ARDS?"" + +Your doctor also will ask whether you have heart problems, such as heart failure. Heart failure can cause fluid to build up in your lungs. + +Physical Exam + +ARDS may cause abnormal breathing sounds, such as crackling. Your doctor will listen to your lungs with a stethoscope to hear these sounds. + +He or she also will listen to your heart and look for signs of extra fluid in other parts of your body. Extra fluid may mean you have heart or kidney problems. + +Your doctor will look for a bluish color on your skin and lips. A bluish color means your blood has a low level of oxygen. This is a possible sign of ARDS. + +Diagnostic Tests + +You may have ARDS or another condition that causes similar symptoms. To find out, your doctor may recommend one or more of the following tests. + +Initial Tests + +The first tests done are: + +An arterial blood gas test. This blood test measures the oxygen level in your blood using a sample of blood taken from an artery. A low blood oxygen level might be a sign of ARDS. + +Chest x ray. This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether you have extra fluid in your lungs. + +Blood tests, such as a complete blood count, blood chemistries, and blood cultures. These tests help find the cause of ARDS, such as an infection. + +A sputum culture. This test is used to study the spit you've coughed up from your lungs. A sputum culture can help find the cause of an infection. + +Other Tests + +Other tests used to diagnose ARDS include: + +Chest computed tomography (to-MOG-rah-fee) scan, or chest CT scan. This test uses a computer to create detailed pictures of your lungs. A chest CT scan may show lung problems, such as fluid in the lungs, signs of pneumonia, or a tumor. + +Heart tests that look for signs of heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. This condition can cause fluid to build up in your lungs.",NHLBI,ARDS +What are the treatments for ARDS ?,"ARDS is treated in a hospital's intensive care unit. Current treatment approaches focus on improving blood oxygen levels and providing supportive care. Doctors also will try to pinpoint and treat the underlying cause of the condition. + +Oxygen Therapy + +One of the main goals of treating ARDS is to provide oxygen to your lungs and other organs (such as your brain and kidneys). Your organs need oxygen to work properly. + +Oxygen usually is given through nasal prongs or a mask that fits over your mouth and nose. However, if your oxygen level doesn't rise or it's still hard for you to breathe, your doctor will give you oxygen through a breathing tube. He or she will insert the flexible tube through your mouth or nose and into your windpipe. + +Before inserting the tube, your doctor will squirt or spray a liquid medicine into your throat (and possibly your nose) to make it numb. Your doctor also will give you medicine through an intravenous (IV) line in your bloodstream to make you sleepy and relaxed. + +The breathing tube will be connected to a machine that supports breathing (a ventilator). The ventilator will fill your lungs with oxygen-rich air. + +Your doctor will adjust the ventilator as needed to help your lungs get the right amount of oxygen. This also will help prevent injury to your lungs from the pressure of the ventilator. + +You'll use the breathing tube and ventilator until you can breathe on your own. If you need a ventilator for more than a few days, your doctor may do a tracheotomy (tra-ke-OT-o-me). + +This procedure involves making a small cut in your neck to create an opening to the windpipe. The opening is called a tracheostomy (TRA-ke-OS-to-me). Your doctor will place the breathing tube directly into the windpipe. The tube is then connected to the ventilator. + +For more information, go to the Health Topics Oxygen Therapy article. + +Supportive Care + +Supportive care refers to treatments that help relieve symptoms, prevent complications, or improve quality of life. Supportive approaches used to treat ARDS include: + +Medicines to help you relax, relieve discomfort, and treat pain. + +Ongoing monitoring of heart and lung function (including blood pressure and gas exchange). + +Nutritional support. People who have ARDS often suffer from malnutrition. Thus, extra nutrition may be given through a feeding tube. + +Treatment for infections. People who have ARDS are at higher risk for infections, such as pneumonia. Being on a ventilator also increases the risk of infections. Doctors use antibiotics to treat pneumonia and other infections. + +Prevention of blood clots. Lying down for long periods can cause blood clots to form in the deep veins of your body. These clots can travel to your lungs and block blood flow (a condition called pulmonary embolism). Blood-thinning medicines and other treatments, such as compression stocking (stockings that create gentle pressure up the leg), are used to prevent blood clots. + +Prevention of intestinal bleeding. People who receive long-term support from a ventilator are at increased risk of bleeding in the intestines. Medicines can reduce this risk. + +Fluids. You may be given fluids to improve blood flow through your body and to provide nutrition. Your doctor will make sure you get the right amount of fluids. Fluids usually are given through an IV line inserted into one of your blood vessels.",NHLBI,ARDS +What is (are) Narcolepsy ?,"Narcolepsy (NAR-ko-lep-se) is a disorder that causes periods of extreme daytime sleepiness. The disorder also may cause muscle weakness. + +Most people who have narcolepsy have trouble sleeping at night. Some people who have the disorder fall asleep suddenly, even if they're in the middle of talking, eating, or another activity. + +Narcolepsy also can cause: + +Cataplexy (KAT-ah-plek-se). This condition causes a sudden loss of muscle tone while you're awake. Muscle weakness can affect certain parts of your body or your whole body. For example, if cataplexy affects your hand, you may drop what you're holding. Strong emotions often trigger this weakness. It may last seconds or minutes. + +Hallucinations (ha-lu-sih-NA-shuns). These vivid dreams occur while falling asleep or waking up. + +Sleep paralysis (pah-RAL-ih-sis). This condition prevents you from moving or speaking while waking up and sometimes while falling asleep. Sleep paralysis usually goes away within a few minutes. + +Overview + +The two main phases of sleep are nonrapid eye movement (NREM) and rapid eye movement (REM). Most people are in the NREM phase when they first fall asleep. After about 90 minutes of sleep, most people go from NREM to REM sleep. + +Dreaming occurs during the REM phase of sleep. During REM, your muscles normally become limp. This prevents you from acting out your dreams. (For more information about sleep cycles, go to the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."") + +People who have narcolepsy often fall into REM sleep quickly and wake up directly from it. As a result, they may have vivid dreams while falling asleep and waking up. + +Hypocretin (hi-po-KREET-in), a chemical in the brain, helps promote wakefulness. Most people who have narcolepsy have low levels of this chemical. What causes these low levels isn't well understood. + +Researchers think that certain factors may work together to cause a lack of hypocretin. These factors may include heredity, infections, brain injuries, and autoimmune disorders. (Autoimmune disorders occur if the body's immune system mistakenly attacks the body's cells and tissues.) + +Outlook + +Narcolepsy symptoms usually begin during the teen or young adult years. People who have narcolepsy may find it hard to function at school, work, home, and in social situations because of extreme tiredness. + +Narcolepsy has no cure, but medicines, lifestyle changes, and other therapies can improve symptoms. Research is ongoing on the causes of narcolepsy and new ways to treat it.",NHLBI,Narcolepsy +What causes Narcolepsy ?,"Most people who have narcolepsy have low levels of hypocretin. This is a chemical in the brain that helps promote wakefulness. What causes low hypocretin levels isn't well understood. + +Researchers think that certain factors may work together to cause a lack of hypocretin. These factors may include: + +Heredity. Some people may inherit a gene that affects hypocretin. Up to 10 percent of people who have narcolepsy report having a relative who has the same symptoms. + +Infections. + +Brain injuries caused by conditions such as brain tumors, strokes, or trauma (for example, car accidents or military-related wounds). + +Autoimmune disorders. With these disorders, the body's immune system mistakenly attacks the body's cells and tissues. An example of an autoimmune disorder is rheumatoid arthritis. + +Low levels of histamine, a substance in the blood that promotes wakefulness. + +Some research suggests that environmental toxins may play a role in triggering narcolepsy. Toxins may include heavy metals, pesticides and weed killers, and secondhand smoke. + +Heredity alone doesn't cause narcolepsy. You also must have at least one other factor, such as one of those listed above, to develop narcolepsy.",NHLBI,Narcolepsy +Who is at risk for Narcolepsy? ?,"Narcolepsy affects men and women. Symptoms usually begin during the teen or young adult years. The disorder also can develop later in life or in children, but it's rare before age 5. + +Researchers think that certain factors may work together to cause narcolepsy. If these factors affect you, you may be at higher risk for the disorder. (For more information, go to ""What Causes Narcolepsy?"")",NHLBI,Narcolepsy +What are the symptoms of Narcolepsy ?,"The four major signs and symptoms of narcolepsy are extreme daytime sleepiness, cataplexy (muscle weakness) while awake, and hallucinations and sleep paralysis during sleep. + +If you have narcolepsy, you may have one or more of these symptoms. They can range from mild to severe. Less than one-third of people who have narcolepsy have all four symptoms. + +Extreme Daytime Sleepiness + +All people who have narcolepsy have extreme daytime sleepiness. This often is the most obvious symptom of the disorder. + +During the day, you may have few or many periods of sleepiness. Each period usually lasts 30minutes or less. Strong emotionssuch as anger, fear, laughter, or excitementcan trigger this sleepiness. + +People who have daytime sleepiness often complain of: + +Mental cloudiness or ""fog"" + +Memory problems or problems focusing + +Lack of energy or extreme exhaustion + +Depression + +Some people who have narcolepsy have episodes in which they fall asleep suddenly. This is more likely to happen when they're not activefor example, while reading, watching TV, or sitting in a meeting. + +However, sleep episodes also may occur in the middle of talking, eating, or another activity. Cataplexy also may occur at the same time. + +Cataplexy + +This condition causes loss of muscle tone while you're awake. Muscle weakness affects part or all of your body. + +Cataplexy may make your head nod or make it hard for you to speak. Muscle weakness also may make your knees weak or cause you to drop things you're holding. Some people lose all muscle control and fall. + +Strong emotionssuch as anger, surprise, fear, or laughteroften trigger cataplexy. It usually lasts a few seconds or minutes. During this time, you're usually awake. + +Cataplexy may occur weeks to years after you first start to have extreme daytime sleepiness. + +Hallucinations + +If you have narcolepsy, you may have vivid dreams while falling asleep, waking up, or dozing. These dreams can feel very real. You may feel like you can see, hear, smell, and taste things. + +Sleep Paralysis + +This condition prevents you from moving or speaking while falling asleep or waking up. However, you're fully conscious (aware) during this time. Sleep paralysis usually lasts just a few seconds or minutes, but it can be scary. + +Other Symptoms + +Most people who have narcolepsy don't sleep well at night. They may have trouble falling and staying asleep. Vivid, scary dreams may disturb sleep. Not sleeping well at night worsens daytime sleepiness. + +Rarely, people who fall asleep in the middle of an activity, such as eating, may continue that activity for a few seconds or minutes. This is called automatic behavior. + +During automatic behavior, you're not aware of your actions, so you don't do them well. For example, if you're writing before falling asleep, you may scribble rather than form words. If you're driving, you may get lost or have an accident. Most people who have this symptom don't remember what happened while it was going on. + +Children who have narcolepsy often have trouble studying, focusing, and remembering things. Also, they may seem hyperactive. Some children who have narcolepsy speed up their activities rather than slow them down. + +Children who have narcolepsy may have severe sleepiness. They may fall asleep while talking or eating, or during sporting events and social activities.",NHLBI,Narcolepsy +How to diagnose Narcolepsy ?,"It can take as long as 10 to 15 years after the first symptoms appear before narcolepsy is recognized and diagnosed. This is because narcolepsy is fairly rare. Also, many narcolepsy symptoms are like symptoms of other illnesses, such as infections, depression, and sleep disorders. + +Narcolepsy sometimes is mistaken for learning problems, seizure disorders, or laziness, especially in school-aged children and teens. When narcolepsy symptoms are mild, the disorder is even harder to diagnose. + +Your doctor will diagnose narcolepsy based on your signs and symptoms, your medical and family histories, a physical exam, and test results. + +Signs and Symptoms + +Tell your doctor about any signs and symptoms of narcolepsy that you have. This is important because your doctor may not ask about them during a routine checkup. + +Your doctor will want to know when you first had signs and symptoms and whether they bother your sleep or daily routine. He or she also will want to know about your sleep habits and how you feel and act during the day. + +To help answer these questions, you may want to keep a sleep diary for a few weeks. Keep a daily record of how easy it is to fall and stay asleep, how much sleep you get at night, and how alert you feel during the day. + +For a sample sleep diary, go to the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."" + +Medical and Family Histories + +Your doctor may ask whether: + +You're affected by certain factors that can lead to narcolepsy. Examples of these factors include infections, brain injuries, and autoimmune disorders. Some research suggests that environmental toxins may play a role in triggering narcolepsy. + +You take medicines and which ones you take. Some medicines can cause daytime sleepiness. Thus, your symptoms may be due to medicine, not narcolepsy. + +You have symptoms of other sleep disorders that cause daytime sleepiness. + +You have relatives who have narcolepsy or who have signs or symptoms of the disorder. + +Physical Exam + +Your doctor will check you to see whether another condition is causing your symptoms. For example, infections, certain thyroid diseases, drug and alcohol use, and other medical or sleep disorders may cause symptoms similar to those of narcolepsy. + +Diagnostic Tests + +Sleep Studies + +If your doctor thinks you have narcolepsy, he or she will likely suggest that you see a sleep specialist. This specialist may advise you to have sleep studies to find out more about your condition. + +Sleep studies usually are done at a sleep center. Doctors use the results from two tests to diagnose narcolepsy. These tests are a polysomnogram (PSG) and a multiple sleep latency test (MSLT). + +Polysomnogram. You usually stay overnight at a sleep center for a PSG. The test records brain activity, eye movements, heart rate, and blood pressure. A PSG can help find out whether you: + +Fall asleep quickly + +Go into rapid eye movement (REM) sleep soon after falling asleep + +Wake up often during the night + +Multiple sleep latency test. This daytime sleep study measures how sleepy you are. It's often done the day after a PSG. During the test, you're asked to nap for 20minutes every 2 hours throughout the day. (You will nap a total of four or five times.) + +A technician checks your brain activity during this time. He or she notes how quickly you fall asleep and how long it takes you to reach various stages of sleep. + +An MSLT finds out how quickly you fall asleep during the day (after a full night's sleep). It also shows whether you go into REM sleep soon after falling asleep. + +Other Tests + +Hypocretin test. This test measures the level of hypocretin in the fluid that surrounds your spinal cord. Most people who have narcolepsy have low levels of hypocretin. Hypocretin is a chemical that helps promote wakefulness. + +To get a sample of spinal cord fluid, a spinal tap (also called a lumbar puncture) is done. For this procedure, your doctor inserts a needle into your lower back area and then withdraws a sample of your spinal fluid.",NHLBI,Narcolepsy +What are the treatments for Narcolepsy ?,"Narcolepsy has no cure. However, medicines, lifestyle changes, and other therapies can relieve many of its symptoms. Treatment for narcolepsy is based on the type of symptoms you have and how severe they are. + +Not all medicines and lifestyle changes work for everyone. It may take weeks to months for you and your doctor to find the best treatment. + +Medicines + +You may need one or more medicines to treat narcolepsy symptoms. These may include: + +Stimulants to ease daytime sleepiness and raise your alertness. + +A medicine that helps make up for the low levels of hypocretin in your brain. (Hypocretin is a chemical that helps promote wakefulness.) This medicine helps you stay awake during the day and sleep at night. It doesn't always completely relieve daytime sleepiness, so your doctor may tell you to take it with a stimulant. + +Medicines that help you sleep at night. + +Medicines used to treat depression. These medicines also help prevent cataplexy, hallucinations, and sleep paralysis. + +Some prescription and over-the-counter medicines can interfere with your sleep. Ask your doctor about these medicines and how to avoid them, if possible. For example, your doctor may advise you to avoid antihistamines. These medicines suppress the action of histamine, a substance in the blood that promotes wakefulness. + +If you take regular naps when you feel sleepy, you may need less medicine to stay awake. + +Lifestyle Changes + +Lifestyle changes also may help relieve some narcolepsy symptoms. You can take steps to make it easier to fall asleep at night and stay asleep. + +Follow a regular sleep schedule. Go to bed and wake up at the same time every day. + +Do something relaxing before bedtime, such as taking a warm bath. + +Keep your bedroom or sleep area quiet, comfortable, dark, and free from distractions, such as a TV or computer. + +Allow yourself about 20 minutes to fall asleep or fall back asleep after waking up. After that, get up and do something relaxing (like reading) until you get sleepy. + +Certain activities, foods, and drinks before bedtime can keep you awake. Try to follow these guidelines: + +Exercise regularly, but not within 3 hours of bedtime. + +Avoid tobacco, alcohol, chocolate, and drinks that contain caffeine for several hours before bedtime. + +Avoid large meals and beverages just before bedtime. + +Avoid bright lights before bedtime. + +For more tips on sleeping better, go to the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."" + +Other Therapies + +Light therapy may help you keep a regular sleep and wake schedule. For this type of therapy, you sit in front of a light box, which has special lights, for 10 to 30 minutes. This therapy can help you feel less sleepy in the morning.",NHLBI,Narcolepsy +What is (are) Bronchitis ?,"Espaol + +Bronchitis (bron-KI-tis) is a condition in which the bronchial tubes become inflamed. These tubes carry air to your lungs. (For more information about the bronchial tubes and airways, go to the Diseases and Conditions Index How the Lungs Work article.) + +People who have bronchitis often have a cough that brings up mucus. Mucus is a slimy substance made by the lining of the bronchial tubes. Bronchitis also may cause wheezing (a whistling or squeaky sound when you breathe), chest pain or discomfort, a low fever, and shortness of breath. + +Bronchitis + + + +Overview + +The two main types of bronchitis are acute (short term) and chronic (ongoing). + +Acute Bronchitis + +Infections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. These viruses are spread through the air when people cough. They also are spread through physical contact (for example, on hands that have not been washed). + +Sometimes bacteria cause acute bronchitis. + +Acute bronchitis lasts from a few days to 10 days. However, coughing may last for several weeks after the infection is gone. + +Several factors increase your risk for acute bronchitis. Examples include exposure to tobacco smoke (including secondhand smoke), dust, fumes, vapors, and air pollution. Avoiding these lung irritants as much as possible can help lower your risk for acute bronchitis. + +Most cases of acute bronchitis go away within a few days. If you think you have acute bronchitis, see your doctor. He or she will want to rule out other, more serious health conditions that require medical care. + +Chronic Bronchitis + +Chronic bronchitis is an ongoing, serious condition. It occurs if the lining of the bronchial tubes is constantly irritated and inflamed, causing a long-term cough with mucus. Smoking is the main cause of chronic bronchitis. + +Viruses or bacteria can easily infect the irritated bronchial tubes. If this happens, the condition worsens and lasts longer. As a result, people who have chronic bronchitis have periods when symptoms get much worse than usual. + +Chronic bronchitis is a serious, long-term medical condition. Early diagnosis and treatment, combined with quitting smoking and avoiding secondhand smoke, can improve quality of life. The chance of complete recovery is low for people who have severe chronic bronchitis.",NHLBI,Bronchitis +What causes Bronchitis ?,"Acute Bronchitis + +Infections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. Sometimes bacteria can cause the condition. + +Certain substances can irritate your lungs and airways and raise your risk for acute bronchitis. For example, inhaling or being exposed to tobacco smoke, dust, fumes, vapors, or air pollution raises your risk for the condition. These lung irritants also can make symptoms worse. + +Being exposed to a high level of dust or fumes, such as from an explosion or a big fire, also may lead to acute bronchitis. + +Chronic Bronchitis + +Repeatedly breathing in fumes that irritate and damage lung and airway tissues causes chronic bronchitis. Smoking is the major cause of the condition. + +Breathing in air pollution and dust or fumes from the environment or workplace also can lead to chronic bronchitis. + +People who have chronic bronchitis go through periods when symptoms become much worse than usual. During these times, they also may have acute viral or bacterial bronchitis.",NHLBI,Bronchitis +Who is at risk for Bronchitis? ?,"Bronchitis is a very common condition. Millions of cases occur every year. + +Elderly people, infants, and young children are at higher risk for acute bronchitis than people in other age groups. + +People of all ages can develop chronic bronchitis, but it occurs more often in people who are older than 45. Also, many adults who develop chronic bronchitis are smokers. Women are more than twice as likely as men to be diagnosed with chronic bronchitis. + +Smoking and having an existing lung disease greatly increase your risk for bronchitis. Contact with dust, chemical fumes, and vapors from certain jobs also increases your risk for the condition. Examples include jobs in coal mining, textile manufacturing, grain handling, and livestock farming. + +Air pollution, infections, and allergies can worsen the symptoms of chronic bronchitis, especially if you smoke.",NHLBI,Bronchitis +What are the symptoms of Bronchitis ?,"Acute Bronchitis + +Acute bronchitis caused by an infection usually develops after you already have a cold or the flu. Symptoms of a cold or the flu include sore throat, fatigue (tiredness), fever, body aches, stuffy or runny nose, vomiting, and diarrhea. + +The main symptom of acute bronchitis is a persistent cough, which may last 10 to 20 days. The cough may produce clear mucus (a slimy substance). If the mucus is yellow or green, you may have a bacterial infection as well. Even after the infection clears up, you may still have a dry cough for days or weeks. + +Other symptoms of acute bronchitis include wheezing (a whistling or squeaky sound when you breathe), low fever, and chest tightness or pain. + +If your acute bronchitis is severe, you also may have shortness of breath, especially with physical activity. + +Chronic Bronchitis + +The signs and symptoms of chronic bronchitis include coughing, wheezing, and chest discomfort. The coughing may produce large amounts of mucus. This type of cough often is called a smoker's cough.",NHLBI,Bronchitis +How to diagnose Bronchitis ?,"Your doctor usually will diagnose bronchitis based on your signs and symptoms. He or she may ask questions about your cough, such as how long you've had it, what you're coughing up, and how much you cough. + +Your doctor also will likely ask: + +About your medical history + +Whether you've recently had a cold or the flu + +Whether you smoke or spend time around others who smoke + +Whether you've been exposed to dust, fumes, vapors, or air pollution + +Your doctor will use a stethoscope to listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds in your lungs. He or she also may: + +Look at your mucus to see whether you have a bacterial infection + +Test the oxygen levels in your blood using a sensor attached to your fingertip or toe + +Recommend a chest x ray, lung function tests, or blood tests",NHLBI,Bronchitis +What are the treatments for Bronchitis ?,"The main goals of treating acute and chronic bronchitis are to relieve symptoms and make breathing easier. + +If you have acute bronchitis, your doctor may recommend rest, plenty of fluids, and aspirin (for adults) or acetaminophen to treat fever. + +Antibiotics usually aren't prescribed for acute bronchitis. This is because they don't work against virusesthe most common cause of acute bronchitis. However, if your doctor thinks you have a bacterial infection, he or she may prescribe antibiotics. + +A humidifier or steam can help loosen mucus and relieve wheezing and limited air flow. If your bronchitis causes wheezing, you may need an inhaled medicine to open your airways. You take this medicine using an inhaler. This device allows the medicine to go straight to your lungs. + +Your doctor also may prescribe medicines to relieve or reduce your cough and treat your inflamed airways (especially if your cough persists). + +If you have chronic bronchitis and also have been diagnosed with COPD (chronic obstructive pulmonary disease), you may need medicines to open your airways and help clear away mucus. These medicines include bronchodilators (inhaled) and steroids (inhaled or pill form). + +If you have chronic bronchitis, your doctor may prescribe oxygen therapy. This treatment can help you breathe easier, and it provides your body with needed oxygen. + +One of the best ways to treat acute and chronic bronchitis is to remove the source of irritation and damage to your lungs. If you smoke, it's very important to quit. + +Talk with your doctor about programs and products that can help you quit smoking. Try to avoid secondhand smoke and other lung irritants, such as dust, fumes, vapors, and air pollution. + +For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart."" Although these resources focus on heart health, they include general information about how to quit smoking.",NHLBI,Bronchitis +How to prevent Bronchitis ?,"You can't always prevent acute or chronic bronchitis. However, you can take steps to lower your risk for both conditions. The most important step is to quit smoking or not start smoking. + +For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart."" Although these resources focus on heart health, they include general information about how to quit smoking. + +Also, try to avoid other lung irritants, such as secondhand smoke, dust, fumes, vapors, and air pollution. For example, wear a mask over your mouth and nose when you use paint, paint remover, varnish, or other substances with strong fumes. This will help protect your lungs. + +Wash your hands often to limit your exposure to germs and bacteria. Your doctor also may advise you to get a yearly flu shot and a pneumonia vaccine.",NHLBI,Bronchitis +What is (are) Broken Heart Syndrome ?,"Broken heart syndrome is a condition in which extreme stress can lead to heart muscle failure. The failure is severe, but often short-term. + +Most people who experience broken heart syndrome think they may be having a heart attack, a more common medical emergency caused by a blocked coronary (heart) artery. The two conditions have similar symptoms, including chest pain and shortness of breath. However, theres no evidence of blocked coronary arteries in broken heart syndrome, and most people have a full and quick recovery. + +Overview + +Broken heart syndrome is a recently recognized heart problem. It was originally reported in the Asian population in 1990 and named takotsubo cardiomyopathy (KAR-de-o-mi-OP-ah-thee). In this condition, the heart is so weak that it assumes a bulging shape (tako tsubo is the term for an octopus trap, whose shape resembles the bulging appearance of the heart during this condition). Cases have since been reported worldwide, and the first reports of broken heart syndrome in the United States appeared in 1998. The condition also is commonly called stress-induced cardiomyopathy. + +The cause of broken heart syndrome is not fully known. In most cases, symptoms are triggered by extreme emotional or physical stress, such as intense grief, anger, or surprise. Researchers think that the stress releases hormones that stun the heart and affect its ability to pump blood to the body. (The term stunned is often used to indicate that the injury to the heart muscle is only temporary.) + +People who have broken heart syndrome often have sudden intense chest pain and shortness of breath. These symptoms begin just a few minutes to hours after exposure to the unexpected stress. Many seek emergency care, concerned they are having a heart attack. Often, patients who have broken heart syndrome have previously been healthy. + +Women are more likely than men to have broken heart syndrome. Researchers are just starting to explore what causes this disorder and how to diagnose and treat it. + +Broken Heart Syndrome Versus Heart Attack + +Symptoms of broken heart syndrome can look like those of a heart attack. + +Most heart attacks are caused by blockages and blood clots forming in the coronary arteries, which supply the heart with blood. If these clots cut off the blood supply to the heart for a long enough period of time, heart muscle cells can die, leaving the heart with permanent damage. Heart attacks most often occur as a result of coronary heart disease (CHD), also called coronary artery disease. + +Broken heart syndrome is quite different. Most people who experience broken heart syndrome have fairly normal coronary arteries, without severe blockages or clots. The heart cells are stunned by stress hormones but not killed. The stunning effects reverse quickly, often within just a few days or weeks. In most cases, there is no lasting damage to the heart. + +Because symptoms are similar to a heart attack, it is important to seek help right away. You, and sometimes emergency care providers, may not be able to tell that you have broken heart syndrome until you have some tests. + +All chest pain should be checked by a doctor. If you think you or someone else may be having heart attack symptoms or a heart attack, don't ignore it or feel embarrassed to call for help. Call 911 for emergency medical care. In the case of a heart attack, acting fast at the first sign of symptoms can save your life and limit damage to your heart. + +Outlook + +Research is ongoing to learn more about broken heart syndrome and its causes. + +The symptoms of broken heart syndrome are treatable, and most people who experience it have a full recovery, usually within days or weeks. The heart muscle is not permanently damaged, and the risk of broken heart syndrome happening again is low.",NHLBI,Broken Heart Syndrome +What causes Broken Heart Syndrome ?,"The cause of broken heart syndrome isnt fully known. However, extreme emotional or physical stress is believed to play a role in causing the temporary disorder. + +Although symptoms are similar to those of a heart attack, what is happening to the heart is quite different. Most heart attacks are caused by near or complete blockage of a coronary artery. In broken heart syndrome, the coronary arteries are not blocked, although blood flow may be reduced. + +Potential Triggers + +In most cases, broken heart syndrome occurs after an intense and upsetting emotional or physical event. Some potential triggers of broken heart syndrome are: + +Emotional stressorsextreme grief, fear, or anger, for example as a result of the unexpected death of a loved one, financial or legal trouble, intense fear, domestic abuse, confrontational argument, car accident, public speaking, or even a surprise party. + +Physical stressorsan asthma attack, serious illness or surgery, or exhausting physical effort. + +Potential Causes + +Researchers think that sudden stress releases hormones that overwhelm or stun the heart. (The term stunned is often used to indicate that the injury to the heart muscle is only temporary.) This can trigger changes in heart muscle cells or coronary blood vessels, or both. The heart becomes so weak that its left ventricle (which is the chamber that pumps blood from your heart to your body) bulges and cannot pump well, while the other parts of the heart work normally or with even more forceful contractions. As a result the heart is unable to pump properly. (For more information about the hearts pumping action and blood flow, go to the Health Topics How the Heart Works article.) + +Researchers are trying to identify the precise way in which the stress hormones affect the heart. Broken heart syndrome may result from a hormone surge, coronary artery spasm, or microvascular dysfunction. + +Hormone Surge + +Intense stress causes large amounts of the fight or flight hormones, such as adrenaline and noradrenaline, to be released into your bloodstream. The hormones are meant to help you cope with the stress. Researchers think that the sudden surge of hormones overwhelms and stuns the heart muscle, producing symptoms similar to those of a heart attack. + +Coronary Artery Spasm + +Some research suggests that the extreme stress causes a temporary, sudden narrowing of one of the coronary arteries as a result of a spasm. The spasm slows or stops blood flow through the artery and starves part of the heart of oxygen-rich blood. + +Microvascular Dysfunction + +Another theory that is gaining traction is that the very small coronary arteries (called microvascular arteries) do not function well due to low hormone levels occurring before or after menopause. The microvascular arteries fail to provide enough oxygen-rich blood to the heart muscle.",NHLBI,Broken Heart Syndrome +Who is at risk for Broken Heart Syndrome? ?,"Broken heart syndrome affects women more often than men. Often, people who experience broken heart syndrome have previously been healthy. Research shows that the traditional risk factors for heart disease may not apply to broken heart syndrome. + +People who might be at increased risk for broken heart syndrome include: + +Women who have gone through menopause, particularly women in their sixties and seventies + +People who often have no previous history of heart disease + +Asian and White populations + +Although these are the characteristics for most cases of broken heart syndrome, the condition can occur in anyone. + +Research is ongoing to learn more about broken heart syndrome and its causes.",NHLBI,Broken Heart Syndrome +What are the symptoms of Broken Heart Syndrome ?,"All chest pain should be checked by a doctor. Because symptoms of broken heart syndrome are similar to those of a heart attack, it is important to seek help right away. Your doctor may not be able to diagnose broken heart syndrome until you have some tests. + +Common Signs and Symptoms + +The most common symptoms of broken heart syndrome are sudden, sharp chest pain and shortness of breath. Typically these symptoms begin just minutes to hours after experiencing a severe, and usually unexpected, stress. + +Because the syndrome involves severe heart muscle weakness, some people also may experience signs and symptoms such as fainting, arrhythmias (ah-RITH-me-ahs) (fast or irregular heartbeats), cardiogenic (KAR-de-o-JEN-ik) shock (when the heart cant pump enough blood to meet the bodys needs), low blood pressure, and heart failure. + +Differences From a Heart Attack + +Some of the signs and symptoms of broken heart syndrome differ from those of a heart attack. For example, in people who have broken heart syndrome: + +Symptoms (chest pain and shortness of breath) occur suddenly after having extreme emotional or physical stress. + +EKG(electrocardiogram) results dont look the same as the results for a person having a heart attack. (An EKG is a test that records the hearts electrical activity.) + +Blood tests show no signs or mild signs of heart damage. + +Tests show enlarged and unusual movement of the lower left heart chamber (the left ventricle).\ + +Tests show no signs of blockages in the coronary arteries. + +Recovery time is quick, usually within days or weeks (compared with the recovery time of a month or more for a heart attack). + +Complications + +Broken heart syndrome can be life threatening in some cases. It can lead to serious heart problems such as: + +Heart failure, a condition in which the heart cant pump enough blood to meet the bodys needs + +Heart rhythm problems that cause the heart to beat much faster or slower than normal + +Heart valve problems + +The good news is that most people who have broken heart syndrome make a full recovery within weeks. With medical care, even the most critically ill tend to make a quick and complete recovery.",NHLBI,Broken Heart Syndrome +How to diagnose Broken Heart Syndrome ?,"Because the symptoms are similar, at first your doctor may not be able to tell whether you are experiencing broken heart syndrome or having a heart attack. Therefore, the doctors immediate goals will be: + +To determine whats causing your symptoms + +To determine whether youre having or about to have a heart attack + +Your doctor will diagnose broken heart syndrome based on your signs and symptoms, your medical and family histories, and the results from tests and procedures. + +Specialists Involved + +Your doctor may refer you to a cardiologist. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions. + +Physical Exam and Medical History + +Your doctor will do a physical exam and ask you to describe your symptoms. He or she may ask questions such as when your symptoms began, where you are feeling pain or discomfort and what it feels like, and whether the pain is constant or varies. + +To learn about your medical history, your doctor may ask about your overall health, risk factors for coronary heart disease (CHD) and other heart disease, and family history. Your doctor will ask whether you've recently experienced any major stresses. + +Diagnostic Tests and Procedures + +No single test can diagnose broken heart syndrome. The tests and procedures for broken heart syndrome are similar to those used to diagnose CHD or heart attack. The diagnosis is made based on the results of the following standards tests to rule out heart attack and imaging studies to help establish broken heart syndrome. + +Standard Tests and Procedures + + + +EKG (Electrocardiogram) + + + +AnEKGis a simple, painless test that detects and records the hearts electrical activity. The test shows how fast your heart is beating and whether its rhythm is steady or irregular. An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +The EKG may show abnormalities in your heartbeat, a sign of broken heart syndrome as well as heart damage due to CHD. + + + +Blood Tests + +Blood tests check the levels of certain substances in your blood, such as fats, cholesterol, sugar, and proteins. Blood tests help greatly in diagnosing broken heart syndrome, because certain enzymes (proteins in the blood) may be present in the blood to indicate the condition. + +Imaging Procedures + + + +Echocardiography + +Echocardiography(echo) uses sound waves to create a moving picture of your heart. The test provides information about the size and shape of your heart and how well your heart chambers and valves are working. Echo also can show areas of heart muscle that aren't contracting well because of poor blood flow or previous injury. + +The echo may show slowed blood flow in the left chamber of the heart. + + + +Chest X Ray + +A chest x rayis a painless test that creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. Your doctor will need a chest x ray to analyze whether your heart has the enlarged shape that is a sign of broken heart syndrome. + +A chest x ray can reveal signs of heart failure, as well as lung disorders and other causes of symptoms not related to broken heart syndrome. + + + +Cardiac MRI + +Cardiac magnetic resonance imaging (MRI) is a common test that uses radio waves, magnets, and a computer to make both still and moving pictures of your heart and major blood vessels. Doctors use cardiac MRI to get pictures of the beating heart and to look at its structure and function. These pictures can help them decide the best way to treat people who have heart problems. + + + +Coronary Angiography and Cardiac Catheterization + +Your doctor may recommend coronary angiography (an-jee-OG-rah-fee) if other tests or factors suggest you have CHD. This test uses dye and special x rays to look inside your coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-eh-ter-ih-ZA-shun). A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. + + + +Ventriculogram + +Ventriculogram is another test that can be done during a cardiac catheterization that examines the left ventricle, which is the hearts main pumping chamber. During this test, a dye is injected into the inside of the heart and x ray pictures are taken. The test can show the ventricles size and how well it pumps blood. It also shows how well the blood flows through the aortic and mitral values.",NHLBI,Broken Heart Syndrome +What are the treatments for Broken Heart Syndrome ?,"Even though broken heart syndrome may feel like a heart attack, its a very different problem that needs a different type of treatment. + +The good news is that broken heart syndrome is usually treatable, and most people make a full recovery. Most people who experience broken heart syndrome stay in the hospital for a few days to a week. + +Initial treatment is aimed at improving blood flow to the heart, and may be similar to that for a heart attack until the diagnosis is clear. Further treatment can include medicines and lifestyle changes. + +Medicines + +Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Medicines are often discontinued once heart function has returned to normal. + +Your doctor may prescribe the following medicines: + +ACE inhibitors (or angiotensin-converting enzyme inhibitors), to lower blood pressure and reduce strain on your heart + +Beta blockers, to slow your heart rate and lower your blood pressure to decrease your hearts workload + +Diuretics (water or fluid pills), to help reduce fluid buildup in your lungs and swelling in your feet and ankles + +Anti-anxiety medicines, to help manage stress hormones + +Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options. + +Treatment of Complications + +Broken heart syndrome can be life threatening in some cases. Because the syndrome involves severe heart muscle weakness, patients can experience shock, heart failure, low blood pressure, and potentially life-threatening heart rhythm abnormalities. + +The good news is that this condition improves very quickly, so with proper diagnosis and management, even the most critically ill tend to make a quick and complete recovery. + +Lifestyle Changes + +To stay healthy, its important to find ways to reduce stress and cope with particularly upsetting situations. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. + +Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program. + +Treatments Not Helpful for Broken Heart Syndrome + +Several procedures used to treat a heart attack are not helpful in treating broken heart syndrome. These procedurespercutaneous coronary intervention (sometimes referred to as angioplasty), stent placement, and surgerytreat blocked arteries, which is not the cause of broken heart syndrome.",NHLBI,Broken Heart Syndrome +How to prevent Broken Heart Syndrome ?,"Researchers are still learning about broken heart syndrome, and no treatments have been shown to prevent it. For people who have experienced the condition, the risk of recurrence is low. + +An emotionally upsetting or serious physical event can trigger broken heart syndrome. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. + +Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program. + +Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. Learning to manage stress includes adopting healthy habits that will keep your stress levels low and make it easier to deal with stress when it does happen. A healthy lifestyle includes following a healthy diet, being physically active, maintaining a healthy weight, and quitting smoking.",NHLBI,Broken Heart Syndrome +What is (are) Bronchiectasis ?,"Bronchiectasis (brong-ke-EK-ta-sis) is a condition in which damage to the airways causes them to widen and become flabby and scarred. The airways are tubes that carry air in and out of your lungs. + +Bronchiectasis usually is the result of an infection or other condition that injures the walls of your airways or prevents the airways from clearing mucus. Mucus is a slimy substance that the airways produce to help remove inhaled dust, bacteria, and other small particles. + +In bronchiectasis, your airways slowly lose their ability to clear out mucus. When mucus can't be cleared, it builds up and creates an environment in which bacteria can grow. This leads to repeated, serious lung infections. + +Each infection causes more damage to your airways. Over time, the airways lose their ability to move air in and out. This can prevent enough oxygen from reaching your vital organs. + +Bronchiectasis can lead to serious health problems, such as respiratory failure, atelectasis (at-eh-LEK-tah-sis), and heart failure. + +Bronchiectasis + + + +Overview + +Bronchiectasis can affect just one section of one of your lungs or many sections of both lungs. + +The initial lung damage that leads to bronchiectasis often begins in childhood. However, symptoms may not occur until months or even years after you start having repeated lung infections. + +In the United States, common childhood infectionssuch as whooping cough and measlesused to cause many cases of bronchiectasis. However, these causes are now less common because of vaccines and antibiotics. + +Now bronchiectasis usually is due to a medical condition that injures the airway walls or prevents the airways from clearing mucus. Examples of such conditions include cystic fibrosis and primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD. + +Bronchiectasis that affects only one part of the lung may be caused by a blockage rather than a medical condition. + +Bronchiectasis can be congenital (kon-JEN-ih-tal) or acquired. Congenital bronchiectasis affects infants and children. It's the result of a problem with how the lungs form in a fetus. + +Acquired bronchiectasis occurs as a result of another condition or factor. This type of bronchiectasis can affect adults and older children. Acquired bronchiectasis is more common than the congenital type. + +Outlook + +Currently, bronchiectasis has no cure. However, with proper care, most people who have it can enjoy a good quality of life. + +Early diagnosis and treatment of bronchiectasis are important. The sooner your doctor starts treating bronchiectasis and any underlying conditions, the better your chances of preventing further lung damage.",NHLBI,Bronchiectasis +What causes Bronchiectasis ?,"Damage to the walls of the airways usually is the cause of bronchiectasis. A lung infection may cause this damage. Examples of lung infections that can lead to bronchiectasis include: + +Severe pneumonia (nu-MO-ne-ah) + +Whooping cough or measles (uncommon in the United States due to vaccination) + +Tuberculosis + +Fungal infections + +Conditions that damage the airways and raise the risk of lung infections also can lead to bronchiectasis. Examples of such conditions include: + +Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States. + +Immunodeficiency disorders, such as common variable immunodeficiency and, less often, HIV and AIDS. + +Allergic bronchopulmonary aspergillosis (AS-per-ji-LO-sis). This is an allergic reaction to a fungus called aspergillus. The reaction causes swelling in the airways. + +Disorders that affect cilia (SIL-e-ah) function, such as primary ciliary dyskinesia. Cilia are small, hair-like structures that line your airways. They help clear mucus (a slimy substance) out of your airways. + +Chronic (ongoing) pulmonary aspiration (as-pih-RA-shun). This is a condition in which you inhale food, liquids, saliva, or vomited stomach contents into your lungs. Aspiration can inflame the airways, which can lead to bronchiectasis. + +Connective tissue diseases, such as rheumatoid arthritis, Sjgrens syndrome, and Crohns disease. + +Other conditions, such as an airway blockage, also can lead to bronchiectasis. Many things can cause a blockage, such as a growth or a noncancerous tumor. An inhaled object, such as a piece of a toy or a peanut that you inhaled as a child, also can cause an airway blockage. + +A problem with how the lungs form in a fetus may cause congenital bronchiectasis. This condition affects infants and children.",NHLBI,Bronchiectasis +Who is at risk for Bronchiectasis? ?,"People who have conditions that damage the lungs or increase the risk of lung infections are at risk for bronchiectasis. Such conditions include: + +Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States. + +Immunodeficiency disorders, such as common variable immunodeficiency and, less often, HIV and AIDS. + +Allergic bronchopulmonary aspergillosis. This is an allergic reaction to a fungus called aspergillus. The reaction causes swelling in the airways. + +Disorders that affect cilia function, such as primary ciliary dyskinesia. Cilia are small, hair-like structures that line your airways. They help clear mucus (a slimy substance) out of your airways. + +Bronchiectasis can develop at any age. Overall, two-thirds of people who have the condition are women. However, in children, the condition is more common in boys than in girls.",NHLBI,Bronchiectasis +What are the symptoms of Bronchiectasis ?,"The initial airway damage that leads to bronchiectasis often begins in childhood. However, signs and symptoms may not appear until months or even years after you start having repeated lung infections. + +The most common signs and symptoms of bronchiectasis are: + +A daily cough that occurs over months or years + +Daily production of large amounts of sputum (spit). Sputum, which you cough up and spit out, may contain mucus (a slimy substance), trapped particles, and pus. + +Shortness of breath and wheezing (a whistling sound when you breathe) + +Chest pain + +Clubbing (the flesh under your fingernails and toenails gets thicker) + +If your doctor listens to your lungs with a stethoscope, he or she may hear abnormal lung sounds. + +Over time, you may have more serious symptoms. You may cough up blood or bloody mucus and feel very tired. Children may lose weight or not grow at a normal rate. + +Complications of Bronchiectasis + +Severe bronchiectasis can lead to other serious health conditions, such as respiratory failure and atelectasis. + +Respiratory failure is a condition in which not enough oxygen passes from your lungs into your blood. The condition also can occur if your lungs can't properly remove carbon dioxide (a waste gas) from your blood. + +Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). In severe cases, signs and symptoms may include a bluish color on your skin, lips, and fingernails; confusion; and sleepiness. + +Atelectasis is a condition in which one or more areas of your lungs collapse or don't inflate properly. As a result, you may feel short of breath. Your heart rate and breathing rate may increase, and your skin and lips may turn blue. + +If bronchiectasis is so advanced that it affects all parts of your airways, it may cause heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. + +The most common signs and symptoms of heart failure are shortness of breath or trouble breathing, tiredness, and swelling in the ankles, feet, legs, abdomen, and veins in the neck.",NHLBI,Bronchiectasis +How to diagnose Bronchiectasis ?,"Your doctor may suspect bronchiectasis if you have a daily cough that produces large amounts of sputum (spit). + +To find out whether you have bronchiectasis, your doctor may recommend tests to: + +Identify any underlying causes that require treatment + +Rule out other causes of your symptoms + +Find out how much your airways are damaged + +Diagnostic Tests and Procedures + +Chest CT Scan + +A chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, is the most common test for diagnosing bronchiectasis. + +This painless test creates precise pictures of your airways and other structures in your chest. A chest CT scan can show the extent and location of lung damage. This test gives more detailed pictures than a standard chest x ray. + +Chest X Ray + +This painless test creates pictures of the structures in your chest, such as your heart and lungs. A chest x ray can show areas of abnormal lung and thickened, irregular airway walls. + +Other Tests + +Your doctor may recommend other tests, such as: + +Blood tests. These tests can show whether you have an underlying condition that can lead to bronchiectasis. Blood tests also can show whether you have an infection or low levels of certain infection-fighting blood cells. + +A sputum culture. Lab tests can show whether a sample of your sputum contains bacteria (such as the bacteria that cause tuberculosis) or fungi. + +Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests help show how much lung damage you have. + +A sweat test or other tests for cystic fibrosis. + +Bronchoscopy + +If your bronchiectasis doesn't respond to treatment, your doctor may recommend bronchoscopy (bron-KOS-ko-pee). Doctors use this procedure to look inside the airways. + +During bronchoscopy, a flexible tube with a light on the end is inserted through your nose or mouth into your airways. The tube is called a bronchoscope. It provides a video image of your airways. You'll be given medicine to numb your upper airway and help you relax during the procedure. + +Bronchoscopy can show whether you have a blockage in your airways. The procedure also can show the source of any bleeding in your airways.",NHLBI,Bronchiectasis +What are the treatments for Bronchiectasis ?,"Bronchiectasis often is treated with medicines, hydration, and chest physical therapy (CPT). Your doctor may recommend surgery if the bronchiectasis is isolated to a section of lung or you have a lot of bleeding. + +If the bronchiectasis is widespread and causing respiratory failure, your doctor may recommend oxygen therapy. + +The goals of treatment are to: + +Treat any underlying conditions and lung infections. + +Remove mucus (a slimy substance) from your lungs. Maintaining good hydration helps with mucus removal. + +Prevent complications. + +Early diagnosis and treatment of the underlying cause of bronchiectasis may help prevent further lung damage. + +In addition, any disease associated with the bronchiectasis, such as cystic fibrosisor immunodeficiency, also should be treated. + +Medicines + +Your doctor may prescribe antibiotics, bronchodilators, expectorants, or mucus-thinning medicines to treat bronchiectasis. + +Antibiotics + +Antibiotics are the main treatment for the repeated lung infections that bronchiectasis causes. Oral antibiotics often are used to treat these infections. + +For hard-to-treat infections, your doctor may prescribe intravenous (IV) antibiotics. These medicines are given through an IV line inserted into your arm. Your doctor may help you arrange for a home care provider to give you IV antibiotics at home. + +Expectorants and Mucus-Thinning Medicines + +Your doctor may prescribe expectorants and mucus thinners to help you cough up mucus. + +Expectorants help loosen the mucus in your lungs. They often are combined with decongestants, which may provide extra relief. Mucus thinners, such as acetylcysteine, loosen the mucus to make it easier to cough up. + +For some of these treatments, little information is available to show how well they work. + +Hydration + +Drinking plenty of fluid, especially water, helps prevent airway mucus from becoming thick and sticky. Good hydration helps keep airway mucus moist and slippery, which makes it easier to cough up. + +Chest Physical Therapy + +CPT also is called physiotherapy (FIZ-e-o-THER-ah-pe) or chest clapping or percussion. This technique is generally performed by a respiratory therapist but can be done by a trained member of the family. It involves the therapist pounding your chest and back over and over with his or her hands or a device. Doing this helps loosen the mucus from your lungs so you can cough it up. + +You can sit with your head tilted down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs. + +Some people find CPT hard or uncomfortable to do. Several devices can help with CPT, such as: + +An electric chest clapper, known as a mechanical percussor. + +An inflatable therapy vest that uses high-frequency air waves to force mucus toward your upper airways so you can cough it up. + +A small handheld device that you breathe out through. It causes vibrations that dislodge the mucus. + +A mask that creates vibrations to help break loose mucus from your airway walls. + +Some of these methods and devices are popular with patients and doctors, but little information is available on how well they actually work. Choice usually is based on convenience and cost. + +Several breathing techniques also are used to help move mucus to the upper airway so it can be coughed up. These techniques include forced expiration technique (FET) and active cycle breathing (ACB). + +FET involves forcing out a couple of breaths and then doing relaxed breathing. ACB is FET that involves deep breathing exercises. + +Other Treatments + +Depending on your condition, your doctor also may recommend bronchodilators, inhaled corticosteroids, oxygen therapy, or surgery. + +Bronchodilators + +Bronchodilators relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are inhaled medicines. You will use an inhaler or a nebulizer to breathe in a fine mist of medicine. + +Inhaled bronchodilators work quickly because the medicine goes straight to your lungs. Your doctor may recommend that you use a bronchodilator right before you do CPT. + +Inhaled Corticosteroids + +If you also have wheezing or asthma with your bronchiectasis, your doctor may prescribe inhaled corticosteroids (used to treat inflammation in the airways). + +Oxygen Therapy + +Oxygen therapy can help raise low blood oxygen levels. For this treatment, you'll receive oxygen through nasal prongs or a mask. Oxygen therapy can be done at home, in a hospital, or in another health facility. (For more information, go to the Health Topics Oxygen Therapy article.) + +Surgery + +Your doctor may recommend surgery if no other treatments have helped and only one part of your airway is affected. If you have major bleeding in your airway, your doctor may recommend surgery to remove part of your airway or a procedure to control the bleeding. + +In very rare instances of severe bronchiectasis, your doctor may recommend that you receive a lung transplant replacing your diseased lungs with a healthy set of lungs.",NHLBI,Bronchiectasis +How to prevent Bronchiectasis ?,"To prevent bronchiectasis, it's important to prevent the lung infections and lung damage that can cause it. + +Childhood vaccines for measles and whooping cough prevent infections related to these illnesses. These vaccines also reduce complications from these infections, such as bronchiectasis. + +Avoiding toxic fumes, gases, smoke, and other harmful substances also can help protect your lungs. + +Proper treatment of lung infections in children also may help preserve lung function and prevent lung damage that can lead to bronchiectasis. + +Stay alert to keep children (and adults) from inhaling small objects (such as pieces of toys and food that might stick in a small airway). If you think you, your child, or someone else has inhaled a small object, seek prompt medical care. + +In some cases, treating the underlying cause of bronchiectasis can slow or prevent its progression.",NHLBI,Bronchiectasis +What is (are) Oxygen Therapy ?,"Oxygen therapy is a treatment that provides you with extra oxygen, a gas that your body needs to work well. Normally, your lungs absorb oxygen from the air. However, some diseases and conditions can prevent you from getting enough oxygen. + +Oxygen therapy may help you function better and be more active. Oxygen is supplied in a metal cylinder or other container. It flows through a tube and is delivered to your lungs in one of the following ways: + +Through a nasal cannula, which consists of two small plastic tubes, or prongs, that are placed in both nostrils. + +Through a face mask, which fits over your nose and mouth. + +Through a small tube inserted into your windpipe through the front of your neck. Your doctor will use a needle or small incision (cut) to place the tube. Oxygen delivered this way is called transtracheal oxygen therapy. + +Oxygen therapy can be done in a hospital, another medical setting, or at home. If you need oxygen therapy for a chronic (ongoing) disease or condition, you might receive home oxygen therapy. + +Overview + +To learn how oxygen therapy works, it helps to understand how your respiratory system works. This system is a group of organs and tissues that help you breathe. The respiratory system includes the airways and lungs. + +The airways carry oxygen-rich air to your lungs. They also carry carbon dioxide (a waste gas) out of your lungs. + +Air enters your body through your nose or mouth, which moistens and warms the air. The air then travels through your voice box and down your windpipe. The windpipe divides into two tubes called bronchi that enter your lungs. + +Within your lungs, your bronchi branch into thousands of smaller, thinner tubes called bronchioles (BRONG-ke-ols). These tubes end in bunches of tiny round air sacs called alveoli (al-VEE-uhl-eye). + +Each of the air sacs is covered in a mesh of tiny blood vessels called capillaries (KAP-ih-lare-ees). The capillaries connect to a network of arteries and veins that move blood throughout your body. + +When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. + +The oxygen-rich blood then travels to the heart through the pulmonary vein and its branches. The heart pumps the oxygen-rich blood to your organs. (For more information, go to the Health Topics How the Lungs Work article.) + +Certain acute (short-term) and chronic (ongoing) diseases and conditions can affect the transfer of oxygen from the alveoli into the blood. Examples include pneumonia (nu-MO-ne-ah) and COPD (chronic obstructive pulmonary disease). + +Your doctor will decide whether you need oxygen therapy based on the results of tests, such as an arterial blood gas test and a pulse oximetry test. These tests measure how much oxygen is in your blood. A low oxygen level is a sign that you need oxygen therapy. + +Oxygen is considered a medicine, so your doctor must prescribe it. + +Outlook + +Oxygen therapy helps many people function better and be more active. It also may help: + +Decrease shortness of breath and fatigue (tiredness) + +Improve sleep in some people who have sleep-related breathing disorders + +Increase the lifespan of some people who have COPD + +Although you may need oxygen therapy long term, it doesn't have to limit your daily routine. Portable oxygen units can make it easier for you to move around and do many daily activities. Talk with your doctor if you have questions about whether certain activities are safe for you. + +A home equipment provider will work with you to make sure you have the supplies and equipment you need. Trained staff also will show you how to use the equipment correctly and safely. + +Oxygen therapy generally is safe, but it can pose a fire hazard. To use your oxygen safely, follow the instructions you receive from your home equipment provider.",NHLBI,Oxygen Therapy +What is the outlook for Oxygen Therapy ?,"During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. + +Otherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can measure the amount of oxygen in your blood. + +For an arterial blood gas test, a small needle is inserted into an artery, usually in your wrist. A sample of blood is taken from the artery. The sample is then sent to a laboratory, where its oxygen level is measured. + +For a pulse oximetry test, a small sensor is attached to your fingertip or toe. The sensor uses light to estimate how much oxygen is in your blood. + +If the tests show that your blood oxygen level is low, your doctor may prescribe oxygen therapy. In the prescription, your doctor will include the number of liters of oxygen per minute that you need (oxygen flow rate). He or she also will include how often you need to use the oxygen (frequency of use). + +Frequency of use includes when and for how long you should use the oxygen. Depending on your condition and blood oxygen level, you may need oxygen only at certain times, such as during sleep or while exercising. + +If your doctor prescribes home oxygen therapy, he or she can help you find a home equipment provider. The provider will give you the equipment and other supplies you need.",NHLBI,Oxygen Therapy +What is the outlook for Oxygen Therapy ?,"During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. + +While you're in the hospital, your doctor will check on you to make sure you're getting the right amount of oxygen. Nurses or respiratory therapists also may assist with the oxygen therapy. + +If you're having oxygen therapy at home, a home equipment provider will help you set up the oxygen therapy equipment at your house. + +Trained staff will show you how to use and take care of the equipment. They'll supply the oxygen and teach you how to safely handle it. + +Because oxygen poses a fire risk, you'll need to take certain safety steps. Oxygen isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in can explode if it's exposed to heat. + +Your home equipment provider will give you a complete list of safety steps that you'll need to follow at home and in public. For example, while on oxygen, you should: + +Never smoke or be around people who are smoking + +Never use paint thinners, cleaning fluids, gasoline, aerosol sprays, and other flammable materials + +Stay at least 5 feet away from gas stoves, candles, and other heat sources + +When you're not using the oxygen, keep it in a large, airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes. + +Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.",NHLBI,Oxygen Therapy +Who is at risk for Oxygen Therapy? ?,"Oxygen therapy can cause complications and side effects. These problems might include a dry or bloody nose, skin irritation from the nasal cannula or face mask, fatigue (tiredness), and morning headaches. + +If these problems persist, tell your doctor and home equipment provider. Depending on the problem, your doctor may need to change your oxygen flow rate or the length of time you're using the oxygen. + +If nose dryness is a problem, your doctor may recommend a nasal spray or have a humidifier added to your oxygen equipment. + +If you have an uncomfortable nasal cannula or face mask, your home equipment provider can help you find a device that fits better. Your provider also can recommend over-the-counter gels and devices that are designed to lessen skin irritation. + +Complications from transtracheal oxygen therapy can be more serious. With this type of oxygen therapy, oxygen is delivered through a tube inserted into your windpipe through the front of your neck. + +With transtracheal oxygen therapy: + +Mucus balls might develop on the tube inside the windpipe. Mucus balls tend to form as a result of the oxygen drying out the airways. Mucus balls can cause coughing and clog the windpipe or tube. + +Problems with the tube slipping or breaking. + +Infection. + +Injury to the lining of the windpipe. + +Proper medical care and correct handling of the tube and other supplies may reduce the risk of complications. + +Other Risks + +In certain people, oxygen therapy may suppress the drive to breathe, affecting how well the respiratory system works. This is managed by adjusting the oxygen flow rate. + +Oxygen poses a fire risk, so you'll need to take certain safety steps. Oxygen itself isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in might explode if exposed to heat. + +Your home equipment provider will give you a complete list of safety steps you'll need to take at home and when out in public. + +For example, when you're not using the oxygen, keep it in an airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes. + +Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.",NHLBI,Oxygen Therapy +What is (are) Polycythemia Vera ?,"Polycythemia vera (POL-e-si-THEE-me-ah VAY-rah or VE-rah), or PV, is a rare blood disease in which your body makes too many red blood cells. + +The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily. These clots can block blood flow through your arteries and veins, which can cause a heart attack or stroke. + +Thicker blood also doesn't flow as quickly to your body as normal blood. Slowed blood flow prevents your organs from getting enough oxygen, which can cause serious problems, such as angina (an-JI-nuh or AN-juh-nuh) and heart failure. (Angina is chest pain or discomfort.) + +Overview + +Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. + +Red blood cells are made in your bone marrowa sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. + +If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets. + +A mutation, or change, in the body's JAK2 gene is the major cause of PV. This gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. + +PV develops slowly and may not cause symptoms for years. The disease often is found during routine blood tests done for other reasons. + +When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally. + +For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision. + +Outlook + +PV is a serious, chronic (ongoing) disease that can be fatal if not diagnosed and treated. PV has no cure, but treatments can help control the disease and its complications. + +PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.",NHLBI,Polycythemia Vera +What causes Polycythemia Vera ?,"Primary Polycythemia + +Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. + +What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. However, in some families, the JAK2 gene may have a tendency to mutate. Other, unknown genetic factors also may play a role in causing PV. + +Secondary Polycythemia + +Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia. + +A lack of oxygen over a long period can cause your body to make more of the hormone erythropoietin (EPO). High levels of EPO can prompt your body to make more red blood cells than normal. This leads to thicker blood, as seen in PV. + +People who have severe heart or lung disease may develop secondary polycythemia. People who smoke, spend long hours at high altitudes, or are exposed to high levels of carbon monoxide where they work or live also are at risk. + +For example, working in an underground parking garage or living in a home with a poorly vented fireplace or furnace can raise your risk for secondary polycythemia. + +Rarely, tumors can make and release EPO, or certain blood problems can cause the body to make more EPO. + +Sometimes doctors can cure secondary polycythemiait depends on whether the underlying cause can be stopped, controlled, or cured.",NHLBI,Polycythemia Vera +Who is at risk for Polycythemia Vera? ?,"Polycythemia vera (PV) is a rare blood disease. The disease affects people of all ages, but it's most common in adults who are older than 60. PV is rare in children and young adults. Men are at slightly higher risk for PV than women.",NHLBI,Polycythemia Vera +What are the symptoms of Polycythemia Vera ?,"Polycythemia vera (PV) develops slowly. The disease may not cause signs or symptoms for years. + +When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally. + +The signs and symptoms of PV include: + +Headaches, dizziness, and weakness + +Shortness of breath and problems breathing while lying down + +Feelings of pressure or fullness on the left side of the abdomen due to an enlarged spleen (an organ in the abdomen) + +Double or blurred vision and blind spots + +Itching all over (especially after a warm bath), reddened face, and a burning feeling on your skin (especially your hands and feet) + +Bleeding from your gums and heavy bleeding from small cuts + +Unexplained weight loss + +Fatigue (tiredness) + +Excessive sweating + +Very painful swelling in a single joint, usually the big toe (called gouty arthritis) + +In rare cases, people who have PV may have pain in their bones. + +Polycythemia Vera Complications + +If you have PV, the thickness of your blood and the slowed blood flow can cause serious health problems. + +Blood clots are the most serious complication of PV. Blood clots can cause a heart attack or stroke. They also can cause your liver and spleen to enlarge. Blood clots in the liver and spleen can cause sudden, intense pain. + +Slowed blood flow also prevents enough oxygen-rich blood from reaching your organs. This can lead to angina (chest pain or discomfort) and heart failure. The high levels of red blood cells that PV causes can lead to stomach ulcers, gout, or kidney stones. + +Some people who have PV may develop myelofibrosis (MY-e-lo-fi-BRO-sis). This is a condition in which your bone marrow is replaced with scar tissue. Abnormal bone marrow cells may begin to grow out of control. + +This abnormal growth can lead to acute myelogenous (my-eh-LOJ-eh-nus) leukemia (AML), a cancer of the blood and bone marrow. This disease can worsen very quickly.",NHLBI,Polycythemia Vera +How to diagnose Polycythemia Vera ?,"Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren't normal, your doctor may want to do more tests. + +Your doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results. + +During the physical exam, your doctor will look for signs of PV. He or she will check for an enlarged spleen, red skin on your face, and bleeding from your gums. + +If your doctor confirms that you have polycythemia, the next step is to find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia. + +Your medical history and physical exam may confirm which type of polycythemia you have. If not, you may have tests that check the level of the hormone erythropoietin (EPO) in your blood. + +People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. + +Specialists Involved + +If your primary care doctor thinks you have PV, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in diagnosing and treating blood diseases and conditions. + +Diagnostic Tests + +You may have blood tests to diagnose PV. These tests include a complete blood count (CBC) and other tests, if necessary. + +Complete Blood Count + +Often, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. + +This test checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV. + +The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of PV, a blood disorder, an infection, or another condition. + +In addition to high red blood cell counts, people who have PV also may have high white blood cell and/or platelet counts. + +Other Blood Tests + +Blood smear. For this test, a small sample of blood is drawn from a vein, usually in your arm. The blood sample is examined under a microscope. + +A blood smear can show whether you have a higher than normal number of red blood cells. The test also can show abnormal blood cells that are linked to myelofibrosis and other conditions related to PV. + +Erythropoietin level. This blood test measures the level of EPO in your blood. EPO is a hormone that prompts your bone marrow to make new blood cells. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. + +Bone Marrow Tests + +Bone marrow tests can show whether your bone marrow is healthy. These tests also show whether your bone marrow is making normal amounts of blood cells. + +The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope. + +If the tests show that your bone marrow is making too many blood cells, it may be a sign that you have PV.",NHLBI,Polycythemia Vera +What are the treatments for Polycythemia Vera ?,"Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease. + +Goals of Treatment + +The goals of treating PV are to control symptoms and reduce the risk of complications, especially heart attack and stroke. To do this, PV treatments reduce the number of red blood cells and the level of hemoglobin (an iron-rich protein) in the blood. This brings the thickness of your blood closer to normal. + +Blood with normal thickness flows better through the blood vessels. This reduces the chance that blood clots will form and cause a heart attack or stroke. + +Blood with normal thickness also ensures that your body gets enough oxygen. This can help reduce some of the signs and symptoms of PV, such as headaches, vision problems, and itching. + +Studies show that treating PV greatly improves your chances of living longer. + +The goal of treating secondary polycythemia is to control its underlying cause, if possible. For example, if the cause is carbon monoxide exposure, the goal is to find the source of the carbon monoxide and fix or remove it. + +Treatments To Lower Red Blood Cell Levels + +Phlebotomy + +Phlebotomy (fle-BOT-o-me) is a procedure that removes some blood from your body. For this procedure, a needle is inserted into one of your veins. Blood from the vein flows through an airtight tube into a sterile container or bag. The process is similar to the process of donating blood. + +Phlebotomy reduces your red blood cell count and starts to bring your blood thickness closer to normal. + +Typically, a pint (1 unit) of blood is removed each week until your hematocrit level approaches normal. (Hematocrit is the measure of how much space red blood cells take up in your blood.) + +You may need to have phlebotomy done every few months. + +Medicines + +Your doctor may prescribe medicines to keep your bone marrow from making too many red blood cells. Examples of these medicines include hydroxyurea and interferon-alpha. + +Hydroxyurea is a medicine generally used to treat cancer. This medicine can reduce the number of red blood cells and platelets in your blood. As a result, this medicine helps improve your blood flow and bring the thickness of your blood closer to normal. + +Interferon-alpha is a substance that your body normally makes. It also can be used to treat PV. Interferon-alpha can prompt your immune system to fight overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal. + +Radiation Treatment + +Radiation treatment can help suppress overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal. + +However, radiation treatment can raise your risk of leukemia (blood cancer) and other blood diseases. + +Treatments for Symptoms + +Aspirin can relieve bone pain and burning feelings in your hands or feet that you may have as a result of PV. Aspirin also thins your blood, so it reduces the risk of blood clots. + +Aspirin can have side effects, including bleeding in the stomach and intestines. For this reason, take aspirin only as your doctor recommends. + +If your PV causes itching, your doctor may prescribe medicines to ease the discomfort. Your doctor also may prescribe ultraviolet light treatment to help relieve your itching. + +Other ways to reduce itching include: + +Avoiding hot baths. Cooler water can limit irritation to your skin. + +Gently patting yourself dry after bathing. Vigorous rubbing with a towel can irritate your skin. + +Taking starch baths. Add half a box of starch to a tub of lukewarm water. This can help soothe your skin. + +Experimental Treatments + +Researchers are studying other treatments for PV. An experimental treatment for itching involves taking low doses of selective serotonin reuptake inhibitors (SSRIs). This type of medicine is used to treat depression. In clinical trials, SSRIs reduced itching in people who had PV. + +Imatinib mesylate is a medicine that's approved for treating leukemia. In clinical trials, this medicine helped reduce the need for phlebotomy in people who had PV. This medicine also helped reduce the size of enlarged spleens. + +Researchers also are trying to find a treatment that can block or limit the effects of an abnormal JAK2 gene. (A mutation, or change, in the JAK2 gene is the major cause of PV.)",NHLBI,Polycythemia Vera +How to prevent Polycythemia Vera ?,"Primary polycythemia (polycythemia vera) can't be prevented. However, with proper treatment, you can prevent or delay symptoms and complications. + +Sometimes you can prevent secondary polycythemia by avoiding things that deprive your body of oxygen for long periods. For example, you can avoid mountain climbing, living at a high altitude, or smoking. + +People who have serious heart or lung diseases may develop secondary polycythemia. Treatment for the underlying disease may improve the secondary polycythemia. Following a healthy lifestyle to lower your risk of heart and lung diseases also will help you prevent secondary polycythemia.",NHLBI,Polycythemia Vera +What is (are) Childhood Interstitial Lung Disease ?,"Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath. + +These diseases also harm the lungs in similar ways. For example, they damage the tissues that surround the lungs' alveoli (al-VEE-uhl-eye; air sacs) and bronchial tubes (airways). Sometimes these diseases directly damage the air sacs and airways. + +The various types of chILD can decrease lung function, reduce blood oxygen levels, and disturb the breathing process. + +Overview + +Researchers have only begun to study, define, and understand chILD in the last decade. Currently, they don't know how many children have chILD. They also don't know how many children have each type of chILD. + +Diagnosing chILD and its specific diseases is hard because chILD is rare and complex. Also, chILD is a broad term for a group of diseases with similar symptomsit's not a precise diagnosis. + +Interstitial lung disease (ILD) also occurs in adults. However, the cause of ILD in adults may be different than the cause in children. Some types of chILD are similar to the adult forms of the disease. They may even have the same names as the adult forms, such as hypersensitivity pneumonitis (noo-mo-NI-tis), immunodeficiency-associated lung disease, and bronchiolitis (brong-ke-o-LI-tis) obliterans. + +However, research shows that the course and outcomes of these diseases often are very different for children than for adults. + +Some ILDs only occur in children. They include: + +Lung growth abnormalities + +Neuroendocrine (noor-o-EN-do-krin) cell hyperplasia (hi-per-PLA-ze-ah) of infancy (NEHI) + +Pulmonary interstitial glycogenosis (gli-ko-JEN-eh-sis) + +Developmental disorders, such as alveolar (al-VE-o-lar) capillary dysplasia + +Outlook + +Each form of chILD may differ in its severity and how it's treated. Thus, getting a correct diagnosis is vital for understanding and treating your child's illness. + +You may want to consult a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. This doctor's training and experience can help him or her diagnose chILD. + +The outlook for children who have chILD also depends on the specific type of disease they have. Some diseases are very severe and lead to early death. Others are chronic (long-term) diseases that parents and the child's medical team must work together to manage. + +At this time, chILD has no cure. However, some children who have certain diseases, such as NEHI, may slowly improve over time. + +Researchers are now starting to learn more about the causes of chILD. They're also trying to find distinct patterns and traits for the various forms of chILD. This information may help doctors better understand these diseases.",NHLBI,Childhood Interstitial Lung Disease +What causes Childhood Interstitial Lung Disease ?,"Researchers don't yet know all of the causes of childhood interstitial lung disease (chILD). Many times, these diseases have no clear cause. + +Some conditions and factors that may cause or lead to chILD include: + +Inherited conditions, such as surfactant disorders. Surfactant is a liquid that coats the inside of the lungs. It helps with breathing and may help protect the lungs from bacterial and viral infections. + +Birth defects that cause problems with the structure or function of the lungs. + +Aspiration (as-pih-RA-shun). This term refers to inhaling substancessuch as food, liquid, or vomitinto the lungs. Inhaling these substances can injure the lungs. Aspiration may occur in children who have swallowing problems or gastroesophageal (GAS-tro-eh-so-fa-JE-al) reflux disease (GERD). GERD occurs if acid from the stomach backs up into the throat. + +Immune system disorders. The immune system protects the body against bacteria, viruses, and toxins. Children who have immune system disorders aren't able to fight illness and disease as well as children who have healthy immune systems. + +Exposure to substances in the environment that can irritate the lungs, such as molds and chemicals. + +Some cancer treatments, such as radiation and chemotherapy. + +Systemic or autoimmune diseases, such as collagen vascular disease or inflammatory bowel disease. Systemic diseases are diseases that involve many of the body's organs. Autoimmune diseases occur if the body's immune system mistakenly attacks the body's tissues and cells. + +A bone marrow transplant or a lung transplant.",NHLBI,Childhood Interstitial Lung Disease +Who is at risk for Childhood Interstitial Lung Disease? ?,"Childhood interstitial lung disease (chILD) is rare. Most children are not at risk for chILD. However, some factors increase the risk of developing chILD. These risk factors include: + +Having a family history of interstitial lung disease or chILD. + +Having an inherited surfactant disorder or a family history of this type of disorder. Surfactant is a liquid that coats the inside of the lungs. It helps with breathing and may help protect the lungs from bacterial and viral infections. + +Having problems with aspiration. This term ""aspiration"" refers to inhaling substancessuch as food, liquid, or vomitinto the lungs. + +Having an immune system disorder. The immune system protects the body against bacteria, viruses, and toxins. Children who have immune system disorders aren't able to fight illness and disease as well as children who have healthy immune systems. + +Being exposed to substances in the environment that can irritate the lungs, such as molds and chemicals. + +Having a systemic or autoimmune disease, such as collagen vascular disease or inflammatory bowel disease. Systemic diseases are diseases that involve many of the body's organs. Autoimmune diseases occur if the body's immune system mistakenly attacks the body's tissues and cells. + +Undergoing some cancer treatments, such as radiation and chemotherapy. + +Having a bone marrow transplant or a lung transplant. + +Certain types of chILD are more common in infants and young children, while others can occur in children of any age. For more information, go to ""Types of Childhood Interstitial Lung Disease."" + +The risk of death seems to be higher for children who have chILD and pulmonary hypertension, developmental or growth disorders, bone marrow transplants, or certain surfactant problems.",NHLBI,Childhood Interstitial Lung Disease +What are the symptoms of Childhood Interstitial Lung Disease ?,"Childhood interstitial lung disease (chILD) has many signs and symptoms because the disease has many forms. Signs and symptoms may include: + +Fast breathing, which also is called tachypnea (tak-ip-NE-ah) + +Labored breathing, which also is called respiratory distress + +Low oxygen levels in the blood, which also is called hypoxemia (hi-POK-se-ah) + +Recurrent coughing, wheezing, or crackling sounds in the chest + +Shortness of breath during exercise (in older children) or while eating (in infants), which also is called dyspnea (disp-NE-ah) + +Poor growth or failure to gain weight + +Recurrent pneumonia or bronchiolitis + +If your child has any of these signs and symptoms, contact his or her doctor. The doctor may refer you to a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions.",NHLBI,Childhood Interstitial Lung Disease +How to diagnose Childhood Interstitial Lung Disease ?,"Doctors diagnose childhood interstitial lung disease (chILD) based on a child's medical and family histories and the results from tests and procedures. To diagnose chILD, doctors may first need to rule out other diseases as the cause of a child's symptoms. + +Early diagnosis of chILD may help doctors stop or even reverse lung function problems. Often though, doctors find chILD hard to diagnose because: + +There are many types of the disease and a range of underlying causes + +The disease's signs and symptoms are the same as those for many other diseases + +The disease may coexist with other diseases + +Going to a pediatric pulmonologist who has experience with chILD is helpful. A pediatric pulmonologist is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. + +Medical and Family Histories + +Your child's medical history can help his or her doctor diagnose chILD. The doctor may ask whether your child: + +Has severe breathing problems that occur often. + +Has had severe lung infections. + +Had serious lung problems as a newborn. + +Has been exposed to possible lung irritants in the environment, such as birds, molds, dusts, or chemicals. + +Has ever had radiation or chemotherapy treatment. + +Has an autoimmune disease, certain birth defects, or other medical conditions. (Autoimmune diseases occur if the body's immune system mistakenly attacks the bodys tissues and cells.) + +The doctor also may ask how old your child was when symptoms began, and whether other family members have or have had severe lung diseases. If they have, your child may have an inherited form of chILD. + +Diagnostic Tests and Procedures + +No single test can diagnose the many types of chILD. Thus, your child's doctor may recommend one or more of the following tests. For some of these tests, infants and young children may be given medicine to help them relax or sleep. + +A chest x ray. This painless test creates pictures of the structures inside your child's chest, such as the heart, lungs, and blood vessels. A chest x ray can help rule out other lung diseases as the cause of your child's symptoms. + +A high-resolution CT scan (HRCT). An HRCT scan uses x rays to create detailed pictures of your child's lungs. This test can show the location, extent, and severity of lung disease. + +Lung function tests. These tests measure how much air your child can breathe in and out, how fast he or she can breathe air out, and how well your child's lungs deliver oxygen to the blood. Lung function tests can assess the severity of lung disease. Infants and young children may need to have these tests at a center that has special equipment for children. + +Bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH). For this procedure, the doctor injects a small amount of saline (salt water) through a tube inserted in the child's lungs. The fluid helps bring up cells from the tissues around the air sacs. The doctor can then look at these cells under a microscope. This procedure can help detect an infection, lung injury, bleeding, aspiration, or an airway problem. + +Various tests to rule out conditions such as asthma, cystic fibrosis, acid reflux, heart disease, neuromuscular disease, and immune deficiency. + +Various tests for systemic diseases linked to chILD. Systemic diseases are diseases that involve many of the body's organs. + +Blood tests to check for inherited (genetic) diseases and disorders. + +If these tests don't provide enough information, your child's doctor may recommend a lung biopsy. A lung biopsy is the most reliable way to diagnose chILD and the specific disease involved. + +A lung biopsy is a surgical procedure that's done in a hospital. Before the biopsy, your child will receive medicine to make him or her sleep. + +During the biopsy, the doctor will take small samples of lung tissue from several places in your child's lungs. This often is done using video-assisted thoracoscopy (thor-ah-KOS-ko-pe). + +For this procedure, the doctor inserts a small tube with a light and camera (endoscope) into your child's chest through small cuts between the ribs. The endoscope provides a video image of the lungs and allows the doctor to collect tissue samples. + +After the biopsy, the doctor will look at these samples under a microscope.",NHLBI,Childhood Interstitial Lung Disease +What are the treatments for Childhood Interstitial Lung Disease ?,"Childhood interstitial lung disease (chILD) is rare, and little research has been done on how to treat it. At this time, chILD has no cure. However, some children who have certain diseases, such as neuroendocrine cell hyperplasia of infancy, may slowly improve over time. + +Current treatment approaches include supportive therapy, medicines, and, in the most serious cases, lung transplants. + +Supportive Therapy + +Supportive therapy refers to treatments that help relieve symptoms or improve quality of life. Supportive approaches used to relieve common chILD symptoms include: + +Oxygen therapy. If your child's blood oxygen level is low, he or she may need oxygen therapy. This treatment can improve breathing, support growth, and reduce strain on the heart. + +Bronchodilators. These medications relax the muscles around your childs airways, which helps open the airways and makes breathing easier. + +Breathing devices. Children who have severe disease may need ventilators or other devices to help them breathe easier. + +Extra nutrition. This treatment can help improve your child's growth and help him or her gain weight. Close monitoring of growth is especially important. + +Techniques and devices to help relieve lung congestion. These may include chest physical therapy (CPT) or wearing a vest that helps move mucus (a sticky substance) to the upper airways so it can be coughed up. CPT may involve pounding the chest and back over and over with your hands or a device to loosen mucus in the lungs so that your child can cough it up. + +Supervised pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. + +Medicines + +Corticosteroids are a common treatment for many children who have chILD. These medicines help reduce lung inflammation. + +Other medicines can help treat specific types or causes of chILD. For example, antimicrobial medicines can treat a lung infection. Acid-blocking medicines can prevent acid reflux, which can lead to aspiration. + +Lung Transplant + +A lung transplant may be an option for children who have severe chILD if other treatments haven't worked. + +Currently, lung transplants are the only effective treatment for some types of chILD that have a high risk of death, such as alveolar capillary dysplasia and certain surfactant dysfunction mutations. + +Early diagnosis of these diseases gives children the chance to receive lung transplants. So far, chILD doesn't appear to come back in patients' transplanted lungs. + +For more information about this treatment, go to the Health Topics Lung Transplant article.",NHLBI,Childhood Interstitial Lung Disease +How to prevent Childhood Interstitial Lung Disease ?,"At this time, most types of childhood interstitial lung disease (chILD) can't be prevented. People who have a family history of inherited (genetic) interstitial lung disease may want to consider genetic counseling. A counselor can explain the risk of children inheriting chILD. + +You and your child can take steps to help prevent infections and other illnesses that worsen chILD and its symptoms. For example: + +Make hand washing a family habit to avoid germs and prevent illnesses. + +Try to keep your child away from people who are sick. Even a common cold can cause problems for someone who has chILD. + +Talk with your child's doctor about vaccines that your child needs, such as an annual flu shot. Make sure everyone in your household gets all of the vaccines that their doctors recommend. + +Talk with your child's doctor about how to prevent your child from getting respiratory syncytial (sin-SIT-e-al) virus. This common virus leads to cold and flu symptoms for most people. However, it can make children who have lung diseases very sick. + +Avoid exposing your child to air pollution, tobacco smoke, and other substances that can irritate his or her lungs. Strongly advise your child not to smoke now or in the future.",NHLBI,Childhood Interstitial Lung Disease +What is (are) Pleurisy and Other Pleural Disorders ?,"Pleurisy (PLUR-ih-se) is a condition in which the pleura is inflamed. The pleura is a membrane that consists of two large, thin layers of tissue. One layer wraps around the outside of your lungs. The other layer lines the inside of your chest cavity. + +Between the layers of tissue is a very thin space called the pleural space. Normally this space is filled with a small amount of fluidabout 4 teaspoons full. The fluid helps the two layers of the pleura glide smoothly past each other as you breathe in and out. + +Pleurisy occurs if the two layers of the pleura become irritated and inflamed. Instead of gliding smoothly past each other, they rub together every time you breathe in. The rubbing can cause sharp pain. + +Many conditions can cause pleurisy, including viral infections. + +Other Pleural Disorders + +Pneumothorax + +Air or gas can build up in the pleural space. When this happens, it's called a pneumothorax (noo-mo-THOR-aks). A lung disease or acute lung injury can cause a pneumothorax. + +Some lung procedures also can cause a pneumothorax. Examples include lung surgery, drainage of fluid with a needle,bronchoscopy (bron-KOS-ko-pee), andmechanical ventilation. + +Sometimes the cause of a pneumothorax isn't known. + +The most common symptoms of a pneumothorax are sudden pain in one side of the lung and shortness of breath. The air or gas in the pleural space also can put pressure on the lung and cause it to collapse. + +Pleurisy and Pneumothorax + + + +A small pneumothorax may go away without treatment. A large pneumothorax may require a procedure to remove air or gas from the pleural space. + +A very large pneumothorax can interfere with blood flow through your chest and cause your blood pressure to drop. This is called a tension pneumothorax. + +Pleural Effusion + +In some cases of pleurisy, excess fluid builds up in the pleural space. This is called a pleural effusion. A lot of extra fluid can push the pleura against your lung until the lung, or part of it, collapses. This can make it hard for you to breathe. + +Sometimes the extra fluid gets infected and turns into an abscess. When this happens, it's called an empyema (em-pi-E-ma). + +You can develop a pleural effusion even if you don't have pleurisy. For example,pneumonia, (nu-MO-ne-ah),heart failure, cancer, or pulmonary embolism (PULL-mun-ary EM-bo-lizm) can lead to a pleural effusion. + +Hemothorax + +Blood also can build up in the pleural space. This condition is called a hemothorax (he-mo-THOR-aks). An injury to your chest, chest or heart surgery, or lung or pleural cancer can cause a hemothorax. + +A hemothorax can put pressure on the lung and cause it to collapse. A hemothorax also can cause shock. In shock, not enough blood and oxygen reach your body's vital organs. + +Outlook + +Pleurisy and other pleural disorders can be serious, depending on their causes. If the condition that caused the pleurisy or other pleural disorder isn't too serious and is diagnosed and treated early, you usually can expect a full recovery.",NHLBI,Pleurisy and Other Pleural Disorders +What causes Pleurisy and Other Pleural Disorders ?,"Pleurisy + +Many conditions can cause pleurisy. Viral infections are likely the most common cause. Other causes of pleurisy include: + +Bacterial infections, such as pneumonia (nu-MO-ne-ah) and tuberculosis, and infections from fungi or parasites + +Pulmonary embolism, a blood clot that travels through the blood vessels to the lungs + +Autoimmune disorders, such as lupus and rheumatoid arthritis + +Cancer, such as lung cancer, lymphoma, and mesothelioma (MEZ-o-thee-lee-O-ma) + +Chest and heart surgery, especially coronary artery bypass grafting + +Lung diseases, such as LAM (lymphangioleiomyomatosis) or asbestosis (as-bes-TO-sis) + +Inflammatory bowel disease + +Familial Mediterranean fever, an inherited condition that often causes fever and swelling in the abdomen or lungs + +Other causes of pleurisy include chest injuries, pancreatitis (an inflamed pancreas), and reactions to certain medicines. Reactions to certain medicines can cause a condition similar to lupus. These medicines include procainamide, hydralazine, and isoniazid. + +Sometimes doctors can't find the cause of pleurisy. + +Pneumothorax + +Lung diseases or acute lung injury can make it more likely that you will develop a pneumothorax (a buildup of air or gas in the pleural space). Such lung diseases may include COPD (chronic obstructive pulmonary disease), tuberculosis, and LAM. + +Surgery or a chest injury also may cause a pneumothorax. + +You can develop a pneumothorax without having a recognized lung disease or chest injury. This is called a spontaneous pneumothorax. Smoking increases your risk of spontaneous pneumothorax. Having a family history of the condition also increases your risk. + +Pleural Effusion + +The most common cause of a pleural effusion (a buildup of fluid in the pleural space) is heart failure. Lung cancer, LAM, pneumonia, tuberculosis, and other lung infections also can lead to a pleural effusion. + +Sometimes kidney or liver disease can cause fluid to build up in the pleural space. Asbestosis, sarcoidosis (sar-koy-DO-sis), and reactions to some medicines also can lead to a pleural effusion. + +Hemothorax + +An injury to the chest, chest or heart surgery, or lung or pleural cancer can cause a hemothorax (buildup of blood in the pleural space). + +A hemothorax also can be a complication of an infection (for example, pneumonia), tuberculosis, or a spontaneous pneumothorax.",NHLBI,Pleurisy and Other Pleural Disorders +What are the symptoms of Pleurisy and Other Pleural Disorders ?,"Pleurisy + +The main symptom of pleurisy is a sharp or stabbing pain in your chest that gets worse when you breathe in deeply or cough or sneeze. + +The pain may stay in one place or it may spread to your shoulders or back. Sometimes the pain becomes a fairly constant dull ache. + +Depending on what's causing the pleurisy, you may have other symptoms, such as: + +Shortness of breath or rapid, shallow breathing + +Coughing + +Fever and chills + +Unexplained weight loss + +Pneumothorax + +The symptoms of pneumothorax include: + +Sudden, sharp chest pain that gets worse when you breathe in deeply or cough + +Shortness of breath + +Chest tightness + +Easy fatigue (tiredness) + +A rapid heart rate + +A bluish tint to the skin caused by lack of oxygen + +Other symptoms of pneumothorax include flaring of the nostrils; anxiety, stress, and tension; and hypotension (low blood pressure). + +Pleural Effusion + +Pleural effusion often has no symptoms. + +Hemothorax + +The symptoms of hemothorax often are similar to those of pneumothorax. They include: + +Chest pain + +Shortness of breath + +Respiratory failure + +A rapid heart rate + +Anxiety + +Restlessness",NHLBI,Pleurisy and Other Pleural Disorders +How to diagnose Pleurisy and Other Pleural Disorders ?,"Your doctor will diagnose pleurisy or another pleural disorder based on your medical history, a physical exam, and test results. + +Your doctor will want to rule out other causes of your symptoms. He or she also will want to find the underlying cause of the pleurisy or other pleural disorder so it can be treated. + +Medical History + +Your doctor may ask detailed questions about your medical history. He or she likely will ask you to describe any pain, especially: + +What it feels like + +Where it's located and whether you can feel it in your arms, jaw, or shoulders + +When it started and whether it goes away and then comes back + +What makes it better or worse + +Your doctor also may ask whether you have other symptoms, such as shortness of breath, coughing, or palpitations. Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or fast. + +Your doctor also may ask whether you've ever: + +Had heart disease. + +Smoked. + +Traveled to places where you may have been exposed to tuberculosis. + +Had a job that exposed you to asbestos. Asbestos is a mineral that, at one time, was widely used in many industries. + +Your doctor also may ask about medicines you take or have taken. Reactions to some medicines can cause pleurisy or other pleural disorders. + +Physical Exam + +Your doctor will listen to your breathing with a stethoscope to find out whether your lungs are making any abnormal sounds. + +If you have pleurisy, the inflamed layers of the pleura make a rough, scratchy sound as they rub against each other when you breathe. Doctors call this a pleural friction rub. If your doctor hears the friction rub, he or she will know that you have pleurisy. + +If you have a pleural effusion, fluid buildup in the pleural space will prevent a friction rub. But if you have a lot of fluid, your doctor may hear a dull sound when he or she taps on your chest. Or, he or she may have trouble hearing any breathing sounds. + +Muffled or dull breathing sounds also can be a sign of a pneumothorax (a buildup of air or gas in the pleural space). + +Diagnostic Tests + +Depending on the results of your physical exam, your doctor may recommend tests. + +Chest X Ray + +Achest x rayis a painless test that creates a picture of the structures in your chest, such as your heart, lungs, and blood vessels. This test may show air or fluid in the pleural space. + +A chest x ray also may show what's causing a pleural disorderfor example, pneumonia, a fractured rib, or a lung tumor. + +Sometimes a chest x ray is taken while you lie on your side. This position can show fluid that didn't appear on an x ray taken while you were standing. + +Chest CT Scan + +A chest computed tomography (to-MOG-rah-fee) scan, orchest CT scan,is a painless test that creates precise pictures of the structures in your chest. + +This test provides a computer-generated picture of your lungs that can show pockets of fluid. A chest CT scan also may show signs of pneumonia, a lung abscess, a tumor, or other possible causes of pleural disorders. + +Ultrasound + +This test uses sound waves to create pictures of your lungs. An ultrasound may show where fluid is located in your chest. The test also can show some tumors. + +Chest MRI + +A chest magnetic resonance imaging scan, orchest MRI,uses radio waves, magnets, and a computer to created detailed pictures of the structures in your chest. This test can show pleural effusions and tumors. + +This test also is called a magnetic resonance (MR) scan or a nuclear magnetic resonance (NMR) scan. + +Blood Tests + +Blood testscan show whether you have an illness that increases your risk of pleurisy or another pleural disorder. Such illnesses include bacterial or viral infections, pneumonia, pancreatitis (an inflamed pancreas), kidney disease, or lupus. + +Arterial Blood Gas Test + +For this test, a blood sample is taken from an artery, usually in your wrist. The blood's oxygen and carbon dioxide levels are checked. This test shows how well your lungs are taking in oxygen. + +Thoracentesis + +Once your doctor knows whether fluid has built up in the pleural space and where it is, he or she can remove a sample for testing. This is done using a procedure calledthoracentesis(THOR-ah-sen-TE-sis). + +During the procedure, your doctor inserts a thin needle or plastic tube into the pleural space and draws out the excess fluid. After the fluid is removed from your chest, it's sent for testing. + +The risks of thoracentesissuch as pain, bleeding, and infectionusually are minor. They get better on their own, or they're easily treated. Your doctor may do a chest x ray after the procedure to check for complications. + +Fluid Analysis + +The fluid removed during thoracentesis is examined under a microscope. It's checked for signs of infection, cancer, or other conditions that can cause fluid or blood to build up in the pleural space. + +Biopsy + +Your doctor may suspect that tuberculosis or cancer has caused fluid to build up in your pleural space. If so, he or she may want to look at a small piece of the pleura under a microscope. + +To take a tissue sample, your doctor may do one of the following procedures: + +Insert a needle into your chest to remove a small sample of the pleura's outer layer. + +Insert a tube with a light on the end (endoscope) into tiny cuts in your chest wall so that he or she can see the pleura. Your doctor can then snip out small pieces of tissue. This procedure must be done in a hospital. You'll be given medicine to make you sleep during the procedure. + +Snip out a sample of the pleura through a small cut in your chest wall. This is called an open pleural biopsy. It's usually done if the sample from the needle biopsy is too small for an accurate diagnosis. This procedure must be done in a hospital. You'll be given medicine to make you sleep during the procedure.",NHLBI,Pleurisy and Other Pleural Disorders +What are the treatments for Pleurisy and Other Pleural Disorders ?,"Pleurisy and other pleural disorders are treated with procedures, medicines, and other methods. The goals of treatment include: + +Relieving symptoms + +Removing the fluid, air, or blood from the pleural space (if a large amount is present) + +Treating the underlying condition + +Relieving Symptoms + +To relieve pleurisy symptoms, your doctor may recommend: + +Acetaminophen or anti-inflammatory medicines (such as ibuprofen) to control pain. + +Codeine-based cough syrups to controlcoughing. + +Lying on your painful side. This might make you more comfortable. + +Breathing deeply and coughing to clear mucus as the pain eases. Otherwise, you may developpneumonia. + +Getting plenty of rest. + +Removing Fluid, Air, or Blood From the Pleural Space + +Your doctor may recommend removing fluid, air, or blood from your pleural space to prevent a lung collapse. + +The procedures used to drain fluid, air, or blood from the pleural space are similar. + +Duringthoracentesis, your doctor will insert a thin needle or plastic tube into the pleural space. An attached syringe will draw fluid out of your chest. This procedure can remove more than 6 cups of fluid at a time. + +If your doctor needs to remove a lot of fluid, he or she may use a chest tube. Your doctor will inject a painkiller into the area of your chest wall where the fluid is. He or she will then insert a plastic tube into your chest between two ribs. The tube will be connected to a box that suctions out the fluid. Your doctor will use achest x ray to check the tube's position. + +Your doctor also can use a chest tube to drain blood and air from the pleural space. This process can take several days. The tube will be left in place, and you'll likely stay in the hospital during this time. + +Sometimes the fluid in the pleural space contains thick pus or blood clots. It may form a hard skin or peel, which makes the fluid harder to drain. To help break up the pus or blood clots, your doctor may use a chest tube to deliver medicines called fibrinolytics to the pleural space. If the fluid still won't drain, you may need surgery. + +If you have a small, persistent air leak into the pleural space, your doctor may attach a one-way valve to the chest tube. The valve allows air to exit the pleural space, but not reenter. Using this type of valve may allow you to continue your treatment from home. + +Treat the Underlying Condition + +The fluid sample that was removed during thoracentesis will be checked under a microscope. This can tell your doctor what's causing the fluid buildup, and he or she can decide the best way to treat it. + +If the fluid is infected, treatment will involve antibiotics and drainage. If you have tuberculosis or a fungal infection, treatment will involve long-term use of antibiotics or antifungal medicines. + +If tumors in the pleura are causing fluid buildup, the fluid may quickly build up again after it's drained. Sometimes antitumor medicines will prevent further fluid buildup. If they don't, your doctor may seal the pleural space. Sealing the pleural space is called pleurodesis (plur-OD-eh-sis). + +For this procedure, your doctor will drain all of the fluid out of your chest through a chest tube. Then he or she will push a substance through the chest tube into the pleural space. The substance will irritate the surface of the pleura. This will cause the two layers of the pleura to stick together, preventing more fluid from building up. + +Chemotherapy or radiation treatment also may be used to reduce the size of the tumors. + +Ifheart failureis causing fluid buildup, treatment usually includes diuretics (medicines that help reduce fluid buildup) and other medicines.",NHLBI,Pleurisy and Other Pleural Disorders +What is (are) Pulmonary Hypertension ?,"Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. + +PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. As the condition worsens, its symptoms may limit all physical activity. + +Overview + +To understand PH, it helps to understand how your heart and lungs work. Your heart has two sides, separated by an inner wall called the septum. + +Each side of your heart has an upper and lower chamber. The lower right chamber of your heart, the right ventricle (VEN-trih-kul), pumps blood to your pulmonary arteries. The blood then travels to your lungs, where it picks up oxygen. + +The upper left chamber of your heart, the left atrium (AY-tree-um), receives the oxygen-rich blood from your lungs. The blood is then pumped into the lower left chamber of your heart, the left ventricle. From the left ventricle, the blood is pumped to the rest of your body through an artery called the aorta. + +For more information about the heart and lungs, go to the Diseases and Conditions Index How the Heart Works and How the Lungs Work articles. + +PH begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if: + +The walls of the arteries tighten. + +The walls of the arteries are stiff at birth or become stiff from an overgrowth of cells. + +Blood clots form in the arteries. + +These changes make it hard for your heart to push blood through your pulmonary arteries and into your lungs. As a result, the pressure in your arteries rises. Also, because your heart is working harder than normal, your right ventricle becomes strained and weak. + +Your heart may become so weak that it can't pump enough blood to your lungs. This causes heart failure. Heart failure is the most common cause of death in people who have PH. + +PH is divided into five groups based on its causes. In all groups, the average pressure in the pulmonary arteries is higher than 25 mmHg at rest or 30 mmHg during physical activity. The pressure in normal pulmonary arteries is 820 mmHg at rest. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Other diseases or conditions, such as heart and lung diseases or blood clots, usually cause PH. Some people inherit the condition (that is, their parents pass the genes for PH on to them). In some cases, the cause isn't known. + +Outlook + +PH has no cure. However, research for new treatments is ongoing. The earlier PH is treated, the easier it is to control. + +Treatments include medicines, procedures, and other therapies. These treatments can relieve PH symptoms and slow the progress of the disease. Lifestyle changes also can help control symptoms.",NHLBI,Pulmonary Hypertension +What causes Pulmonary Hypertension ?,"Pulmonary hypertension (PH) begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if: + +The walls of the arteries tighten. + +The walls of the arteries are stiff at birth or become stiff from an overgrowth of cells. + +Blood clots form in the arteries. + +These changes make it hard for your heart to push blood through your pulmonary arteries and into your lungs. Thus, the pressure in the arteries rises, causing PH. + +Many factors can contribute to the process that leads to the different types of PH. + +Group 1 pulmonary arterial hypertension (PAH) may have no known cause, or the condition may be inherited. (""Inherited"" means the condition is passed from parents to children through genes.) + +Some diseases and conditions also can cause group 1 PAH. Examples include HIV infection, congenital heart disease, and sickle cell disease. Also, the use of street drugs (such as cocaine) and certain diet medicines can lead to PAH. + +Many diseases and conditions can cause groups 2 through 5 PH (often called secondary PH), including: + +Mitral valve disease + +Lung diseases, such as COPD (chronic obstructive pulmonary disease) + +Sleep apnea + +Sarcoidosis + +For more information about the types of PH and the diseases, conditions, and factors that can cause them, go to ""Types of Pulmonary Hypertension.""",NHLBI,Pulmonary Hypertension +Who is at risk for Pulmonary Hypertension? ?,"The exact number of people who have pulmonary hypertension (PH) isn't known. + +Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight. + +PH that occurs with another disease or condition is more common. + +PH usually develops between the ages of 20 and 60, but it can occur at any age. People who are at increased risk for PH include: + +Those who have a family history of the condition. + +Those who have certain diseases or conditions, such as heart and lung diseases, liver disease, HIV infection, or blood clots in the pulmonary arteries. (For more information about the diseases, conditions, and factors that cause PH, go to ""Types of Pulmonary Hypertension."") + +Those who use street drugs (such as cocaine) or certain diet medicines. + +Those who live at high altitudes.",NHLBI,Pulmonary Hypertension +What are the symptoms of Pulmonary Hypertension ?,"Signs and symptoms of pulmonary hypertension (PH) may include: + +Shortness of breath during routine activity, such as climbing two flights of stairs + +Tiredness + +Chest pain + +A racing heartbeat + +Pain on the upper right side of the abdomen + +Decreased appetite + +As PH worsens, you may find it hard to do any physical activities. At this point, other signs and symptoms may include: + +Feeling light-headed, especially during physical activity + +Fainting at times + +Swelling in your legs and ankles + +A bluish color on your lips and skin",NHLBI,Pulmonary Hypertension +How to diagnose Pulmonary Hypertension ?,"Your doctor will diagnose pulmonary hypertension (PH) based on your medical and family histories, a physical exam, and the results from tests and procedures. + +PH can develop slowly. In fact, you may have it for years and not know it. This is because the condition has no early signs or symptoms. + +When symptoms do occur, they're often like those of other heart and lung conditions, such as asthma. This makes PH hard to diagnose. + +Medical and Family Histories + +Your doctor may ask about your signs and symptoms and how and when they began. He or she also may ask whether you have other medical conditions that can cause PH. + +Your doctor will want to know whether you have any family members who have or have had PH. People who have a family history of PH are at higher risk for the condition. + +Physical Exam + +During the physical exam, your doctor will listen to your heart and lungs with a stethoscope. He or she also will check your ankles and legs for swelling and your lips and skin for a bluish color. These are signs of PH. + +Diagnostic Tests and Procedures + +Your doctor may recommend tests and procedures to confirm a diagnosis of PH and to look for its underlying cause. Your doctor also will use test results to find out the severity of your PH. + +Tests and Procedures To Confirm a Diagnosis + +Echocardiography. Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, uses sound waves to create a moving picture of your heart. This test can estimate the pressure in your pulmonary arteries. Echo also can show the size and thickness of your right ventricle and how well it's working. + +Chest x ray. A chest x ray takes pictures of the structures in your chest, such as your heart, lungs, and blood vessels. This test can show whether your pulmonary arteries and right ventricle are enlarged. + +The pulmonary arteries and right ventricle may get larger if the right ventricle has to work hard to pump blood through the pulmonary arteries. + +A chest x ray also may show signs of an underlying lung disease that's causing or contributing to PH. + +EKG (electrocardiogram). An EKG is a simple, painless test that records the heart's electrical activity. This test also shows whether your heart's rhythm is steady or irregular. An EKG may show whether your right ventricle is enlarged or strained. + +Right heart catheterization. This procedure measures the pressure in your pulmonary arteries. It also shows how well your heart is pumping blood to the rest of your body. Right heart catheterization (KATH-e-ter-ih-ZA-shun) can find any leaks between the left and right side of the heart. + +During this procedure, a thin, flexible tube called a catheter is put into a blood vessel in your groin (upper thigh) or neck. The tube is threaded into the right side of your heart and into the pulmonary arteries. Through the tube, your doctor can do tests and treatments on your heart. + +Tests To Look for the Underlying Cause of Pulmonary Hypertension + +PH has many causes, so many tests may need to be done to find its underlying cause. + +Chest CT scan. A chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. These pictures can show signs of PH or a condition that may be causing PH. + +Chest MRI. Chest magnetic resonance imaging, or chest MRI, shows how your right ventricle is working. The test also shows blood flow in your lungs. Chest MRI also can help detect signs of PH or an underlying condition causing PH. + +Lung function tests. Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests can help detect a lung disease that may be causing PH. + +Polysomnogram (PSG). This test records brain activity, eye movements, heart rate, and blood pressure while you sleep. A PSG also measures the level of oxygen in your blood. A low oxygen level during sleep is common in PH, and it can make the condition worse. + +A PSG usually is done while you stay overnight at a sleep center. For more information about this test, go to the Diseases and Conditions Index Sleep Studies article. + +Lung ventilation/perfusion (VQ) scan. A lung VQ scan measures air and blood flow in your lungs. This test can help detect blood clots in your lung's blood vessels. + +Blood tests. Blood tests are used to rule out other diseases, such as HIV, liver disease, and autoimmune diseases (such as rheumatoid arthritis). + +Finding Out the Severity of Pulmonary Hypertension + +Exercise testing is used to find out the severity of PH. This testing consists of either a 6-minute walk test or a cardiopulmonary exercise test. + +A 6-minute walk test measures the distance you can quickly walk in 6 minutes. A cardiopulmonary exercise test measures how well your lungs and heart work while you exercise on a treadmill or bicycle. + +During exercise testing, your doctor will rate your activity level. Your level is linked to the severity of your PH. The rating system ranges from class 1 to class 4. + +Class 1 has no limits. You can do regular physical activities, such as walking or climbing stairs. These activities don't cause PH symptoms, such as tiredness, shortness of breath, or chest pain. + +Class 2 has slight or mild limits. You're comfortable while resting, but regular physical activity causes PH symptoms. + +Class 3 has marked or noticeable limits. You're comfortable while resting. However, walking even one or two blocks or climbing one flight of stairs can cause PH symptoms. + +Class 4 has severe limits. You're not able to do any physical activity without discomfort. You also may have PH symptoms while at rest. + +Over time, you may need more exercise tests to find out how well your treatments are working. Each time testing is done, your doctor will compare your activity level with the previous one.",NHLBI,Pulmonary Hypertension +What are the treatments for Pulmonary Hypertension ?,"Pulmonary hypertension (PH) has no cure. However, treatment may help relieve symptoms and slow the progress of the disease. + +PH is treated with medicines, procedures, and other therapies. Treatment will depend on what type of PH you have and its severity. (For more information, go to ""Types of Pulmonary Hypertension."") + +Group 1 Pulmonary Arterial Hypertension + +Group 1 pulmonary arterial hypertension (PAH) includes PH that's inherited, that has no known cause, or that's caused by certain drugs or conditions. Treatments for group 1 PAH include medicines and medical procedures. + +Medicines + +Your doctor may prescribe medicines to relax the blood vessels in your lungs and reduce excess cell growth in the blood vessels. As the blood vessels relax, more blood can flow through them. + +Your doctor may prescribe medicines that are taken by mouth, inhaled, or injected. + +Examples of medicines for group 1 PAH include: + +Phosphodiesterase-5 inhibitors, such as sildenafil + +Prostanoids, such as epoprostenol + +Endothelin receptor antagonists, such as bosentan and ambrisentan + +Calcium channel blockers, such as diltiazem + +Your doctor may prescribe one or more of these medicines. To find out which of these medicines works best, you'll likely have an acute vasoreactivity test. This test shows how the pressure in your pulmonary arteries reacts to certain medicines. The test is done during right heart catheterization. + +Medical and Surgical Procedures + +If you have group 1 PAH, your doctor may recommend one or more of the following procedures. + +Atrial septostomy (sep-TOS-toe-me). For this procedure, a thin, flexible tube called a catheter is put into a blood vessel in your leg and threaded to your heart. The tube is then put through the wall that separates your right and left atria (the upper chambers of your heart). This wall is called the septum. + +A tiny balloon on the tip of the tube is inflated. This creates an opening between the atria. This procedure relieves the pressure in the right atria and increases blood flow. Atrial septostomy is rarely done in the United States. + +Lung transplant. A lung transplant is surgery to replace a person's diseased lung with a healthy lung from a deceased donor. This procedure may be used for people who have severe lung disease that's causing PAH. + +Heartlung transplant. A heartlung transplant is surgery in which both the heart and lung are replaced with healthy organs from a deceased donor. + +Group 2 Pulmonary Hypertension + +Conditions that affect the left side of the heart, such as mitral valve disease, can cause group 2 PH. Treating the underlying condition will help treat PH. Treatments may include lifestyle changes, medicines, and surgery. + +Group 3 Pulmonary Hypertension + +Lung diseases, such as COPD (chronic obstructive pulmonary disease) and interstitial lung disease, can cause group 3 PH. Certain sleep disorders, such as sleep apnea, also can cause group 3 PH. + +If you have this type of PH, you may need oxygen therapy. This treatment raises the level of oxygen in your blood. You'll likely get the oxygen through soft, plastic prongs that fit into your nose. Oxygen therapy can be done at home or in a hospital. + +Your doctor also may recommend other treatments if you have an underlying lung disease. + +Group 4 Pulmonary Hypertension + +Blood clots in the lungs or blood clotting disorders can cause group 4 PH. If you have this type of PH, your doctor will likely prescribe blood-thinning medicines. These medicines prevent clots from forming or getting larger. + +Sometimes doctors use surgery to remove scarring in the pulmonary arteries due to old blood clots. + +Group 5 Pulmonary Hypertension + +Various diseases and conditions, such as thyroid disease and sarcoidosis, can cause group 5 PH. An object, such as a tumor, pressing on the pulmonary arteries also can cause group 5 PH. + +Group 5 PH is treated by treating its cause. + +All Types of Pulmonary Hypertension + +Several treatments may be used for all types of PH. These treatments include: + +Diuretics, also called water pills. These medicines help reduce fluid buildup in your body, including swelling in your ankles and feet. + +Blood-thinning medicines. These medicines help prevent blood clots from forming or getting larger. + +Digoxin. This medicine helps the heart beat stronger and pump more blood. Digoxin sometimes is used to control the heart rate if abnormal heart rhythms, such as atrial fibrillation or atrial flutter, occur. + +Oxygen therapy. This treatment raises the level of oxygen in your blood. + +Physical activity. Regular activity may help improve your ability to be active. Talk with your doctor about a physical activity plan that's safe for you. + +Research is ongoing for better PH treatments. These treatments offer hope for the future.",NHLBI,Pulmonary Hypertension +What is (are) Thrombocytopenia ?,"Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets). + +Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that may happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a clot also is called a thrombus. + +Overview + +When your blood has too few platelets, mild to serious bleeding can occur. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding). + +A normal platelet count in adults ranges from 150,000 to 450,000 platelets per microliter of blood. A platelet count of less than 150,000 platelets per microliter is lower than normal. If your blood platelet count falls below normal, you have thrombocytopenia. + +However, the risk for serious bleeding doesn't occur until the count becomes very lowless than 10,000 or 20,000 platelets per microliter. Mild bleeding sometimes occurs when the count is less than 50,000 platelets per microliter. + +Many factors can cause a low platelet count, such as: + +The body's bone marrow doesn't make enough platelets. + +The bone marrow makes enough platelets, but the body destroys them or uses them up. + +The spleen holds on to too many platelets. The spleen is an organ that normally stores about one-third of the body's platelets. It also helps your body fight infection and remove unwanted cell material. + +A combination of the above factors. + +How long thrombocytopenia lasts depends on its cause. It can last from days to years. + +The treatment for this condition also depends on its cause and severity. Mild thrombocytopenia often doesn't require treatment. If the condition causes or puts you at risk for serious bleeding, you may need medicines or blood or platelet transfusions. Rarely, the spleen may need to be removed. + +Outlook + +Thrombocytopenia can be fatal, especially if the bleeding is severe or occurs in the brain. However, the overall outlook for people who have the condition is good, especially if the cause of the low platelet count is found and treated.",NHLBI,Thrombocytopenia +What causes Thrombocytopenia ?,"Many factors can cause thrombocytopenia (a low platelet count). The condition can be inherited or acquired. ""Inherited"" means your parents pass the gene for the condition to you. ""Acquired"" means you aren't born with the condition, but you develop it. Sometimes the cause of thrombocytopenia isn't known. + +In general, a low platelet count occurs because: + +The body's bone marrow doesn't make enough platelets. + +The bone marrow makes enough platelets, but the body destroys them or uses them up. + +The spleen holds on to too many platelets. + +A combination of the above factors also may cause a low platelet count. + +The Bone Marrow Doesn't Make Enough Platelets + +Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. When stem cells are damaged, they don't grow into healthy blood cells. + +Many conditions and factors can damage stem cells. + +Cancer + +Cancer, such as leukemia (lu-KE-me-ah) or lymphoma (lim-FO-ma), can damage the bone marrow and destroy blood stem cells. Cancer treatments, such as radiation and chemotherapy, also destroy the stem cells. + +Aplastic Anemia + +Aplastic anemia is a rare, serious blood disorder in which the bone marrow stops making enough new blood cells. This lowers the number of platelets in your blood. + +Toxic Chemicals + +Exposure to toxic chemicalssuch as pesticides, arsenic, and benzenecan slow the production of platelets. + +Medicines + +Some medicines, such as diuretics and chloramphenicol, can slow the production of platelets. Chloramphenicol (an antibiotic) rarely is used in the United States. + +Common over-the-counter medicines, such as aspirin or ibuprofen, also can affect platelets. + +Alcohol + +Alcohol also slows the production of platelets. A temporary drop in the platelet count is common among heavy drinkers, especially if they're eating foods that are low in iron, vitamin B12, or folate. + +Viruses + +Chickenpox, mumps, rubella, Epstein-Barr virus, or parvovirus can decrease your platelet count for a while. People who have AIDS often develop thrombocytopenia. + +Genetic Conditions + +Some genetic conditions can cause low numbers of platelets in the blood. Examples include Wiskott-Aldrich and May-Hegglin syndromes. + +The Body Destroys Its Own Platelets + +A low platelet count can occur even if the bone marrow makes enough platelets. The body may destroy its own platelets due to autoimmune diseases, certain medicines, infections, surgery, pregnancy, and some conditions that cause too much blood clotting. + +Autoimmune Diseases + +Autoimmune diseases occur if the body's immune system mistakenly attacks healthy cells in the body. If an autoimmune disease destroys the body's platelets, thrombocytopenia can occur. + +One example of this type of autoimmune disease is immune thrombocytopenia (ITP). ITP is a bleeding disorder in which the blood doesn't clot as it should. An autoimmune response is thought to cause most cases of ITP. + +Normally, your immune system helps your body fight off infections and diseases. But if you have ITP, your immune system attacks and destroys its own platelets. Why this happens isn't known. (ITP also may occur if the immune system attacks your bone marrow, which makes platelets.) + +Other autoimmune diseases that destroy platelets include lupus and rheumatoid arthritis. + +Medicines + +A reaction to medicine can confuse your body and cause it to destroy its platelets. Examples of medicines that may cause this to happen include quinine; antibiotics that contain sulfa; and some medicines for seizures, such as Dilantin, vancomycin, and rifampin. (Quinine is a substance often found in tonic water and nutritional health products.) + +Heparin is a medicine commonly used to prevent blood clots. But an immune reaction may trigger the medicine to cause blood clots and thrombocytopenia. This condition is called heparin-induced thrombocytopenia (HIT). HIT rarely occurs outside of a hospital. + +In HIT, the body's immune system attacks a substance formed by heparin and a protein on the surface of the platelets. This attack activates the platelets and they start to form blood clots. + +Blood clots can form deep in the legs (deep vein thrombosis), or they can break loose and travel to the lungs (pulmonary embolism). + +Infection + +A low platelet count can occur after blood poisoning from a widespread bacterial infection. A virus, such as mononucleosis or cytomegalovirus, also can cause a low platelet count. + +Surgery + +Platelets can be destroyed when they pass through man-made heart valves, blood vessel grafts, or machines and tubing used for blood transfusions or bypass surgery. + +Pregnancy + +About 5 percent of pregnant women develop mild thrombocytopenia when they're close to delivery. The exact cause isn't known for sure. + +Rare and Serious Conditions That Cause Blood Clots + +Some rare and serious conditions can cause a low platelet count. Two examples are thrombotic thrombocytopenic purpura (TTP) and disseminated intravascular coagulation (DIC). + +TTP is a rare blood condition. It causes blood clots to form in the body's small blood vessels, including vessels in the brains, kidneys, and heart. + +DIC is a rare complication of pregnancy, severe infections, or severe trauma. Tiny blood clots form suddenly throughout the body. + +In both conditions, the blood clots use up many of the blood's platelets. + +The Spleen Holds On to Too Many Platelets + +Usually, one-third of the body's platelets are held in the spleen. If the spleen is enlarged, it will hold on to too many platelets. This means that not enough platelets will circulate in the blood. + +An enlarged spleen often is due to cancer or severe liver disease, such as cirrhosis (sir-RO-sis). Cirrhosis is a disease in which the liver is scarred. This prevents it from working well. + +An enlarged spleen also might be due to a bone marrow condition, such as myelofibrosis (MI-eh-lo-fi-BRO-sis). With this condition, the bone marrow is scarred and isn't able to make blood cells.",NHLBI,Thrombocytopenia +Who is at risk for Thrombocytopenia? ?,"People who are at highest risk for thrombocytopenia are those affected by one of the conditions or factors discussed in ""What Causes Thrombocytopenia?"" This includes people who: + +Have certain types of cancer, aplastic anemia, or autoimmune diseases + +Are exposed to certain toxic chemicals + +Have a reaction to certain medicines + +Have certain viruses + +Have certain genetic conditions + +People at highest risk also include heavy alcohol drinkers and pregnant women.",NHLBI,Thrombocytopenia +What are the symptoms of Thrombocytopenia ?,"Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding). + +Signs and symptoms can appear suddenly or over time. Mild thrombocytopenia often has no signs or symptoms. Many times, it's found during a routine blood test. + +Check with your doctor if you have any signs of bleeding. Severe thrombocytopenia can cause bleeding in almost any part of the body. Bleeding can lead to a medical emergency and should be treated right away. + +External bleeding usually is the first sign of a low platelet count. External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin. + +Purpura and Petechiae + + + +Other signs of external bleeding include: + +Prolonged bleeding, even from minor cuts + +Bleeding or oozing from the mouth or nose, especially nosebleeds or bleeding from brushing your teeth + +Abnormal vaginal bleeding (especially heavy menstrual flow) + +A lot of bleeding after surgery or dental work also might suggest a bleeding problem. + +Heavy bleeding into the intestines or the brain (internal bleeding) is serious and can be fatal. Signs and symptoms include: + +Blood in the urine or stool or bleeding from the rectum. Blood in the stool can appear as red blood or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.) + +Headaches and other neurological symptoms. These problems are very rare, but you should discuss them with your doctor.",NHLBI,Thrombocytopenia +How to diagnose Thrombocytopenia ?,"Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions. + +Once thrombocytopenia is diagnosed, your doctor will begin looking for its cause. + +Medical History + +Your doctor may ask about factors that can affect your platelets, such as: + +The medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products. + +Your general eating habits, including the amount of alcohol you normally drink. + +Your risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work. + +Any family history of low platelet counts. + +Physical Exam + +Your doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever. + +Diagnostic Tests + +Your doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article. + +Complete Blood Count + +A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. + +If you have thrombocytopenia, the results of this test will show that your platelet count is low. + +Blood Smear + +A blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. + +Bone Marrow Tests + +Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy. + +Bone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells. + +A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow. + +Other Tests + +If a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly. + +Your doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged.",NHLBI,Thrombocytopenia +What are the treatments for Thrombocytopenia ?,"Treatment for thrombocytopenia depends on its cause and severity. The main goal of treatment is to prevent death and disability caused by bleeding. + +If your condition is mild, you may not need treatment. A fully normal platelet count isn't necessary to prevent bleeding, even with severe cuts or accidents. + +Thrombocytopenia often improves when its underlying cause is treated. People who inherit the condition usually don't need treatment. + +If a reaction to a medicine is causing a low platelet count, your doctor may prescribe another medicine. Most people recover after the initial medicine has been stopped. For heparin-induced thrombocytopenia (HIT), stopping the heparin isn't enough. Often, you'll need another medicine to prevent blood clotting. + +If your immune system is causing a low platelet count, your doctor may prescribe medicines to suppress the immune system. + +Severe Thrombocytopenia + +If your thrombocytopenia is severe, your doctor may prescribe treatments such as medicines, blood or platelet transfusions, or splenectomy. + +Medicines + +Your doctor may prescribe corticosteroids, also called steroids for short. Steroids may slow platelet destruction. These medicines can be given through a vein or by mouth. One example of this type of medicine is prednisone. + +The steroids used to treat thrombocytopenia are different from illegal steroids taken by some athletes to enhance performance. + +Your doctor may prescribe immunoglobulins or medicines like rituximab to block your immune system. These medicines are given through a vein. He or she also may prescribe other medicines, such as eltrombopag or romiplostim, to help your body make more platelets. The former comes as a tablet to take by mouth and the latter is given as an injection under the skin. + +Blood or Platelet Transfusions + +Blood or platelet transfusions are used to treat people who have active bleeding or are at a high risk of bleeding. During this procedure, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood or platelets. + +For more information about this procedure, go to the Health Topics Blood Transfusion article. + +Splenectomy + +A splenectomy is surgery to remove the spleen. This surgery may be used if treatment with medicines doesn't work. This surgery mostly is used for adults who have immune thrombocytopenia (ITP). However, medicines often are the first course of treatment.",NHLBI,Thrombocytopenia +How to prevent Thrombocytopenia ?,"Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example: + +Avoid heavy drinking. Alcohol slows the production of platelets. + +Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets. + +Avoid medicines that you know have decreased your platelet count in the past. + +Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much. + +Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.",NHLBI,Thrombocytopenia +What is (are) Peripheral Artery Disease ?,"Peripheral artery disease (P.A.D.) is a disease in which plaque builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood. + +When plaque builds up in the body's arteries, the condition is called atherosclerosis. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body. + +P.A.D. usually affects the arteries in the legs, but it also can affect the arteries that carry blood from your heart to your head, arms, kidneys, and stomach. This article focuses on P.A.D. that affects blood flow to the legs. + +Normal Artery and Artery With Plaque Buildup + + + +Overview + +Blocked blood flow to your legs can cause pain and numbness. It also can raise your risk of getting an infection in the affected limbs. Your body may have a hard time fighting the infection. + +If severe enough, blocked blood flow can cause gangrene (tissue death). In very serious cases, this can lead to leg amputation. + +If you have leg pain when you walk or climb stairs, talk with your doctor. Sometimes older people think that leg pain is just a symptom of aging. However, the cause of the pain could be P.A.D. Tell your doctor if you're feeling pain in your legs and discuss whether you should be tested for P.A.D. + +Smoking is the main risk factor for P.A.D. If you smoke or have a history of smoking, your risk of P.A.D. increases. Other factors, such as age and having certain diseases or conditions, also increase your risk of P.A.D. + +Outlook + +P.A.D. increases your risk of coronary heart disease, heart attack, stroke, and transient ischemic attack(""mini-stroke"").Although P.A.D. is serious, it's treatable. If you have the disease, see your doctor regularly and treat the underlying atherosclerosis.P.A.D. treatment may slow or stop disease progress and reduce the risk of complications. Treatments include lifestyle changes, medicines, and surgery or procedures. Researchers continue to explore new therapies for P.A.D.",NHLBI,Peripheral Artery Disease +What causes Peripheral Artery Disease ?,"The most common cause of peripheral arterydisease (P.A.D.) is atherosclerosis. Atherosclerosis is a disease in which plaque builds up in your arteries. The exact cause of atherosclerosis isn't known. + +The disease may start if certain factors damage the inner layers of the arteries. These factors include: + +Smoking + +High amounts of certain fats and cholesterol in the blood + +High blood pressure + +High amounts of sugar in the blood due to insulin resistance or diabetes + +When damage occurs, your body starts a healing process. The healing may cause plaque to build up where the arteries are damaged. + +Eventually, a section of plaque can rupture (break open), causing a blood clot to form at the site. The buildup of plaque or blood clots can severely narrow or block the arteries and limit the flow of oxygen-rich blood to your body.",NHLBI,Peripheral Artery Disease +Who is at risk for Peripheral Artery Disease? ?,"Peripheral artery disease (P.A.D.) affects millions of people in the United States. The disease is more common in blacks than any other racial or ethnic group.The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. + +Smoking + +Smoking is the main risk factor for P.A.D. and your risk increases if you smoke or have a history of smoking. Quitting smoking slows the progress of P.A.D. People who smoke and people who have diabetes are at highest risk for P.A.D. complications, such as gangrene (tissue death) in the leg from decreased blood flow. + +Older Age + +Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age.Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk for P.A.D. + +Diseases and Conditions + +Many diseases and conditions can raise your risk of P.A.D., including: + +Diabetes + +High blood pressure + +High blood cholesterol + +Coronary heart disease + +Stroke + +Metabolic syndrome",NHLBI,Peripheral Artery Disease +What are the symptoms of Peripheral Artery Disease ?,"Many people who have peripheral artery disease (P.A.D.) dont have any signs or symptoms. + +Even if you don't have signs or symptoms, ask your doctor whether you should get checked for P.A.D. if you're: + +Aged 70 or older + +Aged 50 or older and have a history of smoking or diabetes + +Younger than 50 and have diabetes and one or more risk factors for atherosclerosis + +Intermittent Claudication + +People who have P.A.D. may have symptoms when walking or climbing stairs, which may include pain, numbness, aching, or heaviness in the leg muscles.Symptoms also may include cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. Symptoms may ease after resting.These symptoms are called intermittent claudication. + +During physical activity, your muscles need increased blood flow. If your blood vessels are narrowed or blocked, your muscles won't get enough blood, which will lead to symptoms. When resting, the muscles need less blood flow, so the symptoms will go away. + +Other Signs and Symptoms + +Other signs and symptoms of P.A.D. include: + +Weak or absent pulses in the legs or feet + +Sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all + +A pale or bluish color to the skin + +A lower temperature in one leg compared to the other leg + +Poor nail growth on the toes and decreased hair growth on the legs + +Erectile dysfunction, especially among men who have diabetes",NHLBI,Peripheral Artery Disease +How to diagnose Peripheral Artery Disease ?,"Peripheral artery disease (P.A.D.) is diagnosed based on your medical and family histories, a physical exam, and test results. + +P.A.D. often is diagnosed after symptoms are reported. A correct diagnosis is important because people who have P.A.D. are at higher risk for coronary heart disease (CHD), heart attack, stroke, and transient ischemic attack (""mini-stroke""). If you have P.A.D., your doctor also may want to check for signs of these diseases and conditions. + +Specialists Involved + +Primary care doctors, such as internists and family doctors, may treat people who have mild P.A.D. For more advanced P.A.D., a vascular specialist may be involved. This is a doctor who specializes in treating blood vessel diseases and conditions. + +A cardiologist also may be involved in treating people who have P.A.D. Cardiologists treat heart problems, such as CHD and heart attack, which often affect people who have P.A.D. + +Medical and Family Histories + +Your doctor may ask: + +Whether you have any risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes. + +About your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing. + +About your diet. + +About any medicines you take, including prescription and over-the-counter medicines. + +Whether anyone in your family has a history of heart or blood vessel diseases. + +Physical Exam + +During the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses. + +Your doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit. He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery. + +Your doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she also may check for poor wound healing or any changes in your hair, skin, or nails that may be signs of P.A.D. + +Diagnostic Tests + +Ankle-Brachial Index + +A simple test called an ankle-brachial index (ABI) often is used to diagnose P.A.D. The ABI compares blood pressure in your ankle to blood pressure in your arm. This test shows how well blood is flowing in your limbs. + +ABI can show whether P.A.D. is affecting your limbs, but it won't show which blood vessels are narrowed or blocked. + +A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. + +Ankle-Brachial Index + + + +Doppler Ultrasound + +A Doppler ultrasound looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. + +The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. + +Treadmill Test + +A treadmill test can show the severity of symptoms and the level of exercise that brings them on. You'll walk on a treadmill for this test. This shows whether you have any problems during normal walking. + +You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. + +Magnetic Resonance Angiogram + +A magnetic resonance angiogram (MRA) uses magnetic and radio wave energy to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). + +An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. + +Arteriogram + +An arteriogram provides a ""road map"" of the arteries. Doctors use this test to find the exact location of a blocked artery. + +For this test, dye is injected through a needle or catheter (tube) into one of your arteries. This may make you feel mildly flushed. After the dye is injected, an x ray is taken. The xray can show the location, type, and extent of the blockage in the artery. + +Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. + +Blood Tests + +Your doctor may recommend blood tests to check for P.A.D. risk factors. For example, blood tests can help diagnose conditions such as diabetes and high blood cholesterol.",NHLBI,Peripheral Artery Disease +What are the treatments for Peripheral Artery Disease ?,"Treatments for peripheral artery disease (P.A.D.) include lifestyle changes, medicines, and surgery or procedures. + +The overall goals of treating P.A.D. include reducing risk of heart attack and stroke; reducing symptoms of claudication; improving mobility and overall quality of life; and preventing complications. Treatment is based on your signs and symptoms, risk factors, and the results of physical exams and tests. + + + +Treatment may slow or stop the progression of the disease and reduce the risk of complications. Without treatment, P.A.D. may progress, resulting in serious tissue damage in the form of sores or gangrene (tissue death) due to inadequate blood flow. In extreme cases of P.A.D., also referred to as critical limb ischemia (CLI), removal (amputation) of part of the leg or foot may be necessary. + + + + + +Lifestyle Changes + +Treatment often includes making long-lasting lifestyle changes, such as: + +Physical activity + +Quitting smoking + +Heart-healthy eating + + + +Physical Activity + +Routine physical activity can improve P.A.D. symptoms and lower many risk factors for atherosclerosis, including LDL (bad) cholesterol, high blood pressure, and excess weight. Exercise can improve the distances you can comfortably walk. + +Talk with your doctor about taking part in a supervised exercise program. If a supervised program is not an option, ask your doctor to help you develop an exercise plan. Most exercise programs begin slowly, which includes simple walking alternating with rest. Over time, most people build up the amount of time they can walk before developing pain. The more active you are, the more you will benefit. + + + + + +Quitting Smoking + +If you smoke, quit. Smoking raises your risk for P.A.D. Smoking also raises your risk for other diseases, such as coronary heart disease and heart attack, and worsens other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhandsmoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + + + +Read more about quitting smoking at Smoking and Your Heart. + + + + + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating to treat atherosclerosis, the most common cause of P.A.D. Following heart-healthy eating can help control blood pressure and cholesterol levels, which can lead to atherosclerosis. + + + +Medicines + +Your doctor may prescribe medicines to: + +Prevent blood clots from forming due to low blood flow with anticlotting medicines, such as aspirin. + +Treat unhealthy cholesterol levels with statins. Statins control or lower blood cholesterol. By lowering your blood cholesterol level, you can decrease your chance of developing complications from P.A.D. + +Treat high blood pressure with one of many high blood pressure medicines. + +Help ease leg pain that occurs when you walk or climb stairs. + +Reduce the symptoms of intermittent claudication, measured by increased walking distance with certain platelet-aggregation inhibitors. + + + +Surgery or Procedures + +Bypass Grafting + +Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. For this surgery, your doctor uses a blood vessel from another part of your body or a synthetic tube to make a graft. + +This graft bypasses (that is, goes around) the blocked part of the artery. The bypass allows blood to flow around the blockage. This surgery doesnt cure P.A.D., but it may increase blood flow to the affected limb. + + + +Angioplasty and Stent Placement + +Your doctor may recommend angioplasty to restore blood flow through a narrowed or blockedartery. + +During this procedure, a catheter (thin tube) with a balloon at the tip is inserted into a blocked artery. The balloon is then inflated, which pushes plaque outward against the artery wall. This widens the artery and restores blood flow. + + + +A stent (a small mesh tube) may be placed in the artery during angioplasty. A stent helps keep the artery open after angioplasty is done. Some stents are coated with medicine to help prevent blockages in the artery. + + + +Atherectomy + +Atherectomy is a procedure that removes plaque buildup from an artery. During the procedure, a catheter is used to insert a small cutting device into the blocked artery. The device is used to shave or cut off plaque. + +The bits of plaque are removed from the body through the catheter or washed away in the bloodstream (if theyre small enough). + + + +Doctors also can perform atherectomy using a special laser that dissolves the blockage. + + + +Other Types of Treatment + +Researchers are studying cell and gene therapies to treat P.A.D. However, these treatments arent yet available outside of clinical trials. Read more about clinicaltrials.",NHLBI,Peripheral Artery Disease +How to prevent Peripheral Artery Disease ?,"Taking action to control your risk factors can help prevent or delay peripheral artery disease (P.A.D.) and its complications. Know your family history of health problems related to P.A.D. If you or someone in your family has the disease, be sure to tell your doctor. Controlling risk factors includes the following. + +Be physically active. + +Be screened for P.A.D. A simple office test, called an ankle-brachial index or ABI, can help determine whether you have P.A.D. + +Follow heart-healthy eating. + +If you smoke, quit. Talk with your doctor about programs and products that can help you quitsmoking. + +If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. + +The lifestyle changes described above can reduce your risk of developing P.A.D. These changes also can help prevent and control conditions that can be associated with P.A.D., such as coronary heart disease, diabetes, high blood pressure, high blood cholesterol, andstroke.",NHLBI,Peripheral Artery Disease +Who is at risk for Smoking and Your Heart? ?,"The chemicals in tobacco smoke harm your heart and blood vessels in many ways. For example, they: + +Contribute to inflammation, which may trigger plaque buildup in your arteries. + +Damage blood vessel walls, making them stiff and less elastic (stretchy). This damage narrows the blood vessels and contributes to the damage caused by unhealthy cholesterol levels. + +Disturb normal heart rhythms. + +Increase your blood pressure and heart rate, making your heart work harder thannormal. + +Lower your HDL (good) cholesterol and raise your LDL (bad) cholesterol. Smoking also increases your triglyceride level. Triglycerides are a type of fat found in theblood. + +Thicken your blood and make it harder for your blood to carry oxygen. + +Smoking and Heart Disease Risk + +Smoking is a major risk factor for coronary heart disease, a condition in which plaque builds up inside the coronary arteries. These arteries supply your heart muscle with oxygen-rich blood. + +When plaque builds up in the arteries, the condition is called atherosclerosis. + +Plaque narrows the arteries and reduces blood flow to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. + +Over time, smoking contributes to atherosclerosis and increases your risk of having and dying from heart disease, heart failure, or a heartattack. + +Compared with nonsmokers, people who smoke are more likely to have heart disease and suffer from a heart attack. The risk of having or dying from a heart attack is even higher among people who smoke and already have heart disease. + +For some people, such as women who use birth control pills and people who have diabetes, smoking poses an even greater risk to the heart and blood vessels. + +Smoking is a major risk factor for heart disease. When combined with other risk factorssuch as unhealthy blood cholesterol levels, high blood pressure, and overweight or obesitysmoking further raises the risk of heart disease. + +Smoking and the Risk of Peripheral Artery Disease + +Peripheral artery disease (P.A.D.) is a disease in which plaque builds up in the arteries that carry blood to your head, organs, and limbs. Smoking is a major risk factor for P.A.D. + +P.A.D. usually affects the arteries that carry blood to your legs. Blocked blood flow in the leg arteries can cause cramping, pain, weakness, and numbness in your hips, thighs, and calf muscles. + +Blocked blood flow also can raise your risk of getting an infection in the affected limb. Your body might have a hard time fighting the infection. + +If severe enough, blocked blood flow can cause gangrene (tissue death). In very serious cases, this can lead to leg amputation. + +If you have P.A.D., your risk of heart disease and heart attack is higher than the risk for people who dont have P.A.D. + +Smoking even one or two cigarettes a day can interfere with P.A.D. treatments. People who smoke and people who have diabetes are at highest risk for P.A.D. complications, including gangrene in the leg from decreased blood flow. + +Secondhand Smoke Risks + +Secondhand smoke is the smoke that comes from the burning end of a cigarette, cigar, or pipe. Secondhand smoke also refers to smoke thats breathed out by a person who is smoking. + +Secondhand smoke contains many of the same harmful chemicals that people inhale when they smoke. It can damage the heart and blood vessels of people who dont smoke in the same way that active smoking harms people who do smoke. Secondhand smoke greatly increases adults risk of heart attack and death. + +Secondhand smoke also raises the risk of future coronary heart disease in children and teens because it: + +Damages heart tissues + +Lowers HDL cholesterol + +Raises blood pressure + +The risks of secondhand smoke are especially high for premature babies who have respiratory distress syndrome and children who have conditions such asasthma. + +Cigar and Pipe Smoke Risks + +Researchers know less about how cigar and pipe smoke affects the heart and blood vessels than they do about cigarette smoke. + +However, the smoke from cigars and pipes contains the same harmful chemicals as the smoke from cigarettes. Also, studies have shown that people who smoke cigars are at increased risk of heart disease.",NHLBI,Smoking and Your Heart +What is (are) Angina ?,"Espaol + +Angina (an-JI-nuh or AN-juh-nuh) is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. + +Angina may feel like pressure or squeezing in your chest. The pain also can occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. + +Angina isn't a disease; it's a symptom of an underlying heart problem. Angina usually is a symptom of coronary heart disease (CHD). + +CHD is the most common type of heart disease in adults. It occurs if a waxy substance called plaque (plak) builds up on the inner walls of your coronary arteries. These arteries carry oxygen-rich blood to your heart. + +Plaque Buildup in an Artery + + + +Plaque narrows and stiffens the coronary arteries. This reduces the flow of oxygen-rich blood to the heart muscle, causing chest pain. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow, which can cause a heart attack. + +Angina also can be a symptom of coronary microvascular disease (MVD). This is heart disease that affects the hearts smallest coronary arteries. In coronary MVD, plaque doesn't create blockages in the arteries like it does in CHD. + +Studies have shown that coronary MVD is more likely to affect women than men. Coronary MVD also is called cardiac syndrome X and nonobstructive CHD. + +Types of Angina + +The major types of angina are stable, unstable, variant (Prinzmetal's), and microvascular. Knowing how the types differ is important. This is because they have different symptoms and require different treatments. + +Stable Angina + +Stable angina is the most common type of angina. It occurs when the heart is working harder than usual. Stable angina has a regular pattern. (Pattern refers to how often the angina occurs, how severe it is, and what factors trigger it.) + +If you have stable angina, you can learn its pattern and predict when the pain will occur. The pain usually goes away a few minutes after you rest or take your angina medicine. + +Stable angina isn't a heart attack, but it suggests that a heart attack is more likely to happen in the future. + +Unstable Angina + +Unstable angina doesn't follow a pattern. It may occur more often and be more severe than stable angina. Unstable angina also can occur with or without physical exertion, and rest or medicine may not relieve the pain. + +Unstable angina is very dangerous and requires emergency treatment. This type of angina is a sign that a heart attack may happen soon. + +Variant (Prinzmetal's) Angina + +Variant angina is rare. A spasm in a coronary artery causes this type of angina. Variant angina usually occurs while you're at rest, and the pain can be severe. It usually happens between midnight and early morning. Medicine can relieve this type of angina. + +Microvascular Angina + +Microvascular angina can be more severe and last longer than other types of angina. Medicine may not relieve this type of angina. + +Overview + +Experts believe that nearly 7 million people in the United States suffer from angina. The condition occurs equally among men and women. + +Angina can be a sign of CHD, even if initial tests don't point to the disease. However, not all chest pain or discomfort is a sign of CHD. + +Other conditions also can cause chest pain, such as: + +Pulmonary embolism (a blockage in a lung artery) + +A lung infection + +Aortic dissection (tearing of a major artery) + +Aortic stenosis (narrowing of the hearts aortic valve) + +Hypertrophic cardiomyopathy (KAR-de-o-mi-OP-ah-thee; heart muscle disease) + +Pericarditis (inflammation in the tissues that surround the heart) + +A panic attack + +All chest pain should be checked by a doctor.",NHLBI,Angina +What causes Angina ?,"Underlying Causes + +Angina usually is a symptom of coronary heart disease (CHD). This means that the underlying causes of angina generally are the same as the underlying causes of CHD. + +Research suggests that CHD starts when certain factors damage the inner layers of the coronary arteries. These factors include: + +Smoking + +High amounts of certain fats and cholesterol in the blood + +High blood pressure + +High amounts of sugar in the blood due to insulin resistance or diabetes + +Plaque may begin to build up where the arteries are damaged. When plaque builds up in the arteries, the condition is called atherosclerosis (ath-er-o-skler-O-sis). + +Plaque narrows or blocks the arteries, reducing blood flow to the heart muscle. Some plaque is hard and stable and causes the arteries to become narrow and stiff. This can greatly reduce blood flow to the heart and cause angina. + +Other plaque is soft and more likely to rupture (break open) and cause blood clots. Blood clots can partially or totally block the coronary arteries and cause angina or a heart attack. + +Immediate Causes + +Many factors can trigger angina pain, depending on the type of angina you have. + +Stable Angina + +Physical exertion is the most common trigger of stable angina. Severely narrowed arteries may allow enough blood to reach the heart when the demand for oxygen is low, such as when you're sitting. + +However, with physical exertionlike walking up a hill or climbing stairsthe heart works harder and needs more oxygen. + +Other triggers of stable angina include: + +Emotional stress + +Exposure to very hot or cold temperatures + +Heavy meals + +Smoking + +Unstable Angina + +Blood clots that partially or totally block an artery cause unstable angina. + +If plaque in an artery ruptures, blood clots may form. This creates a blockage. A clot may grow large enough to completely block the artery and cause a heart attack. For more information, go to the animation in ""What Causes a Heart Attack?"" + +Blood clots may form, partially dissolve, and later form again. Angina can occur each time a clot blocks an artery. + +Variant Angina + +A spasm in a coronary artery causes variant angina. The spasm causes the walls of the artery to tighten and narrow. Blood flow to the heart slows or stops. Variant angina can occur in people who have CHD and in those who dont. + +The coronary arteries can spasm as a result of: + +Exposure to cold + +Emotional stress + +Medicines that tighten or narrow blood vessels + +Smoking + +Cocaine use + +Microvascular Angina + +This type of angina may be a symptom of coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the hearts smallest coronary arteries. + +Reduced blood flow in the small coronary arteries may cause microvascular angina. Plaque in the arteries, artery spasms, or damaged or diseased artery walls can reduce blood flow through the small coronary arteries.",NHLBI,Angina +Who is at risk for Angina? ?,"Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina. + +The major risk factors for CHD and coronary MVD include: + +Unhealthy cholesterol levels. + +High blood pressure. + +Smoking. + +Insulin resistance or diabetes. + +Overweight or obesity. + +Metabolic syndrome. + +Lack of physical activity. + +Unhealthy diet. + +Older age. (The risk increases for men after 45 years of age and for women after 55 years of age.) + +Family history of early heart disease. + +For more detailed information about CHD and coronary MVD risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles. + +People sometimes think that because men have more heart attacks than women, men also suffer from angina more often. In fact, overall, angina occurs equally among men and women. + +Microvascular angina, however, occurs more often in women. About 70 percent of the cases of microvascular angina occur in women around the time of menopause. + +Unstable angina occurs more often in older adults. Variant angina is rare; it accounts for only about 2 out of 100 cases of angina. People who have variant angina often are younger than those who have other forms of angina.",NHLBI,Angina +What are the symptoms of Angina ?,"Pain and discomfort are the main symptoms of angina. Angina often is described as pressure, squeezing, burning, or tightness in the chest. The pain or discomfort usually starts behind the breastbone. + +Pain from angina also can occur in the arms, shoulders, neck, jaw, throat, or back. The pain may feel like indigestion. Some people say that angina pain is hard to describe or that they can't tell exactly where the pain is coming from. + +Signs and symptoms such as nausea (feeling sick to your stomach), fatigue (tiredness), shortness of breath, sweating, light-headedness, and weakness also may occur. + +Women are more likely to feel discomfort in the neck, jaw, throat, abdomen, or back. Shortness of breath is more common in older people and those who have diabetes. Weakness, dizziness, and confusion can mask the signs and symptoms of angina in elderly people. + +Symptoms also vary based on the type of angina you have. + +Because angina has so many possible symptoms and causes, all chest pain should be checked by a doctor. Chest pain that lasts longer than a few minutes and isn't relieved by rest or angina medicine may be a sign of a heart attack. Call 911 right away. + +Stable Angina + +The pain or discomfort: + +Occurs when the heart must work harder, usually during physical exertion + +Doesn't come as a surprise, and episodes of pain tend to be alike + +Usually lasts a short time (5 minutes or less) + +Is relieved by rest or medicine + +May feel like gas or indigestion + +May feel like chest pain that spreads to the arms, back, or other areas + +Unstable Angina + +The pain or discomfort: + +Often occurs at rest, while sleeping at night, or with little physical exertion + +Comes as a surprise + +Is more severe and lasts longer than stable angina (as long as 30 minutes) + +Usually isnt relieved by rest or medicine + +May get worse over time + +May mean that a heart attack will happen soon + +Variant Angina + +The pain or discomfort: + +Usually occurs at rest and during the night or early morning hours + +Tends to be severe + +Is relieved by medicine + +Microvascular Angina + +The pain or discomfort: + +May be more severe and last longer than other types of angina pain + +May occur with shortness of breath, sleep problems, fatigue, and lack of energy + +Often is first noticed during routine daily activities and times of mental stress",NHLBI,Angina +How to diagnose Angina ?,"The most important issues to address when you go to the doctor with chest pain are: + +What's causing the chest pain + +Whether you're having or are about to have a heart attack + +Angina is a symptom of an underlying heart problem, usually coronary heart disease (CHD). The type of angina pain you have can be a sign of how severe the CHD is and whether it's likely to cause a heart attack. + +If you have chest pain, your doctor will want to find out whether it's angina. He or she also will want to know whether the angina is stable or unstable. If it's unstable, you may need emergency medical treatment to try to prevent a heart attack. + +To diagnose chest pain as stable or unstable angina, your doctor will do a physical exam, ask about your symptoms, and ask about your risk factors for and your family history of CHD or other heart diseases. + +Your doctor also may ask questions about your symptoms, such as: + +What brings on the pain or discomfort and what relieves it? + +What does the pain or discomfort feel like (for example, heaviness or tightness)? + +How often does the pain occur? + +Where do you feel the pain or discomfort? + +How severe is the pain or discomfort? + +How long does the pain or discomfort last? + +Diagnostic Tests and Procedures + +If your doctor thinks that you have unstable angina or that your angina is related to a serious heart condition, he or she may recommend one or more tests. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the hearts electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. However, some people who have angina have normal EKGs. + +Stress Testing + +During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you cant exercise, you may be given medicine to make your heart work hard and beat fast. + +When your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs. + +A stress test can show possible signs and symptoms of CHD, such as: + +Abnormal changes in your heart rate or blood pressure + +Shortness of breath or chest pain + +Abnormal changes in your heart rhythm or your heart's electrical activity + +As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in various parts of your heart. They also can show how well your heart pumps blood when it beats. + +Chest X Ray + +A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. + +A chest x ray can reveal signs of heart failure. It also can show signs of lung disorders and other causes of symptoms not related to CHD. However, a chest x ray alone is not enough to diagnose angina or CHD. + +Coronary Angiography and Cardiac Catheterization + +Your doctor may recommend coronary angiography (an-jee-OG-ra-fee) if he or she suspects you have CHD. This test uses dye and special x rays to show the inside of your coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. + +Cardiac catheterization usually is done in a hospital. You're awake during the procedure. It usually causes little or no pain, although you may feel some soreness in the blood vessel where your doctor inserts the catheter. + +Computed Tomography Angiography + +Computed tomography (to-MOG-rah-fee) angiography (CTA) uses dye and special x rays to show blood flow through the coronary arteries. This test is less invasive than coronary angiography with cardiac catheterization. + +For CTA, a needle connected to an intravenous (IV) line is put into a vein in your hand or arm. Dye is injected through the IV line during the scan. You may have a warm feeling when this happens. The dye highlights your blood vessels on the CT scan pictures. + +Sticky patches called electrodes are put on your chest. The patches are attached to an EKG machine to record your heart's electrical activity during the scan. + +The CT scanner is a large machine that has a hollow, circular tube in the middle. You lie on your back on a sliding table. The table slowly slides into the opening of the machine. + +Inside the scanner, an x-ray tube moves around your body to take pictures of different parts of your heart. A computer puts the pictures together to make a three-dimensional (3D) picture of the whole heart. + +Blood Tests + +Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels may show that you have risk factors for CHD. + +Your doctor may recommend a blood test to check the level of a protein called C-reactive protein (CRP) in your blood. Some studies suggest that high levels of CRP in the blood may increase the risk for CHD and heart attack. + +Your doctor also may recommend a blood test to check for low levels of hemoglobin (HEE-muh-glow-bin) in your blood. Hemoglobin is an iron-rich protein in red blood cells. It helps the blood cells carry oxygen from the lungs to all parts of your body. If your hemoglobin level is low, you may have a condition called anemia (uh-NEE-me-uh).",NHLBI,Angina +What are the treatments for Angina ?,"Treatments for angina include lifestyle changes, medicines, medical procedures, cardiac rehabilitation (rehab), and other therapies. The main goals of treatment are to: + +Reduce pain and discomfort and how often it occurs + +Prevent or lower your risk for heart attack and death by treating your underlying heart condition + +Lifestyle changes and medicines may be the only treatments needed if your symptoms are mild and aren't getting worse. If lifestyle changes and medicines don't control angina, you may need medical procedures or cardiac rehab. + +Unstable angina is an emergency condition that requires treatment in a hospital. + +Lifestyle Changes + +Making lifestyle changes can help prevent episodes of angina. You can: + +Slow down or take rest breaks if physical exertion triggers angina. + +Avoid large meals and rich foods that leave you feeling stuffed if heavy meals trigger angina. + +Try to avoid situations that make you upset or stressed if emotional stress triggers angina. Learn ways to handle stress that can't be avoided. + +You also can make lifestyle changes that help lower your risk for coronary heart disease. One of the most important changes is to quit smoking. Smoking can damage and tighten blood vessels and raise your risk for CHD. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Diseases and Conditions Index (DCI) Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes (NHLBIs) ""Your Guide to a Healthy Heart."" + +Following a healthy diet is another important lifestyle change. A healthy diet can prevent or reduce high blood pressure and high blood cholesterol and help you maintain a healthy weight. + +A healthy diet includes a variety of fruits and vegetables (including beans and peas). It also includes whole grains, lean meats, poultry without skin, seafood, and fat-free or low-fat milk and dairy products. A healthy diet also is low in sodium (salt), added sugars, solid fats, and refined grains. + +For more information about following a healthy diet, go to the NHLBIs Your Guide to Lowering Your Blood Pressure With DASH and the U.S. Department of Agricultures ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating. + +Other important lifestyle changes include: + +Being physically active. Check with your doctor to find out how much and what kinds of activity are safe for you. For more information, go to the DCI Physical Activity and Your Heart article. + +Maintaining a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors. + +Taking all medicines as your doctor prescribes, especially if you have diabetes. + +Medicines + +Nitrates are the medicines most commonly used to treat angina. They relax and widen blood vessels. This allows more blood to flow to the heart, while reducing the hearts workload. + +Nitroglycerin (NI-tro-GLIS-er-in) is the most commonly used nitrate for angina. Nitroglycerin that dissolves under your tongue or between your cheek and gum is used to relieve angina episodes. + +Nitroglycerin pills and skin patches are used to prevent angina episodes. However, pills and skin patches act too slowly to relieve pain during an angina attack. + +Other medicines also are used to treat angina, such as beta blockers, calcium channel blockers, ACE inhibitors, oral antiplatelet medicines, or anticoagulants (blood thinners). These medicines can help: + +Lower blood pressure and cholesterol levels + +Slow the heart rate + +Relax blood vessels + +Reduce strain on the heart + +Prevent blood clots from forming + +People who have stable angina may be advised to get annual flu shots. + +Medical Procedures + +If lifestyle changes and medicines don't control angina, you may need a medical procedure to treat the underlying heart disease. Both angioplasty (AN-jee-oh-plas-tee) and coronary artery bypass grafting (CABG) are commonly used to treat heart disease. + +Angioplasty opens blocked or narrowed coronary arteries. During angioplasty, a thin tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. + +Once in place, the balloon is inflated to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow. + +Angioplasty can improve blood flow to your heart and relieve chest pain. A small mesh tube called a stent usually is placed in the artery to help keep it open after the procedure. + +During CABG, healthy arteries or veins taken from other areas in your body are used to bypass (that is, go around) your narrowed coronary arteries. Bypass surgery can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack. + +You will work with your doctor to decide which treatment is better for you. + +Cardiac Rehabilitation + +Your doctor may recommend cardiac rehab for angina or after angioplasty, CABG, or a heart attack. Cardiac rehab is a medically supervised program that can help improve the health and well-being of people who have heart problems. + +The cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists. + +Rehab has two parts: + +Exercise training. This part helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests. + +Education, counseling, and training. This part of rehab helps you understand your heart condition and find ways to reduce your risk for future heart problems. The rehab team will help you learn how to adjust to a new lifestyle and deal with your fears about the future. + +For more information about cardiac rehab, go to the DCI Cardiac Rehabilitation article. + +Enhanced External Counterpulsation Therapy + +Enhanced external counterpulsation (EECP) therapy is helpful for some people who have angina. Large cuffs, similar to blood pressure cuffs, are put on your legs. The cuffs are inflated and deflated in sync with your heartbeat. + +EECP therapy improves the flow of oxygen-rich blood to your heart muscle and helps relieve angina. You typically get 35 1-hour treatments over 7 weeks.",NHLBI,Angina +How to prevent Angina ?,"You can prevent or lower your risk for angina and heart disease by making lifestyle changes and treating related conditions. + +Making Lifestyle Changes + +Healthy lifestyle choices can help prevent or delay angina and heart disease. To adopt a healthy lifestyle, you can: + +Quit smoking and avoid secondhand smoke + +Avoid angina triggers + +Follow a healthy diet + +Be physically active + +Maintain a healthy weight + +Learn ways to handle stress and relax + +Take your medicines as your doctor prescribes + +For more information about these lifestyle changes, go to How Is Angina Treated? For more information about preventing and controlling heart disease risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles. + +Treating Related Conditions + +You also can help prevent or delay angina and heart disease by treating related conditions, such as high blood cholesterol, high blood pressure, diabetes, and overweight or obesity. + +If you have one or more of these conditions, talk with your doctor about how to control them. Follow your treatment plan and take all of your medicines as your doctor prescribes.",NHLBI,Angina +What is (are) Heart Failure ?,"Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. In some cases, the heart can't fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. + +The term ""heart failure"" doesn't mean that your heart has stopped or is about to stop working. However, heart failure is a serious condition that requires medical care. + +Overview + +Heart failure develops over time as the heart's pumping action grows weaker. The condition can affect the right side of the heart only, or it can affect both sides of the heart. Most cases involve both sides of the heart. + +Right-side heart failure occurs if the heart can't pump enough blood to the lungs to pick up oxygen. Left-side heart failure occurs if the heart can't pump enough oxygen-rich blood to the rest of the body. + +Right-side heart failure may cause fluid to build up in the feet, ankles, legs, liver, abdomen, and the veins in the neck. Right-side and left-side heart failure also may cause shortness of breath and fatigue (tiredness). + +The leading causes of heart failure are diseases that damage the heart. Examples include coronary heart disease (CHD), high blood pressure, and diabetes. + +Outlook + +Heart failure is a very common condition. About 5.7 million people in the United States have heart failure.Both children and adults can have the condition, although the symptoms and treatments differ. The Health Topicfocuses on heart failure in adults. + +Currently, heart failure has no cure. However, treatmentssuch as medicines and lifestyle changescan help people who have the condition live longer and more active lives. Researchers continue to study new ways to treat heart failure and its complications.",NHLBI,Heart Failure +What causes Heart Failure ?,"Conditions that damage or overwork the heart muscle can cause heart failure. Over time, the heart weakens. It isnt able to fill with and/or pump blood as well as it should. As the heart weakens, certain proteins and substances might be released into the blood. These substances have a toxic effect on the heart and blood flow, and they worsen heart failure. + +Causes of heart failure include: + +Coronary heart disease + +Diabetes + +High blood pressure + +Other heart conditions or diseases + +Other factors + + + +Coronary Heart Disease + +Coronary heart disease is a condition in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. + +Plaque narrows the arteries and reduces blood flow to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. Coronary heart disease can lead to chest pain or discomfort calledangina, aheart attack, and heart damage. + + + +Diabetes + +Diabetes is a disease in which the bodys blood glucose (sugar) level is too high. The body normally breaks down food into glucose and then carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy. + +In diabetes, the body doesnt make enough insulin or doesnt use its insulin properly. Over time, high blood sugar levels can damage and weaken the heart muscle and the blood vessels around the heart, leading to heart failure. + + + +High Blood Pressure + +Blood pressure is the force of blood pushing against the walls of the arteries. If this pressure rises and stays high over time, it can weaken your heart and lead to plaque buildup. + +Blood pressure is considered high if it stays at or above 140/90 mmHg over time. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. + + + +Other Heart Conditions or Diseases + +Other conditions and diseases also can lead to heart failure, such as: + +Arrhythmia. Happens when a problem occurs with the rate or rhythm of the heartbeat. + +Cardiomyopathy.Happens when the heart muscle becomes enlarged, thick, or rigid. + +Congenital heart defects. Problems with the hearts structure are present at birth. + +Heart valve disease. Occurs if one or more of your heart valves doesnt work properly, which can be present at birth or caused by infection, other heart conditions, and age. + + + +Other Factors + +Other factors also can injure the heart muscle and lead to heart failure. Examples include: + +Alcohol abuse or cocaine and other illegal drug use + +HIV/AIDS + +Thyroid disorders (having either too much or too little thyroid hormone in the body) + +Too much vitamin E + +Treatments for cancer, such as radiation and chemotherapy",NHLBI,Heart Failure +Who is at risk for Heart Failure? ?,"About 5.7 million people in the United States have heart failure. The number of people who have this condition is growing. + +Heart failure is more common in: + +People who are age 65 or older. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. Heart failure is a leading cause of hospital stays among people on Medicare. + +Blacks are more likely to have heart failure than people of other races. Theyre also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. + +People who areoverweight. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2diabetes. These diseases can lead to heart failure. + +People who have had a heart attack. Damage to the heart muscle from a heart attack and can weaken the heart muscle. + +Children who havecongenital heart defectsalso can develop heart failure. These defects occur if the heart, heart valves, or blood vessels near the heart dont form correctly while a baby is in the womb. Congenital heart defects can make the heart work harder. This weakens the heart muscle, which can lead to heart failure. Children dont have the same symptoms of heart failure or get the same treatments as adults. This Health Topic focuses on heart failure in adults.",NHLBI,Heart Failure +What are the symptoms of Heart Failure ?,"The most common signs and symptoms of heart failure are: + +Shortness of breath or trouble breathing + +Fatigue (tiredness) + +Swelling in the ankles, feet, legs, abdomen, and veins in the neck + +All of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs. + +As your heart grows weaker, symptoms get worse. You may begin to feel tired and short of breath after getting dressed or walking across the room. Some people have shortness of breath while lying flat. + +Fluid buildup from heart failure also causes weight gain, frequent urination, and a cough that's worse at night and when you're lying down. This cough may be a sign of acute pulmonary edema (e-DE-ma). This is a condition in which too much fluid builds up in your lungs. The condition requires emergency treatment. + +Heart Failure Signs and Symptoms",NHLBI,Heart Failure +How to diagnose Heart Failure ?,"Your doctor will diagnose heart failure based on your medical and family histories, a physical exam, and test results. The signs and symptoms of heart failure also are common in other conditions. Thus, your doctor will: + +Find out whether you have a disease or condition that can cause heart failure, such as coronary heart disease (CHD), high blood pressure, or diabetes + +Rule out other causes of your symptoms + +Find any damage to your heart and check how well your heart pumps blood + +Early diagnosis and treatment can help people who have heart failure live longer, more active lives. + +Medical and Family Histories + +Your doctor will ask whether you or others in your family have or have had a disease or condition that can cause heart failure. + +Your doctor also will ask about your symptoms. He or she will want to know which symptoms you have, when they occur, how long you've had them, and how severe they are. Your answers will help show whether and how much your symptoms limit your daily routine. + +Physical Exam + +During the physical exam, your doctor will: + +Listen to your heart for sounds that aren't normal + +Listen to your lungs for the sounds of extra fluid buildup + +Look for swelling in your ankles, feet, legs, abdomen, and the veins in your neck + +Diagnostic Tests + +No single test can diagnose heart failure. If you have signs and symptoms of heart failure, your doctor may recommend one or more tests. + +Your doctor also may refer you to a cardiologist. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast your heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart. + +An EKG may show whether the walls in your heart's pumping chambers are thicker than normal. Thicker walls can make it harder for your heart to pump blood. An EKG also can show signs of a previous or current heart attack. + +Chest X Ray + +A chest x raytakes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. This test can show whether your heart is enlarged, you have fluid in your lungs, or you have lung disease. + +BNP Blood Test + +This test checks the level of a hormone in your blood called BNP. The level of this hormone rises during heart failure. + +Echocardiography + +Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test shows the size and shape of your heart and how well your heart chambers and valves work. + +Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and heart muscle damage caused by lack of blood flow. + +Echo might be done before and after a stress test (see below). A stress echo can show how well blood is flowing through your heart. The test also can show how well your heart pumps blood when it beats. + +Doppler Ultrasound + +A Doppler ultrasound uses sound waves to measure the speed and direction of blood flow. This test often is done with echo to give a more complete picture of blood flow to the heart and lungs. + +Doctors often use Doppler ultrasound to help diagnose right-side heart failure. + +Holter Monitor + +A Holter monitor records your heart's electrical activity for a full 24- or 48-hour period, while you go about your normal daily routine. + +You wear small patches called electrodes on your chest. Wires connect the patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck. + +Nuclear Heart Scan + +A nuclear heart scan shows how well blood is flowing through your heart and how much blood is reaching your heart muscle. + +During a nuclear heart scan, a safe, radioactive substance called a tracer is injected into your bloodstream through a vein. The tracer travels to your heart and releases energy. Special cameras outside of your body detect the energy and use it to create pictures of your heart. + +A nuclear heart scan can show where the heart muscle is healthy and where it's damaged. + +A positron emission tomography (PET) scan is a type of nuclear heart scan. It shows the level of chemical activity in areas of your heart. This test can help your doctor see whether enough blood is flowing to these areas. A PET scan can show blood flow problems that other tests might not detect. + +Cardiac Catheterization + +During cardiac catheterization (KATH-eh-ter-ih-ZA-shun), a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. This allows your doctor to look inside your coronary (heart) arteries. + +During this procedure, your doctor can check the pressure and blood flow in your heart chambers, collect blood samples, and use x rays to look at your coronary arteries. + +Coronary Angiography + +Coronary angiography (an-jee-OG-rah-fee) usually is done with cardiac catheterization. A dye that can be seen on x ray is injected into your bloodstream through the tip of the catheter. + +The dye allows your doctor to see the flow of blood to your heart muscle. Angiography also shows how well your heart is pumping. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast. + +You may walk or run on a treadmill or pedal a bicycle. If you can't exercise, you may be given medicine to raise your heart rate. + +Heart tests, such as nuclear heart scanning and echo, often are done during stress testing. + +Cardiac MRI + +Cardiac MRI (magnetic resonance imaging) uses radio waves, magnets, and a computer to create pictures of your heart as it's beating. The test produces both still and moving pictures of your heart and major blood vessels. + +A cardiac MRI can show whether parts of your heart are damaged. Doctors also have used MRI in research studies to find early signs of heart failure, even before symptoms appear. + +Thyroid Function Tests + +Thyroid function tests show how well your thyroid gland is working. These tests include blood tests, imaging tests, and tests to stimulate the thyroid. Having too much or too little thyroid hormone in the blood can lead to heart failure.",NHLBI,Heart Failure +What are the treatments for Heart Failure ?,"Early diagnosis and treatment can help people who have heart failure live longer, more active lives. Treatment for heart failure depends on the type and severity of the heart failure. + +The goals of treatment for all stages of heart failure include: + +Treating the conditions underlying cause, such ascoronary heart disease,high blood pressure, ordiabetes + +Reducing symptoms + +Stopping the heart failure from getting worse + +Increasing your lifespan and improving your quality of life + +Treatments usually include lifestyle changes, medicines, and ongoing care. If you have severe heart failure, you also may need medical procedures or surgery. + +Heart-Healthy Lifestyle Changes + +Your doctor may recommend heart-healthy lifestyle changes if you have heart failure. Heart-healthy lifestyle changes include: + +Heart-healthy eating + +Maintaining a healthy weight + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Your doctor may recommend a heart-healthy eating plan, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +If you eat: + +Try to eat no more than: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterollevels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Liquid Intake + +Its important for people who have heart failure to take in the correct amounts and types of liquids. Consuming too much liquid can worsen heart failure. Also, if you have heart failure, you shouldnt drink alcohol. Talk with your doctor about what amounts and types of liquids you should have each day. + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for heart failure and coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI below 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Physical Activity + +Routine physical activity can lower many coronary heart disease risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen heart failure. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + +Medicines + +Your doctor will prescribe medicines based on the type of heart failure you have, how severe it is, and your response to certain medicines. The following medicines are commonly used to treat heart failure: + +ACE inhibitors lower blood pressure and reduce strain on your heart. They also may reduce the risk of a futureheart attack. + +Aldosterone antagonists trigger the body to remove excess sodium through urine. This lowers the volume of blood that the heart must pump. + +Angiotensin receptor blockers relax your blood vessels and lower blood pressure to decrease your hearts workload. + +Beta blockers slow your heart rate and lower your blood pressure to decrease your hearts workload. + +Digoxin makes the heart beat stronger and pump more blood. + +Diuretics (fluid pills) help reduce fluid buildup in your lungs and swelling in your feet and ankles. + +Isosorbide dinitrate/hydralazine hydrochloride helps relax your blood vessels so your heart doesnt work as hard to pump blood. Studies have shown that this medicine can reduce the risk of death in blacks. More studies are needed to find out whether this medicine will benefit other racial groups. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your heart failure. + +Ongoing Care + +You should watch for signs that heart failure is getting worse. For example, weight gain may mean that fluids are building up in your body. Ask your doctor how often you should check your weight and when to report weight changes. + +Getting medical care for other related conditions is important. If you have diabetes or high blood pressure, work with your health care team to control these conditions. Have your blood sugar level and blood pressure checked. Talk with your doctor about when you should have tests and how often to take measurements at home. + +Try to avoid respiratory infections like the flu andpneumonia. Talk with your doctor or nurse about getting flu and pneumonia vaccines. + +Many people who have severe heart failure may need treatment in a hospital from time to time. Your doctor may recommend oxygen therapy, which can be given in a hospital or at home. + +Medical Procedures and Surgery + +As heart failure worsens, lifestyle changes and medicines may no longer control your symptoms. You may need a medical procedure or surgery. + +In heart failure, the right and left sides of the heart may no longer contract at the same time. This disrupts the hearts pumping. To correct this problem, your doctor might implant a cardiac resynchronization therapy device (a type ofpacemaker) near your heart. This device helps both sides of your heart contract at the same time, which can decrease heart failure symptoms. + +Some people who have heart failure have very rapid, irregular heartbeats. Without treatment, these heartbeats can causesudden cardiac arrest. Your doctor might implant an implantable cardioverter defibrillator (ICD) near your heart to solve this problem. An ICD checks your heart rate and uses electrical pulses to correct irregular heart rhythms. + +People who have severe heart failure symptoms at rest, despite other treatments, may need: + +A mechanical heart pump, such as aleft ventricular assist device. This device helps pump blood from the heart to the rest of the body. You may use a heart pump until you have surgery or as a long-term treatment. + +Heart transplant. A heart transplant is an operation in which a persons diseased heart is replaced with a healthy heart from a deceased donor. Heart transplants are done as a life-saving measure for end-stage heart failure when medical treatment and less drastic surgery have failed.",NHLBI,Heart Failure +How to prevent Heart Failure ?,"You can take steps to prevent heart failure. The sooner you start, the better your chances of preventing or delaying the condition. + +For People Who Have Healthy Hearts + +If you have a healthy heart, you can take action to prevent heart disease and heart failure. To reduce your risk of heart disease: + +Avoid using illegal drugs. + +Be physically active. The more active you are, the more you will benefit. + +Follow a heart-healthy eating plan. + +If yousmoke, make an effort to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +Maintain a healthy weight. Work with your health care team to create a reasonable weight-loss plan. + +For People Who Are at High Risk for Heart Failure + +Even if youre at high risk for heart failure, you can take steps to reduce your risk. People at high risk include those who have coronary heart disease,high blood pressure, ordiabetes. + +Follow all of the steps listed above. Talk with your doctor about what types and amounts of physical activity are safe for you. + +Treat and control any conditions that can cause heart failure. Take medicines as your doctor prescribes. + +Avoid drinking alcohol. + +See your doctor for ongoing care. + +For People Who Have Heart Damage but No Signs of Heart Failure + +If you have heart damage but no signs of heart failure, you can still reduce your risk of developing the condition. In addition to the steps above, take your medicines as prescribed to reduce your hearts workload.",NHLBI,Heart Failure +What is (are) Thrombocythemia and Thrombocytosis ?,"Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets). + +Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells. + +Platelets travel through your blood vessels and stick together (clot). Clotting helps stop any bleeding that may occur if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a blood clot also is called a thrombus. + +A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. + +Overview + +The term ""thrombocythemia"" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. + +This condition occurs if faulty cells in the bone marrow make too many platelets. Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. What causes the bone marrow to make too many platelets often isn't known. + +With primary thrombocythemia, a high platelet count may occur alone or with other blood cell disorders. This condition isn't common. + +When another disease or condition causes a high platelet count, the term ""thrombocytosis"" is preferred. This condition often is called secondary or reactive thrombocytosis. Secondary thrombocytosis is more common than primary thrombocythemia. + +Often, a high platelet count doesn't cause signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms are more likely to occur in people who have primary thrombocythemia. + +Outlook + +People who have primary thrombocythemia with no signs or symptoms don't need treatment, as long as the condition remains stable. + +Other people who have this condition may need medicines or procedures to treat it. Most people who have primary thrombocythemia will live a normal lifespan. + +Treatment and outlook for secondary thrombocytosis depend on its underlying cause.",NHLBI,Thrombocythemia and Thrombocytosis +What causes Thrombocythemia and Thrombocytosis ?,"Primary Thrombocythemia + +In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn't known. When this process occurs without other blood cell disorders, it's called essential thrombocythemia. + +A rare form of thrombocythemia is inherited. (""Inherited"" means the condition is passed from parents to children through the genes.) In some cases, a genetic mutation may cause the condition. + +In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. They may form blood clots or, surprisingly, cause bleeding when they don't work well. + +Bleeding also can occur because of a condition that develops called von Willebrand disease. This condition affects the blood clotting process. + +After many years, scarring of the bone marrow can occur. + +Secondary Thrombocytosis + +This condition occurs if another disease, condition, or outside factor causes the platelet count to rise. For example, 35 percent of people who have high platelet counts also have cancermostly lung, gastrointestinal, breast, ovarian, and lymphoma. Sometimes a high platelet count is the first sign of cancer. + +Other conditions or factors that can cause a high platelet count are: + +Iron-deficiency anemia (uh-NEE-me-uh) + +Hemolytic (HEE-moh-lit-ick) anemia + +Absence of a spleen (after surgery to remove the organ) + +Inflammatory or infectious diseases, such as connective tissue disorders, inflammatory bowel disease, and tuberculosis + +Reactions to medicine + +Some conditions can lead to a high platelet count that lasts for only a short time. Examples of such conditions include: + +Recovery from serious blood loss + +Recovery from a very low platelet count caused by excessive alcohol use and lack of vitamin B12 or folate + +Acute (short-term) infection or inflammation + +Response to physical activity + +Although the platelet count is high in secondary thrombocytosis, the platelets are normal (unlike in primary thrombocythemia). Thus, people who have secondary thrombocytosis have a lower risk of blood clots and bleeding.",NHLBI,Thrombocythemia and Thrombocytosis +Who is at risk for Thrombocythemia and Thrombocytosis? ?,"Primary Thrombocythemia + +Thrombocythemia isn't common. The exact number of people who have the condition isn't known. Some estimates suggest that 24 out of every 100,000 people have primary thrombocythemia. + +Primary thrombocythemia is more common in people aged 50 to 70, but it can occur at any age. For unknown reasons, more women around the age of 30 have primary thrombocythemia than men of the same age. + +Secondary Thrombocytosis + +You might be at risk for secondary thrombocytosis if you have a disease, condition, or factor that can cause it. (For more information, go to ""What Causes Thrombocythemia and Thrombocytosis?"") + +Secondary thrombocytosis is more common than primary thrombocythemia. Studies have shown that most people who have platelet counts over 500,000 have secondary thrombocytosis.",NHLBI,Thrombocythemia and Thrombocytosis +What are the symptoms of Thrombocythemia and Thrombocytosis ?,"People who have thrombocythemia or thrombocytosis may not have signs or symptoms. These conditions might be discovered only after routine blood tests. + +However, people who have primary thrombocythemia are more likely than those who have secondary thrombocytosis to have serious signs and symptoms. + +The signs and symptoms of a high platelet count are linked to blood clots and bleeding. They include weakness, bleeding, headache, dizziness, chest pain, and tingling in the hands and feet. + +Blood Clots + +In primary thrombocythemia, blood clots most often develop in the brain, hands, and feet. But they can develop anywhere in the body, including in the heart and intestines. + +Blood clots in the brain may cause symptoms such as chronic (ongoing) headache and dizziness. In extreme cases, stroke may occur. + +Blood clots in the tiny blood vessels of the hands and feet leave them numb and red. This may lead to an intense burning and throbbing pain felt mainly on the palms of the hands and the soles of the feet. + +Other signs and symptoms of blood clots may include: + +Changes in speech or awareness, ranging from confusion to passing out + +Seizures + +Upper body discomfort in one or both arms, the back, neck, jaw, or abdomen + +Shortness of breath and nausea (feeling sick to your stomach) + +In pregnant women, blood clots in the placenta can cause miscarriage or problems with fetal growth and development. + +Women who have primary thrombocythemia or secondary thrombocytosis and take birth control pills are at increased risk for blood clots. + +Blood clots are related to other conditions and factors as well. Older age, prior blood clots, diabetes, high blood pressure, and smoking also increase your risk for blood clots. + +Bleeding + +If bleeding occurs, it most often affects people who have platelet counts higher than 1million platelets per microliter of blood. Signs of bleeding include nosebleeds, bruising, bleeding from the mouth or gums, or blood in the stools. + +Although bleeding usually is associated with a low platelet count, it also can occur in people who have high platelet counts. Blood clots that develop in thrombocythemia or thrombocytosis may use up your body's platelets. This means that not enough platelets are left in your bloodstream to seal off cuts or breaks on the blood vessel walls. + +Another cause of bleeding in people who have very high platelets counts is a condition called von Willebrand Disease. This condition affects the blood clotting process. + +In rare cases of primary thrombocythemia, the faulty bone marrow cells will cause a form of leukemia (lu-KE-me-ah). Leukemia is a cancer of the blood cells.",NHLBI,Thrombocythemia and Thrombocytosis +How to diagnose Thrombocythemia and Thrombocytosis ?,"Your doctor will diagnose thrombocythemia or thrombocytosis based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in blood diseases and conditions. + +Medical History + +Your doctor may ask you about factors that can affect your platelets, such as: + +Any medical procedures or blood transfusions you've had + +Any recent infections or vaccines you've had + +The medicines you take, including over-the-counter medicines + +Your general eating habits, including the amount of alcohol you normally drink + +Any family history of high platelet counts + +Physical Exam + +Your doctor will do a physical exam to look for signs and symptoms of blood clots and bleeding. He or she also will check for signs of conditions that can cause secondary thrombocytosis, such as an infection. + +Primary thrombocythemia is diagnosed only after all possible causes of a high platelet count are ruled out. For example, your doctor may recommend tests to check for early, undiagnosed cancer. If another disease, condition, or factor is causing a high platelet count, the diagnosis is secondary thrombocytosis. + +Diagnostic Tests + +Your doctor may recommend one or more of the following tests to help diagnose a high platelet count. + +Complete Blood Count + +A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. + +If you have thrombocythemia or thrombocytosis, the CBC results will show that your platelet count is high. + +Blood Smear + +A blood smear is used to check the condition of your platelets. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. Some of your blood is put on a glass slide. A microscope is then used to look at your platelets. + +Bone Marrow Tests + +Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in the bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy. + +Bone marrow aspiration might be done to find out whether your bone marrow is making too many platelets. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells. + +A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a small amount of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow. + +With thrombocythemia and thrombocytosis, the bone marrow has a higher than normal number of the very large cells that make platelets. + +Other Tests + +Your doctor may recommend other blood tests to look for genetic factors that can cause a high platelet count.",NHLBI,Thrombocythemia and Thrombocytosis +What are the treatments for Thrombocythemia and Thrombocytosis ?,"Primary Thrombocythemia + +This condition is considered less harmful today than in the past, and its outlook often is good. People who have no signs or symptoms don't need treatment, as long as the condition remains stable. + +Taking aspirin may help people who are at risk for blood clots (aspirin thins the blood). However, talk with your doctor about using aspirin because it can cause bleeding. + +Doctors prescribe aspirin to most pregnant women who have primary thrombocythemia. This is because it doesn't have a high risk of side effects for the fetus. + +Some people who have primary thrombocythemia may need medicines or medical procedures to lower their platelet counts. + +Medicines To Lower Platelet Counts + +You may need medicines to lower your platelet count if you: + +Have a history of blood clots or bleeding + +Have risk factors for heart disease, such as high blood cholesterol, high blood pressure, or diabetes + +Are older than 60 + +Have a platelet count over 1 million + +You'll need to take these medicines throughout your life. + +Hydroxyurea. This platelet-lowering medicine is used to treat cancers and other life-threatening diseases. Hydroxyurea most often is given under the care of doctors who specialize in cancer or blood diseases. Patients on hydroxyurea are closely monitored. + +Currently, hydroxyurea plus aspirin is the standard treatment for people who have primary thrombocythemia and are at high risk for blood clots. + +Anagrelide. This medicine also has been used to lower platelet counts in people who have thrombocythemia. However, research shows that when compared with hydroxyurea, anagrelide has worse outcomes. Anagrelide also has side effects, such as fluid retention, palpitations (pal-pih-TA-shuns), arrhythmias (ah-RITH-me-ahs), heart failure, and headaches. + +Interferon alfa. This medicine lowers platelet counts, but 20 percent of patients can't handle its side effects. Side effects include a flu-like feeling, decreased appetite, nausea (feeling sick to the stomach), diarrhea, seizures, irritability, and sleepiness. + +Doctors may prescribe this medicine to pregnant women who have primary thrombocythemia because it's safer for a fetus than hydroxyurea and anagrelide. + +Plateletpheresis + +Plateletpheresis (PLATE-let-fe-REH-sis) is a procedure used to rapidly lower your platelet count. This procedure is used only for emergencies. For example, if you're having a stroke due to primary thrombocythemia, you may need plateletpheresis. + +An intravenous (IV) needle that's connected to a tube is placed in one of your blood vessels to remove blood. The blood goes through a machine that removes platelets from the blood. The remaining blood is then put back into you through an IV line in one of your blood vessels. + +One or two procedures might be enough to reduce your platelet count to a safe level. + +Secondary Thrombocytosis + +Secondary thrombocytosis is treated by addressing the condition that's causing it. + +People who have secondary thrombocytosis usually don't need platelet-lowering medicines or procedures. This is because their platelets usually are normal (unlike in primary thrombocythemia). + +Also, secondary thrombocytosis is less likely than primary thrombocythemia to cause serious problems related to blood clots and bleeding.",NHLBI,Thrombocythemia and Thrombocytosis +How to prevent Thrombocythemia and Thrombocytosis ?,"You can't prevent primary thrombocythemia. However, you can take steps to reduce your risk for complications. For example, you can control many of the risk factors for blood clots, such as high blood cholesterol, high blood pressure, diabetes, and smoking. + +To reduce your risk, quit smoking, adopt healthy lifestyle habits, and work with your doctor to manage your risk factors. + +It's not always possible to prevent conditions that lead to secondary thrombocytosis. But, if you have routine medical care, your doctor may detect these conditions before you develop a high platelet count.",NHLBI,Thrombocythemia and Thrombocytosis +What is (are) Thrombotic Thrombocytopenic Purpura ?,"Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. + +The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. + +The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. + +With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal. + +""Thrombotic"" (throm-BOT-ik) refers to the blood clots that form. ""Thrombocytopenic"" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. ""Purpura"" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin. + +Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash. + +Purpura and Petechiae + + + +TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh)a rare form of anemia. Anemia is a condition in which the body has a lower than normal number of red blood cells. + +A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes TTP. The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. The enzyme breaks up a large protein called von Willebrand factor that clumps together with platelets to form blood clots. + +Types of Thrombotic Thrombocytopenic Purpura + +The two main types of TTP are inherited and acquired. ""Inherited"" means the condition is passed from parents to children through genes. This type of TTP mainly affects newborns and children. + +In inherited TTP, the ADAMTS13 gene is faulty and doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed. + +Acquired TTP is the more common type of the disorder. ""Acquired"" means you aren't born with the disorder, but you develop it. This type of TTP mostly occurs in adults, but it can affect children. + +In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme. + +It's not clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include: + +Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections + +Some medical procedures, such as surgery and blood and marrow stem cell transplant + +Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens + +Quinine, which is a substance often found in tonic water and nutritional health products + +If you have TTP, you may sometimes hear it referred to as TTPHUS. HUS, or hemolytic-uremic syndrome, is a disorder that resembles TTP, but is more common in children. Kidney problems also tend to be worse in HUS. Although some researchers think TTP and HUS are two forms of a single syndrome, recent evidence suggests that each has different causes. + +Outlook + +TTP is a rare disorder. It can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away. + +TTP usually occurs suddenly and lasts for days or weeks, but it can continue for months. Relapses (or flareups) can occur in up to 60 percent of people who have the acquired type of TTP. Many people who have inherited TTP have frequent flareups that need to be treated. + +Treatments for TTP include infusions of fresh frozen plasma and plasma exchange, also called plasmapheresis (PLAZ-ma-feh-RE-sis). These treatments have greatly improved the outlook of the disorder.",NHLBI,Thrombotic Thrombocytopenic Purpura +What causes Thrombotic Thrombocytopenic Purpura ?,"A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes thrombotic thrombocytopenic purpura (TTP). The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. + +Not having enough enzyme activity causes overactive blood clotting. In TTP, blood clots form in small blood vessels throughout the body. These clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. + +The increased clotting that occurs in TTP also uses up many of the blood's platelets. With fewer platelets available in the blood, bleeding problems can occur. + +People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal. + +TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia. + +Inherited Thrombotic Thrombocytopenic Purpura + +In inherited TTP, the ADAMTS13 gene is faulty. It doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed. + +""Inherited"" means that the condition is passed from parents to children through genes. A person who inherits TTP is born with two copies of the faulty geneone from each parent. + +Most often, the parents each have one copy of the faulty gene, but have no signs or symptoms TTP. + +Acquired Thrombotic Thrombocytopenic Purpura + +In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme. + +""Acquired"" means you aren't born with the condition, but you develop it sometime after birth. + +Triggers for Thrombotic Thrombocytopenic Purpura + +It's unclear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include: + +Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections + +Some medical procedures, such as surgery and blood and marrow stem cell transplant + +Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens + +Quinine, which is a substance often found in tonic water and nutritional health products",NHLBI,Thrombotic Thrombocytopenic Purpura +Who is at risk for Thrombotic Thrombocytopenic Purpura? ?,"Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups. + +Inherited TTP mainly affects newborns and children. Most people who have inherited TTP begin to have symptoms soon after birth. Some, however, don't have symptoms until they're adults. + +It isn't clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include: + +Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections + +Some medical procedures, such as surgery and blood and marrow stem cell transplant + +Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens + +Quinine, which is a substance often found in tonic water and nutritional health products",NHLBI,Thrombotic Thrombocytopenic Purpura +What are the symptoms of Thrombotic Thrombocytopenic Purpura ?,"Blood clots, a low platelet count, and damaged red blood cells cause the signs and symptoms of thrombotic thrombocytopenic purpura (TTP). + +The signs and symptoms include: + +Purplish bruises on the skin or mucous membranes (such as in the mouth). These bruises, called purpura, are caused by bleeding under the skin. + +Pinpoint-sized red or purple dots on the skin. These dots, called petechiae, often are found in groups and may look like a rash. Bleeding under the skin causes petechiae. + +Paleness or jaundice (a yellowish color of the skin or whites of the eyes). + +Fatigue (feeling very tired and weak). + +Fever. + +A fast heart rate or shortness of breath. + +Headache, speech changes, confusion, coma, stroke, or seizure. + +A low amount of urine, or protein or blood in the urine. + +If you've had TTP and have any of these signs or symptoms, you may be having a relapse (flareup). Ask your doctor when to call him or her or seek emergency care.",NHLBI,Thrombotic Thrombocytopenic Purpura +How to diagnose Thrombotic Thrombocytopenic Purpura ?,"Your doctor will diagnosis thrombotic thrombocytopenic purpura (TTP) based on your medical history, a physical exam, and test results. + +If TTP is suspected or diagnosed, a hematologist will be involved in your care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders. + +Medical History + +Your doctor will ask about factors that may affect TTP. For example, he or she may ask whether you: + +Have certain diseases or conditions, such as cancer, HIV, lupus, or infections (or whether you're pregnant). + +Have had previous medical procedures, such as a blood and marrow stem cell transplant. + +Take certain medicines, such as ticlopidine, clopidogrel, cyclosporine A, or hormone therapy and estrogens, or whether you've had chemotherapy. + +Have used any products that contain quinine. Quinine is a substance often found in tonic water and nutritional health products. + +Physical Exam + +As part of the medical history and physical exam, your doctor will ask about any signs or symptoms you've had. He or she will look for signs such as: + +Bruising and bleeding under your skin + +Fever + +Paleness or jaundice (a yellowish color of the skin or whites of the eyes) + +A fast heart rate + +Speech changes or changes in awareness that can range from confusion to passing out + +Changes in urine + +Diagnostic Tests + +Your doctor also may recommend tests to help find out whether you have TTP. + +Complete Blood Count + +This test measures the number of red blood cells, white blood cells, and platelets in your blood. For this test, a sample of blood is drawn from a vein, usually in your arm. + +If you have TTP, you'll have a lower than normal number of platelets and red blood cells (anemia). + +Blood Smear + +For this test, a sample of blood is drawn from a vein, usually in your arm. Some of your blood is put on a glass slide. A microscope is then used to look at your red blood cells. In TTP, the red blood cells are torn and broken. + +Platelet Count + +This test counts the number of platelets in a blood smear. People who have TTP have a lower than normal number of platelets in their blood. This test is used with the blood smear to help diagnose TTP. + +Bilirubin Test + +When red blood cells die, they release a protein called hemoglobin (HEE-muh-glow-bin) into the bloodstream. The body breaks down hemoglobin into a compound called bilirubin. High levels of bilirubin in the bloodstream cause jaundice. + +For this blood test, a sample of blood is drawn from a vein, usually in your arm. The level of bilirubin in the sample is checked. If you have TTP, your bilirubin level may be high because your body is breaking down red blood cells faster than normal. + +Kidney Function Tests and Urine Tests + +These tests show whether your kidneys are working well. If you have TTP, your urine may contain protein or blood cells. Also, your blood creatinine (kre-AT-ih-neen) level may be high. Creatinine is a blood product that's normally removed by the kidneys. + +Coombs Test + +This blood test is used to find out whether TTP is the cause of hemolytic anemia. For this test, a sample of blood is drawn from a vein, usually in your arm. + +In TTP, hemolytic anemia occurs because red blood cells are broken into pieces as they try to squeeze around blood clots. + +When TTP is the cause of hemolytic anemia, the Coombs test is negative. The test is positive if antibodies (proteins) are destroying your red blood cells. + +Lactate Dehydrogenase Test + +This blood test measures a protein called lactate dehydrogenase (LDH). For this test, a sample of blood is drawn from a vein, usually in your arm. + +Hemolytic anemia causes red blood cells to break down and release LDH into the blood. LDH also is released from tissues that are injured by blood clots as a result of TTP. + +ADAMTS13 Assay + +A lack of activity in the ADAMTS13 enzyme causes TTP. For this test, a sample of blood is drawn from a vein, usually in your arm. The blood is sent to a special lab to test for the enzyme's activity.",NHLBI,Thrombotic Thrombocytopenic Purpura +What are the treatments for Thrombotic Thrombocytopenic Purpura ?,"Thrombotic thrombocytopenic purpura (TTP) can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away. + +In most cases, TTP occurs suddenly and lasts for days or weeks, but it can go on for months. Relapses (flareups) can occur in up to 60 percent of people who have acquired TTP. Flareups also occur in most people who have inherited TTP. + +Plasma treatments are the most common way to treat TTP. Other treatments include medicines and surgery. Treatments are done in a hospital. + +Plasma Therapy + +Plasma is the liquid part of your blood. It carries blood cells, hormones, enzymes, and nutrients to your body. + +TTP is treated with plasma therapy. This includes: + +Fresh frozen plasma for people who have inherited TTP + +Plasma exchange for people who have acquired TTP + +Plasma therapy is started in the hospital as soon as TTP is diagnosed or suspected. + +For inherited TTP, fresh frozen plasma is given through an intravenous (IV) line inserted into a vein. This is done to replace the missing or changed ADAMTS13 enzyme. + +Plasma exchange (also called plasmapheresis) is used to treat acquired TTP. This is a lifesaving procedure. It removes antibodies (proteins) from the blood that damage your ADAMTS13 enzyme. Plasma exchange also replaces the ADAMTS13 enzyme. + +If plasma exchange isn't available, you may be given fresh frozen plasma until it is available. + +During plasma exchange, an IV needle or tube is placed in a vein in your arm to remove blood. The blood goes through a cell separator, which removes plasma from the blood. The nonplasma part of the blood is saved, and donated plasma is added to it. + +Then, the blood is put back into you through an IV line inserted into one of your blood vessels. The time required to complete the procedure varies, but it often takes about 2hours. + +Treatments of fresh frozen plasma or plasma exchange usually continue until your blood tests results and signs and symptoms improve. This can take days or weeks, depending on your condition. You'll stay in the hospital while you recover. + +Some people who recover from TTP have flareups. This can happen in the hospital or after you go home. If you have a flareup, your doctor will restart plasma therapy. + +Other Treatments + +Other treatments are used if plasma therapy doesn't work well or if flareups occur often. + +For acquired TTP, medicines can slow or stop antibodies to the ADAMTS13 enzyme from forming. Medicines used to treat TTP include glucocorticoids, vincristine, rituximab, and cyclosporine A. + +Sometimes surgery to remove the spleen (an organ in the abdomen) is needed. This is because cells in the spleen make the antibodies that block ADAMTS13 enzyme activity.",NHLBI,Thrombotic Thrombocytopenic Purpura +How to prevent Thrombotic Thrombocytopenic Purpura ?,"Both inherited and acquired thrombotic thrombocytopenic purpura (TTP) occur suddenly with no clear cause. You can't prevent either type. + +If you've had TTP, watch for signs and symptoms of a relapse (flareup). (For more information, go to ""Living With Thrombotic Thrombocytopenic Purpura."") + +Ask your doctor about factors that may trigger TTP or a flareup, including: + +Some diseases or conditions, such as pregnancy, cancer, HIV, lupus, or infections. + +Some medical procedures, such as surgery and blood and marrow stem cell transplant. + +Some medicines, such as ticlopidine, clopidogrel, cyclosporine A, chemotherapy, and hormone therapy and estrogens. If you take any of these medicines, your doctor may prescribe a different medicine. + +Quinine, which is a substance often found in tonic water and nutritional health products.",NHLBI,Thrombotic Thrombocytopenic Purpura +What is (are) Atherosclerosis ?,"Espaol + +Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body. + +Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body. + +Atherosclerosis can lead to serious problems, including heart attack, stroke, or even death. + +Atherosclerosis + + + +Atherosclerosis-Related Diseases + +Atherosclerosis can affect any artery in the body, including arteries in the heart, brain, arms, legs, pelvis, and kidneys. As a result, different diseases may develop based on which arteries are affected. + +Coronary Heart Disease + +Coronary heart disease (CHD), also called coronary artery disease, occurs when plaque builds up in the coronary arteries. These arteries supply oxygen-rich blood to your heart. + +Plaque narrows the coronary arteries and reduces blood flow to your heart muscle. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. + +If blood flow to your heart muscle is reduced or blocked, you may have angina (chest pain or discomfort) or a heart attack. + +Plaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). In coronary MVD, plaque doesn't cause blockages in the arteries as it does in CHD. + +Carotid Artery Disease + +Carotid (ka-ROT-id) artery disease occurs if plaque builds up in the arteries on each side of your neck (the carotid arteries). These arteries supply oxygen-rich blood to your brain. If blood flow to your brain is reduced or blocked, you may have a stroke. + +Peripheral Artery Disease + +Peripheral artery disease (P.A.D.) occurs if plaque builds up in the major arteries that supply oxygen-rich blood to your legs, arms, and pelvis. + +If blood flow to these parts of your body is reduced or blocked, you may have numbness, pain, and, sometimes, dangerous infections. + +Chronic Kidney Disease + +Chronic kidney disease can occur if plaque builds up in the renal arteries. These arteries supply oxygen-rich blood to your kidneys. + +Over time, chronic kidney disease causes a slow loss of kidney function. The main function of the kidneys is to remove waste and extra water from the body. + +Overview + +The cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. + +You can control some risk factors, such as lack of physical activity, smoking, and an unhealthy diet. Others you can't control, such as age and a family history of heart disease. + +Some people who have atherosclerosis have no signs or symptoms. They may not be diagnosed until after a heart attack or stroke. + +The main treatment for atherosclerosis is lifestyle changes. You also may need medicines and medical procedures. These treatments, along with ongoing medical care, can help you live a healthier life. + +Outlook + +Improved treatments have reduced the number of deaths from atherosclerosis-related diseases. These treatments also have improved the quality of life for people who have these diseases. However, atherosclerosis remains a common health problem. + +You may be able to prevent or delay atherosclerosis and the diseases it can cause. Making lifestyle changes and getting ongoing care can help you avoid the problems of atherosclerosis and live a long, healthy life.",NHLBI,Atherosclerosis +What causes Atherosclerosis ?,"The exact cause of atherosclerosis isn't known. However, studies show that atherosclerosis is a slow, complex disease that may start in childhood. It develops faster as you age. + +Atherosclerosis may start when certain factors damage the inner layers of the arteries. These factors include: + +Smoking + +High amounts of certain fats and cholesterol in the blood + +High blood pressure + +High amounts of sugar in the blood due to insulin resistance or diabetes + +Plaque may begin to build up where the arteries are damaged. Over time, plaque hardens and narrows the arteries. Eventually, an area of plaque can rupture (break open). + +When this happens, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots. Clots narrow the arteries even more, limiting the flow of oxygen-rich blood to your body. + +Depending on which arteries are affected, blood clots can worsen angina (chest pain) or cause a heart attack or stroke. + +Researchers continue to look for the causes of atherosclerosis. They hope to find answers to questions such as: + +Why and how do the arteries become damaged? + +How does plaque develop and change over time? + +Why does plaque rupture and lead to blood clots?",NHLBI,Atherosclerosis +Who is at risk for Atherosclerosis? ?,"The exact cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. The more risk factors you have, the more likely it is that you'll develop atherosclerosis. + +You can control most risk factors and help prevent or delay atherosclerosis. Other risk factors can't be controlled. + +Major Risk Factors + +Unhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called ""bad"" cholesterol) and low HDL cholesterol (sometimes called ""good"" cholesterol). + +High blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Smoking. Smoking can damage and tighten blood vessels, raise cholesterol levels, and raise blood pressure. Smoking also doesn't allow enough oxygen to reach the body's tissues. + +Insulin resistance. This condition occurs if the body can't use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used as an energy source. Insulin resistance may lead to diabetes. + +Diabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly. + +Overweight or obesity. The terms ""overweight"" and ""obesity"" refer to body weight that's greater than what is considered healthy for a certain height. + +Lack of physical activity. A lack of physical activity can worsen other risk factors for atherosclerosis, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight and obesity. + +Unhealthy diet. An unhealthy diet can raise your risk for atherosclerosis. Foods that are high in saturated and trans fats, cholesterol, sodium (salt), and sugar can worsen other atherosclerosis risk factors. + +Older age. As you get older, your risk for atherosclerosis increases. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. By the time you're middle-aged or older, enough plaque has built up to cause signs or symptoms. In men, the risk increases after age 45. In women, the risk increases after age 55. + +Family history of early heart disease. Your risk for atherosclerosis increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age. + +Although age and a family history of early heart disease are risk factors, it doesn't mean that you'll develop atherosclerosis if you have one or both. Controlling other risk factors often can lessen genetic influences and prevent atherosclerosis, even in older adults. + +Studies show that an increasing number of children and youth are at risk for atherosclerosis. This is due to a number of causes, including rising childhood obesity rates. + +Emerging Risk Factors + +Scientists continue to study other possible risk factors for atherosclerosis. + +High levels of a protein called C-reactive protein (CRP) in the blood may raise the risk for atherosclerosis and heart attack. High levels of CRP are a sign of inflammation in the body. + +Inflammation is the body's response to injury or infection. Damage to the arteries' inner walls seems to trigger inflammation and help plaque grow. + +People who have low CRP levels may develop atherosclerosis at a slower rate than people who have high CRP levels. Research is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk for atherosclerosis. + +High levels of triglycerides (tri-GLIH-seh-rides) in the blood also may raise the risk for atherosclerosis, especially in women. Triglycerides are a type of fat. + +Studies are under way to find out whether genetics may play a role in atherosclerosis risk. + +Other Factors That Affect Atherosclerosis + +Other factors also may raise your risk for atherosclerosis, such as: + +Sleep apnea. Sleep apnea is a disorder that causes one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can raise your risk for high blood pressure, diabetes, and even a heart attack or stroke. + +Stress. Research shows that the most commonly reported ""trigger"" for a heart attack is an emotionally upsetting event, especially one involving anger. + +Alcohol. Heavy drinking can damage the heart muscle and worsen other risk factors for atherosclerosis. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day.",NHLBI,Atherosclerosis +What are the symptoms of Atherosclerosis ?,"Atherosclerosis usually doesn't cause signs and symptoms until it severely narrows or totally blocks an artery. Many people don't know they have the disease until they have a medical emergency, such as a heart attack or stroke. + +Some people may have signs and symptoms of the disease. Signs and symptoms will depend on which arteries are affected. + +Coronary Arteries + +The coronary arteries supply oxygen-rich blood to your heart. If plaque narrows or blocks these arteries (a disease called coronary heart disease, or CHD), a common symptom is angina. Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. + +Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain. + +Other symptoms of CHD are shortness of breath and arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. + +Plaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). Symptoms of coronary MVD include angina, shortness of breath, sleep problems, fatigue (tiredness), and lack of energy. + +Carotid Arteries + +The carotid arteries supply oxygen-rich blood to your brain. If plaque narrows or blocks these arteries (a disease called carotid artery disease), you may have symptoms of a stroke. These symptoms may include: + +Sudden weakness + +Paralysis (an inability to move) or numbness of the face, arms, or legs, especially on one side of the body + +Confusion + +Trouble speaking or understanding speech + +Trouble seeing in one or both eyes + +Problems breathing + +Dizziness, trouble walking, loss of balance or coordination, and unexplained falls + +Loss of consciousness + +Sudden and severe headache + +Peripheral Arteries + +Plaque also can build up in the major arteries that supply oxygen-rich blood to the legs, arms, and pelvis (a disease calledperipheral artery disease). + +If these major arteries are narrowed or blocked, you may have numbness, pain, and, sometimes, dangerous infections. + +Renal Arteries + +The renal arteries supply oxygen-rich blood to your kidneys. If plaque builds up in these arteries, you may develop chronic kidney disease. Over time, chronic kidney disease causes a slow loss of kidney function. + +Early kidney disease often has no signs or symptoms. As the disease gets worse it can cause tiredness, changes in how you urinate (more often or less often), loss of appetite, nausea (feeling sick to the stomach), swelling in the hands or feet, itchiness or numbness, and trouble concentrating.",NHLBI,Atherosclerosis +How to diagnose Atherosclerosis ?,"Your doctor will diagnose atherosclerosis based on your medical and family histories, a physical exam, and test results. + +Specialists Involved + +If you have atherosclerosis, a primary care doctor, such as an internist or family practitioner, may handle your care. Your doctor may recommend other health care specialists if you need expert care, such as: + +A cardiologist. This is a doctor who specializes in diagnosing and treating heart diseases and conditions. You may go to a cardiologist if you haveperipheral artery disease(P.A.D.)or coronary microvascular disease (MVD). + +A vascular specialist. This is a doctor who specializes in diagnosing and treating blood vessel problems. You may go to a vascular specialist if you have P.A.D. + +A neurologist. This is a doctor who specializes in diagnosing and treating nervous system disorders. You may see a neurologist if you've had a stroke due to carotid artery disease. + +A nephrologist. This is a doctor who specializes in diagnosing and treating kidney diseases and conditions. You may go to a nephrologist if you have chronic kidney disease. + +Physical Exam + +During the physical exam, your doctor may listen to your arteries for an abnormal whooshing sound called a bruit (broo-E). Your doctor can hear a bruit when placing a stethoscope over an affected artery. A bruit may indicate poor blood flow due to plaque buildup. + +Your doctor also may check to see whether any of your pulses (for example, in the leg or foot) are weak or absent. A weak or absent pulse can be a sign of a blocked artery. + +Diagnostic Tests + +Your doctor may recommend one or more tests to diagnose atherosclerosis. These tests also can help your doctor learn the extent of your disease and plan the best treatment. + +Blood Tests + +Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels may be a sign that you're at risk for atherosclerosis. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can show signs of heart damage caused by CHD. The test also can show signs of a previous or current heart attack. + +Chest X Ray + +A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray can reveal signs of heart failure. + +Ankle/Brachial Index + +This test compares the blood pressure in your ankle with the blood pressure in your arm to see how well your blood is flowing. This test can help diagnose P.A.D. + +Echocardiography + +Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test provides information about the size and shape of your heart and how well your heart chambers and valves are working. + +Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +Computed Tomography Scan + +A computed tomography (CT) scan creates computer-generated pictures of the heart, brain, or other areas of the body. The test can show hardening and narrowing of large arteries. + +A cardiac CT scan also can show whether calcium has built up in the walls of the coronary (heart) arteries. This may be an early sign of CHD. + +Stress Testing + +During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast. + +When your heart is working hard, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs. + +A stress test can show possible signs and symptoms of CHD, such as: + +Abnormal changes in your heart rate or blood pressure + +Shortness of breath or chest pain + +Abnormal changes in your heart rhythm or your heart's electrical activity + +As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in various parts of your heart. They also can show how well your heart pumps blood when it beats. + +Angiography + +Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the inside of your arteries. This test can show whether plaque is blocking your arteries and how severe the blockage is. + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. Dye that can be seen on an x-ray picture is injected through the catheter into the arteries. By looking at the x-ray picture, your doctor can see the flow of blood through your arteries. + +Other Tests + +Other tests are being studied to see whether they can give a better view of plaque buildup in the arteries. Examples of these tests include magnetic resonance imaging (MRI) and positron emission tomography (PET).",NHLBI,Atherosclerosis +What are the treatments for Atherosclerosis ?,"Treatments for atherosclerosis may include heart-healthy lifestyle changes, medicines, and medical procedures or surgery. The goals of treatment include: + +Lowering the risk of blood clots forming + +Preventing atherosclerosis-related diseases + +Reducing risk factors in an effort to slow or stop the buildup of plaque + +Relieving symptoms + +Widening or bypassing plaque-clogged arteries + +Heart-Healthy Lifestyle Changes + +Your doctor may recommend heart-healthy lifestyle changes if you have atherosclerosis. Heart-healthy lifestyle changes include heart-healthy eating, maintaining a healthy weight, managing stress, physical activity and quitting smoking. + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25.0 and 29.9 is considered overweight. + +A BMI of 30.0 or higher is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, visit Aim for a Healthy Weight. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Regular physical activity can lower many atherosclerosis risk factors, including LDL or bad cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL or good cholesterol, which helps prevent atherosclerosis. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30 minutes per week or vigorous aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans + +Quitting Smoking + +If you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk for atherosclerosis. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, visit Smoking and Your Heart. + +Medicines + +Sometimes lifestyle changes alone arent enough to control your cholesterol levels. For example, you also may need statin medications to control or lower your cholesterol. By lowering your blood cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have: + +Coronary heart disease, peripheral artery disease, or had a prior stroke + +Diabetes + +High LDL cholesterol levels + +Doctors may discuss beginning statin treatment with people who have an elevated risk for developing heart disease or having a stroke. Your doctor also may prescribe other medications to: + +Lower your blood pressure + +Lower your blood sugar levels + +Prevent blood clots, which can lead to heart attack and stroke + +Prevent inflammation + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your atherosclerosis. + +Medical Procedures and Surgery + +If you have severe atherosclerosis, your doctor may recommend a medical procedure or surgery. + +Percutaneous coronary intervention (PCI), also known as coronary angioplasty, is a procedure thats used to open blocked or narrowed coronary (heart) arteries. PCI can improve blood flow to the heart and relieve chest pain. Sometimes a small mesh tube called a stent is placed in the artery to keep it open after the procedure. + +Coronary artery bypass grafting (CABG) is a type of surgery. In CABG, arteries or veins from other areas in your body are used to bypass or go around your narrowed coronary arteries. CABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack. + +Bypass grafting also can be used for leg arteries. For this surgery, a healthy blood vessel is used to bypass a narrowed or blocked artery in one of the legs. The healthy blood vessel redirects blood around the blocked artery, improving blood flow to the leg. + +Carotid endarterectomy is a type of surgery to remove plaque buildup from the carotid arteries in the neck. This procedure restores blood flow to the brain, which can help prevent a stroke.",NHLBI,Atherosclerosis +How to prevent Atherosclerosis ?,"Taking action to control your risk factors can help prevent or delay atherosclerosis and its related diseases. Your risk for atherosclerosis increases with the number of risk factors youhave. + +One step you can take is to adopt a healthy lifestyle, which can include: + +Heart-Healthy Eating. Adopt heart-healthy eating habits, which include eating different fruits and vegetables (including beans and peas), whole grains, lean meats, poultry without skin, seafood, and fat-free or low-fat milk and dairy products. A heart-healthy diet is low in sodium, added sugar, solid fats, and refined grains. Following a heart-healthy diet is an important part of a healthy lifestyle. + +Physical Activity. Be as physically active as you can. Physical activity can improve your fitness level and your health. Ask your doctor what types and amounts of activity are safe for you. Read more about Physical Activity and Your Heart. + +Quit Smoking. If you smoke, quit. Smoking can damage and tighten blood vessels and raise your risk for atherosclerosis. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. Read more about Smoking and Your Heart. + +Weight Control. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control risk factors foratherosclerosis. + +Other steps that can prevent or delay atherosclerosis include knowing your family history of atherosclerosis. If you or someone in your family has an atherosclerosis-related disease, be sure to tell your doctor. + +If lifestyle changes arent enough, your doctor may prescribe medicines to control your atherosclerosis risk factors. Take all of your medicines as your doctor advises.",NHLBI,Atherosclerosis +What is (are) Sickle Cell Disease ?,"Espaol + +The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells. + +Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. + +Inherited means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else. + +People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a persons body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD. + +Hemoglobin SC disease and hemoglobin S thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD. + +Some Forms of Sickle Cell Disease + +Hemoglobin SS + +Hemoglobin SC + +Hemoglobin S0 thalassemia + +Hemoglobin S+ thalassemia + +Hemoglobin SD + +Hemoglobin SE + + + +Overview + +Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body. + +Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen. + +Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape. + +Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen cant reach nearby tissues. + +Normal Red Cells and Sickle Red Cells + + + +The lack of tissue oxygen can cause attacks of sudden, severe pain, called pain crises. These pain attacks can occur without warning, and a person often needs to go to the hospital for effective treatment. + +Most children with SCD are pain free between painful crises, but adolescents and adults may also suffer with chronic ongoing pain. + +The red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime, SCD can harm a persons spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin. + +Sickle cells cant change shape easily, so they tend to burst apart or hemolyze. Normal red blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days. + +The body is always making new red blood cells to replace the old cells; however, in SCD the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition, called anemia, can make a person have less energy. + +Outlook + +Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person. + +In high-income countries like the United States, the life expectancy of a person with SCD is now about 4060 years. In 1973, the average lifespan of a person with SCD in the United States was only 14 years. Advances in the diagnosis and care of SCD have made this improvement possible. + +At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. Unfortunately, most people with SCD are either too old for a transplant or dont have a relative who is a good enough genetic match for them to act as a donor. A well-matched donor is needed to have the best chance for a successful transplant. + +There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.",NHLBI,Sickle Cell Disease +What causes Sickle Cell Disease ?,"Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD). + +The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. (See Overview.) + + + +How Is Sickle Cell Disease Inherited? + +When the hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other, a person will have sickle cell trait. People with sickle cell trait are generally healthy. + +Only rarely do people with sickle cell trait have complications similar to those seen in people with SCD. But people with sickle cell trait are carriers of a defective hemoglobin S gene. So, they can pass it on when they have a child. + +If the childs other parent also has sickle cell trait or another abnormal hemoglobin gene (like thalassemia, hemoglobin C, hemoglobin D, hemoglobin E), that child has a chance of having SCD. + +Example of an Inheritance Pattern + + + +In the image above, each parent has one hemoglobin A gene and one hemoglobin S gene, and each of their children has: + +A 25 percent chance of inheriting two normal genes: In this case the child does not have sickle cell trait or disease. (Case 1) + +A 50 percent chance of inheriting one hemoglobin A gene and one hemoglobin S gene: This child has sickle cell trait. (Cases 2 and 3) + +A 25 percent chance of inheriting two hemoglobin S genes: This child has sickle cell disease. (Case 4) + +It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same. In other words, if the first-born child has sickle cell disease, there is still a 25 percent chance that the second child will also have the disease. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin. + +If a person wants to know if he or she carries a sickle hemoglobin gene, a doctor can order a blood test to find out.",NHLBI,Sickle Cell Disease +Who is at risk for Sickle Cell Disease? ?,"In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. + +About 1 in 13 African American babies is born with sickle cell trait. + +About 1 in every 365 black children is born with sickle cell disease. + +There are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. + +Approximately 100,000 Americans have SCD.",NHLBI,Sickle Cell Disease +What are the symptoms of Sickle Cell Disease ?,"Early Signs and Symptoms + +If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about 5 or 6 months of age. Every state in the United States, the District of Columbia, and the U.S. territories requires that all newborn babies receive screening for SCD. When a child has SCD, parents are notified before the child has symptoms. + +Some children with SCD will start to have problems early on, and some later. Early symptoms of SCD may include: + +Painful swelling of the hands and feet, known as dactylitis + +Fatigue or fussiness from anemia + +A yellowish color of the skin, known as jaundice, or whites of the eyes, known as icteris, that occurs when a large number of red cells hemolyze + +The signs and symptoms of SCD will vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. + +Major Complications of Sickle Cell Disease + +Acute Pain (Sickle Cell or Vaso-occlusive) Crisis + +Pain episodes (crises) can occur without warning when sickle cells block blood flow and decrease oxygen delivery. People describe this pain as sharp, intense, stabbing, or throbbing. Severe crises can be even more uncomfortable than post-surgical pain or childbirth. + +Pain can strike almost anywhere in the body and in more than one spot at a time. But the pain often occurs in the + +Lower back + +Legs + +Arms + +Abdomen + +Chest + +A crisis can be brought on by + +Illness + +Temperature changes + +Stress + +Dehydration (not drinking enough) + +Being at high altitudes + +But often a person does not know what triggers, or causes, the crisis. (See acute pain management.) + +Chronic Pain + +Many adolescents and adults with SCD suffer from chronic pain. This kind of pain has been hard for people to describe, but it is usually different from crisis pain or the pain that results from organ damage. + +Chronic pain can be severe and can make life difficult. Its cause is not well understood. (See chronic pain management.) + +Severe Anemia + +People with SCD usually have mild to moderate anemia. At times, however, they can have severe anemia. Severe anemia can be life threatening. Severe anemia in an infant or child with SCD may be caused by: + +Splenic sequestration crisis. The spleen is an organ that is located in the upper left side of the belly. The spleen filters germs in the blood, breaks up blood cells, and makes a kind of white blood cell. A splenic sequestration crisis occurs when red blood cells get stuck in the spleen, making it enlarge quickly. Since the red blood cells are trapped in the spleen, there are fewer cells to circulate in the blood. This causes severe anemia. A big spleen may also cause pain in the left side of the belly. A parent can usuallypalpate or feel the enlarged spleen in the belly of his or her child. + +A big spleen may also cause pain in the left side of the belly. A parent can usuallypalpate or feel the enlarged spleen in the belly of his or her child. + +Aplastic crisis. This crisis is usually caused by a parvovirus B19 infection, also called fifth disease or slapped cheek syndrome. Parvovirus B19 is a very common infection, but in SCD it can cause the bone marrow to stop producing new red cells for a while, leading to severe anemia. + +Splenic sequestration crisis and aplastic crisis most commonly occur in infants and children with SCD. Adults with SCD may also experience episodes of severe anemia, but these usually have other causes. + +No matter the cause, severe anemia may lead to symptoms that include: + +Shortness of breath + +Being very tired + +Feeling dizzy + +Having pale skin + +Babies and infants with severe anemia may feed poorly and seem very sluggish. (See anemia management.) + +Infections + +The spleen is important for protection against certain kinds of germs. Sickle cells can damage the spleen and weaken or destroy its function early in life. + +People with SCD who have damaged spleens are at risk for serious bacterial infections that can be life-threatening. Some of these bacteria include: + +Pneumococcus + +Hemophilus influenza type B + +Meningococcus + +Salmonella + +Staphylococcus + +Chlamydia + +Mycoplasma pneumoniae + +Bacteria can cause: + +Blood infection (septicemia) + +Lung infection (pneumonia) + +Infection of the covering of the brain and spinal cord (meningitis) + +Bone infection (osteomyelitis) + +(See how to prevent infections and infection management.) + +Acute Chest Syndrome + +Sickling in blood vessels of the lungs can deprive a persons lungs of oxygen. When this happens, areas of lung tissue are damaged and cannot exchange oxygen properly. This condition is known as acute chest syndrome. In acute chest syndrome, at least one segment of the lung is damaged. + +This condition is very serious and should be treated right away at a hospital. + +Acute chest syndrome often starts a few days after a painful crisis begins. A lung infection may accompany acute chest syndrome. + +Symptoms may include: + +Chest pain + +Fever + +Shortness of breath + +Rapid breathing + +Cough + +(See acute chest syndrome management.) + +Brain Complications + +Clinical Stroke + +A stroke occurs when blood flow is blocked to a part of the brain. When this happens, brain cells can be damaged or can die. In SCD, a clinical stroke means that a person shows outward signs that something is wrong. The symptoms depend upon what part of the brain is affected. Symptoms of stroke may include: + +Weakness of an arm or leg on one side of the body + +Trouble speaking, walking, or understanding + +Loss of balance + +Severe headache + +As many as 24 percent of people with hemoglobin SS and 10 percent of people with hemoglobin SC may suffer a clinical stroke by age 45. + +In children, clinical stroke occurs most commonly between the ages of 2 and 9, but recent prevention strategies have lowered the risk. (See Transcranial Doppler (TCD) Ultrasound Screening) and Red Blood Cell Transfusions.) + +When people with SCD show symptoms of stroke, their families or friends should call 9-1-1 right away. (See clinical stroke management.) + +Silent Stroke and Thinking Problems + +Brain imaging and tests of thinking (cognitive studies) have shown that children and adults with hemoglobin SS and hemoglobin S0 thalassemia often have signs of silent brain injury, also called silent stroke. Silent brain injury is damage to the brain without showing outward signs of stroke. + +This injury is common. Silent brain injury can lead to learning problems or trouble making decisions or holding down a job. (See Cognitive Screening and silent stroke management.) + +Eye Problems + +Sickle cell disease can injure blood vessels in the eye. + +The most common site of damage is the retina, where blood vessels can overgrow, get blocked, or bleed. The retina is the light-sensitive layer of tissue that lines the inside of the eye and sends visual messages through the optic nerve to the brain. + +Detachment of the retina can occur. When the retina detaches, it is lifted or pulled from its normal position. These problems can cause visual impairment or loss. (See Eye Examinations.) + +Heart Disease + +People with SCD can have problems with blood vessels in the heart and with heart function. The heart can become enlarged. People can also develop pulmonary hypertension. + +People with SCD who have received frequent blood transfusions may also have heart damage from iron overload. (See transfusion management.) + +Pulmonary Hypertension + +In adolescents and adults, injury to blood vessels in the lungs can make it hard for the heart to pump blood through them. This causes the pressure in lung blood vessels to rise. High pressure in these blood vessels is called pulmonary hypertension. Symptoms may include shortness of breath and fatigue. + +When this condition is severe, it has been associated with a higher risk of death. (See screening for pulmonary hypertension.) + +Kidney Problems + +The kidneys are sensitive to the effects of red blood cell sickling. + +SCD causes the kidneys to have trouble making the urine as concentrated as it should be. This may lead to a need to urinate often and to have bedwetting or uncontrolled urination during the night (nocturnal enuresis). This often starts in childhood. Other problems may include: + +Blood in the urine + +Decreased kidney function + +Kidney disease + +Protein loss in the urine + +Priapism + +Males with SCD can have unwanted, sometimes prolonged, painful erections. This condition is called priapism. + +Priapism happens when blood flow out of the erect penis is blocked by sickled cells. If it goes on for a long period of time, priapism can cause permanent damage to the penis and lead to impotence. + +If priapism lasts for more than 4 hours, emergency medical care should be sought to avoid complications. (See priapism management.) + +Gallstones + +When red cells hemolyze, they release hemoglobin. Hemoglobin gets broken down into a substance called bilirubin. Bilirubin can form stones that get stuck in the gallbladder. The gallbladder is a small, sac-shaped organ beneath the liver that helps with digestion. Gallstones are a common problem in SCD. + +Gallstones may be formed early on but may not produce symptoms for years. When symptoms develop, they may include: + +Right-sided upper belly pain + +Nausea + +Vomiting + +If problems continue or recur, a person may need surgery to remove the gallbladder. + +Liver Complications + +There are a number of ways in which the liver may be injured in SCD. + +Sickle cell intrahepatic cholestasis is an uncommon, but severe, form of liver damage that occurs when sickled red cells block blood vessels in the liver. This blockage prevents enough oxygen from reaching liver tissue. + +These episodes are usually sudden and may recur. Children often recover, but some adults may have chronic problems that lead to liver failure. + +People with SCD who have received frequent blood transfusions may develop liver damage from iron overload. + +Leg Ulcers + +Sickle cell ulcers are sores that usually start small and then get larger and larger. + +The number of ulcers can vary from one to many. Some ulcers will heal quickly, but others may not heal and may last for long periods of time. Some ulcers come back after healing. + +People with SCD usually dont get ulcers until after the age of 10. + +Joint Complications + +Sickling in the bones of the hip and, less commonly, the shoulder joints, knees, and ankles, can decrease oxygen flow and result in severe damage. This damage is a condition called avascular or aseptic necrosis. This disease is usually found in adolescents and adults. + +Symptoms include pain and problems with walking and joint movement. A person may need pain medicines, surgery, or joint replacement if symptoms persist. + +Delayed Growth and Puberty + +Children with SCD may grow and develop more slowly than their peers because of anemia. They will reach full sexual maturity, but this may be delayed. + +Pregnancy + +Pregnancies in women with SCD can be risky for both the mother and the baby. + +Mothers may have medical complications including: + +Infections + +Blood clots + +High blood pressure + +Increased pain episodes + +They are also at higher risk for: + +Miscarriages + +Premature births + +Small-for-dates babies or underweight babies + +(See pregnancy management.) + +Mental Health + +As in other chronic diseases, people with SCD may feel sad and frustrated at times. The limitations that SCD can impose on a persons daily activities may cause them to feel isolated from others. Sometimes they become depressed. + +People with SCD may also have trouble coping with pain and fatigue, as well as with frequent medical visits and hospitalizations. (See living with emotional issues.)",NHLBI,Sickle Cell Disease +How to diagnose Sickle Cell Disease ?,"Screening Tests + +People who do not know whether they make sickle hemoglobin (hemoglobin S) or another abnormal hemoglobin (such as C, thalassemia, E) can find out by having their blood tested. This way, they can learn whether they carry a gene (i.e., have the trait) for an abnormal hemoglobin that they could pass on to a child. + +When each parent has this information, he or she can be better informed about the chances of having a child with some type of sickle cell disease (SCD), such as hemoglobin SS, SC, S thalassemia, or others. + +Newborn Screening + +When a child has SCD, it is very important to diagnose it early to better prevent complications. + +Every state in the United States, the District of Columbia, and the U.S. territories require that every baby is tested for SCD as part of a newborn screening program. + +In newborn screening programs, blood from a heel prick is collected in spots on a special paper. The hemoglobin from this blood is then analyzed in special labs. + +Newborn screening results are sent to the doctor who ordered the test and to the childs primary doctor. + +If a baby is found to have SCD, health providers from a special follow-up newborn screening group contact the family directly to make sure that the parents know the results. The child is always retested to be sure that the diagnosis is correct. + +Newborn screening programs also find out whether the baby has an abnormal hemoglobin trait. If so, parents are informed, and counseling is offered. + +Remember that when a child has sickle cell trait or SCD, a future sibling, or the childs own future child, may be at risk. These possibilities should be discussed with the primary care doctor, a blood specialist called a hematologist, and/or a genetics counselor. + +Prenatal Screening + +Doctors can also diagnose SCD before a baby is born. This is done using a sample of amniotic fluid, the liquid in the sac surrounding a growing embryo, or tissue taken from the placenta, the organ that attaches the umbilical cord to the mothers womb. + +Testing before birth can be done as early as 810 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin.",NHLBI,Sickle Cell Disease +What are the treatments for Sickle Cell Disease ?,"Health Maintenance To Prevent Complications + +Babies with sickle cell disease (SCD) should be referred to a doctor or provider group that has experience taking care of people with this disease. The doctor might be a hematologist (a doctor with special training in blood diseases) or an experienced general pediatrician, internist, or family practitioner. + +For infants, the first SCD visit should take place before 8 weeks of age. + +If someone was born in a country that doesnt perform newborn SCD screening, he or she might be diagnosed with SCD later in childhood. These people should also be referred as soon as possible for special SCD care. + + + + + +Examining the person + +Giving medicines and immunizations + +Performing tests + +Educating families about the disease and what to watch out for + + + +Preventing Infection + +In SCD, the spleen doesnt work properly or doesnt work at all. This problem makes people with SCD more likely to get severe infections. + +Penicillin + +In children with SCD, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Infants need to take liquid penicillin. Older children can take tablets. + +Many doctors will stop prescribing penicillin after a child has reached the age of 5. Some prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS or hemoglobin S0 thalassemia, since people with SCD are still at risk. All people who have had surgical removal of the spleen, called a splenectomy, or a past infection with pneumococcus should keep taking penicillin throughout life. + +Immunizations + +People with SCD should receive all recommended childhood vaccines. They should also receive additional vaccines to prevent other infections. + +Pneumococcus. Even though all children routinely receive the vaccine against pneumococcus (PCV13), children with SCD should also receive a second kind of vaccine against pneumococcus (PPSV23). This second vaccine is given after 24 months of age and again 5 years later. Adults with SCD who have not received any pneumococcal vaccine should get a dose of the PCV13 vaccine. They should later receive the PPSV23 if they have not already received it or it has been more than 5 years since they did. A person should follow these guidelines even if he or she is still taking penicillin. + +Influenza. All people with SCD should receive an influenza shot every year at the start of flu season. This should begin at 6 months of age. Only the inactivated vaccine, which comes as a shot, should be used in people with SCD. + +Meningococcus. A child with SCD should receive this vaccine (Menactra or Menveo) at 2, 4, 6, and 1215 months of age. The child should receive a booster vaccine 3 years after this series of shots, then every 5 years after that. + +Screening Tests and Evaluations + +Height, Weight, Blood Pressure, and Oxygen Saturation + +Doctors will monitor height and weight to be sure that a child is growing properly and that a person with SCD is maintaining a healthy weight. + +Doctors will also track a persons blood pressure. When a person with SCD has high blood pressure, it needs to be treated promptly because it can increase the risk of stroke. + +Oxygen saturation testing provides information about how much oxygen the blood is carrying. + +Blood and Urine Testing + +People with SCD need to have frequent lab tests. + +Blood tests help to establish a persons baseline for problems like anemia. Blood testing also helps to show whether a person has organ damage, so that it can be treated early. + +Urine testing can help to detect early kidney problems or infections. + +Transcranial Doppler (TCD) Ultrasound Screening + +Children who have hemoglobin SS or hemoglobin S0 thalassemia and are between the ages of 2 and 16 should have TCD testing once a year. + +This study can find out whether a child is at higher risk for stroke. When the test is abnormal, regular blood transfusions can decrease the chances of having a stroke. + +The child is awake during the TCD exam. The test does not hurt at all. The TCD machine uses sound waves to measure blood flow like the ultrasound machine used to examine pregnant women. + +Eye Examinations + +An eye doctor, or ophthalmologist, should examine a persons eyes every 12 years from the age of 10 onwards. + +These exams can detect if there are SCD-related problems of the eye. Regular exams can help doctors find and treat problems early to prevent loss of vision. A person should see his or her doctor right away for any sudden change in vision. + +Pulmonary Hypertension + +Doctors have different approaches to screening for pulmonary hypertension. This is because studies have not given clear information as to when and how a person should receive the screening. People with SCD and their caretakers should discuss with their doctor whether screening makes sense for them. + +Cognitive Screening + +People with sickle cell disease can develop cognitive (thinking) problems that may be hard to notice early in life. + +Sometimes these problems are caused by silent strokes that can only be seen with magnetic resonance imaging (MRI) of the brain. + +People with SCD should tell their doctors or nurses if they have thinking problems, such as difficulties learning in school, slowed decision making, or trouble organizing their thoughts. + +People can be referred for cognitive testing. This testing can identify areas in which a person could use extra help. + +Children with SCD who have thinking problems may qualify for an Individualized Education Program, or IEP. An IEP is a plan that helps students to reach their educational goals. Adults may be able to enroll in vocational rehabilitation programs that can help them with job training. + +Education and Guidance + +Doctors and other providers will talk with people who have SCD and their caretakers about complications and also review information at every visit. + +Because there are a lot of things to discuss, new topics are often introduced as a child or adult reaches an age when that subject is important to know about. + +Doctors and nurses know that there is a lot of information to learn, and they dont expect people to know everything after one discussion. People with SCD and their families should not be afraid to ask questions. + +Topics that are usually covered include: + +Hours that medical staff are available and contact information to use when people with SCD or caretakers have questions + +A plan for what to do and where to get care if a person has a fever, pain, or other signs of SCD complications that need immediate attention + +How SCD is inherited and the risk of having a child with SCD + +The importance of regular medical visits, screening tests, and evaluations + +How to recognize and manage pain + +How to palpate (feel) a childs spleen. Because of the risk of splenic sequestration crisis, caretakers should learn how to palpate a childs spleen. They should try to feel for the spleen daily and more frequently when the child is ill. If they feel that the spleen is bigger than usual, they should call the care provider. + +Transitioning Care + +When children with SCD become adolescents or young adults, they often need to transition from a pediatric care team to an adult care team. This period has been shown to be associated with increased hospital admissions and medical problems. There seem to be many reasons for this. + +Some of the increased risk is directly related to the disease. As people with SCD get older, they often develop more organ damage and more disabilities. + +The shift in care usually occurs at the same time that adolescents are undergoing many changes in their emotional, social, and academic lives. The transition to more independent self-management may be difficult, and following treatment plans may become less likely. + +When compared with pediatrics, there are often fewer adult SCD programs available in a given region. This makes it more difficult for a person with SCD to find appropriate doctors, particularly those with whom they feel comfortable. + +To improve use of regular medical care by people with SCD and to reduce age-related complications, many SCD teams have developed special programs that the make transition easier. Such programs should involve the pediatric and the adult care teams. They should also start early and continue over several years. + +Managing Some Complications of SCD + +Acute Pain + +Each person with SCD should have a home treatment regimen that is best suited to their needs. The providers on the SCD team usually help a person develop a written, tailored care plan. If possible, the person with SCD should carry this plan with them when they go to the emergency room. + +When an acute crisis is just starting, most doctors will advise the person to drink lots of fluids and to take a non-steroidal anti-inflammatory (NSAID) pain medication, such as ibuprofen. When a person has kidney problems, acetaminophen is often preferred. + +If pain persists, many people will find that they need a stronger medicine. + +Combining additional interventions, such as massage, relaxation methods, or a heating pad, may also help. + +If a person with SCD cannot control the pain at home, he or she should go to an SCD day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids. + +Some people may be able to return home once their pain is under better control. In this case, the doctor may prescribe additional pain medicines for a short course of therapy. + +People often need to be admitted to the hospital to fully control an acute pain crisis. + +When taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes. + +Chronic Pain + +Sometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of the hip. In this case, doctors try to treat the complication causing the pain. + +While chronic pain is common in adults with SCD, the cause is often poorly understood. Taking pain medicines daily may help to decrease the pain. Some examples of these medicines include: + +NSAID drugs, such as ibuprofen + +Duloxetine + +Gabapentin + +Amitriptyline + +Strong pain medicines, such as opiates + +Other approaches, such as massage, heat, or acupuncture may be helpful in some cases. Chronic pain often comes with feelings of depression and anxiety. Supportive counseling and, sometimes, antidepressant medicines may help. (See coping and emotional issues.) + +Severe Anemia + +People should see their doctors or go to a hospital right away if they develop anemia symptoms from a splenic sequestration crisis or an aplastic crisis. These conditions can be life-threatening, and the person will need careful monitoring and treatment in the hospital. A person also usually needs a blood transfusion. + +People with SCD and symptoms of severe anemia from other causes should also see a doctor right away. + +Infections + +Fever is a medical emergency in SCD. All caretakers of infants and children with SCD should take their child to their doctor or go to a hospital right away when their child has a fever. Adults with SCD should also seek care for fever or other signs of infection. + +All children and adults who have SCD and a fever (over 38.50 C or 101.30 F) must be seen by a doctor and treated with antibiotics right away. + +Some people will need to be hospitalized, while others may receive care and follow-up as an outpatient. + +Acute Chest Syndrome + +People with SCD and symptoms of acute chest syndrome should see their doctor or go to a hospital right away. + +They will need to be admitted to the hospital where they should receive antibiotics and close monitoring. They may need oxygen therapy and a blood transfusion. + +When taken daily, the medicine hydroxyurea has been found to decrease the number and severity of acute chest events. + +Clinical Stroke + +People with SCD who have symptoms of stroke should be brought to the hospital right away by an ambulance. If a person is having symptoms of stroke, someone should call 9-1-1. + +Symptoms of stroke may include: + +Weakness of an arm or leg on one side of the body + +Trouble speaking, walking, or understanding + +Loss of balance + +Severe headache + +If imaging studies reveal that the person has had an acute stroke, he or she may need an exchange transfusion. This procedure involves slowly removing an amount of the persons blood and replacing it with blood from a donor who does not have SCD or sickle cell trait. Afterward, the person may need to receive monthly transfusions or other treatments to help to prevent another stroke. + +Silent Stroke and Cognitive Problems + +Children and adults with SCD and cognitive problems may be able to get useful help based upon the results of their testing. For instance, children may qualify for an IEP. Adults may be able to enroll in vocational, or job, training programs. + +Priapism + +Sometimes, a person may be able to relieve priapism by: + +Emptying the bladder by urinating + +Taking medicine + +Increasing fluid intake + +Doing light exercise + +If a person has an episode that lasts for 4 hours or more, he should go to the hospital to see a hematologist and urologist. + +Pregnancy + +Pregnant women with SCD are at greater risk for problems. They should always see an obstetrician, or OB, who has experience with SCD and high-risk pregnancies and deliveries. + +The obstetrician should work with a hematologist or primary medical doctor who is well informed about SCD and its complications. + +Pregnant women with SCD need more frequent medical visits so that their doctors can follow them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for the baby. + +A pregnant woman with SCD may need to have one or more blood transfusions during her pregnancy to treat complications, such as worsening anemia or an increased number of pain or acute chest syndrome events. + +Hydroxyurea + +What Is Hydroxyurea? + +Hydroxyurea is an oral medicine that has been shown to reduce or prevent several SCD complications. + +This medicine was studied in patients with SCD because it was known to increase the amount of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some protection against the effects of hemoglobin S. + +Hydroxyurea was later found to have several other benefits for a person with SCD, such as decreasing inflammation. + +Use in adults. Many studies of adults with hemoglobin SS or hemoglobin S thalassemia showed that hydroxyurea reduced the number of episodes of pain crises and acute chest syndrome. It also improved anemia and decreased the need for transfusions and hospital admissions. + +Use in children. Studies in children with severe hemoglobin SS or S thalassemia showed that hydroxyurea reduced the number of vaso-occlusive crises and hospitalizations. A study of very young children (between the ages of 9 and 18 months) with hemoglobin SS or hemoglobin S thalassemia also showed that hydroxyurea decreased the number of episodes of pain and dactylitis. + +Who Should Use Hydroxyurea? + +Since hydroxyurea can decrease several complications of SCD, most experts recommend that children and adults with hemoglobin SS or S0 thalassemia who have frequent painful episodes, recurrent chest crises, or severe anemia take hydroxyurea daily. + +Some experts offer hydroxyurea to all infants over 9 months of age and young children with hemoglobin SS or S0 thalassemia, even if they do not have severe clinical problems, to prevent or reduce the chance of complications. There is no information about how safe or effective hydroxyurea is in children under 9 months of age. + +Some experts will prescribe hydroxyurea to people with other types of SCD who have severe, recurrent pain. There is little information available about how effective hydroxyurea is for these types of SCD. + +In all situations, people with SCD should discuss with their doctors whether or not hydroxyurea is an appropriate medication for them. + +Pregnant women should not use hydroxyurea. + +How Is Hydroxyurea Taken? + +To work properly, hydroxyurea should be taken by mouth daily at the prescribed dose. When a person does not take it regularly, it will not work as well, or it wont work at all. + +A person with SCD who is taking hydroxyurea needs careful monitoring. This is particularly true in the early weeks of taking the medicine. Monitoring includes regular blood testing and dose adjustments. + +What Are the Risks of Hydroxyurea? + +Hydroxyurea can cause the bloods white cell count or platelet count to drop. In rare cases, it can worsen anemia. These side effects usually go away quickly if a person stops taking the medication. When a person restarts it, a doctor usually prescribes a lower dose. + +Other short-term side effects are less common. + +It is still unclear whether hydroxyurea can cause problems later in life in people with SCD who take it for many years. Studies so far suggest that it does not put people at a higher risk of cancer and does not affect growth in children. But further studies are needed. + +Red Blood Cell Transfusions + +Doctors may use acute and chronic red blood cell transfusions to treat and prevent certain SCD complications. The red blood cells in a transfusion have normal hemoglobin in them. + +A transfusion helps to raise the number of red blood cells and provides normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. These cells live longer in the circulation. Red blood cell transfusions decrease vaso-occlusion (blockage in the blood vessel) and improve oxygen delivery to the tissues and organs. + +Acute Transfusion in SCD + +Doctors use blood transfusions in SCD for complications that cause severe anemia. They may also use them when a person has an acute stroke, in many cases of acute chest crises, and in multi-organ failure. + +A person with SCD usually receives blood transfusions before surgery to prevent SCD-related complications afterwards. + +Chronic Transfusion + +Doctors recommend regular or ongoing blood transfusions for people who have had an acute stroke, since transfusions decrease the chances of having another stroke. + +Doctors also recommend chronic blood transfusions for children who have abnormal TCD ultrasound results because transfusions can reduce the chance of having a first stroke. + +Some doctors use this approach to treat complications that do not improve with hydroxyurea. They may also use transfusions in people who have too many side effects from hydroxyurea. + +What Are the Risks of Transfusion Therapy? + +Possible complications include: + +Hemolysis + +Iron overload, particularly in people receiving chronic transfusions (can severely impair heart and lung function) + +Infection + +Alloimmunization (can make it hard to find a matching unit of blood for a future transfusion) + +All blood banks and hospital personnel have adopted practices to reduce the risk of transfusion problems. + +People with SCD who receive transfusions should be monitored for and immunized against hepatitis. They should also receive regular screenings for iron overload. If a person has iron overload, the doctor will give chelation therapy, a medicine to reduce the amount of iron in the body and the problems that iron overload causes. + + + +Hematopoietic Stem Cell Transplantation + +At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. People with SCD and their families should ask their doctor about this procedure. + +What Are Stem Cells? + +Stem cells are special cells that can divide over and over again. After they divide, these cells can go on to become blood red cells, white cells, or platelets. + +A person with SCD has stem cells that make red blood cells that can sickle. People without SCD have stem cells that make red cells that usually wont sickle. + +What Stem Cells Are Used in HSCT? + +In HSCT, stem cells are taken from the bone marrow or blood of a person who does not have sickle cell disease (the donor). The donor, however, may have sickle cell trait. + +The donor is often the persons sister or brother. This is because the safest and most successful transplants use stem cells that are matched for special proteins called HLA antigens. Since these antigens are inherited from parents, a sister or brother is the most likely person to have the same antigens as the person with SCD. + +What Happens During HSCT? + +First, stem cells are taken from the donor. After this, the person with SCD (the recipient) is treated with drugs that destroy or reduce his or her own bone marrow stem cells. + +The donor stem cells are then injected into the persons vein. The injected cells will make a home in the recipients bone marrow, gradually replacing the recipients cells. The new stem cells will make red cells that do not sickle. + +Which People Receive HSCT? + +At the present time, most SCD transplants are performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. These transplants usually use a matched donor. + +Because only about 1 in 10 children with SCD has a matched donor without SCD in their families, the number of people with SCD who get transplants is low. + +HSCT is more risky in adults, and that is why most transplants are done in children. + +There are several medical centers that are researching new SCD HSCT techniques in children and adults who dont have a matched donor in the family or are older than most recipients. Hopefully, more people with SCD will be able to receive a transplant in the future, using these new methods. + +What Are the Risks? + +HSCT is successful in about 85 percent of children when the donor is related and HLA matched. Even with this high success rate, HSCT still has risks. + +Complications can include severe infections, seizures, and other clinical problems. About 5 percent of people have died. Sometimes transplanted cells attack the recipients organs (graft versus host disease). + +Medicines are given to prevent many of the complications, but they still can happen.",NHLBI,Sickle Cell Disease +How to prevent Sickle Cell Disease ?,"People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested. + +Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) may want to meet with a genetics counselor. A genetics counselor can answer questions about the risk and explain the choices that are available.",NHLBI,Sickle Cell Disease +What is (are) Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases. + +Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe. + +A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases. + +Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood. + +A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin. + +This article focuses on AAT deficiency as it relates to lung disease. + +Overview + +Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Normally, the protein travels through the bloodstream. It helps protect the body's organs from the harmful effects of other proteins. The lungs are one of the main organs that the AAT protein protects. + +AAT deficiency occurs if the AAT proteins made in the liver aren't the right shape. They get stuck inside liver cells and can't get into the bloodstream. + +As a result, not enough AAT proteins travel to the lungs to protect them. This increases the risk of lung disease. Also, because too many AAT proteins are stuck in the liver, liver disease can develop. + +Severe AAT deficiency occurs if blood levels of the AAT protein fall below the lowest amount needed to protect the lungs. + +AAT deficiency is an inherited condition. ""Inherited"" means it's passed from parents to children through genes. + +Doctors don't know how many people have AAT deficiency. Many people who have the condition may not know they have it. Estimates of how many people have AAT deficiency range from about 1 in every 1,600 people to about 1 in every 5,000 people. + +Outlook + +People who have AAT deficiency may not have serious complications, and they may live close to a normal lifespan. + +Among people with AAT deficiency who have a related lung or liver disease, about 3percent die each year. + +Smoking is the leading risk factor for life-threatening lung disease if you have AAT deficiency. Smoking or exposure to tobacco smoke increases the risk of earlier lung-related symptoms and lung damage. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years. + +AAT deficiency has no cure, but treatments are available. Treatments often are based on the type of disease you develop.",NHLBI,Alpha-1 Antitrypsin Deficiency +What causes Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin (AAT) deficiency is an inherited disease. ""Inherited"" means it's passed from parents to children through genes. + +Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins. + +In AAT deficiency, the AAT proteins made in the liver aren't the right shape. Thus, they get stuck in the liver cells. The proteins can't get to the organs in the body that they protect, such as the lungs. Without the AAT proteins protecting the organs, diseases can develop. + +The most common faulty gene that can cause AAT deficiency is called PiZ. If you inherit two PiZ genes (one from each parent), you'll have AAT deficiency. + +If you inherit a PiZ gene from one parent and a normal AAT gene from the other parent, you won't have AAT deficiency. However, you might pass the PiZ gene to your children. + +Even if you inherit two faulty AAT genes, you may not have any related complications. You may never even realize that you have AAT deficiency.",NHLBI,Alpha-1 Antitrypsin Deficiency +Who is at risk for Alpha-1 Antitrypsin Deficiency? ?,"Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent. + +AAT deficiency is an inherited condition. ""Inherited"" means the condition is passed from parents to children through genes. + +If you have bloodline relatives with known AAT deficiency, you're at increased risk for the condition. Even so, it doesn't mean that you'll develop one of the diseases related to the condition. + +Some risk factors make it more likely that you'll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk for lung disease also may go up if you're exposed to dust, fumes, or other toxic substances.",NHLBI,Alpha-1 Antitrypsin Deficiency +What are the symptoms of Alpha-1 Antitrypsin Deficiency ?,"The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40. + +Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss. + +Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough. + +At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.",NHLBI,Alpha-1 Antitrypsin Deficiency +How to diagnose Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition. + +Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. He or she also may suspect AAT deficiency if you develop emphysema when you're 45 years old or younger. + +Specialists Involved + +Many doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists (lung specialists), and hepatologists (liver specialists). + +To diagnose AAT deficiency, your doctor will: + +Ask about possible risk factors. Risk factors include smoking and exposure to dust, fumes, and other toxic substances. + +Ask about your medical history. A common sign of AAT deficiency is if you have a lung or liver disease without any obvious causes or risk factors. Another sign is if you have emphysema at an unusually early age (45 years or younger). + +Ask about your family's medical history. If you have bloodline relatives who have AAT deficiency, you're more likely to have the condition. + +Diagnostic Tests + +Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions. + +A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have faulty AAT genes. + +A blood test also may be used. This test checks the level of AAT protein in your blood. If the level is a lot lower than normal, it's likely that you have AAT deficiency. + +Lung-Related Tests + +If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography (to-MOG-rah-fee) scanning, also called CT scanning. + +Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working. + +High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung disease and how severe it is.",NHLBI,Alpha-1 Antitrypsin Deficiency +What are the treatments for Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease). + +If you have symptoms related to AAT deficiency, your doctor may recommend: + +Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD. + +Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs. + +Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best. + +Extra oxygen, if needed. + +A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it. + +Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs. + +Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease. + +People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases. + +Future Treatments + +Researchers are working on possible treatments that will target the faulty AAT genes and replace them with healthy genes. These treatments are in the early stages of development. + +Researchers also are studying therapies that will help misshapen AAT proteins move from the liver into the bloodstream. They're also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein. + +If you're interested in new treatments, ask your doctor about ongoing clinical trials for AAT deficiency.",NHLBI,Alpha-1 Antitrypsin Deficiency +How to prevent Alpha-1 Antitrypsin Deficiency ?,"You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes). + +If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition. + +You can take steps to prevent or delay lung diseases related to AAT deficiency. One important step is to quit smoking. If you don't smoke, don't start. + +Talk with your doctor about programs and products that can help you quit smoking. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart."" Although these resources focus on heart health, they include basic information about how to quit smoking. + +Also, try to avoid secondhand smoke and places with dust, fumes, or other toxic substances that you may inhale. + +Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items. + +If you have a lung disease related to AAT deficiency, ask your doctor whether you might benefit from augmentation therapy. This is a treatment in which you receive infusions of AAT protein. + +Augmentation therapy raises the level of AAT protein in your blood and lungs. (For more information, go to ""How Is Alpha-1 Antitrypsin Deficiency Treated?"")",NHLBI,Alpha-1 Antitrypsin Deficiency +What is (are) Primary Ciliary Dyskinesia ?,"Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah). + +Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles. + +If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth. + +Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. ""Fertility"" refers to the ability to have children. + +Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.) + +Overview + +PCD is an inherited disease. ""Inherited"" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved. + +Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. + +No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease. + +If a child inherits a faulty gene (or genes) from only one parent, he or she may be a ""PCD carrier."" Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children. + +The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. + +The symptoms and severity of PCD also vary over time. Sometimes you may have few symptoms. Other times, your symptoms may become more severe. + +Some people who have PCD have a condition called situs inversus (SI-tus in-VER-sus). This is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are. + +A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay lung damage. + +Outlook + +Many people who have PCD have normal lifespans. However, about 25 percent of people who have the disease may develop respiratory failure, a life-threatening condition. A small number of people who have PCD need lung transplants. + +Scientists continue to study the faulty genes that cause PCD. Further studies of the disease will likely lead to earlier diagnoses, better treatments, and improved outcomes.",NHLBI,Primary Ciliary Dyskinesia +What causes Primary Ciliary Dyskinesia ?,"Primary ciliary dyskinesia (PCD) is a rare, inherited disease. ""Inherited"" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved. + +Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Cilia are tiny, hair-like structures that line the airways. + +The airways include your nose and linked air passages; mouth; larynx (LAR-ingks), or voice box; trachea (TRA-ke-ah), or windpipe; and tubes called bronchial tubes or bronchi, and their branches. + +Cilia move mucus (a slimy substance) through your airways and toward your mouth to be coughed or sneezed out of your body. The mucus contains inhaled dust, bacteria, and other small particles. + +Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. + +Primary Ciliary Dyskinesia + + + +No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease. + +If a child inherits a faulty gene (or genes) from only one parent, he or she may be a ""PCD carrier."" Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children.",NHLBI,Primary Ciliary Dyskinesia +Who is at risk for Primary Ciliary Dyskinesia? ?,"Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups. + +Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without knowing that they have the disease.",NHLBI,Primary Ciliary Dyskinesia +What are the symptoms of Primary Ciliary Dyskinesia ?,"Primary ciliary dyskinesia (PCD) mainly affects the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections in one or more of these areas. Common signs, symptoms, and complications linked to PCD include the following: + +Sinuses: - Chronic nasal congestion - Runny nose with mucus and pus discharge - Chronic sinus infections + +Chronic nasal congestion + +Runny nose with mucus and pus discharge + +Chronic sinus infections + +Ears: - Chronic middle ear infections - Hearing loss + +Chronic middle ear infections + +Hearing loss + +Lungs: - Respiratory distress (breathing problems) in newborns - Chronic cough - Recurrent pneumonia - Collapse of part or all of a lung + +Respiratory distress (breathing problems) in newborns + +Chronic cough + +Recurrent pneumonia + +Collapse of part or all of a lung + +PCD also can cause fertility problems in men and women. ""Fertility"" refers to the ability to have children. In men, PCD can affect cilia-like structures that help sperm cells move. Because the sperm cells don't move well, men who have the disease usually are unable to father children. + +Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.) + +About half of all people who have PCD have Kartagener's syndrome. This syndrome involves three disorders: chronic sinusitis (si-nu-SI-tis), bronchiectasis (brong-ke-EK-tah-sis), and situs inversus. + +Chronic sinusitis is a condition in which the sinuses are infected or inflamed. The sinuses are hollow air spaces around the nasal passages. + +Bronchiectasis is a condition in which damage to the airways causes them to widen and become flabby and scarred. + +Situs inversus is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are. + +Situs inversus can occur without PCD. In fact, only 25 percent of people who have the condition also have PCD. By itself, situs inversus may not affect your health. However, in PCD, it's a sign of Kartagener's syndrome. + +Some people who have PCD have abnormally placed organs and congenital heart defects. + +When Do Symptoms Occur? + +The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. + +The symptoms and severity of PCD also vary over time. Sometimes, you may have few symptoms. Other times, your symptoms may become more severe. + +Some people who have PCD have breathing problems when they're born and need extra oxygen for several days. Afterward, airway infections are common. + +Diagnosing PCD in children can be hard. This is because some PCD symptomssuch as ear infections, chronic cough, and runny noseare common in children, even if they don't have PCD. Also, the disease may be confused with another condition, such as cystic fibrosis. + +A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay ongoing and long-term lung damage.",NHLBI,Primary Ciliary Dyskinesia +How to diagnose Primary Ciliary Dyskinesia ?,"Your doctor or your child's doctor will diagnose primary ciliary dyskinesia (PCD) based on signs and symptoms and test results. + +If your primary care doctor thinks that you may have PCD or another lung disorder, he or she may refer you to a pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases and conditions. + +Signs and Symptoms + +Your doctor will look for signs and symptoms that point to PCD, such as: + +Respiratory distress (breathing problems) at birth + +Chronic sinus, middle ear, and/or lung infections + +Situs inversus (internal organs in positions opposite of what is normal) + +For more information, go to ""What Are the Signs and Symptoms of Primary Ciliary Dyskinesia?"" + +Your doctor also may ask whether you have a family history of PCD. PCD is an inherited disease. ""Inherited"" means the disease is passed from parents to children through genes. A family history of PCD suggests an increased risk for the disease. + +Diagnostic Tests + +If the doctor thinks that you or your child might have PCD, he or she may recommend tests to confirm the diagnosis. + +Genetic Testing + +Researchers have found many gene defects associated with PCD. Genetic testing can show whether you have faulty genes linked to the disease. + +Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a special genetic testing laboratory (lab). + +Electron Microscopy + +Doctors can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether your cilia are faulty. + +An ear, nose, and throat (ENT) specialist or a pulmonologist (lung specialist) will take samples of your cilia. He or she will brush the inside of your nose or remove some cells from your airways. + +The doctor will send the samples to a lab. There, a pathologist will look at them under an electron microscope. (A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope.) + +Other Tests + +Sometimes doctors use one or more of the following tests to help diagnose PCD. These tests are less complex than genetic testing and electron microscopy, and they can be done in a doctor's office. + +However, these tests don't give a final diagnosis. Based on the test results, doctors may recommend the more complex tests. + +Video microscopy. For this test, a pulmonologist brushes the inside of your nose to get a sample of cilia. Then, he or she looks at the cilia under a microscope to see how they move. Abnormal movement of the cilia may be a sign of PCD. + +Radiolabeled particles. For this test, you breathe in tiny particles that have a small amount of radiation attached to them. When you breathe out, your doctor will test how well your cilia can move the particles. + +If you breathe out a smaller than normal number of particles, your cilia may not be working well. This could be a sign of PCD. + +Nasal nitric oxide. This test measures the level of nitric oxide (a gas) when you breathe out. In people who have PCD, the level of nitric oxide is very low compared with normal levels. Doctors don't know why people who have PCD breathe out such low levels of nitric oxide. + +Semen analysis. This test is used for adult men. In men, PCD can affect cilia-like structures that help sperm cells move. As a result, men who have PCD may have fertility problems. (""Fertility"" refers to the ability to have children.) + +For this test, a sample of semen is checked under a microscope. Abnormal sperm may be a sign of PCD. + +Tests for other conditions. Your doctor also might want to do tests to rule out diseases and disorders that have symptoms similar to those of PCD. For example, you may have tests to rule out cystic fibrosis or immune disorders.",NHLBI,Primary Ciliary Dyskinesia +What are the treatments for Primary Ciliary Dyskinesia ?,"Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have. + +The main goals of treating PCD are to: + +Control and treat lung, sinus, and ear infections + +Remove trapped mucus from the lungs and airways + +Specialists Involved + +Many doctors may help care for someone who has PCD. For example, a neonatologist may suspect PCD or another lung disorder if a newborn has breathing problems at birth. A neonatologist is a doctor who specializes in treating newborns. + +A pediatrician may suspect PCD if a child has chronic (ongoing) sinus, ear, and/or lung infections. A pediatrician is a doctor who specializes in treating children. This type of doctor provides children with ongoing care from an early age and treats conditions such as ear infections and breathing problems. + +An otolaryngologist also may help diagnose and treat PCD. This type of doctor treats ear, nose, and throat disorders and also is called an ear, nose, and throat (ENT) specialist. If a child has chronic sinus or ear infections, an ENT specialist may be involved in the child's care. + +A pulmonologist may help diagnose or treat lung problems related to PCD. This type of doctor specializes in diagnosing and treating lung diseases and conditions. Most people who have PCD have lung problems at some point in their lives. + +A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. This type of doctor may help diagnose PCD by looking at cilia under a microscope. + +A pathologist also may look at mucus samples to see what types of bacteria are causing infections. This information can help your doctor decide which treatments to prescribe. + +Treatments for Breathing and Lung Problems + +Standard treatments for breathing and lung problems in people who have PCD are chest physical therapy (CPT), exercise, and medicines. + +One of the main goals of these treatments is to get you to cough. Coughing clears mucus from the airways, which is important for people who have PCD. For this reason, your doctor also may advise you to avoid medicines that suppress coughing. + +Chest Physical Therapy + +CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. + +You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs. + +Some people find CPT hard or uncomfortable to do. Several devices have been made to help with CPT, such as: + +An electric chest clapper, known as a mechanical percussor. + +An inflatable therapy vest that uses high-frequency airwaves. The airwaves force the mucus that's deep in your lungs toward your upper airways so you can cough it up. + +A small hand-held device that you breathe out through. The device causes vibrations that dislodge the mucus. + +A mask that creates vibrations to help break the mucus loose from your airway walls. + +Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways. + +Exercise + +Aerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition. + +Talk with your doctor about what types and amounts of exercise are safe for you or your child. + +Medicines + +If you have PCD, your doctor may prescribe antibiotics, bronchodilators, or anti-inflammatory medicines. These medicines help treat lung infections, open up the airways, and reduce swelling. + +Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral or intravenous (IV) antibiotics. + +Oral antibiotics often are used to treat mild lung infections. For severe or hard-to-treat infections, you may be given IV antibiotics through a tube inserted into a vein. + +To help decide which antibiotics you need, your doctor may send mucus samples to a pathologist. The pathologist will try to find out which bacteria are causing the infection. + +Bronchodilators help open the airways by relaxing the muscles around them. You inhale these medicines. Often, they're taken just before CPT to help clear mucus from your lungs. You also may take bronchodilators before inhaling other medicines into your lungs. + +Anti-inflammatory medicines can help reduce swelling in your airways that's caused by ongoing infections. These medicines may be inhaled or oral. + +Treatments for Sinus and Ear Infections + +To treat infections, your doctor may recommend saline nasal washes and anti-inflammatory nasal spray. If these treatments aren't enough, you may need medicines, such as antibiotics. If antibiotics don't work, surgery may be an option. + +Tympanostomy (tim-pan-OS-toe-me) is a procedure in which small tubes are inserted into the eardrums to help drain mucus from the ears. This procedure may help children who have hearing problems caused by PCD. + +Nasal or sinus surgery may help drain the sinuses and provide short-term relief of symptoms. However, the long-term benefits of this treatment are unclear. + +Treatments for Advanced Lung Disease + +People who have PCD may develop a serious lung condition called bronchiectasis. This condition often is treated with medicines, hydration (drinking plenty of fluids), and CPT. + +If bronchiectasis severely affects part of your lung, surgery may be used to remove that area of lung. + +In very rare cases, if other treatments haven't worked, lung transplant may be an option for severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.",NHLBI,Primary Ciliary Dyskinesia +What is (are) Pulmonary Embolism ?,"Pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE, is a sudden blockage in a lung artery. The blockage usually is caused by a blood clot that travels to the lung from a vein in the leg. + +A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus (EM-bo-lus). + +PE is a serious condition that can: + +Damage part of your lung because of a lack of blood flow to your lung tissue. This damage may lead to pulmonary hypertension (increased pressure in the pulmonary arteries). + +Cause low oxygen levels in your blood. + +Damage other organs in your body because of a lack of oxygen. + +If a blood clot is large, or if there are many clots, PE can cause death. + +Overview + +PE most often is a complication of a condition called deep vein thrombosis (DVT). In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery. + +Deep vein clots are not like clots in veins close to the skin's surface. Those clots remain in place and do not cause PE. + +Outlook + +The exact number of people affected by DVT and PE isn't known. Estimates suggest these conditions affect 300,000 to 600,000 people in the United States each year. + +If left untreated, about 30 percent of patients who have PE will die. Most of those who die do so within the first few hours of the event. + +The good news is that a prompt diagnosis and proper treatment can save lives and help prevent the complications of PE.",NHLBI,Pulmonary Embolism +What causes Pulmonary Embolism ?,"Major Causes + +Pulmonary embolism (PE) usually begins as a blood clot in a deep vein of the leg. This condition is called deep vein thrombosis. The clot can break free, travel through the bloodstream to the lungs, and block an artery. + +The animation below shows how a blood clot from a deep vein in the leg can travel to the lungs, causing pulmonary embolism. Click the ""start"" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. + + + + + +Blood clots can form in the deep veins of the legs if blood flow is restricted and slows down. This can happen if you don't move around for long periods, such as: + +After some types of surgery + +During a long trip in a car or airplane + +If you must stay in bed for an extended time + +Blood clots are more likely to develop in veins damaged from surgery or injured in other ways. + +Other Causes + +Rarely, an air bubble, part of a tumor, or other tissue travels to the lungs and causes PE. Also, if a large bone in the body (such as the thigh bone) breaks, fat from the bone marrow can travel through the blood. If the fat reaches the lungs, it can cause PE",NHLBI,Pulmonary Embolism +Who is at risk for Pulmonary Embolism? ?,"Pulmonary embolism (PE) occurs equally in men and women. The risk increases with age. For every 10 years after age 60, the risk of having PE doubles. + +Certain inherited conditions, such as factor V Leiden, increase the risk of blood clotting and PE. + +Major Risk Factors + +Your risk for PE is high if you have deep vein thrombosis (DVT) or a history of DVT. In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery. + +Your risk for PE also is high if you've had the condition before. + +Other Risk Factors + +Other factors also can increase the risk for PE, such as: + +Being bedridden or unable to move around much + +Having surgery or breaking a bone (the risk goes up in the weeks following the surgery or injury) + +Having certain diseases or conditions, such as a stroke, paralysis (an inability to move), chronic heart disease, or high blood pressure + +Smoking + +People who have recently been treated for cancer or who have a central venous catheter are more likely to develop DVT, which increases their risk for PE. A central venous catheter is a tube placed in a vein to allow easy access to the bloodstream for medical treatment. + +Other risk factors for DVT include sitting for long periods (such as during long car or airplane rides), pregnancy and the 6-week period after pregnancy, and being overweight or obese. Women who take hormone therapy pills or birth control pills also are at increased risk for DVT. + +The risk of developing blood clots increases as your number of risk factors increases.",NHLBI,Pulmonary Embolism +What are the symptoms of Pulmonary Embolism ?,"Major Signs and Symptoms + +Signs and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE. + +Sometimes the only signs and symptoms are related to deep vein thrombosis (DVT). These include swelling of the leg or along a vein in the leg, pain or tenderness in the leg, a feeling of increased warmth in the area of the leg that's swollen or tender, and red or discolored skin on the affected leg. + +See your doctor right away if you have any signs or symptoms of PE or DVT. It's also possible to have PE and not have any signs or symptoms. + +Other Signs and Symptoms + +Some people who have PE have feelings of anxiety or dread, light-headedness or fainting, rapid breathing, sweating, or an increased heart rate.",NHLBI,Pulmonary Embolism +How to diagnose Pulmonary Embolism ?,"Pulmonary embolism (PE) is diagnosed based on your medical history, a physical exam, and test results. + +Doctors who treat patients in the emergency room often are the ones to diagnose PE with the help of a radiologist. A radiologist is a doctor who deals with x rays and other similar tests. + +Medical History and Physical Exam + +To diagnose PE, the doctor will ask about your medical history. He or she will want to: + +Find out your deep vein thrombosis (DVT) and PE risk factors + +See how likely it is that you could have PE + +Rule out other possible causes for your symptoms + +Your doctor also will do a physical exam. During the exam, he or she will check your legs for signs of DVT. He or she also will check your blood pressure and your heart and lungs. + +Diagnostic Tests + +Many tests can help diagnose PE. Which tests you have will depend on how you feel when you get to the hospital, your risk factors, available testing options, and other conditions you could possibly have. You may have one or more of the following tests. + +Ultrasound + +Doctors can use ultrasound to look for blood clots in your legs. Ultrasound uses sound waves to check blood flow in your veins. + +For this test, gel is put on the skin of your legs. A hand-held device called a transducer is moved back and forth over the affected areas. The transducer gives off ultrasound waves and detects their echoes as they bounce off the vein walls and blood cells. + +A computer turns the echoes into a picture on a computer screen, allowing the doctor to see blood flow in your legs. If the doctor finds blood clots in the deep veins of your legs, he or she will recommend treatment. + +DVT and PE both are treated with the same medicines. + +Computed Tomography Scans + +Doctors can use computed tomography (to-MOG-rah-fee) scans, or CT scans, to look for blood clots in the lungs and legs. + +For this test, dye is injected into a vein in your arm. The dye makes the blood vessels in your lungs and legs show up on x-ray images. You'll lie on a table, and an x-ray tube will rotate around you. The tube will take pictures from many angles. + +This test allows doctors to detect most cases of PE. The test only takes a few minutes. Results are available shortly after the scan is done. + +Lung Ventilation/Perfusion Scan + +A lung ventilation/perfusion scan, or VQ scan, uses a radioactive substance to show how well oxygen and blood are flowing to all areas of your lungs. This test can help detect PE. + +Pulmonary Angiography + +Pulmonary angiography (an-jee-OG-rah-fee) is another test used to diagnose PE. This test isn't available at all hospitals, and a trained specialist must do the test. + +For this test, a flexible tube called a catheter is threaded through the groin (upper thigh) or arm to the blood vessels in the lungs. Dye is injected into the blood vessels through the catheter. + +X-ray pictures are taken to show blood flowing through the blood vessels in the lungs. If a blood clot is found, your doctor may use the catheter to remove it or deliver medicine to dissolve it. + +Blood Tests + +Certain blood tests may help your doctor find out whether you're likely to have PE. + +A D-dimer test measures a substance in the blood that's released when a blood clot breaks down. High levels of the substance may mean a clot is present. If your test is normal and you have few risk factors, PE isn't likely. + +Other blood tests check for inherited disorders that cause blood clots. Blood tests also can measure the amount of oxygen and carbon dioxide in your blood. A clot in a blood vessel in your lungs may lower the level of oxygen in your blood. + +Other Tests + +To rule out other possible causes of your symptoms, your doctor may use one or more of the following tests. + +Echocardiography (echo). This test uses sound waves to create a moving picture of your heart. Doctors use echo to check heart function and detect blood clots inside the heart. + +EKG (electrocardiogram). An EKG is a simple, painless test that detects and records the heart's electrical activity. + +Chest x ray. This test creates pictures of your lungs, heart, large arteries, ribs, and diaphragm (the muscle below your lungs). + +Chest MRI (magnetic resonance imaging). This test uses radio waves and magnetic fields to create pictures of organs and structures inside the body. MRI often can provide more information than an x ray.",NHLBI,Pulmonary Embolism +What are the treatments for Pulmonary Embolism ?,"Pulmonary embolism (PE) is treated with medicines, procedures, and other therapies. The main goals of treating PE are to stop the blood clot from getting bigger and keep new clots from forming. + +Treatment may include medicines to thin the blood and slow its ability to clot. If your symptoms are life threatening, your doctor may give you medicine to quickly dissolve the clot. Rarely, your doctor may use surgery or another procedure to remove the clot. + +Medicines + +Anticoagulants (AN-te-ko-AG-u-lants), or blood thinners, decrease your blood's ability to clot. They're used to stop blood clots from getting larger and prevent clots from forming. Blood thinners don't break up blood clots that have already formed. (The body dissolves most clots with time.) + +You can take blood thinners as either a pill, an injection, or through a needle or tube inserted into a vein (called intravenous, or IV, injection). Warfarin is given as a pill. (Coumadin is a common brand name for warfarin.) Heparin is given as an injection or through an IV tube. + +Your doctor may treat you with both heparin and warfarin at the same time. Heparin acts quickly. Warfarin takes 2 to 3 days before it starts to work. Once warfarin starts to work, heparin usually is stopped. + +Pregnant women usually are treated with heparin only, because warfarin is dangerous for the pregnancy. + +If you have deep vein thrombosis, treatment with blood thinners usually lasts for 3 to 6months. If you've had blood clots before, you may need a longer period of treatment. If you're being treated for another illness, such as cancer, you may need to take blood thinners as long as PE risk factors are present. + +The most common side effect of blood thinners is bleeding. This can happen if the medicine thins your blood too much. This side effect can be life threatening. + +Sometimes the bleeding is internal, which is why people treated with blood thinners usually have routine blood tests. These tests, called PT and PTT tests, measure the blood's ability to clot. These tests also help your doctor make sure you're taking the right amount of medicine. Call your doctor right away if you're bruising or bleeding easily. + +Thrombin inhibitors are a newer type of blood-thinning medicine. They're used to treat some types of blood clots in people who can't take heparin. + +Emergency Treatment + +When PE is life threatening, a doctor may use treatments that remove or break up the blood clot. These treatments are given in an emergency room or hospital. + +Thrombolytics (THROM-bo-LIT-iks) are medicines that can quickly dissolve a blood clot. They're used to treat large clots that cause severe symptoms. Because thrombolytics can cause sudden bleeding, they're used only in life-threatening situations. + +Sometimes a doctor may use a catheter (a flexible tube) to reach the blood clot. The catheter is inserted into a vein in the groin (upper thigh) or arm and threaded to the clot in the lung. The doctor may use the catheter to remove the clot or deliver medicine to dissolve it. + +Rarely, surgery may be needed to remove the blood clot. + +Other Types of Treatment + +If you can't take medicines to thin your blood, or if the medicines don't work, your doctor may suggest a vena cava filter. This device keeps blood clots from traveling to your lungs. + +The filter is inserted inside a large vein called the inferior vena cava. (This vein carries blood from the body back to the heart). The filter catches clots before they travel to the lungs. This type of treatment can prevent PE, but it won't stop other blood clots from forming. + +Graduated compression stockings can reduce the chronic (ongoing) swelling that a blood clot in the leg may cause. + +Graduated compression stockings are worn on the legs from the arch of the foot to just above or below the knee. These stockings are tight at the ankle and become looser as they go up the leg. This causes gentle compression (pressure) up the leg. The pressure keeps blood from pooling and clotting.",NHLBI,Pulmonary Embolism +How to prevent Pulmonary Embolism ?,"Preventing pulmonary embolism (PE) begins with preventing deep vein thrombosis (DVT). Knowing whether you're at risk for DVT and taking steps to lower your risk are important. + +Exercise your lower leg muscles if you're sitting for a long time while traveling. + +Get out of bed and move around as soon as you're able after having surgery or being ill. The sooner you move around, the better your chance is of avoiding a blood clot. + +Take medicines to prevent clots after some types of surgery (as your doctor prescribes). + +Follow up with your doctor. + +If you've already had DVT or PE, you can take more steps to prevent new blood clots from forming. Visit your doctor for regular checkups. Also, use compression stockings to prevent chronic (ongoing) swelling in your legs from DVT (as your doctor advises). + +Contact your doctor right away if you have any signs or symptoms of DVT or PE.",NHLBI,Pulmonary Embolism +What is (are) Sleep Apnea ?,"Espaol + +Sleep apnea (AP-ne-ah) is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. + +Breathing pauses can last from a few seconds to minutes. They may occur 30times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound. + +Sleep apnea usually is a chronic (ongoing) condition that disrupts your sleep. When your breathing pauses or becomes shallow, youll often move out of deep sleep and into light sleep. + +As a result, the quality of your sleep is poor, which makes you tired during the day. Sleep apnea is a leading cause of excessive daytime sleepiness. + +Overview + +Sleep apnea often goes undiagnosed. Doctors usually can't detect the condition during routine office visits. Also, no blood test can help diagnose the condition. + +Most people who have sleep apnea don't know they have it because it only occurs during sleep. A family member or bed partner might be the first to notice signs of sleep apnea. + +The most common type of sleep apnea is obstructive sleep apnea. In this condition, the airway collapses or becomes blocked during sleep. This causes shallow breathing or breathing pauses. + +When you try to breathe, any air that squeezes past the blockage can cause loud snoring. Obstructive sleep apnea is more common in people who are overweight, but it can affect anyone. For example, small children who have enlarged tonsil tissues in their throats may have obstructive sleep apnea. + +The animation below shows how obstructive sleep apnea occurs. Click the ""start"" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. + + + + + +The animation shows how the airway can collapse and block air flow to the lungs, causing sleep apnea. + +Central sleep apnea is a less common type of sleep apnea. This disorder occurs if the area of your brain that controls your breathing doesn't send the correct signals to your breathing muscles. As a result, you'll make no effort to breathe for brief periods. + +Central sleep apnea can affect anyone. However, it's more common in people who have certain medical conditions or use certain medicines. + +Central sleep apnea can occur with obstructive sleep apnea or alone. Snoring typically doesn't happen with central sleep apnea. + +This article mainly focuses on obstructive sleep apnea. + +Outlook + +Untreated sleep apnea can: + +Increase the risk of high blood pressure, heart attack, stroke, obesity, and diabetes + +Increase the risk of, or worsen, heart failure + +Make arrhythmias (ah-RITH-me-ahs), or irregular heartbeats, more likely + +Increase the chance of having work-related or driving accidents + +Sleep apnea is a chronic condition that requires long-term management. Lifestyle changes, mouthpieces, surgery, and breathing devices can successfully treat sleep apnea in many people.",NHLBI,Sleep Apnea +What causes Sleep Apnea ?,"When you're awake, throat muscles help keep your airway stiff and open so air can flow into your lungs. When you sleep, these muscles relax, which narrows your throat. + +Normally, this narrowing doesnt prevent air from flowing into and out of your lungs. But if you have sleep apnea, your airway can become partially or fully blocked because: + +Your throat muscles and tongue relax more than normal. + +Your tongue and tonsils (tissue masses in the back of your mouth) are large compared with the opening into your windpipe. + +You're overweight. The extra soft fat tissue can thicken the wall of the windpipe. This narrows the inside of the windpipe, which makes it harder to keep open. + +The shape of your head and neck (bony structure) may cause a smaller airway size in the mouth and throat area. + +The aging process limits your brain signals' ability to keep your throat muscles stiff during sleep. Thus, your airway is more likely to narrow or collapse. + +Not enough air flows into your lungs if your airway is partially or fully blocked during sleep. As a result, loud snoring and a drop in your blood oxygen level can occur. + +If the oxygen drops to a dangerous level, it triggers your brain to disturb your sleep. This helps tighten the upper airway muscles and open your windpipe. Normal breathing then starts again, often with a loud snort or choking sound. + +Frequent drops in your blood oxygen level and reduced sleep quality can trigger the release of stress hormones. These hormones raise your heart rate and increase your risk for high blood pressure, heart attack, stroke, and arrhythmias (irregular heartbeats). The hormones also can raise your risk for, or worsen, heart failure. + +Untreated sleep apnea also can lead to changes in how your body uses energy. These changes increase your risk for obesity and diabetes.",NHLBI,Sleep Apnea +Who is at risk for Sleep Apnea? ?,"Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight. + +Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition. + +People who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion. + +Small children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea. + +About half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure. + +Race and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.",NHLBI,Sleep Apnea +What are the symptoms of Sleep Apnea ?,"Major Signs and Symptoms + +One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. Pauses may occur in the snoring. Choking or gasping may follow the pauses. + +The snoring usually is loudest when you sleep on your back; it might be less noisy when you turn on your side. You might not snore every night. Over time, however, the snoring can happen more often and get louder. + +You're asleep when the snoring or gasping happens. You likely won't know that you're having problems breathing or be able to judge how severe the problem is. A family member or bed partner often will notice these problems before you do. + +Not everyone who snores has sleep apnea. + +Another common sign of sleep apnea is fighting sleepiness during the day, at work, or while driving. You may find yourself rapidly falling asleep during the quiet moments of the day when you're not active. Even if you don't have daytime sleepiness, talk with your doctor if you have problems breathing during sleep. + +Other Signs and Symptoms + +Others signs and symptoms of sleep apnea include: + +Morning headaches + +Memory or learning problems and not being able to concentrate + +Feeling irritable, depressed, or having mood swings or personality changes + +Waking up frequently to urinate + +Dry mouth or sore throat when you wake up + +In children, sleep apnea can cause hyperactivity, poor school performance, and angry or hostile behavior. Children who have sleep apnea also may breathe through their mouths instead of their noses during the day.",NHLBI,Sleep Apnea +How to diagnose Sleep Apnea ?,"Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. Your primary care doctor may evaluate your symptoms first. He or she will then decide whether you need to see a sleep specialist. + +Sleep specialists are doctors who diagnose and treat people who have sleep problems. Examples of such doctors include lung and nerve specialists and ear, nose, and throat specialists. Other types of doctors also can be sleep specialists. + +Medical and Family Histories + +If you think you have a sleep problem, consider keeping a sleep diary for 1 to 2 weeks. Bring the diary with you to your next medical appointment. + +Write down when you go to sleep, wake up, and take naps. Also write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel at various times during the day. This information can help your doctor figure out whether you have a sleep disorder. + +You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."" + +At your appointment, your doctor will ask you questions about how you sleep and how you function during the day. + +Your doctor also will want to know how loudly and often you snore or make gasping or choking sounds during sleep. Often you're not aware of such symptoms and must ask a family member or bed partner to report them. + +Let your doctor know if anyone in your family has been diagnosed with sleep apnea or has had symptoms of the disorder. + +Many people aren't aware of their symptoms and aren't diagnosed. + +If you're a parent of a child who may have sleep apnea, tell your child's doctor about your child's signs and symptoms. + +Physical Exam + +Your doctor will check your mouth, nose, and throat for extra or large tissues. Children who have sleep apnea might have enlarged tonsils. Doctors may need only a physical exam and medical history to diagnose sleep apnea in children. + +Adults who have sleep apnea may have an enlarged uvula (U-vu-luh) or soft palate. The uvula is the tissue that hangs from the middle of the back of your mouth. The soft palate is the roof of your mouth in the back of your throat. + +Sleep Studies + +Sleep studies are tests that measure how well you sleep and how your body responds to sleep problems. These tests can help your doctor find out whether you have a sleep disorder and how severe it is. Sleep studies are the most accurate tests for diagnosing sleep apnea. + +There are different kinds of sleep studies. If your doctor thinks you have sleep apnea, he or she may recommend a polysomnogram (poly-SOM-no-gram; also called a PSG) or a home-based portable monitor. + +Polysomnogram + +A PSG is the most common sleep study for diagnosing sleep apnea. This study records brain activity, eye movements, heart rate, and blood pressure. + +A PSG also records the amount of oxygen in your blood, air movement through your nose while you breathe, snoring, and chest movements. The chest movements show whether you're making an effort to breathe. + +PSGs often are done at sleep centers or sleep labs. The test is painless. You'll go to sleep as usual, except you'll have sensors attached to your scalp, face, chest, limbs, and a finger. The staff at the sleep center will use the sensors to check on you throughout the night. + +A sleep specialist will review the results of your PSG to see whether you have sleep apnea and how severe it is. He or she will use the results to plan your treatment. + +Your doctor also may use a PSG to find the best setting for you on a CPAP (continuous positive airway pressure) machine. CPAP is the most common treatment for sleep apnea. A CPAP machine uses mild air pressure to keep your airway open while you sleep. + +If your doctor thinks that you have sleep apnea, he or she may schedule a split-night sleep study. During the first half of the night, your sleep will be checked without a CPAP machine. This will show whether you have sleep apnea and how severe it is. + +If the PSG shows that you have sleep apnea, youll use a CPAP machine during the second half of the split-night study. The staff at the sleep center will adjust the flow of air from the CPAP machine to find the setting that works best for you. + +Home-Based Portable Monitor + +Your doctor may recommend a home-based sleep test with a portable monitor. The portable monitor will record some of the same information as a PSG. For example, it may record: + +The amount of oxygen in your blood + +Air movement through your nose while you breathe + +Your heart rate + +Chest movements that show whether you're making an effort to breathe + +A sleep specialist may use the results from a home-based sleep test to help diagnose sleep apnea. He or she also may use the results to decide whether you need a full PSG study in a sleep center.",NHLBI,Sleep Apnea +What are the treatments for Sleep Apnea ?,"Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition. + +The goals of treating sleep apnea are to: + +Restore regular breathing during sleep + +Relieve symptoms such as loud snoring and daytime sleepiness + +Treatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes. + +If you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you. + +Lifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery. + +If you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.) + +If treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options. + +Lifestyle Changes + +If you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need. + +Avoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep. + +Lose weight if you're overweight or obese. Even a little weight loss can improve your symptoms. + +Sleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back. + +Keep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you. + +If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking. + +Mouthpieces + +A mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea. + +A dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep. + +If you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better. + +Breathing Devices + +CPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose. + +The machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep. + +Treating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly. + +Usually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results. + +CPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask. + +If you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects. + +For example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose. + +There are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you. + +People who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP. + +Surgery + +Some people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea. + +Surgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw. + +Surgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic. + +Surgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks. + +Surgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow.",NHLBI,Sleep Apnea +What is (are) Respiratory Failure ?,"Respiratory (RES-pih-rah-tor-e) failure is a condition in which not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. + +Respiratory failure also can occur if your lungs can't properly remove carbon dioxide (a waste gas) from your blood. Too much carbon dioxide in your blood can harm your body's organs. + +Both of these problemsa low oxygen level and a high carbon dioxide level in the bloodcan occur at the same time. + +Diseases and conditions that affect your breathing can cause respiratory failure. Examples include COPD (chronic obstructive pulmonary disease) and spinal cord injuries. COPD prevents enough air from flowing in and out of the airways. Spinal cord injuries can damage the nerves that control breathing. + +Overview + +To understand respiratory failure, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). + +Small blood vessels called capillaries run through the walls of the air sacs. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. At the same time, carbon dioxide moves from the capillaries into the air sacs. This process is called gas exchange. + +In respiratory failure, gas exchange is impaired. + +Respiratory failure can be acute (short term) or chronic (ongoing). Acute respiratory failure can develop quickly and may require emergency treatment. Chronic respiratory failure develops more slowly and lasts longer. + +Signs and symptoms of respiratory failure may include shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). In severe cases, signs and symptoms may include a bluish color on your skin, lips, and fingernails; confusion; and sleepiness. + +One of the main goals of treating respiratory failure is to get oxygen to your lungs and other organs and remove carbon dioxide from your body. Another goal is to treat the underlying cause of the condition. + +Acute respiratory failure usually is treated in an intensive care unit. Chronic respiratory failure can be treated at home or at a long-term care center. + +Outlook + +The outlook for respiratory failure depends on the severity of its underlying cause, how quickly treatment begins, and your overall health. + +People who have severe lung diseases may need long-term or ongoing breathing support, such as oxygen therapy or the help of a ventilator (VEN-til-a-tor). A ventilator is a machine that supports breathing. It blows airor air with increased amounts of oxygeninto your airways and then your lungs.",NHLBI,Respiratory Failure +What causes Respiratory Failure ?,"Diseases and conditions that impair breathing can cause respiratory failure. These disorders may affect the muscles, nerves, bones, or tissues that support breathing, or they may affect the lungs directly. + +When breathing is impaired, your lungs can't easily move oxygen into your blood and remove carbon dioxide from your blood (gas exchange). This can cause a low oxygen level or high carbon dioxide level, or both, in your blood. + +Respiratory failure can occur as a result of: + +Conditions that affect the nerves and muscles that control breathing. Examples include muscular dystrophy, amyotrophic lateral sclerosis (ALS), spinal cord injuries, and stroke. + +Damage to the tissues and ribs around the lungs. An injury to the chest can cause this damage. + +Problems with the spine, such as scoliosis (a curve in the spine). This condition can affect the bones and muscles used for breathing. + +Drug or alcohol overdose. An overdose affects the area of the brain that controls breathing. During an overdose, breathing becomes slow and shallow. + +Lung diseases and conditions, such as COPD (chronic obstructive pulmonary disease), pneumonia, ARDS (acute respiratory distress syndrome), pulmonary embolism, and cystic fibrosis. These diseases and conditions can affect the flow of air and blood into and out of your lungs. ARDS and pneumonia affect gas exchange in the air sacs. + +Acute lung injuries. For example, inhaling harmful fumes or smoke can injure your lungs. + +Normal Lungs and Conditions Causing Respiratory Failure",NHLBI,Respiratory Failure +Who is at risk for Respiratory Failure? ?,"People who have diseases or conditions that affect the muscles, nerves, bones, or tissues that support breathing are at risk for respiratory failure. People who have lung diseases or conditions also are at risk for respiratory failure. For more information, go to ""What Causes Respiratory Failure?""",NHLBI,Respiratory Failure +What are the symptoms of Respiratory Failure ?,"The signs and symptoms of respiratory failure depend on its underlying cause and the levels of oxygen and carbon dioxide in the blood. + +A low oxygen level in the blood can cause shortness of breath and air hunger (feeling like you can't breathe in enough air). If the level of oxygen is very low, it also can cause a bluish color on the skin, lips, and fingernails. A high carbon dioxide level can cause rapid breathing and confusion. + +Some people who have respiratory failure may become very sleepy or lose consciousness. They also may develop arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These symptoms can occur if the brain and heart are not getting enough oxygen.",NHLBI,Respiratory Failure +How to diagnose Respiratory Failure ?,"Your doctor will diagnose respiratory failure based on your medical history, a physical exam, and test results. Once respiratory failure is diagnosed, your doctor will look for its underlying cause. + +Medical History + +Your doctor will ask whether you might have or have recently had diseases or conditions that could lead to respiratory failure. + +Examples include disorders that affect the muscles, nerves, bones, or tissues that support breathing. Lung diseases and conditions also can cause respiratory failure. + +For more information, go to ""What Causes Respiratory Failure?"" + +Physical Exam + +During the physical exam, your doctor will look for signs of respiratory failure and its underlying cause. + +Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). Using a stethoscope, your doctor can listen to your lungs for abnormal sounds, such as crackling. + +Your doctor also may listen to your heart for signs of an arrhythmia (irregular heartbeat). An arrhythmia can occur if your heart doesn't get enough oxygen. + +Your doctor might look for a bluish color on your skin, lips, and fingernails. A bluish color means your blood has a low oxygen level. + +Respiratory failure also can cause extreme sleepiness and confusion, so your doctor might check how alert you are. + +Diagnostic Tests + +To check the oxygen and carbon dioxide levels in your blood, you may have: + +Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. + +Arterial blood gas test. This test measures the oxygen and carbon dioxide levels in your blood. A blood sample is taken from an artery, usually in your wrist. The sample is then sent to a laboratory, where its oxygen and carbon dioxide levels are measured. + +A low level of oxygen or a high level of carbon dioxide in the blood (or both) is a possible sign of respiratory failure. + +Your doctor may recommend other tests, such as a chest x ray, to help find the underlying cause of respiratory failure. A chest x ray is a painless test that takes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. + +If your doctor thinks that you have an arrhythmia as a result of respiratory failure, he or she may recommend an EKG (electrocardiogram). An EKG is a simple, painless test that detects and records the heart's electrical activity.",NHLBI,Respiratory Failure +What are the treatments for Respiratory Failure ?,"Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and its severity. Treatment also depends on the condition's underlying cause. + +Acute respiratory failure can be a medical emergency. It often is treated in an intensive care unit at a hospital. Chronic respiratory failure often can be treated at home. If chronic respiratory failure is severe, your doctor may recommend treatment in a long-term care center. + +One of the main goals of treating respiratory failure is to get oxygen to your lungs and other organs and remove carbon dioxide from your body. Another goal is to treat the underlying cause of the condition. + +Oxygen Therapy and Ventilator Support + +If you have respiratory failure, you may receive oxygen therapy. Extra oxygen is given through a nasal cannula (two small plastic tubes, or prongs, that are placed in both nostrils) or through a mask that fits over your nose and mouth. + +Oxygen Therapy + + + +Oxygen also can be given through a tracheostomy (TRA-ke-OS-to-me). This is a surgically made hole that goes through the front of your neck and into your windpipe. A breathing tube, also called a tracheostomy or trach tube, is placed in the hole to help you breathe. + +Tracheostomy + + + +If the oxygen level in your blood doesn't increase, or if you're still having trouble breathing, your doctor may recommend a ventilator. A ventilator is a machine that supports breathing. It blows airor air with increased amounts of oxygeninto your airways and then your lungs. + +Ventilator + + + +Your doctor will adjust the ventilator as needed. This will help your lungs get the right amount of oxygen. It also can prevent the machine's pressure from injuring your lungs. You'll use the ventilator until you can breathe on your own. + +Other Treatments To Help You Breathe + +Noninvasive positive pressure ventilation (NPPV) and a rocking bed are two methods that can help you breathe better while you sleep. These methods are very useful for people who have chronic respiratory failure. + +NPPV is a treatment that uses mild air pressure to keep your airways open while you sleep. You wear a mask or other device that fits over your nose or your nose and mouth. A tube connects the mask to a machine, which blows air into the tube. + +CPAP (continuous positive airway pressure) is one type of NPPV. For more information, go to the Health Topics CPAP article. Although the article focuses on CPAP treatment for sleep apnea, it explains how CPAP works. + +A rocking bed consists of a mattress on a motorized platform. The mattress gently rocks back and forth. When your head rocks down, the organs in your abdomen and your diaphragm (the main muscle used for breathing) slide up, helping you exhale. When your head rocks up, the organs in your abdomen and your diaphragm slide down, helping you inhale. + +Fluids + +You may be given fluids to improve blood flow throughout your body and to provide nutrition. Your doctor will make sure you get the right amount of fluids. + +Too much fluid can fill the lungs and make it hard for you to get the oxygen you need. Not enough fluid can limit the flow of oxygen-rich blood to the body's organs. + +Fluids usually are given through an intravenous (IV) line inserted in one of your blood vessels. + +Medicines + +Your doctor may prescribe medicines to relieve discomfort. + +Treatments for the Underlying Cause of Respiratory Failure + +Once your doctor figures out what's causing your respiratory failure, he or she will plan how to treat that disease or condition. Treatments may include medicines, procedures, and other therapies.",NHLBI,Respiratory Failure +What is (are) Endocarditis ?,"Endocarditis (EN-do-kar-DI-tis) is an infection of the inner lining of the heart chambers and valves. This lining is called the endocardium (en-do-KAR-de-um). The condition also is called infective endocarditis (IE). + +The term ""endocarditis"" also is used to describe an inflammation of the endocardium due to other conditions. This article only discusses endocarditis related to infection. + +IE occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. The infection can damage your heart and cause serious and sometimes fatal complications. + +IE can develop quickly or slowly; it depends on what type of germ is causing it and whether you have an underlying heart problem. When IE develops quickly, it's called acute infective endocarditis. When it develops slowly, it's called subacute infective endocarditis. + +Overview + +IE mainly affects people who have: + +Damaged or artificial (man-made) heart valves + +Congenital heart defects (defects present at birth) + +Implanted medical devices in the heart or blood vessels + +People who have normal heart valves also can have IE. However, the condition is much more common in people who have abnormal hearts. + +Certain factors make it easier for bacteria to enter your bloodstream. These factors put you at higher risk for IE. For example, poor dental hygiene and unhealthy teeth and gums increase your risk for the infection. + +Other risk factors include using intravenous (IV) drugs, having a catheter (tube) or another medical device in your body for long periods, and having a history of IE. + +Common symptoms of IE are fever and other flu-like symptoms. Because the infection can affect people in different ways, the signs and symptoms vary. IE also can cause problems in many other parts of the body besides the heart. + +If you're at high risk for IE, seek medical care if you have signs or symptoms of the infection, especially a fever that persists or unexplained fatigue (tiredness). + +Outlook + +IE is treated with antibiotics for several weeks. You also may need heart surgery to repair or replace heart valves or remove infected heart tissue. + +Most people who are treated with the proper antibiotics recover. But if the infection isn't treated, or if it persists despite treatment (for example, if the bacteria are resistant to antibiotics), it's usually fatal. + +If you have signs or symptoms of IE, see your doctor as soon as you can, especially if you have abnormal heart valves.",NHLBI,Endocarditis +What causes Endocarditis ?,"Infective endocarditis (IE) occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. Certain factors increase the risk of this happening. + +A common underlying factor in IE is a structural heart defect, especially faulty heart valves. Usually your immune system will kill germs in your bloodstream. However, if your heart has a rough lining or abnormal valves, the invading germs can attach and multiply in the heart. + +Other factors also can play a role in causing IE. Common activities, such as brushing your teeth or having certain dental procedures, can allow bacteria to enter your bloodstream. This is even more likely to happen if your teeth and gums are in poor condition. + +Having a catheter (tube) or another medical device inserted through your skin, especially for long periods, also can allow bacteria to enter your bloodstream. People who use intravenous (IV) drugs also are at risk for IE because of the germs on needles and syringes. + +Bacteria also may spread to the blood and heart from infections in other parts of the body, such as the gut, skin, or genitals. + +Endocarditis Complications + +As the bacteria or other germs multiply in your heart, they form clumps with other cells and matter found in the blood. These clumps are called vegetations (vej-eh-TA-shuns). + +As IE worsens, pieces of the vegetations can break off and travel to almost any other organ or tissue in the body. There, the pieces can block blood flow or cause a new infection. As a result, IE can cause a range of complications. + +Heart Complications + +Heart problems are the most common complication of IE. They occur in one-third to one-half of all people who have the infection. These problems may include a new heart murmur, heart failure, heart valve damage, heart block, or, rarely, a heart attack. + +Central Nervous System Complications + +These complications occur in as many as 20 to 40 percent of people who have IE. Central nervous system complications most often occur when bits of the vegetation, called emboli (EM-bo-li), break away and lodge in the brain. + +The emboli can cause local infections called brain abscesses. Or, they can cause a more widespread brain infection called meningitis (men-in-JI-tis). + +Emboli also can cause strokes or seizures. This happens if they block blood vessels or affect the brain's electrical signals. These complications can cause long-term damage to the brain and may even be fatal. + +Complications in Other Organs + +IE also can affect other organs in the body, such as the lungs, kidneys, and spleen. + +Lungs. The lungs are especially at risk when IE affects the right side of the heart. This is called right-sided infective endocarditis. + +A vegetation or blood clot going to the lungs can cause a pulmonary embolism (PE) and lung damage. A PE is a sudden blockage in a lung artery. + +Other lung complications include pneumonia and a buildup of fluid or pus around the lungs. + +Kidneys. IE can cause kidney abscesses and kidney damage. The infection also can inflame the internal filtering structures of the kidneys. + +Signs and symptoms of kidney complications include back or side pain, blood in the urine, or a change in the color or amount of urine. In some cases, IE can cause kidney failure. + +Spleen. The spleen is an organ located in the left upper part of the abdomen near the stomach. In some people who have IE, the spleen enlarges (especially in people who have long-term IE). Sometimes emboli also can damage the spleen. + +Signs and symptoms of spleen problems include pain or discomfort in the upper left abdomen and/or left shoulder, a feeling of fullness or the inability to eat large meals, and hiccups.",NHLBI,Endocarditis +Who is at risk for Endocarditis? ?,"Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women. + +IE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. Sometimes IE does affect people who were healthy before the infection. + +Major Risk Factors + +The germs that cause IE tend to attach and multiply on damaged, malformed, or artificial (man-made) heart valves and implanted medical devices. Certain conditions put you at higher risk for IE. These include: + +Congenital heart defects (defects that are present at birth). Examples include a malformed heart or abnormal heart valves. + +Artificial heart valves, an implanted medical device in the heart (such as a pacemaker wire), or an intravenous (IV) catheter (tube) in a blood vessel for a long time. + +Heart valves damaged by rheumatic fever or calcium deposits that cause age-related valve thickening. Scars in the heart from a previous case of IE also can damage heart valves. + +IV drug use, especially if needles are shared or reused, contaminated substances are injected, or the skin isn't properly cleaned before injection.",NHLBI,Endocarditis +What are the symptoms of Endocarditis ?,"Infective endocarditis (IE) can cause a range of signs and symptoms that can vary from person to person. Signs and symptoms also can vary over time in the same person. + +Signs and symptoms differ depending on whether you have an underlying heart problem, the type of germ causing the infection, and whether you have acute or subacute IE. + +Signs and symptoms of IE may include: + +Flu-like symptoms, such as fever, chills, fatigue (tiredness), aching muscles and joints, night sweats, and headaches. + +Shortness of breath or a cough that won't go away. + +A new heart murmur or a change in an existing heart murmur. + +Skin changes such as: - Overall paleness. - Small, painful, red or purplish bumps under the skin on the fingers or toes. - Small, dark, painless flat spots on the palms of the hands or the soles of the feet. - Tiny spots under the fingernails, on the whites of the eyes, on the roof of the mouth and inside of the cheeks, or on the chest. These spots are from broken blood vessels. + +Overall paleness. + +Small, painful, red or purplish bumps under the skin on the fingers or toes. + +Small, dark, painless flat spots on the palms of the hands or the soles of the feet. + +Tiny spots under the fingernails, on the whites of the eyes, on the roof of the mouth and inside of the cheeks, or on the chest. These spots are from broken blood vessels. + +Nausea (feeling sick to your stomach), vomiting, a decrease in appetite, a sense of fullness with discomfort on the upper left side of the abdomen, or weight loss with or without a change in appetite. + +Blood in the urine. + +Swelling in the feet, legs, or abdomen.",NHLBI,Endocarditis +How to diagnose Endocarditis ?,"Your doctor will diagnose infective endocarditis (IE) based on your risk factors, your medical history and signs and symptoms, and test results. + +Diagnosis of IE often is based on many factors, rather than a single positive test result, sign, or symptom. + +Diagnostic Tests + +Blood Tests + +Blood cultures are the most important blood tests used to diagnose IE. Blood is drawn several times over a 24-hour period. It's put in special culture bottles that allow bacteria to grow. + +Doctors then identify and test the bacteria to see which antibiotics will kill them. Sometimes the blood cultures don't grow any bacteria, even if a person has IE. This is called culture-negative endocarditis, and it requires antibiotic treatment. + +Other blood tests also are used to diagnose IE. For example, a complete blood count may be used to check the number of red and white blood cells in your blood. Blood tests also may be used to check your immune system and to check for inflammation. + +Echocardiography + +Echocardiography (echo) is a painless test that uses sound waves to create pictures of your heart. Two types of echo are useful in diagnosing IE. + +Transthoracic (tranz-thor-AS-ik) echo. For this painless test, gel is applied to the skin on your chest. A device called a transducer is moved around on the outside of your chest. + +This device sends sound waves called ultrasound through your chest. As the ultrasound waves bounce off your heart, a computer converts them into pictures on a screen. + +Your doctor uses the pictures to look for vegetations, areas of infected tissue (such as an abscess), and signs of heart damage. + +Because the sound waves have to pass through skin, muscle, tissue, bone, and lungs, the pictures may not have enough detail. Thus, your doctor may recommend transesophageal (tranz-ih-sof-uh-JEE-ul) echo (TEE). + +Transesophageal echo. For TEE, a much smaller transducer is attached to the end of a long, narrow, flexible tube. The tube is passed down your throat. Before the procedure, you're given medicine to help you relax, and your throat is sprayed with numbing medicine. + +The doctor then passes the transducer down your esophagus (the passage from your mouth to your stomach). Because this passage is right behind the heart, the transducer can get detailed pictures of the heart's structures. + +EKG + +An EKG is a simple, painless test that detects your heart's electrical activity. The test shows how fast your heart is beating, whether your heart rhythm is steady or irregular, and the strength and timing of electrical signals as they pass through your heart. + +An EKG typically isn't used to diagnose IE. However, it may be done to see whether IE is affecting your heart's electrical activity. + +For this test, soft, sticky patches called electrodes are attached to your chest, arms, and legs. You lie still while the electrodes detect your heart's electrical signals. A machine records these signals on graph paper or shows them on a computer screen. The entire test usually takes about 10 minutes.",NHLBI,Endocarditis +What are the treatments for Endocarditis ?,"Infective endocarditis (IE) is treated with antibiotics and sometimes with heart surgery. + +Antibiotics + +Antibiotics usually are given for 2 to 6 weeks through an intravenous (IV) line inserted into a vein. You're often in a hospital for at least the first week or more of treatment. This allows your doctor to make sure the medicine is helping. + +If you're allowed to go home before the treatment is done, the antibiotics are almost always continued by vein at home. You'll need special care if you get IV antibiotic treatment at home. Before you leave the hospital, your medical team will arrange for you to receive home-based care so you can continue your treatment. + +You also will need close medical followup, usually by a team of doctors. This team often includes a doctor who specializes in infectious diseases, a cardiologist (heart specialist), and a heart surgeon. + +Surgery + +Sometimes surgery is needed to repair or replace a damaged heart valve or to help clear up IE. For example, IE caused by fungi often requires surgery. This is because this type of IE is harder to treat than IE caused by bacteria.",NHLBI,Endocarditis +How to prevent Endocarditis ?,"If you're at risk for infective endocarditis (IE), you can take steps to prevent the infection and its complications. + +Be alert to the signs and symptoms of IE. Contact your doctor right away if you have any of these signs or symptoms, especially a persistent fever or unexplained fatigue (tiredness). + +Brush and floss your teeth regularly, and have regular dental checkups. Germs from a gum infection can enter your bloodstream. + +Avoid body piercing, tattoos, and other procedures that may allow germs to enter your bloodstream. + +Research shows that not everyone at risk for IE needs to take antibiotics before routine dental exams and certain other dental and medical procedures. + +Let your health care providers, including your dentist, know if you're at risk for IE. They can tell you whether you need antibiotics before exams and procedures.",NHLBI,Endocarditis +What is (are) Restless Legs Syndrome ?,"Restless legs syndrome (RLS) is a disorder that causes a strong urge to move your legs. This urge to move often occurs with strange and unpleasant feelings in your legs. Moving your legs relieves the urge and the unpleasant feelings. + +People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Sometimes, these feelings also occur in the arms. + +The urge to move and unpleasant feelings happen when you're resting and inactive. Thus, they tend to be worse in the evening and at night. + +Overview + +RLS can make it hard to fall asleep and stay asleep. It may make you feel tired and sleepy during the day. This can make it hard to learn, work, and do other daily activities. Not getting enough sleep also can cause depression, mood swings, or other health problems. + +RLS can range from mild to severe based on: + +The strength of your symptoms and how often they occur + +How easily moving around relieves your symptoms + +How much your symptoms disturb your sleep + +One type of RLS usually starts early in life (before 45 years of age) and tends to run in families. It may even start in childhood. Once this type of RLS starts, it usually lasts for the rest of your life. Over time, symptoms slowly get worse and occur more often. If you have a mild case, you may have long periods with no symptoms. + +Another type of RLS usually starts later in life (after 45 years of age). It generally doesn't run in families. This type of RLS tends to have a more abrupt onset. The symptoms usually don't get worse over time. + +Some diseases, conditions, and medicines may trigger RLS. For example, the disorder has been linked to kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. When a disease, condition, or medicine causes RLS, the symptoms usually start suddenly. + +Medical conditions or medicines often cause or worsen the type of RLS that starts later in life. + +Outlook + +RLS symptoms often get worse over time. However, some people's symptoms go away for weeks to months. + +If a medical condition or medicine triggers RLS, the disorder may go away if the trigger is relieved or stopped. For example, RLS that occurs due to pregnancy tends to go away after giving birth. Kidney transplants (but not dialysis) relieve RLS linked to kidney failure. + +Treatments for RLS include lifestyle changes and medicines. Some simple lifestyle changes often help relieve mild cases of RLS. Medicines often can relieve or prevent the symptoms of more severe RLS. + +Research is ongoing to better understand the causes of RLS and to find better treatments.",NHLBI,Restless Legs Syndrome +What causes Restless Legs Syndrome ?,"Faulty Use of Iron or Lack of Iron + +Research suggests that the main cause of restless legs syndrome (RLS) is a faulty use of iron or a lack of iron in the brain. The brain uses iron to make the chemical dopamine (DO-pah-meen) and to control other brain activities. Dopamine works in the parts of the brain that control movement. + +Many conditions can affect how much iron is in the brain or how it's used. These conditions include kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. All of these conditions increase your risk of RLS. + +People whose family members have RLS also are more likely to develop the disorder. This suggests that genetics may contribute to the faulty use of iron or lack of iron in the brain that triggers RLS. + +Nerve Damage + +Nerve damage in the legs or feet and sometimes in the arms or hands may cause or worsen RLS. Several conditions can cause this type of nerve damage, including diabetes. + +Medicines and Substances + +Certain medicines may trigger RLS. These include some: + +Antinausea medicines (used to treat upset stomach) + +Antidepressants (used to treat depression) + +Antipsychotics (used to treat certain mental health disorders) + +Cold and allergy medicines that contain antihistamines + +Calcium channel blockers (used to treat heart problems and high blood pressure) + +RLS symptoms usually get better or may even go away if the medicine is stopped. + +Certain substances, such as alcohol and tobacco, also can trigger or worsen RLS symptoms. Symptoms may get better or go away if the substances are stopped.",NHLBI,Restless Legs Syndrome +Who is at risk for Restless Legs Syndrome? ?,"Restless legs syndrome (RLS) affects about 515 percent of Americans. Many people who have RLS have family members with the disorder. + +RLS can affect people of any racial or ethnic group, but the disorder is more common in people of Northern European descent. RLS affects both genders, but women are more likely to have it than men. + +The number of cases of RLS rises with age. Many people who have RLS are diagnosed in middle age. People who develop RLS early in life tend to have a family history of the disorder. + +People who have certain diseases or conditions or who take certain medicines are more likely to develop RLS. (For more information, go to ""What Causes Restless Legs Syndrome?"") + +For example, pregnancy is a risk factor for RLS. It usually occurs during the last 3 months of pregnancy. The disorder usually improves or goes away after giving birth. Some women may continue to have symptoms after giving birth. Other women may develop RLS again later in life.",NHLBI,Restless Legs Syndrome +What are the symptoms of Restless Legs Syndrome ?,"The four key signs of restless legs syndrome (RLS) are: + +A strong urge to move your legs. This urge often, but not always, occurs with unpleasant feelings in your legs. When the disorder is severe, you also may have the urge to move your arms. + +Symptoms that start or get worse when you're inactive. The urge to move increases when you're sitting still or lying down and resting. + +Relief from moving. Movement, especially walking, helps relieve the unpleasant feelings. + +Symptoms that start or get worse in the evening or at night. + +You must have all four of these signs to be diagnosed with RLS. + +The Urge To Move + +RLS gets its name from the urge to move the legs when sitting or lying down. This movement relieves the unpleasant feelings that RLS sometimes causes. Typical movements are: + +Pacing and walking + +Jiggling the legs + +Stretching and flexing + +Tossing and turning + +Rubbing the legs + +Unpleasant Feelings + +People who have RLS describe the unpleasant feelings in their limbs as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Severe RLS may cause painful feelings. However, the pain usually is more of an ache than a sharp, stabbing pain. + +Children may describe RLS symptoms differently than adults. In children, the condition may occur with hyperactivity. However, it's not fully known how the disorders are related. + +The unpleasant feelings from RLS often occur in the lower legs (calves). But the feelings can occur at any place in the legs or feet. They also can occur in the arms. + +The feelings seem to come from deep within the limbs, rather than from the surface. You usually will have the feelings in both legs. However, the feelings can occur in one leg, move from one leg to the other, or affect one leg more than the other. + +People who have mild symptoms may notice them only when they're still or awake for a long time, such as on a long airplane trip or while watching TV. If they fall asleep quickly, they may not have symptoms when lying down at night. + +The unpleasant feelings from RLS aren't the same as the leg cramps many people get at night. Leg cramps often are limited to certain muscle groups in the leg, which you can feel tightening. Leg cramps cause more severe pain and require stretching the affected muscle for relief. + +Sometimes arthritis or peripheral artery disease (P.A.D.) can cause pain or discomfort in the legs. Moving the limbs usually worsens the discomfort instead of relieving it. + +Periodic Limb Movement in Sleep + +Many people who have RLS also have a condition called periodic limb movement in sleep (PLMS). PLMS causes your legs or arms to twitch or jerk about every 10 to 60 seconds during sleep. These movements cause you to wake up often and get less sleep. + +PLMS usually affects the legs, but it also can affect the arms. Not everyone who has PLMS also has RLS. + +Related Sleep Problems + +RLS can make it hard to fall or stay asleep. If RLS disturbs your sleep, you may feel very tired during the day. + +Lack of sleep may make it hard for you to concentrate at school or work. Not enough sleep also can cause depression, mood swings, and other health problems such as diabetes or high blood pressure.",NHLBI,Restless Legs Syndrome +How to diagnose Restless Legs Syndrome ?,"Your doctor will diagnose restless legs syndrome (RLS) based on your signs and symptoms, your medical and family histories, a physical exam, and test results. + +Your doctor will use this information to rule out other conditions that have symptoms similar to those of RLS. + +Specialists Involved + +Your primary care doctor usually can diagnose and treat RLS. However, he or she also may suggest that you see a sleep specialist or neurologist. + +Signs and Symptoms + +You must have the four key signs of RLS to be diagnosed with the disorder. + +Your doctor will want to know how your symptoms are affecting your sleep and how alert you are during the day. + +To help your doctor, you may want to keep a sleep diary. Use the diary to keep a daily record of how easy it is to fall and stay asleep, how much sleep you get at night, and how alert you feel during the day. + +For a sample sleep diary, go to the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."" + +Medical and Family Histories + +Your doctor may ask whether you have any of the diseases or conditions that can trigger RLS. These include kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. + +Your doctor also may want to know what medicines you take. Some medicines can trigger or worsen RLS. + +The most common type of RLS tends to run in families. Thus, your doctor may ask whether any of your relatives have RLS. + +Physical Exam + +Your doctor will do a physical exam to check for underlying conditions that may trigger RLS. He or she also will check for other conditions that have symptoms similar to those of RLS. + +Diagnostic Tests + +Currently, no test can diagnose RLS. Still, your doctor may recommend blood tests to measure your iron levels. He or she also may suggest muscle or nerve tests. These tests can show whether you have a condition that can worsen RLS or that has symptoms similar to those of RLS. + +Rarely, sleep studies are used to help diagnose RLS. A sleep study measures how much and how well you sleep. Although RLS can cause a lack of sleep, this sign isn't specific enough to diagnose the condition. + +Researchers continue to study new ways to diagnose RLS. + +Drug Therapy Trial + +If your doctor thinks you have RLS, he or she may prescribe certain medicines to relieve your symptoms. These medicines, which are used to treat people who have Parkinson's disease, also can relieve RLS symptoms. If the medicines relieve your symptoms, your doctor can confirm that you have RLS.",NHLBI,Restless Legs Syndrome +What are the treatments for Restless Legs Syndrome ?,"Restless legs syndrome (RLS) has no cure. If a condition or medicine triggers RLS, it may go away or get better if the trigger is relieved or stopped. + +RLS can be treated. The goals of treatment are to: + +Prevent or relieve symptoms + +Increase the amount of sleep you're getting and improve the quality of your sleep + +Treat or correct any underlying condition that may trigger or worsen RLS + +Mild cases of RLS often are treated with lifestyle changes and sometimes with periodic use of medicines. More severe RLS usually is treated with daily medicines. + +Lifestyle Changes + +Lifestyle changes can prevent or relieve the symptoms of RLS. For mild RLS, lifestyle changes may be the only treatment needed. + +Preventing Symptoms + +Many common substances, such as alcohol and tobacco, can trigger RLS symptoms. Avoiding these substances can limit or prevent symptoms. + +Some prescription and over-the-counter medicines can cause or worsen RLS symptoms. Tell your doctor about all of the medicines you're taking. He or she can tell you whether you should stop or change certain medicines. + +Adopting good sleep habits can help you fall asleep and stay asleepa problem for many people who have RLS. Good sleep habits include: + +Keeping the area where you sleep cool, quiet, comfortable, and as dark as possible. + +Making your bedroom sleep-friendly. Remove things that can interfere with sleep, such as a TV, computer, or phone. + +Going to bed and waking up at the same time every day. Some people who have RLS find it helpful to go to bed later in the evening and get up later in the morning. + +Avoiding staying in bed awake for long periods in the evening or during the night. + +Doing a challenging activity before bedtime, such as solving a crossword puzzle, may ease your RLS symptoms. This distraction may make it easier for you to fall asleep. Focusing on your breathing and using other relaxation techniques also may help you fall asleep. + +Regular, moderate physical activity also can help limit or prevent RLS symptoms. Often, people who have RLS find that if they increase their activity during the day, they have fewer symptoms. + +Relieving Symptoms + +Certain activities can relieve RLS symptoms. These include: + +Walking or stretching + +Taking a hot or cold bath + +Massaging the affected limb(s) + +Using heat or ice packs on the affected limb(s) + +Doing mentally challenging tasks + +Choose an aisle seat at the movies or on airplanes and trains so you can move around, if necessary. + +Medicines + +You may need medicines to treat RLS if lifestyle changes can't control symptoms. Many medicines can relieve or prevent RLS symptoms. + +No single medicine works for all people who have RLS. It may take several changes in medicines and dosages to find the best approach. Sometimes, a medicine will work for a while and then stop working. + +Some of the medicines used to treat RLS also are used to treat Parkinson's disease. These medicines make dopamine or mimic it in the parts of the brain that control movement. (Dopamine is a chemical that helps you move properly.) + +If medicines for Parkinson's disease don't prevent or relieve your symptoms, your doctor may prescribe other medicines. You may have to take more than one medicine to treat your RLS. + +Always talk with your doctor before taking any medicines. He or she can tell you the side effects of each RLS medicine. Side effects may include nausea (feeling sick to your stomach), headache, and daytime sleepiness. + +In some cases, RLS medicines may worsen problems with excessive gambling, shopping, or sexual activity. Sometimes, continued use of RLS medicines may make your RLS symptoms worse. + +Contact your doctor if you have any of these problems. He or she can adjust your medicines to prevent these side effects.",NHLBI,Restless Legs Syndrome +What is (are) Arrhythmia ?,"Espaol + +An arrhythmia (ah-RITH-me-ah) is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. + +A heartbeat that is too fast is called tachycardia (TAK-ih-KAR-de-ah). A heartbeat that is too slow is called bradycardia (bray-de-KAR-de-ah). + +Most arrhythmias are harmless, but some can be serious or even life threatening. During an arrhythmia, the heart may not be able to pump enough blood to the body. Lack of blood flow can damage the brain, heart, and other organs. + +Understanding the Heart's Electrical System + +To understand arrhythmias, it helps to understand the heart's internal electrical system. The heart's electrical system controls the rate and rhythm of the heartbeat. + +With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As the signal travels, it causes the heart to contract and pump blood. + +Each electrical signal begins in a group of cells called the sinus node or sinoatrial (SA) node. The SA node is located in the heart's upper right chamber, the right atrium (AY-tree-um). In a healthy adult heart at rest, the SA node fires off an electrical signal to begin a new heartbeat 60 to 100 times a minute. + +From the SA node, the electrical signal travels through special pathways in the right and left atria. This causes the atria to contract and pump blood into the heart's two lower chambers, the ventricles (VEN-trih-kuls). + +The electrical signal then moves down to a group of cells called the atrioventricular (AV) node, located between the atria and the ventricles. Here, the signal slows down just a little, allowing the ventricles time to finish filling with blood. + +The electrical signal then leaves the AV node and travels along a pathway called the bundle of His. This pathway divides into a right bundle branch and a left bundle branch. The signal goes down these branches to the ventricles, causing them to contract and pump blood to the lungs and the rest of the body. + +The ventricles then relax, and the heartbeat process starts all over again in the SA node. (For more information about the heart's electrical system, including detailed animations, go to the Health Topics How the Heart Works article.) + +A problem with any part of this process can cause an arrhythmia. For example, in atrial fibrillation (A-tre-al fi-bri-LA-shun), a common type of arrhythmia, electrical signals travel through the atria in a fast and disorganized way. This causes the atria to quiver instead of contract. + +Outlook + +There are many types of arrhythmia. Most arrhythmias are harmless, but some are not. The outlook for a person who has an arrhythmia depends on the type and severity of the arrhythmia. + +Even serious arrhythmias often can be successfully treated. Most people who have arrhythmias are able to live normal, healthy lives.",NHLBI,Arrhythmia +What causes Arrhythmia ?,"An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart. + +An arrhythmia also can occur if another part of the heart starts to produce electrical signals. This adds to the signals from the special nerve cells and disrupts the normal heartbeat. + +Smoking, heavy alcohol use, use of some drugs (such as cocaine or amphetamines), use of some prescription or over-the-counter medicines, or too much caffeine or nicotine can lead to arrhythmias in some people. + +Strong emotional stress or anger can make the heart work harder, raise blood pressure, and release stress hormones. Sometimes these reactions can lead to arrhythmias. + +A heart attack or other condition that damages the heart's electrical system also can cause arrhythmias. Examples of such conditions include high blood pressure, coronary heart disease, heart failure, an overactive or underactive thyroid gland (too much or too little thyroid hormone produced), and rheumatic heart disease. + +Congenital (kon-JEN-ih-tal) heart defects can cause some arrhythmias, such as Wolff-Parkinson-White syndrome. The term ""congenital means the defect is present at birth. + +Sometimes the cause of arrhythmias is unknown.",NHLBI,Arrhythmia +Who is at risk for Arrhythmia? ?,"Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising. + +Most serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other health problems that can lead to arrhythmias. + +Older adults also tend to be more sensitive to the side effects of medicines, some of which can cause arrhythmias. Some medicines used to treat arrhythmias can even cause arrhythmias as a side effect. + +Some types of arrhythmia happen more often in children and young adults. Paroxysmal supraventricular tachycardia (PSVT), including Wolff-Parkinson-White syndrome, is more common in young people. PSVT is a fast heart rate that begins and ends suddenly. + +Major Risk Factors + +Arrhythmias are more common in people who have diseases or conditions that weaken the heart, such as: + +Heart attack + +Heart failure or cardiomyopathy, which weakens the heart and changes the way electrical signals move through the heart + +Heart tissue that's too thick or stiff or that hasn't formed normally + +Leaking or narrowed heart valves, which make the heart work too hard and can lead to heart failure + +Congenital heart defects (defects present at birth) that affect the heart's structure or function + +Other conditions also can raise the risk for arrhythmias, such as: + +High blood pressure + +Infections that damage the heart muscle or the sac around the heart + +Diabetes, which increases the risk of high blood pressure and coronary heart disease + +Sleep apnea, which can stress the heart because the heart doesn't get enough oxygen + +An overactive or underactive thyroid gland (too much or too little thyroid hormone in the body) + +Several other risk factors also can raise your risk for arrhythmias. Examples include heart surgery, certain drugs (such as cocaine or amphetamines), or an imbalance of chemicals or other substances (such as potassium) in the bloodstream.",NHLBI,Arrhythmia +What are the symptoms of Arrhythmia ?,"Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are: + +Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast) + +A slow heartbeat + +An irregular heartbeat + +Feeling pauses between heartbeats + +More serious signs and symptoms include: + +Anxiety + +Weakness, dizziness, and light-headedness + +Fainting or nearly fainting + +Sweating + +Shortness of breath + +Chest pain",NHLBI,Arrhythmia +How to diagnose Arrhythmia ?,"Arrhythmias can be hard to diagnose, especially the types that only cause symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical exam, and the results from tests and procedures. + +Specialists Involved + +Doctors who specialize in the diagnosis and treatment of heart diseases include: + +Cardiologists. These doctors diagnose and treat adults who have heart problems. + +Pediatric cardiologists. These doctors diagnose and treat babies, children, and youth who have heart problems. + +Electrophysiologists. These doctors are cardiologists or pediatric cardiologists who specialize in arrhythmias. + +Medical and Family Histories + +To diagnose an arrhythmia, your doctor may ask you to describe your symptoms. He or she may ask whether you feel fluttering in your chest and whether you feel dizzy or light-headed. + +Your doctor also may ask whether you have other health problems, such as a history of heart disease, high blood pressure, diabetes, or thyroid problems. He or she may ask about your family's medical history, including whether anyone in your family: + +Has a history of arrhythmias + +Has ever had heart disease or high blood pressure + +Has died suddenly + +Has other illnesses or health problems + +Your doctor will likely want to know what medicines you're taking, including over-the-counter medicines and supplements. + +Your doctor may ask about your health habits, such as physical activity, smoking, or using alcohol or drugs (for example, cocaine). He or she also may want to know whether you've had emotional stress or anger. + +Physical Exam + +During a physical exam, your doctor may: + +Listen to the rate and rhythm of your heartbeat + +Listen to your heart for a heart murmur (an extra or unusual sound heard during your heartbeat) + +Check your pulse to find out how fast your heart is beating + +Check for swelling in your legs or feet, which could be a sign of an enlarged heart or heart failure + +Look for signs of other diseases, such as thyroid disease, that could be causing the problem + +Diagnostic Tests and Procedures + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. It's the most common test used to diagnose arrhythmias. + +An EKG shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart. + +A standard EKG only records the heartbeat for a few seconds. It won't detect arrhythmias that don't happen during the test. + +To diagnose arrhythmias that come and go, your doctor may have you wear a portable EKG monitor. The two most common types of portable EKGs are Holter and event monitors. + +Holter and Event Monitors + +A Holter monitor records the heart's electrical signals for a full 24- or 48-hour period. You wear one while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG. + +An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. + +For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +Some event monitors are able to send data about your heart's electrical activity to a central monitoring station. Technicians at the station review the information and send it to your doctor. You also can use the device to report any symptoms you're having. + +You can wear an event monitor for weeks or until symptoms occur. + +Other Tests + +Other tests also are used to help diagnose arrhythmias. + +Blood tests. Blood tests check the level of substances in the blood, such as potassium and thyroid hormone. Abnormal levels of these substances can increase your chances of having an arrhythmia. + +Chest x ray. A chest x ray is a painless test that creates pictures of the structures in your chest, such as your heart and lungs. This test can show whether your heart is enlarged. + +Echocardiography. This test uses sound waves to create a moving picture of your heart. Echocardiography (echo) provides information about the size and shape of your heart and how well your heart chambers and valves are working. + +The test also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +There are several types of echo, including stress echo. This test is done both before and after a stress test (see below). A stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (CHD). + +A transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the passage leading from your mouth to your stomach. + +Stress test. Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast. + +The heart tests done during stress testing may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. + +Electrophysiology study (EPS). This test is used to assess serious arrhythmias. During an EPS, a thin, flexible wire is passed through a vein in your groin (upper thigh) or arm to your heart. The wire records your heart's electrical signals. + +Your doctor can use the wire to electrically stimulate your heart and trigger an arrhythmia. This allows your doctor to see whether an antiarrhythmia medicine can stop the problem. + +Catheter ablation, a procedure used to treat some arrhythmias, may be done during an EPS. + +Tilt table testing. This test sometimes is used to help find the cause of fainting spells. You lie on a table that moves from a lying down to an upright position. The change in position may cause you to faint. + +Your doctor watches your symptoms, heart rate, EKG reading, and blood pressure throughout the test. He or she may give you medicine and then check your response to the medicine. + +Coronary angiography. Coronary angiography uses dye and special x rays to show the inside of your coronary arteries. To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. This helps your doctor find blockages that can cause a heart attack. + +Implantable loop recorder. This device detects abnormal heart rhythms. Minor surgery is used to place this device under the skin in the chest area. + +An implantable loop recorder helps doctors figure out why a person may be having palpitations or fainting spells, especially if these symptoms don't happen very often. The device can be used for as long as 12 to 24 months.",NHLBI,Arrhythmia +What are the treatments for Arrhythmia ?,"Common arrhythmia treatments include medicines, medical procedures, and surgery. Your doctor may recommend treatment if your arrhythmia causes serious symptoms, such as dizziness, chest pain, or fainting. + +Your doctor also may recommend treatment if the arrhythmia increases your risk for problems such as heart failure, stroke, or sudden cardiac arrest. + +Medicines + +Medicines can slow down a heart that's beating too fast. They also can change an abnormal heart rhythm to a normal, steady rhythm. Medicines that do this are called antiarrhythmics. + +Some of the medicines used to slow a fast heart rate are beta blockers (such as metoprolol and atenolol), calcium channel blockers (such as diltiazem and verapamil), and digoxin (digitalis). These medicines often are used to treat atrial fibrillation (AF). + +Some of the medicines used to restore a normal heart rhythm are amiodarone, sotalol, flecainide, propafenone, dofetilide, ibutilide, quinidine, procainamide, and disopyramide. These medicines often have side effects. Some side effects can make an arrhythmia worse or even cause a different kind of arrhythmia. + +Currently, no medicine can reliably speed up a slow heart rate. Abnormally slow heart rates are treated with pacemakers. + +People who have AF and some other arrhythmias may be treated with blood-thinning medicines. These medicines reduce the risk of blood clots forming. Warfarin (Coumadin), dabigatran, heparin, and aspirin are examples of blood-thinning medicines. + +Medicines also can control an underlying medical condition that might be causing an arrhythmia, such as heart disease or a thyroid condition. + +Medical Procedures + +Some arrhythmias are treated with pacemakers. A pacemaker is a small device that's placed under the skin of your chest or abdomen to help control abnormal heart rhythms. + +Pacemakers have sensors that detect the heart's electrical activity. When the device senses an abnormal heart rhythm, it sends electrical pulses to prompt the heart to beat at a normal rate. + +Some arrhythmias are treated with a jolt of electricity to the heart. This type of treatment is called cardioversion or defibrillation, depending on which type of arrhythmia is being treated. + +Some people who are at risk for ventricular fibrillation are treated with a device called an implantable cardioverter defibrillator (ICD). Like a pacemaker, an ICD is a small device that's placed under the skin in the chest. This device uses electrical pulses or shocks to help control life-threatening arrhythmias. + +An ICD continuously monitors the heartbeat. If it senses a dangerous ventricular arrhythmia, it sends an electric shock to the heart to restore a normal heartbeat. + +A procedure called catheter ablation is used to treat some arrhythmias if medicines don't work. During this procedure, a thin, flexible tube is put into a blood vessel in your arm, groin (upper thigh), or neck. Then, the tube is guided to your heart. + +A special machine sends energy through the tube to your heart. The energy finds and destroys small areas of heart tissue where abnormal heart rhythms may start. Catheter ablation usually is done in a hospital as part of an electrophysiology study. + +Your doctor may recommend transesophageal echocardiography before catheter ablation to make sure no blood clots are present in the atria (the heart's upper chambers). + +Surgery + +Doctors treat some arrhythmias with surgery. This may occur if surgery is already being done for another reason, such as repair of a heart valve. + +One type of surgery for AF is called maze surgery. During this surgery, a surgeon makes small cuts or burns in the atria. These cuts or burns prevent the spread of disorganized electrical signals. + +If coronary heart disease is the cause of your arrhythmia, your doctor may recommend coronary artery bypass grafting. This surgery improves blood flow to the heart muscle. + +Other Treatments + +Vagal maneuvers are another type of treatment for arrhythmia. These simple exercises sometimes can stop or slow down certain types of supraventricular arrhythmias. They do this by affecting the vagus nerve, which helps control the heart rate. + +Some vagal maneuvers include: + +Gagging + +Holding your breath and bearing down (Valsalva maneuver) + +Immersing your face in ice-cold water + +Coughing + +Putting your fingers on your eyelids and pressing down gently + +Vagal maneuvers aren't an appropriate treatment for everyone. Discuss with your doctor whether vagal maneuvers are an option for you.",NHLBI,Arrhythmia +What is (are) Kawasaki Disease ?,"Kawasaki (KAH-wah-SAH-ke) disease is a rare childhood disease. It's a form of a condition calledvasculitis(vas-kyu-LI-tis). This condition involves inflammation of the blood vessels. + +In Kawasaki disease, the walls of the blood vessels throughout the body become inflamed. The disease can affect any type of blood vessel in the body, including the arteries, veins, and capillaries. + +Sometimes Kawasaki disease affects the coronary arteries, which carry oxygen-rich blood to the heart. As a result, some children who have Kawasaki disease may develop serious heart problems. + +Overview + +The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. + +The disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child. + +Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5years old. + +One of the main symptoms of Kawasaki disease is a fever that lasts longer than5days. The fever remains high even after treatment with standard childhood fever medicines. + +Children who have the disease also may have red eyes, red lips, and redness on the palms of their hands and soles of their feet. These are all signs of inflamed blood vessels. + +Early treatment helps reduce the risk of Kawasaki disease affecting the coronary arteries and causing serious problems. + +Outlook + +Kawasaki disease can't be prevented. However, most children who have the disease usually recover within weeks of getting symptoms. Further problems are rare. + +The disease affects some children's coronary arteries, which can cause serious problems. These children need long-term care and treatment. + +Researchers continue to look for the cause of Kawasaki disease and better ways to diagnose and treat it. They also hope to learn more about long-term health risks, if any, for people who have had the disease.",NHLBI,Kawasaki Disease +What causes Kawasaki Disease ?,"The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. + +Kawasaki disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child.",NHLBI,Kawasaki Disease +Who is at risk for Kawasaki Disease? ?,"Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. + +The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 years old. Kawasaki disease is rare in children older than 8.",NHLBI,Kawasaki Disease +What are the symptoms of Kawasaki Disease ?,"Major Signs and Symptoms + +One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines. + +Other classic signs of the disease are: + +Swollen lymph nodes in the neck + +A rash on the mid-section of the body and in the genital area + +Red, dry, cracked lips and a red, swollen tongue + +Red, swollen palms of the hands and soles of the feet + +Redness of the eyes + +Other Signs and Symptoms + +During the acute phase, your child also may be irritable and have a sore throat, joint pain, diarrhea, vomiting, and stomach pain. + +Within 2 to 3 weeks of the start of symptoms, the skin on your child's fingers and toes may peel, sometimes in large sheets.",NHLBI,Kawasaki Disease +How to diagnose Kawasaki Disease ?,"Kawasaki disease is diagnosed based on your child's signs and symptoms and the results from tests and procedures. + +Specialists Involved + +Pediatricians often are the first to suspect a child has Kawasaki disease. Pediatricians are doctors who specialize in treating children. + +If the disease has affected your child's coronary (heart) arteries, a pediatric cardiologist will confirm the diagnosis and give ongoing treatment. Pediatric cardiologists treat children who have heart problems. + +Other specialists also may be involved in treating children who have Kawasaki disease. + +Signs and Symptoms + +The doctor will check your child for the classic signs and symptoms of Kawasaki disease. + +The doctor will rule out other diseases that cause similar symptoms. These diseases include Rocky Mountain spotted fever, scarlet fever, and juvenile rheumatoid arthritis. + +Generally, your child will be diagnosed with Kawasaki disease if he or she has a fever that lasts longer than 5 days plus four other classic signs or symptoms of the disease. + +However, not all children have classic signs and symptoms of Kawasaki disease. Tests and procedures can help confirm whether a child has the disease. + +Tests and Procedures + +Echocardiography + +If the doctor thinks that your child has Kawasaki disease, he or she will likely recommendechocardiography(EK-o-kar-de-OG-ra-fee), or echo. This painless test uses sound waves to create pictures of the heart and coronary arteries. + +Echo also can help show the disease's effects over time, if any, on your child's coronary arteries. Often, the disease's effects on the coronary arteries don't show up until the second or third week after the first symptoms appear. Thus, this test is done regularly after the diagnosis. + +Some children who have Kawasaki disease don't have the classic signs and symptoms of the acute phase. Doctors may not diagnose these children until 2 to 3 weeks after the onset of the disease. This is when another common sign of Kawasaki disease occurspeeling of the skin on the fingers and toes. + +If your child is diagnosed at this point, he or she will likely need echo right away to see whether the disease has affected the coronary arteries. + +Other Diagnostic Tests + +Doctors also use other tests to help diagnose Kawasaki disease, such as: + +Blood tests. The results from blood tests can show whether the body's blood vessels are inflamed. + +Chest x ray. This painless test creates pictures of structures inside the chest, such as the heart and lungs. A chest x ray can show whether Kawasaki disease has affected the heart. + +EKG (electrocardiogram). This simple test detects and records the heart's electrical activity. An EKG can show whether Kawasaki disease has affected the heart.",NHLBI,Kawasaki Disease +What are the treatments for Kawasaki Disease ?,"Medicines are the main treatment for Kawasaki disease. Rarely, children whose coronary (heart) arteries are affected may need medical procedures or surgery. + +The goals of treatment include: + +Reducing fever and inflammation to improve symptoms + +Preventing the disease from affecting the coronary arteries + +Initial Treatment + +Kawasaki disease can cause serious health problems. Thus, your child will likely be treated in a hospital, at least for the early part of treatment. + +The standard treatment during the disease's acute phase is high-dose aspirin and immune globulin. Immune globulin is a medicine that's injected into a vein. + +Most children who receive these treatments improve greatly within 24 hours. For a small number of children, fever remains. These children may need a second round of immune globulin. + +At the start of treatment, your child will receive high doses of aspirin. As soon as his or her fever goes away, a low dose of aspirin is given. The low dose helps prevent blood clots, which can form in the inflamed small arteries. + +Most children treated for Kawasaki disease fully recover from the acute phase and don't need any further treatment. They should, however, follow a healthy diet and adopt healthy lifestyle habits. Taking these steps can help lower the risk of future heart disease. (Following a healthy lifestyle is advised for all children, not just those who have Kawasaki disease.) + +Children who have had immune globulin should wait 11 months before having the measles and chicken pox vaccines. Immune globulin can prevent those vaccines from working well. + +Long-Term Care and Treatment + +If Kawasaki disease has affected your child's coronary arteries, he or she will need ongoing care and treatment. + +It's best if a pediatric cardiologist provides this care to reduce the risk of severe heart problems. A pediatric cardiologist is a doctor who specializes in treating children who have heart problems. + +Medicines and Tests + +When Kawasaki disease affects the coronary arteries, they may expand and twist. If this happens, your child's doctor may prescribe blood-thinning medicines (for example, warfarin). These medicines help prevent blood clots from forming in the affected coronary arteries. + +Blood-thinning medicines usually are stopped after the coronary arteries heal. Healing may occur about 18 months after the acute phase of the disease. + +In a small number of children, the coronary arteries don't heal. These children likely will need routine tests, such as: + +Echocardiography. This test uses sound waves to create images of the heart. + +EKG (electrocardiogram). This test detects and records the heart's electrical activity. + +Stress test. This test provides information about how the heart works during physical activity or stress. + +Medical Procedures and Surgery + +Rarely, a child who has Kawasaki disease may needcardiac catheterization(KATH-eh-ter-ih-ZA-shun). Doctors use this procedure to diagnose and treat some heart conditions. + +A flexible tube called a catheter is put into a blood vessel in the arm, groin (upper thigh), or neck and threaded to the heart. Through the catheter, doctors can perform tests and treatments on the heart. + +Very rarely, a child may need to have other procedures or surgery if inflammation narrows his or her coronary arteries and blocks blood flow to the heart. + +Percutaneous coronary intervention (PCI), stent placement, or coronary artery bypass grafting(CABG) may be used. + +Coronary angioplasty restores blood flow through narrowed or blocked coronary arteries. A thin tube with a balloon on the end is inserted into a blood vessel in the arm or groin. The tube is threaded to the narrowed or blocked coronary artery. Then, the balloon is inflated to widen the artery and restore blood flow. + +A stent (small mesh tube) may be placed in the coronary artery during angioplasty. This device helps support the narrowed or weakened artery. A stent can improve blood flow and prevent the artery from bursting. + +Rarely, a child may need to have CABG. This surgery is used to treat blocked coronary arteries. During CABG, a healthy artery or vein from another part of the body is connected, or grafted, to the blocked coronary artery. + +The grafted artery or vein bypasses (that is, goes around) the blocked part of the coronary artery. This improves blood flow to the heart.",NHLBI,Kawasaki Disease +How to prevent Kawasaki Disease ?,"Kawasaki disease can't be prevented. However, most children who have the disease recoverusually within weeks of getting signs and symptoms. Further problems are rare.",NHLBI,Kawasaki Disease +What is (are) Metabolic Syndrome ?,"Metabolicsyndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. + +The term ""metabolic"" refers to the biochemical processes involved in the body's normal functioning. Risk factors are traits, conditions, or habits that increase your chance of developing a disease. + +In this article, ""heart disease"" refers to coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque builds up inside the coronary (heart) arteries. + +Plaque hardens and narrows the arteries, reducing blood flow to your heart muscle. This can lead to chest pain, a heart attack, heart damage, or even death. + +Metabolic Risk Factors + +The five conditions described below are metabolic risk factors. You can have any one of these risk factors by itself, but they tend to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. + +A large waistline. This also is called abdominal obesity or ""having an apple shape."" Excess fat in the stomach area is a greater risk factor for heart disease than excess fat in other parts of the body, such as on the hips. + +A high triglyceride level (or you're on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood. + +A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called ""good"" cholesterol. This is because it helps remove cholesterol from your arteries. A low HDL cholesterol level raises your risk for heart disease. + +High blood pressure (or you're on medicine to treat high blood pressure). Blood pressure is the force of blood pushing against the walls of your arteries as your heart pumps blood. If this pressure rises and stays high over time, it can damage your heart and lead to plaque buildup. + +High fasting blood sugar (or you're on medicine to treat high blood sugar). Mildly high blood sugar may be an early sign of diabetes. + +Overview + +Your risk for heart disease, diabetes, and stroke increases with the number of metabolic risk factors you have. The risk of having metabolic syndrome is closely linked to overweight and obesity and a lack of physical activity. + +Insulin resistance also may increase your risk for metabolic syndrome. Insulin resistance is a condition in which the body cant use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where its used for energy. Insulin resistance can lead to high blood sugar levels, and its closely linked to overweight and obesity.Genetics (ethnicity and family history) and older age are other factors that may play a role in causing metabolic syndrome. + +Outlook + +Metabolic syndrome is becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. + +It is possible to prevent or delay metabolic syndrome, mainly with lifestyle changes. A healthy lifestyle is a lifelong commitment. Successfully controlling metabolic syndrome requires long-term effort and teamwork with your health care providers.",NHLBI,Metabolic Syndrome +What causes Metabolic Syndrome ?,"Metabolic syndrome has several causes that act together. You can control some of the causes, such as overweight and obesity, an inactive lifestyle, and insulin resistance. + +You can't control other factors that may play a role in causing metabolic syndrome, such as growing older. Your risk for metabolic syndrome increases with age. + +You also can't control genetics (ethnicity and family history), which may play a role in causing the condition. For example, genetics can increase your risk for insulin resistance, which can lead to metabolic syndrome. + +People who have metabolic syndrome often have two other conditions: excessive blood clotting and constant, low-grade inflammation throughout the body. Researchers don't know whether these conditions cause metabolic syndrome or worsen it. + +Researchers continue to study conditions that may play a role in metabolic syndrome, such as: + +A fatty liver (excess triglycerides and other fats in the liver) + +Polycystic ovarian syndrome (a tendency to develop cysts on the ovaries) + +Gallstones + +Breathing problems during sleep (such as sleep apnea)",NHLBI,Metabolic Syndrome +Who is at risk for Metabolic Syndrome? ?,"People at greatest risk for metabolic syndrome have these underlying causes: + +Abdominal obesity (a large waistline) + +An inactive lifestyle + +Insulin resistance + +Some people are at risk for metabolic syndrome because they take medicines that cause weight gain or changes in blood pressure, blood cholesterol, and blood sugar levels. These medicines most often are used to treat inflammation, allergies, HIV, and depression and other types of mental illness. + +Populations Affected + +Some racial and ethnic groups in the United States are at higher risk for metabolic syndrome than others. Mexican Americans have the highest rate of metabolic syndrome, followed by whites and blacks. + +Other groups at increased risk for metabolic syndrome include: + +People who have a personal history of diabetes + +People who have a sibling or parent who hasdiabetes + +Women when compared with men + +Women who have a personal history of polycystic ovarian syndrome (a tendency to develop cysts on the ovaries) + +Heart Disease Risk + +Metabolic syndrome increases your risk for coronary heart disease. Other risk factors, besides metabolic syndrome, also increase your risk for heart disease. For example, a high LDL (bad) cholesterol level and smoking are major risk factors for heart disease. For details about all of the risk factors for heart disease, go to the Coronary Heart Disease Risk Factors HealthTopic. + +Even if you dont have metabolic syndrome, you should find out your short-term risk for heart disease. The National Cholesterol Education Program (NCEP) divides short-term heart disease risk into four categories. Your risk category depends on which risk factors you have and how many you have. + +Your risk factors are used to calculate your 10-year risk of developing heart disease. The NCEP has an online calculator that you can use to estimate your 10-year risk of having a heart attack. + +High risk: Youre in this category if you already have heart disease or diabetes, or if your 10-year risk score is more than 20 percent. + +Moderately high risk: Youre in this category if you have two or more risk factors and your 10-year risk score is 10 percent to 20 percent. + +Moderate risk: Youre in this category if you have two or more risk factors and your 10-year risk score is less than 10 percent. + +Lower risk: Youre in this category if you have zero or one risk factor. + +Even if your 10-year risk score isnt high, metabolic syndrome will increase your risk for coronary heart disease over time.",NHLBI,Metabolic Syndrome +What are the symptoms of Metabolic Syndrome ?,"Metabolic syndrome is a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. These risk factors can increase your risk for health problems even if they're only moderately raised (borderline-high risk factors). + +Most of the metabolic risk factors have no signs or symptoms, although a large waistline is a visible sign. + +Some people may have symptoms of high blood sugar if diabetesespecially type 2 diabetesis present. Symptoms of high blood sugar often include increased thirst; increased urination, especially at night; fatigue (tiredness); and blurred vision. + +High blood pressure usually has no signs or symptoms. However, some people in the early stages of high blood pressure may have dull headaches, dizzy spells, or more nosebleeds than usual.",NHLBI,Metabolic Syndrome +How to diagnose Metabolic Syndrome ?,"Your doctor will diagnose metabolic syndrome based on the results of a physical exam and blood tests. You must have at least three of the five metabolic risk factors to be diagnosed with metabolic syndrome. + +Metabolic Risk Factors + +A Large Waistline + +Having a large waistline means that you carry excess weight around your waist (abdominal obesity). This is also called having an ""apple-shaped"" figure. Your doctor will measure your waist to find out whether you have a large waistline. + +A waist measurement of 35 inches or more for women or 40 inches or more for men is a metabolic risk factor. A large waistline means you're at increased risk for heart disease and other health problems. + +A High Triglyceride Level + +Triglycerides are a type of fat found in the blood. A triglyceride level of 150 mg/dL or higher (or being on medicine to treat high triglycerides) is a metabolic risk factor. (The mg/dL is milligrams per deciliterthe units used to measure triglycerides, cholesterol, and blood sugar.) + +A Low HDL Cholesterol Level + +HDL cholesterol sometimes is called ""good"" cholesterol. This is because it helps remove cholesterol from your arteries. + +An HDL cholesterol level of less than 50 mg/dL for women and less than 40 mg/dL for men (or being on medicine to treat low HDL cholesterol) is a metabolic risk factor. + +High Blood Pressure + +A blood pressure of 130/85 mmHg or higher (or being on medicine to treat high blood pressure) is a metabolic risk factor. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +If only one of your two blood pressure numbers is high, you're still at risk for metabolic syndrome. + +High Fasting Blood Sugar + +A normal fasting blood sugar level is less than 100 mg/dL. A fasting blood sugar level between 100125 mg/dL is considered prediabetes. A fasting blood sugar level of 126 mg/dL or higher is considered diabetes. + +A fasting blood sugar level of 100 mg/dL or higher (or being on medicine to treat high blood sugar) is a metabolic risk factor. + +About 85 percent of people who have type 2 diabetesthe most common type of diabetesalso have metabolic syndrome. These people have a much higher risk for heart disease than the 15 percent of people who have type 2 diabetes without metabolic syndrome.",NHLBI,Metabolic Syndrome +What are the treatments for Metabolic Syndrome ?,"Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include heart-healthy eating, losing and maintaining a healthy weight, managing stress, physical activity, and quittingsmoking. + +If lifestyle changes arent enough, your doctor may prescribe medicines. Medicines are used to treat and control risk factors, such as high blood pressure, high triglycerides, low HDL (good) cholesterol, and high blood sugar. + +Goals of Treatment + +The major goal of treating metabolic syndrome is to reduce the risk of coronary heart disease. Treatment is directed first at lowering LDL cholesterol and high blood pressure and managing diabetes (if these conditions are present). + +The second goal of treatment is to prevent the onset of type2 diabetes, if it hasnt already developed. Long-term complications of diabetes often include heart and kidney disease, vision loss, and foot or leg amputation. If diabetes is present, the goal of treatment is to reduce your risk for heart disease by controlling all of your risk factors. + + + +Heart-Healthy Lifestyle Changes + +Heart-Healthy Eating + +Heart-healthy eating is an important part of a heart-healthy lifestyle. Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +If you eat: + +Try to eat no more than: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Limiting Alcohol + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weightgain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + + + +Maintaining a Healthy Weight + +If you have metabolic syndrome and are overweight or obese, your doctor will recommend weight loss. He or she can help you create a weight-loss plan and goals. Maintaining a healthy weight can lower your risk for metabolic syndrome, coronary heart disease, and other health problems. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25.0 and 29.9 is considered overweight. + +Of 30.0 or higher is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. + +If youre overweight or obese, try to lose weight. A loss of just 3percent to 5percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL (bad) cholesterol, and increase HDL cholesterol. + + + +Managing Stress + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + + + +Physical Activity + +Regular physical activity can lower your risk for metabolic syndrome, coronary heart disease, and other health problems. Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines for Americans + + + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for heart disease and heart attack and worsen other heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. For more information about how to quit smoking, go to the Smoking and Your Heart Health Topic. + + + +Medicines + +Sometimes lifestyle changes arent enough to control your risk factors for metabolic syndrome. For example, you may need statin medications to control or lower your cholesterol. By lowering your blood cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have: + +Diabetes + +Heart disease or had a prior stroke + +High LDL cholesterol levels + +Doctors may discuss beginning statin treatment with those who have an elevated risk for developing heart disease or having a stroke. + +Your doctor also may prescribe other medications to: + +Decrease your chance of having a heart attack or dying suddenly. + +Lower your blood pressure. + +Prevent blood clots, which can lead to heart attack or stroke. + +Reduce your hearts workload and relieve symptoms of coronary heart disease. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart-healthy lifestyle, even if you take medicines to treat your risk factors for metabolic syndrome.",NHLBI,Metabolic Syndrome +How to prevent Metabolic Syndrome ?,"Making heart-healthy lifestyle choices is the best way to prevent metabolic syndrome by: + +Being physically active + +Following a heart-healthy eating plan + +Knowing your weight, waist measurement, and body mass index + +Maintaining a healthy weight + +Make sure to schedule routine doctor visits to keep track of your cholesterol, blood pressure, and blood sugar levels. Speak with your doctor about a blood test called a lipoprotein panel, which shows your levels of total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.",NHLBI,Metabolic Syndrome +What is (are) Asthma ?,"Espaol + +Asthma (AZ-ma) is a chronic (long-term) lung disease that inflames and narrows the airways. Asthma causes recurring periods of wheezing (a whistling sound when you breathe), chest tightness, shortness of breath, and coughing. The coughing often occurs at night or early in the morning. + +Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 25 million people are known to have asthma. About 7million of these people are children. + +Overview + +To understand asthma, it helps to know how the airways work. The airways are tubes that carry air into and out of your lungs. People who have asthma have inflamed airways. The inflammation makes the airways swollen and very sensitive. The airways tend to react strongly to certain inhaled substances. + +When the airways react, the muscles around them tighten. This narrows the airways, causing less air to flow into the lungs. The swelling also can worsen, making the airways even narrower. Cells in the airways might make more mucus than usual. Mucus is a sticky, thick liquid that can further narrow the airways. + +This chain reaction can result in asthma symptoms. Symptoms can happen each time the airways are inflamed. + +Asthma + + + +Sometimes asthma symptoms are mild and go away on their own or after minimal treatment with asthma medicine. Other times, symptoms continue to get worse. + +When symptoms get more intense and/or more symptoms occur, you're having an asthma attack. Asthma attacks also are called flareups or exacerbations (eg-zas-er-BA-shuns). + +Treating symptoms when you first notice them is important. This will help prevent the symptoms from worsening and causing a severe asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. + +Outlook + +Asthma has no cure. Even when you feel fine, you still have the disease and it can flare up at any time. + +However, with today's knowledge and treatments, most people who have asthma are able to manage the disease. They have few, if any, symptoms. They can live normal, active lives and sleep through the night without interruption from asthma. + +If you have asthma, you can take an active role in managing the disease. For successful, thorough, and ongoing treatment, build strong partnerships with your doctor and other health care providers.",NHLBI,Asthma +What causes Asthma ?,"The exact cause of asthma isn't known. Researchers think some genetic and environmental factors interact to cause asthma, most often early in life. These factors include: + +An inherited tendency to develop allergies, called atopy (AT-o-pe) + +Parents who have asthma + +Certain respiratory infections during childhood + +Contact with some airborne allergens or exposure to some viral infections in infancy or in early childhood when the immune system is developing + +If asthma or atopy runs in your family, exposure to irritants (for example, tobacco smoke) may make your airways more reactive to substances in the air. + +Some factors may be more likely to cause asthma in some people than in others. Researchers continue to explore what causes asthma. + +The ""Hygiene Hypothesis"" + +One theory researchers have for what causes asthma is the ""hygiene hypothesis."" They believe that our Western lifestylewith its emphasis on hygiene and sanitationhas resulted in changes in our living conditions and an overall decline in infections in early childhood. + +Many young children no longer have the same types of environmental exposures and infections as children did in the past. This affects the way that young children's immune systems develop during very early childhood, and it may increase their risk for atopy and asthma. This is especially true for children who have close family members with one or both of these conditions.",NHLBI,Asthma +Who is at risk for Asthma? ?,"Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 22 million people are known to have asthma. Nearly 6 million of these people are children. + +Young children who often wheeze and have respiratory infectionsas well as certain other risk factorsare at highest risk of developing asthma that continues beyond 6 years of age. The other risk factors include having allergies, eczema (an allergic skin condition), or parents who have asthma. + +Among children, more boys have asthma than girls. But among adults, more women have the disease than men. It's not clear whether or how sex and sex hormones play a role in causing asthma. + +Most, but not all, people who have asthma have allergies. + +Some people develop asthma because of contact with certain chemical irritants or industrial dusts in the workplace. This type of asthma is called occupational asthma.",NHLBI,Asthma +What are the symptoms of Asthma ?,"Common signs and symptoms of asthma include: + +Coughing. Coughing from asthma often is worse at night or early in the morning, making it hard to sleep. + +Wheezing. Wheezing is a whistling or squeaky sound that occurs when you breathe. + +Chest tightness. This may feel like something is squeezing or sitting on your chest. + +Shortness of breath. Some people who have asthma say they can't catch their breath or they feel out of breath. You may feel like you can't get air out of your lungs. + +Not all people who have asthma have these symptoms. Likewise, having these symptoms doesn't always mean that you have asthma. The best way to diagnose asthma for certain is to use a lung function test, a medical history (including type and frequency of symptoms), and a physical exam. + +The types of asthma symptoms you have, how often they occur, and how severe they are may vary over time. Sometimes your symptoms may just annoy you. Other times, they may be troublesome enough to limit your daily routine. + +Severe symptoms can be fatal. It's important to treat symptoms when you first notice them so they don't become severe. + +With proper treatment, most people who have asthma can expect to have few, if any, symptoms either during the day or at night. + +What Causes Asthma Symptoms To Occur? + +Many things can trigger or worsen asthma symptoms. Your doctor will help you find out which things (sometimes called triggers) may cause your asthma to flare up if you come in contact with them. Triggers may include: + +Allergens from dust, animal fur, cockroaches, mold, and pollens from trees, grasses, and flowers + +Irritants such as cigarette smoke, air pollution, chemicals or dust in the workplace, compounds in home dcor products, and sprays (such as hairspray) + +Medicines such as aspirin or other nonsteroidal anti-inflammatory drugs and nonselective beta-blockers + +Sulfites in foods and drinks + +Viral upper respiratory infections, such as colds + +Physical activity, including exercise + +Other health conditions can make asthma harder to manage. Examples of these conditions include a runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. These conditions need treatment as part of an overall asthma care plan. + +Asthma is different for each person. Some of the triggers listed above may not affect you. Other triggers that do affect you may not be on the list. Talk with your doctor about the things that seem to make your asthma worse.",NHLBI,Asthma +How to diagnose Asthma ?,"Your primary care doctor will diagnose asthma based on your medical and family histories, a physical exam, and test results. + +Your doctor also will figure out the severity of your asthmathat is, whether it's intermittent, mild, moderate, or severe. The level of severity will determine what treatment you'll start on. + +You may need to see an asthma specialist if: + +You need special tests to help diagnose asthma + +You've had a life-threatening asthma attack + +You need more than one kind of medicine or higher doses of medicine to control your asthma, or if you have overall problems getting your asthma well controlled + +You're thinking about getting allergy treatments + +Medical and Family Histories + +Your doctor may ask about your family history of asthma and allergies. He or she also may ask whether you have asthma symptoms and when and how often they occur. + +Let your doctor know whether your symptoms seem to happen only during certain times of the year or in certain places, or if they get worse at night. + +Your doctor also may want to know what factors seem to trigger your symptoms or worsen them. For more information about possible asthma triggers, go to ""What Are the Signs and Symptoms of Asthma?"" + +Your doctor may ask you about related health conditions that can interfere with asthma management. These conditions include a runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. + +Physical Exam + +Your doctor will listen to your breathing and look for signs of asthma or allergies. These signs include wheezing, a runny nose or swollen nasal passages, and allergic skin conditions (such as eczema). + +Keep in mind that you can still have asthma even if you don't have these signs on the day that your doctor examines you. + +Diagnostic Tests + +Lung Function Test + +Your doctor will use a test called spirometry (spi-ROM-eh-tre) to check how your lungs are working. This test measures how much air you can breathe in and out. It also measures how fast you can blow air out. + +Your doctor also may give you medicine and then test you again to see whether the results have improved. + +If the starting results are lower than normal and improve with the medicine, and if your medical history shows a pattern of asthma symptoms, your diagnosis will likely be asthma. + +Other Tests + +Your doctor may recommend other tests if he or she needs more information to make a diagnosis. Other tests may include: + +Allergy testing to find out which allergens affect you, if any. + +A test to measure how sensitive your airways are. This is called a bronchoprovocation (brong-KO-prav-eh-KA-shun) test. Using spirometry, this test repeatedly measures your lung function during physical activity or after you receive increasing doses of cold air or a special chemical to breathe in. + +A test to show whether you have another condition with the same symptoms as asthma, such as reflux disease, vocal cord dysfunction, or sleep apnea. + +A chest x ray or an EKG (electrocardiogram). These tests will help find out whether a foreign object or other disease may be causing your symptoms. + +Diagnosing Asthma in Young Children + +Most children who have asthma develop their first symptoms before 5 years of age. However, asthma in young children (aged 0 to 5 years) can be hard to diagnose. + +Sometimes it's hard to tell whether a child has asthma or another childhood condition. This is because the symptoms of asthma also occur with other conditions. + +Also, many young children who wheeze when they get colds or respiratory infections don't go on to have asthma after they're 6 years old. + +A child may wheeze because he or she has small airways that become even narrower during colds or respiratory infections. The airways grow as the child grows older, so wheezing no longer occurs when the child gets colds. + +A young child who has frequent wheezing with colds or respiratory infections is more likely to have asthma if: + +One or both parents have asthma + +The child has signs of allergies, including the allergic skin condition eczema + +The child has allergic reactions to pollens or other airborne allergens + +The child wheezes even when he or she doesn't have a cold or other infection + +The most certain way to diagnose asthma is with a lung function test, a medical history, and a physical exam. However, it's hard to do lung function tests in children younger than 5 years. Thus, doctors must rely on children's medical histories, signs and symptoms, and physical exams to make a diagnosis. + +Doctors also may use a 46 week trial of asthma medicines to see how well a child responds.",NHLBI,Asthma +What are the treatments for Asthma ?,"Asthma is a long-term disease that has no cure. The goal of asthma treatment is to control the disease. Good asthma control will: + +Prevent chronic and troublesome symptoms, such as coughing and shortness of breath + +Reduce your need for quick-relief medicines (see below) + +Help you maintain good lung function + +Let you maintain your normal activity level and sleep through the night + +Prevent asthma attacks that could result in an emergency room visit or hospital stay + +To control asthma, partner with your doctor to manage your asthma or your child's asthma. Children aged 10 or olderand younger children who are ableshould take an active role in their asthma care. + +Taking an active role to control your asthma involves: + +Working with your doctor to treat other conditions that can interfere with asthma management. + +Avoiding things that worsen your asthma (asthma triggers). However, one trigger you should not avoid is physical activity. Physical activity is an important part of a healthy lifestyle. Talk with your doctor about medicines that can help you stay active. + +Working with your doctor and other health care providers to create and follow an asthma action plan. + +An asthma action plan gives guidance on taking your medicines properly, avoiding asthma triggers (except physical activity), tracking your level of asthma control, responding to worsening symptoms, and seeking emergency care when needed. + +Asthma is treated with two types of medicines: long-term control and quick-relief medicines. Long-term control medicines help reduce airway inflammation and prevent asthma symptoms. Quick-relief, or ""rescue,"" medicines relieve asthma symptoms that may flare up. + +Your initial treatment will depend on the severity of your asthma. Followup asthma treatment will depend on how well your asthma action plan is controlling your symptoms and preventing asthma attacks. + +Your level of asthma control can vary over time and with changes in your home, school, or work environments. These changes can alter how often you're exposed to the factors that can worsen your asthma. + +Your doctor may need to increase your medicine if your asthma doesn't stay under control. On the other hand, if your asthma is well controlled for several months, your doctor may decrease your medicine. These adjustments to your medicine will help you maintain the best control possible with the least amount of medicine necessary. + +Asthma treatment for certain groups of peoplesuch as children, pregnant women, or those for whom exercise brings on asthma symptomswill be adjusted to meet their special needs. + +Follow an Asthma Action Plan + +You can work with your doctor to create a personal asthma action plan. The plan will describe your daily treatments, such as which medicines to take and when to take them. The plan also will explain when to call your doctor or go to the emergency room. + +If your child has asthma, all of the people who care for him or her should know about the child's asthma action plan. This includes babysitters and workers at daycare centers, schools, and camps. These caretakers can help your child follow his or her action plan. + +Go to the National Heart, Lung, and Blood Institute's (NHLBI's) ""Asthma Action Plan"" for a sample plan. + +Avoid Things That Can Worsen Your Asthma + +Many common things (called asthma triggers) can set off or worsen your asthma symptoms. Once you know what these things are, you can take steps to control many of them. (For more information about asthma triggers, go to ""What Are the Signs and Symptoms of Asthma?"") + +For example, exposure to pollens or air pollution might make your asthma worse. If so, try to limit time outdoors when the levels of these substances in the outdoor air are high. If animal fur triggers your asthma symptoms, keep pets with fur out of your home or bedroom. + +One possible asthma trigger you shouldnt avoid is physical activity. Physical activity is an important part of a healthy lifestyle. Talk with your doctor about medicines that can help you stay active. + +The NHLBI offers many useful tips for controlling asthma triggers. For more information, go to page 2 of NHLBI's ""Asthma Action Plan."" + +If your asthma symptoms are clearly related to allergens, and you can't avoid exposure to those allergens, your doctor may advise you to get allergy shots. + +You may need to see a specialist if you're thinking about getting allergy shots. These shots can lessen or prevent your asthma symptoms, but they can't cure your asthma. + +Several health conditions can make asthma harder to manage. These conditions include runny nose, sinus infections, reflux disease, psychological stress, and sleep apnea. Your doctor will treat these conditions as well. + +Medicines + +Your doctor will consider many things when deciding which asthma medicines are best for you. He or she will check to see how well a medicine works for you. Then, he or she will adjust the dose or medicine as needed. + +Asthma medicines can be taken in pill form, but most are taken using a device called an inhaler. An inhaler allows the medicine to go directly to your lungs. + +Not all inhalers are used the same way. Ask your doctor or another health care provider to show you the right way to use your inhaler. Review the way you use your inhaler at every medical visit. + +Long-Term Control Medicines + +Most people who have asthma need to take long-term control medicines daily to help prevent symptoms. The most effective long-term medicines reduce airway inflammation, which helps prevent symptoms from starting. These medicines don't give you quick relief from symptoms. + +Inhaled corticosteroids. Inhaled corticosteroids are the preferred medicine for long-term control of asthma. They're the most effective option for long-term relief of the inflammation and swelling that makes your airways sensitive to certain inhaled substances. + +Reducing inflammation helps prevent the chain reaction that causes asthma symptoms. Most people who take these medicines daily find they greatly reduce the severity of symptoms and how often they occur. + +Inhaled corticosteroids generally are safe when taken as prescribed. These medicines are different from the illegal anabolic steroids taken by some athletes. Inhaled corticosteroids aren't habit-forming, even if you take them every day for many years. + +Like many other medicines, though, inhaled corticosteroids can have side effects. Most doctors agree that the benefits of taking inhaled corticosteroids and preventing asthma attacks far outweigh the risk of side effects. + +One common side effect from inhaled corticosteroids is a mouth infection called thrush. You might be able to use a spacer or holding chamber on your inhaler to avoid thrush. These devices attach to your inhaler. They help prevent the medicine from landing in your mouth or on the back of your throat. + +Check with your doctor to see whether a spacer or holding chamber should be used with the inhaler you have. Also, work with your health care team if you have any questions about how to use a spacer or holding chamber. Rinsing your mouth out with water after taking inhaled corticosteroids also can lower your risk for thrush. + +If you have severe asthma, you may have to take corticosteroid pills or liquid for short periods to get your asthma under control. + +If taken for long periods, these medicines raise your risk for cataracts and osteoporosis (OS-te-o-po-RO-sis). A cataract is the clouding of the lens in your eye. Osteoporosis is a disorder that makes your bones weak and more likely to break. + +Your doctor may have you add another long-term asthma control medicine so he or she can lower your dose of corticosteroids. Or, your doctor may suggest you take calcium and vitamin D pills to protect your bones. + +Other long-term control medicines. Other long-term control medicines include: + +Cromolyn. This medicine is taken using a device called a nebulizer. As you breathe in, the nebulizer sends a fine mist of medicine to your lungs. Cromolyn helps prevent airway inflammation. + +Omalizumab (anti-IgE). This medicine is given as a shot (injection) one or two times a month. It helps prevent your body from reacting to asthma triggers, such as pollen and dust mites. Anti-IgE might be used if other asthma medicines have not worked well. + +A rare, but possibly life-threatening allergic reaction called anaphylaxis might occur when the Omalizumab injection is given. If you take this medication, work with your doctor to make sure you understand the signs and symptoms of anaphylaxis and what actions you should take. + +Inhaled long-acting beta2-agonists. These medicines open the airways. They might be added to inhaled corticosteroids to improve asthma control. Inhaled long-acting beta2-agonists should never be used on their own for long-term asthma control. They must used with inhaled corticosteroids. + +Leukotriene modifiers. These medicines are taken by mouth. They help block the chain reaction that increases inflammation in your airways. + +Theophylline. This medicine is taken by mouth. Theophylline helps open the airways. + +If your doctor prescribes a long-term control medicine, take it every day to control your asthma. Your asthma symptoms will likely return or get worse if you stop taking your medicine. + +Long-term control medicines can have side effects. Talk with your doctor about these side effects and ways to reduce or avoid them. + +With some medicines, like theophylline, your doctor will check the level of medicine in your blood. This helps ensure that youre getting enough medicine to relieve your asthma symptoms, but not so much that it causes dangerous side effects. + +Quick-Relief Medicines + +All people who have asthma need quick-relief medicines to help relieve asthma symptoms that may flare up. Inhaled short-acting beta2-agonists are the first choice for quick relief. + +These medicines act quickly to relax tight muscles around your airways when you're having a flareup. This allows the airways to open up so air can flow through them. + +You should take your quick-relief medicine when you first notice asthma symptoms. If you use this medicine more than 2 days a week, talk with your doctor about your asthma control. You may need to make changes to your asthma action plan. + +Carry your quick-relief inhaler with you at all times in case you need it. If your child has asthma, make sure that anyone caring for him or her has the child's quick-relief medicines, including staff at the child's school. They should understand when and how to use these medicines and when to seek medical care for your child. + +You shouldn't use quick-relief medicines in place of prescribed long-term control medicines. Quick-relief medicines don't reduce inflammation. + +Track Your Asthma + +To track your asthma, keep records of your symptoms, check your peak flow number using a peak flow meter, and get regular asthma checkups. + +Record Your Symptoms + +You can record your asthma symptoms in a diary to see how well your treatments are controlling your asthma. + +Asthma is well controlled if: + +You have symptoms no more than 2 days a week, and these symptoms don't wake you from sleep more than 1 or 2 nights a month. + +You can do all your normal activities. + +You take quick-relief medicines no more than 2 days a week. + +You have no more than one asthma attack a year that requires you to take corticosteroids by mouth. + +Your peak flow doesn't drop below 80 percent of your personal best number. + +If your asthma isn't well controlled, contact your doctor. He or she may need to change your asthma action plan. + +Use a Peak Flow Meter + +This small, hand-held device shows how well air moves out of your lungs. You blow into the device and it gives you a score, or peak flow number. Your score shows how well your lungs are working at the time of the test. + +Your doctor will tell you how and when to use your peak flow meter. He or she also will teach you how to take your medicines based on your score. + +Your doctor and other health care providers may ask you to use your peak flow meter each morning and keep a record of your results. You may find it very useful to record peak flow scores for a couple of weeks before each medical visit and take the results with you. + +When you're first diagnosed with asthma, it's important to find your ""personal best"" peak flow number. To do this, you record your score each day for a 2- to 3-week period when your asthma is well-controlled. The highest number you get during that time is your personal best. You can compare this number to future numbers to make sure your asthma is controlled. + +Your peak flow meter can help warn you of an asthma attack, even before you notice symptoms. If your score shows that your breathing is getting worse, you should take your quick-relief medicines the way your asthma action plan directs. Then you can use the peak flow meter to check how well the medicine worked. + +Get Asthma Checkups + +When you first begin treatment, you'll see your doctor about every 2 to 6 weeks. Once your asthma is controlled, your doctor may want to see you from once a month to twice a year. + +During these checkups, your doctor may ask whether you've had an asthma attack since the last visit or any changes in symptoms or peak flow measurements. He or she also may ask about your daily activities. This information will help your doctor assess your level of asthma control. + +Your doctor also may ask whether you have any problems or concerns with taking your medicines or following your asthma action plan. Based on your answers to these questions, your doctor may change the dose of your medicine or give you a new medicine. + +If your control is very good, you might be able to take less medicine. The goal is to use the least amount of medicine needed to control your asthma. + +Emergency Care + +Most people who have asthma, including many children, can safely manage their symptoms by following their asthma action plans. However, you might need medical attention at times. + +Call your doctor for advice if: + +Your medicines don't relieve an asthma attack. + +Your peak flow is less than half of your personal best peak flow number. + +Call 911 for emergency care if: + +You have trouble walking and talking because you're out of breath. + +You have blue lips or fingernails. + +At the hospital, you'll be closely watched and given oxygen and more medicines, as well as medicines at higher doses than you take at home. Such treatment can save your life. + +Asthma Treatment for Special Groups + +The treatments described above generally apply to all people who have asthma. However, some aspects of treatment differ for people in certain age groups and those who have special needs. + +Children + +It's hard to diagnose asthma in children younger than 5 years. Thus, it's hard to know whether young children who wheeze or have other asthma symptoms will benefit from long-term control medicines. (Quick-relief medicines tend to relieve wheezing in young children whether they have asthma or not.) + +Doctors will treat infants and young children who have asthma symptoms with long-term control medicines if, after assessing a child, they feel that the symptoms are persistent and likely to continue after 6 years of age. (For more information, go to ""How Is Asthma Diagnosed?"") + +Inhaled corticosteroids are the preferred treatment for young children. Montelukast and cromolyn are other options. Treatment might be given for a trial period of 1month to 6 weeks. Treatment usually is stopped if benefits aren't seen during that time and the doctor and parents are confident the medicine was used properly. + +Inhaled corticosteroids can possibly slow the growth of children of all ages. Slowed growth usually is apparent in the first several months of treatment, is generally small, and doesn't get worse over time. Poorly controlled asthma also may reduce a child's growth rate. + +Many experts think the benefits of inhaled corticosteroids for children who need them to control their asthma far outweigh the risk of slowed growth. + +Older Adults + +Doctors may need to adjust asthma treatment for older adults who take certain other medicines, such as beta blockers, aspirin and other pain relievers, and anti-inflammatory medicines. These medicines can prevent asthma medicines from working well and may worsen asthma symptoms. + +Be sure to tell your doctor about all of the medicines you take, including over-the-counter medicines. + +Older adults may develop weak bones from using inhaled corticosteroids, especially at high doses. Talk with your doctor about taking calcium and vitamin D pills, as well as other ways to help keep your bones strong. + +Pregnant Women + +Pregnant women who have asthma need to control the disease to ensure a good supply of oxygen to their babies. Poor asthma control increases the risk of preeclampsia, a condition in which a pregnant woman develops high blood pressure and protein in the urine. Poor asthma control also increases the risk that a baby will be born early and have a low birth weight. + +Studies show that it's safer to take asthma medicines while pregnant than to risk having an asthma attack. + +Talk with your doctor if you have asthma and are pregnant or planning a pregnancy. Your level of asthma control may get better or it may get worse while you're pregnant. Your health care team will check your asthma control often and adjust your treatment as needed. + +People Whose Asthma Symptoms Occur With Physical Activity + +Physical activity is an important part of a healthy lifestyle. Adults need physical activity to maintain good health. Children need it for growth and development. + +In some people, however, physical activity can trigger asthma symptoms. If this happens to you or your child, talk with your doctor about the best ways to control asthma so you can stay active. + +The following medicines may help prevent asthma symptoms caused by physical activity: + +Short-acting beta2-agonists (quick-relief medicine) taken shortly before physical activity can last 2 to 3 hours and prevent exercise-related symptoms in most people who take them. + +Long-acting beta2-agonists can be protective for up to 12 hours. However, with daily use, they'll no longer give up to 12 hours of protection. Also, frequent use of these medicines for physical activity might be a sign that asthma is poorly controlled. + +Leukotriene modifiers. These pills are taken several hours before physical activity. They can help relieve asthma symptoms brought on by physical activity. + +Long-term control medicines. Frequent or severe symptoms due to physical activity may suggest poorly controlled asthma and the need to either start or increase long-term control medicines that reduce inflammation. This will help prevent exercise-related symptoms. + +Easing into physical activity with a warmup period may be helpful. You also may want to wear a mask or scarf over your mouth when exercising in cold weather. + +If you use your asthma medicines as your doctor directs, you should be able to take part in any physical activity or sport you choose. + +People Having Surgery + +Asthma may add to the risk of having problems during and after surgery. For instance, having a tube put into your throat may cause an asthma attack. + +Tell your surgeon about your asthma when you first talk with him or her. The surgeon can take steps to lower your risk, such as giving you asthma medicines before or during surgery.",NHLBI,Asthma +How to prevent Asthma ?,"You cant prevent asthma. However, you can take steps to control the disease and prevent its symptoms. For example: + +Learn about your asthma and ways to control it. + +Follow your written asthma action plan. (For a sample plan, go to the National Heart, Lung, and Blood Institute's ""Asthma Action Plan."") + +Use medicines as your doctor prescribes. + +Identify and try to avoid things that make your asthma worse (asthma triggers). However, one trigger you should not avoid is physical activity. Physical activity is an important part of a healthy lifestyle. Talk with your doctor about medicines that can help you stay active. + +Keep track of your asthma symptoms and level of control. + +Get regular checkups for your asthma. + +For more details about how to prevent asthma symptoms and attacks, go to ""How Is Asthma Treated and Controlled?""",NHLBI,Asthma +What is (are) Stroke ?,"A stroke occurs if the flow of oxygen-rich blood to a portion of the brain is blocked. Without oxygen, brain cells start to die after a few minutes. Sudden bleeding in the brain also can cause a stroke if it damages brain cells. + +If brain cells die or are damaged because of a stroke, symptoms occur in the parts of the body that these brain cells control. Examples of stroke symptoms include sudden weakness; paralysis or numbness of the face, arms, or legs (paralysis is an inability to move); trouble speaking or understanding speech; and trouble seeing. + +A stroke is a serious medical condition that requires emergency care. A stroke can cause lasting brain damage, long-term disability, or even death. + +If you think you or someone else is having a stroke, call 911 right away. Do not drive to the hospital or let someone else drive you. Call an ambulance so that medical personnel can begin life-saving treatment on the way to the emergency room. During a stroke, every minute counts. + +Overview + +The two main types of stroke are ischemic (is-KE-mik) and hemorrhagic (hem-ah-RAJ-ik). Ischemic is the more common type of stroke. + +An ischemic stroke occurs if an artery that supplies oxygen-rich blood to the brain becomes blocked. Blood clots often cause the blockages that lead to ischemic strokes. + +A hemorrhagic stroke occurs if an artery in the brain leaks blood or ruptures (breaks open). The pressure from the leaked blood damages brain cells. High blood pressure and aneurysms (AN-u-risms) are examples of conditions that can cause hemorrhagic strokes. (Aneurysms are balloon-like bulges in an artery that can stretch and burst.) + +Another condition thats similar to a stroke is a transient ischemic attack, also called a TIA or mini-stroke. A TIA occurs if blood flow to a portion of the brain is blocked only for a short time. Thus, damage to the brain cells isnt permanent (lasting). + +Like ischemic strokes, TIAs often are caused by blood clots. Although TIAs are not full-blown strokes, they greatly increase the risk of having a stroke. If you have a TIA, its important for your doctor to find the cause so you can take steps to prevent a stroke. + +Both strokes and TIAs require emergency care. + +Outlook + +Stroke is a leading cause of death in the United States. Many factors can raise your risk of having a stroke. Talk with your doctor about how you can control these risk factors and help prevent a stroke. + +If you have a stroke, prompt treatment can reduce damage to your brain and help you avoid lasting disabilities. Prompt treatment also may help prevent another stroke. + +Researchers continue to study the causes and risk factors for stroke. Theyre also finding new and better treatments and new ways to help the brain repair itself after a stroke.",NHLBI,Stroke +What causes Stroke ?,"Ischemic Stroke and Transient Ischemic Attack + +An ischemic stroke or transient ischemic attack (TIA) occurs if an artery that supplies oxygen-rich blood to the brain becomes blocked. Many medical conditions can increase the risk of ischemic stroke or TIA. + +For example, atherosclerosis (ath-er-o-skler-O-sis) is a disease in which a fatty substance called plaque builds up on the inner walls of the arteries. Plaque hardens and narrows the arteries, which limits the flow of blood to tissues and organs (such as the heart and brain). + +Plaque in an artery can crack or rupture (break open). Blood platelets (PLATE-lets), which are disc-shaped cell fragments, stick to the site of the plaque injury and clump together to form blood clots. These clots can partly or fully block an artery. + +Plaque can build up in any artery in the body, including arteries in the heart, brain, and neck. The two main arteries on each side of the neck are called the carotid (ka-ROT-id) arteries. These arteries supply oxygen-rich blood to the brain, face, scalp, and neck. + +When plaque builds up in the carotid arteries, the condition is called carotid artery disease. Carotid artery disease causes many of the ischemic strokes and TIAs that occur in the United States. + +An embolic stroke (a type of ischemic stroke) or TIA also can occur if a blood clot or piece of plaque breaks away from the wall of an artery. The clot or plaque can travel through the bloodstream and get stuck in one of the brains arteries. This stops blood flow through the artery and damages brain cells. + +Heart conditions and blood disorders also can cause blood clots that can lead to a stroke or TIA. For example, atrial fibrillation (A-tre-al fi-bri-LA-shun), or AF, is a common cause of embolic stroke. + +In AF, the upper chambers of the heart contract in a very fast and irregular way. As a result, some blood pools in the heart. The pooling increases the risk of blood clots forming in the heart chambers. + +An ischemic stroke or TIA also can occur because of lesions caused by atherosclerosis. These lesions may form in the small arteries of the brain, and they can block blood flow to the brain. + +Hemorrhagic Stroke + +Sudden bleeding in the brain can cause a hemorrhagic stroke. The bleeding causes swelling of the brain and increased pressure in the skull. The swelling and pressure damage brain cells and tissues. + +Examples of conditions that can cause a hemorrhagic stroke include high blood pressure, aneurysms, and arteriovenous (ar-TEER-e-o-VE-nus) malformations (AVMs). + +""Blood pressure"" is the force of blood pushing against the walls of the arteries as the heart pumps blood. If blood pressure rises and stays high over time, it can damage the body in many ways. + +Aneurysms are balloon-like bulges in an artery that can stretch and burst. AVMs are tangles of faulty arteries and veins that can rupture within the brain. High blood pressure can increase the risk of hemorrhagic stroke in people who have aneurysms or AVMs.",NHLBI,Stroke +Who is at risk for Stroke? ?,"Certain traits, conditions, and habits can raise your risk of having a stroke or transient ischemic attack (TIA). These traits, conditions, and habits are known as risk factors. + +The more risk factors you have, the more likely you are to have a stroke. You can treat or control some risk factors, such as high blood pressure and smoking. Other risk factors, such as age and gender, you cant control. + +The major risk factors for stroke include: + +High blood pressure. High blood pressure is the main risk factor for stroke. Blood pressure is considered high if it stays at or above 140/90 millimeters of mercury (mmHg) over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. + +Diabetes. Diabetes is a disease in which the blood sugar level is high because the body doesnt make enough insulin or doesnt use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where its used for energy. + +Heart diseases.Coronary heart disease,cardiomyopathy,heart failure, andatrial fibrillationcan cause blood clots that can lead to a stroke. + +Smoking. Smoking can damage blood vessels and raise blood pressure. Smoking also may reduce the amount of oxygen that reaches your bodys tissues. Exposure to secondhand smoke also can damage the blood vessels. + +Age and gender. Your risk of stroke increases as you get older. At younger ages, men are more likely than women to have strokes. However, women are more likely to die from strokes. Women who take birth control pills also are at slightly higher risk of stroke. + +Race and ethnicity. Strokes occur more often in African American, Alaska Native, and American Indian adults than in white, Hispanic, or Asian American adults. + +Personal or family history of stroke or TIA. If youve had a stroke, youre at higher risk for another one. Your risk of having a repeat stroke is the highest right after a stroke. A TIA also increases your risk of having a stroke, as does having a family history of stroke. + +Brainaneurysmsor arteriovenous malformations (AVMs). Aneurysms are balloon-like bulges in an artery that can stretch and burst. AVMs are tangles of faulty arteries and veins that can rupture (break open) within the brain. AVMs may be present at birth, but often arent diagnosed until they rupture. + +Other risk factors for stroke, many of which of you can control, include: + +Alcohol and illegal drug use, including cocaine, amphetamines, and other drugs + +Certain medical conditions, such as sickle cell disease, vasculitis (inflammation of the blood vessels), and bleeding disorders + +Lack of physical activity + +Overweight and Obesity + +Stress and depression + +Unhealthy cholesterol levels + +Unhealthy diet + +Use of nonsteroidal anti-inflammatory drugs (NSAIDs), but not aspirin, may increase the risk of heart attack or stroke, particularly in patients who have had a heart attack or cardiac bypass surgery. The risk may increase the longer NSAIDs are used. Common NSAIDs include ibuprofen and naproxen. + +Following a healthy lifestyle can lower the risk of stroke. Some people also may need to take medicines to lower their risk. Sometimes strokes can occur in people who dont have any known risk factors.",NHLBI,Stroke +What are the symptoms of Stroke ?,"The signs and symptoms of a stroke often develop quickly. However, they can develop over hours or even days. + +The type of symptoms depends on the type of stroke and the area of the brain thats affected. How long symptoms last and how severe they are vary among different people. + +Signs and symptoms of a stroke may include: + +Sudden weakness + +Paralysis (an inability to move) or numbness of the face, arms, or legs, especially on one side of the body + +Confusion + +Trouble speaking or understanding speech + +Trouble seeing in one or both eyes + +Problems breathing + +Dizziness, trouble walking, loss of balance or coordination, and unexplained falls + +Loss of consciousness + +Sudden and severe headache + +A transient ischemic attack (TIA) has the same signs and symptoms as a stroke. However, TIA symptoms usually last less than 12 hours (although they may last up to 24 hours). A TIA may occur only once in a persons lifetime or more often. + +At first, it may not be possible to tell whether someone is having a TIA or stroke. All stroke-like symptoms require medical care. + +If you think you or someone else is having a TIA or stroke, call 911 right away. Do not drive to the hospital or let someone else drive you. Call an ambulance so that medical personnel can begin life-saving treatment on the way to the emergency room. During a stroke, every minute counts. + +Stroke Complications + +After youve had a stroke, you may develop other complications, such as: + +Blood clots and muscle weakness. Being immobile (unable to move around) for a long time can raise your risk of developing blood clots in the deep veins of the legs. Being immobile also can lead to muscle weakness and decreased muscle flexibility. + +Problems swallowing and pneumonia. If a stroke affects the muscles used for swallowing, you may have a hard time eating or drinking. You also may be at risk of inhaling food or drink into your lungs. If this happens, you may develop pneumonia. + +Loss of bladder control. Some strokes affect the muscles used to urinate. You may need a urinary catheter (a tube placed into the bladder) until you can urinate on your own. Use of these catheters can lead to urinary tract infections. Loss of bowel control or constipation also may occur after a stroke.",NHLBI,Stroke +How to diagnose Stroke ?,"Your doctor will diagnose a stroke based on your signs and symptoms, your medical history, a physical exam, and test results. + +Your doctor will want to find out the type of stroke youve had, its cause, the part of the brain that's affected, and whether you have bleeding in the brain. + +If your doctor thinks youve had a transient ischemic attack (TIA), he or she will look for its cause to help prevent a future stroke. + +Medical History and Physical Exam + +Your doctor will ask you or a family member about your risk factors for stroke. Examples of risk factors include high blood pressure, smoking, heart disease, and a personal or family history of stroke. Your doctor also will ask about your signs and symptoms and when they began. + +During the physical exam, your doctor will check your mental alertness and your coordination and balance. He or she will check for numbness or weakness in your face, arms, and legs; confusion; and trouble speaking and seeing clearly. + +Your doctor will look for signs of carotid artery disease, a common cause of ischemic stroke. He or she will listen to your carotid arteries with a stethoscope. A whooshing sound called a bruit (broo-E) may suggest changed or reduced blood flow due to plaque buildup in the carotid arteries. + +Diagnostic Tests and Procedures + +Your doctor may recommend one or more of the following tests to diagnose a stroke or TIA. + +Brain Computed Tomography + +A brain computed tomography (to-MOG-rah-fee) scan, or brain CT scan, is a painless test that uses x rays to take clear, detailed pictures of your brain. This test often is done right after a stroke is suspected. + +A brain CT scan can show bleeding in the brain or damage to the brain cells from a stroke. The test also can show other brain conditions that may be causing your symptoms. + +Magnetic Resonance Imaging + +Magnetic resonance imaging (MRI) uses magnets and radio waves to create pictures of the organs and structures in your body. This test can detect changes in brain tissue and damage to brain cells from a stroke. + +An MRI may be used instead of, or in addition to, a CT scan to diagnose a stroke. + +Computed Tomography Arteriogram and Magnetic Resonance Arteriogram + +A CT arteriogram (CTA) and magnetic resonance arteriogram (MRA) can show the large blood vessels in the brain. These tests may give your doctor more information about the site of a blood clot and the flow of blood through your brain. + +Carotid Ultrasound + +Carotid ultrasound is a painless and harmless test that uses sound waves to create pictures of the insides of your carotid arteries. These arteries supply oxygen-rich blood to your brain. + +Carotid ultrasound shows whether plaque has narrowed or blocked your carotid arteries. + +Your carotid ultrasound test may include a Doppler ultrasound. Doppler ultrasound is a special test that shows the speed and direction of blood moving through your blood vessels. + +Carotid Angiography + +Carotid angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your carotid arteries. + +For this test, a small tube called a catheter is put into an artery, usually in the groin (upper thigh). The tube is then moved up into one of your carotid arteries. + +Your doctor will inject a substance (called contrast dye) into the carotid artery. The dye helps make the artery visible on x-ray pictures. + +Heart Tests + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +An EKG can help detect heart problems that may have led to a stroke. For example, the test can help diagnose atrial fibrillation or a previous heart attack. + +Echocardiography + +Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart. + +The test gives information about the size and shape of your heart and how well your heart's chambers and valves are working. + +Echo can detect possible blood clots inside the heart and problems with the aorta. The aorta is the main artery that carries oxygen-rich blood from your heart to all parts of your body. + +Blood Tests + +Your doctor also may use blood tests to help diagnose a stroke. + +A blood glucose test measures the amount of glucose (sugar) in your blood. Low blood glucose levels may cause symptoms similar to those of a stroke. + +A platelet count measures the number of platelets in your blood. Blood platelets are cell fragments that help your blood clot. Abnormal platelet levels may be a sign of a bleeding disorder (not enough clotting) or a thrombotic disorder (too much clotting). + +Your doctor also may recommend blood tests to measure how long it takes for your blood to clot. Two tests that may be used are called PT and PTT tests. These tests show whether your blood is clotting normally.",NHLBI,Stroke +What are the treatments for Stroke ?,"Treatment for a stroke depends on whether it is ischemic or hemorrhagic. Treatment for a transient ischemic attack (TIA) depends on its cause, how much time has passed since symptoms began, and whether you have other medical conditions. + +Strokes and TIAs are medical emergencies. If you have stroke symptoms, call 911 right away. Do not drive to the hospital or let someone else drive you. Call an ambulance so that medical personnel can begin lifesaving treatment on the way to the emergency room. During a stroke, every minute counts. + +Once you receive immediate treatment, your doctor will try to treat your stroke risk factors and prevent complications by recommending heart-healthy lifestyle changes. + +Treating an Ischemic Stroke or Transient Ischemic Attack + +An ischemic stroke or TIA occurs if an artery that supplies oxygen-rich blood to the brain becomes blocked. Often, blood clots cause the blockages that lead to ischemic strokes and TIAs. Treatment for an ischemic stroke or TIA may include medicines and medical procedures. + +Medicines + +If you have a stroke caused by a blood clot, you may be given a clot-dissolving, or clot-busting, medication called tissue plasminogen activator (tPA). A doctor will inject tPA into a vein in your arm. This type of medication must be given within 4hours of symptom onset. Ideally, it should be given as soon as possible. The sooner treatment begins, the better your chances of recovery. Thus, its important to know the signs and symptoms of a stroke and to call 911 right away for emergency care. + +If you cant have tPA for medical reasons, your doctor may give you antiplatelet medicine that helps stop platelets from clumping together to form blood clots or anticoagulant medicine (blood thinner) that keeps existing blood clots from getting larger. Two common medicines are aspirin and clopidogrel. + +Medical Procedures + +If you have carotid artery disease, your doctor may recommend a carotid endarterectomy or carotid arteryangioplasty. Both procedures open blocked carotid arteries. + +Researchers are testing other treatments for ischemic stroke, such as intra-arterial thrombolysis and mechanical clot removal in cerebral ischemia (MERCI). + +In intra-arterial thrombolysis, a long flexible tube called a catheter is put into your groin (upper thigh) and threaded to the tiny arteries of the brain. Your doctor can deliver medicine through this catheter to break up a blood clot in the brain. + +MERCI is a device that can remove blood clots from an artery. During the procedure, a catheter is threaded through a carotid artery to the affected artery in the brain. The device is then used to pull the blood clot out through the catheter. + +Treating a Hemorrhagic Stroke + +A hemorrhagic stroke occurs if an artery in the brain leaks blood or ruptures. The first steps in treating a hemorrhagic stroke are to find the cause of bleeding in the brain and then control it. Unlike ischemic strokes, hemorrhagic strokes arent treated with antiplatelet medicines and blood thinners because these medicines can make bleeding worse. + +If youre taking antiplatelet medicines or blood thinners and have a hemorrhagic stroke, youll be taken off the medicine. If high blood pressure is the cause of bleeding in the brain, your doctor may prescribe medicines to lower your blood pressure. This can help prevent further bleeding. + +Surgery also may be needed to treat a hemorrhagic stroke. The types of surgery used include aneurysm clipping, coil embolization, and arteriovenous malformation (AVM) repair. + +Aneurysm Clipping and Coil Embolization + +If an aneurysm (a balloon-like bulge in an artery) is the cause of a stroke, your doctor may recommend aneurysm clipping or coil embolization. + +Aneurysm clipping is done to block off the aneurysm from the blood vessels in the brain. This surgery helps prevent further leaking of blood from the aneurysm. It also can help prevent the aneurysm from bursting again.During the procedure, a surgeon will make an incision (cut) in the brain and place a tiny clamp at the base of the aneurysm. Youll be given medicine to make you sleep during the surgery. After the surgery, youll need to stay in the hospitals intensive care unit for a few days. + +Coil embolization is a less complex procedure for treating an aneurysm. The surgeon will insert a tube called a catheter into an artery in the groin. He or she will thread the tube to the site of the aneurysm.Then, a tiny coil will be pushed through the tube and into the aneurysm. The coil will cause a blood clot to form, which will block blood flow through the aneurysm and prevent it from burstingagain.Coil embolization is done in a hospital. Youll be given medicine to make you sleep during thesurgery. + +Arteriovenous Malformation Repair + +If an AVM is the cause of a stroke, your doctor may recommend an AVM repair. (An AVM is a tangle of faulty arteries and veins that can rupture within the brain.) AVM repair helps prevent further bleeding in the brain. + +Doctors use several methods to repair AVMs. These methods include: + +Injecting a substance into the blood vessels of the AVM to block blood flow + +Surgery to remove the AVM + +Using radiation to shrink the blood vessels of the AVM + +Treating Stroke Risk Factors + +After initial treatment for a stroke or TIA, your doctor will treat your risk factors. He or she may recommend heart-healthy lifestyle changes to help control your risk factors. + +Heart-healthy lifestyle changes may include: + +heart-healthy eating + +maintaining a healthy weight + +managing stress + +physical activity + +quitting smoking + +If lifestyle changes arent enough, you may need medicine to control your risk factors. + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +Try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for stroke. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25.0 and 29.9 is considered overweight. + +Of 30.0 or higher is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Regular physical activity can lower many risk factors for stroke. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans + +Quitting Smoking + +If you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk for stroke. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, visit Smoking and Your Heart.",NHLBI,Stroke +How to prevent Stroke ?,"Taking action to control your risk factors can help prevent or delay a stroke. If youve already had a stroke, these actions can help prevent another one. + +Be physically active. Physical activity can improve your fitness level and health. Talk with your doctor about what types and amounts of activity are safe for you. + +Dont smoke, or if you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk of stroke. Talk with your doctor about programs and products that can help you quit. Also, secondhand smoke can damage the bloodvessels. + +Maintain a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight loss plan. Controlling your weight helps you control risk factors for stroke. + +Make heart-healthy eating choices. Heart-healthy eating can help lower your risk or prevent a stroke. + +Manage stress. Use techniques to lower your stress levels. + +If you or someone in your family has had a stroke, be sure to tell your doctor. By knowing your family history of stroke, you may be able to lower your risk factors and prevent or delay a stroke. If youve had a transient ischemic attack (TIA), dont ignore it. TIAs are warnings, and its important for your doctor to find the cause of the TIA so you can take steps to prevent a stroke.",NHLBI,Stroke +What is (are) Diabetic Heart Disease ?,"The term ""diabetic heart disease"" (DHD) refers to heart disease that develops in people who have diabetes. Compared with people who don't have diabetes, people who have diabetes: + +Are at higher risk for heart disease + +Have additional causes of heart disease + +May develop heart disease at a younger age + +May have more severe heart disease + +What Is Diabetes? + +Diabetes is a disease in which the body's blood glucose (sugar) level is too high. Normally, the body breaks down food into glucose and carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy. + +The two main types of diabetes are type 1 and type 2. In type 1 diabetes, the body doesn't make enough insulin. This causes the body's blood sugar level to rise. + +In type 2 diabetes, the body's cells don't use insulin properly (a condition called insulin resistance). At first, the body reacts by making more insulin. Over time, though, the body can't make enough insulin to control its blood sugar level. + +For more information about diabetes, go to the National Institute of Diabetes and Digestive and Kidney Diseases' Introduction to Diabetes Web page. + +What Heart Diseases Are Involved in Diabetic Heart Disease? + +DHD may include coronary heart disease (CHD), heart failure, and/or diabetic cardiomyopathy (KAR-de-o-mi-OP-ah-thee). + +Coronary Heart Disease + +In CHD, a waxy substance called plaque (plak) builds up inside the coronary arteries. These arteries supply your heart muscle with oxygen-rich blood. + +Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. When plaque builds up in the arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis). + +Plaque narrows the coronary arteries and reduces blood flow to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. + +CHD can lead to chest pain or discomfort called angina (an-JI-nuh or AN-juh-nuh), irregular heartbeats called arrhythmias (ah-RITH-me-ahs), a heart attack, or even death. + +Heart Failure + +Heart failure is a condition in which your heart can't pump enough blood to meet your body's needs. The term heart failure doesn't mean that your heart has stopped or is about to stop working. However, heart failure is a serious condition that requires medical care. + +If you have heart failure, you may tire easily and have to limit your activities. CHD can lead to heart failure by weakening the heart muscle over time. + +Diabetic Cardiomyopathy + +Diabetic cardiomyopathy is a disease that damages the structure and function of the heart. This disease can lead to heart failure and arrhythmias, even in people who have diabetes but don't have CHD. + +Overview + +People who have type 1 or type 2 diabetes can develop DHD. The higher a person's blood sugar level is, the higher his or her risk of DHD. + +Diabetes affects heart disease risk in three major ways. + +First, diabetes alone is a very serious risk factor for heart disease, just like smoking, high blood pressure, and high blood cholesterol. In fact, people who have type 2 diabetes have the same risk of heart attack and dying from heart disease as people who already have had heart attacks. + +Second, when combined with other risk factors, diabetes further raises the risk of heart disease. Although research is ongoing, it's clear that diabetes and other conditionssuch as overweight and obesity and metabolic syndromeinteract to cause harmful physical changes to the heart. + +Third, diabetes raises the risk of earlier and more severe heart problems. Also, people who have DHD tend to have less success with some heart disease treatments, such as coronary artery bypass grafting and percutaneous coronary intervention,also known as coronary angioplasty. + +Outlook + +If you have diabetes, you can lower your risk of DHD. Making lifestyle changes and taking prescribed medicines can help you prevent or control many risk factors. + +Taking action to manage multiple risk factors helps improve your outlook. The good news is that many lifestyle changes help control multiple risk factors. For example, physical activity can lower your blood pressure, help control your blood sugar level and your weight, and reduce stress. + +It's also very important to follow your treatment plan for diabetes and see your doctor for ongoing care. + +If you already have DHD, follow your treatment plan as your doctors advises. This may help you avoid or delay serious problems, such as a heart attack or heart failure.",NHLBI,Diabetic Heart Disease +What causes Diabetic Heart Disease ?,"At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes. + +Researchers continue to study these processes because all of the details aren't yet known. + +Coronary Atherosclerosis + +Atherosclerosis is a disease in which plaque builds up inside the arteries. The exact cause of atherosclerosis isn't known. However, studies show that it is a slow, complex disease that may start in childhood. The disease develops faster as you age. + +Coronary atherosclerosis may start when certain factors damage the inner layers of the coronary (heart) arteries. These factors include: + +Smoking + +High amounts of certain fats and cholesterol in the blood + +High blood pressure + +High amounts of sugar in the blood due to insulin resistance or diabetes + +Plaque may begin to build up where the arteries are damaged. Over time, plaque hardens and narrows the arteries. This reduces the flow of oxygen-rich blood to your heart muscle. + +Eventually, an area of plaque can rupture (break open). When this happens, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots. + +Blood clots narrow the coronary arteries even more. This limits the flow of oxygen-rich blood to your heart and may worsen angina (chest pain) or cause a heart attack. + +Metabolic Syndrome + +Metabolic syndrome is the name for a group of risk factors that raises your risk of both CHD and type 2 diabetes. + +If you have three or more of the five metabolic risk factors, you have metabolic syndrome. The risk factors are: + +A large waistline (a waist measurement of 35 inches or more for women and 40 inches or more for men). + +A high triglyceride (tri-GLIH-seh-ride) level (or youre on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood. + +A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called ""good"" cholesterol. This is because it helps remove cholesterol from your arteries. + +High blood pressure (or youre on medicine to treat high blood pressure). + +A high fasting blood sugar level (or you're on medicine to treat high blood sugar). + +It's unclear whether these risk factors have a common cause or are mainly related by their combined effects on the heart. + +Obesity seems to set the stage for metabolic syndrome. Obesity can cause harmful changes in body fats and how the body uses insulin. + +Chronic (ongoing) inflammation also may occur in people who have metabolic syndrome. Inflammation is the body's response to illness or injury. It may raise your risk of CHD and heart attack. Inflammation also may contribute to or worsen metabolic syndrome. + +Research is ongoing to learn more about metabolic syndrome and how metabolic risk factors interact. + +Insulin Resistance in People Who Have Type 2 Diabetes + +Type 2 diabetes usually begins with insulin resistance. Insulin resistance means that the body can't properly use the insulin it makes. + +People who have type 2 diabetes and insulin resistance have higher levels of substances in the blood that cause blood clots. Blood clots can block the coronary arteries and cause a heart attack or even death. + +The Interaction of Coronary Heart Disease, High Blood Pressure, and Diabetes + +Each of these risk factors alone can damage the heart. CHD reduces the flow of oxygen-rich blood to your heart muscle. High blood pressure and diabetes may cause harmful changes in the structure and function of the heart. + +Having CHD, high blood pressure, and diabetes is even more harmful to the heart. Together, these conditions can severely damage the heart muscle. As a result, the heart has to work harder than normal. Over time, the heart weakens and isnt able to pump enough blood to meet the bodys needs. This condition is called heart failure. + +As the heart weakens, the body may release proteins and other substances into the blood. These proteins and substances also can harm the heart and worsen heart failure.",NHLBI,Diabetic Heart Disease +Who is at risk for Diabetic Heart Disease? ?,"People who have type 1 or type 2 diabetes are at risk for diabetic heart disease (DHD). Diabetes affects heart disease risk in three major ways. + +First, diabetes alone is a very serious risk factor for heart disease. Second, when combined with other risk factors, diabetes further raises the risk of heart disease. Third, compared with people who don't have diabetes, people who have the disease are more likely to: + +Have heart attacks and other heart and blood vessel diseases. In men, the risk is double; in women, the risk is triple. + +Have more complications after a heart attack, such as angina (chest pain or discomfort) and heart failure. + +Die from heart disease. + +The higher your blood sugar level is, the higher your risk of DHD. (A higher than normal blood sugar level is a risk factor for heart disease even in people who don't have diabetes.) + +Type 2 diabetes raises your risk of having silent heart diseasethat is, heart disease with no signs or symptoms. You can even have a heart attack without feeling symptoms. Diabetes-related nerve damage that blunts heart pain may explain why symptoms aren't noticed. + +Other Risk Factors + +Other factors also can raise the risk of coronary heart disease (CHD) in people who have diabetes and in those who don't. You can control most of these risk factors, but some you can't. + +For a more detailed discussion of these risk factors, go to the Health Topics Coronary Heart Disease Risk Factors article. + +Risk Factors You Can Control + +Unhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called ""bad"" cholesterol) and low HDL cholesterol (sometimes called ""good"" cholesterol). + +High blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the body's tissues. + +Prediabetes. This is a condition in which your blood sugar level is higher than normal, but not as high as it is in diabetes. If you have prediabetes and don't take steps to manage it, you'll likely develop type 2 diabetes within 10 years. + +Overweight or obesity. Being overweight or obese raises your risk of heart disease and heart attack. Overweight and obesity also are linked to other heart disease risk factors, such as high blood cholesterol, high blood pressure, and diabetes. Most people who have type 2 diabetes are overweight. + +Metabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raises your risk of heart disease and type 2 diabetes. Metabolic syndrome also raises your risk of other health problems, such as stroke. + +Lack of physical activity. Lack of physical activity can worsen other risk factors for heart disease, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity. + +Unhealthy diet. An unhealthy diet can raise your risk of heart disease. Foods that are high in saturated and trans fats, cholesterol, sodium (salt), and sugar can worsen other heart disease risk factors. + +Stress. Stress and anxiety can trigger your arteries to tighten. This can raise your blood pressure and your risk of having a heart attack. Stress also may indirectly raise your risk of heart disease if it makes you more likely to smoke or overeat foods high in fat and sugar. + +Risk Factors You Can't Control + +Age. As you get older, your risk of heart disease and heart attack rises. In men, the risk of heart disease increases after age 45. In women, the risk increases after age 55. In people who have diabetes, the risk of heart disease increases after age 40. + +Gender. Before age 55, women seem to have a lower risk of heart disease than men. After age 55, however, the risk of heart disease increases similarly in both women and men. + +Family history of early heart disease. Your risk increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age. + +Preeclampsia (pre-e-KLAMP-se-ah). This condition can develop during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of CHD, heart attack, heart failure, and high blood pressure.",NHLBI,Diabetic Heart Disease +What are the symptoms of Diabetic Heart Disease ?,"Some people who have diabetic heart disease (DHD) may have no signs or symptoms of heart disease. This is called silent heart disease. Diabetes-related nerve damage that blunts heart pain may explain why symptoms aren't noticed. + +Thus, people who have diabetes should have regular medical checkups. Tests may reveal a problem before they're aware of it. Early treatment can reduce or delay related problems. + +Some people who have DHD will have some or all of the typical symptoms of heart disease. Be aware of the symptoms described below and seek medical care if you have them. + +If you think you're having a heart attack, call 911 right away for emergency care. Treatment for a heart attack works best when it's given right after symptoms occur. + +Coronary Heart Disease + +A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if your heart muscle doesn't get enough oxygen-rich blood. + +Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain. + +See your doctor if you think you have angina. He or she may recommend tests to check your coronary arteries and to see whether you have CHD risk factors. + +Other CHD signs and symptoms include nausea (feeling sick to your stomach), fatigue (tiredness), shortness of breath, sweating, light-headedness, and weakness. + +Some people don't realize they have CHD until they have a heart attack. A heart attack occurs if a blood clot forms in a coronary artery and blocks blood flow to part of the heart muscle. + +The most common heart attack symptom is chest pain or discomfort. Most heart attacks involve discomfort in the center or left side of the chest that often lasts for more than a few minutes or goes away and comes back. + +The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. The feeling can be mild or severe. Heart attack pain sometimes feels like indigestion or heartburn. Shortness of breath may occur with or before chest discomfort. + +Heart attacks also can cause upper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach. Other heart attack symptoms include nausea, vomiting, light-headedness or sudden dizziness, breaking out in a cold sweat, sleep problems, fatigue, and lack of energy. + +Some heart attack symptoms are similar to angina symptoms. Angina pain usually lasts for only a few minutes and goes away with rest. Chest pain or discomfort that doesn't go away or changes from its usual pattern (for example, occurs more often or while you're resting) can be a sign of a heart attack. + +If you don't know whether your chest pain is angina or a heart attack, call 911 right away for emergency care. + +Not everyone who has a heart attack has typical symptoms. If you've already had a heart attack, your symptoms may not be the same for another one. Also, diabetes-related nerve damage can interfere with pain signals in the body. As a result, some people who have diabetes may have heart attacks without symptoms. + +Heart Failure + +The most common symptoms of heart failure are shortness of breath or trouble breathing, fatigue, and swelling in the ankles, feet, legs, abdomen, and veins in your neck. As the heart weakens, heart failure symptoms worsen. + +People who have heart failure can live longer and more active lives if the condition is diagnosed early and they follow their treatment plans. If you have any form of DHD, talk with your doctor about your risk of heart failure. + +Diabetic Cardiomyopathy + +Diabetic cardiomyopathy may not cause symptoms in its early stages. Later, you may have weakness, shortness of breath, a severe cough, fatigue, and swelling of the legs and feet.",NHLBI,Diabetic Heart Disease +How to diagnose Diabetic Heart Disease ?,"Your doctor will diagnose diabetic heart disease (DHD) based on your signs and symptoms, medical and family histories, a physical exam, and the results from tests and procedures. + +Doctors and researchers are still trying to find out whether routine testing for DHD will benefit people who have diabetes but no heart disease symptoms. + +Initial Tests + +No single test can diagnose DHD, which may involve coronary heart disease (CHD), heart failure, and/or diabetic cardiomyopathy. Initially, your doctor may recommend one or more of the following tests. + +Blood Pressure Measurement + +To measure your blood pressure, your doctor or nurse will use some type of a gauge, a stethoscope (or electronic sensor), and a blood pressure cuff. + +Most often, you'll sit or lie down with the cuff around your arm as your doctor or nurse checks your blood pressure. If he or she doesn't tell you what your blood pressure numbers are, you should ask. + +Blood Tests + +Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels of these substances may show that you're at risk for DHD. + +A blood test also can check the level of a hormone called BNP (brain natriuretic peptide) in your blood. The heart makes BNP, and the level of BNP rises during heart failure. + +Chest X Ray + +A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray can reveal signs of heart failure. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records your heart's electrical activity. The test shows how fast your heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart. + +An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. Stress testing gives your doctor information about how your heart works during physical stress. + +During a stress test, you exercise (walk or run on a treadmill or pedal a bicycle) to make your heart work hard and beat fast. Tests are done on your heart while you exercise. If you cant exercise, you may be given medicine to raise your heart rate. + +Urinalysis + +For this test, you'll give a sample of urine for analysis. The sample is checked for abnormal levels of protein or blood cells. In people who have diabetes, protein in the urine is a risk factor for DHD. + +Other Tests and Procedures + +Your doctor may refer you to a cardiologist if your initial test results suggest that you have a form of DHD. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions. + +The cardiologist may recommend other tests or procedures to get more detailed information about the nature and extent of your DHD. + +For more information about other tests and procedures, go to the diagnosis sections of the Health Topics Coronary Heart Disease, Heart Failure, and Cardiomyopathy articles.",NHLBI,Diabetic Heart Disease +What are the treatments for Diabetic Heart Disease ?,"Diabetic heart disease (DHD) is treated with lifestyle changes, medicines, and medical procedures. The goals of treating DHD include: + +Controlling diabetes and any other heart disease risk factors you have, such as unhealthy blood cholesterol levels and high blood pressure + +Reducing or relieving heart disease symptoms, such as angina (chest pain or discomfort) + +Preventing or delaying heart disease complications, such as a heart attack + +Repairing heart and coronary artery damage + +Following the treatment plan your doctor recommends is very important. Compared with people who don't have diabetes, people who have the disease are at higher risk for heart disease, have additional causes of heart disease, may develop heart disease at a younger age, and may have more severe heart disease. + +Taking action to manage multiple risk factors helps improve your outlook. The good news is that many lifestyle changes help control multiple risk factors. + +Lifestyle Changes + +Following a healthy lifestyle is an important part of treating diabetes and DHD. Some people who have diabetes can manage their blood pressure and blood cholesterol levels with lifestyle changes alone. + +Following a Healthy Diet + +A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas. + +A healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber). + +For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institutes (NHLBIs) Your Guide to Lowering Your Blood Pressure With DASH and the U.S. Department of Agricultures ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating. + +Maintaining a Healthy Weight + +Controlling your weight helps you control heart disease risk factors. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. + +For more information about losing weight or maintaining your weight, go to the Health Topics Overweight and Obesity article. + +Being Physically Active + +Regular physical activity can lower many heart disease risk factors, and it helps control your blood sugar level. Physical activity also can improve how insulin works. (Insulin is a hormone that helps turn glucose into energy.) + +Generally, adults should do at least 150 minutes (2hours and 30 minutes) of moderate-intensity physical activity each week. You dont have to do the activity all at once. You can break it up into shorter periods of at least 10 minutes each. + +Talk with your doctor about what types and amounts and physical activity are safe for you. People who have diabetes must be careful to watch their blood sugar levels and avoid injury to their feet during physical activity. + +For more information about physical activity, go to the U.S. Department of Health and Human Services' ""2008 Physical Activity Guidelines for Americans,"" the Health Topics Physical Activity and Your Heart article, and the NHLBI's ""Your Guide to Physical Activity and Your Heart."" + +Quitting Smoking + +Smoking can damage your blood vessels and raise your risk of heart disease. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the NHLBI's ""Your Guide to a Healthy Heart."" + +Managing Stress + +Research shows that strong emotions, such as anger, can trigger a heart attack. Learning how to managestress, relax, and cope with problems can improve your emotional and physical health. + +Medicines + +Medicines are an important part of treatment for people who have diabetes and for people who have DHD. + +Medicines can help control blood sugar levels, lower blood pressure, reduce the risk of blood clots, improve blood cholesterol levels, reduce the heart's workload, and treat angina symptoms. + +Your doctor will prescribe medicines based on your specific needs. + +Medical Procedures + +If you have DHD, your doctor may recommend a medical procedure. The type of procedure will depend on the type of heart disease you have. + +For example, both percutaneous coronary intervention (PCI),also known as coronaryangioplasty, and coronary artery bypass grafting (CABG) are used to treat coronary heart disease (CHD). Both of these procedures improve blood flow to your heart. PCI also can relieve chest pain. CABG can relieve chest pain and may help prevent a heart attack. + +If you have heart damage and severe heart failure symptoms, your doctor may recommend a cardiac resynchronization therapy (CRT) device or an implantable cardioverter defibrillator (ICD). + +A CRT device is a type of pacemaker. A pacemaker is a small device that helps control abnormal heart rhythms. Its placed under the skin of the chest or abdomen. A CRT device helps the heart's lower chambers contract at the same time, which may decrease heart failure symptoms. + +An ICD is similar to a pacemaker. An ICD is a small device thats placed under the skin of the chest or abdomen. The device uses electrical pulses or shocks to help control dangerous heart rhythms. + +Your doctor also may recommend a pacemaker or ICD to treat diabetic cardiomyopathy. Other types of surgery also are used to treat this type of heart disease. + +For more information about medical procedures used to treat diabetes-related heart diseases, go to the treatment sections of the Health Topics Coronary Heart Disease, Heart Failure, and Cardiomyopathy articles. + +Diabetes-Specific Treatment Issues + +The treatments described above are used for people who have DHD and for people who have heart disease without diabetes. However, some aspects of heart disease treatment differ for people who have diabetes. + +Treatment for High Blood Pressure and High Blood Cholesterol + +Treatment for high blood pressure and high blood cholesterol often begins earlier in people who have diabetes than in those who don't. People who have diabetes also may have more aggressive treatment goals. + +For example, your doctor may prescribe medicines called statins even if your blood cholesterol levels are in the normal range. Your doctor also may prescribe statins if you're older than 40 and have other heart disease risk factors. + +Target goals for LDL cholesterol (sometimes called ""bad"" cholesterol) and high blood pressure also are lower for people who have diabetes than for those who don't. Studies suggest that most people who have diabetes will need more than one blood pressure medicine to reach their goals. + +Research also has shown that some people who have diabetes may benefit more from certain blood pressure and cholesterol medicines than from others. + +One example is a group of cholesterol medicines called bile acid sequestrants (such as cholestyramine). This type of medicine may offer advantages for people who have type 2 diabetes. It appears to improve blood sugar control and lower LDL cholesterol. + +Treatment for Heart Failure + +Some studies suggest that certain medicines may have advantages for treating heart failure in people who have diabetes. These medicines include ACE inhibitors, angiotensin receptor blockers, aldosterone antagonists, and beta blockers. + +Research shows that two blood sugar medicines (insulin and sulfanylureas) don't seem to reduce the risk of heart failure in people who have type 2 diabetes. A third medicine (metformin) shows promise, but research is still ongoing. + +Heart Attack Prevention + +Doctors may recommend aspirin for people with diabetes who are at increased risk for heart disease and heart attack. Taken each day, low-dose aspirin may prevent blood clots that can lead to a heart attack. + +People with diabetes who are at increased risk include most men older than 50 and most women older than 60 who have one or more of the following risk factors: + +Smoking + +High blood pressure + +High blood cholesterol + +A family history of early heart disease + +A higher than normal level of protein in their urine + +Blood Sugar Control + +Controlling blood sugar levels is good for heart health. For example, controlling blood sugar improves everyday heart function for people who have diabetes and heart failure.",NHLBI,Diabetic Heart Disease +How to prevent Diabetic Heart Disease ?,"Taking action to control risk factors can help prevent or delay heart disease in people who have diabetes and in those who don't. Your risk of heart disease increases with the number of risk factors you have. + +One step you can take is to adopt a healthy lifestyle. A healthy lifestyle should be part of a lifelong approach to healthy living. A healthy lifestyle includes: + +Following a healthy diet + +Maintaining a healthy weight + +Being physically active + +Quitting smoking + +Managing stress + +You also should know your family history of diabetes and heart disease. If you or someone in your family has diabetes, heart disease, or both, let your doctor know. + +Your doctor may prescribe medicines to control certain risk factors, such as high blood pressure and high blood cholesterol. Take all of your medicines exactly as your doctor advises. + +People who have diabetes also need good blood sugar control. Controlling your blood sugar level is good for heart health. Ask your doctor about the best ways to control your blood sugar level. + +For more information about lifestyle changes and medicines, go to ""How Is Diabetic Heart Disease Treated?""",NHLBI,Diabetic Heart Disease +What is (are) Bronchopulmonary Dysplasia ?,"Bronchopulmonary (BRONG-ko-PUL-mo-NAR-e) dysplasia (dis-PLA-ze-ah), or BPD, is a serious lung condition that affects infants. BPD mostly affects premature infants who need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). + +Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds (about 1,000 grams) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD. + +Some infants who have BPD may need long-term breathing support from nasal continuous positive airway pressure (NCPAP) machines or ventilators. + +Overview + +Many babies who develop BPD are born with serious respiratory distress syndrome (RDS). RDS is a breathing disorder that mostly affects premature newborns. These infants' lungs aren't fully formed or aren't able to make enough surfactant (sur-FAK-tant). + +Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so an infant can breathe in air once he or she is born. + +Without surfactant, the lungs collapse, and the infant has to work hard to breathe. He or she might not be able to breathe in enough oxygen to support the body's organs. Without proper treatment, the lack of oxygen may damage the infant's brain and other organs. + +Babies who have RDS are treated with surfactant replacement therapy. They also may need oxygen therapy. Shortly after birth, some babies who have RDS also are treated with NCPAP or ventilators (machines that support breathing). + +Often, the symptoms of RDS start to improve slowly after about a week. However, some babies get worse and need more oxygen or breathing support from NCPAP or a ventilator. + +If premature infants still require oxygen therapy by the time they reach their original due dates, they're diagnosed with BPD. + +Outlook + +Advances in care now make it possible for more premature infants to survive. However, these infants are at high risk for BPD. + +Most babies who have BPD get better in time, but they may need treatment for months or even years. They may continue to have lung problems throughout childhood and even into adulthood. There's some concern about whether people who had BPD as babies can ever have normal lung function. + +As children who have BPD grow, their parents can help reduce the risk of BPD complications. Parents can encourage healthy eating habits and good nutrition. They also can avoid cigarette smoke and other lung irritants.",NHLBI,Bronchopulmonary Dysplasia +What causes Bronchopulmonary Dysplasia ?,"Bronchopulmonary dysplasia (BPD) develops as a result of an infant's lungs becoming irritated or inflamed. + +The lungs of premature infants are fragile and often aren't fully developed. They can easily be irritated or injured within hours or days of birth. Many factors can damage premature infants' lungs. + +Ventilation + +Newborns who have breathing problems or can't breathe on their own may need ventilator support. Ventilators are machines that use pressure to blow air into the airways and lungs. + +Although ventilator support can help premature infants survive, the machine's pressure might irritate and harm the babies' lungs. For this reason, doctors only recommend ventilator support when necessary. + +High Levels of Oxygen + +Newborns who have breathing problems might need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). This treatment helps the infants' organs get enough oxygen to work well. + +However, high levels of oxygen can inflame the lining of the lungs and injure the airways. Also, high levels of oxygen can slow lung development in premature infants. + +Infections + +Infections can inflame the lungs. As a result, the airways narrow, which makes it harder for premature infants to breathe. Lung infections also increase the babies' need for extra oxygen and breathing support. + +Heredity + +Studies show that heredity may play a role in causing BPD. More studies are needed to confirm this finding.",NHLBI,Bronchopulmonary Dysplasia +Who is at risk for Bronchopulmonary Dysplasia? ?,"The more premature an infant is and the lower his or her birth weight, the greater the risk of bronchopulmonary dysplasia (BPD). + +Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds (about 1,000 grams) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD. + +The number of babies who have BPD is higher now than in the past. This is because of advances in care that help more premature infants survive. + +Many babies who develop BPD are born with serious respiratory distress syndrome (RDS). However, some babies who have mild RDS or don't have RDS also develop BPD. These babies often have very low birth weights and one or more other conditions, such as patent ductus arteriosus (PDA) and sepsis. + +PDA is a heart problem that occurs soon after birth in some babies. Sepsis is a serious bacterial infection in the bloodstream.",NHLBI,Bronchopulmonary Dysplasia +What are the symptoms of Bronchopulmonary Dysplasia ?,"Many babies who develop bronchopulmonary dysplasia (BPD) are born with serious respiratory distress syndrome (RDS). The signs and symptoms of RDS at birth are: + +Rapid, shallow breathing + +Sharp pulling in of the chest below and between the ribs with each breath + +Grunting sounds + +Flaring of the nostrils + +Babies who have RDS are treated with surfactant replacement therapy. They also may need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). + +Shortly after birth, some babies who have RDS also are treated with nasal continuous positive airway pressure (NCPAP) or ventilators (machines that support breathing). + +Often, the symptoms of RDS start to improve slowly after about a week. However, some babies get worse and need more oxygen or breathing support from NCPAP or a ventilator. + +A first sign of BPD is when premature infantsusually those born more than 10 weeks earlystill need oxygen therapy by the time they reach their original due dates. These babies are diagnosed with BPD. + +Infants who have severe BPD may have trouble feeding, which can lead to delayed growth. These babies also may develop: + +Pulmonary hypertension (PH). PH is increased pressure in the pulmonary arteries. These arteries carry blood from the heart to the lungs to pick up oxygen. + +Cor pulmonale. Cor pulmonale is failure of the right side of the heart. Ongoing high blood pressure in the pulmonary arteries and the lower right chamber of the heart causes this condition.",NHLBI,Bronchopulmonary Dysplasia +How to diagnose Bronchopulmonary Dysplasia ?,"Infants who are born earlyusually more than 10 weeks before their due datesand still need oxygen therapy by the time they reach their original due dates are diagnosed with bronchopulmonary dysplasia (BPD). + +BPD can be mild, moderate, or severe. The diagnosis depends on how much extra oxygen a baby needs at the time of his or her original due date. It also depends on how long the baby needs oxygen therapy. + +To help confirm a diagnosis of BPD, doctors may recommend tests, such as: + +Chest x ray. A chest x ray takes pictures of the structures inside the chest, such as the heart and lungs. In severe cases of BPD, this test may show large areas of air and signs of inflammation or infection in the lungs. A chest x ray also can detect problems (such as a collapsed lung) and show whether the lungs aren't developing normally. + +Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help determine whether an infection is causing an infant's breathing problems. + +Echocardiography. This test uses sound waves to create a moving picture of the heart. Echocardiography is used to rule out heart defects or pulmonary hypertension as the cause of an infant's breathing problems",NHLBI,Bronchopulmonary Dysplasia +What are the treatments for Bronchopulmonary Dysplasia ?,"Preventive Measures + +If your doctor thinks you're going to give birth too early, he or she may give you injections of a corticosteroid medicine. + +The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep the lungs open so your infant can breathe in air once he or she is born. + +Corticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb. + +Premature babies who have very low birth weights also might be given corticosteroids within the first few days of birth. Doctors sometimes prescribe inhaled nitric oxide shortly after birth for babies who have very low birth weights. This treatment can help improve the babies' lung function. + +These preventive measures may help reduce infants' risk of respiratory distress syndrome (RDS), which can lead to BPD. + +Treatment for Respiratory Distress Syndrome + +The goals of treating infants who have RDS include: + +Reducing further injury to the lungs + +Providing nutrition and other support to help the lungs grow and recover + +Preventing lung infections by giving antibiotics + +Treatment of RDS usually begins as soon as an infant is born, sometimes in the delivery room. Most infants who have signs of RDS are quickly moved to a neonatal intensive care unit (NICU). They receive around-the-clock treatment from health care professionals who specialize in treating premature infants. + +Treatments for RDS include surfactant replacement therapy, breathing support with nasal continuous positive airway pressure (NCPAP) or a ventilator, oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube), and medicines to treat fluid buildup in the lungs. + +For more information about RDS treatments, go to the Health Topics Respiratory Distress Syndrome article. + +Treatment for Bronchopulmonary Dysplasia + +Treatment in the NICU is designed to limit stress on infants and meet their basic needs of warmth, nutrition, and protection. Once doctors diagnose BPD, some or all of the treatments used for RDS will continue in the NICU. + +Such treatment usually includes: + +Using radiant warmers or incubators to keep infants warm and reduce the risk of infection. + +Ongoing monitoring of blood pressure, heart rate, breathing, and temperature through sensors taped to the babies' bodies. + +Using sensors on fingers or toes to check the amount of oxygen in the infants' blood. + +Giving fluids and nutrients through needles or tubes inserted into the infants' veins. This helps prevent malnutrition and promotes growth. Nutrition is vital to the growth and development of the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are passed through their noses or mouths and into their throats. + +Checking fluid intake to make sure that fluid doesn't build up in the babies' lungs. + +As BPD improves, babies are slowly weaned off NCPAP or ventilators until they can breathe on their own. These infants will likely need oxygen therapy for some time. + +If your infant has moderate or severe BPD, echocardiography might be done every few weeks to months to check his or her pulmonary artery pressure. + +If your child needs long-term ventilator support, he or she will likely get a tracheostomy (TRA-ke-OS-toe-me). A tracheostomy is a surgically made hole. It goes through the front of the neck and into the trachea (TRA-ke-ah), or windpipe. Your child's doctor will put the breathing tube from the ventilator through the hole. + +Using a tracheostomy instead of an endotracheal (en-do-TRA-ke-al) tube has some advantages. (An endotracheal tube is a breathing tube inserted through the nose or mouth and into the windpipe.) + +Long-term use of an endotracheal tube can damage the trachea. This damage may need to be corrected with surgery later. A tracheostomy can allow your baby to interact more with you and the NICU staff, start talking, and develop other skills. + +While your baby is in the NICU, he or she also may need physical therapy. Physical therapy can help strengthen your child's muscles and clear mucus out of his or her lungs. + +Infants who have BPD may spend several weeks or months in the hospital. This allows them to get the care they need. + +Before your baby goes home, learn as much as you can about your child's condition and how it's treated. Your baby may continue to have some breathing symptoms after he or she leaves the hospital. + +Your child will likely continue on all or some of the treatments that were started at the hospital, including: + +Medicines, such as bronchodilators, steroids, and diuretics. + +Oxygen therapy or breathing support from NCPAP or a ventilator. + +Extra nutrition and calories, which may be given through a feeding tube. + +Preventive treatment with a medicine called palivizumab for severe respiratory syncytial virus (RSV). This common virus leads to mild, cold-like symptoms in adults and older, healthy children. However, in infantsespecially those in high-risk groupsRSV can lead to severe breathing problems. + +Your child also should have regular checkups with and timely vaccinations from a pediatrician. This is a doctor who specializes in treating children. If your child needs oxygen therapy or a ventilator at home, a pulmonary specialist might be involved in his or her care. + +Seek out support from family, friends, and hospital staff. Ask the case manager or social worker at the hospital about what you'll need after your baby leaves the hospital. + +The doctors and nurses can assist with questions about your infant's care. Also, you may want to ask whether your community has a support group for parents of premature infants.",NHLBI,Bronchopulmonary Dysplasia +How to prevent Bronchopulmonary Dysplasia ?,"Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include: + +Seeing your doctor regularly during your pregnancy + +Following a healthy diet + +Not smoking and avoiding tobacco smoke, alcohol, and illegal drugs + +Controlling any ongoing medical conditions you have + +Preventing infection + +If your doctor thinks that you're going to give birth too early, he or she may give you injections of a corticosteroid medicine. + +The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so your infant can breathe in air once he or she is born. + +Usually, within about 24 hours of your taking this medicine, the baby's lungs start making enough surfactant. This will reduce the infant's risk of respiratory distress syndrome (RDS), which can lead to bronchopulmonary dysplasia (BPD). + +Corticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb. + +If your baby does develop RDS, it will probably be fairly mild. If the RDS isn't mild, BPD will likely develop.",NHLBI,Bronchopulmonary Dysplasia +What is (are) Hemophilia ?,"Espaol + +Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally. + +If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening. + +Overview + +Hemophilia usually is inherited. ""Inherited means that the disorder is passed from parents to children through genes. + +People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot. + +Platelets are small blood cell fragments that form in the bone marrowa sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding. + +The two main types of hemophilia are A and B. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About 8 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9). + +Rarely, hemophilia can be acquired. ""Acquired means you aren't born with the disorder, but you develop it during your lifetime. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working. + +This article focuses on inherited hemophilia. + +Outlook + +Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder. + +People who don't have hemophilia have a factor VIII activity of 100 percent. People who have severe hemophilia A have a factor VIII activity of less than 1 percent. + +Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.",NHLBI,Hemophilia +What causes Hemophilia ?,"A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes (KRO-muh-somz). + +Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors. + +A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a ""hemophilia carrier and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding. + +Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females. + +Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child. + +Below are two examples of how the hemophilia gene is inherited. + +Inheritance Pattern for HemophiliaExample 1 + + + +Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia. + +Inheritance Pattern for HemophiliaExample 2 + + + +Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.",NHLBI,Hemophilia +What are the symptoms of Hemophilia ?,"The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. + +Excessive Bleeding + +The extent of bleeding depends on how severe the hemophilia is. + +Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision. + +Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding). + +Signs of external bleeding may include: + +Bleeding in the mouth from a cut or bite or from cutting or losing a tooth + +Nosebleeds for no obvious reason + +Heavy bleeding from a minor cut + +Bleeding from a cut that resumes after stopping for a short time + +Signs of internal bleeding may include: + +Blood in the urine (from bleeding in the kidneys or bladder) + +Blood in the stool (from bleeding in the intestines or stomach) + +Large bruises (from bleeding into the large muscles of the body) + +Bleeding in the Joints + +Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury. + +At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend. + +Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint. + +Bleeding in the Brain + +Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include: + +Long-lasting, painful headaches or neck pain or stiffness + +Repeated vomiting + +Sleepiness or changes in behavior + +Sudden weakness or clumsiness of the arms or legs or problems walking + +Double vision + +Convulsions or seizures",NHLBI,Hemophilia +How to diagnose Hemophilia ?,"If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. + +You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out: + +How long it takes for your blood to clot + +Whether your blood has low levels of any clotting factors + +Whether any clotting factors are completely missing from your blood + +The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is. + +Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood. + +The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia. + +Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults. + +The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different. + +Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies. + +Women who are hemophilia carriers also can have ""preimplantation diagnosis"" to have children who don't have hemophilia. + +For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb.",NHLBI,Hemophilia +What are the treatments for Hemophilia ?,"Treatment With Replacement Therapy + +The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low. + +Clotting factor concentrates can be made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small. + +To further reduce the risk, you or your child can take clotting factor concentrates that aren't made from human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at homeit only takes about 15 minutes to receive the factor. + +You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy. + +Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy. + +Complications of Replacement Therapy + +Complications of replacement therapy include: + +Developing antibodies (proteins) that attack the clotting factor + +Developing viral infections from human clotting factors + +Damage to joints, muscles, or other parts of the body resulting from delays in treatment + +Antibodies to the clotting factor. Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working. + +These antibodies, also called inhibitors, develop in about 2030 percent of people who have severe hemophilia A. Inhibitors develop in 25 percent of people who have hemophilia B. + +When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes the antibodies go away. + +Researchers are studying new ways to deal with antibodies to clotting factors. + +Viruses from human clotting factors. Clotting factors made from human blood can carry the viruses that cause HIV/AIDS and hepatitis. However, the risk of getting an infectious disease from human clotting factors is very small due to: + +Careful screening of blood donors + +Testing of donated blood products + +Treating donated blood products with a detergent and heat to destroy viruses + +Vaccinating people who have hemophilia for hepatitis A and B + +Damage to joints, muscles, and other parts of the body. Delays in treatment can cause damage such as: + +Bleeding into a joint. If this happens many times, it can lead to changes in the shape of the joint and impair the joint's function. + +Swelling of the membrane around a joint. + +Pain, swelling, and redness of a joint. + +Pressure on a joint from swelling, which can destroy the joint. + +Home Treatment With Replacement Therapy + +You can do both preventive (ongoing) and demand (as-needed) replacement therapy at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages: + +You or your child can get quicker treatment when bleeding happens. Early treatment lowers the risk of complications. + +Fewer visits to the doctor or emergency room are needed. + +Home treatment costs less than treatment in a medical care setting. + +Home treatment helps children accept treatment and take responsibility for their own health. + +Discuss options for home treatment with your doctor or your child's doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. Hemophilia treatment centers are another good resource for learning about home treatment (discussed in ""Living With Hemophilia). + +Doctors can surgically implant vein access devices to make it easier for you to access a vein for treatment with replacement therapy. These devices can be helpful if treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child. + +Other Types of Treatment + +Desmopressin + +Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A. + +DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer. + +DDAVP usually is given by injection or as nasal spray. Because the effect of this medicine wears off if it's used often, the medicine is given only in certain situations. For example, you may take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding. + +Antifibrinolytic Medicines + +Antifibrinolytic medicines (including tranexamic acid and epsilon aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down. + +These medicines most often are used before dental work or to treat bleeding from the mouth or nose or mild intestinal bleeding. + +Gene Therapy + +Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Gene therapy hasn't yet developed to the point that it's an accepted treatment for hemophilia. However, researchers continue to test gene therapy in clinical trials. + +For more information, go to the ""Clinical Trials"" section of this article. + +Treatment of a Specific Bleeding Site + +Pain medicines, steroids, and physical therapy may be used to reduce pain and swelling in an affected joint. Talk with your doctor or pharmacist about which medicines are safe for you to take. + +Which Treatment Is Best for You? + +The type of treatment you or your child receives depends on several things, including how severe the hemophilia is, the activities you'll be doing, and the dental or medical procedures you'll be having. + +Mild hemophiliaReplacement therapy usually isn't needed for mild hemophilia. Sometimes, though, DDAVP is given to raise the body's level of factor VIII. + +Moderate hemophiliaYou may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when doing certain activities. Your doctor also may recommend DDAVP prior to having a procedure or doing an activity that increases the risk of bleeding. + +Severe hemophiliaYou usually need replacement therapy to prevent bleeding that could damage your joints, muscles, or other parts of your body. Typically, replacement therapy is given at home two or three times a week. This preventive therapy usually is started in patients at a young age and may need to continue for life. + +For both types of hemophilia, getting quick treatment for bleeding is important. Quick treatment can limit damage to your body. If you or your child has hemophilia, learn to recognize signs of bleeding. + +Other family members also should learn to watch for signs of bleeding in a child who has hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment.",NHLBI,Hemophilia +What is (are) Coronary Heart Disease ?,"Espaol + +Coronary heart disease (CHD) is a disease in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. + +When plaque builds up in the arteries, the condition is called atherosclerosis. The buildup of plaque occurs over many years. + +Atherosclerosis + + + +Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. + +If the plaque ruptures, a blood clot can form on its surface. A large blood clot can mostly or completely block blood flow through a coronary artery. Over time, ruptured plaque also hardens and narrows the coronary arteries. + +Overview + +If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina or a heart attack can occur. + +Angina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also can occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. + +A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious health problems or death. + +Over time, CHD can weaken the heart muscle and lead to heart failure and arrhythmias. Heart failure is a condition in which your heart can't pump enough blood to meet your bodys needs. Arrhythmias are problems with the rate or rhythm of the heartbeat. + +Outlook + +Lifestyle changes, medicines, and medical procedures can help prevent or treat coronary heart disease. These treatments may reduce the risk of related health problems.",NHLBI,Coronary Heart Disease +What causes Coronary Heart Disease ?,"Research suggests that coronary heart disease (CHD) starts when certain factors damage the inner layers of the coronary arteries. These factors include: + +Smoking + +High levels of certain fats and cholesterol in the blood + +High blood pressure + +High levels of sugar in the blood due to insulin resistance or diabetes + +Blood vessel inflammation + +Plaque might begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood. + +Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. This can cause angina (chest pain or discomfort). + +If the plaque ruptures, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots. + +Blood clots can further narrow the coronary arteries and worsen angina. If a clot becomes large enough, it can mostly or completely block a coronary artery and cause a heart attack.",NHLBI,Coronary Heart Disease +Who is at risk for Coronary Heart Disease? ?,"In the United States, coronary heart disease (CHD) is a leading cause of death for both men and women. Each year, about 370,000 Americans die from coronary heart disease. + +Certain traits, conditions, or habits may raise your risk for CHD. The more risk factors you have, the more likely you are to develop the disease. + +You can control many risk factors, which may help prevent or delay CHD. + +Major Risk Factors + +Unhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called bad cholesterol) and low HDL cholesterol (sometimes called good cholesterol). + +High blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the body's tissues. + +Insulin resistance. This condition occurs if the body can't use its own insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used for energy. Insulin resistance may lead to diabetes. + +Diabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly. + +Overweight or obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height. + +Metabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke. + +Lack of physical activity. Being physically inactive can worsen other risk factors for CHD, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity. + +Unhealthy diet. An unhealthy diet can raise your risk for CHD. Foods that are high in saturated and trans fats, cholesterol, sodium, and sugar can worsen other risk factors for CHD. + +Older age. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. In men, the risk for coronary heart disease increases starting at age 45. In women, the risk for coronary heart disease increases starting at age 55. + +A family history of early coronary heart disease is a risk factor for developing coronary heart disease, specifically if a father or brother is diagnosed before age 55, or a mother or sister is diagnosed before age 65. + +Although older age and a family history of early heart disease are risk factors, it doesn't mean that youll develop CHD if you have one or both. Controlling other risk factors often can lessen genetic influences and help prevent CHD, even in older adults. + +Emerging Risk Factors + +Researchers continue to study other possible risk factors for CHD. + +High levels of a protein called C-reactive protein (CRP) in the blood may raise the risk of CHD and heart attack. High levels of CRP are a sign of inflammation in the body. + +Inflammation is the body's response to injury or infection. Damage to the arteries' inner walls may trigger inflammation and help plaque grow. + +Research is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk of CHD and heart attack. + +High levels of triglycerides in the blood also may raise the risk of CHD, especially in women. Triglycerides are a type of fat. + +Other Risks Related to Coronary Heart Disease + +Other conditions and factors also may contribute to CHD, including: + +Sleep apnea. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can increase your risk for high blood pressure, diabetes, and even a heart attack or stroke. + +Stress. Research shows that the most commonly reported ""trigger"" for a heart attack is an emotionally upsetting event, especially one involving anger. + +Alcohol. Heavy drinking can damage the heart muscle and worsen other CHD risk factors. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. + +Preeclampsia. This condition can occur during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure. + +For more detailed information, go to the Health Topics Coronary Heart Disease Risk Factors article.",NHLBI,Coronary Heart Disease +What are the symptoms of Coronary Heart Disease ?,"A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. + +Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain. + +Another common symptom of CHD is shortness of breath. This symptom occurs if CHD causes heart failure. When you have heart failure, your heart can't pump enough blood to meet your bodys needs. Fluid builds up in your lungs, making it hard to breathe. + +The severity of these symptoms varies. They may get more severe as the buildup of plaque continues to narrow the coronary arteries. + +Signs and Symptoms of Heart Problems Related to Coronary Heart Disease + +Some people who have CHD have no signs or symptomsa condition called silent CHD. The disease might not be diagnosed until a person has signs or symptoms of a heart attack, heart failure, or an arrhythmia (an irregular heartbeat). + +Heart Attack + +A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. This can happen if an area of plaque in a coronary artery ruptures (breaks open). + +Blood cell fragments called platelets stick to the site of the injury and may clump together to form blood clots. If a clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. + +If the blockage isnt treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems. + +Heart With Muscle Damage and a Blocked Artery + + + + + +The most common heart attack symptom is chest pain or discomfort. Most heart attacks involve discomfort in the center or left side of the chest that often lasts for more than a few minutes or goes away and comes back. + +The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. The feeling can be mild or severe. Heart attack pain sometimes feels like indigestion or heartburn. + +The symptoms of angina can be similar to the symptoms of a heart attack. Angina pain usually lasts for only a few minutes and goes away with rest. + +Chest pain or discomfort that doesnt go away or changes from its usual pattern (for example, occurs more often or while youre resting) might be a sign of a heart attack. If you dont know whether your chest pain is angina or a heart attack, call 911. + +All chest pain should be checked by a doctor. + +Other common signs and symptoms of a heart attack include: + +Upper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach + +Shortness of breath, which may occur with or before chest discomfort + +Nausea (feeling sick to your stomach), vomiting, light-headedness or fainting, or breaking out in a cold sweat + +Sleep problems, fatigue (tiredness), or lack of energy + +For more information, go to the Health Topics Heart Attack article. + +Heart Failure + +Heart failure is a condition in which your heart can't pump enough blood to meet your bodys needs. Heart failure doesn't mean that your heart has stopped or is about to stop working. + +The most common signs and symptoms of heart failure are shortness of breath or trouble breathing; fatigue; and swelling in the ankles, feet, legs, stomach, and veins in the neck. + +All of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs. + +For more information, go to the Health Topics Heart Failure article. + +Arrhythmia + +An arrhythmia is a problem with the rate or rhythm of the heartbeat. When you have an arrhythmia, you may notice that your heart is skipping beats or beating too fast. + +Some people describe arrhythmias as a fluttering feeling in the chest. These feelings are called palpitations (pal-pih-TA-shuns). + +Some arrhythmias can cause your heart to suddenly stop beating. This condition is called sudden cardiac arrest (SCA). SCA usually causes death if it's not treated within minutes. + +For more information, go to the Health Topics Arrhythmia article.",NHLBI,Coronary Heart Disease +How to diagnose Coronary Heart Disease ?,"Your doctor will diagnose coronary heart disease (CHD) based on your medical and family histories, your risk factors for CHD, a physical exam, and the results from tests and procedures. + +No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. + +Stress Testing + +During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to raise your heart rate. + +When your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs. + +A stress test can show possible signs and symptoms of CHD, such as: + +Abnormal changes in your heart rate or blood pressure + +Shortness of breath or chest pain + +Abnormal changes in your heart rhythm or your heart's electrical activity + +If you can't exercise for as long as what is considered normal for someone your age, your heart may not be getting enough oxygen-rich blood. However, other factors also can prevent you from exercising long enough (for example, lung diseases, anemia, or poor general fitness). + +As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in your heart and how well your heart pumps blood when it beats. + +Echocardiography + +Echocardiography(echo) uses sound waves to create a moving picture of your heart. The picture shows the size and shape of your heart and how well your heart chambers and valves are working. + +Echo also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +Chest X Ray + +A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. + +A chest x ray can reveal signs of heart failure, as well as lung disorders and other causes of symptoms not related to CHD. + +Blood Tests + +Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels might be a sign that you're at risk for CHD. + +Coronary Angiography and Cardiac Catheterization + +Your doctor may recommend coronary angiography (an-jee-OG-rah-fee) if other tests or factors show that you're likely to have CHD. This test uses dye and special x rays to show the insides of your coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-eh-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. + +Cardiac catheterization usually is done in a hospital. You're awake during the procedure. It usually causes little or no pain, although you may feel some soreness in the blood vessel where your doctor inserts the catheter.",NHLBI,Coronary Heart Disease +What are the treatments for Coronary Heart Disease ?,"Treatments for coronary heart disease include heart-healthy lifestyle changes, medicines, medical procedures and surgery, and cardiac rehabilitation. Treatment goals may include: + +Lowering the risk of blood clots forming (blood clots can cause a heart attack) + +Preventing complications of coronary heart disease + +Reducing risk factors in an effort to slow, stop, or reverse the buildup of plaque + +Relieving symptoms + +Widening or bypassing clogged arteries + + + +Heart-Healthy Lifestyle Changes + +Your doctor may recommend heart-healthy lifestyle changes if you have coronary heart disease. Heart-healthy lifestyle changes include: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + + + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as fat-free milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + + + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Routine physical activity can lower many coronary heart disease risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. Read more about quitting smoking at Smoking and Your Heart. + + + +Medicines + +Sometimes lifestyle changes arent enough to control your blood cholesterol levels. For example, you may need statin medications to control or lower your cholesterol. By lowering your cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have: + +Coronary heart disease, peripheral artery disease, or had a stroke + +Diabetes + +High LDL cholesterol levels + +Doctors may discuss beginning statin treatment with those who have an elevated risk for developing heart disease or having a stroke. + +Your doctor also may prescribe other medications to: + +Decrease your chance of having a heart attack or dying suddenly. + +Lower your blood pressure. + +Prevent blood clots, which can lead to heart attack or stroke. + +Prevent or delay the need for a stent or percutaneous coronary intervention (PCI) or surgery, such as coronary artery bypass grafting (CABG). + +Reduce your hearts workload and relieve coronary heart disease symptoms. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your coronary heart disease. + + + +Medical Procedures and Surgery + +You may need a procedure or surgery to treat coronary heart disease. Both PCIand CABG are used to treat blocked coronary arteries. You and your doctor can discuss which treatment is right for you. + +Percutaneous Coronary Intervention + +Percutaneous coronary intervention, commonly known as angioplasty, is a nonsurgical procedure that opens blocked or narrowed coronary arteries. A thin, flexible tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. Once in place, the balloon is inflated to compress the plaque against the wall of the artery. This restores blood flow through the artery. + +During the procedure, the doctor may put a small mesh tube called a stent in the artery. The stent helps prevent blockages in the artery in the months or years after angioplasty. Read more about this procedure at PCI. + +Coronary Artery Bypass Grafting + +CABG is a type of surgery in which arteries or veins from other areas in your body are used to bypass (that is, go around) your narrowed coronary arteries. CABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack. + +Read more about this surgery at CABG. + +Cardiac Rehabilitation + +Your doctor may prescribe cardiac rehabilitation (rehab) for angina or after CABG, angioplasty, or a heart attack. Nearly everyone who has coronary heart disease can benefit from cardiac rehab. Cardiac rehab is a medically supervised program that may help improve the health and well-being of people who have heart problems. + +The cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists. + +Rehab has two parts: + +Education, counseling, and training. This part of rehab helps you understand your heart condition and find ways to reduce your risk for future heart problems. The rehab team will help you learn how to cope with the stress of adjusting to a new lifestyle and how to deal with your fears about the future. + +Exercise training. This part helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests. + +Read more about this therapy at Cardiac Rehabilitation.",NHLBI,Coronary Heart Disease +How to prevent Coronary Heart Disease ?,"You can prevent and control coronary heart disease (CHD)by taking action to control your risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. Only a few risk factorssuch as age, gender, and family historycant be controlled. + +Your risk for CHD increases with the number of risk factors you have. To reduce your risk of CHD and heart attack, try to control each risk factor you have by adopting the following heart-healthy lifestyles: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Know your family history of health problems related to CHD. If you or someone in your family has CHD, be sure to tell your doctor. If lifestyle changes aren't enough, you also may need medicines to control your CHD risk factors.",NHLBI,Coronary Heart Disease +What is (are) Vasculitis ?,"Vasculitis (vas-kyu-LI-tis) is a condition that involves inflammation in the blood vessels. The condition occurs if your immune system attacks your blood vessels by mistake. This may happen as the result of an infection, a medicine, or another disease or condition. + +Inflammation refers to the bodys response to injury, including injury to the blood vessels. Inflammation may involve pain, redness, warmth, swelling, and loss of function in the affected tissues. + +In vasculitis, inflammation can lead to serious problems. Complications depend on which blood vessels, organs, or other body systems are affected. + +Overview + +Vasculitis can affect any of the body's blood vessels. These include arteries, veins, and capillaries. Arteries carry blood from your heart to your body's organs. Veins carry blood from your organs and limbs back to your heart. Capillaries connect the small arteries and veins. + +If a blood vessel is inflamed, it can narrow or close off. This limits or prevents blood flow through the vessel. Rarely, the blood vessel will stretch and weaken, causing it to bulge. This bulge is known as an aneurysm (AN-u-rism). + +Vasculitis + + + +The disruption in blood flow caused by inflammation can damage the body's organs. Signs and symptoms depend on which organs have been damaged and the extent of the damage. + +Typical symptoms of inflammation, such as fever and general aches and pains, are common among people who have vasculitis. + +Outlook + +There are many types of vasculitis, but overall the condition is rare. If you have vasculitis, the outlook depends on: + +The type of vasculitis you have + +Which organs are affected + +How quickly the condition worsens + +The severity of the condition + +Treatment often works well if its started early. In some cases, vasculitis may go into remission. ""Remission"" means the condition isn't active, but it can come back, or ""flare,"" at any time. + +Sometimes vasculitis is chronic (ongoing) and never goes into remission. Long-term treatment with medicines often can control the signs and symptoms of chronic vasculitis. + +Rarely, vasculitis doesn't respond well to treatment. This can lead to disability and even death. + +Much is still unknown about vasculitis. However, researchers continue to learn more about the condition and its various types, causes, and treatments.",NHLBI,Vasculitis +What causes Vasculitis ?,"Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known. + +A recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine. + +Sometimes an autoimmune disorder triggers vasculitis. Autoimmune disorders occur if the immune system makes antibodies (proteins) that attack and damage the body's own tissues or cells. Examples of these disorders include lupus, rheumatoid arthritis, and scleroderma. You can have these disorders for years before developing vasculitis. + +Vasculitis also may be linked to certain blood cancers, such as leukemia and lymphoma.",NHLBI,Vasculitis +Who is at risk for Vasculitis? ?,"Vasculitis can affect people of all ages and races and both sexes. Some types of vasculitis seem to occur more often in people who: + +Have certain medical conditions, such as chronic hepatitis B or C infection + +Have certain autoimmune diseases, such a lupus, rheumatoid arthritis, and scleroderma + +Smoke + +For more information, go to ""Types of Vasculitis.""",NHLBI,Vasculitis +What are the symptoms of Vasculitis ?,"The signs and symptoms of vasculitis vary. They depend on the type of vasculitis you have, the organs involved, and the severity of the condition. Some people may have few signs and symptoms. Other people may become very sick. + +Sometimes the signs and symptoms develop slowly, over months. Other times, the signs and symptoms develop quickly, over days or weeks. + +Systemic Signs and Symptoms + +Systemic signs and symptoms are those that affect you in a general or overall way. Common systemic signs and symptoms of vasculitis are: + +Fever + +Loss of appetite + +Weight loss + +Fatigue (tiredness) + +General aches and pains + +Organ- or Body System-Specific Signs and Symptoms + +Vasculitis can affect specific organs and body systems, causing a range of signs and symptoms. + +Skin + +If vasculitis affects your skin, you may notice skin changes. For example, you may have purple or red spots or bumps, clusters of small dots, splotches, bruises, or hives. Your skin also may itch. + +Joints + +If vasculitis affects your joints, you may ache or develop arthritis in one or more joints. + +Lungs + +If vasculitis affects your lungs, you may feel short of breath. You may even cough up blood. The results from a chest x ray may show signs that suggest pneumonia, even though that may not be what you have. + +Gastrointestinal Tract + +If vasculitis affects your gastrointestinal tract, you may get ulcers (sores) in your mouth or have stomach pain. + +In severe cases, blood flow to the intestines can be blocked. This can cause the wall of the intestines to weaken and possibly rupture (burst). A rupture can lead to serious problems or even death. + +Sinuses, Nose, Throat, and Ears + +If vasculitis affects your sinuses, nose, throat, and ears, you may have sinus or chronic (ongoing) middle ear infections. Other symptoms include ulcers in the nose and, in some cases, hearing loss. + +Eyes + +If vasculitis affects your eyes, you may develop red, itchy, burning eyes. Your eyes also may become sensitive to light, and your vision may blur. Rarely, certain types of vasculitis may cause blindness. + +Brain + +If vasculitis affects your brain, symptoms may include headaches, problems thinking clearly, changes in mental function, or stroke-like symptoms, such as muscle weakness and paralysis (an inability to move). + +Nerves + +If vasculitis affects your nerves, you may have numbness, tingling, and weakness in various parts of your body. You also may have a loss of feeling or strength in your hands and feet and shooting pains in your arms and legs.",NHLBI,Vasculitis +How to diagnose Vasculitis ?,"Your doctor will diagnose vasculitis based on your signs and symptoms, your medical history, a physical exam, and test results. + +Specialists Involved + +Depending on the type of vasculitis you have and the organs affected, your doctor may refer you to various specialists, including: + +A rheumatologist (joint and muscle specialist) + +An infectious disease specialist + +A dermatologist (skin specialist) + +A pulmonologist (lung specialist) + +A nephrologist (kidney specialist) + +A neurologist (nervous system specialist) + +A cardiologist (heart specialist) + +An ophthalmologist (eye specialist) + +A urologist (urinary tract and urogenital system specialist) + +Diagnostic Tests and Procedures + +Many tests are used to diagnose vasculitis. + +Blood Tests + +Blood tests can show whether you have abnormal levels of certain blood cells and antibodies (proteins) in your blood. These tests may look at: + +Hemoglobin and hematocrit. A low hemoglobin or hematocrit level suggests anemia, a complication of vasculitis. Vasculitis can interfere with the body's ability to make enough red blood cells. Vasculitis also can be linked to increased destruction of red blood cells. + +Antineutrophil cytoplasmic antibodies (ANCA). These antibodies are present in people who have certain types of vasculitis. + +Erythrocyte sedimentation rate (ESR). A high ESR may be a sign of inflammation in the body. + +The amount of C-reactive protein (CRP) in your blood. A high CRP level suggests inflammation. + +Biopsy + +A biopsy often is the best way for your doctor to make a firm diagnosis of vasculitis. During a biopsy, your doctor will take a small sample of your body tissue to study under a microscope. He or she will take the tissue sample from a blood vessel or an organ. + +A pathologist will study the sample for signs of inflammation or tissue damage. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. + +Blood Pressure + +People who have vasculitis should have their blood pressure checked routinely. Vasculitis that damages the kidneys can cause high blood pressure. + +Urinalysis + +For this test, you'll provide a urine sample for analysis. This test detects abnormal levels of protein or blood cells in the urine. Abnormal levels of these substances can be a sign of vasculitis affecting the kidneys. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. You might have this test to show whether vasculitis is affecting your heart. + +Echocardiography + +Echocardiography is a painless test that uses sound waves to create a moving picture of your heart. The test gives information about the size and shape of your heart and how well your heart chambers and valves are working. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. Abnormal chest x-ray results may show whether vasculitis is affecting your lungs or your large arteries (such as the aorta or the pulmonary arteries). + +Lung Function Tests + +Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. + +Lung function tests can help your doctor find out whether airflow into and out of your lungs is restricted or blocked. + +Abdominal Ultrasound + +An abdominal ultrasound uses sound waves to create a picture of the organs and structures in your abdomen. The picture may show whether vasculitis is affecting your abdominal organs. + +Computed Tomography Scan + +A computed tomography (to-MOG-rah-fee) scan, or CT scan, is a type of x ray that creates more detailed pictures of your internal organs than a standard x ray. The results from this test can show whether you have a type of vasculitis that affects your abdominal organs or blood vessels. + +Magnetic Resonance Imaging + +A magnetic resonance imaging (MRI) test uses radio waves, magnets, and a computer to create detailed pictures of your internal organs. + +Other Advanced Imaging Techniques + +Several new imaging techniques are now being used to help diagnose vasculitis. Duplex ultrasonography combines an image of the structure of the blood vessel with a color image of the blood flow through that vein or artery. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) identifies areas that show higher glucose metabolism leading to problems in the blood vessels. + +Angiography + +Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show blood flowing through your blood vessels. + +The dye is injected into your bloodstream. Special x-ray pictures are taken while the dye flows through your blood vessels. The dye helps highlight the vessels on the x-ray pictures. + +Doctors use angiography to help find out whether blood vessels are narrowed, swollen, deformed, or blocked.",NHLBI,Vasculitis +What are the treatments for Vasculitis ?,"Treatment for vasculitis will depend on the type of vasculitis you have, which organs are affected, and the severity of the condition. + +People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. + +The main goal of treating vasculitis is to reduce inflammation in the affected blood vessels. This usually is done by reducing or stopping the immune response that caused the inflammation. + +Types of Treatment + +Common prescription medicines used to treat vasculitis include corticosteroids and cytotoxic medicines. + +Corticosteroids help reduce inflammation in your blood vessels. Examples of corticosteroids are prednisone, prednisolone, and methylprednisolone. + +Doctors may prescribe cytotoxic medicines if vasculitis is severe or if corticosteroids don't work well. Cytotoxic medicines kill the cells that are causing the inflammation. Examples of these medicines are azathioprine, methotrexate, and cyclophosphamide. + +Your doctor may prescribe both corticosteroids and cytotoxic medicines. + +Other treatments may be used for certain types of vasculitis. For example, the standard treatment for Kawasaki disease is high-dose aspirin and immune globulin. Immune globulin is a medicine thats injected into a vein. + +Certain types of vasculitis may require surgery to remove aneurysms that have formed as a result of the condition. (An aneurysm is an abnormal bulge in the wall of a blood vessel.)",NHLBI,Vasculitis +How to prevent Vasculitis ?,"You can't prevent vasculitis. However, treatment can help prevent or delay the complications of vasculitis. + +People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. + +For more information about vasculitis treatments, go to ""How Is Vasculitis Treated?""",NHLBI,Vasculitis +What is (are) High Blood Cholesterol ?,"To understand high blood cholesterol (ko-LES-ter-ol), it helps to learn about cholesterol. Cholesterol is a waxy, fat-like substance thats found in all cells of the body. + +Your body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. Your body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods you eat. + +Cholesterol travels through your bloodstream in small packages called lipoproteins (lip-o-PRO-teens). These packages are made of fat (lipid) on the inside and proteins on the outside. + +Two kinds of lipoproteins carry cholesterol throughout your body: low-density lipoproteins (LDL) and high-density lipoproteins (HDL). Having healthy levels of both types of lipoproteins is important. + +LDL cholesterol sometimes is called bad cholesterol. A high LDL level leads to a buildup of cholesterol in your arteries. (Arteries are blood vessels that carry blood from your heart to your body.) + +HDL cholesterol sometimes is called good cholesterol. This is because it carries cholesterol from other parts of your body back to your liver. Your liver removes the cholesterol from your body. + +What Is High Blood Cholesterol? + +High blood cholesterol is a condition in which you have too much cholesterol in your blood. By itself, the condition usually has no signs or symptoms. Thus, many people dont know that their cholesterol levels are too high. + +People who have high blood cholesterol have a greater chance of getting coronary heart disease, also called coronary artery disease. (In this article, the term heart disease refers to coronary heart disease.) + +The higher the level of LDL cholesterol in your blood, the GREATER your chance is of getting heart disease. The higher the level of HDL cholesterol in your blood, the LOWER your chance is of getting heart disease. + +Coronary heart disease is a condition in which plaque (plak) builds up inside the coronary (heart) arteries. Plaque is made up of cholesterol, fat, calcium, and other substances found in the blood. When plaque builds up in the arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis). + +Atherosclerosis + + + +Over time, plaque hardens and narrows your coronary arteries. This limits the flow of oxygen-rich blood to the heart. + +Eventually, an area of plaque can rupture (break open). This causes a blood clot to form on the surface of the plaque. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. + +If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina (an-JI-nuh or AN-juh-nuh) or a heart attack may occur. + +Angina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also may occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. + +A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious problems or death. + +Plaque also can build up in other arteries in your body, such as the arteries that bring oxygen-rich blood to your brain and limbs. This can lead to problems such as carotid artery disease, stroke, and peripheral artery disease. + +Outlook + +Lowering your cholesterol may slow, reduce, or even stop the buildup of plaque in your arteries. It also may reduce the risk of plaque rupturing and causing dangerous blood clots. + + + +Sources: National Center for Health Statistics (20072010). National Health and Nutrition Examination Survey; National Center for Health Statistics (20052008). National Health and Nutrition Examination Survey; National Heart, Lung, and Blood Institute, National Cholesterol Education Program (2002). Third report of the National Cholesterol Education Program (NCEP) exert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report.",NHLBI,High Blood Cholesterol +What causes High Blood Cholesterol ?,"Many factors can affect the cholesterol levels in your blood. You can control some factors, but not others. + +Factors You Can Control + +Diet + +Cholesterol is found in foods that come from animal sources, such as egg yolks, meat, and cheese. Some foods have fats that raise your cholesterol level. + +For example, saturated fat raises your low-density lipoprotein (LDL) cholesterol level more than anything else in your diet. Saturated fat is found in some meats, dairy products, chocolate, baked goods, and deep-fried and processed foods. + +Trans fatty acids (trans fats) raise your LDL cholesterol and lower your high-density lipoprotein (HDL) cholesterol. Trans fats are made when hydrogen is added to vegetable oil to harden it. Trans fats are found in some fried and processed foods. + +Limiting foods with cholesterol, saturated fat, and trans fats can help you control your cholesterol levels. + +Physical Activity and Weight + +Lack of physical activity can lead to weight gain. Being overweight tends to raise your LDL level, lower your HDL level, and increase your total cholesterol level. (Total cholesterol is a measure of the total amount of cholesterol in your blood, including LDL and HDL.) + +Routine physical activity can help you lose weight and lower your LDL cholesterol. Being physically active also can help you raise your HDL cholesterol level. + +Factors You Cant Control + +Heredity + +High blood cholesterol can run in families. An inherited condition called familial hypercholesterolemia causes very high LDL cholesterol. (Inherited means the condition is passed from parents to children through genes.) This condition begins at birth, and it may cause a heart attack at an early age. + +Age and Sex + +Starting at puberty, men often have lower levels of HDL cholesterol than women. As women and men age, their LDL cholesterol levels often rise. Before age 55, women usually have lower LDL cholesterol levels than men. However, afterage 55, women can have higher LDL levels than men.",NHLBI,High Blood Cholesterol +What are the symptoms of High Blood Cholesterol ?,"High blood cholesterol usually has no signs or symptoms. Thus, many people don't know that their cholesterol levels are too high. + +If you're 20 years old or older, have your cholesterol levels checked at least once every 5 years. Talk with your doctor about how often you should be tested.",NHLBI,High Blood Cholesterol +How to diagnose High Blood Cholesterol ?,"Your doctor will diagnose high blood cholesterol by checking the cholesterol levels in your blood. A blood test called a lipoprotein panel can measure your cholesterol levels. Before the test, youll need to fast (not eat or drink anything but water) for 9 to 12 hours. + +The lipoprotein panel will give your doctor information about your: + +Total cholesterol. Total cholesterol is a measure of the total amount of cholesterol in your blood, including low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol. + +LDL cholesterol. LDL, or bad, cholesterol is the main source of cholesterol buildup and blockages in the arteries. + +HDL cholesterol. HDL, or good, cholesterol helps remove cholesterol from your arteries. + +Triglycerides (tri-GLIH-seh-rides). Triglycerides are a type of fat found in your blood. Some studies suggest that a high level of triglycerides in the blood may raise the risk of coronary heart disease, especially in women. + +If its not possible to have a lipoprotein panel, knowing your total cholesterol and HDL cholesterol can give you a general idea about your cholesterol levels. + +Testing for total and HDL cholesterol does not require fasting. If your total cholesterol is 200 mg/dL or more, or if your HDL cholesterol is less than 40 mg/dL, your doctor will likely recommend that you have a lipoprotein panel. (Cholesterol is measured as milligrams (mg) of cholesterol per deciliter (dL) of blood.) + +The tables below show total, LDL, and HDL cholesterol levels and their corresponding categories. See how your cholesterol numbers compare to the numbers in the tables below. + + + + + + + + + +Triglycerides also can raise your risk for heart disease. If your triglyceride level is borderline high (150199 mg/dL) or high (200 mg/dL or higher), you may need treatment. + +Factors that can raise your triglyceride level include: + +Overweight and obesity + +Lack of physical activity + +Cigarette smoking + +Excessive alcohol use + +A very high carbohydrate diet + +Certain diseases and medicines + +Some genetic disorders",NHLBI,High Blood Cholesterol +What are the treatments for High Blood Cholesterol ?,"High blood cholesterol is treated with lifestyle changes and medicines. The main goal of treatment is to lower your low-density lipoprotein (LDL) cholesterol level enough to reduce your risk for coronary heart disease, heart attack, and other related health problems. + +Your risk for heart disease and heart attack goes up as your LDL cholesterol level rises and your number of heart disease risk factors increases. + +Some people are at high risk for heart attacks because they already have heart disease. Other people are at high risk for heart disease because they have diabetes or more than one heart disease risk factor. + +Talk with your doctor about lowering your cholesterol and your risk for heart disease. Also, check the list to find out whether you have risk factors that affect your LDL cholesterol goal: + +Cigarette smoking + +High blood pressure (140/90 mmHg or higher), or youre on medicine to treat high blood pressure + +Low high-density lipoprotein (HDL) cholesterol (less than 40 mg/dL) + +Family history of early heart disease (heart disease in father or brother before age 55; heart disease in mother or sister before age 65) + +Age (men 45 years or older; women 55 years or older) + +You can use the NHLBI 10-Year Risk Calculator to find your risk score. The score, given as a percentage, refers to your chance of having a heart attack in the next 10years. + +Based on your medical history, number of risk factors, and risk score, figure out your risk of getting heart disease or having a heart attack using the table below. + +* Some people in this category are at very high risk because theyve just had a heart attack or they have diabetes and heart disease, severe risk factors, or metabolic syndrome. If youre at very high risk, your doctor may set your LDL goal even lower, to less than 70 mg/dL. Your doctor also may set your LDL goal at this lower level if you have heart disease alone. + +After following the above steps, you should have an idea about your risk for heart disease and heart attack. The two main ways to lower your cholesterol (and, thus, your heart disease risk) include: + +Therapeutic Lifestyle Changes (TLC). TLC is a three-part program that includes a healthy diet, weight management, and physical activity. TLC is for anyone whose LDL cholesterol level is above goal. + +Medicines. If cholesterol-lowering medicines are needed, theyre used with the TLC program to help lower your LDL cholesterol level. + +Your doctor will set your LDL goal. The higher your risk for heart disease, the lower he or she will set your LDL goal. Using the following guide, you and your doctor can create a plan for treating your high blood cholesterol. + +Category I, high risk, your LDL goal is less than 100 mg/dL.* + +* Your LDL goal may be set even lower, to less than 70 mg/dL, if youre at very high risk or if you have heart disease. If you have this lower goal and your LDL is 70 mg/dL or higher, youll need to begin the TLC diet and take medicines as prescribed. + +Category II, moderately high risk, your LDL goal is less than 130 mg/dL + +Category III, moderate risk, your LDL goal is less than 130 mg/dL. + +Category IV, low to moderate risk, your LDL goal is less than 160 mg/dL. + + + +Lowering Cholesterol Using Therapeutic Lifestyle Changes + + + +TLC is a set of lifestyle changes that can help you lower your LDL cholesterol. The main parts of the TLC program are a healthy diet, weight management, and physical activity. + +The TLC Diet + +With the TLC diet, less than 7 percent of your daily calories should come from saturated fat. This kind of fat is found in some meats, dairy products, chocolate, baked goods, and deep-fried and processed foods. + +No more than 25 to 35 percent of your daily calories should come from all fats, including saturated, trans, monounsaturated, and polyunsaturated fats. + +You also should have less than 200 mg a day of cholesterol. The amounts of cholesterol and the types of fat in prepared foods can be found on the foods' Nutrition Facts labels. + +Foods high in soluble fiber also are part of the TLC diet. They help prevent the digestive tract from absorbing cholesterol. These foods include: + +Whole-grain cereals such as oatmeal and oat bran + +Fruits such as apples, bananas, oranges, pears, and prunes + +Legumes such as kidney beans, lentils, chick peas, black-eyed peas, and lima beans + +A diet rich in fruits and vegetables can increase important cholesterol-lowering compounds in your diet. These compounds, called plant stanols or sterols, work like soluble fiber. + +A healthy diet also includes some types of fish, such as salmon, tuna (canned or fresh), and mackerel. These fish are a good source of omega-3 fatty acids. These acids may help protect the heart from blood clots and inflammation and reduce the risk of heart attack. Try to have about two fish meals every week. + +You also should try to limit the amount of sodium (salt) that you eat. This means choosing low-salt and ""no added salt"" foods and seasonings at the table or while cooking. The Nutrition Facts label on food packaging shows the amount of sodium in the item. + +Try to limit drinks with alcohol. Too much alcohol will raise your blood pressure and triglyceride level. (Triglycerides are a type of fat found in the blood.) Alcohol also adds extra calories, which will cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is a glass of wine, beer, or a small amount of hard liquor. + +For more information about TLC, go to the National Heart, Lung, and Blood Institutes (NHLBIs) ""Your Guide to Lowering Your Cholesterol With TLC."" + +Weight Management + +If youre overweight or obese, losing weight can help lower LDL cholesterol. Maintaining a healthy weight is especially important if you have a condition called metabolic syndrome. + +Metabolic syndrome is the name for a group of risk factors that raise your risk for heart disease and other health problems, such as diabetes and stroke. + +The five metabolic risk factors are a large waistline (abdominal obesity), a high triglyceride level, a low HDL cholesterol level, high blood pressure, and high blood sugar. Metabolic syndrome is diagnosed if you have at least three of these metabolic risk factors. + +Physical Activity + +Routine physical activity can lower LDL cholesterol and triglycerides and raise your HDL cholesterol level. + +People gain health benefits from as little as 60 minutes of moderate-intensity aerobic activity per week. The more active you are, the more you will benefit. + +For more information about physical activity, go to the U.S. Department of Health and Human Services' ""2008 Physical Activity Guidelines for Americans,"" the Health Topics Physical Activity and Your Heart article, and the NHLBI's ""Your Guide to Physical Activity and Your Heart."" + +Cholesterol-Lowering Medicines + +In addition to lifestyle changes, your doctor may prescribe medicines to help lower your cholesterol. Even with medicines, you should continue the TLC program. + +Medicines can help control high blood cholesterol, but they dont cure it. Thus, you must continue taking your medicine to keep your cholesterol level in the recommended range. + +The five major types of cholesterol-lowering medicines are statins, bile acid sequestrants (seh-KWES-trants), nicotinic (nick-o-TIN-ick) acid, fibrates, and ezetimibe. + +Statins work well at lowering LDL cholesterol. These medicines are safe for most people. Rare side effects include muscle and liver problems. + +Bile acid sequestrants also help lower LDL cholesterol. These medicines usually arent prescribed as the only medicine to lower cholesterol. Sometimes theyre prescribed with statins. + +Nicotinic acid lowers LDL cholesterol and triglycerides and raises HDL cholesterol. You should only use this type of medicine with a doctors supervision. + +Fibrates lower triglycerides, and they may raise HDL cholesterol. When used with statins, fibrates may increase the risk of muscle problems. + +Ezetimibe lowers LDL cholesterol. This medicine works by blocking the intestine from absorbing cholesterol. + +While youre being treated for high blood cholesterol, youll need ongoing care. Your doctor will want to make sure your cholesterol levels are controlled. He or she also will want to check for other health problems. + +If needed, your doctor may prescribe medicines for other health problems. Take all medicines exactly as your doctor prescribes. The combination of medicines may lower your risk for heart disease and heart attack. + +While trying to manage your cholesterol, take steps to manage other heart disease risk factors too. For example, if you have high blood pressure, work with your doctor to lower it. + +If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. If youre overweight or obese, try to lose weight. Your doctor can help you create a reasonable weight-loss plan.",NHLBI,High Blood Cholesterol +What is (are) Patent Ductus Arteriosus ?,"Patent ductus arteriosus (PDA) is a heart problem that occurs soon after birth in some babies. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. + +Before birth, the two major arteriesthe aorta and the pulmonary (PULL-mun-ary) arteryare connected by a blood vessel called the ductus arteriosus. This vessel is an essential part of fetal blood circulation. + +Within minutes or up to a few days after birth, the vessel is supposed to close as part of the normal changes occurring in the baby's circulation. + +In some babies, however, the ductus arteriosus remains open (patent). This opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can put strain on the heart and increase blood pressure in the lung arteries. + +Normal Heart and Heart With Patent Ductus Arteriosus + + + +Go to the ""How the Heart Works"" section of this article for more details about how a normal heart works compared with a heart that has PDA. + +Overview + +PDA is a type of congenital (kon-JEN-ih-tal) heart defect. A congenital heart defect is any type of heart problem that's present at birth. + +If your baby has a PDA but an otherwise normal heart, the PDA may shrink and go away. However, some children need treatment to close their PDAs. + +Some children who have PDAs are given medicine to keep the ductus arteriosus open. For example, this may be done if a child is born with another heart defect that decreases blood flow to the lungs or the rest of the body. + +Keeping the PDA open helps maintain blood flow and oxygen levels until doctors can do surgery to correct the other heart defect. + +Outlook + +PDA is a fairly common congenital heart defect in the United States. Although the condition can affect full-term infants, it's more common in premature infants. + +On average, PDA occurs in about 8 out of every 1,000 premature babies, compared with 2out of every 1,000 full-term babies. Premature babies also are more vulnerable to the effects of PDA. + +PDA is twice as common in girls as it is in boys. + +Doctors treat the condition with medicines, catheter-based procedures, and surgery. Most children who have PDAs live healthy, normal lives after treatment.",NHLBI,Patent Ductus Arteriosus +What causes Patent Ductus Arteriosus ?,"If your child has patent ductus arteriosus (PDA), you may think you did something wrong during your pregnancy to cause the problem. However, the cause of patent ductus arteriosus isn't known. + +Genetics may play a role in causing the condition. A defect in one or more genes might prevent the ductus arteriosus from closing after birth.",NHLBI,Patent Ductus Arteriosus +Who is at risk for Patent Ductus Arteriosus? ?,"Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States. + +The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births). However, PDA also occurs in full-term infants (on average, occurring in about 2 of every 1,000 births). + +PDA also is more common in: + +Infants who have genetic conditions such as Down syndrome + +Infants whose mothers had German measles (rubella) during pregnancy + +PDA is twice as common in girls as it is in boys.",NHLBI,Patent Ductus Arteriosus +What are the symptoms of Patent Ductus Arteriosus ?,"A heart murmur may be the only sign that a baby has patent ductus arteriosus (PDA). A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. + +Some infants may develop signs or symptoms of volume overload on the heart and excess blood flow in the lungs. Signs and symptoms may include: + +Fast breathing, working hard to breathe, or shortness of breath. Premature infants may need increased oxygen or help breathing from a ventilator. + +Poor feeding and poor weight gain. + +Tiring easily. + +Sweating with exertion, such as while feeding.",NHLBI,Patent Ductus Arteriosus +How to diagnose Patent Ductus Arteriosus ?,"In full-term infants, patent ductus arteriosus (PDA) usually is first suspected when the baby's doctor hears a heart murmur during a regular checkup. + +A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. + +If a PDA is large, the infant also may develop symptoms of volume overload and increased blood flow to the lungs. If a PDA is small, it may not be diagnosed until later in childhood. + +If your child's doctor thinks your child has PDA, he or she may refer you to a pediatric cardiologist. This is a doctor who specializes in diagnosing and treating heart problems in children. + +Premature babies who have PDA may not have the same signs as full-term babies, such as heart murmurs. Doctors may suspect PDA in premature babies who develop breathing problems soon after birth. Tests can help confirm a diagnosis. + +Diagnostic Tests + +Echocardiography + +Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of your baby's heart. During echo, the sound waves bounce off your childs heart. A computer converts the sound waves into pictures of the hearts structures. + +The test allows the doctor to clearly see any problems with the way the heart is formed or the way it's working. Echo is the most important test available to your baby's cardiologist to both diagnose a heart problem and follow the problem over time. + +In babies who have PDA, echo shows how big the PDA is and how well the heart is responding to it. When medical treatments are used to try to close a PDA, echo is used to see how well the treatments are working. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. For babies who have PDA, an EKG can show whether the heart is enlarged. The test also can show other subtle changes that can suggest the presence of a PDA.",NHLBI,Patent Ductus Arteriosus +What are the treatments for Patent Ductus Arteriosus ?,"Patent ductus arteriosus (PDA) is treated with medicines, catheter-based procedures, and surgery. The goal of treatment is to close the PDA. Closure will help prevent complications and reverse the effects of increased blood volume. + +Small PDAs often close without treatment. For full-term infants, treatment is needed if the PDA is large or causing health problems. For premature infants, treatment is needed if the PDA is causing breathing problems or heart problems. + +Talk with your child's doctor about treatment options and how your family prefers to handle treatment decisions. + +Medicines + +Your child's doctor may prescribe medicines to help close your child's PDA. + +Indomethacin (in-doh-METH-ah-sin) is a medicine that helps close PDAs in premature infants. This medicine triggers the PDA to constrict or tighten, which closes the opening. Indomethacin usually doesn't work in full-term infants. + +Ibuprofen also is used to close PDAs in premature infants. This medicine is similar to indomethacin. + +Catheter-Based Procedures + +Catheters are thin, flexible tubes that doctors use as part of a procedure called cardiac catheterization (KATH-eh-ter-ih-ZA-shun). Catheter-based procedures often are used to close PDAs in infants or children who are large enough to have the procedure. + +Your child's doctor may refer to the procedure as ""transcatheter device closure."" The procedure sometimes is used for small PDAs to prevent the risk of infective endocarditis (IE). IE is an infection of the inner lining of the heart chambers and valves. + +Your child will be given medicine to help him or her relax or sleep during the procedure. The doctor will insert a catheter in a large blood vessel in the groin (upper thigh). He or she will then guide the catheter to your child's heart. + +A small metal coil or other blocking device is passed through the catheter and placed in the PDA. This device blocks blood flow through the vessel. + +Catheter-based procedures don't require the child's chest to be opened. They also allow the child to recover quickly. + +These procedures often are done on an outpatient basis. You'll most likely be able to take your child home the same day the procedure is done. + +Complications from catheter-based procedures are rare and short term. They can include bleeding, infection, and movement of the blocking device from where it was placed. + +Surgery + +Surgery to correct a PDA may be done if: + +A premature or full-term infant has health problems due to a PDA and is too small to have a catheter-based procedure + +A catheter-based procedure doesn't successfully close the PDA + +Surgery is planned for treatment of related congenital heart defects + +Often, surgery isn't done until after 6 months of age in infants who don't have health problems from their PDAs. Doctors sometimes do surgery on small PDAs to prevent the risk of IE. + +For the surgery, your child will be given medicine so that he or she will sleep and not feel any pain. The surgeon will make a small incision (cut) between your child's ribs to reach the PDA. He or she will close the PDA using stitches or clips. + +Complications from surgery are rare and usually short term. They can include hoarseness, a paralyzed diaphragm (the muscle below the lungs), infection, bleeding, or fluid buildup around the lungs. + +After Surgery + +After surgery, your child will spend a few days in the hospital. He or she will be given medicine to reduce pain and anxiety. Most children go home 2 days after surgery. Premature infants usually have to stay in the hospital longer because of their other health issues. + +The doctors and nurses at the hospital will teach you how to care for your child at home. They will talk to you about: + +Limits on activity for your child while he or she recovers + +Followup appointments with your child's doctors + +How to give your child medicines at home, if needed + +When your child goes home after surgery, you can expect that he or she will feel fairly comfortable. However, you child may have some short-term pain. + +Your child should begin to eat better and gain weight quickly. Within a few weeks, he or she should fully recover and be able to take part in normal activities. + +Long-term complications from surgery are rare. However, they can include narrowing of the aorta, incomplete closure of the PDA, and reopening of the PDA.",NHLBI,Patent Ductus Arteriosus +What is (are) Heart Valve Disease ?,"Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral,and aortic valves. + +These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. + +Healthy Heart Cross-Section + + + +Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. + +Overview + +How the Heart Valves Work + +At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers). + +After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria. + +As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen. + +At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles. + +For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article. + +Heart Valve Problems + +Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia. + +Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery. + +In the United States, backflow most often is due to prolapse. ""Prolapse"" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve. + +Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems. + +Atresia occurs if a heart valve lacks an opening for blood to pass through. + +Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenitalheart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects. + +Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly. + +Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time. + +Both congenital and acquired heart valve disease can cause stenosis or backflow. + +Outlook + +Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems. + +For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA). + +Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications. + +These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced. + +Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all.",NHLBI,Heart Valve Disease +What causes Heart Valve Disease ?,"Heart conditions and other disorders, age-related changes, rheumatic fever, or infections can cause acquired heart valve disease. These factors change the shape or flexibility of once-normal heart valves. + +The cause of congenital heart valve disease isnt known. It occurs before birth as the heart is forming. Congenital heart valve disease can occur alone or with other types of congenital heartdefects. + +Heart Conditions and Other Disorders + +Certain conditions can stretch and distort the heart valves. These conditions include: + +Advanced high blood pressure and heart failure, thiscan enlarge the heart or the main arteries. + +Atherosclerosis in the aorta. Atherosclerosis is a condition in which a waxy substance called plaque builds up inside the arteries. The aorta is the main artery that carries oxygen-rich blood to the body. + +Damage and scar tissue due to a heart attack or injury to the heart. + +Rheumatic Fever + +Untreated strep throat or other infections with strep bacteria that progress to rheumatic fever can cause heart valve disease. + +When the body tries to fight the strep infection, one or more heart valves may be damaged or scarred in the process. The aortic and mitral valves most often are affected. Symptoms of heart valve damage often dont appear until many years after recovery from rheumatic fever. + +Today, most people who have strep infections are treated with antibiotics before rheumatic fever occurs. If you have strep throat, take all of the antibiotics your doctor prescribes, even if you feel better before the medicine is gone. + +Heart valve disease caused by rheumatic fever mainly affects older adults who had strep infections before antibiotics were available. It also affects people from developing countries, where rheumatic fever is more common. + +Infections + +Common germs that enter the bloodstream and get carried to the heart can sometimes infect the inner surface of the heart, including the heart valves. This rare but serious infection is called infective endocarditis. + +The germs can enter the bloodstream through needles, syringes, or other medical devices and through breaks in the skin or gums. Often, the bodys defenses fight off the germs and no infection occurs. Sometimes these defenses fail, which leads to infective endocarditis. + +Infective endocarditis can develop in people who already have abnormal blood flow through a heart valve as the result of congenital or acquired heart valve disease. The abnormal blood flow causes blood clots to form on the surface of the valve. The blood clots make it easier for germs to attach to and infect the valve. + +Infective endocarditis can worsen existing heart valve disease. + +Other Conditions and Factors Linked to Heart Valve Disease + +Many other conditions and factors are linked to heart valve disease. However, the role they play in causing heart valve disease often isnt clear. + +Autoimmune disorders. Autoimmune disorders, such as lupus, can affect the aortic and mitral valves. + +Carcinoid syndrome. Tumors in the digestive tract that spread to the liver or lymph nodes can affect the tricuspid and pulmonary valves. + +Diet medicines. The use of fenfluramine and phentermine (fen-phen) sometimes has been linked to heart valve problems. These problems typically stabilize or improve after the medicine is stopped. + +Marfan syndrome. Congenital disorders, such as Marfan syndrome and other connective tissue disorders, can affect the heart valves. + +Metabolic disorders. Relatively uncommon diseases (such as Fabry disease) and other metabolic disorders (such as high blood cholesterol) can affect the heart valves. + +Radiation therapy. Radiation therapy to the chest area can cause heart valve disease. This therapy is used to treat cancer. Heart valve disease due to radiation therapy may not cause symptoms until years after the therapy.",NHLBI,Heart Valve Disease +Who is at risk for Heart Valve Disease? ?,"Older age is a risk factor for heart valve disease. As you age, your heart valves thicken and become stiffer. Also, people are living longer now than in the past. As a result, heart valve disease has become an increasing problem. + +People who have a history of infective endocarditis (IE), rheumatic fever, heart attack, or heart failureor previous heart valve diseasealso are at higher risk for heart valve disease. In addition, having risk factors for IE, such as intravenous drug use, increases the risk of heart valve disease. + +You're also at higher risk for heart valve disease if you have risk factors for coronary heart disease. These risk factors include high blood cholesterol, high blood pressure, smoking, insulin resistance, diabetes, overweight or obesity, lack of physical activity, and a family history of early heart disease. + +Some people are born with an aortic valve that has two flaps instead of three. Sometimes an aortic valve may have three flaps, but two flaps are fused together and act as one flap. This is called a bicuspid or bicommissural aortic valve. People who have this congenital condition are more likely to develop aortic heart valve disease.",NHLBI,Heart Valve Disease +What are the symptoms of Heart Valve Disease ?,"Major Signs and Symptoms + +The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. + +However, many people have heart murmurs without having heart valve disease or any other heart problems. Others may have heart murmurs due to heart valve disease, but have no other signs or symptoms. + +Heart valve disease often worsens over time, so signs and symptoms may occur years after a heart murmur is first heard. Many people who have heart valve disease don't have any symptoms until they're middle-aged or older. + +Other common signs and symptoms of heart valve disease relate to heart failure, which heart valve disease can cause. These signs and symptoms include: + +Unusual fatigue (tiredness) + +Shortness of breath, especially when you exert yourself or when you're lying down + +Swelling in your ankles, feet, legs, abdomen, and veins in the neck + +Other Signs and Symptoms + +Heart valve disease can cause chest pain that may happen only when you exert yourself. You also may notice a fluttering, racing, or irregular heartbeat. Some types of heart valve disease, such as aortic or mitral valve stenosis, can cause dizziness or fainting.",NHLBI,Heart Valve Disease +How to diagnose Heart Valve Disease ?,"Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, a cardiologist usually will diagnose the condition. A cardiologist is a doctor who specializes in diagnosing and treating heart problems. + +To diagnose heart valve disease, your doctor will ask about your signs and symptoms. He or she also will do a physical exam and look at the results from tests and procedures. + +Physical Exam + +Your doctor will listen to your heart with a stethoscope. He or she will want to find out whether you have a heart murmur that's likely caused by a heart valve problem. + +Your doctor also will listen to your lungs as you breathe to check for fluid buildup. He or she will check for swollen ankles and other signs that your body is retaining water. + +Tests and Procedures + +Echocardiography (echo) is the main test for diagnosing heart valve disease. But an EKG (electrocardiogram) or chest x ray commonly is used to reveal certain signs of the condition. If these signs are present, echo usually is done to confirm the diagnosis. + +Your doctor also may recommend other tests and procedures if you're diagnosed with heart valve disease. For example, you may have cardiac catheterization, (KATH-eh-ter-ih-ZA-shun), stress testing, or cardiac MRI (magnetic resonance imaging). These tests and procedures help your doctor assess how severe your condition is so he or she can plan your treatment. + +EKG + +This simple test detects and records the heart's electrical activity. An EKG can detect an irregular heartbeat and signs of a previous heart attack. It also can show whether your heart chambers are enlarged. + +An EKG usually is done in a doctor's office. + +Chest X Ray + +This test can show whether certain sections of your heart are enlarged, whether you have fluid in your lungs, or whether calcium deposits are present in your heart. + +A chest x ray helps your doctor learn which type of valve defect you have, how severe it is, and whether you have any other heart problems. + +Echocardiography + +Echo uses sound waves to create a moving picture of your heart as it beats. A device called a transducer is placed on the surface of your chest. + +The transducer sends sound waves through your chest wall to your heart. Echoes from the sound waves are converted into pictures of your heart on a computer screen. + +Echo can show: + +The size and shape of your heart valves and chambers + +How well your heart is pumping blood + +Whether a valve is narrow or has backflow + +Your doctor may recommend transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, to get a better image of your heart. + +During TEE, the transducer is attached to the end of a flexible tube. The tube is guided down your throat and into your esophagus (the passage leading from your mouth to your stomach). From there, your doctor can get detailed pictures of your heart. + +You'll likely be given medicine to help you relax during this procedure. + +Cardiac Catheterization + +For this procedure, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. Your doctor uses x-ray images to guide the catheter. + +Through the catheter, your doctor does diagnostic tests and imaging that show whether backflow is occurring through a valve and how fully the valve opens. You'll be given medicine to help you relax, but you will be awake during the procedure. + +Your doctor may recommend cardiac catheterization if your signs and symptoms of heart valve disease aren't in line with your echo results. + +The procedure also can help your doctor assess whether your symptoms are due to specific valve problems or coronary heart disease. All of this information helps your doctor decide the best way to treat you. + +Stress Test + +During stress testing, you exercise to make your heart work hard and beat fast while heart tests and imaging are done. If you can't exercise, you may be given medicine to raise your heart rate. + +A stress test can show whether you have signs and symptoms of heart valve disease when your heart is working hard. It can help your doctor assess the severity of your heart valve disease. + +Cardiac MRI + +Cardiac MRI uses a powerful magnet and radio waves to make detailed images of your heart. A cardiac MRI image can confirm information about valve defects or provide more detailed information. + +This information can help your doctor plan your treatment. An MRI also may be done before heart valve surgery to help your surgeon plan for the surgery.",NHLBI,Heart Valve Disease +What are the treatments for Heart Valve Disease ?,"Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines often can treat symptoms successfully and delay problems for many years. Eventually, though, you may need surgery to repair or replace a faulty heart valve. + +The goals of treating heart valve disease might include: + +Medicines + +Repairing or replacing faulty valves + +Lifestyle changes to treat other related heart conditions + +Medicines + +In addition to heart-healthy lifestyle changes, your doctor may prescribe medicines to: + +Lower high blood pressure or high blood cholesterol. + +Prevent arrhythmias (irregular heartbeats). + +Thin the blood and prevent clots (if you have a man-made replacement valve). Doctors also prescribe these medicines for mitral stenosis or other valve defects that raise the risk of blood clots. + +Treat coronary heart disease. Medicines for coronary heart disease can reduce your hearts workload and relieve symptoms. + +Treatheart failure. Heart failure medicines widen blood vessels and rid the body of excess fluid. + +Repairing or Replacing Heart Valves + +Your doctor may recommend repairing or replacing your heart valve(s), even if your heart valve disease isnt causing symptoms. Repairing or replacing a valve can prevent lasting damage to your heart and sudden death. + +The decision to repair or replace heart valves depends on many factors, including: + +The severity of your valve disease + +Whether you need heart surgery for other conditions, such as bypass surgery to treat coronary heart disease. Bypass surgery and valve surgery can be performed at the sametime. + +Your age and general health + +When possible, heart valve repair is preferred over heart valve replacement. Valve repair preserves the strength and function of the heart muscle. People who have valve repair also have a lower risk of infective endocarditis after the surgery, and they dont need to take blood-thinning medicines for the rest of their lives. + +However, heart valve repair surgery is harder to do than valve replacement. Also, not all valves can be repaired. Mitral valves often can be repaired. Aortic and pulmonary valves often have to be replaced. + +Repairing Heart Valves + +Heart surgeons can repair heart valves by: + +Adding tissue to patch holes or tears or to increase the support at the base of the valve + +Removing or reshaping tissue so the valve can close tighter + +Separating fused valve flaps + +Sometimes cardiologists repair heart valves using cardiac catheterization. Although catheter procedures are less invasive than surgery, they may not work as well for some patients. Work with your doctor to decide whether repair is appropriate. If so, your doctor can advise you on the best procedure. + +Heart valves that cannot open fully (stenosis) can be repaired with surgery or with a less invasive catheter procedure called balloon valvuloplasty. This procedure also is called balloonvalvotomy. + +During the procedure, a catheter (thin tube) with a balloon at its tip is threaded through a blood vessel to the faulty valve in your heart. The balloon is inflated to help widen the opening of the valve. Your doctor then deflates the balloon and removes both it and the tube. Youre awake during the procedure, which usually requires an overnight stay in a hospital. + +Balloon valvuloplasty relieves many symptoms of heart valve disease, but may not cure it. The condition can worsen over time. You still may need medicines to treat symptoms or surgery to repair or replace the faulty valve. Balloon valvuloplasty has a shorter recovery time than surgery. The procedure may work as well as surgery for some patients who have mitral valve stenosis. For these people, balloon valvuloplasty often is preferred over surgical repair or replacement. + +Balloon valvuloplasty doesnt work as well as surgery for adults who have aortic valve stenosis. Doctors often use balloon valvuloplasty to repair valve stenosis in infants and children. + +Replacing Heart Valves + +Sometimes heart valves cant be repaired and must be replaced. This surgery involves removing the faulty valve and replacing it with a man-made or biological valve. + +Biological valves are made from pig, cow, or human heart tissue and may have man-made parts as well. These valves are specially treated, so you wont need medicines to stop your body from rejecting the valve. + +Man-made valves last longer than biological valves and usually dont have to be replaced. Biological valves usually have to be replaced after about 10 years, although newer ones may last 15years or longer. Unlike biological valves, however, man-made valves require you to take blood-thinning medicines for the rest of your life. These medicines prevent blood clots from forming on the valve. Blood clots can cause a heart attack or stroke. Man-made valves also raise your risk of infective endocarditis. + +You and your doctor will decide together whether you should have a man-made or biological replacement valve. + +If youre a woman of childbearing age or if youre athletic, you may prefer a biological valve so you dont have to take blood-thinning medicines. If youre elderly, you also may prefer a biological valve, as it will likely last for the rest of your life. + +Ross Procedure + +Doctors also can treat faulty aortic valves with the Ross procedure. During this surgery, your doctor removes your faulty aortic valve and replaces it with your pulmonary valve. Your pulmonary valve is then replaced with a pulmonary valve from a deceased humandonor. + +This is more involved surgery than typical valve replacement, and it has a greater risk of complications. The Ross procedure may be especially useful for children because the surgically replaced valves continue to grow with the child. Also, lifelong treatment with blood-thinning medicines isnt required. But in some patients, one or both valves fail to work well within a few years of the surgery. Researchers continue to study the use of this procedure. + +Other Approaches for Repairing and Replacing Heart Valves + +Some forms of heart valve repair and replacement surgery are less invasive than traditional surgery. These procedures use smaller incisions (cuts) to reach the heart valves. Hospital stays for these newer types of surgery usually are 3 to 5 days, compared with a 5-day stay for traditional heart valve surgery. + +New surgeries tend to cause less pain and have a lower risk of infection. Recovery time also tends to be shorter2to 4weeks versus 6to 8weeks for traditional surgery. + +Transcatheter Valve Therapy + +Interventional cardiologists perform procedures that involve threading clips or other devices to repair faulty heart valves using a catheter (tube) inserted through a large blood vessel. The clips or devices are used to reshape the valves and stop the backflow of blood. People who receive these clips recover more easily than people who have surgery. However, the clips may not treat backflow as well as surgery. + +Doctors also may use a catheter to replace faulty aortic valves. This procedure is called transcatheter aortic valve replacement (TAVR). For this procedure, the catheter usually is inserted into an artery in the groin (upper thigh) and threaded to the heart. A deflated balloon with a folded replacement valve around it is at the end of the catheter. + +Once the replacement valve is placed properly, the balloon is used to expand the new valve so it fits securely within the old valve. The balloon is then deflated, and the balloon and catheter are removed. + +A replacement valve also can be inserted in an existing replacement valve that is failing. This is called a valve-in-valve procedure. + +Lifestyle Changes to Treat Other Related Heart + +To help treat heart conditions related to heart valve disease, your doctor may advise you to make heart-healthy lifestyle changes, such as: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +AvocadosNot all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are: + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weightgain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for heart valve disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25.0 and 29.9 is considered overweight. + +Of 30.0 or higher is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Regular physical activity can lower many heart valve disease risk factors. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans + +Quitting Smoking + +If you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk for atherosclerosis and other health problems. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, visit the Smoking and Your Heart Health Topic.",NHLBI,Heart Valve Disease +How to prevent Heart Valve Disease ?,"To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. Prompt treatment of strep infections can prevent rheumatic fever, which damages the heartvalves. + +Its possible that exercise, a heart-healthy diet, and medicines that lower cholesterol might prevent aortic stenosis (thickening and stiffening of the aortic valve). Researchers continue to study this possibility. + +Heart-healthy eating, physical activity, other heart-healthy lifestyle changes, and medicines aimed at preventing a heart attack, high blood pressure, or heart failure also may help prevent heart valve disease.",NHLBI,Heart Valve Disease +What is (are) Hypotension ?,"Hypotension (HI-po-TEN-shun) is abnormally low blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood. + +Blood pressure is measured as systolic (sis-TOL-ik) and diastolic (di-a-STOL-ik) pressures. ""Systolic"" refers to blood pressure when the heart beats while pumping blood. ""Diastolic"" refers to blood pressure when the heart is at rest between beats. + +You most often will see blood pressure numbers written with the systolic number above or before the diastolic number, such as 120/80 mmHg. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Normal blood pressure in adults is lower than 120/80 mmHg. Hypotension is blood pressure that's lower than 90/60 mmHg. + +Overview + +Blood pressure doesn't stay the same all the time. It lowers as you sleep and rises when you wake up. Blood pressure also rises when you're excited, nervous, or active. + +Your body is very sensitive to changes in blood pressure. For example, if you stand up quickly, your blood pressure may drop for a short time. Your body adjusts your blood pressure to make sure enough blood and oxygen are flowing to your brain, kidneys, and other vital organs. + +Most forms of hypotension happen because your body can't bring blood pressure back to normal or can't do it fast enough. + +Some people have low blood pressure all the time. They have no signs or symptoms, and their low blood pressure is normal for them. + +In other people, certain conditions or factors cause abnormally low blood pressure. As a result, less blood and oxygen flow to the body's organs. + +For the most part, hypotension is a medical concern only if it causes signs or symptoms or is linked to a serious condition, such as heart disease. Signs and symptoms of hypotension may include dizziness, fainting, cold and sweaty skin, fatigue (tiredness), blurred vision, or nausea (feeling sick to your stomach). + +In extreme cases, hypotension can lead to shock. + +Outlook + +In a healthy person, low blood pressure without signs or symptoms usually isn't a problem and needs no treatment. If it causes signs or symptoms, your doctor will try to find and treat the condition that's causing it. + +Hypotension can be dangerous. It can make you fall because of dizziness or fainting. Shock, a severe form of hypotension, is a condition that's often fatal if not treated right away. With prompt and proper treatment, shock can be successfully treated.",NHLBI,Hypotension +What causes Hypotension ?,"Conditions or factors that disrupt the body's ability to control blood pressure cause hypotension. The different types of hypotension have different causes. + +Orthostatic Hypotension + +Orthostatic hypotension has many causes. Sometimes two or more factors combine to cause this type of low blood pressure. + +Dehydration (de-hi-DRA-shun) is the most common cause of orthostatic hypotension. Dehydration occurs if the body loses more water than it takes in. + +You may become dehydrated if you don't drink enough fluids or if you sweat a lot during physical activity. Fever, vomiting, and severe diarrhea also can cause dehydration. + +Orthostatic hypotension also may occur during pregnancy, but it usually goes away after birth. + +Because an older body doesn't manage changes in blood pressure as well as a younger body, getting older also can lead to this type of hypotension. + +Postprandial hypotension (a type of orthostatic hypotension) mostly affects older adults. Postprandial hypotension is a sudden drop in blood pressure after a meal. + +Certain medical conditions can raise your risk of orthostatic hypotension, including: + +Heart conditions, such as heart attack, heart valve disease, bradycardia (a very low heart rate), and heart failure. These conditions prevent the heart from pumping enough blood to the body. + +Anemia. + +Severe infections. + +Endocrine conditions, such as thyroid disorders, Addison's disease, low blood sugar, and diabetes. + +Central nervous system disorders, such as Parkinson's disease. + +Pulmonary embolism. + +Some medicines for high blood pressure and heart disease can raise your risk of orthostatic hypotension. These medicines include: + +Diuretics, also called ""water pills"" + +Calcium channel blockers + +Angiotensin-converting enzyme (ACE) inhibitors + +Angiotensin II receptor blockers + +Nitrates + +Beta blockers + +Medicines for conditions such as anxiety, depression, erectile dysfunction, and central nervous system disorders also can increase your risk of orthostatic hypotension. + +Other substances, when taken with high blood pressure medicines, also can lead to orthostatic hypotension. These substances include alcohol, barbiturates, and some prescription and over-the-counter medicines. + +Finally, other factors or conditions that can trigger orthostatic hypotension include being out in the heat or being immobile for a long time. ""Immobile"" means you can't move around very much. + +Neurally Mediated Hypotension + +Neurally mediated hypotension (NMH) occurs when the brain and heart don't communicate with each other properly. + +For example, when you stand for a long time, blood begins to pool in your legs. This causes your blood pressure to drop. In NMH, the body mistakenly tells the brain that blood pressure is high. In response, the brain slows the heart rate. This makes blood pressure drop even more, causing dizziness and other symptoms. + +Severe Hypotension Linked to Shock + +Many factors and conditions can cause severe hypotension linked to shock. Some of these factors also can cause orthostatic hypotension. In shock, though, blood pressure drops very low and doesn't return to normal on its own. + +Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911. + +Some severe infections can cause shock. This is known as septic shock. It can occur if bacteria enter the bloodstream. The bacteria release a toxin (poison) that leads to a dangerous drop in blood pressure. + +A severe loss of blood or fluids from the body also can cause shock. This is known as hypovolemic (HI-po-vo-LE-mik) shock. Hypovolemic shock can happen as a result of: + +Major external bleeding (for example, from a severe cut or injury) + +Major internal bleeding (for example, from a ruptured blood vessel or injury that causes bleeding inside the body) + +Major loss of body fluids from severe burns + +Severe swelling of the pancreas (an organ that produces enzymes and hormones, such as insulin) + +Severe diarrhea + +Severe kidney disease + +Overuse of diuretics + +A major decrease in the heart's ability to pump blood also can cause shock. This is known as cardiogenic (KAR-de-o-JEN-ik) shock. + +A heart attack, pulmonary embolism, or an ongoing arrhythmia (ah-RITH-me-ah) that disrupts heart function can cause this type of shock. + +A sudden and extreme relaxation of the arteries linked to a drop in blood pressure also can cause shock. This is known as vasodilatory (VA-so-DI-la-tory) shock. It can occur due to: + +A severe head injury + +A reaction to certain medicines + +Liver failure + +Poisoning + +A severe allergic reaction (called anaphylactic (AN-a-fi-LAK-tik) shock)",NHLBI,Hypotension +Who is at risk for Hypotension? ?,"Hypotension can affect people of all ages. However, people in certain age groups are more likely to have certain types of hypotension. + +Older adults are more likely to have orthostatic and postprandial hypotension. Children and young adults are more likely to have neurally mediated hypotension. + +People who take certain medicinessuch as diuretics (""water pills"") or other high blood pressure medicinesare at increased risk for hypotension. Certain conditions also increase the risk for hypotension. Examples include central nervous system disorders (such as Parkinson's disease) and some heart conditions. + +Other risk factors for hypotension include being immobile (not being able to move around very much) for long periods, being out in the heat for a long time, and pregnancy. Hypotension during pregnancy is normal and usually goes away after birth.",NHLBI,Hypotension +What are the symptoms of Hypotension ?,"Orthostatic Hypotension and Neurally Mediated Hypotension + +The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include: + +Dizziness or light-headedness + +Blurry vision + +Confusion + +Weakness + +Fatigue (feeling tired) + +Nausea (feeling sick to your stomach) + +Orthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down. + +You may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal. + +The signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down. + +Severe Hypotension Linked to Shock + +In shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion. + +In the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion. + +Over time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away. + +Other signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock: + +The skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin. + +The pulse becomes weak and rapid. + +The person begins to breathe very quickly. + +When extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy. + +Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911.",NHLBI,Hypotension +How to diagnose Hypotension ?,"Hypotension is diagnosed based on your medical history, a physical exam, and test results. Your doctor will want to know: + +The type of hypotension you have and how severe it is + +Whether an underlying condition is causing the hypotension + +Specialists Involved + +A primary care doctor or specialist may diagnose and treat hypotension. The type of specialist most commonly involved is a cardiologist (heart specialist). + +Other specialists also may be involved, such as surgeons, nephrologists (kidney specialists), or neurologists (brain and nerve specialists). + +Diagnostic Tests + +Shock is a life-threatening condition that requires emergency treatment. For other types of hypotension, your doctor may recommend tests to find out how your blood pressure responds in certain situations. + +The test results will help your doctor understand why you're fainting or having other symptoms. + +Blood Tests + +During a blood test, a small amount of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure is quick and easy, although it may cause some short-term discomfort. + +Blood tests can show whether anemia or low blood sugar is causing your hypotension. + +EKG (Electrocardiogram) + +An EKG is a simple test that detects and records your heart's electrical activity. It shows how fast your heart is beating and whether its rhythm is steady or irregular. An EKG also shows the strength and timing of electrical signals as they pass through each part of your heart. + +Holter and Event Monitors + +Holter and event monitors are medical devices that record your heart's electrical activity. These monitors are similar to an EKG. However, a standard EKG only records your heartbeat for a few seconds. It won't detect heart rhythm problems that don't occur during the test. + +Holter and event monitors are small, portable devices. You can wear one while you do your normal daily activities. This allows the monitor to record your heart for longer periods than a standard EKG. + +Echocardiography + +Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. The picture shows how well your heart is working and its size and shape. + +There are several types of echo, including stress echo. This test is done as part of a stress test (see below). Stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (also called coronary artery disease). + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast while heart tests are done. + +These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. + +Valsalva Maneuver + +This is a simple test for the part of your nervous system that controls functions such as your heartbeat and the narrowing and widening of your blood vessels. If something goes wrong with this part of the nervous system, blood pressure problems may occur. + +During this test, you take a deep breath and then force the air out through your lips. You will do this several times. Your heart rate and blood pressure will be checked during the test. + +Tilt Table Test + +This test is used if you have fainting spells for no known reason. For the test, you lie on a table that moves from a lying down to an upright position. Your doctor checks your reaction to the change in position. + +Doctors use a tilt table test to diagnose orthostatic hypotension and neurally mediated hypotension (NMH). People who have NMH usually faint during this test. The test can help your doctor find any underlying brain or nerve condition.",NHLBI,Hypotension +What are the treatments for Hypotension ?,"Treatment depends on the type of hypotension you have and the severity of your signs and symptoms. The goal of treatment is to bring blood pressure back to normal to relieve signs and symptoms. Another goal is to manage any underlying condition causing the hypotension. + +Your response to treatment depends on your age, overall health, and strength. It also depends on how easily you can stop, start, or change medicines. + +In a healthy person, low blood pressure without signs or symptoms usually isn't a problem and needs no treatment. + +If you have signs or symptoms of hypotension, you should sit or lie down right away. Put your feet above the level of your heart. If your signs or symptoms don't go away quickly, you should seek medical care. + +Orthostatic Hypotension + +Many treatments are available for orthostatic hypotension. If you have this condition, your doctor may advise making lifestyle changes, such as: + +Drinking plenty of fluids, such as water or sports drinks that contain nutrients like sodium and potassium. + +Drinking little or no alcohol. + +Standing up slowly. + +Not crossing your legs while sitting. + +Slowly increasing the amount of time you sit up if you've been immobile for a long time because of a medical condition. The term ""immobile"" refers to not being able to move around very much. + +Eating small, low-carbohydrate meals if you have postprandial hypotension (a form of orthostatic hypotension). + +Talk with your doctor about using compression stockings. These stockings apply pressure to your lower legs. The pressure helps move blood throughout your body. + +If medicine is causing your low blood pressure, your doctor may change the medicine or adjust the dose you take. + +Several medicines are used to treat orthostatic hypotension. These medicines, which raise blood pressure, include fludrocortisone and midodrine. + +Neurally Mediated Hypotension + +If you have neurally mediated hypotension (NMH), you may need to make lifestyle changes. These may include: + +Avoiding situations that trigger symptoms, such as standing for long periods. Unpleasant, upsetting, or scary situations also can trigger symptoms. + +Drinking plenty of fluids, such as water or sports drinks that contain nutrients like sodium and potassium. + +Increasing your salt intake (as your doctor advises). + +Learning to recognize symptoms that occur before fainting and taking action to raise your blood pressure. For example, sitting down and putting your head between your knees or lying down can help raise blood pressure. + +If medicine is causing your hypotension, your doctor may change the medicine or adjust the dose you take. He or she also may prescribe medicine to treat NMH. + +Children who have NHM often outgrow it. + +Severe Hypotension Linked to Shock + +Shock is a life-threatening emergency. People who have shock need prompt treatment from medical personnel. If a person has signs or symptoms of shock, call 911 right away. + +The goals of treating shock are to: + +Restore blood flow to the organs as quickly as possible to prevent organ damage + +Find and reverse the cause of shock + +Blood or special fluids are put into the bloodstream to restore blood flow to the organs. Medicines can help raise blood pressure or make the heartbeat stronger. Depending on the cause of the shock, other treatmentssuch as antibiotics or surgerymay be needed.",NHLBI,Hypotension +What is (are) Heart Block ?,"Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. (""Rate"" refers to the number of times your heart beats per minute. ""Rhythm"" refers to the pattern of regular or irregular pulses produced as the heart beats.) + +With each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood. + +Heart block occurs if the electrical signal is slowed or disrupted as it moves through the heart. + +Overview + +Heart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat. + +Some people are born with heart block, while others develop it during their lifetimes. If you're born with the condition, it's called congenital (kon-JEN-ih-tal) heart block. If the condition develops after birth, it's called acquired heart block. + +Doctors might detect congenital heart block before or after a baby is born. Certain diseases that may occur during pregnancy can cause heart block in a baby. Some congenital heart defects also can cause heart block. Congenital heart defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects. + +Acquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage. + +The three types of heart block are first degree, second degree, and third degree. First degree is the least severe, and third degree is the most severe. This is true for both congenital and acquired heart block. + +Doctors use a test called an EKG (electrocardiogram) to help diagnose heart block. This test detects and records the heart's electrical activity. It maps the data on a graph for the doctor to review. + +Outlook + +The symptoms and severity of heart block depend on which type you have. First-degree heart block may not cause any severe symptoms. + +Second-degree heart block may result in the heart skipping a beat or beats. This type of heart block also can make you feel dizzy or faint. + +Third-degree heart block limits the heart's ability to pump blood to the rest of the body. This type of heart block may cause fatigue (tiredness), dizziness, and fainting. Third-degree heart block requires prompt treatment because it can be fatal. + +A medical device called a pacemaker is used to treat third-degree heart block and some cases of second-degree heart block. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers typically are not used to treat first-degree heart block. + +All types of heart block may increase your risk for other arrhythmias, such as atrial fibrillation (A-tre-al fih-brih-LA-shun). Talk with your doctor to learn more about the signs and symptoms of arrhythmias.",NHLBI,Heart Block +What causes Heart Block ?,"Heart block has many causes. Some people are born with the disorder (congenital), while others develop it during their lifetimes (acquired). + +Congenital Heart Block + +One form of congenital heart block occurs in babies whose mothers have autoimmune diseases, such as lupus. People who have these diseases make proteins called antibodies that attack and damage the body's tissues or cells. + +In pregnant women, antibodies can cross the placenta. (The placenta is the organ that attaches the umbilical cord to the mother's womb.) These proteins can damage the baby's heart and lead to congenital heart block. + +Congenital heart defects also may cause congenital heart block. These defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects. + +Acquired Heart Block + +Many factors can cause acquired heart block. Examples include: + +Damage to the heart from a heart attack. This is the most common cause of acquired heart block. + +Coronary heart disease, also called coronary artery disease. + +Myocarditis (MI-o-kar-DI-tis), or inflammation of the heart muscle. + +Heart failure. + +Rheumatic (roo-MAT-ik) fever. + +Cardiomyopathy (KAR-de-o-mi-OP-a-the), or heart muscle diseases. + +Other diseases may increase the risk of heart block. Examples include sarcoidosis (sar-koy-DOE-sis) and the degenerative muscle disorders Lev's disease and Lenegre's disease. + +Certain types of surgery also may damage the heart's electrical system and lead to heart block. + +Exposure to toxic substances and taking certain medicinesincluding digitalis, beta blockers, and calcium channel blockersalso may cause heart block. Doctors closely watch people who are taking these medicines for signs of problems. + +Some types of heart block have been linked to genetic mutations (changes in the genes). + +An overly active vagus nerve also can cause heart block. You have one vagus nerve on each side of your body. These nerves run from your brain stem all the way to your abdomen. Activity in the vagus nerve slows the heart rate. + +In some cases, acquired heart block may go away if the factor causing it is treated or resolved. For example, heart block that occurs after a heart attack or surgery may go away during recovery. + +Also, if a medicine is causing heart block, the disorder may go away if the medicine is stopped or the dosage is lowered. Always talk with your doctor before you change the way you take your medicines.",NHLBI,Heart Block +Who is at risk for Heart Block? ?,"The risk factors for congenital and acquired heart block are different. + +Congenital Heart Block + +If a pregnant woman has an autoimmune disease, such as lupus, her fetus is at risk for heart block. + +Autoimmune diseases can cause the body to make proteins called antibodies that can cross the placenta. (The placenta is the organ that attaches the umbilical cord to the mother's womb.) These antibodies may damage the baby's heart and lead to congenital heart block. + +Congenital heart defects also can cause heart block. These defects are problems with the heart's structure that are present at birth. Most of the time, doctors don't know what causes congenital heart defects. + +Heredity may play a role in certain heart defects. For example, a parent who has a congenital heart defect might be more likely than other people to have a child with the condition. + +Acquired Heart Block + +Acquired heart block can occur in people of any age. However, most types of the condition are more common in older people. This is because many of the risk factors are more common in older people. + +People who have a history of heart disease or heart attacks are at increased risk for heart block. Examples of heart disease that can lead to heart block include heart failure, coronary heart disease, and cardiomyopathy (heart muscle diseases). + +Other diseases also may raise the risk of heart block, such as sarcoidosis and the degenerative muscle disorders Lev's disease and Lenegre's disease. + +Exposure to toxic substances or taking certain medicines, such as digitalis, also can raise your risk for heart block. + +Well-trained athletes and young people are at higher risk for first-degree heart block caused by an overly active vagus nerve. You have one vagus nerve on each side of your body. These nerves run from your brain stem all the way to your abdomen. Activity in the vagus nerve slows the heart rate.",NHLBI,Heart Block +What are the symptoms of Heart Block ?,"Signs and symptoms depend on the type of heart block you have. First-degree heart block may not cause any symptoms. + +Signs and symptoms of second- and third-degree heart block include: + +Fainting + +Dizziness or light-headedness + +Fatigue (tiredness) + +Shortness of breath + +Chest pain + +These symptoms may suggest other health problems as well. If these symptoms are new or severe, call 911 or have someone drive you to the hospital emergency room. If you have milder symptoms, talk with your doctor right away to find out whether you need prompt treatment.",NHLBI,Heart Block +How to diagnose Heart Block ?,"Heart block might be diagnosed as part of a routine doctor's visit or during an emergency situation. (Third-degree heart block often is an emergency.) + +Your doctor will diagnose heart block based on your family and medical histories, a physical exam, and test results. + +Specialists Involved + +Your primary care doctor might be involved in diagnosing heart block. However, if you have the condition, you might need to see a heart specialist. Heart specialists include: + +Cardiologists (doctors who diagnose and treat adults who have heart problems) + +Pediatric cardiologists (doctors who diagnose and treat babies and children who have heart problems) + +Electrophysiologists (cardiologists or pediatric cardiologists who specialize in the heart's electrical system) + +Family and Medical Histories + +Your doctor may ask whether: + +You have any signs or symptoms of heart block + +You have any health problems, such as heart disease + +Any of your family members have been diagnosed with heart block or other health problems + +You're taking any medicines, including herbal products and prescription and over-the-counter medicines + +You smoke or use alcohol or drugs + +Your doctor also may ask about other health habits, such as how physically active you are. + +Physical Exam + +During the physical exam, your doctor will listen to your heart. He or she will listen carefully for abnormal rhythms or heart murmurs (extra or unusual sounds heard during heartbeats). + +Your doctor also may: + +Check your pulse to find out how fast your heart is beating + +Check for swelling in your legs or feet, which could be a sign of an enlarged heart or heart failure + +Look for signs of other diseases that could be causing heart rate or rhythm problems (such as coronary heart disease) + +Diagnostic Tests and Procedures + +EKG (Electrocardiogram) + +Doctors usually use an EKG (electrocardiogram) to help diagnose heart block. This simple test detects and records the heart's electrical activity. + +An EKG shows how fast the heart is beating and its rhythm (steady or irregular). The test also records the strength and timing of electrical signals as they pass through the heart. + +The data are recorded on a graph. Different types of heart block have different patterns on the graph. (For more information, go to ""Types of Heart Block."") + +A standard EKG only records the heart's activity for a few seconds. To diagnose heart rhythm problems that come and go, your doctor may have you wear a portable EKG monitor. + +The most common types of portable EKGs are Holter and event monitors. Your doctor may have you use one of these monitors to diagnose first- or second-degree heart block. + +Holter and Event Monitors + +A Holter monitor records the heart's electrical signals for a full 24- or 48-hour period. You wear one while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG. + +An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. + +You may wear an event monitor for 1 to 2 months, or as long as it takes to get a recording of your heart during symptoms. + +Electrophysiology Study + +For some cases of heart block, doctors may do electrophysiology studies (EPS). During this test, a thin, flexible wire is passed through a vein in your groin (upper thigh) or arm to your heart. The wire records your heart's electrical signals. + +Other Tests + +To diagnose heart block, your doctor may recommend tests to rule out other types of arrhythmias (irregular heartbeats). For more information, go to ""How Are Arrhythmias Diagnosed?""",NHLBI,Heart Block +What are the treatments for Heart Block ?,"Treatment depends on the type of heart block you have. If you have first-degree heart block, you may not need treatment. + +If you have second-degree heart block, you may need a pacemaker. A pacemaker is a small device that's placed under the skin of your chest or abdomen. This device uses electrical pulses to prompt the heart to beat at a normal rate. + +If you have third-degree heart block, you will need a pacemaker. In an emergency, a temporary pacemaker might be used until you can get a long-term device. Most people who have third-degree heart block need pacemakers for the rest of their lives. + +Some people who have third-degree congenital heart block don't need pacemakers for many years. Others may need pacemakers at a young age or during infancy. + +If a pregnant woman has an autoimmune disease, such as lupus, her fetus is at risk for heart block. If heart block is detected in a fetus, the mother might be given medicine to reduce the fetus' risk of developing serious heart block. + +Sometimes acquired heart block goes away if the factor causing it is treated or resolved. For example, heart block that occurs after a heart attack or surgery may go away during recovery. + +Also, if a medicine is causing heart block, the condition may go away if the medicine is stopped or the dosage is lowered. (Always talk with your doctor before you change the way you take your medicines.)",NHLBI,Heart Block +What is (are) Carotid Artery Disease ?,"Carotid artery disease is a disease in which a waxy substance called plaque builds up inside the carotid arteries. You have two common carotid arteries, one on each side of your neck. They each divide into internal and external carotid arteries. + +The internal carotid arteries supply oxygen-rich blood to your brain. The external carotid arteries supply oxygen-rich blood to your face, scalp, and neck. + +Carotid Arteries + + + +Carotid artery disease is serious because it can cause a stroke, also called a brain attack. A stroke occurs if blood flow to your brain is cut off. + +If blood flow is cut off for more than a few minutes, the cells in your brain start to die. This impairs the parts of the body that the brain cells control. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death. + +Overview + +Carotid artery disease is a major cause of stroke in the United States. Over time, plaque hardens and narrows the arteries. This may limit the flow of oxygen-rich blood to your organs and other parts of your body. + +Atherosclerosis can affect any artery in the body. For example, if plaque builds up in the coronary (heart) arteries, a heart attack can occur. If plaque builds up in the carotid arteries, a stroke can occur. + +A stroke also can occur if blood clots form in the carotid arteries. This can happen if the plaque in an artery cracks or ruptures. Blood cell fragments called platelets (PLATE-lets) stick to the site of the injury and may clump together to form blood clots. Blood clots can partly or fully block a carotid artery. + +A piece of plaque or a blood clot also can break away from the wall of the carotid artery. The plaque or clot can travel through the bloodstream and get stuck in one of the brain's smaller arteries. This can block blood flow in the artery and cause a stroke. + +Carotid artery disease may not cause signs or symptoms until the carotid arteries are severely narrowed or blocked. For some people, a stroke is the first sign of the disease. + +Outlook + +Carotid artery disease is a major cause of stroke in the United States. Other conditions, such as certain heart problems and bleeding in the brain, also can cause strokes.Lifestyle changes, medicines, and medical procedures can help prevent or treat carotid artery disease and may reduce the risk of stroke. + +If you think you're having a stroke, you need urgent treatment. Call 911 right away if you have symptoms of a stroke. Do not drive yourself to the hospital.You have the best chance for full recovery if treatment to open a blocked artery is given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery.",NHLBI,Carotid Artery Disease +What causes Carotid Artery Disease ?,"Carotid artery disease seems to start when damage occurs to the inner layers of the carotid arteries. Major factors that contribute to damage include: + +Smoking + +High levels of certain fats and cholesterol in the blood + +High blood pressure + +High levels of sugar in the blood due to insulin resistance or diabetes + +When damage occurs, your body starts a healing process. The healing may cause plaque to build up where the arteries are damaged. + +The plaque in an artery can crack or rupture. If this happens, blood cell fragments called platelets will stick to the site of the injury and may clump together to form blood clots. + +The buildup of plaque or blood clots can severely narrow or block the carotid arteries. This limits the flow of oxygen-rich blood to your brain, which can cause a stroke.",NHLBI,Carotid Artery Disease +Who is at risk for Carotid Artery Disease? ?,"The major risk factors for carotid artery disease, listed below, also are the major risk factors for coronary heart disease (also called coronary artery disease) and peripheral artery disease. + +Diabetes. With this disease, the bodys blood sugar level is too high because the body doesnt make enough insulin or doesnt use its insulin properly. People who have diabetes are four times more likely to have carotid artery disease than are people who dont have diabetes. + +Family history of atherosclerosis. People who have a family history of atherosclerosis are more likely to develop carotid artery disease. + +High blood pressure (Hypertension). Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) + +Lack of physical activity.Too much sitting (sedentary lifestyle) and a lack of aerobic activity can worsen other risk factors for carotid artery disease, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity. + +Metabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raise your risk for stroke and other health problems, such as diabetes and heart disease. The five metabolic risk factors are a large waistline (abdominal obesity), a high triglyceride level (a type of fat found in the blood), a low HDL cholesterol level, high blood pressure, and high blood sugar. Metabolic syndrome is diagnosed if you have at least three of these metabolic risk factors. + +Older age. As you age, your risk for atherosclerosis increases. The process of atherosclerosis begins in youth and typically progresses over many decades before diseases develop. + +Overweight or obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height. + +Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the bodys tissues. + +Unhealthy blood cholesterol levels. This includes high LDL (bad) cholesterol) and low HDL (good) cholesterol. + +Unhealthy diet. An unhealthy diet can raise your risk for carotid artery disease. Foods that are high in saturated and trans fats, cholesterol, sodium, and sugar can worsen other risk factors for carotid artery disease. + +Having any of these risk factors does not guarantee that youll develop carotid artery disease. However, if you know that you have one or more risk factors, you can take steps to help prevent or delay the disease. + +If you have plaque buildup in your carotid arteries, you also may have plaque buildup in other arteries. People who have carotid artery disease also are at increased risk for coronary heartdisease.",NHLBI,Carotid Artery Disease +What are the symptoms of Carotid Artery Disease ?,"Carotid artery disease may not cause signs or symptoms until it severely narrows or blocks a carotid artery. Signs and symptoms may include a bruit, a transient ischemic attack(TIA), or a stroke. + +Bruit + +During a physical exam, your doctor may listen to your carotid arteries with a stethoscope. He or she may hear a whooshing sound called a bruit. This sound may suggest changed or reduced blood flow due to plaque buildup. To find out more, your doctor may recommend tests. + +Not all people who have carotid artery disease have bruits. + +Transient Ischemic Attack (Mini-Stroke) + +For some people, having a transient ischemic attack (TIA), or mini-stroke, is the first sign of carotid artery disease. During a mini-stroke, you may have some or all of the symptoms of a stroke. However, the symptoms usually go away on their own within 24 hours. + +Stroke and mini-stroke symptoms may include: + +A sudden, severe headache with no known cause + +Dizziness or loss of balance + +Inability to move one or more of your limbs + +Sudden trouble seeing in one or both eyes + +Sudden weakness or numbness in the face or limbs, often on just one side of the body + +Trouble speaking or understanding speech + +Even if the symptoms stop quickly, call 911 for emergency help. Do not drive yourself to the hospital. Its important to get checked and to get treatment started as soon as possible. + +A mini-stroke is a warning sign that youre at high risk of having a stroke. You shouldnt ignore these symptoms. Getting medical care can help find possible causes of a mini-stroke and help you manage risk factors. These actions might prevent a future stroke. + +Although a mini-stroke may warn of a stroke, it doesnt predict when a stroke will happen. A stroke may occur days, weeks, or even months after a mini-stroke. + +Stroke + +The symptoms of a stroke are the same as those of a mini-stroke, but the results are not. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death. Most people who have strokes have not previously had warning mini-strokes. + +Getting treatment for a stroke right away is very important. You have the best chance for full recovery if treatment to open a blocked artery is given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery. + +Call 911 for emergency help as soon as symptoms occur. Do not drive yourself to the hospital. Its very important to get checked and to get treatment started as soon as possible. + +Make those close to you aware of stroke symptoms and the need for urgent action. Learning the signs and symptoms of a stroke will allow you to help yourself or someone close to you lower the risk of brain damage or death due to a stroke.",NHLBI,Carotid Artery Disease +How to diagnose Carotid Artery Disease ?,"Your doctor will diagnose carotid artery disease based on your medical history, a physical exam, and test results. + +Medical History + +Your doctor will find out whether you have any of the major risk factors for carotid artery disease. He or she also will ask whether you've had any signs or symptoms of a mini-stroke or stroke. + +Physical Exam + +To check your carotid arteries, your doctor will listen to them with a stethoscope. He or she will listen for a whooshing sound called a bruit. This sound may indicate changed or reduced blood flow due to plaque buildup. To find out more, your doctor may recommend tests. + +Diagnostic Tests + +The following tests are common for diagnosing carotid artery disease. If you have symptoms of a mini-stroke or stroke, your doctor may use other tests as well. + +Carotid Ultrasound + +Carotid ultrasound (also called sonography) is the most common test for diagnosing carotid artery disease. It's a painless, harmless test that uses sound waves to create pictures of the insides of your carotid arteries. This test can show whether plaque has narrowed your carotid arteries and how narrow they are. + +A standard carotid ultrasound shows the structure of your carotid arteries. A Doppler carotid ultrasound shows how blood moves through your carotid arteries. + +Carotid Angiography + +Carotid angiography (an-jee-OG-ra-fee) is a special type of x ray. This test may be used if the ultrasound results are unclear or don't give your doctor enough information. + +For this test, your doctor will inject a substance (called contrast dye) into a vein, most often in your leg. The dye travels to your carotid arteries and highlights them on x-ray pictures. + +Magnetic Resonance Angiography + +Magnetic resonance angiography (MRA) uses a large magnet and radio waves to take pictures of your carotid arteries. Your doctor can see these pictures on a computer screen. + +For this test, your doctor may give you contrast dye to highlight your carotid arteries on the pictures. + +Computed Tomography Angiography + +Computed tomography (to-MOG-rah-fee) angiography, or CT angiography, takes x-ray pictures of the body from many angles. A computer combines the pictures into two- and three-dimensional images. + +For this test, your doctor may give you contrast dye to highlight your carotid arteries on the pictures.",NHLBI,Carotid Artery Disease +What are the treatments for Carotid Artery Disease ?,"Treatments for carotid artery disease may include healthy lifestyle changes, medicines, and medical procedures. The goals of treatment are to stop the disease from getting worse and to prevent a stroke. Your treatment will depend on your symptoms, how severe the disease is, and your age and overall health. + +Heart-Healthy Lifestyle Changes + +Your doctor may recommend heart-healthy lifestyle changes if you have carotid artery disease. Heart-healthy lifestyle changes include: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Your doctor may recommend a heart-healthy eating plan, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +If you eat: + +Try to eat no more than: + +1,200 calories a day + + 8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for carotid artery disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Managing and coping with stress. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Routine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease. + +Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + +Medicines + +If you have a stroke caused by a blood clot, you may be given a clot-dissolving, or clot-busting, medication. This type of medication must be given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery. If you think youre having a stroke, call 911 right away for emergency care. + +Medicines to prevent blood clots are the mainstay treatment for people who have carotid artery disease. They prevent platelets from clumping together and forming blood clots in your carotid arteries, which can lead to a stroke. Two common medications are: + +Aspirin + +Clopidogrel + +Sometimes lifestyle changes alone arent enough to control your cholesterol levels. For example, you also may need statin medications to control or lower your cholesterol. By lowering your blood cholesterol level, you can decrease your chance of having a heart attack or stroke. Doctors usually prescribe statins for people who have: + +Diabetes + +Heart disease or have had a stroke + +High LDL cholesterol levels + +Doctors may discuss beginning statin treatment with those who have an elevated risk for developing heart disease or having a stroke. + +You may need other medications to treat diseases and conditions that damage the carotid arteries. Your doctor also may prescribe medications to: + +Lower your blood pressure. + +Lower your blood sugar level. + +Prevent blood clots from forming, which can lead to stroke. + +Prevent or reduce inflammation. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. Your health care team will help find a treatment plan thats right for you. + +Medical Procedures + +You may need a medical procedure if you have symptoms caused by the narrowing of the carotid artery. Doctors use one of two methods to open narrowed or blocked carotid arteries: carotid endarterectomy and carotid artery angioplasty and stenting. + +Carotid Endarterectomy + +Carotid endarterectomy is mainly for people whose carotid arteries are blocked 50percent ormore. + +For the procedure, a surgeon will make a cut in your neck to reach the narrowed or blocked carotid artery. Next, he or she will make a cut in the blocked part of the artery and remove the arterys inner lining that is blocking the blood flow. + +Finally, your surgeon will close the artery with stitches and stop any bleeding. He or she will then close the cut in your neck. + +Carotid Endarterectomy + + + +Carotid Artery Angioplasty and Stenting + +Doctors use a procedure called angioplasty to widen the carotid arteries and restore blood flow to the brain. + +A thin tube with a deflated balloon on the end is threaded through a blood vessel in your neck to the narrowed or blocked carotid artery. Once in place, the balloon is inflated to push the plaque outward against the wall of the artery. + +A stent (a small mesh tube) is then put in the artery to support the inner artery wall. The stent also helps prevent the artery from becoming narrowed or blocked again. + +Carotid Artery Stenting",NHLBI,Carotid Artery Disease +How to prevent Carotid Artery Disease ?,"Taking action to control your risk factors can help prevent or delay carotid artery disease and stroke. Your risk for carotid artery disease increases with the number of risk factors you have. + +One step you can take is to adopt a heart-healthy lifestyle, which can include: + +Heart-Healthy Eating. Following heart-healthy eating is an important part of a healthy lifestyle. Dietary Approaches to Stop Hypertension (DASH)is a program that promotes heart-healthy eating. + +Maintaining a Healthy Weight. If youre overweight or obese, work with your doctor to create a reasonable plan for weight loss. Controlling your weight helps you control risk factors for carotid arterydisease. + +Physical Activity. Be as physically active as you can. Physical activity can improve your fitness level and your health. Ask your doctor what types and amounts of activity are safe for you. Read more about Physical Activity and Your Heart. + +Quit Smoking. If you smoke, quit. Talk with your doctor about programs and products that can help you quit. + +Other steps that can prevent or delay carotid artery disease include knowing your family history of carotid artery disease. If you or someone in your family has carotid artery disease, be sure to tell your doctor. + +If lifestyle changes arent enough, your doctor may prescribe medicines to control your carotid artery disease risk factors. Take all of your medicines as your doctor advises.",NHLBI,Carotid Artery Disease +What is (are) Sudden Cardiac Arrest ?,"Sudden cardiac arrest (SCA) is a condition in which the heart suddenly and unexpectedly stops beating. If this happens, blood stops flowing to the brain and other vital organs. + +SCA usually causes death if it's not treated within minutes. + +Overview + +To understand SCA, it helps to understand how the heart works. The heart has an electrical system that controls the rate and rhythm of the heartbeat. Problems with the heart's electrical system can cause irregular heartbeats called arrhythmias. + +There are many types of arrhythmias. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. Some arrhythmias can cause the heart to stop pumping blood to the bodythese arrhythmias cause SCA. + +SCA is not the same as a heart attack. A heart attack occurs if blood flow to part of the heart muscle is blocked. During a heart attack, the heart usually doesn't suddenly stop beating. SCA, however, may happen after or during recovery from a heart attack. + +People who have heart disease are at higher risk for SCA. However, SCA can happen in people who appear healthy and have no known heart disease or other risk factors for SCA. + +Outlook + +Most people who have SCA die from itoften within minutes. Rapid treatment of SCA with a defibrillator can be lifesaving. A defibrillator is a device that sends an electric shock to the heart to try to restore its normal rhythm. + +Automated external defibrillators (AEDs) can be used by bystanders to save the lives of people who are having SCA. These portable devices often are found in public places, such as shopping malls, golf courses, businesses, airports, airplanes, casinos, convention centers, hotels, sports venues, and schools.",NHLBI,Sudden Cardiac Arrest +What causes Sudden Cardiac Arrest ?,"Ventricular fibrillation (v-fib) causes most sudden cardiac arrests (SCAs). V-fib is a type of arrhythmia. + +During v-fib, the ventricles (the heart's lower chambers) don't beat normally. Instead, they quiver very rapidly and irregularly. When this happens, the heart pumps little or no blood to the body. V-fib is fatal if not treated within a few minutes. + +Other problems with the heart's electrical system also can cause SCA. For example, SCA can occur if the rate of the heart's electrical signals becomes very slow and stops. SCA also can occur if the heart muscle doesn't respond to the heart's electrical signals. + +Certain diseases and conditions can cause the electrical problems that lead to SCA. Examples include coronary heart disease (CHD), also called coronary artery disease; severe physical stress; certain inherited disorders; and structural changes in the heart. + +Several research studies are under way to try to find the exact causes of SCA and how to prevent them. + +Coronary Heart Disease + +CHD is a disease in which a waxy substance called plaque (plak) builds up in the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. + +Plaque narrows the arteries and reduces blood flow to your heart muscle. Eventually, an area of plaque can rupture (break open). This may cause a blood clot to form on the plaque's surface. + +A blood clot can partly or fully block the flow of oxygen-rich blood to the portion of heart muscle fed by the artery. This causes a heart attack. + +During a heart attack, some heart muscle cells die and are replaced with scar tissue. The scar tissue damages the heart's electrical system. As a result, electrical signals may spread abnormally throughout the heart. These changes to the heart increase the risk of dangerous arrhythmias and SCA. + +CHD seems to cause most cases of SCA in adults. Many of these adults, however, have no signs or symptoms of CHD before having SCA. + +Physical Stress + +Certain types of physical stress can cause your heart's electrical system to fail. Examples include: + +Intense physical activity. The hormone adrenaline is released during intense physical activity. This hormone can trigger SCA in people who have heart problems. + +Very low blood levels of potassium or magnesium. These minerals play an important role in your heart's electrical signaling. + +Major blood loss. + +Severe lack of oxygen. + +Inherited Disorders + +A tendency to have arrhythmias runs in some families. This tendency is inherited, which means it's passed from parents to children through the genes. Members of these families may be at higher risk for SCA. + +An example of an inherited disorder that makes you more likely to have arrhythmias is long QT syndrome (LQTS). LQTS is a disorder of the heart's electrical activity. Problems with tiny pores on the surface of heart muscle cells cause the disorder. LQTS can cause sudden, uncontrollable, dangerous heart rhythms. + +People who inherit structural heart problems also may be at higher risk for SCA. These types of problems often are the cause of SCA in children. + +Structural Changes in the Heart + +Changes in the heart's normal size or structure may affect its electrical system. Examples of such changes include an enlarged heart due to high blood pressure or advanced heart disease. Heart infections also may cause structural changes in the heart.",NHLBI,Sudden Cardiac Arrest +Who is at risk for Sudden Cardiac Arrest? ?,"The risk of sudden cardiac arrest (SCA) increases: + +With age + +If you are a man. Men are more likely than women to have SCA. + +Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA. + +Major Risk Factor + +The major risk factor for SCA is coronary heart disease. Most people who have SCA have some degree of coronary heart disease; however, many people may not know that they have coronary heart disease until SCA occurs. Usually their coronary heart disease is silentthat is, it has no signs or symptoms. Because of this, doctors and nurses have not detected it. + +Many people who have SCA also have silent, or undiagnosed, heart attacks before sudden cardiac arrest happens. These people have no clear signs of heart attack, and they dont even realize that theyve had one. Read more about coronary heart disease risk factors. + +Other Risk Factors + +Other risk factors for SCA include: + +A personal history of arrhythmias + +A personal or family history of SCA or inherited disorders that make you prone toarrhythmias + +Drug or alcohol abuse + +Heart attack + +Heart failure",NHLBI,Sudden Cardiac Arrest +What are the symptoms of Sudden Cardiac Arrest ?,"Usually, the first sign of sudden cardiac arrest (SCA) is loss of consciousness (fainting). At the same time, no heartbeat (or pulse) can be felt. + +Some people may have a racing heartbeat or feel dizzy or light-headed just before they faint. Within an hour before SCA, some people have chest pain, shortness of breath, nausea (feeling sick to the stomach), or vomiting.",NHLBI,Sudden Cardiac Arrest +How to diagnose Sudden Cardiac Arrest ?,"Sudden cardiac arrest (SCA) happens without warning and requires emergency treatment. Doctors rarely diagnose SCA with medical tests as it's happening. Instead, SCA often is diagnosed after it happens. Doctors do this by ruling out other causes of a person's sudden collapse. + +Specialists Involved + +If you're at high risk for SCA, your doctor may refer you to a cardiologist. This is a doctor who specializes in diagnosing and treating heart diseases and conditions. Your cardiologist will work with you to decide whether you need treatment to prevent SCA. + +Some cardiologists specialize in problems with the heart's electrical system. These specialists are called cardiac electrophysiologists. + +Diagnostic Tests and Procedures + +Doctors use several tests to help detect the factors that put people at risk for SCA. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +An EKG can show evidence of heart damage due to coronary heart disease (CHD). The test also can show signs of a previous or current heart attack. + +Echocardiography + +Echocardiography, or echo, is a painless test that uses sound waves to create pictures of your heart. The test shows the size and shape of your heart and how well your heart chambers and valves are working. + +Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +There are several types of echo, including stress echo. This test is done both before and after a cardiac stress test. During this test, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast. + +Stress echo shows whether you have decreased blood flow to your heart (a sign of CHD). + +MUGA Test or Cardiac MRI + +A MUGA (multiple gated acquisition) test shows how well your heart is pumping blood. For this test, a small amount of radioactive substance is injected into a vein and travels to your heart. + +The substance releases energy, which special cameras outside of your body can detect. The cameras use the energy to create pictures of many parts of your heart. + +Cardiac MRI (magnetic resonance imaging) is a safe procedure that uses radio waves and magnets to create detailed pictures of your heart. The test creates still and moving pictures of your heart and major blood vessels. + +Doctors use cardiac MRI to get pictures of the beating heart and to look at the structure and function of the heart. + +Cardiac Catheterization + +Cardiac catheterization is a procedure used to diagnose and treat certain heart conditions. A long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. Through the catheter, your doctor can do diagnostic tests and treatments on your heart. + +Sometimes dye is put into the catheter. The dye will flow through your bloodstream to your heart. The dye makes your coronary (heart) arteries visible on x-ray pictures. The dye can show whether plaque has narrowed or blocked any of your coronary arteries. + +Electrophysiology Study + +For an electrophysiology study, doctors use cardiac catheterization to record how your heart's electrical system responds to certain medicines and electrical stimulation. This helps your doctor find where the heart's electrical system is damaged. + +Blood Tests + +Your doctor may recommend blood tests to check the levels of potassium, magnesium, and other chemicals in your blood. These chemicals play an important role in your heart's electrical signaling.",NHLBI,Sudden Cardiac Arrest +What are the treatments for Sudden Cardiac Arrest ?,"Emergency Treatment + +Sudden cardiac arrest (SCA) is an emergency. A person having SCA needs to be treated with a defibrillator right away. This device sends an electric shock to the heart. The electric shock can restore a normal rhythm to a heart that's stopped beating. + +To work well, defibrillation must be done within minutes of SCA. With every minute that passes, the chances of surviving SCA drop rapidly. + +Police, emergency medical technicians, and other first responders usually are trained and equipped to use a defibrillator. Call 911 right away if someone has signs or symptoms of SCA. The sooner you call for help, the sooner lifesaving treatment can begin. + +Automated External Defibrillators + +Automated external defibrillators (AEDs) are special defibrillators that untrained bystanders can use. These portable devices often are found in public places, such as shopping malls, golf courses, businesses, airports, airplanes, casinos, convention centers, hotels, sports venues, and schools. + +AEDs are programmed to give an electric shock if they detect a dangerous arrhythmia, such as ventricular fibrillation. This prevents giving a shock to someone who may have fainted but isn't having SCA. + +You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. + +People who are at risk for SCA may want to consider having an AED at home. A 2008 study by the National Heart, Lung, and Blood Institute and the National Institutes of Health found that AEDs in the home are safe and effective. + +Some people feel that placing these devices in homes will save many lives because many SCAs occur at home.Others note that no evidence supports the idea that home-use AEDs save more lives. These people fear that people who have AEDs in their homes will delay calling for help during an emergency. They're also concerned that people who have home-use AEDs will not properly maintain the devices or forget where they are. + +When considering a home-use AED, talk with your doctor. He or she can help you decide whether having an AED in your home will benefit you. + +Treatment in a Hospital + +If you survive SCA, you'll likely be admitted to a hospital for ongoing care and treatment. In the hospital, your medical team will closely watch your heart. They may give you medicines to try to reduce the risk of another SCA. + +While in the hospital, your medical team will try to find out what caused your SCA. If you're diagnosed with coronary heart disease, you may havepercutaneous coronary intervention, also known as coronary angioplasty,or coronary artery bypass grafting. These procedures help restore blood flow through narrowed or blocked coronary arteries. + +Often, people who have SCA get a device called an implantable cardioverter defibrillator (ICD). This small device is surgically placed under the skin in your chest or abdomen. An ICD uses electric pulses or shocks to help control dangerous arrhythmias. (For more information, go to ""How Can Death Due to Sudden Cardiac Arrest Be Prevented?"")",NHLBI,Sudden Cardiac Arrest +How to prevent Sudden Cardiac Arrest ?,"Ways to prevent death due to sudden cardiac arrest (SCA) differ depending on whether: + +You've already had SCA + +You've never had SCA but are at high risk for the condition + +You've never had SCA and have no known risk factors for the condition + +For People Who Have Survived Sudden Cardiac Arrest + +If you've already had SCA, you're at high risk of having it again. Research shows that an implantable cardioverter defibrillator (ICD) reduces the chances of dying from a second SCA.An ICD is surgically placed under the skin in your chest or abdomen. The device has wires with electrodes on the ends that connect to your heart's chambers. The ICD monitors your heartbeat. + +If the ICD detects a dangerous heart rhythm, it gives an electric shock to restore the heart's normal rhythm. Your doctor may give you medicine to limit irregular heartbeats that can trigger the ICD. + +Implantable Cardioverter Defibrillator + + + +An ICD isn't the same as a pacemaker. The devices are similar, but they have some differences. Pacemakers give off low-energy electrical pulses. They're often used to treat less dangerous heart rhythms, such as those that occur in the upper chambers of the heart. Most new ICDs work as both pacemakers and ICDs. + +For People at High Risk for a First Sudden Cardiac Arrest + +If you have severe coronary heart disease (CHD), you're at increased risk for SCA. This is especially true if you've recently had a heart attack. + +Your doctor may prescribe a type of medicine called a beta blocker to help lower your risk for SCA. Your doctor also may discuss beginning statin treatment if you have an elevated risk for developing heart disease or having a stroke. Doctors usually prescribe statins for people who have: + +Diabetes + +Heart disease or had a prior stroke + +High LDL cholesterol levels + +Your doctor also may prescribe other medications to: + +Decrease your chance of having a heart attack or dying suddenly. + +Lower blood pressure. + +Prevent blood clots, which can lead to heart attack or stroke. + +Prevent or delay the need for a procedure or surgery, such as angioplasty or coronary artery bypass grafting. + +Reduce your hearts workload and relieve coronary heart disease symptoms. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart-healthy lifestyle, even if you take medicines to treat your coronary heart disease. + +Other treatments for coronary heart diseasesuch as percutaneous coronary intervention, also known as coronary angioplasty, or coronary artery bypass graftingalso may lower your risk for SCA. Your doctor also may recommend an ICD if youre at high risk for SCA. + +For People Who Have No Known Risk Factors for Sudden Cardiac Arrest + +CHD seems to be the cause of most SCAs in adults. CHD also is a major risk factor for angina (chest pain or discomfort) and heart attack, and it contributes to other heart problems. + +Following a healthy lifestyle can help you lower your risk for CHD, SCA, and other heart problems. A heart-healthy lifestyle includes: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Heart-healthy eating is an important part of a heart-healthy lifestyle. Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as skim milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +If you eat: + +Try to eat no more than: + +1,200 calories a day + +8 grams of saturated fat a day + +1,500 calories a day + +10 grams of saturated fat a day + +1,800 calories a day + +12 grams of saturated fat a day + +2,000 calories a day + +13 grams of saturated fat a day + +2,500 calories a day + +17 grams of saturated fat a day + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Limiting Alcohol + +Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. + +Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: + +12 ounces of beer + +5 ounces of wine + +1 ounces of liquor + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for sudden cardiac arrest. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes online BMI calculator or talk to your doctor. A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range + +Between 25.0 and 29.9 is considered overweight + +Of 30.0 or higher is considered obese + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3percent to 5percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + +Managing Stress + +Managing and coping with stress. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + +Physical Activity + +Regular physical activity can lower your risk for coronary heart disease, sudden cardiac arrest, and other health problems. Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week. + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans + +Quitting Smoking + +People who smoke are more likely to have a heart attack than are people who dont smoke. The risk of having a heart attack increases with the number of cigarettes smoked each day. Smoking also raises your risk for stroke and lung diseases, such as chronic obstructive pulmonary disease (COPD) and lung cancer. + +Quitting smoking can greatly reduce your risk for heart and lung diseases. Ask your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. Read more about how to quit smoking.",NHLBI,Sudden Cardiac Arrest +What is (are) Electrocardiogram ?,"An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works. + +With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As it travels, the signal causes the heart to contract and pump blood. The process repeats with each new heartbeat. + +The heart's electrical signals set the rhythm of the heartbeat. For more detailed information and animations, go to the Health Topics How the Heart Works article. + +An EKG shows: + +How fast your heart is beating + +Whether the rhythm of your heartbeat is steady or irregular + +The strength and timing of electrical signals as they pass through each part of your heart + +Doctors use EKGs to detect and study many heart problems, such as heart attacks, arrhythmias (ah-RITH-me-ahs), and heart failure. The test's results also can suggest other disorders that affect heart function.",NHLBI,Electrocardiogram +What is the outlook for Electrocardiogram ?,"You don't need to take any special steps before having an electrocardiogram (EKG). However, tell your doctor or his or her staff about the medicines you're taking. Some medicines can affect EKG results.",NHLBI,Electrocardiogram +What is the outlook for Electrocardiogram ?,"An electrocardiogram (EKG) is painless and harmless. A nurse or technician will attach soft, sticky patches called electrodes to the skin of your chest, arms, and legs. The patches are about the size of a quarter. + +Often, 12 patches are attached to your body. This helps detect your heart's electrical activity from many areas at the same time. The nurse may have to shave areas of your skin to help the patches stick. + +After the patches are placed on your skin, you'll lie still on a table while the patches detect your heart's electrical signals. A machine will record these signals on graph paper or display them on a screen. + +The entire test will take about 10 minutes. + +EKG + + + +Special Types of Electrocardiogram + +The standard EKG described above, called a resting 12-lead EKG, only records seconds of heart activity at a time. It will show a heart problem only if the problem occurs during the test. + +Many heart problems are present all the time, and a resting 12-lead EKG will detect them. But some heart problems, like those related to an irregular heartbeat, can come and go. They may occur only for a few minutes a day or only while you exercise. + +Doctors use special EKGs, such as stress tests and Holter and event monitors, to help diagnose these kinds of problems. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while an EKG is done. If you can't exercise, you'll be given medicine to make your heart work hard and beat fast. + +For more information, go to the Health Topics Stress Testing article. + +Holter and Event Monitors + +Holter and event monitors are small, portable devices. They record your heart's electrical activity while you do your normal daily activities. A Holter monitor records your heart's electrical activity for a full 24- or 48-hour period. + +An event monitor records your heart's electrical activity only at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +For more information, go to the Health Topics Holter and Event Monitors article.",NHLBI,Electrocardiogram +What is the outlook for Electrocardiogram ?,"After an electrocardiogram (EKG), the nurse or technician will remove the electrodes (soft patches) from your skin. You may develop a rash or redness where the EKG patches were attached. This mild rash often goes away without treatment. + +You usually can go back to your normal daily routine after an EKG.",NHLBI,Electrocardiogram +Who is at risk for Electrocardiogram? ?,"An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks. + +You may develop a mild rash where the electrodes (soft patches) were attached. This rash often goes away without treatment.",NHLBI,Electrocardiogram +What is (are) Pericarditis ?,"Pericarditis (PER-i-kar-DI-tis) is a condition in which the membrane, or sac, around your heart is inflamed. This sac is called the pericardium (per-i-KAR-de-um). + +The pericardium holds the heart in place and helps it work properly. The sac is made of two thin layers of tissue that enclose your heart. Between the two layers is a small amount of fluid. This fluid keeps the layers from rubbing against each other and causing friction. + +Pericardium + + + +In pericarditis, the layers of tissue become inflamed and can rub against the heart. This causes chest pain, a common symptom of pericarditis. + +The chest pain from pericarditis may feel like pain from a heart attack. More often, the pain may be sharp and get worse when you inhale, and improve when you are sitting up and leaning forward. If you have chest pain, you should call 911 right away, as you may be having a heart attack. + +Overview + +In many cases, the cause of pericarditis is unknown. Viral infections are likely a common cause of pericarditis, although the virus may never be found. Bacterial, fungal, and other infections also can cause pericarditis. + +Other possible causes include heart attack or heart surgery, other medical conditions, injuries, and certain medicines. + +Pericarditis can be acute or chronic. ""Acute"" means that it occurs suddenly and usually doesn't last long. ""Chronic"" means that it develops over time and may take longer to treat. + +Both acute and chronic pericarditis can disrupt your heart's normal rhythm or function and possibly (although rarely) lead to death. However, most cases of pericarditis are mild; they clear up on their own or with rest and simple treatment. + +Other times, more intense treatments are needed to prevent complications. Treatments may include medicines and, less often, procedures or surgery. + +Outlook + +It may take from a few days to weeks or even months to recover from pericarditis. With proper and prompt treatment, such as rest and ongoing care, most people fully recover from pericarditis. Proper treatment also can help reduce the chance of getting the condition again.",NHLBI,Pericarditis +What causes Pericarditis ?,"In many cases, the cause of pericarditis (both acute and chronic) is unknown. + +Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis. + +Most cases of chronic, or recurring, pericarditis are thought to be the result of autoimmune disorders. Examples of such disorders include lupus, scleroderma, and rheumatoid arthritis. + +With autoimmune disorders, the body's immune system makes antibodies (proteins) that mistakenly attack the body's tissues or cells. + +Other possible causes of pericarditis are: + +Heart attack and heart surgery + +Kidney failure, HIV/AIDS, cancer, tuberculosis, and other health problems + +Injuries from accidents or radiation therapy + +Certain medicines, like phenytoin (an antiseizure medicine), warfarin and heparin (blood-thinning medicines), and procainamide (a medicine to treat irregular heartbeats)",NHLBI,Pericarditis +Who is at risk for Pericarditis? ?,"Pericarditis occurs in people of all ages. However, men aged 20 to 50 are more likely to develop it than others. + +People who are treated for acute pericarditis may get it again. This may happen in 15 to 30 percent of people who have the condition. A small number of these people go on to develop chronic pericarditis.",NHLBI,Pericarditis +What are the symptoms of Pericarditis ?,"The most common sign of acute pericarditis is sharp, stabbing chest pain. The pain usually comes on quickly. It often is felt in the middle or left side of the chest or over the front of the chest. You also may feel pain in one or both shoulders, the neck, back, and abdomen. + +The pain tends to ease when you sit up and lean forward. Lying down and deep breathing worsens it. For some people, the pain feels like a dull ache or pressure in the chest. + +The chest pain also may feel like pain from a heart attack. If you have chest pain, you should call 911 right away, as you may be having a heart attack. + +Some people with acute pericarditis develop a fever. Other symptoms are weakness, palpitations, trouble breathing, and coughing. (Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast.) + +The most common symptom of chronic pericarditis is chest pain. Chronic pericarditis also often causes tiredness, coughing, and shortness of breath. Severe cases of chronic pericarditis can lead to swelling in the stomach and legs and hypotension (low blood pressure). + +Complications of Pericarditis + +Two serious complications of pericarditis are cardiac tamponade (tam-po-NAD) and chronic constrictive pericarditis. + +Cardiac tamponade occurs if too much fluid collects in the pericardium (the sac around the heart). The extra fluid puts pressure on the heart. This prevents the heart from properly filling with blood. As a result, less blood leaves the heart, which causes a sharp drop in blood pressure. If left untreated, cardiac tamponade can be fatal. + +Chronic constrictive pericarditis is a rare disease that develops over time. It leads to scar-like tissue forming throughout the pericardium. The sac becomes stiff and can't move properly. In time, the scarred tissue compresses the heart and prevents it from working well.",NHLBI,Pericarditis +How to diagnose Pericarditis ?,"Your doctor will diagnose pericarditis based on your medical history, a physical exam, and the results from tests. + +Specialists Involved + +Primary care doctorssuch as a family doctor, internist, or pediatricianoften diagnose and treat pericarditis. Other types of doctors also may be involved, such as a cardiologist, pediatric cardiologist, and an infectious disease specialist. + +A cardiologist treats adults who have heart problems. A pediatric cardiologist treats children who have heart problems. An infectious disease specialist treats people who have infections. + +Medical History + +Your doctor may ask whether you: + +Have had a recent respiratory infection or flu-like illness + +Have had a recent heart attack or injury to your chest + +Have any other medical conditions + +Your doctor also may ask about your symptoms. If you have chest pain, he or she will ask you to describe how it feels, where it's located, and whether it's worse when you lie down, breathe, or cough. + +Physical Exam + +When the pericardium (the sac around your heart) is inflamed, the amount of fluid between its two layers of tissue increases. As part of the exam, your doctor will look for signs of excess fluid in your chest. + +A common sign is the pericardial rub. This is the sound of the pericardium rubbing against the outer layer of your heart. Your doctor will place a stethoscope on your chest to listen for this sound. + +Your doctor may hear other chest sounds that are signs of fluid in the pericardium (pericardial effusion) or the lungs (pleural effusion). These are more severe problems related to pericarditis. + +Diagnostic Tests + +Your doctor may recommend one or more tests to diagnose your condition and show how severe it is. The most common tests are: + +EKG (electrocardiogram). This simple test detects and records your heart's electrical activity. Certain EKG results suggest pericarditis. + +Chest x ray. A chest x ray creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show whether you have an enlarged heart. This is a sign of excess fluid in your pericardium. + +Echocardiography. This painless test uses sound waves to create pictures of your heart. The pictures show the size and shape of your heart and how well your heart is working. This test can show whether fluid has built up in the pericardium. + +Cardiac CT (computed tomography (to-MOG-rah-fee)). This is a type of x ray that takes a clear, detailed picture of your heart and pericardium. A cardiac CT helps rule out other causes of chest pain. + +Cardiac MRI (magnetic resonance imaging). This test uses powerful magnets and radio waves to create detailed pictures of your organs and tissues. A cardiac MRI can show changes in the pericardium. + +Your doctor also may recommend blood tests. These tests can help your doctor find out whether you've had a heart attack, the cause of your pericarditis, and how inflamed your pericardium is.",NHLBI,Pericarditis +What are the treatments for Pericarditis ?,"Most cases of pericarditis are mild; they clear up on their own or with rest and simple treatment. Other times, more intense treatment is needed to prevent complications. Treatment may include medicines and, less often, procedures or surgery. + +The goals of treatment include: + +Reducing pain and inflammation + +Treating the underlying cause, if it's known + +Checking for complications + +Specific Types of Treatment + +As a first step in your treatment, your doctor may advise you to rest until you feel better and have no fever. He or she may tell you to take over-the-counter, anti-inflammatory medicines to reduce pain and inflammation. Examples of these medicines include aspirin and ibuprofen. + +You may need stronger medicine if your pain is severe. If your pain continues to be severe, your doctor may prescribe a medicine called colchicine and, possibly, prednisone (a steroid medicine). + +If an infection is causing your pericarditis, your doctor will prescribe an antibiotic or other medicine to treat the infection. + +You may need to stay in the hospital during treatment for pericarditis so your doctor can check you for complications. + +The symptoms of acute pericarditis can last from a few days to 3 weeks. Chronic pericarditis may last several months. + +Other Types of Treatment + +You may need treatment for complications of pericarditis. Two serious complications are cardiac tamponade and chronic constrictive pericarditis. + +Cardiac tamponade is treated with a procedure called pericardiocentesis (per-ih-KAR-de-o-sen-TE-sis). A needle or tube (called a catheter) is inserted into the chest wall to remove excess fluid in the pericardium. This procedure relieves pressure on the heart. + +The only cure for chronic constrictive pericarditis is surgery to remove the pericardium. This is known as a pericardiectomy (PER-i-kar-de-EK-to-me). + +The treatments for these complications require hospital stays.",NHLBI,Pericarditis +How to prevent Pericarditis ?,"You usually can't prevent acute pericarditis. You can take steps to reduce your chance of having another acute episode, having complications, or getting chronic pericarditis. + +These steps include getting prompt treatment, following your treatment plan, and having ongoing medical care (as your doctor advises).",NHLBI,Pericarditis +What is (are) Asbestos-Related Lung Diseases ?,"Asbestos-related lung diseases are diseases caused by exposure to asbestos (as-BES-tos) fibers. Asbestos is a mineral that, in the past, was widely used in many industries. + +Asbestos is made up of tiny fibers that can escape into the air. When breathed in, these fibers can stay in your lungs for a long time. If the fibers build up in your lungs, they can lead to: + +Pleural plaque. In this condition, the tissue around the lungs and diaphragm (the muscle below your lungs) thickens and hardens. This tissue is called the pleura. Pleural plaque usually causes no symptoms. Rarely, as the pleura thickens, it can trap and compress part of the lung. This may show up as a mass on an x-ray image. + +Pleural effusion. In this condition, excess fluid builds up in the pleural space. The pleural space is the area between the lungs and the chest wall. + +Asbestosis (as-bes-TOE-sis). In this condition, the lung tissue becomes scarred. People who have asbestosis are at greater risk for lung cancer, especially if they smoke. + +Lung cancer. This type of cancer forms in the lung tissue, usually in the cells lining the air passages. + +Mesothelioma (MEZ-o-thee-lee-O-ma). This disease is cancer of the pleura. + +Asbestos also can cause cancer in the lining of the abdominal cavity. This lining is known as the peritoneum (PER-ih-to-NE-um). + +Asbestos-Related Lung Diseases + + + +Overview + +Until the 1970s, asbestos was widely used in many industries in the United States. For example, it was used to insulate pipes, boilers, and ships; make brakes; strengthen cement; and fireproof many items, such as drywall. + +People who worked around asbestos during that time are at risk for asbestos-related lung diseases. People at highest risk include: + +Unprotected workers who made, installed, or removed products containing asbestos. People who worked near others who did these jobs also are at risk. + +Family members of workers who were exposed to asbestos. Family members may have breathed in asbestos fibers that workers brought home on their clothes, shoes, or bodies. + +People who live in areas with large deposits of asbestos in the soil. This risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air. + +Asbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing these products during building renovations also can release asbestos fibers into the air. + +Generally, being around asbestos-made products isnt a danger as long as the asbestos is enclosed. This prevents the fibers from getting into the air. + +People in the United States are less likely to have asbestos-related lung diseases now because the mineral is no longer widely used. + +The use of asbestos is heavily restricted, and rules and standards are now in place to protect workers and others from asbestos exposure. Asbestos is found in only a few new products, such as gaskets used in brakes. + +However, many countries do not yet restrict asbestos use. People in those countries are still exposed to the mineral. + +Outlook + +The outlook for people who have asbestos-related lung diseases can vary. It will depend on which disease a person has and how much it has damaged the lungs. + +No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms, slow the progress of the disease, and prevent complications. + +If you've been exposed to asbestos, let your doctor know. He or she can watch you for signs of asbestos-related problems and start treatment early, if needed. Early treatment may help prevent or delay complications. + +Quitting smoking and making other lifestyle changes may help people who are at high risk for asbestos-related lung diseases. These lifestyle changes may prevent more serious diseases, such as cancer.",NHLBI,Asbestos-Related Lung Diseases +What causes Asbestos-Related Lung Diseases ?,"Significant exposure to asbestos fibers causes asbestos-related lung diseases. ""Significant"" usually means you were exposed for at least several months to visible dust from the fibers. + +Asbestos fibers are very small. When you breathe in, they can get stuck deep in your lungs. The fibers remain in your lung tissue for a long time and may cause scarring and inflammation. This can lead to pleural plaque and widespread pleural thickening, pleural effusion, asbestosis, lung cancer, or mesothelioma. + +Generally, asbestos-related lung diseases develop 10 to 40 or more years after a person has been exposed to asbestos. + +Being around products that contain asbestos isn't a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air.",NHLBI,Asbestos-Related Lung Diseases +Who is at risk for Asbestos-Related Lung Diseases? ?,"Until the late 1970s, asbestos was widely used in many industries in the United States. During that time, workplace rules to ensure workers' safety around asbestos weren't required by law. + +Asbestos was used in or with many products. Examples include steam pipes, boilers, furnaces, and furnace ducts; wallboard; floor and ceiling tiles; wood-burning stoves and gas fireplaces; car brakes, clutches, and gaskets; railroad engines; roofing and shingles; and wall-patching materials and paints. + +Asbestos also was used in many other products, such as fireproof gloves, ironing board covers, cooking pot handles, and hairdryers. + +Anyone employed for a prolonged period in mining, milling, making, or installing asbestos products before the late 1970s is at risk for asbestos-related lung diseases. Some examples of these workers include: + +Miners + +Aircraft and auto mechanics + +Building construction workers + +Electricians + +Shipyard workers + +Boiler operators + +Building engineers + +Railroad workers + +In general, the risk is greatest for people who worked with asbestos and were exposed for at least several months to visible dust from asbestos fibers. The risk for asbestos-related lung diseases also depends on: + +How much asbestos you were exposed to. + +How long you were exposed to asbestos, and how often during that time you were in direct contact with it. + +The size, shape, and chemical makeup of the asbestos fibers. Different types of asbestos fibers can affect the lungs differently. For example, chrysotile asbestos (a curly fiber) is less likely to cause mesothelioma than amphibole asbestos (a straight fiber). + +Your personal risks, such as smoking or having an existing lung disease. + +Family members of people exposed to asbestos on the job also may be at risk. Family members may have breathed in asbestos fibers that were brought home on workers clothes, shoes, and bodies. + +People who live in areas that have large deposits of asbestos in the soil also are at risk for asbestos-related lung diseases. However, this risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air. + +Asbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing the products, such as during a building renovation, also can release asbestos fibers into the air. + +Generally, being around asbestos-made products isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air. + +People in the United States are less likely to develop asbestos-related lung diseases today than in the past. This is because the mineral no longer is widely used. Also, where asbestos is still used, rules and standards are now in place to protect workers and others from asbestos exposure.",NHLBI,Asbestos-Related Lung Diseases +What are the symptoms of Asbestos-Related Lung Diseases ?,"The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos. + +If you have pleural plaque, you may not have any signs or symptoms. Pleural effusion may cause pain on one side of the chest. Both conditions often are found with a chest x ray. These conditions may occur earlier than other asbestos-related lung diseases. + +The main symptom of asbestosis is shortness of breath with physical exertion. You also may have a dry cough and feel tired. If your doctor listens to your lungs with a stethoscope, he or she may hear a crackling sound when you breathe in. + +The symptoms of lung cancer may include a worsening cough or a cough that won't go away, trouble breathing, ongoing chest pain, and coughing up blood. Other symptoms of lung cancer include frequent lung infections, fatigue (tiredness), and weight loss without a known cause. + +Symptoms of mesothelioma include shortness of breath and chest pain due to pleural effusion.",NHLBI,Asbestos-Related Lung Diseases +How to diagnose Asbestos-Related Lung Diseases ?,"Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results. + +Specialists Involved + +Your primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. Other specialists also may be involved in your care, including a: + +Pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases. + +Radiologist. This is a doctor who is specially trained to supervise x-ray tests and look at x-ray pictures. + +Surgeon or oncologist. An oncologist is a doctor who specializes in diagnosing and treating cancer. The surgeon or oncologist may take a tissue sample from your lungs to study under a microscope. + +Pathologist. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. A pathologist may study your tissue sample. + +Exposure to Asbestos + +Your doctor will want to know about your history of asbestos exposure. He or she may ask about your work history and your spouse's or other family members work histories. + +Your doctor also may ask about your location and surroundings. For example, he or she may ask about areas of the country where you've lived. + +If you know you were exposed to asbestos, your doctor may ask questions to find out: + +How much asbestos you were exposed to. For example, were you surrounded by visible asbestos dust? + +How long you were exposed to asbestos and how often during that time you were in direct contact with it. + +Symptoms + +Your doctor may ask whether you have any symptoms, such as shortness of breath or coughing. The symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. + +Your doctor also may ask whether you smoke. Smoking, along with asbestos exposure, raises your risk for lung cancer. + +Physical Exam + +Your doctor will listen to your breathing with a stethoscope to find out whether your lungs are making any strange sounds. + +If you have a pleural effusion with a lot of fluid buildup, your doctor might hear a dull sound when he or she taps on your chest. Or, he or she might have trouble hearing any breathing sounds. If you have asbestosis, your doctor may hear a crackling sound when you breathe in. + +Your doctor will check your legs for swelling, which may be a sign of lung-related problems. He or she also will check your fingers and toes for clubbing. + +Clubbing is the widening and rounding of the fingertips and toes. Clubbing most often is linked to heart and lung diseases that cause lower-than-normal blood oxygen levels. + +Chest X Ray + +A chest x ray is the most common test for detecting asbestos-related lung diseases. This painless test creates pictures of the structures inside your chest, such as the lungs. + +A chest x ray cant detect asbestos fibers in the lungs. However, it can show asbestos-related diseases, such as pleural plaque and pleural effusion. Pleural effusion also can be a sign of a more severe disease, such as mesothelioma. + +A chest x ray also can show asbestosis. Often the lung tissue will appear very white on the x-ray pictures. The size, shape, location, and degree of whiteness can help your doctor figure out how much lung damage you have. Severe asbestosis may affect the whole lung and have a honeycomb look on the x-ray pictures. + +If you have lung cancer, a chest x ray may show masses or abnormal fluid. + +If you have mesothelioma, a chest x ray will show thickening of the pleura. The pleura is the tissue around the lungs and diaphragm (the muscle below your lungs). The chest xray also will usually show signs of pleural effusion in people who have mesothelioma. + +Other Diagnostic Tests + +To help confirm a chest x-ray finding, or to find out how much lung damage you have, you may have more tests. + +Chest Computed Tomography Scan + +A chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, is a painless test that creates precise pictures of the structures inside your chest, such as your lungs. A CT scan is a type of x ray, but its pictures show more detail than standard chest x-ray pictures. + +A chest CT scan may be very helpful for finding asbestosis in its earliest stages, before a standard chest x ray can detect it. + +Lung Function Tests + +Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. + +These tests can show whether your lung function is impaired. They also can help your doctor track your disease over time. + +Biopsy + +The only way to confirm a diagnosis of lung cancer or mesothelioma is for a pathologist to check samples of your lung cells or tissues. A pathologist is a doctor who identifies diseases by studying cells and tissues under a microscope. + +Doctors have many ways to collect tissue samples. One way is through bronchoscopy (bron-KOS-ko-pee). For this procedure, your doctor will pass a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. He or she will then take a sample of tissue from your lungs. + +If your doctor thinks you have mesothelioma, you may have a thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, you'll be given medicine so you don't feel any pain. + +Your doctor will make a small cut through your chest wall. He or she will put a thin tube with a light on it into your chest between two ribs. This allows your doctor to see inside your chest and get tissue samples.",NHLBI,Asbestos-Related Lung Diseases +What are the treatments for Asbestos-Related Lung Diseases ?,"No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms and prevent or delay complications. If you have lung cancer, treatments may help slow the progress of the disease. + +Treatments for Pleural Plaque, Pleural Effusion, and Asbestosis + +If you have pleural plaque, pleural effusion, or asbestosis and you smoke, your doctor will advise you to quit smoking. People who have these conditions can lower their risk for lung cancer if they quit smoking. + +Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking. + +If you have trouble breathing or shortness of breath and a very low blood oxygen level, your doctor may recommend oxygen therapy. For this treatment, you're given oxygen through nasal prongs or a mask. Oxygen therapy may be done at home or in a hospital or other health facility. + +If excess fluid around the lungs (pleural effusion) is making it hard for you to breathe, thoracentesis (THOR-ah-sen-TE-sis) may help. For this procedure, your doctor will insert a thin needle or plastic tube into the space between your lungs and chest wall. He or she will then draw out the excess fluid. + +Treatments for Lung Cancer and Mesothelioma + +If you have lung cancer or mesothelioma, your treatment may include surgery, chemotherapy, radiation therapy, and/or targeted therapy. (Targeted therapy uses medicines or other substances to find and attack specific lung cancer cells without harming normal cells.) + +Your doctor may prescribe medicines to prevent fluid buildup, ease pain, or relieve other complications of your disease. + +If you have lung cancer or mesothelioma, talk with your doctor about whether you should get flu and pneumonia vaccines. These vaccines can help lower your risk for lung infections.",NHLBI,Asbestos-Related Lung Diseases +How to prevent Asbestos-Related Lung Diseases ?,"You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers. + +If you live in a house or work in a building that has pipes or other products containing asbestos, you generally dont need to take special precautions. Being around products that contain asbestos isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air. + +If you smoke, quit. Smoking greatly increases your risk of lung cancer if you have pleural plaque, pleural effusion, or asbestosis. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking.",NHLBI,Asbestos-Related Lung Diseases +What is (are) Idiopathic Pulmonary Fibrosis ?,"Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a disease in which tissue deep in your lungs becomes thick and stiff, or scarred, over time. The formation of scar tissue is called fibrosis. + +As the lung tissue thickens, your lungs can't properly move oxygen into your bloodstream. As a result, your brain and other organs don't get the oxygen they need. (For more information, go to the ""How the Lungs Work"" section of this article.) + +Sometimes doctors can find out what's causing fibrosis. But in most cases, they can't find a cause. They call these cases idiopathic (id-ee-o-PATH-ick) pulmonary fibrosis (IPF). + +IPF is a serious disease that usually affects middle-aged and older adults. IPF varies from person to person. In some people, fibrosis happens quickly. In others, the process is much slower. In some people, the disease stays the same for years. + +IPF has no cure yet. Many people live only about 3 to 5 years after diagnosis. The most common cause of death related to IPF is respiratory failure. Other causes of death include pulmonary hypertension (HI-per-TEN-shun), heart failure, pulmonary embolism (EM-bo-lizm), pneumonia (nu-MO-ne-ah), and lung cancer. + +Genetics may play a role in causing IPF. If more than one member of your family has IPF, the disease is called familial IPF. + +Research has helped doctors learn more about IPF. As a result, they can more quickly diagnose the disease now than in the past. Also, researchers are studying several medicines that may slow the progress of IPF. These efforts may improve the lifespan and quality of life for people who have the disease.",NHLBI,Idiopathic Pulmonary Fibrosis +What causes Idiopathic Pulmonary Fibrosis ?,"Sometimes doctors can find out what is causing pulmonary fibrosis (lung scarring). For example, exposure to environmental pollutants and certain medicines can cause the disease. + +Environmental pollutants include inorganic dust (silica and hard metal dusts) and organic dust (bacteria and animal proteins). + +Medicines that are known to cause pulmonary fibrosis in some people include nitrofurantoin (an antibiotic), amiodarone (a heart medicine), methotrexate and bleomycin (both chemotherapy medicines), and many other medicines. + +In most cases, however, the cause of lung scarring isnt known. These cases are called idiopathic pulmonary fibrosis (IPF). With IPF, doctors think that something inside or outside of the lungs attacks them again and again over time. + +These attacks injure the lungs and scar the tissue inside and between the air sacs. This makes it harder for oxygen to pass through the air sac walls into the bloodstream. + +The following factors may increase your risk of IPF: + +Cigarette smoking + +Viral infections, including Epstein-Barr virus (which causes mononucleosis), influenza A virus, hepatitis C virus, HIV, and herpes virus 6 + +Genetics also may play a role in causing IPF. Some families have at least two members who have IPF. + +Researchers have found that 9 out of 10 people who have IPF also have gastroesophageal reflux disease (GERD). GERD is a condition in which acid from your stomach backs up into your throat. + +Some people who have GERD may regularly breathe in tiny drops of acid from their stomachs. The acid can injure their lungs and lead to IPF. More research is needed to confirm this theory.",NHLBI,Idiopathic Pulmonary Fibrosis +What are the symptoms of Idiopathic Pulmonary Fibrosis ?,"The signs and symptoms of idiopathic pulmonary fibrosis (IPF) develop over time. They may not even begin to appear until the disease has done serious damage to your lungs. Once they occur, they're likely to get worse over time. + +The most common signs and symptoms are: + +Shortness of breath. This usually is the main symptom of IPF. At first, you may be short of breath only during exercise. Over time, you'll likely feel breathless even at rest. + +A dry, hacking cough that doesn't get better. Over time, you may have repeated bouts of coughing that you can't control. + +Other signs and symptoms that you may develop over time include: + +Rapid, shallow breathing + +Gradual, unintended weight loss + +Fatigue (tiredness) or malaise (a general feeling of being unwell) + +Aching muscles and joints + +Clubbing, which is the widening and rounding of the tips of the fingers or toes + +Clubbing + + + +IPF may lead to other medical problems, including a collapsed lung, lung infections, blood clots in the lungs, and lung cancer. + +As the disease worsens, you may develop other potentially life-threatening conditions, including respiratory failure, pulmonary hypertension, and heart failure.",NHLBI,Idiopathic Pulmonary Fibrosis +How to diagnose Idiopathic Pulmonary Fibrosis ?,"Idiopathic pulmonary fibrosis (IPF) causes the same kind of scarring and symptoms as some other lung diseases. This makes it hard to diagnose. + +Seeking medical help as soon as you have symptoms is important. If possible, seek care from a pulmonologist. This is a doctor who specializes in diagnosing and treating lung problems. + +Your doctor will diagnose IPF based on your medical history, a physical exam, and test results. Tests can help rule out other causes of your symptoms and show how badly your lungs are damaged. + +Medical History + +Your doctor may ask about: + +Your age + +Your history of smoking + +Things in the air at your job or elsewhere that could irritate your lungs + +Your hobbies + +Your history of legal and illegal drug use + +Other medical conditions that you have + +Your family's medical history + +How long you've had symptoms + +Diagnostic Tests + +No single test can diagnose IPF. Your doctor may recommend several of the following tests. + +Chest X Ray + +A chest x ray is a painless test that creates a picture of the structures in your chest, such as your heart and lungs. This test can show shadows that suggest scar tissue. However, many people who have IPF have normal chest x rays at the time they're diagnosed. + +High-Resolution Computed Tomography + +A high-resolution computed tomography scan, or HRCT scan, is an x ray that provides sharper and more detailed pictures than a standard chest x ray. + +HRCT can show scar tissue and how much lung damage you have. This test can help your doctor spot IPF at an early stage or rule it out. HRCT also can help your doctor decide how likely you are to respond to treatment. + +Lung Function Tests + +Your doctor may suggest a breathing test called spirometry(spi-ROM-eh-tree) to find out how much lung damage you have. This test measures how much air you can blow out of your lungs after taking a deep breath. Spirometry also measures how fast you can breathe the air out. + +If you have a lot of lung scarring, you won't be able to breathe out a normal amount of air. + +Pulse Oximetry + +For this test, your doctor attaches a small sensor to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. + +Arterial Blood Gas Test + +For this test, your doctor takes a blood sample from an artery, usually in your wrist. The sample is sent to a laboratory, where its oxygen and carbon dioxide levels are measured. + +This test is more accurate than pulse oximetry. The blood sample also can be tested to see whether an infection is causing your symptoms. + +Skin Test for Tuberculosis + +For this test, your doctor injects a substance under the top layer of skin on one of your arms. This substance reacts to tuberculosis (TB). If you have a positive reaction, a small hard lump will develop at the injection site 48 to 72 hours after the test. This test is done to rule out TB. + +Exercise Testing + +Exercise testing shows how well your lungs move oxygen and carbon dioxide in and out of your bloodstream when you're active. During this test, you walk or pedal on an exercise machine for a few minutes. + +An EKG(electrocardiogram) checks your heart rate, a blood pressure cuff checks your blood pressure, and a pulse oximeter shows how much oxygen is in your blood. + +Your doctor may place a catheter (a flexible tube) in an artery in one of your arms to draw blood samples. These samples will provide a more precise measure of the oxygen and carbon dioxide levels in your blood. + +Your doctor also may ask you to breathe into a tube that measures oxygen and carbon dioxide levels in your blood. + +Lung Biopsy + +For a lung biopsy, your doctor will take samples of lung tissue from several places in your lungs. The samples are examined under a microscope. A lung biopsy is the best way for your doctor to diagnose IPF. + +This procedure can help your doctor rule out other conditions, such as sarcoidosis (sar-koy-DO-sis), cancer, or infection. Lung biopsy also can show your doctor how far your disease has advanced. + +Doctors use several procedures to get lung tissue samples. + +Video-assisted thoracoscopy (thor-ah-KOS-ko-pee). This is the most common procedure used to get lung tissue samples. Your doctor inserts a small tube with an attached light and camera into your chest through small cuts between your ribs. The tube is called an endoscope. + +The endoscope provides a video image of the lungs and allows your doctor to collect tissue samples. This procedure must be done in a hospital. You'll be given medicine to make you sleep during the procedure. + +Bronchoscopy (bron-KOS-ko-pee). For a bronchoscopy, your doctor passes a thin, flexible tube through your nose or mouth, down your throat, and into your airways. At the tube's tip are a light and mini-camera. They allow your doctor to see your windpipe and airways. + +Your doctor then inserts a forceps through the tube to collect tissue samples. You'll be given medicine to help you relax during the procedure. + +Bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH). During bronchoscopy, your doctor may inject a small amount of salt water (saline) through the tube into your lungs. This fluid washes the lungs and helps bring up cells from the area around the air sacs. These cells are examined under a microscope. + +Thoracotomy (thor-ah-KOT-o-me). For this procedure, your doctor removes a few small pieces of lung tissue through a cut in the chest wall between your ribs. Thoracotomy is done in a hospital. You'll be given medicine to make you sleep during the procedure.",NHLBI,Idiopathic Pulmonary Fibrosis +What are the treatments for Idiopathic Pulmonary Fibrosis ?,"Doctors may prescribe medicines, oxygen therapy, pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF). + +Medicines + +Currently, no medicines are proven to slow the progression of IPF. + +Prednisone, azathioprine (A-zah-THI-o-preen), and N-acetylcysteine (a-SEH-til-SIS-tee-in) have been used to treat IPF, either alone or in combination. However, experts have not found enough evidence to support their use. + +Prednisone + +Prednisone is an anti-inflammatory medicine. You usually take it by mouth every day. However, your doctor may give it to you through a needle or tube inserted into a vein in your arm for several days. After that, you usually take it by mouth. + +Because prednisone can cause serious side effects, your doctor may prescribe it for 3 to 6 months or less at first. Then, if it works for you, your doctor may reduce the dose over time and keep you on it longer. + +Azathioprine + +Azathioprine suppresses your immune system. You usually take it by mouth every day. Because it can cause serious side effects, your doctor may prescribe it with prednisone for only 3 to 6 months. + +If you don't have serious side effects and the medicines seem to help you, your doctor may keep you on them longer. + +N-acetylcysteine + +N-acetylcysteine is an antioxidant that may help prevent lung damage. You usually take it by mouth several times a day. + +A common treatment for IPF is a combination of prednisone, azathioprine, and N-acetylcysteine. However, this treatment was recently found harmful in a study funded by the National Heart, Lung, and Blood Institute (NHLBI). + +If you have IPF and take this combination of medicines, talk with your doctor. Do not stop taking the medicines on your own. + +The NHLBI currently supports research to compare N-acetylcysteine treatment with placebo treatment (sugar pills) in patients who have IPF. + +New Medicines Being Studied + +Researchers, like those in the Idiopathic Pulmonary Fibrosis Network, are studying new treatments for IPF. With the support and guidance of the NHLBI, these researchers continue to look for new IPF treatments and therapies. + +Some of these researchers are studying medicines that may reduce inflammation and prevent or reduce scarring caused by IPF. + +If you're interested in joining a research study, talk with your doctor. For more information about ongoing research, go to the ""Clinical Trials"" section of this article. + +Other Treatments + +Other treatments that may help people who have IPF include the following: + +Flu andpneumonia vaccines may help prevent infections and keep you healthy. + +Cough medicines or oral codeine may relieve coughing. + +Vitamin D, calcium, and a bone-building medicine may help prevent bone loss if you're taking prednisone or another corticosteroid. + +Anti-reflux therapy may help control gastroesophageal reflux disease (GERD). Most people who have IPF also have GERD. + +Oxygen Therapy + +If the amount of oxygen in your blood gets low, you may need oxygen therapy. Oxygen therapy can help reduce shortness of breath and allow you to be more active. + +Oxygen usually is given through nasal prongs or a mask. At first, you may need it only during exercise and sleep. As your disease worsens, you may need it all the time. + +For more information, go to the Health Topics Oxygen Therapy article. + +Pulmonary Rehabilitation + +PR is now a standard treatment for people who have chronic (ongoing) lung disease. PR is a broad program that helps improve the well-being of people who have breathing problems. + +The program usually involves treatment by a team of specialists in a special clinic. The goal is to teach you how to manage your condition and function at your best. + +PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include: + +Exercise training + +Nutritional counseling + +Education on your lung disease or condition and how to manage it + +Energy-conserving techniques + +Breathing strategies + +Psychological counseling and/or group support + +For more information, go to the Health Topics Pulmonary Rehabilitation article. + +Lung Transplant + +Your doctor may recommend a lung transplant if your condition is quickly worsening or very severe. A lung transplant can improve your quality of life and help you live longer. + +Some medical centers will consider patients older than 65 for lung transplants if they have no other serious medical problems. + +The major complications of a lung transplant are rejection and infection. (""Rejection"" refers to your body creating proteins that attack the new organ.) You will have to take medicines for the rest of your life to reduce the risk of rejection. + +Because the supply of donor lungs is limited, talk with your doctor about a lung transplant as soon as possible. + +For more information, go to the Health Topics Lung Transplant article.",NHLBI,Idiopathic Pulmonary Fibrosis +What is (are) Overweight and Obesity ?,"Espaol + +The terms ""overweight"" and ""obesity"" refer to body weight thats greater than what is considered healthy for a certain height. + +The most useful measure of overweight and obesity is body mass index (BMI). BMI is calculated from your height and weight. For more information about BMI, go to ""How Are Overweight and Obesity Diagnosed?"" + +Overview + +Millions of Americans and people worldwide are overweight or obese. Being overweight or obese puts you at risk for many health problems. The more body fat that you have and the more you weigh, the more likely you are to develop: + +Coronary heart disease + +High blood pressure + +Type 2 diabetes + +Gallstones + +Breathing problems + +Certain cancers + +Your weight is the result of many factors. These factors include environment, family history and genetics, metabolism (the way your body changes food and oxygen into energy), behavior or habits, and more. + +You can't change some factors, such as family history. However, you can change other factors, such as your lifestyle habits. + +For example, follow a healthy eating plan and keep your calorie needs in mind. Be physically active and try to limit the amount of time that you're inactive. + +Weight-loss medicines and surgery also are options for some people if lifestyle changes aren't enough. + +Outlook + +Reaching and staying at a healthy weight is a long-term challenge for people who are overweight or obese. But it also is a chance to lower your risk for other serious health problems. With the right treatment and motivation, it's possible to lose weight and lower your long-term disease risk.",NHLBI,Overweight and Obesity +What causes Overweight and Obesity ?,"Lack of Energy Balance + +A lack of energy balance most often causes overweight and obesity. Energy balance means that your energy IN equals your energy OUT. + +Energy IN is the amount of energy or calories you get from food and drinks. Energy OUT is the amount of energy your body uses for things like breathing, digesting, and being physically active. + +To maintain a healthy weight, your energy IN and OUT don't have to balance exactly every day. It's the balance over time that helps you maintain a healthy weight. + +The same amount of energy IN and energy OUT over time = weight stays the same + +More energy IN than energy OUT over time = weight gain + +More energy OUT than energy IN over time = weight loss + +Overweight and obesity happen over time when you take in more calories than you use. + +Other Causes + +An Inactive Lifestyle + +Many Americans aren't very physically active. One reason for this is that many people spend hours in front of TVs and computers doing work, schoolwork, and leisure activities. In fact, more than 2 hours a day of regular TV viewing time has been linked to overweight and obesity. + +Other reasons for not being active include: relying on cars instead of walking, fewer physical demands at work or at home because of modern technology and conveniences, and lack of physical education classes in schools. + +People who are inactive are more likely to gain weight because they don't burn the calories that they take in from food and drinks. An inactive lifestyle also raises your risk for coronary heart disease, high blood pressure, diabetes, colon cancer, and other health problems. + +Environment + +Our environment doesn't support healthy lifestyle habits; in fact, it encourages obesity. Some reasons include: + +Lack of neighborhood sidewalks and safe places for recreation. Not having area parks, trails, sidewalks, and affordable gyms makes it hard for people to be physically active. + +Work schedules. People often say that they don't have time to be physically active because of long work hours and time spent commuting. + +Oversized food portions. Americans are exposed to huge food portions in restaurants, fast food places, gas stations, movie theaters, supermarkets, and even at home. Some of these meals and snacks can feed two or more people. Eating large portions means too much energy IN. Over time, this will cause weight gain if it isn't balanced with physical activity. + +Lack of access to healthy foods. Some people don't live in neighborhoods that have supermarkets that sell healthy foods, such as fresh fruits and vegetables. Or, for some people, these healthy foods are too costly. + +Food advertising. Americans are surrounded by ads from food companies. Often children are the targets of advertising for high-calorie, high-fat snacks and sugary drinks. The goal of these ads is to sway people to buy these high-calorie foods, and often they do. + +Genes and Family History + +Studies of identical twins who have been raised apart show that genes have a strong influence on a person's weight. Overweight and obesity tend to run in families. Your chances of being overweight are greater if one or both of your parents are overweight or obese. + +Your genes also may affect the amount of fat you store in your body and where on your body you carry the extra fat. Because families also share food and physical activity habits, a link exists between genes and the environment. + +Children adopt the habits of their parents. A child who has overweight parents who eat high-calorie foods and are inactive will likely become overweight too. However, if the family adopts healthy food and physical activity habits, the child's chance of being overweight or obese is reduced. + +Health Conditions + +Some hormone problems may cause overweight and obesity, such as underactive thyroid (hypothyroidism), Cushing's syndrome, and polycystic ovarian syndrome (PCOS). + +Underactive thyroid is a condition in which the thyroid gland doesn't make enough thyroid hormone. Lack of thyroid hormone will slow down your metabolism and cause weight gain. You'll also feel tired and weak. + +Cushing's syndrome is a condition in which the body's adrenal glands make too much of the hormone cortisol. Cushing's syndrome also can develop if a person takes high doses of certain medicines, such as prednisone, for long periods. + +People who have Cushing's syndrome gain weight, have upper-body obesity, a rounded face, fat around the neck, and thin arms and legs. + +PCOS is a condition that affects about 510 percent of women of childbearing age. Women who have PCOS often are obese, have excess hair growth, and have reproductive problems and other health issues. These problems are caused by high levels of hormones called androgens. + +Medicines + +Certain medicines may cause you to gain weight. These medicines include some corticosteroids, antidepressants, and seizure medicines. + +These medicines can slow the rate at which your body burns calories, increase your appetite, or cause your body to hold on to extra water. All of these factors can lead to weight gain. + +Emotional Factors + +Some people eat more than usual when they're bored, angry, or stressed. Over time, overeating will lead to weight gain and may cause overweight or obesity. + +Smoking + +Some people gain weight when they stop smoking. One reason is that food often tastes and smells better after quitting smoking. + +Another reason is because nicotine raises the rate at which your body burns calories, so you burn fewer calories when you stop smoking. However, smoking is a serious health risk, and quitting is more important than possible weight gain. + +Age + +As you get older, you tend to lose muscle, especially if you're less active. Muscle loss can slow down the rate at which your body burns calories. If you don't reduce your calorie intake as you get older, you may gain weight. + +Midlife weight gain in women is mainly due to aging and lifestyle, but menopause also plays a role. Many women gain about 5 pounds during menopause and have more fat around the waist than they did before. + +Pregnancy + +During pregnancy, women gain weight to support their babies growth and development. After giving birth, some women find it hard to lose the weight. This may lead to overweight or obesity, especially after a few pregnancies. + +Lack of Sleep + +Research shows that lack of sleep increases the risk of obesity. For example, one study of teenagers showed that with each hour of sleep lost, the odds of becoming obese went up. Lack of sleep increases the risk of obesity in other age groups as well. + +People who sleep fewer hours also seem to prefer eating foods that are higher in calories and carbohydrates, which can lead to overeating, weight gain, and obesity. + +Sleep helps maintain a healthy balance of the hormones that make you feel hungry (ghrelin) or full (leptin). When you don't get enough sleep, your level of ghrelin goes up and your level of leptin goes down. This makes you feel hungrier than when you're well-rested. + +Sleep also affects how your body reacts to insulin, the hormone that controls your blood glucose (sugar) level. Lack of sleep results in a higher than normal blood sugar level, which may increase your risk for diabetes. + +For more information, go to the Health Topics Sleep Deprivation and Deficiency article.",NHLBI,Overweight and Obesity +Who is at risk for Overweight and Obesity? ?,"Being overweight or obese isn't a cosmetic problem. These conditions greatly raise your risk for other health problems. + +Overweight and Obesity-Related Health Problems in Adults + +Coronary Heart Disease + +As your body mass index rises, so does your risk for coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart. + +Plaque can narrow or block the coronary arteries and reduce blood flow to the heart muscle. This can cause angina (an-JI-nuh or AN-juh-nuh) or a heart attack. (Angina is chest pain or discomfort.) + +Obesity also can lead to heart failure. This is a serious condition in which your heart can't pump enough blood to meet your body's needs. + +High Blood Pressure + +Blood pressure is the force of blood pushing against the walls of the arteries as theheart pumps blood. If this pressure rises and stays high over time, it can damage the body in many ways. + +Your chances of having high blood pressure are greater if you're overweight or obese. + +Stroke + +Being overweight or obese can lead to a buildup of plaque in your arteries. Eventually, an area of plaque can rupture, causing a blood clot to form. + +If the clot is close to your brain, it can block the flow of blood and oxygen to your brain and cause a stroke. The risk of having a stroke rises as BMI increases. + +Type 2 Diabetes + +Diabetes is a disease in which the body's blood glucose, or blood sugar, level is too high. Normally, the body breaks down food into glucose and then carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy. + +In type 2 diabetes, the body's cells don't use insulin properly. At first, the body reacts by making more insulin. Over time, however, the body can't make enough insulin to control its blood sugar level. + +Diabetes is a leading cause of early death, CHD, stroke, kidney disease, and blindness. Most people who have type 2 diabetes are overweight. + +Abnormal Blood Fats + +If you're overweight or obese, you're at increased risk of having abnormal levels of blood fats. These include high levels of triglycerides and LDL (""bad"") cholesterol and low levels of HDL (""good"") cholesterol. + +Abnormal levels of these blood fats are a risk factor for CHD. For more information about triglycerides and LDL and HDL cholesterol, go to the Health Topics High Blood Cholesterol article. + +Metabolic Syndrome + +Metabolic syndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. + +You can develop any one of these risk factors by itself, but they tend to occur together. A diagnosis of metabolic syndrome is made if you have at least three of the following risk factors: + +A large waistline. This is called abdominal obesity or ""having an apple shape."" Having extra fat in the waist area is a greater risk factor for CHD than having extra fat in other parts of the body, such as on the hips. + +A higher than normal triglyceride level (or you're on medicine to treat high triglycerides). + +A lower than normal HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). + +Higher than normal blood pressure (or you're on medicine to treat high blood pressure). + +Higher than normal fasting blood sugar (or you're on medicine to treat diabetes). + +Cancer + +Being overweight or obese raises your risk for colon, breast, endometrial, and gallbladder cancers. + +Osteoarthritis + +Osteoarthritis is a common joint problem of the knees, hips, and lower back. The condition occurs if the tissue that protects the joints wears away. Extra weight can put more pressure and wear on joints, causing pain. + +Sleep Apnea + +Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. + +A person who has sleep apnea may have more fat stored around the neck. This can narrow the airway, making it hard to breathe. + +Obesity Hypoventilation Syndrome + +Obesity hypoventilation syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia). + +OHS can lead to serious health problems and may even cause death. + +Reproductive Problems + +Obesity can cause menstrual issues and infertility in women. + +Gallstones + +Gallstones are hard pieces of stone-like material that form in the gallbladder. They're mostly made of cholesterol. Gallstones can cause stomach or back pain. + +People who are overweight or obese are at increased risk of having gallstones. Also, being overweight may result in an enlarged gallbladder that doesn't work well. + +Overweight and Obesity-Related Health Problems in Children and Teens + +Overweight and obesity also increase the health risks for children and teens. Type2 diabetes once was rare in American children, but an increasing number of children are developing the disease. + +Also, overweight children are more likely to become overweight or obese as adults, with the same disease risks.",NHLBI,Overweight and Obesity +Who is at risk for Overweight and Obesity? ?,"Overweight and obesity affect Americans of all ages, sexes, and racial/ethnic groups. This serious health problem has been growing over the last 30 years. + +Adults + +According to the National Health and Nutrition Examination Survey (NHANES) 20092010, almost 70 percent of Americans are overweight or obese. The survey also shows differences in overweight and obesity among racial/ethnic groups. + +In women, overweight and obesity are highest among non-Hispanic Black women (about 82percent), compared with about 76 percent for Hispanic women and 64 percent for non-Hispanic White women. + +In men, overweight and obesity are highest among Hispanic men (about 82percent), compared with about 74 percent for non-Hispanic White men and about 70 percent for non-Hispanic Black men. + +Children and Teens + +Children also have become heavier. In the past 30 years, obesity has tripled among school-aged children and teens. + +According to NHANES 20092010, about 1 in 6 American children ages 219 are obese. The survey also suggests that overweight and obesity are having a greater effect on minority groups, including Blacks and Hispanics.",NHLBI,Overweight and Obesity +What are the symptoms of Overweight and Obesity ?,"Weight gain usually happens over time. Most people know when they've gained weight. Some of the signs of overweight or obesity include: + +Clothes feeling tight and needing a larger size. + +The scale showing that you've gained weight. + +Having extra fat around the waist. + +A higher than normal body mass index and waist circumference. (For more information, go to ""How Are Overweight and Obesity Diagnosed?"")",NHLBI,Overweight and Obesity +How to diagnose Overweight and Obesity ?,"The most common way to find out whether you're overweight or obese is to figure out your body mass index (BMI). BMI is an estimate of body fat, and it's a good gauge of your risk for diseases that occur with more body fat. + +BMI is calculated from your height and weight. You can use the chart below or the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI. Or, you health care provider can measure your BMI. + +Body Mass Index for Adults + +Use this table to learn your BMI. First, find your height on the far left column. Next, move across the row to find your weight. Weight is measured with underwear but no shoes. + +Once you've found your weight, move to the very top of that column. This number is your BMI. + +This table offers a sample of BMI measurements. If you don't see your height and/or weight listed on this table, go the NHLBI's complete Body Mass Index Table. + +What Does Body Mass Index Mean? + +Although BMI can be used for most men and women, it does have some limits. It may overestimate body fat in athletes and others who have a muscular build. BMI also may underestimate body fat in older people and others who have lost muscle. + +Body Mass Index for Children and Teens + +Overweight are obesity are defined differently for children and teens than for adults. Children are still growing, and boys and girls mature at different rates. + +BMIs for children and teens compare their heights and weights against growth charts that take age and sex into account. This is called BMI-for-age percentile. A child or teen's BMI-for-age percentile shows how his or her BMI compares with other boys and girls of the same age. + +For more information about BMI-for-age and growth charts for children, go to the Centers for Disease Control and Prevention's BMI-for-age calculator. + +What Does the BMI-for-Age Percentile Mean? + +Waist Circumference + +Health care professionals also may take your waist measurement. This helps screen for the possible health risks related to overweight and obesity in adults. + +If you have abdominal obesity and most of your fat is around your waist rather than at your hips, you're at increased risk for coronary heart disease and type 2 diabetes. The risk goes up with a waist size that's greater than 35 inches for women or greater than 40inches for men. + +You also can measure your waist size. To do so correctly, stand and place a tape measure around your middle, just above your hipbones. Measure your waist just after you breathe out. + +Specialists Involved + +A primary care doctor (or pediatrician for children and teens) will assess your BMI, waist measurement, and overall health risk. If you're overweight or obese, or if you have a large waist size, your doctor should explain the health risks and find out whether you're interested and willing to lose weight. + +If you are, you and your doctor can work together to create a treatment plan. The plan may include weight-loss goals and treatment options that are realistic for you. + +Your doctor may send you to other health care specialists if you need expert care. These specialists may include: + +An endocrinologist if you need to be treated for type 2 diabetes or a hormone problem, such as an underactive thyroid. + +A registered dietitian or nutritionist to work with you on ways to change your eating habits. + +An exercise physiologist or trainer to figure out your level of fitness and show you how to do physical activities suitable for you. + +A bariatric surgeon if weight-loss surgery is an option for you. + +A psychiatrist, psychologist, or clinical social worker to help treat depression or stress.",NHLBI,Overweight and Obesity +What are the treatments for Overweight and Obesity ?,"Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough. + +Set Realistic Goals + +Setting realistic weight-loss goals is an important first step to losing weight. + +For Adults + +Try to lose 5 to 10 percent of your current weight over 6 months. This will lower your risk for coronary heart disease (CHD) and other conditions. + +The best way to lose weight is slowly. A weight loss of 1 to 2 pounds a week is do-able, safe, and will help you keep off the weight. It also will give you the time to make new, healthy lifestyle changes. + +If you've lost 10 percent of your body weight, have kept it off for 6 months, and are still overweight or obese, you may want to consider further weight loss. + +For Children and Teens + +If your child is overweight or at risk for overweight or obesity, the goal is to maintain his or her current weight and to focus on eating healthy and being physically active. This should be part of a family effort to make lifestyle changes. + +If your child is overweight or obese and has a health condition related to overweight or obesity, your doctor may refer you to a pediatric obesity treatment center. + +Lifestyle Changes + +Lifestyle changes can help you and your family achieve long-term weight-loss success. Example of lifestyle changes include: + +Focusing on balancing energy IN (calories from food and drinks) with energy OUT (physical activity) + +Following a healthy eating plan + +Learning how to adopt healthy lifestyle habits + +Over time, these changes will become part of your everyday life. + +Calories + +Cutting back on calories (energy IN) will help you lose weight. To lose 1 to 2pounds a week, adults should cut back their calorie intake by 500 to 1,000calories a day. + +In general, having 1,000 to 1,200 calories a day will help most women lose weight safely. + +In general, having 1,200 to 1,600 calories a day will help most men lose weight safely. This calorie range also is suitable for women who weigh 165pounds or more or who exercise routinely. + +These calorie levels are a guide and may need to be adjusted. If you eat 1,600calories a day but don't lose weight, then you may want to cut back to 1,200calories. If you're hungry on either diet, then you may want to add 100 to 200calories a day. + +Very low-calorie diets with fewer than 800 calories a day shouldn't be used unless your doctor is monitoring you. + +For overweight children and teens, it's important to slow the rate of weight gain. However, reduced-calorie diets aren't advised unless you talk with a health care provider. + +Healthy Eating Plan + +A healthy eating plan gives your body the nutrients it needs every day. It has enough calories for good health, but not so many that you gain weight. + +A healthy eating plan is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. Following a healthy eating plan will lower your risk for heart disease and other conditions. + +Healthy foods include: + +Fat-free and low-fat dairy products, such as low-fat yogurt, cheese, and milk. + +Protein foods, such as lean meat, fish, poultry without skin, beans, and peas. + +Whole-grain foods, such as whole-wheat bread, oatmeal, and brown rice. Other grain foods include pasta, cereal, bagels, bread, tortillas, couscous, and crackers. + +Fruits, which can be fresh, canned, frozen, or dried. + +Vegetables, which can be fresh, canned (without salt), frozen, or dried. + +Canola and olive oils, and soft margarines made from these oils, are heart healthy. However, you should use them in small amounts because they're high in calories. + +You also can include unsalted nuts, like walnuts and almonds, in your diet as long as you limit the amount you eat (nuts also are high in calories). + +The National Heart, Lung, and Blood Institute's ""Aim for a Healthy Weight"" patient booklet provides more information about following a healthy eating plan. + +Foods to limit. Foods that are high in saturated and trans fats and cholesterol raise blood cholesterol levels and also might be high in calories. Fats and cholesterol raise your risk for heart disease, so they should be limited. + +Saturated fat is found mainly in: + +Fatty cuts of meat, such as ground beef, sausage, and processed meats (for example, bologna, hot dogs, and deli meats) + +Poultry with the skin + +High-fat dairy products like whole-milk cheeses, whole milk, cream, butter, and ice cream + +Lard, coconut, and palm oils, which are found in many processed foods + +Trans fat is found mainly in: + +Foods with partially hydrogenated oils, such as many hard margarines and shortening + +Baked products and snack foods, such as crackers, cookies, doughnuts, and breads + +Foods fried in hydrogenated shortening, such as french fries and chicken + +Cholesterol mainly is found in: + +Egg yolks + +Organ meats, such as liver + +Shrimp + +Whole milk or whole-milk products, such as butter, cream, and cheese + +Limiting foods and drinks with added sugars, like high-fructose corn syrup, is important. Added sugars will give you extra calories without nutrients like vitamins and minerals. Added sugars are found in many desserts, canned fruit packed in syrup, fruit drinks, and nondiet drinks. + +Check the list of ingredients on food packages for added sugars like high-fructose corn syrup. Drinks that contain alcohol also will add calories, so it's a good idea to limit your alcohol intake. + +Portion size. A portion is the amount of food that you choose to eat for a meal or snack. It's different from a serving, which is a measured amount of food and is noted on the Nutrition Facts label on food packages. + +Anyone who has eaten out lately is likely to notice how big the portions are. In fact, over the past 40 years, portion sizes have grown significantly. These growing portion sizes have changed what we think of as a normal portion. + +Cutting back on portion size is a good way to eat fewer calories and balance your energy IN. + +Food weight. Studies have shown that we all tend to eat a constant ""weight"" of food. Ounce for ounce, our food intake is fairly consistent. Knowing this, you can lose weight if you eat foods that are lower in calories and fat for a given amount of food. + +For example, replacing a full-fat food product that weighs 2 ounces with a low-fat product that weighs the same helps you cut back on calories. Another helpful practice is to eat foods that contain a lot of water, such as vegetables, fruits, and soups. + +Physical Activity + +Being physically active and eating fewer calories will help you lose weight and keep weight off over time. Physical activity also will benefit you in other ways. It will: + +Lower your risk for heart disease, heart attack, diabetes, and cancers (such as breast, uterine, and colon cancers) + +Strengthen your heart and help your lungs work better + +Strengthen your muscles and keep your joints in good condition + +Slow bone loss + +Give you more energy + +Help you relax and better cope with stress + +Allow you to fall asleep more quickly and sleep more soundly + +Give you an enjoyable way to share time with friends and family + +The four main types of physical activity are aerobic, muscle-strengthening, bone strengthening, and stretching. You can do physical activity with light, moderate, or vigorous intensity. The level of intensity depends on how hard you have to work to do the activity. + +People vary in the amount of physical activity they need to control their weight. Many people can maintain their weight by doing 150 to 300 minutes (2 hours and 30 minutes to 5 hours) of moderate-intensity activity per week, such as brisk walking. + +People who want to lose a large amount of weight (more than 5 percent of their body weight) may need to do more than 300 minutes of moderate-intensity activity per week. This also may be true for people who want to keep off weight that they've lost. + +You don't have to do the activity all at once. You can break it up into short periods of at least 10 minutes each. + +If you have a heart problem or chronic disease, such as heart disease, diabetes, or high blood pressure, talk with your doctor about what types of physical activity are safe for you. You also should talk with your doctor about safe physical activities if you have symptoms such as chest pain or dizziness. + +Children should get at least 60 minutes or more of physical activity every day. Most physical activity should be moderate-intensity aerobic activity. Activity should vary and be a good fit for the child's age and physical development. + +Many people lead inactive lives and might not be motivated to do more physical activity. When starting a physical activity program, some people may need help and supervision to avoid injury. + +If you're obese, or if you haven't been active in the past, start physical activity slowly and build up the intensity a little at a time. + +When starting out, one way to be active is to do more everyday activities, such as taking the stairs instead of the elevator and doing household chores and yard work. The next step is to start walking, biking, or swimming at a slow pace, and then build up the amount of time you exercise or the intensity level of the activity. + +To lose weight and gain better health, it's important to get moderate-intensity physical activity. Choose activities that you enjoy and that fit into your daily life. + +A daily, brisk walk is an easy way to be more active and improve your health. Use a pedometer to count your daily steps and keep track of how much you're walking. Try to increase the number of steps you take each day. Other examples of moderate-intensity physical activity include dancing, gardening, and water aerobics. + +For greater health benefits, try to step up your level of activity or the length of time you're active. For example, start walking for 10 to 15 minutes three times a week, and then build up to brisk walking for 60 minutes, 5 days a week. + +For more information about physical activity, go to the Department of Health and Human Services ""2008 Physical Activity Guidelines for Americans"" and the Health Topics Physical Activity and Your Heart article. + +Behavioral Changes + +Changing your behaviors or habits related to food and physical activity is important for losing weight. The first step is to understand which habits lead you to overeat or have an inactive lifestyle. The next step is to change these habits. + +Below are some simple tips to help you adopt healthier habits. + +Change your surroundings. You might be more likely to overeat when watching TV, when treats are available at work, or when you're with a certain friend. You also might find it hard to motivate yourself to be physically active. However, you can change these habits. + +Instead of watching TV, dance to music in your living room or go for a walk. + +Leave the office break room right after you get a cup of coffee. + +Bring a change of clothes to work. Head straight to an exercise class on the way home from work. + +Put a note on your calendar to remind yourself to take a walk or go to your exercise class. + +Keep a record. A record of your food intake and the amount of physical activity that you do each day will help inspire you. You also can keep track of your weight. For example, when the record shows that you've been meeting your physical activity goals, you'll want to keep it up. A record also is an easy way to track how you're doing, especially if you're working with a registered dietitian or nutritionist. + +Seek support. Ask for help or encouragement from your friends, family, and health care provider. You can get support in person, through e-mail, or by talking on the phone. You also can join a support group. + +Reward success. Reward your success for meeting your weight-loss goals or other achievements with something you would like to do, not with food. Choose rewards that you'll enjoy, such as a movie, music CD, an afternoon off from work, a massage, or personal time. + +Weight-Loss Medicines + +Weight-loss medicines approved by the Food and Drug Administration (FDA) might be an option for some people. + +If you're not successful at losing 1 pound a week after 6months of using lifestyle changes, medicines may help. You should only use medicines as part of a program that includes diet, physical activity, and behavioral changes. + +Weight-loss medicines might be suitable for adults who are obese (a BMI of 30 or greater). People who have BMIs of 27 or greater, and who are at risk for heart disease and other health conditions, also may benefit from weight-loss medicines. + +Sibutramine (Meridia) + +As of October 2010, the weight-loss medicine sibutramine (Meridia) was taken off the market in the United States. Research showed that the medicine may raise the risk of heart attack and stroke. + +Orlistat (Xenical and Alli) + +Orlistat (Xenical) causes a weight loss between 5 and 10 pounds, although some people lose more weight. Most of the weight loss occurs within the first 6 months of taking the medicine. + +People taking Xenical need regular checkups with their doctors, especially during the first year of taking the medicine. During checkups, your doctor will check your weight, blood pressure, and pulse and may recommend other tests. He or she also will talk with you about any medicine side effects and answer your questions. + +The FDA also has approved Alli, an over-the-counter (OTC) weight-loss aid for adults. Alli is the lower dose form of orlistat. Alli is meant to be used along with a reduced-calorie, low-fat diet and physical activity. In studies, most people taking Alli lost 5 to 10pounds over 6 months. + +Both Xenical and Alli reduce the absorption of fats, fat calories, and vitamins A, D, E, and K to promote weight loss. Both medicines also can cause mild side effects, such as oily and loose stools. + +Although rare, some reports of liver disease have occurred with the use of orlistat. More research is needed to find out whether the medicine plays a role in causing liver disease. Talk with your doctor if youre considering using Xenical or Alli to lose weight. He or she can discuss the risks and benefits with you. + +You also should talk with your doctor before starting orlistat if youre taking blood-thinning medicines or being treated for diabetes or thyroid disease. Also, ask your doctor whether you should take a multivitamin due to the possible loss of some vitamins. + +Lorcaserin Hydrochloride (Belviq) and Qsymia + +In July 2012, the FDA approved two new medicines for chronic (ongoing) weight management. Lorcaserin hydrochloride (Belviq) and Qsymia are approved for adults who have a BMI of 30 or greater. (Qsymia is a combination of two FDA-approved medicines: phentermine and topiramate.) + +These medicines also are approved for adults with a BMI of 27 or greater who have at least one weight-related condition, such as high blood pressure, type 2 diabetes, or high blood cholesterol. + +Both medicines are meant to be used along with a reduced-calorie diet and physical activity. + +Other Medicines + +Some prescription medicines are used for weight loss, but aren't FDA-approved for treating obesity. They include: + +Medicines to treat depression. Some medicines for depression cause an initial weight loss and then a regain of weight while taking the medicine. + +Medicines to treat seizures. Two medicines used for seizures, topiramate and zonisamide, have been shown to cause weight loss. These medicines are being studied to see whether they will be useful in treating obesity. + +Medicines to treat diabetes. Metformin may cause small amounts of weight loss in people who have obesity and diabetes. It's not known how this medicine causes weight loss, but it has been shown to reduce hunger and food intake. + +Over-the-Counter Products + +Some OTC products claim to promote weight loss. The FDA doesn't regulate these products because they're considered dietary supplements, not medicines. + +However, many of these products have serious side effects and generally aren't recommended. Some of these OTC products include: + +Ephedra (also called ma huang). Ephedra comes from plants and has been sold as a dietary supplement. The active ingredient in the plant is called ephedrine. Ephedra can cause short-term weight loss, but it also has serious side effects. It causes high blood pressure and stresses the heart. In 2004, the FDA banned the sale of dietary supplements containing ephedra in the United States. + +Chromium. This is a mineral that's sold as a dietary supplement to reduce body fat. While studies haven't found any weight-loss benefit from chromium, there are few serious side effects from taking it. + +Diuretics and herbal laxatives. These products cause you to lose water weight, not fat. They also can lower your body's potassium levels, which may cause heart and muscle problems. + +Hoodia. Hoodia is a cactus that's native to Africa. It's sold in pill form as an appetite suppressant. However, no firm evidence shows that hoodia works. No large-scale research has been done on humans to show whether hoodia is effective or safe. + +Weight-Loss Surgery + +Weight-loss surgery might be an option for people who have extreme obesity (BMI of 40 or more) when other treatments have failed. + +Weight-loss surgery also is an option for people who have a BMI of 35 or more and life-threatening conditions, such as: + +Severe sleep apnea (a condition in which you have one or more pauses in breathing or shallow breaths while you sleep) + +Obesity-related cardiomyopathy (KAR-de-o-mi-OP-ah-thee; diseases of the heart muscle) + +Severe type 2 diabetes + +Types of Weight-Loss Surgery + +Two common weight-loss surgeries include banded gastroplasty and Roux-en-Y gastric bypass. For gastroplasty, a band or staples are used to create a small pouch at the top of your stomach. This surgery limits the amount of food and liquids the stomach can hold. + +For gastric bypass, a small stomach pouch is created with a bypass around part of the small intestine where most of the calories you eat are absorbed. This surgery limits food intake and reduces the calories your body absorbs. + +Weight-loss surgery can improve your health and weight. However, the surgery can be risky, depending on your overall health. Gastroplasty has few long-term side effects, but you must limit your food intake dramatically. + +Gastric bypass has more side effects. They include nausea (feeling sick to your stomach), bloating, diarrhea, and faintness. These side effects are all part of a condition called dumping syndrome. After gastric bypass, you may need multivitamins and minerals to prevent nutrient deficiencies. + +Lifelong medical followup is needed after both surgeries. Your doctor also may recommend a program both before and after surgery to help you with diet, physical activity, and coping skills. + +If you think you would benefit from weight-loss surgery, talk with your doctor. Ask whether you're a candidate for the surgery and discuss the risks, benefits, and what to expect. + +Weight-Loss Maintenance + +Maintaining your weight loss over time can be a challenge. For adults, weight loss is a success if you lose at least 10 percent of your initial weight and you don't regain more than 6 or 7 pounds in 2 years. You also must keep a lower waist circumference (at least 2 inches lower than your waist circumference before you lost weight). + +After 6 months of keeping off the weight, you can think about losing more if: + +You've already lost 5 to 10 percent of your body weight + +You're still overweight or obese + +The key to losing more weight or maintaining your weight loss is to continue with lifestyle changes. Adopt these changes as a new way of life. + +If you want to lose more weight, you may need to eat fewer calories and increase your activity level. For example, if you eat 1,600 calories a day but don't lose weight, you may want to cut back to 1,200 calories. It's also important to make physical activity part of your normal daily routine.",NHLBI,Overweight and Obesity +How to prevent Overweight and Obesity ?,"Following a healthy lifestyle can help you prevent overweight and obesity. Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make healthy choices, such as following a healthy diet and being physically active. + +Make following a healthy lifestyle a family goal. For example: + +Follow a healthy eating plan. Make healthy food choices, keep your calorie needs and your family's calorie needs in mind, and focus on the balance of energy IN and energy OUT. + +Focus on portion size. Watch the portion sizes in fast food and other restaurants. The portions served often are enough for two or three people. Children's portion sizes should be smaller than those for adults. Cutting back on portion size will help you balance energy IN and energy OUT. + +Be active. Make personal and family time active. Find activities that everyone will enjoy. For example, go for a brisk walk, bike or rollerblade, or train together for a walk or run. + +Reduce screen time. Limit the use of TVs, computers, DVDs, and videogames because they limit time for physical activity. Health experts recommend 2hours or less a day of screen time that's not work- or homework-related. + +Keep track of your weight, body mass index, and waist circumference. Also, keep track of your children's growth. + +Led by the National Heart, Lung, and Blood Institute, four Institutes from the National Institutes of Health have come together to promote We Can!Ways to Enhance Children's Activity & Nutrition. + +We Can! is a national education program designed for parents and caregivers to help children 8 to 13 years old maintain a healthy weight. The evidence-based program offers parents and families tips and fun activities to encourage healthy eating, increase physical activity, and reduce time spent being inactive. + +Currently, more than 140 community groups around the country are participating in We Can! programs for parents and youth. These community groups include hospitals, health departments, clinics, faith-based organizations, YMCAs, schools, and more. + +____________ + +We Can! is a registered trademark of the U.S. Department of Health and Human Services.",NHLBI,Overweight and Obesity +What is (are) Iron-Deficiency Anemia ?,"Espaol + +Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food. + +Overview + +Iron-deficiency anemia is a common type of anemia. The term ""anemia"" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide (a waste product) from your body. + +Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen from the lungs to the rest of the body. + +Iron-deficiency anemia usually develops over time if your body doesn't have enough iron to build healthy red blood cells. Without enough iron, your body starts using the iron it has stored. Soon, the stored iron gets used up. + +After the stored iron is gone, your body makes fewer red blood cells. The red blood cells it does make have less hemoglobin than normal. + +Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. + +Infants and young children and women are the two groups at highest risk for iron-deficiency anemia. + +Outlook + +Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of the condition. Treatments may include dietary changes, medicines, and surgery. + +Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions, iron injections, or intravenous iron therapy.",NHLBI,Iron-Deficiency Anemia +What causes Iron-Deficiency Anemia ?,"Not having enough iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, poor diet, or an inability to absorb enough iron from food. + +Blood Loss + +When you lose blood, you lose iron. If you don't have enough iron stored in your body to make up for the lost iron, you'll develop iron-deficiency anemia. + +In women, long or heavy menstrual periods or bleeding fibroids in the uterus may cause low iron levels. Blood loss that occurs during childbirth is another cause of low iron levels in women. + +Internal bleeding (bleeding inside the body) also may lead to iron-deficiency anemia. This type of blood loss isn't always obvious, and it may occur slowly. Some causes of internal bleeding are: + +A bleeding ulcer, colon polyp, or colon cancer + +Regular use of aspirin or other pain medicines, such as nonsteroidal anti-inflammatory drugs (for example, ibuprofen and naproxen) + +Urinary tract bleeding + +Blood loss from severe injuries, surgery, or frequent blood drawings also can cause iron-deficiency anemia. + +Poor Diet + +The best sources of iron are meat, poultry, fish, and iron-fortified foods (foods that have iron added). If you don't eat these foods regularly, or if you don't take an iron supplement, you're more likely to develop iron-deficiency anemia. + +Vegetarian diets can provide enough iron if you eat the right foods. For example, good nonmeat sources of iron include iron-fortified breads and cereals, beans, tofu, dried fruits, and spinach and other dark green leafy vegetables. + +During some stages of life, such as pregnancy and childhood, it may be hard to get enough iron in your diet. This is because your need for iron increases during these times of growth and development. + +Inability To Absorb Enough Iron + +Even if you have enough iron in your diet, your body may not be able to absorb it. This can happen if you have intestinal surgery (such as gastric bypass) or a disease of the intestine (such as Crohn's disease or celiac disease). + +Prescription medicines that reduce acid in the stomach also can interfere with iron absorption.",NHLBI,Iron-Deficiency Anemia +Who is at risk for Iron-Deficiency Anemia? ?,"Infants and Young Children + +Infants and young children need a lot of iron to grow and develop. The iron that full-term infants have stored in their bodies is used up in the first 4 to 6 months of life. + +Premature and low-birth-weight babies (weighing less than 5.5 pounds) are at even greater risk for iron-deficiency anemia. These babies don't have as much iron stored in their bodies as larger, full-term infants. + +Iron-fortified baby food or iron supplements, when used properly, can help prevent iron-deficiency anemia in infants and young children. Talk with your child's doctor about your child's diet. + +Young children who drink a lot of cow's milk may be at risk for iron-deficiency anemia. Milk is low in iron, and too much milk may take the place of iron-rich foods in the diet. Too much milk also may prevent children's bodies from absorbing iron from other foods. + +Children who have lead in their blood also may be at risk for iron-deficiency anemia. Lead can interfere with the body's ability to make hemoglobin. Lead may get into the body from breathing in lead dust, eating lead in paint or soil, or drinking water that contains lead. + +Teens + +Teens are at risk for iron-deficiency anemia if they're underweight or have chronic (ongoing) illnesses. Teenage girls who have heavy periods also are at increased risk for the condition. + +Women + +Women of childbearing age are at higher risk for iron-deficiency anemia because of blood loss during their monthly periods. About 1 in 5 women of childbearing age has iron-deficiency anemia. + +Pregnant women also are at higher risk for the condition because they need twice as much iron as usual. The extra iron is needed for increased blood volume and for the fetus' growth. + +About half of all pregnant women develop iron-deficiency anemia. The condition can increase a pregnant woman's risk for a premature or low-birth-weight baby. + +Adults Who Have Internal Bleeding + +Adults who have internal bleeding, such as intestinal bleeding, can develop iron-deficiency anemia due to blood loss. Certain conditions, such as colon cancer and bleeding ulcers, can cause blood loss. Some medicines, such as aspirin, also can cause internal bleeding. + +Other At-Risk Groups + +People who get kidney dialysis treatment may develop iron-deficiency anemia. This is because blood is lost during dialysis. Also, the kidneys are no longer able to make enough of a hormone that the body needs to produce red blood cells. + +People who have gastric bypass surgery also may develop iron-deficiency anemia. This type of surgery can prevent the body from absorbing enough iron. + +Certain eating patterns or habits may put you at higher risk for iron-deficiency anemia. This can happen if you: + +Follow a diet that excludes meat and fish, which are the best sources of iron. However, vegetarian diets can provide enough iron if you eat the right foods. For example, good nonmeat sources of iron include iron-fortified breads and cereals, beans, tofu, dried fruits, and spinach and other dark green leafy vegetables. + +Eat poorly because of money, social, health, or other problems. + +Follow a very low-fat diet over a long time. Some higher fat foods, like meat, are the best sources of iron. + +Follow a high-fiber diet. Large amounts of fiber can slow the absorption of iron.",NHLBI,Iron-Deficiency Anemia +What are the symptoms of Iron-Deficiency Anemia ?,"The signs and symptoms of iron-deficiency anemia depend on its severity. Mild to moderate iron-deficiency anemia may have no signs or symptoms. + +When signs and symptoms do occur, they can range from mild to severe. Many of the signs and symptoms of iron-deficiency anemia apply to all types of anemia. + +Signs and Symptoms of Anemia + +The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its many parts. + +Also, the red blood cells your body makes have less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It helps red blood cells carry oxygen from the lungs to the rest of the body. + +Anemia also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale skin, chest pain, weakness, and fatigue (tiredness). + +If you don't have enough hemoglobin-carrying red blood cells, your heart has to work harder to move oxygen-rich blood through your body. This can lead to irregular heartbeats called arrhythmias (ah-RITH-me-ahs), a heart murmur, an enlarged heart, or even heart failure. + +In infants and young children, signs of anemia include poor appetite, slowed growth and development, and behavioral problems. + +Signs and Symptoms of Iron Deficiency + +Signs and symptoms of iron deficiency may include brittle nails, swelling or soreness of the tongue, cracks in the sides of the mouth, an enlarged spleen, and frequent infections. + +People who have iron-deficiency anemia may have an unusual craving for nonfood items, such as ice, dirt, paint, or starch. This craving is called pica (PI-ka or PE-ka). + +Some people who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a strong urge to move the legs. This urge to move often occurs with strange and unpleasant feelings in the legs. People who have RLS often have a hard time sleeping. + +Iron-deficiency anemia can put children at greater risk for lead poisoning and infections. + +Some signs and symptoms of iron-deficiency anemia are related to the condition's causes. For example, a sign of intestinal bleeding is bright red blood in the stools or black, tarry-looking stools. + +Very heavy menstrual bleeding, long periods, or other vaginal bleeding may suggest that a woman is at risk for iron-deficiency anemia.",NHLBI,Iron-Deficiency Anemia +How to diagnose Iron-Deficiency Anemia ?,"Your doctor will diagnose iron-deficiency anemia based on your medical history, a physical exam, and the results from tests and procedures. + +Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. + +Mild to moderate iron-deficiency anemia may have no signs or symptoms. Thus, you may not know you have it unless your doctor discovers it from a screening test or while checking for other problems. + +Specialists Involved + +Primary care doctors often diagnose and treat iron-deficiency anemia. These doctors include pediatricians, family doctors, gynecologists/obstetricians, and internal medicine specialists. + +A hematologist (a blood disease specialist), a gastroenterologist (a digestive system specialist), and other specialists also may help treat iron-deficiency anemia. + +Medical History + +Your doctor will ask about your signs and symptoms and any past problems you've had with anemia or low iron. He or she also may ask about your diet and whether you're taking any medicines. + +If you're a woman, your doctor may ask whether you might be pregnant. + +Physical Exam + +Your doctor will do a physical exam to look for signs of iron-deficiency anemia. He or she may: + +Look at your skin, gums, and nail beds to see whether they're pale + +Listen to your heart for rapid or irregular heartbeats + +Listen to your lungs for rapid or uneven breathing + +Feel your abdomen to check the size of your liver and spleen + +Do a pelvic and rectal exam to check for internal bleeding + +Diagnostic Tests and Procedures + +Many tests and procedures are used to diagnose iron-deficiency anemia. They can help confirm a diagnosis, look for a cause, and find out how severe the condition is. + +Complete Blood Count + +Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. + +This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. + +The normal range of these levels varies in certain racial and ethnic populations. Your doctor can explain your test results to you. + +The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of infection, a blood disorder, or another condition. + +Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. In iron-deficiency anemia, for example, red blood cells usually are smaller than normal. + +Other Blood Tests + +If the CBC results confirm you have anemia, you may need other blood tests to find out what's causing the condition, how severe it is, and the best way to treat it. + +Reticulocyte count. This test measures the number of reticulocytes (re-TIK-u-lo-sites) in your blood. Reticulocytes are young, immature red blood cells. Over time, reticulocytes become mature red blood cells that carry oxygen throughout your body. + +A reticulocyte count shows whether your bone marrow is making red blood cells at the correct rate. + +Peripheral smear. For this test, a sample of your blood is examined under a microscope. If you have iron-deficiency anemia, your red blood cells will look smaller and paler than normal. + +Tests to measure iron levels. These tests can show how much iron has been used from your body's stored iron. Tests to measure iron levels include: + +Serum iron. This test measures the amount of iron in your blood. The level of iron in your blood may be normal even if the total amount of iron in your body is low. For this reason, other iron tests also are done. + +Serum ferritin. Ferritin is a protein that helps store iron in your body. A measure of this protein helps your doctor find out how much of your body's stored iron has been used. + +Transferrin level, or total iron-binding capacity. Transferrin is a protein that carries iron in your blood. Total iron-binding capacity measures how much of the transferrin in your blood isn't carrying iron. If you have iron-deficiency anemia, you'll have a high level of transferrin that has no iron. + +Other tests. Your doctor also may recommend tests to check your hormone levels, especially your thyroid hormone. You also may have a blood test for a chemical called erythrocyte protoporphyrin. This chemical is a building block for hemoglobin. + +Children also may be tested for the level of lead in their blood. Lead can make it hard for the body to produce hemoglobin. + +Tests and Procedures for Gastrointestinal Blood Loss + +To check whether internal bleeding is causing your iron-deficiency anemia, your doctor may suggest a fecal occult blood test. This test looks for blood in the stools and can detect bleeding in the intestines. + +If the test finds blood, you may have other tests and procedures to find the exact spot of the bleeding. These tests and procedures may look for bleeding in the stomach, upper intestines, colon, or pelvic organs.",NHLBI,Iron-Deficiency Anemia +What are the treatments for Iron-Deficiency Anemia ?,"Treatment for iron-deficiency anemia will depend on its cause and severity. Treatments may include dietary changes and supplements, medicines, and surgery. + +Severe iron-deficiency anemia may require a blood transfusion, iron injections, or intravenous (IV) iron therapy. Treatment may need to be done in a hospital. + +The goals of treating iron-deficiency anemia are to treat its underlying cause and restore normal levels of red blood cells, hemoglobin, and iron. + +Dietary Changes and Supplements + +Iron + +You may need iron supplements to build up your iron levels as quickly as possible. Iron supplements can correct low iron levels within months. Supplements come in pill form or in drops for children. + +Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes. Keep iron supplements out of reach from children. This will prevent them from taking an overdose of iron. + +Iron supplements can cause side effects, such as dark stools, stomach irritation, and heartburn. Iron also can cause constipation, so your doctor may suggest that you use a stool softener. + +Your doctor may advise you to eat more foods that are rich in iron. The best source of iron is red meat, especially beef and liver. Chicken, turkey, pork, fish, and shellfish also are good sources of iron. + +The body tends to absorb iron from meat better than iron from nonmeat foods. However, some nonmeat foods also can help you raise your iron levels. Examples of nonmeat foods that are good sources of iron include: + +Iron-fortified breads and cereals + +Peas; lentils; white, red, and baked beans; soybeans; and chickpeas + +Tofu + +Dried fruits, such as prunes, raisins, and apricots + +Spinach and other dark green leafy vegetables + +Prune juice + +The Nutrition Facts labels on packaged foods will show how much iron the items contain. The amount is given as a percentage of the total amount of iron you need every day. + +Vitamin C + +Vitamin C helps the body absorb iron. Good sources of vitamin C are vegetables and fruits, especially citrus fruits. Citrus fruits include oranges, grapefruits, tangerines, and similar fruits. Fresh and frozen fruits, vegetables, and juices usually have more vitamin C than canned ones. + +If you're taking medicines, ask your doctor or pharmacist whether you can eat grapefruit or drink grapefruit juice. Grapefruit can affect the strength of a few medicines and how well they work. + +Other fruits rich in vitamin C include kiwi fruit, strawberries, and cantaloupes. + +Vegetables rich in vitamin C include broccoli, peppers, Brussels sprouts, tomatoes, cabbage, potatoes, and leafy green vegetables like turnip greens and spinach. + +Treatment To Stop Bleeding + +If blood loss is causing iron-deficiency anemia, treatment will depend on the cause of the bleeding. For example, if you have a bleeding ulcer, your doctor may prescribe antibiotics and other medicines to treat the ulcer. + +If a polyp or cancerous tumor in your intestine is causing bleeding, you may need surgery to remove the growth. + +If you have heavy menstrual flow, your doctor may prescribe birth control pills to help reduce your monthly blood flow. In some cases, surgery may be advised. + +Treatments for Severe Iron-Deficiency Anemia + +Blood Transfusion + +If your iron-deficiency anemia is severe, you may get a transfusion of red blood cells. A blood transfusion is a safe, common procedure in which blood is given to you through an IV line in one of your blood vessels. A transfusion requires careful matching of donated blood with the recipient's blood. + +A transfusion of red blood cells will treat your anemia right away. The red blood cells also give a source of iron that your body can reuse. However, a blood transfusion is only a short-term treatment. Your doctor will need to find and treat the cause of your anemia. + +Blood transfusions are usually reserved for people whose anemia puts them at a higher risk for heart problems or other severe health issues. + +For more information, go to the Health Topics Blood Transfusion article. + +Iron Therapy + +If you have severe anemia, your doctor may recommend iron therapy. For this treatment, iron is injected into a muscle or an IV line in one of your blood vessels. + +IV iron therapy presents some safety concerns. It must be done in a hospital or clinic by experienced staff. Iron therapy usually is given to people who need iron long-term but can't take iron supplements by mouth. This therapy also is given to people who need immediate treatment for iron-deficiency anemia.",NHLBI,Iron-Deficiency Anemia +How to prevent Iron-Deficiency Anemia ?,"Eating a well-balanced diet that includes iron-rich foods may help you prevent iron-deficiency anemia. + +Taking iron supplements also may lower your risk for the condition if you're not able to get enough iron from food. Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes. + +For more information about diet and supplements, go to ""How Is Iron-Deficiency Anemia Treated?"" + +Infants and young children and women are the two groups at highest risk for iron-deficiency anemia. Special measures can help prevent the condition in these groups. + +Infants and Young Children + +A baby's diet can affect his or her risk for iron-deficiency anemia. For example, cow's milk is low in iron. For this and other reasons, cow's milk isn't recommended for babies in their first year. After the first year, you may need to limit the amount of cow's milk your baby drinks. + +Also, babies need more iron as they grow and begin to eat solid foods. Talk with your child's doctor about a healthy diet and food choices that will help your child get enough iron. + +Your child's doctor may recommend iron drops. However, giving a child too much iron can be harmful. Follow the doctor's instructions and keep iron supplements and vitamins away from children. Asking for child-proof packages for supplements can help prevent overdosing in children. + +Because recent research supports concerns that iron deficiency during infancy and childhood can have long-lasting, negative effects on brain health, the American Academy of Pediatrics recommends testing all infants for anemia at 1 year of age. + +Women and Girls + +Women of childbearing age may be tested for iron-deficiency anemia, especially if they have: + +A history of iron-deficiency anemia + +Heavy blood loss during their monthly periods + +Other risk factors for iron-deficiency anemia + +The Centers for Disease Control and Prevention (CDC) has developed guidelines for who should be screened for iron deficiency, and how often: + +Girls aged 12 to 18 and women of childbearing age who are not pregnant: Every 5 to 10 years. + +Women who have risk factors for iron deficiency: Once a year. + +Pregnant women: At the first prenatal visit. + +For pregnant women, medical care during pregnancy usually includes screening for anemia. Also, your doctor may prescribe iron supplements or advise you to eat more iron-rich foods.This not only will help you avoid iron-deficiency anemia, but also may lower your risk of having a low-birth-weight baby.",NHLBI,Iron-Deficiency Anemia +What is (are) Atrial Fibrillation ?,"Atrial fibrillation (A-tre-al fi-bri-LA-shun), or AF, is the most common type of arrhythmia (ah-RITH-me-ah). An arrhythmia is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. + +AF occurs if rapid, disorganized electrical signals cause the heart's two upper chamberscalled the atria (AY-tree-uh)to fibrillate. The term ""fibrillate"" means to contract very fast and irregularly. + +In AF, blood pools in the atria. It isn't pumped completely into the heart's two lower chambers, called the ventricles (VEN-trih-kuls). As a result, the heart's upper and lower chambers don't work together as they should. + +People who have AF may not feel symptoms. However, even when AF isn't noticed, it can increase the risk of stroke. In some people, AF can cause chest pain or heart failure, especially if the heart rhythm is very rapid. + +AF may happen rarely or every now and then, or it may become an ongoing or long-term heart problem that lasts for years. + +Understanding the Heart's Electrical System + +To understand AF, it helps to understand the heart's internal electrical system. The heart's electrical system controls the rate and rhythm of the heartbeat. + +With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As the signal travels, it causes the heart to contract and pump blood. + +Each electrical signal begins in a group of cells called the sinus node or sinoatrial (SA) node. The SA node is located in the right atrium. In a healthy adult heart at rest, the SA node sends an electrical signal to begin a new heartbeat 60 to 100 times a minute. (This rate may be slower in very fit athletes.) + +From the SA node, the electrical signal travels through the right and left atria. It causes the atria to contract and pump blood into the ventricles. + +The electrical signal then moves down to a group of cells called the atrioventricular (AV) node, located between the atria and the ventricles. Here, the signal slows down slightly, allowing the ventricles time to finish filling with blood. + +The electrical signal then leaves the AV node and travels to the ventricles. It causes the ventricles to contract and pump blood to the lungs and the rest of the body. The ventricles then relax, and the heartbeat process starts all over again in the SA node. + +For more information about the heart's electrical system and detailed animations, go to the Diseases and Conditions Index How the Heart Works article. + +Understanding the Electrical Problem in Atrial Fibrillation + +In AF, the heart's electrical signals don't begin in the SA node. Instead, they begin in another part of the atria or in the nearby pulmonary veins. The signals don't travel normally. They may spread throughout the atria in a rapid, disorganized way. This can cause the atria to fibrillate. + +The faulty signals flood the AV node with electrical impulses. As a result, the ventricles also begin to beat very fast. However, the AV node can't send the signals to the ventricles as fast as they arrive. So, even though the ventricles are beating faster than normal, they aren't beating as fast as the atria. + +Thus, the atria and ventricles no longer beat in a coordinated way. This creates a fast and irregular heart rhythm. In AF, the ventricles may beat 100 to 175 times a minute, in contrast to the normal rate of 60 to 100 beats a minute. + +If this happens, blood isn't pumped into the ventricles as well as it should be. Also, the amount of blood pumped out of the ventricles to the body is based on the random atrial beats. + +The body may get rapid, small amounts of blood and occasional larger amounts of blood. The amount will depend on how much blood has flowed from the atria to the ventricles with each beat. + +Most of the symptoms of AF are related to how fast the heart is beating. If medicines or age slow the heart rate, the symptoms are minimized. + +AF may be brief, with symptoms that come and go and end on their own. Or, the condition may be ongoing and require treatment. Sometimes AF is permanent, and medicines or other treatments can't restore a normal heart rhythm. + +The animation below shows atrial fibrillation. Click the ""start"" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. + + + + + +The animation shows how the heart's electrical signal can begin somewhere other than the sinoatrial node. This causes the atria to beat very fast and irregularly. + +Outlook + +People who have AF can live normal, active lives. For some people, treatment can restore normal heart rhythms. + +For people who have permanent AF, treatment can help control symptoms and prevent complications. Treatment may include medicines, medical procedures, and lifestyle changes.",NHLBI,Atrial Fibrillation +What causes Atrial Fibrillation ?,"Atrial fibrillation (AF) occurs if the heart's electrical signals don't travel through the heart in a normal way. Instead, they become very rapid and disorganized. + +Damage to the heart's electrical system causes AF. The damage most often is the result of other conditions that affect the health of the heart, such as high blood pressure and coronary heart disease. + +The risk of AF increases as you age. Inflammation also is thought to play a role in causing AF. + +Sometimes, the cause of AF is unknown.",NHLBI,Atrial Fibrillation +Who is at risk for Atrial Fibrillation? ?,"Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans. + +The risk of AF increases as you age. This is mostly because your risk for heart disease and other conditions that can cause AF also increases as you age. However, about half of the people who have AF are younger than 75. + +AF is uncommon in children. + +Major Risk Factors + +AF is more common in people who have: + +High blood pressure + +Coronary heart disease (CHD) + +Heart failure + +Rheumatic (ru-MAT-ik) heart disease + +Structural heart defects, such as mitral valve prolapse + +Pericarditis (PER-i-kar-DI-tis; a condition in which the membrane, or sac, around your heart is inflamed) + +Congenital heart defects + +Sick sinus syndrome (a condition in which the heart's electrical signals don't fire properly and the heart rate slows down; sometimes the heart will switch back and forth between a slow rate and a fast rate) + +AF also is more common in people who are having heart attacks or who have just had surgery. + +Other Risk Factors + +Other conditions that raise your risk for AF include hyperthyroidism (too much thyroid hormone), obesity, diabetes, and lung disease. + +Certain factors also can raise your risk for AF. For example, drinking large amounts of alcohol, especially binge drinking, raises your risk. Even modest amounts of alcohol can trigger AF in some people. Caffeine or psychological stress also may trigger AF in some people. + +Some data suggest that people who have sleep apnea are at greater risk for AF. Sleep apnea is a common disorder that causes one or more pauses in breathing or shallow breaths while you sleep. + +Metabolic syndrome also raises your risk for AF. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke. + +Research suggests that people who receive high-dose steroid therapy are at increased risk for AF. This therapy is used for asthma and some inflammatory conditions. It may act as a trigger in people who have other AF risk factors. + +Genetic factors also may play a role in causing AF. However, their role isn't fully known.",NHLBI,Atrial Fibrillation +What are the symptoms of Atrial Fibrillation ?,"Atrial fibrillation (AF) usually causes the heart's lower chambers, the ventricles, to contract faster than normal. + +When this happens, the ventricles can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body. This can lead to signs and symptoms, such as: + +Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast) + +Shortness of breath + +Weakness or problems exercising + +Chest pain + +Dizziness or fainting + +Fatigue (tiredness) + +Confusion + +Atrial Fibrillation Complications + +AF has two major complicationsstroke and heart failure. + +Stroke + +During AF, the heart's upper chambers, the atria, don't pump all of their blood to the ventricles. Some blood pools in the atria. When this happens, a blood clot (also called a thrombus) can form. + +If the clot breaks off and travels to the brain, it can cause a stroke. (A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus.) + +Blood-thinning medicines that reduce the risk of stroke are an important part of treatment for people who have AF. + +Atrial Fibrillation and Stroke + + + +Heart Failure + +Heart failure occurs if the heart can't pump enough blood to meet the body's needs. AF can lead to heart failure because the ventricles are beating very fast and can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body. + +Fatigue and shortness of breath are common symptoms of heart failure. A buildup of fluid in the lungs causes these symptoms. Fluid also can build up in the feet, ankles, and legs, causing weight gain. + +Lifestyle changes, medicines, and procedures or surgery (rarely, a mechanical heart pump or heart transplant) are the main treatments for heart failure.",NHLBI,Atrial Fibrillation +How to diagnose Atrial Fibrillation ?,"Atrial fibrillation (AF) is diagnosed based on your medical and family histories, a physical exam, and the results from tests and procedures. + +Sometimes AF doesn't cause signs or symptoms. Thus, it may be found during a physical exam or EKG (electrocardiogram) test done for another purpose. + +If you have AF, your doctor will want to find out what is causing it. This will help him or her plan the best way to treat the condition. + +Specialists Involved + +Primary care doctors often are involved in the diagnosis and treatment of AF. These doctors include family practitioners and internists. + +Doctors who specialize in the diagnosis and treatment of heart disease also may be involved, such as: + +Cardiologists. These are doctors who diagnose and treat heart diseases and conditions. + +Electrophysiologists. These are cardiologists who specialize in arrhythmias. + +Medical and Family Histories + +Your doctor will likely ask questions about your: + +Signs and symptoms. What symptoms are you having? Have you had palpitations? Are you dizzy or short of breath? Are your feet or ankles swollen (a possible sign of heart failure)? Do you have any chest pain? + +Medical history. Do you have other health problems, such as a history of heart disease, high blood pressure, lung disease, diabetes, or thyroid problems? + +Family's medical history. Does anyone in your family have a history of AF? Has anyone in your family ever had heart disease or high blood pressure? Has anyone had thyroid problems? Does your family have a history of other illnesses or health problems? + +Health habits. Do you smoke or use alcohol or caffeine? + +Physical Exam + +Your doctor will do a complete cardiac exam. He or she will listen to the rate and rhythm of your heartbeat and take your pulse and blood pressure reading. Your doctor will likely check for any signs of heart muscle or heart valve problems. He or she will listen to your lungs to check for signs of heart failure. + +Your doctor also will check for swelling in your legs or feet and look for an enlarged thyroid gland or other signs of hyperthyroidism (too much thyroid hormone). + +Diagnostic Tests and Procedures + +EKG + +An EKG is a simple, painless test that records the heart's electrical activity. It's the most useful test for diagnosing AF. + +An EKG shows how fast your heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through your heart. + +A standard EKG only records the heartbeat for a few seconds. It won't detect AF that doesn't happen during the test. To diagnose paroxysmal AF, your doctor may ask you to wear a portable EKG monitor that can record your heartbeat for longer periods. + +The two most common types of portable EKGs are Holter and event monitors. + +Holter and Event Monitors + +A Holter monitor records the heart's electrical activity for a full 24- or 48-hour period. You wear small patches called electrodes on your chest. Wires connect these patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck. + +You wear the Holter monitor while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG. + +An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. + +For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +You can wear an event monitor for weeks or until symptoms occur. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast. + +Echocardiography + +Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test shows the size and shape of your heart and how well your heart chambers and valves are working. + +Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +This test sometimes is called transthoracic (trans-thor-AS-ik) echocardiography. It's painless and noninvasive (no instruments are inserted into the body). For the test, a device called a transducer is moved back and forth over your chest. The device sends special sound waves through your chest wall to your heart. + +The sound waves bounce off the structures of your heart, and a computer converts them into pictures on a screen. + +Transesophageal Echocardiography + +Transesophageal (trans-e-SOF-ah-ge-al) echo, or TEE, uses sound waves to take pictures of your heart through the esophagus. The esophagus is the passage leading from your mouth to your stomach. + +Your heart's upper chambers, the atria, are deep in your chest. They often can't be seen very well using transthoracic echo. Your doctor can see the atria much better using TEE. + +During this test, the transducer is attached to the end of a flexible tube. The tube is guided down your throat and into your esophagus. You'll likely be given medicine to help you relax during the procedure. + +TEE is used to detect blood clots that may be forming in the atria because of AF. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures in your chest, such as your heart and lungs. This test can show fluid buildup in the lungs and signs of other AF complications. + +Blood Tests + +Blood tests check the level of thyroid hormone in your body and the balance of your body's electrolytes. Electrolytes are minerals that help maintain fluid levels and acid-base balance in the body. They're essential for normal health and functioning of your body's cells and organs.",NHLBI,Atrial Fibrillation +What are the treatments for Atrial Fibrillation ?,"Treatment for atrial fibrillation (AF) depends on how often you have symptoms, how severe they are, and whether you already have heart disease. General treatment options include medicines, medical procedures, and lifestyle changes. + +Goals of Treatment + +The goals of treating AF include: + +Preventing blood clots from forming, thus lowering the risk of stroke. + +Controlling how many times a minute the ventricles contract. This is called rate control. Rate control is important because it allows the ventricles enough time to completely fill with blood. With this approach, the abnormal heart rhythm continues, but you feel better and have fewer symptoms. + +Restoring a normal heart rhythm. This is called rhythm control. Rhythm control allows the atria and ventricles to work together to efficiently pump blood to the body. + +Treating any underlying disorder that's causing or raising the risk of AFfor example, hyperthyroidism (too much thyroid hormone). + +Who Needs Treatment for Atrial Fibrillation? + +People who have AF but don't have symptoms or related heart problems may not need treatment. AF may even go back to a normal heart rhythm on its own. (This also can occur in people who have AF with symptoms.) + +In some people who have AF for the first time, doctors may choose to use an electrical procedure or medicine to restore a normal heart rhythm. + +Repeat episodes of AF tend to cause changes to the heart's electrical system, leading to persistent or permanent AF. Most people who have persistent or permanent AF need treatment to control their heart rate and prevent complications. + +Specific Types of Treatment + +Blood Clot Prevention + +People who have AF are at increased risk for stroke. This is because blood can pool in the heart's upper chambers (the atria), causing a blood clot to form. If the clot breaks off and travels to the brain, it can cause a stroke. + +Preventing blood clots from forming is probably the most important part of treating AF. The benefits of this type of treatment have been proven in multiple studies. + +Doctors prescribe blood-thinning medicines to prevent blood clots. These medicines include warfarin (Coumadin), dabigatran, heparin, and aspirin. + +People taking blood-thinning medicines need regular blood tests to check how well the medicines are working. + +Rate Control + +Doctors can prescribe medicines to slow down the rate at which the ventricles are beating. These medicines help bring the heart rate to a normal level. + +Rate control is the recommended treatment for most patients who have AF, even though an abnormal heart rhythm continues and the heart doesn't work as well as it should. Most people feel better and can function well if their heart rates are well-controlled. + +Medicines used to control the heart rate include beta blockers (for example, metoprolol and atenolol), calcium channel blockers (diltiazem and verapamil), and digitalis (digoxin). Several other medicines also are available. + +Rhythm Control + +Restoring and maintaining a normal heart rhythm is a treatment approach recommended for people who aren't doing well with rate control treatment. This treatment also may be used for people who have only recently started having AF. The long-term benefits of rhythm control have not been proven conclusively yet. + +Doctors use medicines or procedures to control the heart's rhythm. Patients often begin rhythm control treatment in a hospital so that their hearts can be closely watched. + +The longer you have AF, the less likely it is that doctors can restore a normal heart rhythm. This is especially true for people who have had AF for 6 months or more. + +Restoring a normal rhythm also becomes less likely if the atria are enlarged or if any underlying heart disease worsens. In these cases, the chance that AF will recur is high, even if you're taking medicine to help convert AF to a normal rhythm. + +Medicines. Medicines used to control the heart rhythm include amiodarone, sotalol, flecainide, propafenone, dofetilide, and ibutilide. Sometimes older medicinessuch as quinidine, procainamide, and disopyramideare used. + +Your doctor will carefully tailor the dose and type of medicines he or she prescribes to treat your AF. This is because medicines used to treat AF can cause a different kind of arrhythmia. + +These medicines also can harm people who have underlying diseases of the heart or other organs. This is especially true for patients who have an unusual heart rhythm problem called Wolff-Parkinson-White syndrome. + +Your doctor may start you on a small dose of medicine and then gradually increase the dose until your symptoms are controlled. Medicines used for rhythm control can be given regularly by injection at a doctor's office, clinic, or hospital. Or, you may routinely take pills to try to control AF or prevent repeat episodes. + +If your doctor knows how you'll react to a medicine, a specific dose may be prescribed for you to take on an as-needed basis if you have an episode of AF. + +Procedures. Doctors use several procedures to restore a normal heart rhythm. For example, they may use electrical cardioversion to treat a fast or irregular heartbeat. For this procedure, low-energy shocks are given to your heart to trigger a normal rhythm. You're temporarily put to sleep before you receive the shocks. + +Electrical cardioversion isn't the same as the emergency heart shocking procedure often seen on TV programs. It's planned in advance and done under carefully controlled conditions. + +Before doing electrical cardioversion, your doctor may recommend transesophageal echocardiography (TEE). This test can rule out the presence of blood clots in the atria. If clots are present, you may need to take blood-thinning medicines before the procedure. These medicines can help get rid of the clots. + +Catheter ablation (ab-LA-shun) may be used to restore a normal heart rhythm if medicines or electrical cardioversion don't work. For this procedure, a wire is inserted through a vein in the leg or arm and threaded to the heart. + +Radio wave energy is sent through the wire to destroy abnormal tissue that may be disrupting the normal flow of electrical signals. An electrophysiologist usually does this procedure in a hospital. Your doctor may recommend a TEE before catheter ablation to check for blood clots in the atria. + +Sometimes doctors use catheter ablation to destroy the atrioventricular (AV) node. The AV node is where the heart's electrical signals pass from the atria to the ventricles (the heart's lower chambers). This procedure requires your doctor to surgically implant a device called a pacemaker, which helps maintain a normal heart rhythm. + +Research on the benefits of catheter ablation as a treatment for AF is still ongoing. (For more information, go to the ""Clinical Trials"" section of this article.) + +Another procedure to restore a normal heart rhythm is called maze surgery. For this procedure, the surgeon makes small cuts or burns in the atria. These cuts or burns prevent the spread of disorganized electrical signals. + +This procedure requires open-heart surgery, so it's usually done when a person requires heart surgery for other reasons, such as for heart valve disease (which can increase the risk of AF). + +Approaches To Treating Underlying Causes and Reducing Risk Factors + +Your doctor may recommend treatments for an underlying cause of AF or to reduce AF risk factors. For example, he or she may prescribe medicines to treat an overactive thyroid, lower high blood pressure, or manage high blood cholesterol. + +Your doctor also may recommend lifestyle changes, such as following a healthy diet, cutting back on salt intake (to help lower blood pressure), quitting smoking, and reducing stress. + +Limiting or avoiding alcohol, caffeine, or other stimulants that may increase your heart rate also can help reduce your risk for AF.",NHLBI,Atrial Fibrillation +How to prevent Atrial Fibrillation ?,"Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include: + +Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and vegetables daily. + +Not smoking. + +Being physically active. + +Maintaining a healthy weight. + +If you already have heart disease or other AF risk factors, work with your doctor to manage your condition. In addition to adopting the healthy habits above, which can help control heart disease, your doctor may advise you to: + +Follow the DASH eating plan to help lower your blood pressure. + +Keep your cholesterol and triglycerides at healthy levels with dietary changes and medicines (if prescribed). + +Limit or avoid alcohol. + +Control your blood sugar level if you have diabetes. + +Get ongoing medical care and take your medicines as prescribed. + +For more information about following a healthy lifestyle, visit the National Heart, Lung, and Blood Institute's Aim for a Healthy Weight Web site, ""Your Guide to a Healthy Heart,"" ""Your Guide to Lowering Your Blood Pressure With DASH,"" and ""Your Guide to Physical Activity and Your Heart.""",NHLBI,Atrial Fibrillation +What is (are) Tetralogy of Fallot ?,"Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart. + +Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5out of every 10,000 babies. The defect affects boys and girls equally. + +To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart's electrical system works. + +Overview + +Tetralogy of Fallot involves four heart defects: + +A large ventricular septal defect (VSD) + +Pulmonary (PULL-mun-ary) stenosis + +Right ventricular hypertrophy (hi-PER-tro-fe) + +An overriding aorta + +Ventricular Septal Defect + +The heart has an inner wall that separates the two chambers on its left side from the two chambers on its right side. This wall is called a septum. The septum prevents blood from mixing between the two sides of the heart. + +A VSD is a hole in the septum between the heart's two lower chambers, the ventricles. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle. + +Pulmonary Stenosis + +This defect involves narrowing of the pulmonary valve and the passage from the right ventricle to the pulmonary artery. + +Normally, oxygen-poor blood from the right ventricle flows through the pulmonary valve and into the pulmonary artery. From there, the blood travels to the lungs to pick up oxygen. + +In pulmonary stenosis, the pulmonary valve cannot fully open. Thus, the heart has to work harder to pump blood through the valve. As a result, not enough blood reaches the lungs. + +Right Ventricular Hypertrophy + +With this defect, the muscle of the right ventricle is thicker than usual. This occurs because the heart has to work harder than normal to move blood through the narrowed pulmonary valve. + +Overriding Aorta + +This defect occurs in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. In a healthy heart, the aorta is attached to the left ventricle. This allows only oxygen-rich blood to flow to the body. + +In tetralogy of Fallot, the aorta is located between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary artery. + +Outlook + +With tetralogy of Fallot, not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood flows to the body. + +Cross-Section of a Normal Heart and a Heart With Tetralogy of Fallot + + + +Babies and children who have tetralogy of Fallot have episodes of cyanosis (si-ah-NO-sis). Cyanosis is a bluish tint to the skin, lips, and fingernails. It occurs because the oxygen level in the blood leaving the heart is below normal. + +Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The timing of the surgery will depend on how narrow the pulmonary artery is. + +Over the past few decades, the diagnosis and treatment of tetralogy of Fallot have greatly improved. Most children who have this heart defect survive to adulthood. However, they'll need lifelong medical care from specialists to help them stay as healthy as possible.",NHLBI,Tetralogy of Fallot +What causes Tetralogy of Fallot ?,"Doctors often don't know what causes tetralogy of Fallot and other congenital heart defects. + +Some conditions or factors that occur during pregnancy may raise your risk of having a child who has tetralogy of Fallot. These conditions and factors include: + +German measles (rubella) and some other viral illnesses + +Poor nutrition + +Alcohol use + +Age (being older than 40) + +Diabetes + +Heredity may play a role in causing tetralogy of Fallot. An adult who has tetralogy of Fallot may be more likely than other people to have a baby with the condition. + +Children who have certain genetic disorders, such as Down syndrome and DiGeorge syndrome, often have congenital heart defects, including tetralogy of Fallot. + +Researchers continue to search for the causes of tetralogy of Fallot and other congenital heart defects.",NHLBI,Tetralogy of Fallot +What are the symptoms of Tetralogy of Fallot ?,"Cyanosis is an important sign of tetralogy of Fallot. Cyanosis is a bluish tint to the skin, lips, and fingernails. Low oxygen levels in the blood cause cyanosis. + +Babies who have unrepaired tetralogy of Fallot sometimes have ""tet spells."" These spells happen in response to an activity like crying or having a bowel movement. + +A tet spell occurs when the oxygen level in the blood suddenly drops. This causes the baby to become very blue. The baby also may: + +Have a hard time breathing + +Become very tired and limp + +Not respond to a parent's voice or touch + +Become very fussy + +Pass out + +In years past, when tetralogy of Fallot wasn't treated in infancy, children would get very tired during exercise and could faint. Now, doctors repair tetralogy of Fallot in infancy to prevent these symptoms. + +Another common sign of tetralogy of Fallot is a heart murmur. A heart murmur is an extra or unusual sound that doctors might hear while listening to the heart. + +The sound occurs because the heart defect causes abnormal blood flow through the heart. However, not all heart murmurs are signs of congenital heart defects. Many healthy children have heart murmurs. + +Babies who have tetralogy of Fallot may tire easily while feeding. Thus, they may not gain weight or grow as quickly as children who have healthy hearts. Also, normal growth depends on a normal workload for the heart and normal flow of oxygen-rich blood to all parts of the body. + +Children who have tetralogy of Fallot also may have clubbing. Clubbing is the widening or rounding of the skin or bone around the tips of the fingers.",NHLBI,Tetralogy of Fallot +How to diagnose Tetralogy of Fallot ?,"Doctors diagnose tetralogy of Fallot based on a baby's signs and symptoms, a physical exam, and the results from tests and procedures. + +Signs and symptoms of the heart defect usually occur during the first weeks of life. Your infant's doctor may notice signs or symptoms during a routine checkup. Some parents also notice cyanosis or poor feeding and bring the baby to the doctor. (Cyanosis is a bluish tint to the skin, lips, and fingernails.) + +Specialists Involved + +If your child has tetralogy of Fallot, a pediatric cardiologist and pediatric cardiac surgeon may be involved in his or her care. + +A pediatric cardiologist is a doctor who specializes in diagnosing and treating heart problems in children. Pediatric cardiac surgeons repair children's heart defects using surgery. + +Physical Exam + +During a physical exam, the doctor may: + +Listen to your baby's heart and lungs with a stethoscope. + +Look for signs of a heart defect, such as a bluish tint to the skin, lips, or fingernails and rapid breathing. + +Look at your baby's general appearance. Some children who have tetralogy of Fallot also have DiGeorge syndrome. This syndrome causes characteristic facial traits, such as wide-set eyes. + +Diagnostic Tests and Procedures + +Your child's doctor may recommend several tests to diagnose tetralogy of Fallot. These tests can provide information about the four heart defects that occur in tetralogy of Fallot and how serious they are. + +Echocardiography + +Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. During the test, the sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. + +Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. + +Echo is an important test for diagnosing tetralogy of Fallot because it shows the four heart defects and how the heart is responding to them. This test helps the cardiologist decide when to repair the defects and what type of surgery to use. + +Echo also is used to check a child's condition over time, after the defects have been repaired. + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. + +This test can help the doctor find out whether your child's right ventricle is enlarged (ventricular hypertrophy). + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart and lungs. This test can show whether the heart is enlarged or whether the lungs have extra blood flow or extra fluid, a sign of heart failure. + +Pulse Oximetry + +For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood. + +Cardiac Catheterization + +During cardiac catheterization (KATH-eh-ter-ih-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. + +Special dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image. + +The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart.",NHLBI,Tetralogy of Fallot +What are the treatments for Tetralogy of Fallot ?,"Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The goal of surgery is to repair the four defects of tetralogy of Fallot so the heart can work as normally as possible. Repairing the defects can greatly improve a child's health and quality of life. + +The pediatric cardiologist and cardiac surgeon will decide the best time to do the surgery. They will base their decision on your baby's health and weight and the severity of the defects and symptoms. + +Some teenagers or adults who had tetralogy of Fallot repaired in childhood need additional surgery to correct heart problems that develop over time. For more information, go to ""Living With Tetralogy of Fallot."" + +Types of Surgery + +Complete Intracardiac Repair + +Surgery to repair tetralogy of Fallot improves blood flow to the lungs. Surgery also ensures that oxygen-rich and oxygen-poor blood flow to the right places. + +The surgeon will: + +Widen the narrowed pulmonary blood vessels. The pulmonary valve is widened or replaced. Also, the passage from the right ventricle to the pulmonary artery is enlarged. These procedures improve blood flow to the lungs. This allows the blood to get enough oxygen to meet the body's needs. + +Repair the ventricular septal defect (VSD). A patch is used to cover the hole in the septum. This patch stops oxygen-rich and oxygen-poor blood from mixing between the ventricles. + +Fixing these two defects resolves problems caused by the other two defects. When the right ventricle no longer has to work so hard to pump blood to the lungs, it will return to a normal thickness. Fixing the VSD means that only oxygen-rich blood will flow out of the left ventricle into the aorta. + +The incision (cut) that the surgeon makes to reach the heart usually heals in about 6weeks. The surgeon or a hospital staff member will explain when it's okay to give your baby a bath, pick him or her up under the arms, and take your baby for regular shots (immunizations). + +Temporary or Palliative Surgery + +It was common in the past to do temporary surgery during infancy for tetralogy of Fallot. This surgery improved blood flow to the lungs. A complete repair of the four defects was done later in childhood. + +Now, tetralogy of Fallot usually is fully repaired in infancy. However, some babies are too weak or too small to have the full repair. They must have temporary surgery first. This surgery improves oxygen levels in the blood. The surgery also gives the baby time to grow and get strong enough for the full repair. + +For temporary surgery, the surgeon places a tube between a large artery branching off the aorta and the pulmonary artery. The tube is called a shunt. One end of the shunt is sewn to the artery branching off the aorta. The other end is sewn to the pulmonary artery. + +The shunt creates an additional pathway for blood to travel to the lungs to get oxygen. The surgeon removes the shunt when the baby's heart defects are fixed during the full repair. + +After temporary surgery, your baby may need medicines to keep the shunt open while waiting for the full repair. These medicines are stopped after the surgeon removes the shunt.",NHLBI,Tetralogy of Fallot +What is (are) Heart Murmur ?,"A heart murmur is an extra or unusual sound heard during a heartbeat. Murmurs range from very faint to very loud. Sometimes they sound like a whooshing or swishing noise. + +Normal heartbeats make a ""lub-DUPP"" or ""lub-DUB"" sound. This is the sound of the heart valves closing as blood moves through the heart. Doctors can hear these sounds and heart murmurs using a stethoscope. + +Overview + +The two types of heart murmurs are innocent (harmless) and abnormal. + +Innocent heart murmurs aren't caused by heart problems. These murmurs are common in healthy children. Many children will have heart murmurs heard by their doctors at some point in their lives. + +People who have abnormal heart murmurs may have signs or symptoms of heart problems. Most abnormal murmurs in children are caused by congenital (kon-JEN-ih-tal) heart defects. These defects are problems with the heart's structure that are present at birth. + +In adults, abnormal heart murmurs most often are caused by acquired heart valve disease. This is heart valve disease that develops as the result of another condition. Infections, diseases, and aging can cause heart valve disease. + +Outlook + +A heart murmur isn't a disease, and most murmurs are harmless. Innocent murmurs don't cause symptoms. Having one doesn't require you to limit your physical activity or do anything else special. Although you may have an innocent murmur throughout your life, you won't need treatment for it. + +The outlook and treatment for abnormal heart murmurs depend on the type and severity of the heart problem causing them.",NHLBI,Heart Murmur +What causes Heart Murmur ?,"Innocent Heart Murmurs + +Why some people have innocent heart murmurs and others do not isn't known. Innocent murmurs are simply sounds made by blood flowing through the heart's chambers and valves, or through blood vessels near the heart. + +Extra blood flow through the heart also may cause innocent heart murmurs. After childhood, the most common cause of extra blood flow through the heart is pregnancy. This is because during pregnancy, women's bodies make extra blood. Most heart murmurs that occur in pregnant women are innocent. + +Abnormal Heart Murmurs + +Congenital heart defects or acquired heart valve disease often are the cause of abnormal heart murmurs. + +Congenital Heart Defects + +Congenital heart defects are the most common cause of abnormal heart murmurs in children. These defects are problems with the heart's structure that are present at birth. They change the normal flow of blood through the heart. + +Congenital heart defects can involve the interior walls of the heart, the valves inside the heart, or the arteries and veins that carry blood to and from the heart. Some babies are born with more than one heart defect. + +Heart valve problems, septal defects (also called holes in the heart), and diseases of the heart muscle such as hypertrophic cardiomyopathy are common heart defects that cause abnormal heart murmurs. + +Examples of valve problems are narrow valves that limit blood flow or leaky valves that don't close properly. Septal defects are holes in the wall that separates the right and left sides of the heart. This wall is called the septum. + +A hole in the septum between the heart's two upper chambers is called an atrial septal defect. A hole in the septum between the heart's two lower chambers is called a ventricular septal defect. + +Hypertrophic (hi-per-TROF-ik) cardiomyopathy (kar-de-o-mi-OP-ah-thee) (HCM) occurs if heart muscle cells enlarge and cause the walls of the ventricles (usually the left ventricle) to thicken. The thickening may block blood flow out of the ventricle. If a blockage occurs, the ventricle must work hard to pump blood to the body. HCM also can affect the hearts mitral valve, causing blood to leak backward through the valve. + +Heart Defects That Can Cause Abnormal Heart Murmurs + + + +For more information, go to the Health Topics Congenital Heart Defects article. + +Acquired Heart Valve Disease + +Acquired heart valve disease often is the cause of abnormal heart murmurs in adults. This is heart valve disease that develops as the result of another condition. + +Many conditions can cause heart valve disease. Examples include heart conditions and other disorders, age-related changes, rheumatic (ru-MAT-ik) fever, and infections. + +Heart conditions and other disorders. Certain conditions can stretch and distort the heart valves, such as: + +Damage and scar tissue from a heart attack or injury to the heart. + +Advanced high blood pressure and heart failure. These conditions can enlarge the heart or its main arteries. + +Age-related changes. As you get older, calcium deposits or other deposits may form on your heart valves. These deposits stiffen and thicken the valve flaps and limit blood flow. This stiffening and thickening of the valve is called sclerosis (skle-RO-sis). + +Rheumatic fever. The bacteria that cause strep throat, scarlet fever, and, in some cases, impetigo (im-peh-TI-go) also can cause rheumatic fever. This serious illness can develop if you have an untreated or not fully treated streptococcal (strep) infection. + +Rheumatic fever can damage and scar the heart valves. The symptoms of this heart valve damage often don't occur until many years after recovery from rheumatic fever. + +Today, most people who have strep infections are treated with antibiotics before rheumatic fever develops. It's very important to take all of the antibiotics your doctor prescribes for strep throat, even if you feel better before the medicine is gone. + +Infections. Common germs that enter the bloodstream and get carried to the heart can sometimes infect the inner surface of the heart, including the heart valves. This rare but sometimes life-threatening infection is called infective endocarditis (EN-do-kar-DI-tis), or IE. + +IE is more likely to develop in people who already have abnormal blood flow through a heart valve because of heart valve disease. The abnormal blood flow causes blood clots to form on the surface of the valve. The blood clots make it easier for germs to attach to and infect the valve. + +IE can worsen existing heart valve disease. + +Other Causes + +Some heart murmurs occur because of an illness outside of the heart. The heart is normal, but an illness or condition can cause blood flow that's faster than normal. Examples of this type of illness include fever, anemia (uh-NEE-me-eh), and hyperthyroidism. + +Anemia is a condition in which the body has a lower than normal number of red blood cells. Hyperthyroidism is a condition in which the body has too much thyroid hormone.",NHLBI,Heart Murmur +What are the symptoms of Heart Murmur ?,"People who have innocent (harmless) heart murmurs don't have any signs or symptoms other than the murmur itself. This is because innocent heart murmurs aren't caused by heart problems. + +People who have abnormal heart murmurs may have signs or symptoms of the heart problems causing the murmurs. These signs and symptoms may include: + +Poor eating and failure to grow normally (in infants) + +Shortness of breath, which may occur only with physical exertion + +Excessive sweating with minimal or no exertion + +Chest pain + +Dizziness or fainting + +A bluish color on the skin, especially on the fingertips and lips + +Chronic cough + +Swelling or sudden weight gain + +Enlarged liver + +Enlarged neck veins + +Signs and symptoms depend on the problem causing the heart murmur and its severity.",NHLBI,Heart Murmur +How to diagnose Heart Murmur ?,"Doctors use a stethoscope to listen to heart sounds and hear heart murmurs. They may detect heart murmurs during routine checkups or while checking for another condition. + +If a congenital heart defect causes a murmur, it's often heard at birth or during infancy. Abnormal heart murmurs caused by other heart problems can be heard in patients of any age. + +Specialists Involved + +Primary care doctors usually refer people who have abnormal heart murmurs to cardiologists or pediatric cardiologists for further care and testing. + +Cardiologists are doctors who specialize in diagnosing and treating heart problems in adults. Pediatric cardiologists specialize in diagnosing and treating heart problems in children. + +Physical Exam + +Your doctor will carefully listen to your heart or your child's heart with a stethoscope to find out whether a murmur is innocent or abnormal. He or she will listen to the loudness, location, and timing of the murmur. This will help your doctor diagnose the cause of the murmur. + +Your doctor also may: + +Ask about your medical and family histories. + +Do a complete physical exam. He or she will look for signs of illness or physical problems. For example, your doctor may look for a bluish color on your skin. In infants, doctors may look for delayed growth and feeding problems. + +Ask about your symptoms, such as chest pain, shortness of breath (especially with physical exertion), dizziness, or fainting. + +Evaluating Heart Murmurs + +When evaluating a heart murmur, your doctor will pay attention to many things, such as: + +How faint or loud the sound is. Your doctor will grade the murmur on a scale of 1 to 6 (1 is very faint and 6 is very loud). + +When the sound occurs in the cycle of the heartbeat. + +Where the sound is heard in the chest and whether it also can be heard in the neck or back. + +Whether the sound has a high, medium, or low pitch. + +How long the sound lasts. + +How breathing, physical activity, or a change in body position affects the sound. + +Diagnostic Tests and Procedures + +If your doctor thinks you or your child has an abnormal heart murmur, he or she may recommend one or more of the following tests. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. This test is done to find the cause of symptoms, such as shortness of breath and chest pain. + +EKG + +An EKG (electrocardiogram) is a simple test that detects and records the heart's electrical activity. An EKG shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +This test is used to detect and locate the source of heart problems. The results from an EKG also may be used to rule out certain heart problems. + +Echocardiography + +Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart. The test shows the size and shape of your heart and how well your heart's chambers and valves are working. + +Echo also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +There are several types of echo, including a stress echo. This test is done both before and after a stress test. During this test, you exercise to make your heart work hard and beat fast. If you cant exercise, you may be given medicine to make your heart work hard and beat fast. Echo is used to take pictures of your heart before you exercise and as soon as you finish. + +Stress echo shows whether you have decreased blood flow to your heart (a sign of coronary heart disease).",NHLBI,Heart Murmur +What are the treatments for Heart Murmur ?,"A heart murmur isn't a disease. It's an extra or unusual sound heard during the heartbeat. Thus, murmurs themselves don't require treatment. However, if an underlying condition is causing a heart murmur, your doctor may recommend treatment for that condition. + +Innocent (Harmless) Heart Murmurs + +Healthy children who have innocent (harmless) heart murmurs don't need treatment. Their heart murmurs aren't caused by heart problems or other conditions. + +Pregnant women who have innocent heart murmurs due to extra blood volume also don't need treatment. Their heart murmurs should go away after pregnancy. + +Abnormal Heart Murmurs + +If you or your child has an abnormal heart murmur, your doctor will recommend treatment for the disease or condition causing the murmur. + +Some medical conditions, such as anemia or hyperthyroidism, can cause heart murmurs that aren't related to heart disease. Treating these conditions should make the heart murmur go away. + +If a congenital heart defect is causing a heart murmur, treatment will depend on the type and severity of the defect. Treatment may include medicines or surgery. For more information about treatments for congenital heart defects, go to the Health Topics Congenital Heart Defects article. + +If acquired heart valve disease is causing a heart murmur, treatment usually will depend on the type, amount, and severity of the disease. + +Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can treat symptoms and help delay complications. Eventually, though, you may need surgery to repair or replace a faulty heart valve. + +For more information about treatments for heart valve disease, go to the Health Topics Heart Valve Disease article.",NHLBI,Heart Murmur +What is (are) Marfan Syndrome ?,"Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. + +Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening. + +Overview + +Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. + +Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. + +In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition. + +Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as: + +A tall, thin build. + +Long arms, legs, fingers, and toes and flexible joints. + +A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis). + +A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively. + +Teeth that are too crowded. + +Flat feet. + +Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few. + +The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation (di-LA-shun) or aortic aneurysm (AN-u-rism). + +If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death. + +Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how you do them, may help reduce the risks to the aorta, eyes, and joints. + +The type of treatment you receive depends on how the condition is affecting your body. + +Outlook + +About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition. + +Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan. + +Researchers continue to study the condition and look for better treatments.",NHLBI,Marfan Syndrome +What causes Marfan Syndrome ?,"Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. + +Most people who have Marfan syndrome inherit it from their parents. If you have the condition, you have a 50 percent chance of passing the altered gene to each of your children. + +Sometimes Marfan syndrome isn't inherited. The mutation in the fibrillin gene occurs in the egg or sperm cells. If a child is conceived, the altered gene may be passed on to the child. The risk of that child's brothers or sisters having Marfan syndrome is low.",NHLBI,Marfan Syndrome +Who is at risk for Marfan Syndrome? ?,"People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. + +Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, and children, and people of all races, can have the condition.",NHLBI,Marfan Syndrome +What are the symptoms of Marfan Syndrome ?,"Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family. + +Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening. + +Marfan Traits + +Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as: + +A tall, thin build. + +Long arms, legs, fingers, and toes and flexible joints. + +A spine that curves to one side. This condition is called scoliosis. + +A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively. + +Teeth that are too crowded. + +Flat feet. + +Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen. + +Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders. + +Complications of Marfan Syndrome + +Heart and Blood Vessel Complications + +The most serious complications of Marfan syndrome involve the heart and blood vessels. + +Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm. + +If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death. + +Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 911. + +Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP). + +MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms. + +If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat. + +Eye Complications + +Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome. + +Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur. + +Nervous System Complications + +Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak. + +This condition, called dural ectasia (ek-TA-ze-ah), can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away. + +Symptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs. + +Lung Complications + +Marfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse. + +The most common symptoms of a collapsed lung are sudden pain in one side of the lung and shortness of breath. + +Conditions such as scoliosis (a curved spine) and pectus excavatum (a chest that sinks in) can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema (em-fi-SE-ma). + +Marfan syndrome also has been linked to sleep apnea. In people who have Marfan syndrome, the shape of the face, oral cavity, or teeth may increase the risk of sleep apnea. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep. + +Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.",NHLBI,Marfan Syndrome +How to diagnose Marfan Syndrome ?,"Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. He or she also will consult a set of guidelines called Ghent criteria, which are used to diagnose Marfan syndrome. + +Marfan syndrome can be hard to diagnose. This is because its signs, or traits, are the same as or similar to the signs of other connective tissue disorders. + +If you're diagnosed with Marfan syndrome, all of your first-degree relatives (for example, parents, siblings, and children) also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit. + +Specialists Involved + +Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome. + +If so, your doctor will likely refer you to a geneticist or cardiologist. A geneticist is hereditary disease expert. A cardiologist is a heart specialist. These two types of specialists often have the most experience working with people who have Marfan syndrome. + +A geneticist will ask for medical information about you and your family. He or she will examine you and perhaps other members of your family. The geneticist also will coordinate your visits with other doctors, including a cardiologist, an ophthalmologist (eye specialist), and an orthopedist. + +After reviewing the medical findings, the geneticist will determine whether you have Marfan syndrome. + +Medical and Family Histories + +Your doctor will ask about your medical history and your family's medical history. For example, your doctor may ask whether: + +You've had heart disease, eye problems, or problems with your spine. These complications are common in people who have Marfan syndrome. + +You have shortness of breath, palpitations, or chest pain. These are common symptoms of heart or lung problems linked to Marfan syndrome. + +Any of your family members have Marfan syndrome, have died from heart problems, or have died suddenly. + +Physical Exam + +During the physical exam, your doctor will look for Marfan syndrome traits. For example, he or she may check the curve of your spine and the shape of your feet. Your doctor also will listen to your heart and lungs with a stethoscope. + +Diagnostic Tests + +Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome. + +Echocardiography + +Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart and blood vessels. + +This test shows the size and shape of your heart and the diameter of your aorta or other blood vessels. (The aorta is the main artery that carries oxygen-rich blood to your body.) Echo also shows how well your heart's chambers and valves are working. + +For people who have Marfan syndrome, echo mainly is used to check the heart's valves and aorta. + +Magnetic Resonance Imaging and Computed Tomography Scans + +Magnetic resonance imaging (MRI) is a test that uses radio waves and magnets to create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take clear, detailed pictures of your organs. + +MRI and CT scans are used to check your heart valves and aorta. These scans also are used to check for dural ectasia, a nervous system complication of Marfan syndrome. + +Slit-Lamp Exam + +For this test, an ophthalmologist (eye specialist) will use a microscope with a light to check your eyes. A slit-lamp exam can find out whether you have a dislocated lens, cataracts, or a detached retina. + +Genetic Testing + +In general, genetic testing involves blood tests to detect changes in genes. However, because many different genetic changes can cause Marfan syndrome, no single blood test can diagnose the condition. + +Ghent Criteria + +Because no single test can diagnose Marfan syndrome, doctors use a set of guidelines called Ghent criteria to help diagnose the condition. The Ghent criteria are divided into major criteria and minor criteria. Sometimes genetic testing is part of this evaluation. + +Major criteria include traits that are common in people who have Marfan syndrome. Minor criteria include traits that are common in many people. Doctors use a scoring system based on the number and type of Ghent criteria present to diagnose Marfan syndrome. + +Talk with your doctor about which traits you have and your likelihood of having Marfan syndrome.",NHLBI,Marfan Syndrome +What are the treatments for Marfan Syndrome ?,"Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. + +Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms. + +Heart Treatments + +Aortic dilation, or aortic aneurysm, is the most common and serious heart problem linked to Marfan syndrome. In this condition, the aortathe main artery that carries oxygen-rich blood to your bodystretches and grows weak. + +Medicines are used to try to slow the rate of aortic dilation. Surgery is used to replace the dilated segment of aorta before it tears. + +If you have Marfan syndrome, you'll need routine care and tests to check your heart valves and aorta. + +Medicines + +Beta blockers are medicines that help your heart beat slower and with less force. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation. + +Some people have side effects from beta blockers, such as tiredness and nausea (feeling sick to your stomach). If side effects occur, your doctor may prescribe a calcium channel blocker or ACE inhibitor instead of a beta blocker. Both medicines help relieve stress on the aorta. + +Studies suggest that blocking a protein called TGF-beta may help prevent some of the effects of Marfan syndrome. Research shows that the medicine losartan may block the protein in other conditions. + +The National Heart, Lung, and Blood Institute currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation. + +Surgery + +If your aorta stretches, it's more likely to tear (a condition called aortic dissection). To prevent this, your doctor may recommend surgery to repair or replace part of your aorta. + +Surgery may involve: + +A composite valve graft. For this surgery, part of the aorta and the aortic valve are removed. The aorta is replaced with a man-made tube called a graft. A man-made valve replaces the original valve. + +Aortic valve-sparing surgery. If your aortic valve is working well, your doctor may recommend valve-sparing surgery. For this surgery, your doctor replaces the enlarged part of your aorta with a graft. Your aortic valve is left in place. + +After aortic surgery, you may need medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe medicines called anticoagulants, or ""blood thinners."" + +Blood thinners help prevent blood clots from forming on your man-made aortic valve. You'll need to take these medicines for the rest of your life. If you've had valve-sparing surgery, you'll only need to take blood thinners for a short time, as your doctor prescribes. + +If you've had a composite valve graft, you're at increased risk for endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of your heart chambers and valves. Your doctor may recommend that you take antibiotics before certain medical or dental procedures that increase your risk of endocarditis. + +Your doctor also may advise you to continue taking beta blockers or other medicines after either type of aortic surgery. + +After surgery, you may have routine cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT) scans to check your aorta. + +Cardiac MRI is a painless test that uses radio waves and magnets to created detailed pictures of your organs and tissues. Cardiac CT is a painless test that uses an x-ray machine to take clear, detailed pictures of your heart. + +Bone and Joint Treatments + +If you have scoliosis (a curved spine), your doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery. + +Some people who have Marfan syndrome need surgery to repair a chest that sinks in or sticks out. This surgery is done to prevent the chest from pressing on the lungs and heart. + +Eye Treatments + +Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and cataracts (clouding of an eye's lens). + +Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed. + +Nervous System Treatments + +Marfan syndrome can lead to dural ectasia. In this condition, a substance called the dura (which covers the fluid around your brain and spinal cord) stretches and grows weak. This can cause the bones of the spine to wear away. Dural ectasia usually is treated with pain medicines. + +Lung Treatments + +Marfan syndrome may cause pneumothorax, or collapsed lung. In this condition, air or gas builds up in the space between the lungs and the chest wall. + +If the condition is minor, it may go away on its own. However, you may need to have a tube placed through your skin and chest wall to remove the air. Sometimes surgery is needed.",NHLBI,Marfan Syndrome +What is (are) Heart Palpitations ?,"Palpitations (pal-pi-TA-shuns) are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast. You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying down. + +Overview + +Many things can trigger palpitations, including: + +Strong emotions + +Vigorous physical activity + +Medicines such as diet pills and decongestants + +Caffeine, alcohol, nicotine, and illegal drugs + +Certain medical conditions, such as thyroid disease or anemia (uh-NEE-me-uh) + +These factors can make the heart beat faster or stronger than usual, or they can cause premature (extra) heartbeats. In these situations, the heart is still working normally. Thus, these palpitations usually are harmless. + +Some palpitations are symptoms of arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. + +Some arrhythmias are signs of heart conditions, such as heart attack, heart failure, heart valve disease, or heart muscle disease. However, less than half of the people who have palpitations have arrhythmias. + +You can take steps to reduce or prevent palpitations. Try to avoid things that trigger them (such as stress and stimulants) and treat related medical conditions. + +Outlook + +Palpitations are very common. They usually aren't serious or harmful, but they can be bothersome. If you have them, your doctor can decide whether you need treatment or ongoing care.",NHLBI,Heart Palpitations +What causes Heart Palpitations ?,"Many things can cause palpitations. You may have these feelings even when your heart is beating normally or somewhat faster than normal. + +Most palpitations are harmless and often go away on their own. However, some palpitations are signs of a heart problem. Sometimes the cause of palpitations can't be found. + +If you start having palpitations, see your doctor to have them checked. + +Causes Not Related to Heart Problems + +Strong Emotions + +You may feel your heart pounding or racing during anxiety, fear, or stress. You also may have these feelings if you're having a panic attack. + +Vigorous Physical Activity + +Intense activity can make your heart feel like its beating too hard or too fast, even though it's working normally. Intense activity also can cause occasional premature (extra) heartbeats. + +Medical Conditions + +Some medical conditions can cause palpitations. These conditions can make the heart beat faster or stronger than usual. They also can cause premature (extra) heartbeats. + +Examples of these medical conditions include: + +An overactive thyroid + +A low blood sugar level + +Anemia + +Some types of low blood pressure + +Fever + +Dehydration (not enough fluid in the body) + +Hormonal Changes + +The hormonal changes that happen during pregnancy, menstruation, and the perimenopausal period may cause palpitations. The palpitations will likely improve or go away as these conditions go away or change. + +Some palpitations that occur during pregnancy may be due to anemia. + +Medicines and Stimulants + +Many medicines can trigger palpitations because they can make the heart beat faster or stronger than usual. Medicines also can cause premature (extra) heartbeats. + +Examples of these medicines include: + +Inhaled asthma medicines. + +Medicines to treat an underactive thyroid. Taking too much of these medicines can cause an overactive thyroid and lead to palpitations. + +Medicines to prevent arrhythmias. Medicines used to treat irregular heart rhythms can sometimes cause other irregular heart rhythms. + +Over-the-counter medicines that act as stimulants also may cause palpitations. These include decongestants (found in cough and cold medicines) and some herbal and nutritional supplements. + +Caffeine, nicotine (found in tobacco), alcohol, and illegal drugs (such as cocaine and amphetamines) also can cause palpitations. + +Causes Related to Heart Problems + +Some palpitations are symptoms of arrhythmias. Arrhythmias are problems with the rate or rhythm of the heartbeat. However, less than half of the people who have palpitations have arrhythmias. + +During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. An arrhythmia happens if some part of the heart's electrical system doesn't work as it should. + +Palpitations are more likely to be related to an arrhythmia if you: + +Have had a heart attack or are at risk for one. + +Have coronary heart disease (CHD) or risk factors for CHD. + +Have other heart problems, such as heart failure, heart valve disease, or heart muscle disease. + +Have abnormal electrolyte levels. Electrolytes are minerals, such as potassium and sodium, found in blood and body fluids. They're vital for normal health and functioning of the body.",NHLBI,Heart Palpitations +Who is at risk for Heart Palpitations? ?,"Some people may be more likely than others to have palpitations. People at increased risk include those who: + +Have anxiety or panic attacks, or people who are highly stressed + +Take certain medicines or stimulants + +Have certain medical conditions that aren't related to heart problems, such as an overactive thyroid + +Have certain heart problems, such as arrhythmias (irregular heartbeats), a previous heart attack, heart failure, heart valve disease, or heart muscle disease + +Women who are pregnant, menstruating, or perimenopausal also may be at higher risk for palpitations because of hormonal changes. Some palpitations that occur during pregnancy may be due to anemia. + +For more information about these risk factors, go to ""What Causes Palpitations?""",NHLBI,Heart Palpitations +What are the symptoms of Heart Palpitations ?,"Symptoms of palpitations include feelings that your heart is: + +Skipping a beat + +Fluttering + +Beating too hard or too fast + +You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying down. + +Palpitations often are harmless, and your heart is working normally. However, these feelings can be a sign of a more serious problem if you also: + +Feel dizzy or confused + +Are light-headed, think you may faint, or do faint + +Have trouble breathing + +Have pain, pressure, or tightness in your chest, jaw, or arms + +Feel short of breath + +Have unusual sweating + +Your doctor may have already told you that your palpitations are harmless. Even so, see your doctor again if your palpitations: + +Start to occur more often or are more noticeable or bothersome + +Occur with other symptoms, such as those listed above + +Your doctor will want to check whether your palpitations are the symptom of a heart problem, such as an arrhythmia (irregular heartbeat).",NHLBI,Heart Palpitations +How to diagnose Heart Palpitations ?,"First, your doctor will want to find out whether your palpitations are harmless or related to a heart problem. He or she will ask about your symptoms and medical history, do a physical exam, and recommend several basic tests. + +This information may point to a heart problem as the cause of your palpitations. If so, your doctor may recommend more tests. These tests will help show what the problem is, so your doctor can decide how to treat it. + +The cause of palpitations may be hard to diagnose, especially if symptoms don't occur regularly. + +Specialists Involved + +Several types of doctors may work with you to diagnose and treat your palpitations. These include a: + +Primary care doctor + +Cardiologist (a doctor who specializes in diagnosing and treating heart diseases and conditions) + +Electrophysiologist (a cardiologist who specializes in the heart's electrical system) + +Medical History + +Your doctor will ask questions about your palpitations, such as: + +When did they begin? + +How long do they last? + +How often do they occur? + +Do they start and stop suddenly? + +Does your heartbeat feel steady or irregular during the palpitations? + +Do other symptoms occur with the palpitations? + +Do your palpitations have a pattern? For example, do they occur when you exercise or drink coffee? Do they happen at a certain time of day? + +Your doctor also may ask about your use of caffeine, alcohol, supplements, and illegal drugs. + +Physical Exam + +Your doctor will take your pulse to find out how fast your heart is beating and whether its rhythm is normal. He or she also will use a stethoscope to listen to your heartbeat. + +Your doctor may look for signs of conditions that can cause palpitations, such as an overactive thyroid. + +Diagnostic Tests + +Often, the first test that's done is an EKG (electrocardiogram). This simple test records your heart's electrical activity. + +An EKG shows how fast your heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through your heart. + +Even if your EKG results are normal, you may still have a medical condition that's causing palpitations. If your doctor suspects this is the case, you may have blood tests to gather more information about your heart's structure, function, and electrical system. + +Holter or Event Monitor + +A standard EKG only records the heartbeat for a few seconds. It won't detect heart rhythm problems that don't happen during the test. To diagnose problems that come and go, your doctor may have you wear a Holter or event monitor. + +A Holter monitor records the hearts electrical activity for a full 24- or 48-hour period. You wear patches called electrodes on your chest. Wires connect the patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck. + +During the 24- or 48-hour period, you do your usual daily activities. You use a notebook to record any symptoms you have and the time they occur. You then return both the recorder and the notebook to your doctor to read the results. Your doctor can see how your heart was beating at the time you had symptoms. + +An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. + +For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +You can wear an event monitor for weeks or until symptoms occur. + +Holter or Event Monitor + + + +Echocardiography + +Echocardiography uses sound waves to create a moving picture of your heart. The picture shows the size and shape of your heart and how well your heart chambers and valves are working. + +The test also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you cant exercise, you may be given medicine to make your heart work hard and beat fast.",NHLBI,Heart Palpitations +What are the treatments for Heart Palpitations ?,"Treatment for palpitations depends on their cause. Most palpitations are harmless and often go away on their own. In these cases, no treatment is needed. + +Avoiding Triggers + +Your palpitations may be harmless but bothersome. If so, your doctor may suggest avoiding things that trigger them. For examples, your doctor may advise you to: + +Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may help you relax. + +Avoid or limit stimulants, such as caffeine, nicotine, or alcohol. + +Avoid illegal drugs, such as cocaine and amphetamines. + +Avoid medicines that act as stimulants, such as cough and cold medicines and some herbal and nutritional supplements. + +Treating Medical Conditions That May Cause Palpitations + +Work with your doctor to control medical conditions that can cause palpitations, such as an overactive thyroid. If you're taking medicine that's causing palpitations, your doctor will try to find a different medicine for you. + +If your palpitations are caused by an arrhythmia (irregular heartbeat), your doctor may recommend medicines or procedures to treat the problem. For more information, go to the Health Topics Arrhythmia article.",NHLBI,Heart Palpitations +How to prevent Heart Palpitations ?,"You can take steps to prevent palpitations. Try to avoid things that trigger them. For example: + +Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may help you relax. + +Avoid or limit stimulants, such as caffeine, nicotine, or alcohol. + +Avoid illegal drugs, such as cocaine and amphetamines. + +Avoid medicines that act as stimulants, such as cough and cold medicines and some herbal and nutritional supplements. + +Also, work with your doctor to treat medical conditions that can cause palpitations.",NHLBI,Heart Palpitations +What is (are) Thalassemias ?,"Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. ""Inherited"" means that the disorder is passed from parents to children through genes. + +Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled. + +People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). Anemia is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells. + +Overview + +Normal hemoglobin, also called hemoglobin A, has four protein chainstwo alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains. + +Four genes (two from each parent) are needed to make enough alpha globin protein chains. Alpha thalassemia trait occurs if one or two of the four genes are missing. If more than two genes are missing, moderate to severe anemia occurs. + +The most severe form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis. Babies who have this disorder usually die before or shortly after birth. + +Two genes (one from each parent) are needed to make enough beta globin protein chains. Beta thalassemia occurs if one or both genes are altered. + +The severity of beta thalassemia depends on how much one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia is known as thalassemia major or Cooley's anemia. + +Thalassemias affect males and females. The disorders occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions. + +Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures. + +Outlook + +Treatments for thalassemias have improved over the years. People who have moderate or severe thalassemias are now living longer and have better quality of life. + +However, complications from thalassemias and their treatments are frequent. People who have moderate or severe thalassemias must closely follow their treatment plans. They need to take care of themselves to remain as healthy as possible.",NHLBI,Thalassemias +What causes Thalassemias ?,"Your body makes three types of blood cells: red blood cells, white blood cells, and platelets (PLATE-lets). Red blood cells contain hemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body. Hemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs, where it's exhaled. + +Hemoglobin has two kinds of protein chains: alpha globin and beta globin. If your body doesn't make enough of these protein chains or they're abnormal, red blood cells won't form correctly or carry enough oxygen. Your body won't work well if your red blood cells don't make enough healthy hemoglobin. + +Genes control how the body makes hemoglobin protein chains. When these genes are missing or altered, thalassemias occur. + +Thalassemias are inherited disordersthat is, they're passed from parents to children through genes. People who inherit faulty hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the faulty genes on to their children. + +People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents. + +Alpha Thalassemias + +You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. This means that your body doesn't make enough alpha globin protein. + +If you're only missing one gene, you're a ""silent"" carrier. This means you won't have any signs of illness. + +If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia. + +If you're missing three genes, you likely have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia. + +Very rarely, a baby is missing all four genes. This condition is called alpha thalassemia major or hydrops fetalis. Babies who have hydrops fetalis usually die before or shortly after birth. + +Example of an Inheritance Pattern for Alpha Thalassemia + + + +Beta Thalassemias + +You need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these genes are altered, you'll have beta thalassemia. This means that your body wont make enough beta globin protein. + +If you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia. + +If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form causes severe anemia. + +Example of an Inheritance Pattern for Beta Thalassemia",NHLBI,Thalassemias +Who is at risk for Thalassemias? ?,"Family history and ancestry are the two risk factors for thalassemias. + +Family History + +Thalassemias are inheritedthat is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia. + +Ancestry + +Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.",NHLBI,Thalassemias +What are the symptoms of Thalassemias ?,"A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. + +No Symptoms + +Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. The lack of alpha globin protein is so minor that the body's hemoglobin works normally. + +Mild Anemia + +People who have alpha or beta thalassemia trait can have mild anemia. However, many people who have these types of thalassemia have no signs or symptoms. + +Mild anemia can make you feel tired. Mild anemia caused by alpha thalassemia trait might be mistaken for iron-deficiency anemia. + +Mild to Moderate Anemia and Other Signs and Symptoms + +People who have beta thalassemia intermedia have mild to moderate anemia. They also may have other health problems, such as: + +Slowed growth and delayed puberty. Anemia can slow down a child's growth and development. + +Bone problems. Thalassemia may cause bone marrow to expand. Bone marrow is the spongy substance inside bones that makes blood cells. When bone marrow expands, the bones become wider than normal. They may become brittle and break easily. + +An enlarged spleen. The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must be removed. + +Severe Anemia and Other Signs and Symptoms + +People who have hemoglobin H disease or beta thalassemia major (also called Cooley's anemia) have severe thalassemia. Signs and symptoms usually occur within the first 2years of life. They may include severe anemia and other health problems, such as: + +A pale and listless appearance + +Poor appetite + +Dark urine (a sign that red blood cells are breaking down) + +Slowed growth and delayed puberty + +Jaundice (a yellowish color of the skin or whites of the eyes) + +An enlarged spleen, liver, or heart + +Bone problems (especially with bones in the face) + +Complications of Thalassemias + +Better treatments now allow people who have moderate and severe thalassemias to live much longer. As a result, these people must cope with complications of these disorders that occur over time. + +Heart and Liver Diseases + +Regular blood transfusions are a standard treatment for thalassemias. Transfusions can cause iron to build up in the blood (iron overload). This can damage organs and tissues, especially the heart and liver. + +Heart disease caused by iron overload is the main cause of death in people who have thalassemias. Heart disease includes heart failure, arrhythmias (irregular heartbeats), and heart attack. + +Infection + +Among people who have thalassemias, infections are a key cause of illness and the second most common cause of death. People who have had their spleens removed are at even higher risk because they no longer have this infection-fighting organ. + +Osteoporosis + +Many people who have thalassemias have bone problems, including osteoporosis (OS-te-o-po-RO-sis). This is a condition in which bones are weak and brittle and break easily.",NHLBI,Thalassemias +How to diagnose Thalassemias ?,"Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. + +A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. + +Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin. + +Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2years of life. + +People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (For more information, go to ""Who Is at Risk for Thalassemias?"") + +Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. Iron-deficiency anemia occurs if the body doesn't have enough iron to make hemoglobin. The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. + +Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. These studies involve taking a family medical history and doing blood tests on family members. The tests will show whether any family members have missing or altered hemoglobin genes. + +If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. They can help determine your risk for passing the disorder to your children. + +If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing. + +Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother's womb.) Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it might be.",NHLBI,Thalassemias +What are the treatments for Thalassemias ?,"Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. Theyll likely need little or no treatment. + +Doctors use three standard treatments for moderate and severe forms of thalassemia. These treatments include blood transfusions, iron chelation (ke-LAY-shun) therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they're used much less often. + +Standard Treatments + +Blood Transfusions + +Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. This treatment gives you healthy red blood cells with normal hemoglobin. + +During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours. + +Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a healthy supply of red blood cells. + +If you have hemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions on occasion. For example, you may have transfusions when you have an infection or other illness, or when your anemia is severe enough to cause tiredness. + +If you have beta thalassemia major (Cooley's anemia), youll likely need regular blood transfusions (often every 2 to 4 weeks). These transfusions will help you maintain normal hemoglobin and red blood cell levels. + +Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood. This treatment is lifesaving, but it's expensive and carries a risk of transmitting infections and viruses (for example, hepatitis). However, the risk is very low in the United States because of careful blood screening. + +For more information, go to the Health Topics Blood Transfusion article. + +Iron Chelation Therapy + +The hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body. + +To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two medicines are used for iron chelation therapy. + +Deferoxamine is a liquid medicine that's given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems with vision and hearing. + +Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and tiredness. + +Folic Acid Supplements + +Folic acid is a B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy. + +Other Treatments + +Other treatments for thalassemias have been developed or are being tested, but they're used much less often. + +Blood and Marrow Stem Cell Transplant + +A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells. + +A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have severe thalassemias are able to find a good donor match and have the risky procedure. + +For more information, go to the Health Topics Blood and Marrow Stem Cell Transplant article. + +Possible Future Treatments + +Researchers are working to find new treatments for thalassemias. For example, it might be possible someday to insert a normal hemoglobin gene into stem cells in bone marrow. This will allow people who have thalassemias to make their own healthy red blood cells and hemoglobin. + +Researchers also are studying ways to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns. After birth, the body switches to making adult hemoglobin. Making more fetal hemoglobin might make up for the lack of healthy adult hemoglobin. + +Treating Complications + +Better treatments now allow people who have moderate and severe thalassemias to live longer. As a result, these people must cope with complications that occur over time. + +An important part of managing thalassemias is treating complications. Treatment might be needed for heart or liver diseases, infections, osteoporosis, and other health problems.",NHLBI,Thalassemias +How to prevent Thalassemias ?,"You cant prevent thalassemias because theyre inherited (passed from parents to children through genes). However, prenatal tests can detect these blood disorders before birth. + +Family genetic studies may help find out whether people have missing or altered hemoglobin genes that cause thalassemias. (For more information, go to ""How Are Thalassemias Diagnosed?"") + +If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. They can help determine your risk for passing the disorder to your children.",NHLBI,Thalassemias +What is (are) Hemochromatosis ?,"Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. + +Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas. + +Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes the organ to not work well. + +Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes. + +If hemochromatosis isn't treated, it may even cause death. + +Overview + +The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. + +Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genesone from each parentyou're at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than usual from the foods you eat. + +Hemochromatosis is one of the most common genetic disorders in the United States. However, not everyone who has hemochromatosis has signs or symptoms of the disease. + +Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms. + +The severity of hemochromatosis also varies. Some people don't have complications, even with high levels of iron in their bodies. Others have severe complications or die from the disease. + +Certain factors can affect the severity of the disease. For example, a high intake of vitamin C can make hemochromatosis worse. This is because vitamin C helps your body absorb iron from food. + +Alcohol use can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis also can further damage or weaken the liver. + +Outlook + +The outlook for people who have hemochromatosis largely depends on how much organ damage they have at the time of diagnosis. Early diagnosis and treatment of the disease are important. + +Treatment may help prevent, delay, or sometimes reverse complications of the disease. Treatment also may lead to better quality of life. + +For people who are diagnosed and treated early, a normal lifespan is possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.",NHLBI,Hemochromatosis +What causes Hemochromatosis ?,"The two types of hemochromatosis are primary and secondary. Each type has a different cause. + +Primary Hemochromatosis + +Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. This form of the disease sometimes is called hereditary or classical hemochromatosis. Primary hemochromatosis is more common than the secondary form of the disease. + +The genes usually involved in primary hemochromatosis are called HFE genes. Faulty HFE genes cause the body to absorb too much iron. If you inherit two copies of the faulty HFE gene (one from each parent), you're at risk for iron overload and signs and symptoms of hemochromatosis. + +If you inherit one faulty HFE gene and one normal HFE gene, you're a hemochromatosis ""carrier."" Carriers usually don't develop the disease. However, they can pass the faulty gene on to their children. Estimates suggest that about 1 in 10 people in the United States are hemochromatosis carriers. + +If two parents are carriers of the faulty HFE gene, then each of their children has a 1 in 4 chance of inheriting two faulty HFE genes. + +Although less common, other faulty genes also can cause hemochromatosis. Researchers continue to study what changes to normal genes may cause the disease. + +Secondary Hemochromatosis + +Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. Examples of such diseases and conditions include: + +Certain types of anemia, such as thalassemias and sideroblastic anemia + +Atransferrinemia and aceruloplasminemiaboth are rare, inherited diseases + +Chronic liver diseases, such as chronic hepatitis C infection, alcoholic liver disease, or nonalcoholic steatohepatitis + +Other factors also can cause secondary hemochromatosis, including: + +Blood transfusions + +Oral iron pills or iron injections, with or without very high vitamin C intake (vitamin C helps your body absorb iron) + +Long-term kidney dialysis",NHLBI,Hemochromatosis +Who is at risk for Hemochromatosis? ?,"Hemochromatosis is one of the most common genetic diseases in the United States. It's most common in Caucasians of Northern European descent. The disease is less common in African Americans, Hispanics, Asians, and American Indians. + +Primary hemochromatosis is more common in men than in women. Also, older people are more likely to develop the disease than younger people. In fact, signs and symptoms usually don't occur in men until they're 40 to 60 years old. + +In women, signs and symptoms usually don't occur until after the age of 50 (after menopause). Young children rarely develop hemochromatosis. + +Inheriting two faulty HFE genes (one from each parent) is the major risk factor for hemochromatosis. However, many people who have two copies of the faulty gene don't develop signs or symptoms of the disease. + +Alcoholism is another risk factor for hemochromatosis. A family history of certain diseases and conditions also puts you at higher risk for hemochromatosis. Examples of such diseases and conditions include heart attack, liver disease, diabetes, arthritis, and erectile dysfunction (impotence).",NHLBI,Hemochromatosis +What are the symptoms of Hemochromatosis ?,"Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. + +Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). In men, complications such as diabetes or cirrhosis (scarring of the liver) often are the first signs of the disease. + +Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain. + +Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms. + +Hemochromatosis Complications + +If hemochromatosis isn't found and treated early, iron builds up in your body and can lead to: + +Liver disease, including an enlarged liver, liver failure, liver cancer, or cirrhosis (scarring of the liver) + +Heart problems, including arrhythmias (irregular heartbeats) and heart failure + +Diabetes, especially in people who have a family history of diabetes + +Joint damage and pain, including arthritis + +Reproductive organ failure, such as erectile dysfunction (impotence), shrinkage of the testicles, and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women + +Changes in skin color that make the skin look gray or bronze + +Underactive pituitary and thyroid glands + +Damage to the adrenal glands",NHLBI,Hemochromatosis +How to diagnose Hemochromatosis ?,"Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. + +The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dysfunction (impotence). + +Specialists Involved + +Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including: + +Hematologists (blood disease specialists) + +Cardiologists (heart specialists) + +Endocrinologists (gland system specialists) + +Hepatologists (liver specialists) + +Gastroenterologists (digestive tract specialists) + +Rheumatologists (specialists in diseases of the joints and tissues) + +Medical and Family Histories + +To learn about your medical and family histories, your doctor may ask: + +About your signs and symptoms, including when they started and their severity. + +Whether you take iron (pills or injections) with or without vitamin C supplements (vitamin C helps your body absorb iron from food). If so, your doctor may ask how much iron you take. This information can help him or her diagnose secondary hemochromatosis. + +Whether other members of your family have hemochromatosis. + +Whether other members of your family have a history of medical problems or diseases related to hemochromatosis. + +Physical Exam + +Your doctor will do a physical exam to check for signs and symptoms of hemochromatosis. He or she will listen to your heart for irregular heartbeats and check for arthritis, abnormal skin color, and an enlarged liver. + +Diagnostic Tests and Procedures + +Your doctor may recommend one or more tests or procedures to diagnose hemochromatosis. + +Blood Tests + +In hemochromatosis, the amount of iron in your body may be too high, even though the level of iron in your blood is normal. Certain blood tests can help your doctor find out how much iron is in your body. + +During these tests, a sample of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort. + +The blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests. + +Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body. + +Your doctor may test your serum ferritin level if your TS level is high. A serum ferritin level test shows how much iron is stored in your body's organs. A buildup of iron may suggest hemochromatosis. + +You may have liver function tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you have hemochromatosis, liver function tests may show the severity of the disease. + +Blood tests alone can't diagnose hemochromatosis. Thus, your doctor may recommend other tests as well. + +Liver Biopsy + +During a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle. The tissue is then looked at under a microscope. + +A liver biopsy can show how much iron is in your liver. This procedure also can help your doctor diagnose liver damage (for example, scarring and cancer). Liver biopsies are less common now than in the past. + +Magnetic Resonance Imaging + +Magnetic resonance imaging (MRI) is a safe test that uses radio waves, magnets, and a computer to create pictures of your organs. An MRI may be done to show the amount of iron in your liver. + +Superconducting Quantum Interference Device + +A superconducting quantum interference device (SQuID) is a machine that uses very sensitive magnets to measure the amount of iron in your liver. This machine is available at only a few medical centers. + +Genetic Testing + +Genetic testing can show whether you have a faulty HFE gene or genes. However, even if you do have two faulty HFE genes, the genetic test can't predict whether you'll develop signs and symptoms of hemochromatosis. + +Also, genetic testing may not detect other, less common faulty genes that also can cause hemochromatosis. + +There are two ways to do genetic testing. Cells can be collected from inside your mouth using a cotton swab, or a sample of blood can be drawn from a vein in your arm. + +People who have hemochromatosis (or a family history of it) and are planning to have children may want to consider genetic testing and counseling. Testing will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children.",NHLBI,Hemochromatosis +What are the treatments for Hemochromatosis ?,"Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications. + +The goals of treating hemochromatosis include: + +Reducing the amount of iron in your body to normal levels + +Preventing or delaying organ damage from iron overload + +Treating complications of the disease + +Maintaining a normal amount of iron in your body for the rest of your life + +Therapeutic Phlebotomy + +Therapeutic phlebotomy is a procedure that removes blood (and iron) from your body. A needle is inserted into a vein, and your blood flows through an airtight tube into a sterile container or bag. + +The process is similar to donating blood; it can be done at blood donation centers, hospital donation centers, or a doctor's office. + +In the first stage of treatment, about 1 pint of blood is removed once or twice a week. After your iron levels return to normal, you may continue phlebotomy treatments. However, you may need them less oftentypically every 24 months. + +As long as treatment continues, which often is for the rest of your life, you'll need frequent blood tests to check your iron levels. + +Iron Chelation Therapy + +Iron chelation therapy uses medicine to remove excess iron from your body. This treatment is a good option for people who can't have routine blood removal. + +The medicine used in iron chelation therapy is either injected or taken orally (by mouth). Injected iron chelation therapy is done at a doctor's office. Oral iron chelation therapy can be done at home. + +Dietary Changes + +Your doctor may suggest that you change your diet if you have hemochromatosis. You may be advised to: + +Avoid taking iron, including iron pills, iron injections, or multivitamins that contain iron. + +Limit your intake of vitamin C. Vitamin C helps your body absorb iron from food. Talk with your doctor about how much vitamin C is safe for you. + +Avoid uncooked fish and shellfish. Some fish and shellfish contain bacteria that can cause infections in people who have chronic diseases, such as hemochromatosis. + +Limit alcohol intake. Drinking alcohol increases the risk of liver disease. It also can make existing liver disease worse. + +Treatment for Complications + +Your doctor may prescribe other treatments as needed for complications such as liver disease, heart problems, or diabetes.",NHLBI,Hemochromatosis +How to prevent Hemochromatosis ?,"You can't prevent primary, or inherited, hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. In those who do, treatments can keep the disease from getting worse. + +Treatments include therapeutic phlebotomy, iron chelation therapy, dietary changes, and other treatments. For more information, go to ""How Is Hemochromatosis Treated?"" + +People who have hemochromatosis (or a family history of it) and are planning to have children may want to consider genetic testing and counseling. Testing will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children.",NHLBI,Hemochromatosis +What is (are) Hemolytic Anemia ?,"Hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) is a condition in which red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. + +Red blood cells are disc-shaped and look like doughnuts without holes in the center. These cells carry oxygen to your body. They also remove carbon dioxide (a waste product) from your body. + +Red blood cells are made in the bone marrowa sponge-like tissue inside the bones. They live for about 120 days in the bloodstream and then die. + +White blood cells and platelets (PLATE-lets) also are made in the bone marrow. White blood cells help fight infections. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. + +When blood cells die, the body's bone marrow makes more blood cells to replace them. However, in hemolytic anemia, the bone marrow can't make red blood cells fast enough to meet the body's needs. + +Hemolytic anemia can lead to many health problems, such as fatigue (tiredness), pain, irregular heartbeats called arrhythmias (ah-RITH-me-ahs), an enlarged heart, and heart failure. + +Overview + +Hemolytic anemia is a type of anemia. The term ""anemia"" usually refers to a condition in which the blood has a lower than normal number of red blood cells. + +Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen from the lungs to the rest of the body. + +Anemia has three main causes: blood loss, lack of red blood cell production, or high rates of red blood cell destruction. + +Hemolytic anemia is caused by high rates of red blood cell destruction. Many diseases, conditions, and factors can cause the body to destroy its red blood cells. + +These causes can be inherited or acquired. ""Inherited"" means your parents passed the gene(s) for the condition on to you. ""Acquired"" means you aren't born with the condition, but you develop it. Sometimes the cause of hemolytic anemia isn't known. + +Outlook + +There are many types of hemolytic anemia. Treatment and outlook depend on what type you have and how severe it is. The condition can develop suddenly or slowly. Symptoms can range from mild to severe. + +Hemolytic anemia often can be successfully treated or controlled. Mild hemolytic anemia may need no treatment at all. Severe hemolytic anemia requires prompt and proper treatment, or it may be fatal. + +Inherited forms of hemolytic anemia are lifelong conditions that may require ongoing treatment. Acquired forms of hemolytic anemia may go away if the cause of the condition is found and corrected.",NHLBI,Hemolytic Anemia +What causes Hemolytic Anemia ?,"The immediate cause of hemolytic anemia is the early destruction of red blood cells. This means that red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. + +Many diseases, conditions, and factors can cause the body to destroy its red blood cells. These causes can be inherited or acquired. ""Inherited"" means your parents passed the gene for the condition on to you. ""Acquired"" means you aren't born with the condition, but you develop it. + +Sometimes, the cause of hemolytic anemia isn't known. + +For more information about the specific causes of hemolytic anemia, go to ""Types of Hemolytic Anemia."" + +Inherited Hemolytic Anemias + +In inherited hemolytic anemias, the genes that control how red blood cells are made are faulty. You can get a faulty red blood cell gene from one or both of your parents. + +Different types of faulty genes cause different types of inherited hemolytic anemia. However, in each type, the body makes abnormal red blood cells. The problem with the red blood cells may involve the hemoglobin, cell membrane, or enzymes that maintain healthy red blood cells. + +The abnormal cells may be fragile and break down while moving through the bloodstream. If this happens, an organ called the spleen may remove the cell debris from the bloodstream. + +Acquired Hemolytic Anemias + +In acquired hemolytic anemias, the body makes normal red blood cells. However, a disease, condition, or other factor destroys the cells. Examples of conditions that can destroy the red blood cells include: + +Immune disorders + +Infections + +Reactions to medicines or blood transfusions + +Hypersplenism (HI-per-SPLEEN-izm; an enlarged spleen)",NHLBI,Hemolytic Anemia +Who is at risk for Hemolytic Anemia? ?,"Hemolytic anemia can affect people of all ages and races and both sexes. Some types of hemolytic anemia are more likely to occur in certain populations than others. + +For example, glucose-6-phosphate dehydrogenase (G6PD) deficiency mostly affects males of African or Mediterranean descent. In the United States, the condition is more common among African Americans than Caucasians. + +In the United States, sickle cell anemia mainly affects African Americans.",NHLBI,Hemolytic Anemia +What are the symptoms of Hemolytic Anemia ?,"The signs and symptoms of hemolytic anemia will depend on the type and severity of the disease. + +People who have mild hemolytic anemia often have no signs or symptoms. More severe hemolytic anemia may cause many signs and symptoms, and they may be serious. + +Many of the signs and symptoms of hemolytic anemia apply to all types of anemia. + +Signs and Symptoms of Anemia + +The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. + +A low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale skin, and chest pain. + +A lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to arrhythmias (irregular heartbeats), a heart murmur, an enlarged heart, or even heart failure. + +Signs and Symptoms of Hemolytic Anemia + +Jaundice + +Jaundice refers to a yellowish color of the skin or whites of the eyes. When red blood cells die, they release hemoglobin into the bloodstream. + +The hemoglobin is broken down into a compound called bilirubin, which gives the skin and eyes a yellowish color. Bilirubin also causes urine to be dark yellow or brown. + +Pain in the Upper Abdomen + +Gallstones or an enlarged spleen may cause pain in the upper abdomen. High levels of bilirubin and cholesterol (from the breakdown of red blood cells) can form into stones in the gallbladder. These stones can be painful. + +The spleen is an organ in the abdomen that helps fight infection and filters out old or damaged blood cells. In hemolytic anemia, the spleen may be enlarged, which can be painful. + +Leg Ulcers and Pain + +In people who have sickle cell anemia, the sickle-shaped cells can clog small blood vessels and block blood flow. This can cause leg sores and pain throughout the body. + +A Severe Reaction to a Blood Transfusion + +You may develop hemolytic anemia due to a blood transfusion. This can happen if the transfused blood is a different blood type than your blood. + +Signs and symptoms of a severe reaction to a transfusion include fever, chills, low blood pressure, and shock. (Shock is a life-threatening condition that occurs if the body isn't getting enough blood flow.)",NHLBI,Hemolytic Anemia +How to diagnose Hemolytic Anemia ?,"Your doctor will diagnose hemolytic anemia based on your medical and family histories, a physical exam, and test results. + +Specialists Involved + +Primary care doctors, such as a family doctor or pediatrician, may help diagnose and treat hemolytic anemia. Your primary care doctor also may refer you to a hematologist. This is a doctor who specializes in diagnosing and treating blood diseases and disorders. + +Doctors and clinics that specialize in treating inherited blood disorders, such as sickle cell anemia and thalassemias, also may be involved. + +If your hemolytic anemia is inherited, you may want to consult a genetic counselor. A counselor can help you understand your risk of having a child who has the condition. He or she also can explain the choices that are available to you. + +Medical and Family Histories + +To find the cause and severity of hemolytic anemia, your doctor may ask detailed questions about your symptoms, personal medical history, and your family medical history. + +He or she may ask whether: + +You or anyone in your family has had problems with anemia + +You've recently had any illnesses or medical conditions + +You take any medicines, and which ones + +You've been exposed to certain chemicals or substances + +You have an artificial heart valve or other medical device that could damage your red blood cells + +Physical Exam + +Your doctor will do a physical exam to check for signs of hemolytic anemia. He or she will try to find out how severe the condition is and what's causing it. + +The exam may include: + +Checking for jaundice (a yellowish color of the skin or whites of the eyes) + +Listening to your heart for rapid or irregular heartbeats + +Listening for rapid or uneven breathing + +Feeling your abdomen to check the size of your spleen + +Doing a pelvic and rectal exam to check for internal bleeding + +Diagnostic Tests and Procedures + +Many tests are used to diagnose hemolytic anemia. These tests can help confirm a diagnosis, look for a cause, and find out how severe the condition is. + +Complete Blood Count + +Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. + +This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. + +The normal range of these levels may vary in certain racial and ethnic populations. Your doctor can explain your test results to you. + +The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of hemolytic anemia, a different blood disorder, an infection, or another condition. + +Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. + +Other Blood Tests + +If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have and how severe it is. + +Reticulocyte count. A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. + +People who have hemolytic anemia usually have high reticulocyte counts because their bone marrow is working hard to replace the destroyed red blood cells. + +Peripheral smear. For this test, your doctor will look at your red blood cells through a microscope. Some types of hemolytic anemia change the normal shape of red blood cells. + +Coombs' test. This test can show whether your body is making antibodies (proteins) to destroy red blood cells. + +Haptoglobin, bilirubin, and liver function tests. When red blood cells break down, they release hemoglobin into the bloodstream. The hemoglobin combines with a chemical called haptoglobin. A low level of haptoglobin in the bloodstream is a sign of hemolytic anemia. + +Hemoglobin is broken down into a compound called bilirubin. High levels of bilirubin in the bloodstream may be a sign of hemolytic anemia. High levels of this compound also occur with some liver and gallbladder diseases. Thus, you may need liver function tests to find out what's causing the high bilirubin levels. + +Hemoglobin electrophoresis. This test looks at the different types of hemoglobin in your blood. It can help diagnose the type of anemia you have. + +Testing for paroxysmal nocturnal hemoglobinuria (PNH). In PNH, the red blood cells are missing certain proteins. The test for PNH can detect red blood cells that are missing these proteins. + +Osmotic fragility test. This test looks for red blood cells that are more fragile than normal. These cells may be a sign of hereditary spherocytosis (an inherited type of hemolytic anemia). + +Testing for glucose-6-phosphate dehydrogenase (G6PD) deficiency. In G6PD deficiency, the red blood cells are missing an important enzyme called G6PD. The test for G6PD deficiency looks for this enzyme in a sample of blood. + +Urine Test + +A urine test will look for the presence of free hemoglobin (a protein that carries oxygen in the blood) and iron. + +Bone Marrow Tests + +Bone marrow tests show whether your bone marrow is healthy and making enough blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. + +For a bone marrow aspiration, your doctor removes a small amount of fluid bone marrow through a needle. The sample is examined under a microscope to check for faulty cells. + +A bone marrow biopsy may be done at the same time as an aspiration or afterward. For this test, your doctor removes a small amount of bone marrow tissue through a needle. The tissue is examined to check the number and type of cells in the bone marrow. + +You may not need bone marrow tests if blood tests show what's causing your hemolytic anemia. + +Tests for Other Causes of Anemia + +Because anemia has many causes, you may have tests for conditions such as: + +Kidney failure + +Lead poisoning + +Vitamin or iron deficiency + +Newborn Testing for Sickle Cell Anemia and G6PD Deficiency + +All States mandate screening for sickle cell anemia as part of their newborn screening programs. Some States also mandate screening for G6PD deficiency. These inherited types of hemolytic anemia can be detected with routine blood tests. + +Diagnosing these conditions as early as possible is important so that children can get proper treatment.",NHLBI,Hemolytic Anemia +What are the treatments for Hemolytic Anemia ?,"Treatments for hemolytic anemia include blood transfusions, medicines, plasmapheresis (PLAZ-meh-feh-RE-sis), surgery, blood and marrow stem cell transplants, and lifestyle changes. + +People who have mild hemolytic anemia may not need treatment, as long as the condition doesn't worsen. People who have severe hemolytic anemia usually need ongoing treatment. Severe hemolytic anemia can be fatal if it's not properly treated. + +Goals of Treatment + +The goals of treating hemolytic anemia include: + +Reducing or stopping the destruction of red blood cells + +Increasing the red blood cell count to an acceptable level + +Treating the underlying cause of the condition + +Treatment will depend on the type, cause, and severity of the hemolytic anemia you have. Your doctor also will consider your age, overall health, and medical history. + +If you have an inherited form of hemolytic anemia, it's a lifelong condition that may require ongoing treatment. If you have an acquired form of hemolytic anemia, it may go away if its cause can be found and corrected. + +Blood Transfusions + +Blood transfusions are used to treat severe or life-threatening hemolytic anemia. + +A blood transfusion is a common procedure in which blood is given to you through an intravenous (IV) line in one of your blood vessels. Transfusions require careful matching of donated blood with the recipient's blood. + +For more information, go to the Health Topics Blood Transfusion article. + +Medicines + +Medicines can improve some types of hemolytic anemia, especially autoimmune hemolytic anemia (AIHA). Corticosteroid medicines, such as prednisone, can stop your immune system from, or limit its ability to, make antibodies (proteins) against red blood cells. + +If you don't respond to corticosteroids, your doctor may prescribe other medicines to suppress your immune system. Examples include the medicines rituximab and cyclosporine. + +If you have severe sickle cell anemia, your doctor may recommend a medicine called hydroxyurea. This medicine prompts your body to make fetal hemoglobin. Fetal hemoglobin is the type of hemoglobin that newborns have. + +In people who have sickle cell anemia, fetal hemoglobin helps prevent red blood cells from sickling and improves anemia. + +Plasmapheresis + +Plasmapheresis is a procedure that removes antibodies from the blood. For this procedure, blood is taken from your body using a needle inserted into a vein. + +The plasma, which contains the antibodies, is separated from the rest of the blood. Then, plasma from a donor and the rest of the blood is put back in your body. + +This treatment may help if other treatments for immune hemolytic anemia don't work. + +Surgery + +Some people who have hemolytic anemia may need surgery to remove their spleens. The spleen is an organ in the abdomen. A healthy spleen helps fight infection and filters out old or damaged blood cells. + +An enlarged or diseased spleen may remove more red blood cells than normal, causing anemia. Removing the spleen can stop or reduce high rates of red blood cell destruction. + +Blood and Marrow Stem Cell Transplant + +In some types of hemolytic anemia, such as thalassemias, the bone marrow doesn't make enough healthy red blood cells. The red blood cells it does make may be destroyed before their normal lifespan is over. Blood and marrow stem cell transplants may be used to treat these types of hemolytic anemia. + +A blood and marrow stem cell transplant replaces damaged stem cells with healthy ones from another person (a donor). + +During the transplant, which is like a blood transfusion, you get donated stem cells through a tube placed in a vein. Once the stem cells are in your body, they travel to your bone marrow and begin making new blood cells. + +For more information, go to the Health Topics Blood and Marrow Stem Cell Transplant article. + +Lifestyle Changes + +If you have AIHA with cold-reactive antibodies, try to avoid cold temperatures. This can help prevent the breakdown of red blood cells. It's very important to protect your fingers, toes, and ears from the cold. + +To protect yourself, you can: + +Wear gloves or mittens when taking food out of the refrigerator or freezer. + +Wear a hat, scarf, and a coat with snug cuffs during cold weather. + +Turn down air conditioning or dress warmly while in air-conditioned spaces. + +Warm up the car before driving in cold weather. + +People born with glucose-6-phosphate dehydrogenase (G6PD) deficiency can avoid substances that may trigger anemia. For example, avoid fava beans, naphthalene (a substance found in some moth balls), and certain medicines (as your doctor advises).",NHLBI,Hemolytic Anemia +How to prevent Hemolytic Anemia ?,"You can't prevent inherited types of hemolytic anemia. One exception is glucose-6-phosphate dehydrogenase (G6PD) deficiency. + +If you're born with G6PD deficiency, you can avoid substances that may trigger the condition. For example, avoid fava beans, naphthalene (a substance found in some moth balls), and certain medicines (as your doctor advises). + +Some types of acquired hemolytic anemia can be prevented. For example, reactions to blood transfusions, which can cause hemolytic anemia, can be prevented. This requires careful matching of blood types between the blood donor and the recipient. + +Prompt and proper prenatal care can help you avoid the problems of Rh incompatibility. This condition can occur during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood. ""Rh-negative"" and ""Rh-positive"" refer to whether your blood has Rh factor. Rh factor is a protein on red blood cells. + +Rh incompatibility can lead to hemolytic anemia in a fetus or newborn.",NHLBI,Hemolytic Anemia +What is (are) Hypersensitivity Pneumonitis ?,"Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens). + +People are exposed to antigens at home, while at work, and in other settings. However, most people who breathe in these substances don't develop HP. + +Overview + +To understand HP, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). + +Small blood vessels called capillaries run through the walls of the air sacs. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. The capillaries connect to a network of arteries and veins that move blood through your body. + +In HP, the air sacs become inflamed and may fill with fluid. This makes it harder for oxygen to pass through the air sacs and into the bloodstream. + +The two main types of HP are acute (short-term) and chronic (ongoing). Both types can develop as a result of repeatedly breathing in an antigen. + +Over time, your lungs can become sensitive to that antigen. If this happens, they'll become inflamed, which can lead to symptoms and may even cause long-term lung damage. + +With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away. + +If acute HP isn't found and treated early, chronic HP may develop. Symptoms of chronic HP occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. Severe HP may cause clubbing (a widening and rounding of the tips of the fingers or toes). + +With chronic HP, symptoms may continue and/or worsen, even after avoiding the antigen. Sometimes, chronic HP can cause long-term lung damage, such as pulmonary fibrosis (PULL-mun-ary fi-BRO-sis). This is a condition in which tissue deep in your lungs becomes scarred over time. + +Outlook + +Avoiding or reducing your contact with antigens can help prevent and treat HP. For example, cleaning heating and ventilation filters can help reduce your contact with mold. Wetting compost prior to handling it can reduce contact with harmful dust. + +If HP is caught early, avoiding the antigen that caused it may be the only treatment you need. If you have chronic HP, your doctor may prescribe medicines to reduce lung inflammation. + +Researchers continue to study why some people develop HP after being exposed to antigens, while others don't. They're also looking for better ways to quickly pinpoint which antigens are causing HP in people who are believed to have the disease.",NHLBI,Hypersensitivity Pneumonitis +What causes Hypersensitivity Pneumonitis ?,"Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens. + +Over time, your lungs can become sensitive to antigens. If this happens, your lungs will become inflamed, which can lead to symptoms and may even cause long-term lung damage. + +Antigens may be found in the home, workplace, or in other settings. Antigens can come from many sources, such as: + +Bird droppings + +Humidifiers, heating systems, and hot tubs + +Liquid chemicals used in the landscaping and florist industries + +Moldy hay, straw, and grain + +Chemicals released during the production of plastics and electronics, and chemicals released during painting + +Mold released during lumber milling, construction, and wood stripping",NHLBI,Hypersensitivity Pneumonitis +Who is at risk for Hypersensitivity Pneumonitis? ?,"People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP. + +People at increased risk include: + +Farm and dairy cattle workers + +People who use hot tubs often + +People who are exposed to molds or dusts from humidifiers, heating systems, or wet carpeting + +Bird fanciers (people who keep pet birds) and poultry handlers + +Florists and landscapers, especially those who use liquid chemicals on lawns and gardens + +People who work in grain and flour processing and loading + +Lumber milling, construction, wood stripping, and paper and wallboard workers + +People who make plastics or electronics, and those who paint or work with other chemicals",NHLBI,Hypersensitivity Pneumonitis +What are the symptoms of Hypersensitivity Pneumonitis ?,"Signs and symptoms of hypersensitivity pneumonitis (HP) depend on whether the disease is acute (short-term) or chronic (ongoing). + +Acute Hypersensitivity Pneumonitis + +With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) + +Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away. + +Chronic Hypersensitivity Pneumonitis + +If acute HP isn't found and treated early, chronic HP may develop. With chronic HP, symptoms occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. + +Some symptoms may continue and/or worsen, even after avoiding the antigen. Chronic HP can cause long-term lung damage, such as pulmonary fibrosis. This is a condition in which tissue deep in your lungs becomes scarred over time. + +Clubbing also may occur if HP is severe. Clubbing is the widening and rounding of the tips of the fingers or toes. A low level of oxygen in the blood causes this condition.",NHLBI,Hypersensitivity Pneumonitis +How to diagnose Hypersensitivity Pneumonitis ?,"To diagnose hypersensitivity pneumonitis (HP), your doctor must pinpoint the antigen that's causing the disease and its source. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) + +Your doctor will ask you detailed questions about: + +Your current and past jobs + +Your hobbies and leisure activities + +The types of places where you spend time + +Your exposure to damp and moldy places + +Your doctor also will do a physical exam and look at test results to diagnose HP. + +Physical Exam + +During the physical exam, your doctor will ask about your signs and symptoms, such as coughing and weight loss. Your doctor also will look for signs of HP. For example, he or she will listen to your lungs with a stethoscope for abnormal breathing sounds. HP can cause a crackling sound when you breathe. + +Your doctor also may look for signs of pulmonary fibrosis, a possible complication of chronic (ongoing) HP. Pulmonary fibrosis is a condition in which tissue deep in your lungs becomes scarred over time. + +Your doctor also may check for clubbing. Clubbing is the widening and rounding of the tips of the fingers or toes. A low level of oxygen in the blood causes this condition. + +Diagnostic Tests and Procedures + +To help diagnose HP, your doctor may recommend or more of the following tests or procedures. + +Chest X Ray or Chest Computed Tomography (CT) Scan + +A chest x ray and chest CT scan create pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. These pictures can show signs of HP. + +Lung Function Tests + +Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs can deliver oxygen to your blood. One of these tests is spirometry (spi-ROM-eh-tre). + +During this test, a technician will ask you to take a deep breath. Then, you'll blow as hard as you can into a tube connected to a small machine. The machine is called a spirometer. The machine measures how much air you breathe out. It also measures how fast you can blow air out. + +Pulse Oximetry + +This test measures the amount of oxygen in your blood. A small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. + +Precipitin Test + +This blood test looks for antibodies (proteins) that your body creates in response to antigens. The presence of these proteins may suggest HP. + +Challenge Test + +During this test, you're re-exposed to the suspected antigen. Then, you'll be watched for signs and symptoms of HP. + +Bronchoscopy + +For bronchoscopy (bron-KOS-ko-pee), your doctor passes a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. At the tip of the tube are a light and mini-camera. This allows your doctor to see your windpipe and airways. + +Your doctor may insert forceps (a device used to grab or hold things) through the tube to collect a tissue sample. You'll be given medicine to make you relaxed and sleepy during the procedure. + +Bronchoalveolar Lavage + +During bronchoscopy, your doctor may inject a small amount of salt water (saline) through the tube into your lungs. This method is called bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH). + +This fluid washes the lungs and helps bring up cells from the airways and the area around the air sacs. Your doctor will look at these cells under a microscope. + +Surgical Lung Biopsy + +To confirm a diagnosis of HP, your doctor may do a surgical lung biopsy. Your doctor can use a biopsy to rule out other causes of symptoms and check the condition of your lungs. + +For a surgical lung biopsy, your doctor takes samples of lung tissue from several places in your lungs. He or she then looks at them under a microscope. Your doctor may use one of the following methods to get lung tissue samples. + +Video-assisted thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, your doctor inserts a small, lighted tube with a camera (endoscope) into your chest through small cuts between your ribs. + +The endoscope provides a video image of your lungs and allows your doctor to collect tissue samples. This procedure is done in a hospital. You'll be given medicine to help you sleep through the procedure. + +Thoracotomy (thor-ah-KOT-o-me). For this procedure, your doctor removes a few small pieces of lung tissue through a cut in the chest wall between your ribs. Thoracotomy is done in a hospital. You'll be given medicine to help you sleep through the procedure.",NHLBI,Hypersensitivity Pneumonitis +What are the treatments for Hypersensitivity Pneumonitis ?,"The best way to treat hypersensitivity pneumonitis (HP) is to avoid the antigen that caused it. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) + +In acute (short-term) HP, symptoms usually go away once you're no longer in contact with the antigen. In chronic (ongoing) HP, you may need medicines to relieve your symptoms. + +People who have chronic HP may develop pulmonary fibrosis. This is a condition in which tissue deep in your lungs becomes scarred over time. People who have this condition may need further treatment, such as oxygen therapy and pulmonary rehabilitation (rehab). + +Avoiding Antigens + +Once the antigen that caused the HP and its source are found, you can take steps to avoid it. If HP is caught early, avoiding the antigen may be the only treatment you need. + +Avoiding an antigen may be easier at home than at work. For example, if your pet bird, moldy carpet, or hot tub is the source of the antigen, you can remove it from your home. If your heating system is the source of the antigen, you can have your system properly serviced. + +However, if the antigen is at work, you may need to talk with your supervisor about your condition and ways to protect yourself. For example, masks or personal respirators may help protect you from antigens in the air. (A personal respirator is a device that helps filter the air you breathe in.) + +Some people who have HP may need to move to a different home or change jobs to avoid antigens. After hurricanes, for example, some people have to move from their homes to avoid molds that could harm their lungs. However, moving and changing jobs sometimes isn't possible. + +Medicines and Other Treatments + +If you have chronic HP, your doctor may prescribe medicines called corticosteroids. These medicines reduce lung inflammation. Prednisone is an example of a corticosteroid. + +Long-term use of prednisone, especially at high doses, can cause serious side effects. Thus, if your doctor prescribes this medicine, he or she may reduce the dose over time. + +Examples of side effects from corticosteroids are increased risk of infections, high blood pressure, high blood sugar, and osteoporosis (thinning of the skin and bones). + +People who develop pulmonary fibrosis may need medicines, oxygen therapy, and/or pulmonary rehab. Pulmonary fibrosis is a condition in which tissue deep in your lungs becomes scarred over time. + +If you smoke, try to quit. Smoking can make HP symptoms worse and lead to other lung diseases. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.",NHLBI,Hypersensitivity Pneumonitis +What is (are) Cardiogenic Shock ?,"Cardiogenic (kar-dee-oh-JE-nik) shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. The condition is a medical emergency and is fatal if not treated right away. + +The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. However, not everyone who has a heart attack has cardiogenic shock. In fact, on average, only about 7 percent of people who have heart attacks develop the condition. + +If cardiogenic shock does occur, it's very dangerous. When people die from heart attacks in hospitals, cardiogenic shock is the most common cause of death. + +What Is Shock? + +The medical term ""shock"" refers to a state in which not enough blood and oxygen reach important organs in the body, such as the brain and kidneys. Shock causes very low blood pressure and may be life threatening. + +Shock can have many causes. Cardiogenic shock is only one type of shock. Other types of shock include hypovolemic (hy-po-vo-LEE-mik) shock and vasodilatory (VAZ-oh-DILE-ah-tor-e) shock. + +Hypovolemic shock is a condition in which the heart cant pump enough blood to the body because of severe blood loss. + +In vasodilatory shock, the blood vessels suddenly relax. When the blood vessels are too relaxed, blood pressure drops and blood flow becomes very low. Without enough blood pressure, blood and oxygen dont reach the bodys organs. + +A bacterial infection in the bloodstream, a severe allergic reaction, or damage to the nervous system (brain and nerves) may cause vasodilatory shock. + +When a person is in shock (from any cause), not enough blood and oxygen are reaching the body's organs. If shock lasts more than a few minutes, the lack of oxygen starts to damage the bodys organs. If shock isn't treated quickly, it can cause permanent organ damage or death. + +Some of the signs and symptoms of shock include: + +Confusion or lack of alertness + +Loss of consciousness + +A sudden and ongoing rapid heartbeat + +Sweating + +Pale skin + +A weak pulse + +Rapid breathing + +Decreased or no urine output + +Cool hands and feet + +If you think that you or someone else is in shock, call 911 right away for emergency treatment. Prompt medical care can save your life and prevent or limit damage to your bodys organs. + +Outlook + +In the past, almost no one survived cardiogenic shock. Now, about half of the people who go into cardiogenic shock survive. This is because of prompt recognition of symptoms and improved treatments, such as medicines and devices. These treatments can restore blood flow to the heart and help the heart pump better. + +In some cases, devices that take over the pumping function of the heart are used. Implanting these devices requires major surgery.",NHLBI,Cardiogenic Shock +What causes Cardiogenic Shock ?,"Immediate Causes + +Cardiogenic shock occurs if the heart suddenly can't pump enough oxygen-rich blood to the body. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. + +This damage prevents the hearts main pumping chamber, the left ventricle (VEN-trih-kul), from working well. As a result, the heart can't pump enough oxygen-rich blood to the rest of the body. + +In about 3 percent of cardiogenic shock cases, the hearts lower right chamber, the right ventricle, doesnt work well. This means the heart can't properly pump blood to the lungs, where it picks up oxygen to bring back to the heart and the rest of the body. + +Without enough oxygen-rich blood reaching the bodys major organs, many problems can occur. For example: + +Cardiogenic shock can cause death if the flow of oxygen-rich blood to the organs isn't restored quickly. This is why emergency medical treatment is required. + +If organs don't get enough oxygen-rich blood, they won't work well. Cells in the organs die, and the organs may never work well again. + +As some organs stop working, they may cause problems with other bodily functions. This, in turn, can worsen shock. For example: - If the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more. - If the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss. + +If the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more. + +If the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss. + +How well the brain, kidneys, and other organs recover will depend on how long a person is in shock. The less time a person is in shock, the less damage will occur to the organs. This is another reason why emergency treatment is so important. + +Underlying Causes + +The underlying causes of cardiogenic shock are conditions that weaken the heart and prevent it from pumping enough oxygen-rich blood to the body. + +Heart Attack + +Most heart attacks occur as a result of coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) narrows or blocks the coronary (heart) arteries. + +Plaque reduces blood flow to your heart muscle. It also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. + +Conditions Caused by Heart Attack + +Heart attacks can cause some serious heart conditions that can lead to cardiogenic shock. One example is ventricular septal rupture. This condition occurs if the wall that separates the ventricles (the hearts two lower chambers) breaks down. + +The breakdown happens because cells in the wall have died due to a heart attack. Without the wall to separate them, the ventricles cant pump properly. + +Heart attacks also can cause papillary muscle infarction or rupture. This condition occurs if the muscles that help anchor the heart valves stop working or break because a heart attack cuts off their blood supply. If this happens, blood doesn't flow correctly between the hearts chambers. This prevents the heart from pumping properly. + +Other Heart Conditions + +Serious heart conditions that may occur with or without a heart attack can cause cardiogenic shock. Examples include: + +Myocarditis (MI-o-kar-DI-tis). This is inflammation of the heart muscle. + +Endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of the heart chambers and valves. + +Life-threatening arrhythmias (ah-RITH-me-ahs). These are problems with the rate or rhythm of the heartbeat. + +Pericardial tamponade (per-ih-KAR-de-al tam-po-NADE). This is too much fluid or blood around the heart. The fluid squeezes the heart muscle so it can't pump properly. + +Pulmonary Embolism + +Pulmonary embolism (PE) is a sudden blockage in a lung artery. This condition usually is caused by a blood clot that travels to the lung from a vein in the leg. PE can damage your heart and other organs in your body.",NHLBI,Cardiogenic Shock +Who is at risk for Cardiogenic Shock? ?,"The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock: + +Older age + +A history of heart attacks or heart failure + +Coronary heart disease that affects all of the hearts major blood vessels + +High blood pressure + +Diabetes + +Women who have heart attacks are at higher risk for cardiogenic shock than men who have heart attacks.",NHLBI,Cardiogenic Shock +What are the symptoms of Cardiogenic Shock ?,"A lack of oxygen-rich blood reaching the brain, kidneys, skin, and other parts of the body causes the signs and symptoms of cardiogenic shock. + +Some of the typical signs and symptoms of shock usually include at least two or more of the following: + +Confusion or lack of alertness + +Loss of consciousness + +A sudden and ongoing rapid heartbeat + +Sweating + +Pale skin + +A weak pulse + +Rapid breathing + +Decreased or no urine output + +Cool hands and feet + +Any of these alone is unlikely to be a sign or symptom of shock. + +If you or someone else is having these signs and symptoms, call 911 right away for emergency treatment. Prompt medical care can save your life and prevent or limit organ damage.",NHLBI,Cardiogenic Shock +How to diagnose Cardiogenic Shock ?,"The first step in diagnosing cardiogenic shock is to identify that a person is in shock. At that point, emergency treatment should begin. + +Once emergency treatment starts, doctors can look for the specific cause of the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock. + +Tests and Procedures To Diagnose Shock and Its Underlying Causes + +Blood Pressure Test + +Medical personnel can use a simple blood pressure cuff and stethoscope to check whether a person has very low blood pressure. This is the most common sign of shock. A blood pressure test can be done before the person goes to a hospital. + +Less serious conditions also can cause low blood pressure, such as fainting or taking certain medicines, such as those used to treat high blood pressure. + +EKG (Electrocardiogram) + +An EKG is a simple test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). + +An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. Doctors use EKGs to diagnose severe heart attacks and monitor the heart's condition. + +Echocardiography + +Echocardiography (echo) uses sound waves to create a moving picture of the heart. The test provides information about the size and shape of the heart and how well the heart chambers and valves are working. + +Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +Chest X Ray + +A chest x ray takes pictures of organs and structures in the chest, including the heart, lungs, and blood vessels. This test shows whether the heart is enlarged or whether fluid is present in the lungs. These can be signs of cardiogenic shock. + +Cardiac Enzyme Test + +When cells in the heart die, they release enzymes into the blood. These enzymes are called markers or biomarkers. Measuring these markers can show whether the heart is damaged and the extent of the damage. + +Coronary Angiography + +Coronary angiography (an-jee-OG-ra-fee) is an x-ray exam of the heart and blood vessels. The doctor passes a catheter (a thin, flexible tube) through an artery in the leg or arm to the heart. The catheter can measure the pressure inside the heart chambers. + +Dye that can be seen on an x-ray image is injected into the bloodstream through the tip of the catheter. The dye lets the doctor study the flow of blood through the heart and blood vessels and see any blockages. + +Pulmonary Artery Catheterization + +For this procedure, a catheter is inserted into a vein in the arm or neck or near the collarbone. Then, the catheter is moved into the pulmonary artery. This artery connects the right side of the heart to the lungs. + +The catheter is used to check blood pressure in the pulmonary artery. If the blood pressure is too high or too low, treatment may be needed. + +Blood Tests + +Some blood tests also are used to help diagnose cardiogenic shock, including: + +Arterial blood gas measurement. For this test, a blood sample is taken from an artery. The sample is used to measure oxygen, carbon dioxide, and pH (acidity) levels in the blood. Certain levels of these substances are associated with shock. + +Tests that measure the function of various organs, such as the kidneys and liver. If these organs aren't working well, they may not be getting enough oxygen-rich blood. This could be a sign of cardiogenic shock.",NHLBI,Cardiogenic Shock +What are the treatments for Cardiogenic Shock ?,"Cardiogenic shock is life threatening and requires emergency medical treatment. The condition usually is diagnosed after a person has been admitted to a hospital for a heart attack. If the person isn't already in a hospital, emergency treatment can start as soon as medical personnel arrive. + +The first goal of emergency treatment for cardiogenic shock is to improve the flow of blood and oxygen to the bodys organs. + +Sometimes both the shock and its cause are treated at the same time. For example, doctors may quickly open a blocked blood vessel that's damaging the heart. Often, this can get the patient out of shock with little or no additional treatment. + +Emergency Life Support + +Emergency life support treatment is needed for any type of shock. This treatment helps get oxygen-rich blood flowing to the brain, kidneys, and other organs. + +Restoring blood flow to the organs keeps the patient alive and may prevent long-term damage to the organs. Emergency life support treatment includes: + +Giving the patient extra oxygen to breathe so that more oxygen reaches the lungs, the heart, and the rest of the body. + +Providing breathing support if needed. A ventilator might be used to protect the airway and provide the patient with extra oxygen. A ventilator is a machine that supports breathing. + +Giving the patient fluids, including blood and blood products, through a needle inserted in a vein (when the shock is due to blood loss). This can help get more blood to major organs and the rest of the body. This treatment usually isnt used for cardiogenic shock because the heart can't pump the blood that's already in the body. Also, too much fluid is in the lungs, making it hard to breathe. + +Medicines + +During and after emergency life support treatment, doctors will try to find out whats causing the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock. + +Treatment for cardiogenic shock will depend on its cause. Doctors may prescribe medicines to: + +Prevent blood clots from forming + +Increase the force with which the heart muscle contracts + +Treat a heart attack + +Medical Devices + +Medical devices can help the heart pump and improve blood flow. Devices used to treat cardiogenic shock may include: + +An intra-aortic balloon pump. This device is placed in the aorta, the main blood vessel that carries blood from the heart to the body. A balloon at the tip of the device is inflated and deflated in a rhythm that matches the hearts pumping rhythm. This allows the weakened heart muscle to pump as much blood as it can, which helps get more blood to vital organs, such as the brain and kidneys. + +A left ventricular assist device (LVAD). This device is a battery-operated pump that takes over part of the hearts pumping action. An LVAD helps the heart pump blood to the body. This device may be used if damage to the left ventricle, the hearts main pumping chamber, is causing shock. + +Medical Procedures and Surgery + +Sometimes medicines and medical devices aren't enough to treat cardiogenic shock. + +Medical procedures and surgery can restore blood flow to the heart and the rest of the body, repair heart damage, and help keep a patient alive while he or she recovers from shock. + +Surgery also can improve the chances of long-term survival. Surgery done within 6 hours of the onset of shock symptoms has the greatest chance of improving survival. + +The types of procedures and surgery used to treat underlying causes of cardiogenic shock include: + +Percutaneous coronary intervention (PCI) and stents. PCI,also known as coronary angioplasty,is a procedure used to open narrowed or blocked coronary (heart) arteries and treat an ongoing heart attack. A stent is a small mesh tube that's placed in a coronary artery during PCI to help keep it open. + +Coronary artery bypass grafting. For this surgery, arteries or veins from other parts of the body are used to bypass (that is, go around) narrowed coronary arteries. This creates a new passage for oxygen-rich blood to reach the heart. + +Surgery to repair damaged heart valves. + +Surgery to repair a break in the wall that separates the hearts chambers. This break is called a septal rupture. + +Heart transplant. This type of surgery rarely is done during an emergency situation like cardiogenic shock because of other available options. Also, doctors need to do very careful testing to make sure a patient will benefit from a heart transplant and to find a matching heart from a donor. Still, in some cases, doctors may recommend a transplant if they feel it's the best way to improve a patient's chances of long-term survival.",NHLBI,Cardiogenic Shock +How to prevent Cardiogenic Shock ?,"The best way to prevent cardiogenic shock is to lower your risk for coronary heart disease (CHD) and heart attack. (For more information, go to the National Heart, Lung, and Blood Institute's ""Your Guide to a Healthy Heart."") + +If you already have CHD, its important to get ongoing treatment from a doctor who has experience treating heart problems. + +If you have a heart attack, you should get treatment right away to try to prevent cardiogenic shock and other possible complications. + +Act in time. Know the warning signs of a heart attack so you can act fast to get treatment. Many heart attack victims wait 2 hours or more after their symptoms begin before they seek medical help. Delays in treatment increase the risk of complications and death. + +If you think you're having a heart attack, call 911 for help. Don't drive yourself or have friends or family drive you to the hospital. Call an ambulance so that medical personnel can begin life-saving treatment on the way to the emergency room.",NHLBI,Cardiogenic Shock +What is (are) Aneurysm ?,"An aneurysm (AN-u-rism) is a balloon-like bulge in an artery. Arteries are blood vessels that carry oxygen-rich blood to your body. + +Arteries have thick walls to withstand normal blood pressure. However, certain medical problems, genetic conditions, and trauma can damage or injure artery walls. The force of blood pushing against the weakened or injured walls can cause an aneurysm. + +An aneurysm can grow large and rupture (burst) or dissect. A rupture causes dangerous bleeding inside the body. A dissection is a split in one or more layers of the artery wall. The split causes bleeding into and along the layers of the artery wall. + +Both rupture and dissection often are fatal. + +Overview + +Most aneurysms occur in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. The aorta goes through the chest and abdomen. + +An aneurysm that occurs in the chest portion of the aorta is called a thoracic (tho-RAS-ik) aortic aneurysm. An aneurysm that occurs in the abdominal portion of the aorta is called an abdominal aortic aneurysm. + +Aneurysms also can occur in other arteries, but these types of aneurysm are less common. This article focuses on aortic aneurysms. + +About 13,000 Americans die each year from aortic aneurysms. Most of the deaths result from rupture or dissection. + +Early diagnosis and treatment can help prevent rupture and dissection. However, aneurysms can develop and grow large before causing any symptoms. Thus, people who are at high risk for aneurysms can benefit from early, routine screening. + +Outlook + +Doctors often can successfully treat aortic aneurysms with medicines or surgery if theyre found in time. Medicines may be given to lower blood pressure, relax blood vessels, and reduce the risk of rupture. + +Large aortic aneurysms often can be repaired with surgery. During surgery, the weak or damaged portion of the aorta is replaced or reinforced.",NHLBI,Aneurysm +What causes Aneurysm ?,"The force of blood pushing against the walls of an artery combined with damage or injury to the arterys walls can cause an aneurysm. + +Many conditions and factors can damage and weaken the walls of the aorta and cause aortic aneurysms. Examples include aging, smoking, high blood pressure, and atherosclerosis (ath-er-o-skler-O-sis). Atherosclerosis is the hardening and narrowing of the arteries due to the buildup of a waxy substance called plaque (plak). + +Rarely, infectionssuch as untreated syphilis (a sexually transmitted infection)can cause aortic aneurysms. Aortic aneurysms also can occur as a result of diseases that inflame the blood vessels, such as vasculitis (vas-kyu-LI-tis). + +A family history of aneurysms also may play a role in causing aortic aneurysms. + +In addition to the factors above, certain genetic conditions may cause thoracic aortic aneurysms (TAAs). Examples of these conditions include Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome (the vascular type), and Turner syndrome. + +These genetic conditions can weaken the bodys connective tissues and damage the aorta. People who have these conditions tend to develop aneurysms at a younger age than other people. Theyre also at higher risk for rupture and dissection. + +Trauma, such as a car accident, also can damage the walls of the aorta and lead to TAAs. + +Researchers continue to look for other causes of aortic aneurysms. For example, theyre looking for genetic mutations (changes in the genes) that may contribute to or cause aneurysms.",NHLBI,Aneurysm +Who is at risk for Aneurysm? ?,"Certain factors put you at higher risk for an aortic aneurysm. These factors include: + +Male gender. Men are more likely than women to have aortic aneurysms. + +Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older. + +Smoking. Smoking can damage and weaken the walls of the aorta. + +A family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65. + +A history of aneurysms in the arteries of the legs. + +Certain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis. + +Having a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three. + +Car accidents or trauma also can injure the arteries and increase the risk for aneurysms. + +If you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.",NHLBI,Aneurysm +What are the symptoms of Aneurysm ?,"The signs and symptoms of an aortic aneurysm depend on the type and location of the aneurysm. Signs and symptoms also depend on whether the aneurysm has ruptured (burst) or is affecting other parts of the body. + +Aneurysms can develop and grow for years without causing any signs or symptoms. They often don't cause signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. + +Abdominal Aortic Aneurysms + +Most abdominal aortic aneurysms (AAAs) develop slowly over years. They often don't cause signs or symptoms unless they rupture. If you have an AAA, your doctor may feel a throbbing mass while checking your abdomen. + +When symptoms are present, they can include: + +A throbbing feeling in the abdomen + +Deep pain in your back or the side of your abdomen + +Steady, gnawing pain in your abdomen that lasts for hours or days + +If an AAA ruptures, symptoms may include sudden, severe pain in your lower abdomen and back; nausea (feeling sick to your stomach) and vomiting; constipation and problems with urination; clammy, sweaty skin; light-headedness; and a rapid heart rate when standing up. + +Internal bleeding from a ruptured AAA can send you into shock. Shock is a life-threatening condition in which blood pressure drops so low that the brain, kidneys, and other vital organs can't get enough blood to work well. Shock can be fatal if its not treated right away. + +Thoracic Aortic Aneurysms + +A thoracic aortic aneurysm (TAA) may not cause symptoms until it dissects or grows large. If you have symptoms, they may include: + +Pain in your jaw, neck, back, or chest + +Coughing and/or hoarseness + +Shortness of breath and/or trouble breathing or swallowing + +A dissection is a split in one or more layers of the artery wall. The split causes bleeding into and along the layers of the artery wall. + +If a TAA ruptures or dissects, you may feel sudden, severe, sharp or stabbing pain starting in your upper back and moving down into your abdomen. You may have pain in your chest and arms, and you can quickly go into shock. + +If you have any symptoms of TAA or aortic dissection, call 911. If left untreated, these conditions may lead to organ damage or death.",NHLBI,Aneurysm +How to diagnose Aneurysm ?,"If you have an aortic aneurysm but no symptoms, your doctor may find it by chance during a routine physical exam. More often, doctors find aneurysms during tests done for other reasons, such as chest or abdominal pain. + +If you have an abdominal aortic aneurysm (AAA), your doctor may feel a throbbing mass in your abdomen. A rapidly growing aneurysm about to rupture (burst) can be tender and very painful when pressed. If you're overweight or obese, it may be hard for your doctor to feel even a large AAA. + +If you have an AAA, your doctor may hear rushing blood flow instead of the normal whooshing sound when listening to your abdomen with a stethoscope. + +Specialists Involved + +Your primary care doctor may refer you to a cardiothoracic or vascular surgeon for diagnosis and treatment of an aortic aneurysm. + +A cardiothoracic surgeon does surgery on the heart, lungs, and other organs and structures in the chest, including the aorta. A vascular surgeon does surgery on the aorta and other blood vessels, except those of the heart and brain. + +Diagnostic Tests and Procedures + +To diagnose and study an aneurysm, your doctor may recommend one or more of the following tests. + +Ultrasound and Echocardiography + +Ultrasound and echocardiography (echo) are simple, painless tests that use sound waves to create pictures of the structures inside your body. These tests can show the size of an aortic aneurysm, if one is found. + +Computed Tomography Scan + +A computed tomography scan, or CT scan, is a painless test that uses x rays to take clear, detailed pictures of your organs. + +During the test, your doctor will inject dye into a vein in your arm. The dye makes your arteries, including your aorta, visible on the CT scan pictures. + +Your doctor may recommend this test if he or she thinks you have an AAA or a thoracic aortic aneurysm (TAA). A CT scan can show the size and shape of an aneurysm. This test provides more detailed pictures than an ultrasound or echo. + +Magnetic Resonance Imaging + +Magnetic resonance imaging (MRI) uses magnets and radio waves to create pictures of the organs and structures in your body. This test works well for detecting aneurysms and pinpointing their size and exact location. + +Angiography + +Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your arteries. This test shows the amount of damage and blockage in blood vessels. + +Aortic angiography shows the inside of your aorta. The test may show the location and size of an aortic aneurysm.",NHLBI,Aneurysm +What are the treatments for Aneurysm ?,"Aortic aneurysms are treated with medicines and surgery. Small aneurysms that are found early and arent causing symptoms may not need treatment. Other aneurysms need to be treated. + +The goals of treatment may include: + +Preventing the aneurysm from growing + +Preventing or reversing damage to other body structures + +Preventing or treating a rupture or dissection + +Allowing you to continue doing your normal daily activities + +Treatment for an aortic aneurysm is based on its size. Your doctor may recommend routine testing to make sure an aneurysm isn't getting bigger. This method usually is used for aneurysms that are smaller than 5 centimeters (about 2 inches) across. + +How often you need testing (for example, every few months or every year) is based on the size of the aneurysm and how fast it's growing. The larger it is and the faster it's growing, the more often you may need to be checked. + +Medicines + +If you have an aortic aneurysm, your doctor may prescribe medicines before surgery or instead of surgery. Medicines are used to lower blood pressure, relax blood vessels, and lower the risk that the aneurysm will rupture (burst). Beta blockers and calcium channel blockers are the medicines most commonly used. + +Surgery + +Your doctor may recommend surgery if your aneurysm is growing quickly or is at risk of rupture or dissection. + +The two main types of surgery to repair aortic aneurysms are open abdominal or open chest repair and endovascular repair. + +Open Abdominal or Open Chest Repair + +The standard and most common type of surgery for aortic aneurysms is open abdominal or open chest repair. This surgery involves a major incision (cut) in the abdomen or chest. + +General anesthesia (AN-es-THE-ze-ah) is used during this procedure. The term anesthesia refers to a loss of feeling and awareness. General anesthesia temporarily puts you to sleep. + +During the surgery, the aneurysm is removed. Then, the section of aorta is replaced with a graft made of material such as Dacron or Teflon. The surgery takes 3 to 6 hours; youll remain in the hospital for 5 to 8 days. + +If needed, repair of the aortic heart valve also may be done during open abdominal or open chest surgery. + +It often takes a month to recover from open abdominal or open chest surgery and return to full activity. Most patients make a full recovery. + +Endovascular Repair + +In endovascular repair, the aneurysm isn't removed. Instead, a graft is inserted into the aorta to strengthen it. Surgeons do this type of surgery using catheters (tubes) inserted into the arteries; it doesn't require surgically opening the chest or abdomen. General anesthesia is used during this procedure. + +The surgeon first inserts a catheter into an artery in the groin (upper thigh) and threads it to the aneurysm. Then, using an x ray to see the artery, the surgeon threads the graft (also called a stent graft) into the aorta to the aneurysm. + +The graft is then expanded inside the aorta and fastened in place to form a stable channel for blood flow. The graft reinforces the weakened section of the aorta. This helps prevent the aneurysm from rupturing. + +Endovascular Repair + + + +The illustration shows the placement of a stent graft in an aortic aneurysm. In figure A, a catheter is inserted into an artery in the groin (upper thigh). The catheter is threaded to the abdominal aorta, and the stent graft is released from the catheter. In figure B, the stent graft allows blood to flow through the aneurysm. + +The recovery time for endovascular repair is less than the recovery time for open abdominal or open chest repair. However, doctors cant repair all aortic aneurysms with endovascular repair. The location or size of an aneurysm may prevent the use of a stent graft.",NHLBI,Aneurysm +How to prevent Aneurysm ?,"The best way to prevent an aortic aneurysm is to avoid the factors that put you at higher risk for one. You cant control all aortic aneurysm risk factors, but lifestyle changes can help you lower some risks. + +For example, if you smoke, try to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. For more information about how to quit smoking, go to the Diseases and Conditions Index (DCI) Smoking and Your Heart article. + +Another important lifestyle change is following a healthy diet. A healthy diet includes a variety of fruits, vegetables, and whole grains. It also includes lean meats, poultry, fish, beans, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. + +For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institutes (NHLBIs) Aim for a Healthy Weight Web site, ""Your Guide to a Healthy Heart,"" and ""Your Guide to Lowering Your Blood Pressure With DASH."" All of these resources include general information about healthy eating. + +Be as physically active as you can. Talk with your doctor about the amounts and types of physical activity that are safe for you. For more information about physical activity, go to the DCI Physical Activity and Your Heart article and the NHLBIs ""Your Guide to Physical Activity and Your Heart."" + +Work with your doctor to control medical conditions such as high blood pressure and high blood cholesterol. Follow your treatment plans and take all of your medicines as your doctor prescribes. + +Screening for Aneurysms + +Although you may not be able to prevent an aneurysm, early diagnosis and treatment can help prevent rupture and dissection. + +Aneurysms can develop and grow large before causing any signs or symptoms. Thus, people who are at high risk for aneurysms may benefit from early, routine screening. + +Your doctor may recommend routine screening if youre: + +A man between the ages of 65 and 75 who has ever smoked + +A man or woman between the ages of 65 and 75 who has a family history of aneurysms + +If youre at risk, but not in one of these high-risk groups, ask your doctor whether screening will benefit you.",NHLBI,Aneurysm +What is (are) Insomnia ?,"Espaol + +Insomnia (in-SOM-ne-ah) is a common sleep disorder. People who have insomnia have trouble falling asleep, staying asleep, or both. As a result, they may get too little sleep or have poor-quality sleep. They may not feel refreshed when they wake up. + +Overview + +Insomnia can be acute (short-term) or chronic (ongoing). Acute insomnia is common and often is brought on by situations such as stress at work, family pressures, or a traumatic event. Acute insomnia lasts for days or weeks. + +Chronic insomnia lasts for a month or longer. Most cases of chronic insomnia are secondary, which means they are the symptom or side effect of some other problem. Certain medical conditions, medicines, sleep disorders, and substances can cause secondary insomnia. + +In contrast, primary insomnia isn't due to medical problems, medicines, or other substances. It is its own distinct disorder, and its cause isnt well understood. Many life changes can trigger primary insomnia, including long-lasting stress and emotional upset. + +Insomnia can cause daytime sleepiness and a lack of energy. It also can make you feel anxious, depressed, or irritable. You may have trouble focusing on tasks, paying attention, learning, and remembering. These problems can prevent you from doing your best at work or school. + +Insomnia also can cause other serious problems. For example, you may feel drowsy while driving, which could lead to an accident. + +Outlook + +Treating the underlying cause of secondary insomnia may resolve or improve the sleep problem, especially if you can correct the problem soon after it starts. For example, if caffeine is causing your insomnia, stopping or limiting your intake of the substance might make the insomnia go away. + +Lifestyle changes, including better sleep habits, often help relieve acute insomnia. For chronic insomnia, your doctor may recommend medicines or cognitive-behavioral therapy.",NHLBI,Insomnia +What causes Insomnia ?,"Secondary Insomnia + +Secondary insomnia is the symptom or side effect of another problem. This type of insomnia often is a symptom of an emotional, neurological, or other medical or sleep disorder. + +Emotional disorders that can cause insomnia include depression, anxiety, and posttraumatic stress disorder. Alzheimer's disease and Parkinson's disease are examples of neurological disorders that can cause insomnia. + +Many other disorders or factors also can cause insomnia, such as: + +Conditions that cause chronic (ongoing) pain, such as arthritis and headache disorders + +Conditions that make it hard to breathe, such as asthma and heart failure + +An overactive thyroid + +Gastrointestinal disorders, such as heartburn + +Stroke + +Sleep disorders, such as restless legs syndrome and sleep-related breathing problems + +Menopause and hot flashes + +Secondary insomnia also can be a side effect of some medicines. For example, certain asthma medicines, such as theophylline, and some allergy and cold medicines can cause insomnia. Beta blockers also can cause the condition. These medicines are used to treat heart conditions. + +Commonly used substances also can cause insomnia. Examples include caffeine and other stimulants, tobacco and other nicotine products, and alcohol and other sedatives. + +Primary Insomnia + +Primary insomnia isn't a symptom or side effect of another medical condition. It is its own distinct disorder, and its cause isnt well understood. Primary insomnia usually lasts for at least 1 month. + +Many life changes can trigger primary insomnia. It may be due to major or long-lasting stress or emotional upset. Travel or other factors, such as work schedules that disrupt your sleep routine, also may trigger primary insomnia. + +Even if these issues are resolved, the insomnia may not go away. Trouble sleeping can persist because of habits formed to deal with the lack of sleep. These habits might include taking naps, worrying about sleep, and going to bed early. + +Researchers continue to try to find out whether some people are born with an increased risk for primary insomnia.",NHLBI,Insomnia +Who is at risk for Insomnia? ?,"Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people. + +People who might be at increased risk for insomnia include those who: + +Have a lot of stress. + +Are depressed or have other emotional distress, such as divorce or death of a spouse. + +Have lower incomes. + +Work at night or have frequent major shifts in their work hours. + +Travel long distances with time changes. + +Have certain medical conditions or sleep disorders that can disrupt sleep. For more information, go to ""What Causes Insomnia?"" + +Have an inactive lifestyle. + +Young and middle-aged African Americans also might be at increased risk for insomnia. Research shows that, compared with Caucasian Americans, it takes African Americans longer to fall asleep. They also have lighter sleep, don't sleep as well, and take more naps. Sleep-related breathing problems also are more common among African Americans.",NHLBI,Insomnia +What are the symptoms of Insomnia ?,"The main symptom of insomnia is trouble falling or staying asleep, which leads to lack of sleep. If you have insomnia, you may: + +Lie awake for a long time before you fall asleep + +Sleep for only short periods + +Be awake for much of the night + +Feel as if you haven't slept at all + +Wake up too early + +The lack of sleep can cause other symptoms. You may wake up feeling tired or not well-rested, and you may feel tired during the day. You also may have trouble focusing on tasks. Insomnia can cause you to feel anxious, depressed, or irritable. + +Insomnia also can affect your daily activities and cause serious problems. For example, you may feel drowsy while driving. Driver sleepiness (not related to alcohol) is responsible for almost 20 percent of all serious car crash injuries. Research also shows that insomnia raises older womens risk of falling. + +If insomnia is affecting your daily activities, talk with your doctor. Treatment may help you avoid symptoms and problems related to the disorder. Also, poor sleep may be a sign of other health problems. Finding and treating those problems could improve your overall health and sleep.",NHLBI,Insomnia +How to diagnose Insomnia ?,"Your doctor will likely diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. For example, you may have a sleep study if the cause of your insomnia is unclear. + +Medical History + +To find out what's causing your insomnia, your doctor may ask whether you: + +Have any new or ongoing health problems + +Have painful injuries or health conditions, such as arthritis + +Take any medicines, either over-the-counter or prescription + +Have symptoms or a history of depression, anxiety, or psychosis + +Are coping with highly stressful life events, such as divorce or death + +Your doctor also may ask questions about your work and leisure habits. For example, he or she may ask about your work and exercise routines; your use of caffeine, tobacco, and alcohol; and your long-distance travel history. Your answers can give clues about what's causing your insomnia. + +Your doctor also may ask whether you have any new or ongoing work or personal problems or other stresses in your life. Also, he or she may ask whether you have other family members who have sleep problems. + +Sleep History + +To get a better sense of your sleep problem, your doctor will ask you for details about your sleep habits. Before your visit, think about how to describe your problems, including: + +How often you have trouble sleeping and how long you've had the problem + +When you go to bed and get up on workdays and days off + +How long it takes you to fall asleep, how often you wake up at night, and how long it takes to fall back asleep + +Whether you snore loudly and often or wake up gasping or feeling out of breath + +How refreshed you feel when you wake up, and how tired you feel during the day + +How often you doze off or have trouble staying awake during routine tasks, especially driving + +To find out what's causing or worsening your insomnia, your doctor also may ask you: + +Whether you worry about falling asleep, staying asleep, or getting enough sleep + +What you eat or drink, and whether you take medicines before going to bed + +What routine you follow before going to bed + +What the noise level, lighting, and temperature are like where you sleep + +What distractions, such as a TV or computer, are in your bedroom + +To help your doctor, consider keeping a sleep diary for 1 or 2 weeks. Write down when you go to sleep, wake up, and take naps. (For example, you might note: Went to bed at 10 a.m.; woke up at 3 a.m. and couldn't fall back asleep; napped after work for 2 hours.) + +Also write down how much you sleep each night, as well as how sleepy you feel throughout the day. + +You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's ""Your Guide to Healthy Sleep."" + +Physical Exam + +Your doctor will do a physical exam to rule out other medical problems that might cause insomnia. You also may need blood tests to check for thyroid problems or other conditions that can cause sleep problems. + +Sleep Study + +Your doctor may recommend a sleep study called a polysomnogram (PSG) if he or she thinks an underlying sleep disorder is causing your insomnia. + +Youll likely stay overnight at a sleep center for this study. The PSG records brain activity, eye movements, heart rate, and blood pressure. + +A PSG also records the amount of oxygen in your blood, how much air is moving through your nose while you breathe, snoring, and chest movements. The chest movements show whether you're making an effort to breathe.",NHLBI,Insomnia +What are the treatments for Insomnia ?,"Lifestyle changes often can help relieve acute (short-term) insomnia. These changes might make it easier to fall asleep and stay asleep. + +A type of counseling called cognitive-behavioral therapy (CBT) can help relieve the anxiety linked to chronic (ongoing) insomnia. Anxiety tends to prolong insomnia. + +Several medicines also can help relieve insomnia and re-establish a regular sleep schedule. However, if your insomnia is the symptom or side effect of another problem, it's important to treat the underlying cause (if possible). + +Lifestyle Changes + +If you have insomnia, avoid substances that make it worse, such as: + +Caffeine, tobacco, and other stimulants. The effects of these substances can last as long as 8 hours. + +Certain over-the-counter and prescription medicines that can disrupt sleep (for example, some cold and allergy medicines). Talk with your doctor about which medicines won't disrupt your sleep. + +Alcohol. An alcoholic drink before bedtime might make it easier for you to fall asleep. However, alcohol triggers sleep that tends to be lighter than normal. This makes it more likely that you will wake up during the night. + +Try to adopt bedtime habits that make it easier to fall asleep and stay asleep. Follow a routine that helps you wind down and relax before bed. For example, read a book, listen to soothing music, or take a hot bath. + +Try to schedule your daily exercise at least 5 to 6 hours before going to bed. Don't eat heavy meals or drink a lot before bedtime. + +Make your bedroom sleep-friendly. Avoid bright lighting while winding down. Try to limit possible distractions, such as a TV, computer, or pet. Make sure the temperature of your bedroom is cool and comfortable. Your bedroom also should be dark and quiet. + +Go to sleep around the same time each night and wake up around the same time each morning, even on weekends. If you can, avoid night shifts, alternating schedules, or other things that may disrupt your sleep schedule. + +Cognitive-Behavioral Therapy + +CBT for insomnia targets the thoughts and actions that can disrupt sleep. This therapy encourages good sleep habits and uses several methods to relieve sleep anxiety. + +For example, relaxation techniques and biofeedback are used to reduce anxiety. These strategies help you better control your breathing, heart rate, muscles, and mood. + +CBT also aims to replace sleep anxiety with more positive thinking that links being in bed with being asleep. This method also teaches you what to do if you're unable to fall asleep within a reasonable time. + +CBT also may involve talking with a therapist one-on-one or in group sessions to help you consider your thoughts and feelings about sleep. This method may encourage you to describe thoughts racing through your mind in terms of how they look, feel, and sound. The goal is for your mind to settle down and stop racing. + +CBT also focuses on limiting the time you spend in bed while awake. This method involves setting a sleep schedule. At first, you will limit your total time in bed to the typical short length of time you're usually asleep. + +This schedule might make you even more tired because some of the allotted time in bed will be taken up by problems falling asleep. However, the resulting tiredness is intended to help you get to sleep more quickly. Over time, the length of time spent in bed is increased until you get a full night of sleep. + +For success with CBT, you may need to see a therapist who is skilled in this approach weekly over 2 to 3 months. CBT works as well as prescription medicine for many people who have chronic insomnia. It also may provide better long-term relief than medicine alone. + +For people who have insomnia and major depressive disorder, CBT combined with antidepression medicines has shown promise in relieving both conditions. + +Medicines + +Prescription Medicines + +Many prescription medicines are used to treat insomnia. Some are meant for short-term use, while others are meant for longer use. + +Talk to your doctor about the benefits and side effects of insomnia medicines. For example, insomnia medicines can help you fall asleep, but you may feel groggy in the morning after taking them. + +Rare side effects of these medicines include sleep eating, sleep walking, or driving while asleep. If you have side effects from an insomnia medicine, or if it doesn't work well, tell your doctor. He or she might prescribe a different medicine. + +Some insomnia medicines can be habit forming. Ask your doctor about the benefits and risks of insomnia medicines. + +Over-the-Counter Products + +Some over-the-counter (OTC) products claim to treat insomnia. These products include melatonin, L-tryptophan supplements, and valerian teas or extracts. + +The Food and Drug Administration doesn't regulate natural products and some food supplements. Thus, the dose and purity of these substances can vary. How well these products work and how safe they are isn't well understood. + +Some OTC products that contain antihistamines are sold as sleep aids. Although these products might make you sleepy, talk to your doctor before taking them. + +Antihistamines pose risks for some people. Also, these products may not offer the best treatment for your insomnia. Your doctor can advise you whether these products will benefit you.",NHLBI,Insomnia +What is (are) Von Willebrand Disease ?,"Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs. Rarely, the bleeding may even cause death. + +In VWD, you either have low levels of a certain protein in your blood or the protein doesn't work well. The protein is called von Willebrand factor, and it helps your blood clot. + +Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot. + +Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's missing or doesn't work well in people who have hemophilia, another bleeding disorder. + +VWD is more common and usually milder than hemophilia. In fact, VWD is the most common inherited bleeding disorder. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males. + +Types of von Willebrand Disease + +The three major types of VWD are called type 1, type 2, and type 3. + +Type 1 + +People who have type 1 VWD have low levels of von Willebrand factor and may have low levels of factor VIII. Type 1 is the mildest and most common form of VWD. About 3 out of 4 people who have VWD have type 1. + +Type 2 + +In type 2 VWD, the von Willebrand factor doesn't work well. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations (changes) cause each type, and each is treated differently. Thus, it's important to know the exact type of VWD that you have. + +Type 3 + +People who have type 3 VWD usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it's very rare. + +Overview + +Most people who have VWD have type 1, a mild form. This type usually doesn't cause life-threatening bleeding. You may need treatment only if you have surgery, tooth extraction, or trauma. Treatment includes medicines and medical therapies. + +Some people who have severe forms of VWD need emergency treatment to stop bleeding before it becomes life threatening. + +Early diagnosis is important. With the proper treatment plan, even people who have type 3 VWD can live normal, active lives.",NHLBI,Von Willebrand Disease +What causes Von Willebrand Disease ?,"Von Willebrand disease (VWD) is almost always inherited. ""Inherited"" means that the disorder is passed from parents to children though genes. + +You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents' symptoms. + +Some people have the genes for the disorder but don't have symptoms. However, they still can pass the genes on to their children. + +Some people get VWD later in life as a result of other medical conditions. This type of VWD is called acquired von Willebrand syndrome.",NHLBI,Von Willebrand Disease +What are the symptoms of Von Willebrand Disease ?,"The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD. + +If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms: + +Frequent, large bruises from minor bumps or injuries + +Frequent or hard-to-stop nosebleeds + +Prolonged bleeding from the gums after a dental procedure + +Heavy or prolonged menstrual bleeding in women + +Blood in your stools from bleeding in your intestines or stomach + +Blood in your urine from bleeding in your kidneys or bladder + +Heavy bleeding after a cut or other accident + +Heavy bleeding after surgery + +People who have type 3 VWD may have all of the symptoms listed above and severe bleeding episodes for no reason. These bleeding episodes can be fatal if not treated right away. People who have type 3 VWD also may have bleeding into soft tissues or joints, causing severe pain and swelling. + +Heavy menstrual bleeding often is the main symptom of VWD in women. Doctors call this menorrhagia (men-o-RA-je-ah). They define it as: + +Bleeding with clots larger than about 1-inch in diameter + +Anemia (low red blood cell count) or low blood iron + +The need to change pads or tampons more than every hour + +However, just because a woman has heavy menstrual bleeding doesn't mean she has VWD.",NHLBI,Von Willebrand Disease +How to diagnose Von Willebrand Disease ?,"Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life. + +Sometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. Thus, they may not be diagnosed unless they have heavy bleeding after surgery or some other trauma. + +On the other hand, type 3 VWD can cause major bleeding problems during infancy and childhood. So, children who have type 3 VWD usually are diagnosed during their first year of life. + +To find out whether you have VWD, your doctor will review your medical history and the results from a physical exam and tests. + +Medical History + +Your doctor will likely ask questions about your medical history and your family's medical history. He or she may ask about: + +Any bleeding from a small wound that lasted more than 15 minutes or started up again within the first 7 days following the injury. + +Any prolonged, heavy, or repeated bleeding that required medical care after surgery or dental extractions. + +Any bruising with little or no apparent trauma, especially if you could feel a lump under the bruise. + +Any nosebleeds that occurred for no known reason and lasted more than 10 minutes despite pressure on the nose, or any nosebleeds that needed medical attention. + +Any blood in your stools for no known reason. + +Any heavy menstrual bleeding (for women). This bleeding usually involves clots or lasts longer than 7 to 10 days. + +Any history of muscle or joint bleeding. + +Any medicines you've taken that might cause bleeding or increase the risk of bleeding. Examples include aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel, warfarin, or heparin. + +Any history of liver or kidney disease, blood or bone marrow disease, or high or low blood platelet counts. + +Physical Exam + +Your doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding. He or she also will look for signs of liver disease or anemia (a low red blood cell count). + +Diagnostic Tests + +No single test can diagnose VWD. Your doctor may recommend one or more blood tests to diagnose the disorder. These tests may include: + +Von Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood. + +Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works. + +Factor VIII clotting activity. This test checks the clotting activity of factor VIII. Some people who have VWD have low levels of factor VIII activity, while others have normal levels. + +Von Willebrand factor multimers. This test is done if one or more of the first three tests are abnormal. It shows the structure of your von Willebrand factor. The test helps your doctor diagnose what type of VWD you have. + +Platelet function test. This test measures how well your platelets are working. + +You may have these tests more than once to confirm a diagnosis. Your doctor also may refer you to a hematologist to confirm the diagnosis and for followup care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders.",NHLBI,Von Willebrand Disease +What are the treatments for Von Willebrand Disease ?,"Treatment for von Willebrand disease (VWD) is based on the type of VWD you have and how severe it is. Most cases of VWD are mild, and you may need treatment only if you have surgery, tooth extraction, or an accident. + +Medicines are used to: + +Increase the amount of von Willebrand factor and factor VIII released into the bloodstream + +Replace von Willebrand factor + +Prevent the breakdown of blood clots + +Control heavy menstrual bleeding in women + +Specific Treatments + +One treatment for VWD is a man-made hormone called desmopressin. You usually take this hormone by injection or nasal spray. It makes your body release more von Willebrand factor and factor VIII into your bloodstream. Desmopressin works for most people who have type 1 VWD and for some people who have type 2 VWD. + +Another type of treatment is von Willebrand factor replacement therapy. This involves an infusion of concentrated von Willebrand factor and factor VIII into a vein in your arm. This treatment may be used if you: + +Can't take desmopressin or need extended treatment + +Have type 1 VWD that doesn't respond to desmopressin + +Have type 2 or type 3 VWD + +Antifibrinolytic (AN-te-fi-BRIN-o-LIT-ik) medicines also are used to treat VWD. These medicines help prevent the breakdown of blood clots. They're mostly used to stop bleeding after minor surgery, tooth extraction, or an injury. These medicines may be used alone or with desmopressin and replacement therapy. + +Fibrin glue is medicine that's placed directly on a wound to stop bleeding. + +Treatments for Women + +Treatments for women who have VWD with heavy menstrual bleeding include: + +Birth control pills. The hormones in these pills can increase the amount of von Willebrand factor and factor VIII in your blood. The hormones also can reduce menstrual blood loss. Birth control pills are the most recommended birth control method for women who have VWD. + +A levonorgestrel intrauterine device. This is a birth control device that contains the hormone progestin. The device is placed in the uterus (womb). + +Aminocaproic acid or tranexamic acid. These antifibrinolytic medicines can reduce bleeding by slowing the breakdown of blood clots. + +Desmopressin. + +For some women who are done having children or don't want children, endometrial ablation (EN-do-ME-tre-al ab-LA-shun) is done. This procedure destroys the lining of the uterus. It has been shown to reduce menstrual blood loss in women who have VWD. + +If you need a hysterectomy (HIS-ter-EK-to-me; surgical removal of the uterus) for another reason, this procedure will stop menstrual bleeding and possibly improve your quality of life. However, hysterectomy has its own risk of bleeding complications.",NHLBI,Von Willebrand Disease +What is (are) Rh Incompatibility ?,"Rh incompatibility is a condition that occurs during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood. + +""Rh-negative"" and ""Rh-positive"" refer to whether your blood has Rh factor. Rh factor is a protein on red blood cells. If you have Rh factor, you're Rh-positive. If you don't have it, you're Rh-negative. Rh factor is inherited (passed from parents to children through the genes). Most people are Rh-positive. + +Whether you have Rh factor doesn't affect your general health. However, it can cause problems during pregnancy. + +Overview + +When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. + +Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies usually don't cause problems during a first pregnancy. This is because the baby often is born before many of the antibodies develop. + +However, the antibodies stay in your body once they have formed. Thus, Rh incompatibility is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive). + +The Rh antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) in the baby. + +Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them. Red blood cells carry oxygen to all parts of the body. + +Without enough red blood cells, your baby won't get enough oxygen. This can lead to serious problems. Severe hemolytic anemia may even be fatal to the child. + +Outlook + +With prompt and proper prenatal care and screening, you can prevent the problems of Rh incompatibility. Screening tests allow your doctor to find out early in your pregnancy whether you're at risk for the condition. + +If you're at risk, your doctor will carefully check on you and your baby throughout your pregnancy and prescribe treatment as needed. + +Injections of a medicine called Rh immune globulin can keep your body from making Rhantibodies. This medicine helps prevent the problems of Rh incompatibility. If you're Rh-negative, you'll need this medicine every time you have a baby with Rh-positive blood. + +Other events also can expose you to Rh-positive blood, which could affect a pregnancy. Examples include a miscarriage or blood transfusion. If you're treated with Rh immune globulin right after these events, you may be able to avoid Rh incompatibility during your next pregnancy.",NHLBI,Rh Incompatibility +What causes Rh Incompatibility ?,"A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive. + +When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. + +Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby. + +Rh incompatibility usually doesn't cause problems during a first pregnancy. The baby often is born before many of the antibodies develop. + +However, once you've formed Rh antibodies, they remain in your body. Thus, the condition is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive). + +With each pregnancy, your body continues to make Rh antibodies. As a result, each Rh-positive baby you conceive becomes more at risk for serious problems, such as severe hemolytic anemia.",NHLBI,Rh Incompatibility +Who is at risk for Rh Incompatibility? ?,"An Rh-negative woman who conceives a child with an Rh-positive man is at risk for Rhincompatibility. + +Rh factor is inherited (passed from parents to children through the genes). If you're Rh-negative and the father of your baby is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood. + +Simple blood tests can show whether you and the father of your baby are Rh-positive or Rh-negative. + +If you're Rh-negative, your risk of problems from Rh incompatibility is higher if you were exposed to Rh-positive blood before the pregnancy. This may have happened during: + +An earlier pregnancy (usually during delivery). You also may have been exposed to Rh-positive blood if you had bleeding or abdominal trauma (for example, from a car accident) during the pregnancy. + +An ectopic pregnancy, a miscarriage, or an induced abortion. (An ectopic pregnancy is a pregnancy that starts outside of the uterus, or womb.) + +A mismatched blood transfusion or blood and marrow stem cell transplant. + +An injection or puncture with a needle or other object containing Rh-positive blood. + +Certain tests also can expose you to Rh-positive blood. Examples include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). + +Amniocentesis is a test that you may have during pregnancy. Your doctor uses a needle to remove a small amount of fluid from the sac around your baby. The fluid is then tested for various reasons. + +CVS also may be done during pregnancy. For this test, your doctor threads a thin tube through the vagina and cervix to the placenta. He or she removes a tissue sample from the placenta using gentle suction. The tissue sample is tested for various reasons. + +Unless you were treated with the medicine that prevents Rh antibodies (Rh immune globulin) after each of these events, you're at risk for Rh incompatibility during current and future pregnancies.",NHLBI,Rh Incompatibility +What are the symptoms of Rh Incompatibility ?,"Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them. + +Red blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. Without enough red blood cells and hemoglobin, the baby won't get enough oxygen. + +Hemolytic anemia can cause mild to severe signs and symptoms in a newborn, such as jaundice and a buildup of fluid. + +Jaundice is a yellowish color of the skin and whites of the eyes. When red blood cells die, they release hemoglobin into the blood. The hemoglobin is broken down into a compound called bilirubin. This compound gives the skin and eyes a yellowish color. High levels of bilirubin can lead to brain damage in the baby. + +The buildup of fluid is a result of heart failure. Without enough hemoglobin-carrying red blood cells, the baby's heart has to work harder to move oxygen-rich blood through the body. This stress can lead to heart failure. + +Heart failure can cause fluid to build up in many parts of the body. When this occurs in a fetus or newborn, the condition is called hydrops fetalis (HI-drops fe-TAL-is). + +Severe hemolytic anemia can be fatal to a newborn at the time of birth or shortly after.",NHLBI,Rh Incompatibility +How to diagnose Rh Incompatibility ?,"Rh incompatibility is diagnosed with blood tests. To find out whether a baby is developing hemolytic anemia and how serious it is, doctors may use more advanced tests, such as ultrasound. + +Specialists Involved + +An obstetrician will screen for Rh incompatibility. This is a doctor who specializes in treating pregnant women. The obstetrician also will monitor the pregnancy and the baby for problems related to hemolytic anemia. He or she also will oversee treatment to prevent problems with future pregnancies. + +A pediatrician or hematologist treats newborns who have hemolytic anemia and related problems. A pediatrician is a doctor who specializes in treating children. A hematologist is a doctor who specializes in treating people who have blood diseases and disorders. + +Diagnostic Tests + +If you're pregnant, your doctor will order a simple blood test at your first prenatal visit to learn whether you're Rh-positive or Rh-negative. + +If you're Rh-negative, you also may have another blood test called an antibody screen. This test shows whether you have Rh antibodies in your blood. If you do, it means that you were exposed to Rh-positive blood before and you're at risk for Rh incompatibility. + +If you're Rh-negative and you don't have Rh antibodies, your baby's father also will be tested to find out his Rh type. If he's Rh-negative too, the baby has no chance of having Rh-positive blood. Thus, there's no risk of Rh incompatibility. + +However, if the baby's father is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood. As a result, you're at high risk of developing Rhincompatibility. + +If your baby's father is Rh-positive, or if it's not possible to find out his Rh status, your doctor may do a test called amniocentesis. + +For this test, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to learn whether the baby is Rh-positive. (Rarely, an amniocentesis can expose you to Rh-positive blood). + +Your doctor also may use this test to measure bilirubin levels in your baby. Bilirubin builds up as a result of red blood cells dying too quickly. The higher the level of bilirubin is, the greater the chance that the baby has hemolytic anemia. + +If Rh incompatibility is known or suspected, you'll be tested for Rh antibodies one or more times during your pregnancy. This test often is done at least once at your sixth or seventh month of pregnancy. + +The results from this test also can suggest how severe the baby's hemolytic anemia has become. Higher levels of antibodies suggest more severe hemolytic anemia. + +To check your baby for hemolytic anemia, your doctor also may use a test called Doppler ultrasound. He or she will use this test to measure how fast blood is flowing through an artery in the baby's head. + +Doppler ultrasound uses sound waves to measure how fast blood is moving. The faster the blood flow is, the greater the risk of hemolytic anemia. This is because the anemia will cause the baby's heart to pump more blood.",NHLBI,Rh Incompatibility +What are the treatments for Rh Incompatibility ?,"Rh incompatibility is treated with a medicine called Rh immune globulin. Treatment for a baby who has hemolytic anemia will vary based on the severity of the condition. + +Goals of Treatment + +The goals of treating Rh incompatibility are to ensure that your baby is healthy and to lower your risk for the condition in future pregnancies. + +Treatment for Rh Incompatibility + +If Rh incompatibility is diagnosed during your pregnancy, you'll receive Rh immune globulin in your seventh month of pregnancy and again within 72 hours of delivery. + +You also may receive Rh immune globulin if the risk of blood transfer between you and the baby is high (for example, if you've had a miscarriage, ectopic pregnancy, or bleeding during pregnancy). + +Rh immune globulin contains Rh antibodies that attach to the Rh-positive blood cells in your blood. When this happens, your body doesn't react to the baby's Rh-positive cells as a foreign substance. As a result, your body doesn't make Rh antibodies. Rh immune globulin must be given at the correct times to work properly. + +Once you have formed Rh antibodies, the medicine will no longer help. That's why a woman who has Rh-negative blood must be treated with the medicine with each pregnancy or any other event that allows her blood to mix with Rh-positive blood. + +Rh immune globulin is injected into the muscle of your arm or buttock. Side effects may include soreness at the injection site and a slight fever. The medicine also may be injected into a vein. + +Treatment for Hemolytic Anemia + +Several options are available for treating hemolytic anemia in a baby. In mild cases, no treatment may be needed. If treatment is needed, the baby may be given a medicine called erythropoietin and iron supplements. These treatments can prompt the body to make red blood cells. + +If the hemolytic anemia is severe, the baby may get a blood transfusion through the umbilical cord. If the hemolytic anemia is severe and the baby is almost full-term, your doctor may induce labor early. This allows the baby's doctor to begin treatment right away. + +A newborn who has severe anemia may be treated with a blood exchange transfusion. The procedure involves slowly removing the newborn's blood and replacing it with fresh blood or plasma from a donor. + +Newborns also may be treated with special lights to reduce the amount of bilirubin in their blood. These babies may have jaundice (a yellowish color of the skin and whites of the eyes). High levels of bilirubin cause jaundice. + +Reducing the blood's bilirubin level is important because high levels of this compound can cause brain damage. High levels of bilirubin often are seen in babies who have hemolytic anemia. This is because the compound forms when red blood cells break down.",NHLBI,Rh Incompatibility +How to prevent Rh Incompatibility ?,"Rh incompatibility can be prevented with Rh immune globulin, as long as the medicine is given at the correct times. Once you have formed Rh antibodies, the medicine will no longer help. + +Thus, a woman who has Rh-negative blood must be treated with Rh immune globulin during and after each pregnancy or after any other event that allows her blood to mix with Rh-positive blood. + +Early prenatal care also can help prevent some of the problems linked to Rh incompatibility. For example, your doctor can find out early whether you're at risk for the condition. + +If you're at risk, your doctor can closely monitor your pregnancy. He or she will watch for signs of hemolytic anemia in your baby and provided treatment as needed.",NHLBI,Rh Incompatibility +What is (are) Sarcoidosis ?,"Espaol + +Sarcoidosis (sar-koy-DO-sis) is a disease of unknown cause that leads to inflammation. This disease affects your bodys organs. + +Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger. + +These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away. + +In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas (gran-yu-LO-mas) in various organs in your body. + +Overview + +Sarcoidosis can affect any organ in your body. However, it's more likely to affect some organs than others. The disease usually starts in the lungs, skin, and/or lymph nodes (especially the lymph nodes in your chest). + +Also, the disease often affects the eyes and liver. Although less common, sarcoidosis can affect the heart and brain, leading to serious complications. + +If many granulomas form in an organ, they can affect how the organ works. This can cause signs and symptoms. Signs and symptoms vary depending on which organs are affected. Many people who have sarcoidosis have no signs or symptoms or mild ones. + +Lofgren's syndrome is a classic set of signs and symptoms that is typical in some people who have sarcoidosis. Lofgren's syndrome may cause fever, enlarged lymph nodes, arthritis (usually in the ankles), and/or erythema nodosum (er-ih-THE-ma no-DO-sum). + +Erythema nodosum is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. + +Treatment for sarcoidosis varies depending on which organs are affected. Your doctor may prescribe topical treatments and/or medicines to treat the disease. Not everyone who has sarcoidosis needs treatment. + +Outlook + +The outlook for sarcoidosis varies. Many people recover from the disease with few or no long-term problems. + +More than half of the people who have sarcoidosis have remission within 3 years of diagnosis. Remission means the disease isn't active, but it can return. + +Two-thirds of people who have the disease have remission within 10 years of diagnosis. People who have Lofgren's syndrome usually have remission. Relapse (return of the disease) 1 or more years after remission occurs in less than 5 percent of patients. + +Sarcoidosis leads to organ damage in about one-third of the people diagnosed with the disease. Damage may occur over many years and involve more than one organ. Rarely, sarcoidosis can be fatal. Death usually is the result of problems with the lungs, heart, or brain. + +Poor outcomes are more likely in people who have advanced disease and show little improvement from treatment. + +Certain people are at higher risk for poor outcomes from chronic (long-term) sarcoidosis. This includes people who have lung scarring, heart or brain complications, or lupus pernio (LU-pus PUR-ne-o). Lupus pernio is a serious skin condition that sarcoidosis may cause. + +Research is ongoing for new and better treatments for sarcoidosis.",NHLBI,Sarcoidosis +What causes Sarcoidosis ?,"The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease. + +Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals. + +Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger. + +These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away. + +In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas in various organs in your body. + +Genetics also may play a role in sarcoidosis. Researchers believe that sarcoidosis occurs if: + +You have a certain gene or genes that raise your risk for the disease + +And + +You're exposed to something that triggers your immune system + +Triggers may vary depending on your genetic makeup. Certain genes may influence which organs are affected and the severity of your symptoms. + +Researchers continue to try to pinpoint the genes that are linked to sarcoidosis.",NHLBI,Sarcoidosis +Who is at risk for Sarcoidosis? ?,"Sarcoidosis affects people of all ages and races. However, it's more common among African Americans and Northern Europeans. In the United States, the disease affects African Americans somewhat more often and more severely than Whites. + +Studies have shown that sarcoidosis tends to vary amongst ethnic groups. For example, eye problems related to the disease are more common in Japanese people. + +Lofgren's syndrome, a type of sarcoidosis, is more common in people of European descent. Lofgren's syndrome may involve fever, enlarged lymph nodes, arthritis (usually in the ankles), and/or erythema nodosum. Erythema nodosum is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. + +Sarcoidosis is somewhat more common in women than in men. The disease usually develops between the ages of 20 and 50. People who have a family history of sarcoidosis also are at higher risk for the disease. + +Researchers have looked for a link between sarcoidosis and exposure to workplace and environmental factors. However, no clear link has been found.",NHLBI,Sarcoidosis +What are the symptoms of Sarcoidosis ?,"Many people who have sarcoidosis have no signs or symptoms or mild ones. Often, the disease is found when a chest x ray is done for another reason (for example, to diagnose pneumonia). + +The signs and symptoms of sarcoidosis vary depending on which organs are affected. Signs and symptoms also may vary depending on your gender, age, and ethnic background. (For more information, go to ""Who Is at Risk for Sarcoidosis?"") + +Common Signs and Symptoms + +In both adults and children, sarcoidosis most often affects the lungs. If granulomas (inflamed lumps) form in your lungs, you may wheeze, cough, feel short of breath, or have chest pain. Or, you may have no symptoms at all. + +Some people who have sarcoidosis feel very tired, uneasy, or depressed. Night sweats and weight loss are common symptoms of the disease. + +Common signs and symptoms in children are fatigue (tiredness), loss of appetite, weight loss, bone and joint pain, and anemia. + +Children who are younger than 4 years old may have a distinct form of sarcoidosis. It may cause enlarged lymph nodes in the chest (which can be seen on chest x-ray pictures), skin lesions, and eye swelling or redness. + +Other Signs and Symptoms + +Sarcoidosis may affect your lymph nodes. The disease can cause enlarged lymph nodes that feel tender. Sarcoidosis usually affects the lymph nodes in your neck and chest. However, the disease also may affect the lymph nodes under your chin, in your armpits, or in your groin. + +Sarcoidosis can cause lumps, ulcers (sores), or areas of discolored skin. These areas may itch, but they don't hurt. These signs tend to appear on your back, arms, legs, and scalp. Sometimes they appear near your nose or eyes. These signs usually last a long time. + +Sarcoidosis may cause a more serious skin condition called lupus pernio. Disfiguring skin sores may affect your nose, nasal passages, cheeks, ears, eyelids, and fingers. These sores tend to be ongoing. They can return after treatment is over. + +Sarcoidosis also can cause eye problems. If you have sarcoidosis, having an annual eye exam is important. If you have changes in your vision and can't see as clearly or can't see color, call 911 or have someone drive you to the emergency room. + +You should call your doctor if you have any new eye symptoms, such as burning, itching, tearing, pain, or sensitivity to light. + +Signs and symptoms of sarcoidosis also may include an enlarged liver, spleen, or salivary glands. + +Although less common, sarcoidosis can affect the heart and brain. This can cause many symptoms, such as abnormal heartbeats, shortness of breath, headaches, and vision problems. If sarcoidosis affects the heart or brain, serious complications can occur. + +Lofgren's Syndrome + +Lofgren's syndrome is a classic set of signs and symptoms that occur in some people when they first have sarcoidosis. Signs and symptoms may include: + +Fever. This symptom only occurs in some people. + +Enlarged lymph nodes (which can be seen on a chest x ray). + +Arthritis, usually in the ankles. This symptom is more common in men than women. + +Erythema nodosum. This is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. This symptom is more common in women than men. + +Sarcoidosis Signs and Symptoms",NHLBI,Sarcoidosis +How to diagnose Sarcoidosis ?,"Your doctor will diagnose sarcoidosis based on your medical history, a physical exam, and test results. He or she will look for granulomas (inflamed lumps) in your organs. Your doctor also will try to rule out other possible causes of your symptoms. + +Medical History + +Your doctor may ask you detailed questions about your medical history. For example, he or she may ask whether you: + +Have a family history of sarcoidosis. + +Have had any jobs that may have raised your risk for the disease. + +Have ever been exposed to inhaled beryllium metal. (This type of metal is used to make aircrafts and weapons.) + +Have had contact with organic dust from birds or hay. + +Exposure to beryllium metal and organic dust can cause inflamed lumps in your lungs that look like the granulomas from sarcoidosis. However, these lumps are signs of other conditions. + +Physical Exam + +Your doctor will check you for signs and symptoms of sarcoidosis. Signs and symptoms may include red bumps on your skin; swollen lymph nodes; an enlarged liver, spleen, or salivary glands; or redness in your eyes. Your doctor also will check for other causes of your symptoms. + +Your doctor may listen to your lungs and heart. Abnormal breathing or heartbeat sounds could be a sign that sarcoidosis is affecting your lungs or heart. + +Diagnostic Tests + +You may have tests to confirm a diagnosis and to find out how sarcoidosis is affecting you. Tests include a chest x ray, lung function tests, biopsy, and other tests to assess organ damage. + +Chest X Ray + +A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart and lungs. The test may show granulomas or enlarged lymph nodes in your chest. About 95 percent of people who have sarcoidosis have abnormal chest xrays. + +Lung Function Tests + +Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests can show whether sarcoidosis is affecting your lungs. + +Biopsy + +Your doctor may do a biopsy to confirm a diagnosis or rule out other causes of your symptoms. A biopsy involves taking a small sample of tissue from one of your affected organs. + +Usually, doctors try to biopsy the organs that are easiest to access. Examples include the skin, tear glands, or the lymph nodes that are just under the skin. + +If this isn't possible, your doctor may use a positron emission tomography (PET) scan to pinpoint areas for biopsy. For this test, a small amount of radioactive substance is injected into a vein, usually in your arm. + +The substance, which releases energy, travels through the blood and collects in organs or tissues. Special cameras detect the energy and convert it into three-dimensional (3D) pictures. + +If lung function tests or a chest x ray shows signs of sarcoidosis in your lungs, your doctor may do a bronchoscopy (bron-KOS-ko-pee) to get a small sample of lung tissue. + +During this procedure, a thin, flexible tube is passed through your nose (or sometimes your mouth), down your throat, and into the airways to reach your lung tissue. (For more information, go to the Health Topics Bronchoscopy article.) + +Other Tests To Assess Organ Damage + +You also may have other tests to assess organ damage and find out whether you need treatment. For example, your doctor may recommend blood tests and/or an EKG (electrocardiogram). + +If youre diagnosed with sarcoidosis, you should see an ophthalmologist (eye specialist), even if you dont have eye symptoms. In sarcoidosis, eye damage can occur without symptoms.",NHLBI,Sarcoidosis +What are the treatments for Sarcoidosis ?,"Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well. + +If the disease affects certain organssuch as your eyes, heart, or brainyou'll need treatment even if you don't have any symptoms. + +In either case, whether you have symptoms or not, you should see your doctor for ongoing care. He or she will want to check to make sure that the disease isn't damaging your organs. For example, you may need routine lung function tests to make sure that your lungs are working well. + +If the disease isn't worsening, your doctor may watch you closely to see whether the disease goes away on its own. If the disease does start to get worse, your doctor can prescribe treatment. + +The goals of treatment include: + +Relieving symptoms + +Improving organ function + +Controlling inflammation and reducing the size of granulomas (inflamed lumps) + +Preventing pulmonary fibrosis (lung scarring) if your lungs are affected + +Your doctor may prescribe topical treatments and/or medicines to treat the disease. + +Medicines + +Prednisone + +Prednisone, a type of steroid, is the main treatment for sarcoidosis. This medicine reduces inflammation. In most people, prednisone relieves symptoms within a couple of months. + +Although most people need to take prednisone for 12 months or longer, your doctor may lower the dose within a few months after you start the medicine. + +Long-term use of prednisone, especially at high doses, can cause serious side effects. Work with your doctor to decide whether the benefits of this medicine outweigh the risks. If your doctor prescribes this treatment, he or she will find the lowest dose that controls your disease. + +When you stop taking prednisone, you should cut back slowly (as your doctor advises). This will help prevent flareups of sarcoidosis. Cutting back slowly also allows your body to adjust to not having the medicine. + +If a relapse or flareup occurs after you stop taking prednisone, you may need a second round of treatment. If you remain stable for more than 1 year after stopping this treatment, the risk of relapse is low. + +Other Medicines + +Other medicines, besides prednisone, also are used to treat sarcoidosis. Examples include: + +Hydroxychloroquine or chloroquine (known as antimalarial medicines). These medicines work best for treating sarcoidosis that affects the skin or brain. Your doctor also may prescribe an antimalarial if you have a high level of calcium in your blood due to sarcoidosis. + +Medicines that suppress the immune system, such as methotrexate, azathioprine, or leflunomide. These medicines work best for treating sarcoidosis that affects your lungs, eyes, skin, or joints. + +Your doctor may prescribe these medicines if your sarcoidosis worsens while you're taking prednisone or if you can't handle prednisone's side effects. + +If you have Lofgren's syndrome with pain or fever, your doctor may prescribe nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. + +If you're wheezing and coughing, you may need inhaled medicine to help open your airways. You take inhaled medicine using an inhaler. This device allows the medicine to go straight to your lungs. + +Anti-tumor necrosis factor drugs, originally developed to treat arthritis, are being studied to treat sarcoidosis. + +Ongoing Research + +Researchers continue to look for new and better treatments for sarcoidosis. They're currently studying treatments aimed at the immune system. Researchers also are studying antibiotics as a possible treatment for sarcoidosis that affects the skin. + +For more information about ongoing research, go to the Clinical Trials section of this article.",NHLBI,Sarcoidosis +What is (are) Respiratory Distress Syndrome ?,"Respiratory distress syndrome (RDS) is a breathing disorder that affects newborns. RDS rarely occurs in full-term infants. The disorder is more common in premature infants born about 6 weeks or more before their due dates. + +RDS is more common in premature infants because their lungs aren't able to make enough surfactant (sur-FAK-tant). Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so that infants can breathe in air once they're born. + +Without enough surfactant, the lungs collapse and the infant has to work hard to breathe. He or she might not be able to breathe in enough oxygen to support the body's organs. The lack of oxygen can damage the baby's brain and other organs if proper treatment isn't given. + +Most babies who develop RDS show signs of breathing problems and a lack of oxygen at birth or within the first few hours that follow. + +Overview + +RDS is a common lung disorder in premature infants. In fact, nearly all infants born before 28 weeks of pregnancy develop RDS. + +RDS might be an early phase of bronchopulmonary dysplasia (brong-ko-PUL-mo-nar-e dis-PLA-ze-ah), or BPD. This is another breathing disorder that affects premature babies. + +RDS usually develops in the first 24 hours after birth. If premature infants still have breathing problems by the time they reach their original due dates, they may be diagnosed with BPD. Some of the life-saving treatments used for RDS may cause BPD. + +Some infants who have RDS recover and never get BPD. Infants who do get BPD have lungs that are less developed or more damaged than the infants who recover. + +Infants who develop BPD usually have fewer healthy air sacs and tiny blood vessels in their lungs. Both the air sacs and the tiny blood vessels that support them are needed to breathe well. + +Outlook + +Due to improved treatments and medical advances, most infants who have RDS survive. However, these babies may need extra medical care after going home. + +Some babies have complications from RDS or its treatments. Serious complications include chronic (ongoing) breathing problems, such as asthma and BPD; blindness; and brain damage.",NHLBI,Respiratory Distress Syndrome +What causes Respiratory Distress Syndrome ?,"The main cause of respiratory distress syndrome (RDS) is a lack of surfactant in the lungs. Surfactant is a liquid that coats the inside of the lungs. + +A fetus's lungs start making surfactant during the third trimester of pregnancy (weeks 26 through labor and delivery). The substance coats the insides of the air sacs in the lungs. This helps keep the lungs open so breathing can occur after birth. + +Without enough surfactant, the lungs will likely collapse when the infant exhales (breathes out). The infant then has to work harder to breathe. He or she might not be able to get enough oxygen to support the body's organs. + +Some full-term infants develop RDS because they have faulty genes that affect how their bodies make surfactant.",NHLBI,Respiratory Distress Syndrome +Who is at risk for Respiratory Distress Syndrome? ?,"Certain factors may increase the risk that your infant will have respiratory distress syndrome (RDS). These factors include: + +Premature delivery. The earlier your baby is born, the greater his or her risk for RDS. Most cases of RDS occur in babies born before 28 weeks of pregnancy. + +Stress during your baby's delivery, especially if you lose a lot of blood. + +Infection. + +Your having diabetes. + +Your baby also is at greater risk for RDS if you require an emergency cesarean delivery (C-section) before your baby is full term. You may need an emergency C-section because of a condition, such as a detached placenta, that puts you or your infant at risk. + +Planned C-sections that occur before a baby's lungs have fully matured also can increase the risk of RDS. Your doctor can do tests before delivery that show whether it's likely that your baby's lungs are fully developed. These tests assess the age of the fetus or lung maturity.",NHLBI,Respiratory Distress Syndrome +What are the symptoms of Respiratory Distress Syndrome ?,"Signs and symptoms of respiratory distress syndrome (RDS) usually occur at birth or within the first few hours that follow. They include: + +Rapid, shallow breathing + +Sharp pulling in of the chest below and between the ribs with each breath + +Grunting sounds + +Flaring of the nostrils + +The infant also may have pauses in breathing that last for a few seconds. This condition is called apnea (AP-ne-ah). + +Respiratory Distress Syndrome Complications + +Depending on the severity of an infant's RDS, he or she may develop other medical problems. + +Lung Complications + +Lung complications may include a collapsed lung (atelectasis), leakage of air from the lung into the chest cavity (pneumothorax), and bleeding in the lung (hemorrhage). + +Some of the life-saving treatments used for RDS may cause bronchopulmonary dysplasia, another breathing disorder. + +Blood and Blood Vessel Complications + +Infants who have RDS may develop sepsis, an infection of the bloodstream. This infection can be life threatening. + +Lack of oxygen may prevent a fetal blood vessel called the ductus arteriosus from closing after birth as it should. This condition is called patent ductus arteriosus, or PDA. + +The ductus arteriosus connects a lung artery to a heart artery. If it remains open, it can strain the heart and increase blood pressure in the lung arteries. + +Other Complications + +Complications of RDS also may include blindness and other eye problems and a bowel disease called necrotizing enterocolitis (EN-ter-o-ko-LI-tis). Infants who have severe RDS can develop kidney failure. + +Some infants who have RDS develop bleeding in the brain. This bleeding can delay mental development. It also can cause mental retardation or cerebral palsy.",NHLBI,Respiratory Distress Syndrome +How to diagnose Respiratory Distress Syndrome ?,"Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born. + +Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm that the doctors have diagnosed the condition correctly. + +The tests include: + +Chest x ray. A chest x ray creates a of the structures inside the chest, such as the heart and lungs. This test can show whether your infant has signs of RDS. A chest x ray also can detect problems, such as a collapsed lung, that may require urgent treatment. + +Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help find out whether an infection is causing the infant's breathing problems. + +Echocardiography (echo). This test uses sound waves to create a moving picture of the heart. Echo is used to rule out heart defects as the cause of an infant's breathing problems.",NHLBI,Respiratory Distress Syndrome +What are the treatments for Respiratory Distress Syndrome ?,"Treatment for respiratory distress syndrome (RDS) usually begins as soon as an infant is born, sometimes in the delivery room. + +Most infants who show signs of RDS are quickly moved to a neonatal intensive care unit (NICU). There they receive around-the-clock treatment from health care professionals who specialize in treating premature infants. + +The most important treatments for RDS are: + +Surfactant replacement therapy. + +Breathing support from a ventilator or nasal continuous positive airway pressure (NCPAP) machine. These machines help premature infants breathe better. + +Oxygen therapy. + +Surfactant Replacement Therapy + +Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so that an infant can breathe in air once he or she is born. + +Babies who have RDS are given surfactant until their lungs are able to start making the substance on their own. Surfactant usually is given through a breathing tube. The tube allows the surfactant to go directly into the baby's lungs. + +Once the surfactant is given, the breathing tube is connected to a ventilator, or the baby may get breathing support from NCPAP. + +Surfactant often is given right after birth in the delivery room to try to prevent or treat RDS. It also may be given several times in the days that follow, until the baby is able to breathe better. + +Some women are given medicines called corticosteroids during pregnancy. These medicines can speed up surfactant production and lung development in a fetus. Even if you had these medicines, your infant may still need surfactant replacement therapy after birth. + +Breathing Support + +Infants who have RDS often need breathing support until their lungs start making enough surfactant. Until recently, a mechanical ventilator usually was used. The ventilator was connected to a breathing tube that ran through the infant's mouth or nose into the windpipe. + +Today, more and more infants are receiving breathing support from NCPAP. NCPAP gently pushes air into the baby's lungs through prongs placed in the infant's nostrils. + +Oxygen Therapy + +Infants who have breathing problems may get oxygen therapy. Oxygen is given through a ventilator or NCPAP machine, or through a tube in the nose. This treatment ensures that the infants' organs get enough oxygen to work well. + +For more information, go to the Health Topics Oxygen Therapy article. + +Other Treatments + +Other treatments for RDS include medicines, supportive therapy, and treatment for patent ductus arteriosus (PDA). PDA is a condition that affects some premature infants. + +Medicines + +Doctors often give antibiotics to infants who have RDS to control infections (if the doctors suspect that an infant has an infection). + +Supportive Therapy + +Treatment in the NICU helps limit stress on babies and meet their basic needs of warmth, nutrition, and protection. Such treatment may include: + +Using a radiant warmer or incubator to keep infants warm and reduce the risk of infection. + +Ongoing monitoring of blood pressure, heart rate, breathing, and temperature through sensors taped to the babies' bodies. + +Using sensors on fingers or toes to check the amount of oxygen in the infants' blood. + +Giving fluids and nutrients through needles or tubes inserted into the infants' veins. This helps prevent malnutrition and promotes growth. Nutrition is critical to the growth and development of the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are passed through their noses or mouths and into their throats. + +Checking fluid intake to make sure that fluid doesn't build up in the babies' lungs. + +Treatment for Patent Ductus Arteriosus + +PDA is a possible complication of RDS. In this condition, a fetal blood vessel called the ductus arteriosus doesn't close after birth as it should. + +The ductus arteriosus connects a lung artery to a heart artery. If it remains open, it can strain the heart and increase blood pressure in the lung arteries. + +PDA is treated with medicines, catheter procedures, and surgery. For more information, go to the Health Topics Patent Ductus Arteriosus article.",NHLBI,Respiratory Distress Syndrome +How to prevent Respiratory Distress Syndrome ?,"Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include: + +Seeing your doctor regularly during your pregnancy + +Following a healthy diet + +Avoiding tobacco smoke, alcohol, and illegal drugs + +Managing any medical conditions you have + +Preventing infections + +If you're having a planned cesarean delivery (C-section), your doctor can do tests before delivery to show whether it's likely that your baby's lungs are fully developed. These tests assess the age of the fetus or lung maturity. + +Your doctor may give you injections of a corticosteroid medicine if he or she thinks you may give birth too early. This medicine can speed up surfactant production and development of the lungs, brain, and kidneys in your baby. + +Treatment with corticosteroids can reduce your baby's risk of respiratory distress syndrome (RDS). If the baby does develop RDS, it will probably be fairly mild. + +Corticosteroid treatment also can reduce the chances that your baby will have bleeding in the brain.",NHLBI,Respiratory Distress Syndrome +What is (are) Obesity Hypoventilation Syndrome ?,"Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia). + +OHS sometimes is called Pickwickian syndrome. + +Overview + +To understand OHS, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). + +Small blood vessels called capillaries (KAP-ih-lare-ees) run through the walls of the air sacs. When air reaches the air sacs, oxygen passes through the air sac walls into the blood in the capillaries. At the same time, carbon dioxide moves from the capillaries into the air sacs. This process is called gas exchange. + +In people who have OHS, poor breathing prevents proper gas exchange. As a result, the level of carbon dioxide in the blood rises. Also, the level of oxygen in the blood drops. + +These changes can lead to serious health problems, such as leg edema (e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL-e), and secondary erythrocytosis (eh-RITH-ro-si-TOE-sis). If left untreated, OHS can even be fatal. + +The cause of OHS isn't fully known. Researchers think that several factors may work together to cause the disorder. + +Many people who have OHS also have obstructive sleep apnea. Obstructive sleep apnea is a common disorder in which the airway collapses or is blocked during sleep. This causes pauses in breathing or shallow breaths while you sleep. + +Obstructive sleep apnea disrupts your sleep and causes you to feel very tired during the day. (For more information, go to the Health Topics Sleep Apnea article.) + +Outlook + +Doctors treat OHS in a number of ways. One way is with positive airway pressure (PAP) machines, which are used during sleep. + +PAP therapy uses mild air pressure to keep your airways open. Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure). + +If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you select a machine based on your prescription and the features that meet your needs. + +Other treatments for OHS include ventilator (VEN-til-a-tor) support and medicines. (A ventilator is a machine that supports breathing.) + +OHS occurs with obesity, so your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes, such as following a healthy diet and being physically active. + +OHS can lead to other serious health problems, so following your treatment plan is important. Your health care team, home equipment provider, and family can help you manage your treatment.",NHLBI,Obesity Hypoventilation Syndrome +What causes Obesity Hypoventilation Syndrome ?,"Obesity hypoventilation syndrome (OHS) is a breathing disorder that affects some obese people. Why these people develop OHS isn't fully known. Researchers think that several factors may work together to cause OHS. These factors include: + +A respiratory (RES-pih-rah-tor-e) system that has to work harder than normal and perhaps differently because of excess body weight. (The respiratory system is a group of organs and tissues, including the lungs, that helps you breathe.) + +A slow response by the body to fix the problem of too much carbon dioxide and too little oxygen in the blood. + +The presence of sleep apnea, usually obstructive sleep apnea.",NHLBI,Obesity Hypoventilation Syndrome +Who is at risk for Obesity Hypoventilation Syndrome? ?,"People who are obese are at risk for obesity hypoventilation syndrome (OHS). ""Obesity"" refers to having too much body fat. People who are obese have body weight that's greater than what is considered healthy for a certain height. + +The most useful measure of obesity is body mass index (BMI). BMI is calculated from your height and weight. In adults, a BMI of 30 or more is considered obese. + +You can use the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI, or your doctor can help you. + +If you are obese, you're at greater risk for OHS if your BMI is 40 or higher. You're also at greater risk if most of your excess weight is around your waist, rather than at your hips. This is referred to as ""abdominal obesity."" + +OHS tends to occur more often in men than women. At the time of diagnosis, most people are 40 to 60 years old.",NHLBI,Obesity Hypoventilation Syndrome +What are the symptoms of Obesity Hypoventilation Syndrome ?,"Many of the signs and symptoms of obesity hypoventilation syndrome (OHS) are the same as those of obstructive sleep apnea. This is because many people who have OHS also have obstructive sleep apnea. + +One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. Pauses may occur in the snoring. Choking or gasping may follow the pauses. + +Other symptoms include: + +Daytime sleepiness + +Morning headaches + +Memory, learning, or concentration problems + +Feeling irritable or depressed, or having mood swings or personality changes + +You also may have rapid, shallow breathing. During a physical exam, your doctor might hear abnormal heart sounds while listening to your heart with a stethoscope. He or she also might notice that the opening to your throat is small and your neck is larger than normal. + +Complications of Obesity Hypoventilation Syndrome + +When left untreated, OHS can cause serious problems, such as: + +Leg edema, which is swelling in the legs caused by fluid in the body's tissues. + +Pulmonary hypertension, which is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. + +Cor pulmonale, which is failure of the right side of the heart. + +Secondary erythrocytosis, which is a condition in which the body makes too many red blood cells.",NHLBI,Obesity Hypoventilation Syndrome +How to diagnose Obesity Hypoventilation Syndrome ?,"Obesity hypoventilation syndrome (OHS) is diagnosed based on your medical history, signs and symptoms, and test results. + +Specialists Involved + +A critical care specialist, pulmonologist (lung specialist), and/or sleep specialist may diagnose and treat your condition. + +A sleep specialist is a doctor who diagnoses and treats sleep problems. Examples of such doctors include lung and nerve specialists and ear, nose, and throat specialists. Other types of doctors also can be sleep specialists. + +Your health care team also may include: + +A registered dietitian or nutritionist to help you plan and follow a healthy diet. (Your primary care doctor also might oversee weight-loss treatment and progress.) + +An exercise physiologist or trainer to assess your fitness level and help create a physical activity plan that's safe for you. + +A bariatric surgeon if weight-loss surgery is an option for you. + +Medical History and Physical Exam + +Your doctor will ask about your signs and symptoms, such as loud snoring or daytime sleepiness. He or she also may ask about your use of alcohol and certain medicines, such as sedatives and narcotics. These substances can worsen OHS. + +During the physical exam, your doctor will listen to your heart with a stethoscope. He or she also will check to see whether another disease or condition could be the cause of your poor breathing. + +Diagnostic Tests + +In OHS, poor breathing leads to too much carbon dioxide and too little oxygen in the blood. An arterial blood gas test can measure the levels of these gases in your blood. + +For this test, a blood sample is taken from an artery, usually in your wrist. The sample is then sent to a laboratory, where the oxygen and carbon dioxide levels are measured. + +Other tests also can measure the carbon dioxide level or oxygen level in your blood. These tests include a serum bicarbonate test and pulse oximetry. + +A serum bicarbonate test measures the amount of carbon dioxide in the liquid part of your blood, called the serum. For this test, a blood sample is taken from a vein, usually in your wrist or hand. + +Pulse oximetry measures the level of oxygen in your blood. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. + +Other Tests + +Your doctor may recommend other tests to help check for conditions and problems related to OHS. + +Polysomnogram + +A polysomnogram (PSG) is a type of sleep study. You usually have to stay overnight at a sleep center for a PSG. The test records brain activity, eye movements, heart rate, and blood pressure. + +A PSG also records the amount of oxygen in your blood, how much air is moving through your nose while you breathe, snoring, and chest movements. The chest movements show whether you're making an effort to breathe. + +Your doctor might use the PSG results to help diagnose sleep-related breathing disorders, such as sleep apnea. + +Lung Function Tests + +Lung function tests, also called pulmonary function tests, measure how well your lungs work. For example, these tests show: + +How much air you can take into your lungs. This amount is compared with that of other people your age, height, and sex. This allows your doctor to see whether you're in the normal range. + +How much air you can blow out of your lungs and how fast you can do it. + +How well your lungs deliver oxygen to your blood. + +The strength of your breathing muscles. + +Chest X Ray + +A chest x ray is a test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. This test can help rule out other conditions that might be causing your signs and symptoms. + +EKG (Electrocardiogram) + +An EKG is a test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart. + +The results from an EKG might show whether OHS has affected your heart function. + +Other Tests + +A complete blood count (CBC) can show whether your body is making too many red blood cells as a result of OHS. A CBC measures many parts of your blood, including red blood cells. + +A toxicology screen is a group of tests that shows which medicines and drugs you've taken and how much of them you've taken. A blood or urine sample usually is collected for a toxicology screen.",NHLBI,Obesity Hypoventilation Syndrome +What are the treatments for Obesity Hypoventilation Syndrome ?,"Treatments for obesity hypoventilation syndrome (OHS) include breathing support, weight loss, and medicines. + +The goals of treating OHS may include: + +Supporting and aiding your breathing + +Achieving major weight loss + +Treating underlying and related conditions + +Breathing Support + +Positive Airway Pressure + +Treatment for OHS often involves a machine that provides positive airway pressure (PAP) while you sleep. + +PAP therapy uses mild air pressure to keep your airways open. This treatment can help your body better maintain the carbon dioxide and oxygen levels in your blood. PAP therapy also can help relieve daytime sleepiness. + +Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure). CPAP provides continuous mild air pressure to keep your airways open. BiPAP works almost the same, but it changes the air pressure while you breathe in and out. + +The machines have three main parts: + +A mask or other device that fits over your nose or your nose and mouth. Straps keep the mask in place while you're wearing it. + +A tube that connects the mask to the machine's motor. + +A motor that blows air into the tube. + +Some machines have other features, such as heated humidifiers. The machines are small, lightweight, and fairly quiet. The noise they make is soft and rhythmic. + +Some people who have OHS receive extra oxygen as part of their PAP treatment. However, oxygen therapy alone isn't recommended as a treatment for OHS. + +PAP therapy also is used to treat obstructive sleep apnea. Many people who have OHS also have this common condition. + +If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you pick a machine based on your prescription and the features that meet your needs. + +Ventilator Support + +If you have severe OHS that requires treatment in a hospital, you might be put on a ventilator. A ventilator is a machine that supports breathing. This machine: + +Gets oxygen into your lungs + +Removes carbon dioxide from your body + +Helps you breathe easier + +A ventilator blows air, or air with extra oxygen, into the airways through a breathing tube. One end of the tube is inserted into your windpipe, and the other end is hooked to the ventilator. + +Usually, the breathing tube is put into your nose or mouth and then moved down into your throat. A tube placed like this is called an endotracheal (en-do-TRA-ke-al) tube. Endotracheal tubes are used only in a hospital setting. + +Sometimes the breathing tube is placed through a surgically made hole called a tracheostomy (TRA-ke-OS-toe-me). The hole goes through the front of your neck and into your windpipe. + +The procedure to make a tracheostomy usually is done in an operating room. You'll be given medicine so you won't feel any pain. The tracheostomy allows you to be on a ventilator in the hospital, in a long-term care facility, or at home. + +Talk with your doctor about how long you'll need ventilator support and whether you can receive treatment at home. + +For more information about ventilator support, go to the Health Topics Ventilator/Ventilator Support article. + +Weight Loss + +Your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes. For example, eating fewer calories and being physically active can help you lose weight. + +Medicines and weight-loss surgery might be an option if lifestyle changes aren't enough. Your doctor will advise you on the best weight-loss treatment for you. + +For more information about weight loss, go to the treatment section of the Health Topics Overweight and Obesity article. + +Medicines + +Your doctor may prescribe medicines to treat OHS (although this treatment is less common than others). + +Your doctor also may advise you to avoid certain substances and medicines that can worsen OHS. Examples include alcohol, sedatives, and narcotics. They can interfere with how well your body is able to maintain normal carbon dioxide and oxygen levels. + +If you're having surgery, make sure you tell your surgeon and health care team that you have OHS. Some medicines routinely used for surgery can worsen your condition.",NHLBI,Obesity Hypoventilation Syndrome +How to prevent Obesity Hypoventilation Syndrome ?,"You can prevent obesity hypoventilation syndrome (OHS) by maintaining a healthy weight. However, not everyone who is obese develops OHS. Researchers don't fully know why only some people who are obese develop the condition. + +Adopting healthy habits can help you maintain a healthy weight. Many lifestyle habits begin during childhood. So, it's important to make following a healthy lifestyle a family goal. + +A healthy diet is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, eggs, poultry without skin, seafood, nuts, seeds, beans, and peas. + +A healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber). Examples of refined grains include white rice and white bread. + +For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institute's ""Your Guide to Lowering Your Blood Pressure With DASH"" and the U.S. Department of Agriculture's ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating. + +To adopt other healthy lifestyle habits, follow these tips: + +Focus on portion size. Watch the portion sizes in fast food and other restaurants. The portions served often are enough for two or three people. Children's portion sizes should be smaller than those for adults. Cutting back on portion sizes will help you manage your calorie intake. + +Be physically active. Make personal and family time as active as possible. Find activities that everyone will enjoy. For example, go for a brisk walk, bike or rollerblade, or train together for a walk or run. + +Reduce screen time. Limit the use of TVs, computers, DVDs, and videogames; they cut back on the time for physical activity. Health experts recommend2 hours or less a day of screen time that's not work- or homework-related. + +Keep track of your weight and body mass index (BMI). BMI is calculated from your height and weight. In adults, a BMI of 30 or more is considered obese. You can use the NHLBI's online BMI calculator to figure out your BMI, or your doctor can help you. + +For more information, go to the prevention section of the Health Topics Overweight and Obesity article. + +Even if you have OHS, you might be able to prevent the condition from worsening. For example, avoid alcohol, sedatives, and narcotics. These substances can interfere with how well your body is able to maintain normal carbon dioxide and oxygen levels.",NHLBI,Obesity Hypoventilation Syndrome +What is (are) Cardiomyopathy ?,"Cardiomyopathy refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments. + +In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue. + +As cardiomyopathy worsens, the heart becomes weaker. It's less able to pump blood through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats called arrhythmias. In turn, heart failure can cause fluid to build up in the lungs, ankles, feet, legs, or abdomen. + +The weakening of the heart also can cause other complications, such as heart valve problems. + +Overview + +The types of cardiomyopathy are: + +Hypertrophic cardiomyopathy + +Dilated cardiomyopathy + +Restrictive cardiomyopathy + +Arrhythmogenic right ventricular dysplasia + +Unclassified cardiomyopathy + +Cardiomyopathy can be acquired or inherited. ""Acquired"" means you aren't born with the disease, but you develop it due to another disease, condition, or factor. ""Inherited"" means your parents passed the gene for the disease on to you. Many times, the cause of cardiomyopathy isn't known. + +Cardiomyopathy can affect people of all ages. However, people in certain age groups are more likely to have certain types of cardiomyopathy. This article focuses on cardiomyopathy in adults. + +Outlook + +Some people who have cardiomyopathy have no signs or symptoms and need no treatment. For other people, the disease develops quickly, symptoms are severe, and serious complications occur. + +Treatments for cardiomyopathy include lifestyle changes, medicines, surgery, implanted devices to correct arrhythmias, and a nonsurgical procedure. These treatments can control symptoms, reduce complications, and stop the disease from getting worse.",NHLBI,Cardiomyopathy +What causes Cardiomyopathy ?,"Cardiomyopathy can be acquired or inherited. Acquired means you arent born with the disease, but you develop it due to another disease, condition, or factor. + +Inherited means your parents passed the gene for the disease on to you. Researchers continue to look for the genetic links to cardiomyopathy and to explore how these links cause or contribute to the various types of the disease. + +Many times, the cause of cardiomyopathy isnt known. This often is the case when the disease occurs in children. + +Hypertrophic Cardiomyopathy + +Hypertrophic cardiomyopathy usually is inherited. Its caused by a mutation or change in some of the genes in heart muscle proteins. Hypertrophic cardiomyopathy also can develop over time because of high blood pressure, aging, or other diseases, such as diabetes or thyroid disease. Sometimes the cause of the disease isnt known. + +Dilated Cardiomyopathy + +The cause of dilated cardiomyopathy often isnt known. About one-third of the people who have dilated cardiomyopathy inherit it from their parents. + +Certain diseases, conditions, and substances also can cause the disease, such as: + +Alcohol, especially if you also have a poor diet + +Certain toxins, such as poisons and heavy metals + +Complications during the last months of pregnancy + +Coronary heart disease, heart attack, high blood pressure, diabetes, thyroid disease, viral hepatitis, and HIV + +Illegal drugs, such as cocaine and amphetamines, and some medicines used to treat cancer + +Infections, especially viral infections that inflame the heart muscle + +Restrictive Cardiomyopathy + +Certain diseases, conditions, and factors can cause restrictive cardiomyopathy, including: + +Amyloidosis: A disease in which abnormal proteins build up in the bodys organs, including the heart + +Connective tissue disorders + +Hemochromatosis: A disease in which too much iron builds up in the body. The extra iron is toxic to the body and can damage the organs, including the heart. + +Sarcoidosis: A disease that causes inflammation and can affect various organs in the body. Researchers believe that an abnormal immune response may cause sarcoidosis. This abnormal response causes tiny lumps of cells to form in the bodys organs, including the heart. + +Some cancer treatments, such as radiation and chemotherapy + +Arrhythmogenic Right Ventricular Dysplasia + +Researchers think that arrhythmogenic right ventricular dysplasia is an inherited disease.",NHLBI,Cardiomyopathy +Who is at risk for Cardiomyopathy? ?,"People of all ages and races can have cardiomyopathy. However, certain types of the disease are more common in certain groups. + +Dilated cardiomyopathy is more common in African Americans than Whites. This type of the disease also is more common in men than women. + +Teens and young adults are more likely than older people to have arrhythmogenic right ventricular dysplasia, although it's rare in both groups. + +Major Risk Factors + +Certain diseases, conditions, or factors can raise your risk for cardiomyopathy. Major risk factors include: + +A family history of cardiomyopathy, heart failure, or sudden cardiac arrest (SCA) + +A disease or condition that can lead to cardiomyopathy, such as coronary heart disease, heart attack, or a viral infection that inflames the heart muscle + +Diabetes or other metabolic diseases, or severe obesity + +Diseases that can damage the heart, such as hemochromatosis, sarcoidosis, or amyloidosis + +Long-term alcoholism + +Long-term high blood pressure + +Some people who have cardiomyopathy never have signs or symptoms. Thus, it's important to identify people who may be at high risk for the disease. This can help prevent future problems, such as serious arrhythmias (irregular heartbeats) or SCA.",NHLBI,Cardiomyopathy +What are the symptoms of Cardiomyopathy ?,"Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease. + +As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include: + +Shortness of breath or trouble breathing, especially with physical exertion + +Fatigue (tiredness) + +Swelling in the ankles, feet, legs, abdomen, and veins in the neck + +Other signs and symptoms may include dizziness; light-headedness; fainting during physical activity; arrhythmias (irregular heartbeats); chest pain, especially after physical exertion or heavy meals; and heart murmurs. (Heart murmurs are extra or unusual sounds heard during a heartbeat.)",NHLBI,Cardiomyopathy +How to diagnose Cardiomyopathy ?,"Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam, and the results from tests and procedures. + +Specialists Involved + +Often, a cardiologist or pediatric cardiologist diagnoses and treats cardiomyopathy. A cardiologist specializes in diagnosing and treating heart diseases. A pediatric cardiologist is a cardiologist who treats children. + +Medical and Family Histories + +Your doctor will want to learn about your medical history. He or she will want to know what signs and symptoms you have and how long you've had them. + +Your doctor also will want to know whether anyone in your family has had cardiomyopathy, heart failure, or sudden cardiac arrest. + +Physical Exam + +Your doctor will use a stethoscope to listen to your heart and lungs for sounds that may suggest cardiomyopathy. These sounds may even suggest a certain type of the disease. + +For example, the loudness, timing, and location of a heart murmur may suggest obstructive hypertrophic cardiomyopathy. A ""crackling"" sound in the lungs may be a sign of heart failure. (Heart failure often develops in the later stages of cardiomyopathy.) + +Physical signs also help your doctor diagnose cardiomyopathy. Swelling of the ankles, feet, legs, abdomen, or veins in your neck suggests fluid buildup, a sign of heart failure. + +Your doctor may notice signs and symptoms of cardiomyopathy during a routine exam. For example, he or she may hear a heart murmur, or you may have abnormal test results. + +Diagnostic Tests + +Your doctor may recommend one or more of the following tests to diagnose cardiomyopathy. + +Blood Tests + +During a blood test, a small amount of blood is taken from your body. It's often drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort. + +Blood tests give your doctor information about your heart and help rule out other conditions. + +Chest X Ray + +A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. This test can show whether your heart is enlarged. A chest x ray also can show whether fluid is building up in your lungs. + +EKG (Electrocardiogram) + +An EKG is a simple test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +This test is used to detect and study many heart problems, such as heart attacks, arrhythmias (irregular heartbeats), and heart failure. EKG results also can suggest other disorders that affect heart function. + +A standard EKG only records the heartbeat for a few seconds. It won't detect problems that don't happen during the test. + +To diagnose heart problems that come and go, your doctor may have you wear a portable EKG monitor. The two most common types of portable EKGs are Holter and event monitors. + +Holter and Event Monitors + +Holter and event monitors are small, portable devices. They record your heart's electrical activity while you do your normal daily activities. A Holter monitor records the heart's electrical activity for a full 24- or 48-hour period. + +An event monitor records your heart's electrical activity only at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +Echocardiography + +Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. The picture shows how well your heart is working and its size and shape. + +There are several types of echo, including stress echo. This test is done as part of a stress test (see below). Stress echo can show whether you have decreased blood flow to your heart, a sign of coronary heart disease. + +Another type of echo is transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE. TEE provides a view of the back of the heart. + +For this test, a sound wave wand is put on the end of a special tube. The tube is gently passed down your throat and into your esophagus (the passage leading from your mouth to your stomach). Because this passage is right behind the heart, TEE can create detailed pictures of the heart's structures. + +Before TEE, you're given medicine to help you relax, and your throat is sprayed with numbing medicine. + +Stress Test + +Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast while heart tests are done. + +These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. + +Diagnostic Procedures + +You may have one or more medical procedures to confirm a diagnosis or to prepare for surgery (if surgery is planned). These procedures may include cardiac catheterization (KATH-e-ter-i-ZA-shun), coronary angiography (an-jee-OG-ra-fee), or myocardial (mi-o-KAR-de-al) biopsy. + +Cardiac Catheterization + +This procedure checks the pressure and blood flow in your heart's chambers. The procedure also allows your doctor to collect blood samples and look at your heart's arteries using x-ray imaging. + +During cardiac catheterization, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. This allows your doctor to study the inside of your arteries for blockages. + +Coronary Angiography + +This procedure often is done with cardiac catheterization. During the procedure, dye that can be seen on an x ray is injected into your coronary arteries. The dye lets your doctor study blood flow through your heart and blood vessels. + +Dye also may be injected into your heart chambers. This allows your doctor to study the pumping function of your heart. + +Myocardial Biopsy + +For this procedure, your doctor removes a piece of your heart muscle. This can be done during cardiac catheterization. The heart muscle is studied under a microscope to see whether changes in cells have occurred. These changes may suggest cardiomyopathy. + +Myocardial biopsy is useful for diagnosing some types of cardiomyopathy. + +Genetic Testing + +Some types of cardiomyopathy run in families. Thus, your doctor may suggest genetic testing to look for the disease in your parents, brothers and sisters, or other family members. + +Genetic testing can show how the disease runs in families. It also can find out the chances of parents passing the genes for the disease on to their children. + +Genetic testing also may be useful if your doctor thinks you have cardiomyopathy, but you don't yet have signs or symptoms. If the test shows you have the disease, your doctor can start treatment early, when it may work best.",NHLBI,Cardiomyopathy +What are the treatments for Cardiomyopathy ?,"People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may go away on its own. For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. Treatments may include: + +Heart-healthy lifestyle changes + +Medicines + +Nonsurgical procedure + +Surgery and implanted devices + +The main goals of treating cardiomyopathy include: + +Controlling signs and symptoms so that you can live as normally as possible + +Managing any conditions that cause or contribute to the disease + +Reducing complications and the risk of sudden cardiac arrest + +Stopping the disease from getting worse + +Heart-Healthy Lifestyle Changes + +Your doctor may suggest lifestyle changes to manage a condition thats causing your cardiomyopathy including: + +Heart-healthy eating + +Maintaining a healthy weight + +Managing stress + +Physical activity + +Quitting smoking + +Heart-Healthy Eating + +Your doctor may recommend heart-healthy eating, which should include: + +Fat-free or low-fat dairy products, such as fat-free milk + +Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week + +Fruits, such as apples, bananas, oranges, pears, and prunes + +Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans + +Vegetables, such as broccoli, cabbage, and carrots + +Whole grains, such as oatmeal, brown rice, and corn tortillas + +When following a heart-healthy diet, you should avoid eating: + +A lot of red meat + +Palm and coconut oils + +Sugary foods and beverages + +Two nutrients in your diet make blood cholesterol levels rise: + +Saturated fatfound mostly in foods that come from animals + +Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats such as stick margarine;baked goods such as, cookies, cakes, and pies, crackers, frostings, and coffee creamers. Some trans fats also occur naturally in animal fats and meats. + +Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples: + +Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels. + +Some sources of monounsaturated and polyunsaturated fats are: + +Avocados + +Corn, sunflower, and soybean oils + +Nuts and seeds, such as walnuts + +Olive, canola, peanut, safflower, and sesame oils + +Peanut butter + +Salmon and trout + +Tofu + +Sodium + +Try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. + +Dietary Approaches to Stop Hypertension + +Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt. + +The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH. + +Alcohol + +Talk to your doctor about how much alcohol you drink. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. Your doctor may recommend that you reduce the amount of alcohol you drinkor stop drinking alcohol. + + + +Maintaining a Healthy Weight + +Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active. + +Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) onlineBMI calculatoror talk to your doctor.A BMI: + +Below 18.5 is a sign that you are underweight. + +Between 18.5 and 24.9 is in the normal range. + +Between 25 and 29.9 is considered overweight. + +Of 30 or more is considered obese. + +A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal. + +Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visitAssessing Your Weight and Health Risk. + +If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol. + + + +Managing Stress + +Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. + +Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.Consider healthy stress-reducing activities, such as: + +A stress management program + +Meditation + +Physical activity + +Relaxation therapy + +Talking things out with friends or family + + + +Physical Activity + +Routine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease. + +Everyone should try to participate in moderate intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous intensity aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats fasterand you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week. + +Read more about physical activity at: + +Physical Activity and Your Heart + +U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans + +Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you. + + + +Quitting Smoking + +If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. + +If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. + +Read more about quitting smoking at Smoking and Your Heart. + + + +Medicines + +Many medicines are used to treat cardiomyopathy. Your doctor may prescribe medicines to: + +Balance electrolytes in your body. Electrolytes are minerals that help maintain fluid levels and acid-base balance in the body. They also help muscle and nerve tissues work properly. Abnormal electrolyte levels may be a sign of dehydration (lack of fluid in your body), heart failure, high blood pressure, or other disorders. Aldosterone blockers are an example of a medicine used to balance electrolytes. + +Keep your heart beating with a normal rhythm. These medicines, called antiarrhythmics, help prevent arrhythmias. + +Lower your blood pressure. ACE inhibitors, angiotensin II receptor blockers, beta blockers, and calcium channel blockers are examples of medicines that lower blood pressure. + +Prevent blood clots from forming. Anticoagulants, or blood thinners, are an example of a medicine that prevents blood clots. Blood thinners often are used to prevent blood clots from forming in people who have dilated cardiomyopathy. + +Reduce inflammation. Corticosteroids are an example of a medicine used to reduce inflammation. + +Remove excess sodium from your body. Diuretics, or water pills, are an example of medicines that help remove excess sodium from the body, which reduces the amount of fluid in your blood. + +Slow your heart rate. Beta blockers, calcium channel blockers, and digoxin are examples of medicines that slow the heart rate. Beta blockers and calcium channel blockers also are used to lower blood pressure. + +Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. + +Surgery and Implanted Devices + +Doctors use several types of surgery to treat cardiomyopathy, including septal myectomy, surgically implanted devices, and heart transplant. + +Septal Myectomy + +Septal myectomy is open-heart surgery and is used to treat people who have hypertrophic cardiomyopathy and severe symptoms. This surgery generally is used for younger patients and for people whose medicines arent working well. + +A surgeon removes part of the thickened septum thats bulging into the left ventricle. This improves blood flow through the heart and out to the body. The removed tissue doesnt grow back. If needed, the surgeon also can repair or replace the mitral valve at the same time. Septal myectomy often is successful and allows you to return to a normal life with nosymptoms. + +Surgically Implanted Devices + +Surgeons can place several types of devices in the heart to improve function and symptoms, including: + +Cardiac resynchronization therapy (CRT) device. A CRT device coordinates contractions between the hearts left and right ventricles. + +Implantable cardioverter defibrillator(ICD). An ICD helps control life-threatening arrhythmias that may lead tosudden cardiac arrest. This small device is implanted in the chest or abdomen and connected to the heart with wires. If an ICD senses a dangerous change in heart rhythm, it will send an electric shock to the heart to restore a normal heartbeat. + +Left ventricular assist device (LVAD). This device helps the heart pump blood to the body. An LVAD can be used as a long-term therapy or as a short-term treatment for people who are waiting for a heart transplant. + +Pacemaker. This small device is placed under the skin of your chest or abdomen to help control arrhythmias. The device uses electrical pulses to prompt the heart to beat at a normal rate. + +Heart Transplant + +For this surgery, a surgeon replaces a persons diseased heart with a healthy heart from a deceased donor. A heart transplant is a last resort treatment for people who have end-stage heart failure. End-stage means the condition has become so severe that all treatments, other than heart transplant, have failed. For more information about this treatment, go to the Heart Transplant Health Topic. + +Nonsurgical Procedure + +Doctors may use a nonsurgical procedure called alcohol septal ablation to treat cardiomyopathy. During this procedure, the doctor injects ethanol (a type of alcohol) through a tube into the small artery that supplies blood to the thickened area of heart muscle. The alcohol kills cells, and the thickened tissue shrinks to a more normal size. This procedure allows blood to flow freely through the ventricle, which improves symptoms.",NHLBI,Cardiomyopathy +How to prevent Cardiomyopathy ?,"You can't prevent inherited types of cardiomyopathy. However, you can take steps to lower your risk for diseases or conditions that may lead to or complicate cardiomyopathy. Examples includecoronary heart disease,high blood pressure, andheart attack. + +Your doctor may advise you to make heart-healthy lifestyle changes, such as: + +Avoiding the use of alcohol and illegal drugs + +Getting enough sleep and rest + +Heart-healthy eating + +Physicalactivity + +Quitting smoking + +Managing stress + +Your cardiomyopathy may be due to an underlying disease or condition. If you treat that condition early enough, you may be able to prevent cardiomyopathy complications. For example, to control high blood pressure,high blood cholesterol, and diabetes: + +Follow your doctors advice about lifestyle changes. + +Get regular checkups with your doctor. + +Take all of your medicines as your doctor prescribes.",NHLBI,Cardiomyopathy +What is (are) Glossopharyngeal Neuralgia ?,"Glossopharyngeal neuralgia (GN) is a rare pain syndrome that affects the glossopharyngeal nerve (the ninth cranial nerve that lies deep within the neck) and causes sharp, stabbing pulses of pain in the back of the throat and tongue, the tonsils, and the middle ear. The excruciating pain of GN can last for a few seconds to a few minutes, and may return multiple times in a day or once every few weeks. Many individuals with GN relate the attacks of pain to specific trigger factors such as swallowing, drinking cold liquids, sneezing, coughing, talking, clearing the throat, and touching the gums or inside the mouth. GN can be caused by compression of the glossopharyngeal nerve, but in some cases, no cause is evident. Like trigeminal neuralgia, it is associated with multiple sclerosis. GN primarily affects the elderly.",NINDS,Glossopharyngeal Neuralgia +What are the treatments for Glossopharyngeal Neuralgia ?,"Most doctors will attempt to treat the pain first with drugs. Some individuals respond well to anticonvulsant drugs, such as carbamazepine and gabapentin. Surgical options, including nerve resection, tractotomy, or microvascular decompression, should be considered when individuals either dont respond to, or stop responding to, drug therapy. Surgery is usually successful at ending the cycles of pain, although there may be some sensory loss in the mouth, throat, or tongue.",NINDS,Glossopharyngeal Neuralgia +What is the outlook for Glossopharyngeal Neuralgia ?,"Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack.",NINDS,Glossopharyngeal Neuralgia +what research (or clinical trials) is being done for Glossopharyngeal Neuralgia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to GN and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as GN.",NINDS,Glossopharyngeal Neuralgia +What is (are) Arteriovenous Malformation ?,"Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins. These malformations most often occur in the spinal cord and in any part of the brain or on its surface, but can develop elsewhere in the body. AVMs can damage the brain and spinal cord by reducing the amount of oxygen reaching neurological tissues, bleeding into surrounding tissue (hemorrhage) that can cause stroke or brain damage, and by compressing or displacing parts of the brain or spinal cord. Many people with an AVM experience few, if any, significant symptoms, which can include headache, weakness, seizures, pain, and problems with speech, vision, or movement. Most often AVMs are congenital, but they can appear sporadically. In some cases the AVM may be inherited, but it is more likely that other inherited conditions increase the risk of having an AVM. The malformations tend to be discovered only incidentally, usually during treatment for an unrelated disorder or at autopsy.",NINDS,Arteriovenous Malformation +What are the treatments for Arteriovenous Malformation ?,"Treatment options depend on the type of AVM, its location, noticeable symptoms, and the general health condition of the individual. Medication can often alleviate general symptoms such as headache, back pain, and seizures caused by AVMs and other vascular lesions. The definitive treatment for AVMs is either surgery to either remove the AVM or to create an artificial blood clot to close the lesion or focused irradiation treatment that is designed to damage the blood vessel walls and close the lesion. The decision to treat an AVM requires a careful consideration of possible benefits versus risks.",NINDS,Arteriovenous Malformation +What is the outlook for Arteriovenous Malformation ?,"The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage. Individuals who are treated require brain imaging afterwards to evaluate if the AVM has been completely removed or destroyed. The risk of hemorrhage remains if some of the AVM persists despite treatment.",NINDS,Arteriovenous Malformation +what research (or clinical trials) is being done for Arteriovenous Malformation ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS has established an Arteriovenous Study Group to learn more about the natural causes of AVMs and to improve surgical treatment of these lesions. An NINDS study at Columbia University, A Randomized Trial of Unruptured Brain AVMs (ARUBA), showed that medical management alone is superior to medical management and interventional therapy (conventional surgery, endovascular procedures, and radiosurgery) for improving the long-term outcome of individuals with unruptured brain arteriovenous malformations. Data from a recently closed observational phase will show if the disparities continued over the additional five years of follow-up. + +Among other NINDS-funded research, scientists are testing a class of drugs called beta-blockers to see if they may lead to the development of new treatments for people with vascular malformations. Other NINDS-funded investigators hope to develop biomarkers (signs that may indicate risk of a disease) for AVM that may improve risk assessment and aid in the choice of therapy that may provide maximize benefit with minimal risk to the individual. Additional NINDS-funded research hopes to determine molecular pathways fundamental to the formation of brain AVMs.",NINDS,Arteriovenous Malformation +What is (are) Myotonia ?,"Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.",NINDS,Myotonia +What are the treatments for Myotonia ?,"Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function.",NINDS,Myotonia +What is the outlook for Myotonia ?,Myotonia is a chronic disorder. Symptoms may improve later in life.,NINDS,Myotonia +what research (or clinical trials) is being done for Myotonia ?,"The National Institute of Neurological Disorders and Stroke supports and conducts an extensive research program on neuromuscular disorders. The goals of this research are to learn more about these disorders and to find ways to treat, prevent, and cure them.",NINDS,Myotonia +What is (are) Locked-In Syndrome ?,"Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements",NINDS,Locked-In Syndrome +What are the treatments for Locked-In Syndrome ?,"There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.",NINDS,Locked-In Syndrome +What is the outlook for Locked-In Syndrome ?,"While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited.",NINDS,Locked-In Syndrome +what research (or clinical trials) is being done for Locked-In Syndrome ?,"The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.",NINDS,Locked-In Syndrome +What is (are) Arachnoid Cysts ?,"Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Primary arachnoid cysts are present at birth and are the result of developmental abnormalities in the brain and spinal cord that arise during the early weeks of gestation. Secondary arachnoid cysts are not as common as primary cysts and develop as a result of head injury, meningitis, or tumors, or as a complication of brain surgery. The majority of arachnoid cysts form outside the temporal lobe of the brain in an area of the skull known as the middle cranial fossa. Arachnoid cysts involving the spinal cord are rarer. The location and size of the cyst determine the symptoms and when those symptoms begin. Most individuals with arachnoid cysts develop symptoms before the age of 20, and especially during the first year of life, but some people with arachnoid cysts never have symptoms. Males are four times more likely to have arachnoid cysts than females. + +Typical symptoms of an arachnoid cyst around the brain include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo, and difficulties with balance and walking. Arachnoid cysts around the spinal cord compress the spinal cord or nerve roots and cause symptoms such as progressive back and leg pain and tingling or numbness in the legs or arms. Diagnosis usually involves a brain scan or spine scan using diffusion-weighted MRI (magnetic resonance imaging) which helps distinguish fluid-filled arachnoid cysts from other types of cysts.",NINDS,Arachnoid Cysts +What are the treatments for Arachnoid Cysts ?,"There has been active debate about how to treat arachnoid cysts. The need for treatment depends mostly upon the location and size of the cyst. If the cyst is small, not disturbing surrounding tissue, and not causing symptoms, some doctors will refrain from treatment. In the past, doctors placed shunts in the cyst to drain its fluid. Now with microneurosurgical techniques and endoscopic tools that allow for minimally invasive surgery, more doctors are opting to surgically remove the membranes of the cyst or open the cyst so its fluid can drain into the cerebrospinal fluid and be absorbed.",NINDS,Arachnoid Cysts +What is the outlook for Arachnoid Cysts ?,"Untreated, arachnoid cysts may cause permanent severe neurological damage when progressive expansion of the cyst(s) or bleeding into the cyst injures the brain or spinal cord. Symptoms usually resolve or improve with treatment.",NINDS,Arachnoid Cysts +what research (or clinical trials) is being done for Arachnoid Cysts ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to brain abnormalities and disorders of the nervous system such as arachnoid cysts in laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as arachnoid cysts.",NINDS,Arachnoid Cysts +What is (are) Congenital Myasthenia ?,"All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly. + +The most common type of myasthenia, myasthenia gravis, is caused by an abnormal immune response in which antibodies block the ability of the muscle to detect the neurotransmitter. Congenital myasthenia, however, differs from myasthenia gravis because the disrupted communication isn't caused by antibodies, but by genetic defects. + +There are several different subtypes of congenital myasthenia, each the result of a specific genetic mutation. Since all types of myasthenia are due to the inability of nerves to trigger muscle activity, they all involve weakness, although there is some variability in the specific muscles affected. + +Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, occasionally remaining unrecognized until adulthood. If the symptoms begin in infancy, they usually appear as ""floppiness"" and a failure to meet developmental milestones, such as rolling over or sitting up. Some infants may also have episodes of choking or pauses in breathing. If the symptoms begin in toddlers or preschool children, they appear as weakness during physical activities or an inability to perform age-appropriate actions, such as running or climbing. In addition, if eye muscles are involved, children may have droopy eyelids, ""lazy eye,"" or double vision. If mouth or throat muscles are involved, children may have difficulty speaking or swallowing. An important characteristic of myasthenia is that the weakness worsens during continuous activity, with strength returning, at least partially, after resting. + +Congenital myasthenia is an inherited (genetic) disorder. All but one known subtype are recessive disorders, which means that a child will have to have two copies of the abnormal gene (one from each parent) in order to develop the disease. To diagnose congenital myasthenia, a neurologist will test various muscles to determine if they grow weaker with repeated activity. The doctor will also test the electrical activity of nerves and muscles using electromyography (EMG) and nerve conduction tests (NCS). Blood tests are often used to determine if antibodies could be causing the symptoms. Genetic tests may be ordered.",NINDS,Congenital Myasthenia +What are the treatments for Congenital Myasthenia ?,"The possibilities for treatment depend on the specific subtype of congenital myasthenia. Most treatments attempt to improve the signaling between nerve cell and muscle. These drugs include pyridostigmine, fluoxetine, ephedrine, and 3,4-diaminopyridine. Treatments to alter the immune system are not used for this form of myasthenia. There are no treatments to cure the underlying genetic abnormality.",NINDS,Congenital Myasthenia +What is the outlook for Congenital Myasthenia ?,"The prognosis depends on the specific subtype of congenital myasthenia, the muscles involved, and the age at onset of symptoms. If a child has difficulty breathing, feeding, or swallowing, they may be vulnerable to pneumonia or respiratory failure. In other cases, weakness is stable and does not worsen over time. In one subtype, weakness improves with time. Life-span is normal in most cases in which respiratory function is not compromised.",NINDS,Congenital Myasthenia +what research (or clinical trials) is being done for Congenital Myasthenia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to congenital myasthenia through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure disorders such as congenital myasthenia.",NINDS,Congenital Myasthenia +What is (are) Neuromyelitis Optica ?,"Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord. It is sometimes also referred to as NMO spectrum disorder.In NMO, the body's immune system mistakenly attacks healthy cells and proteins in the body, must often those in the spinal cord and eyes. Individuals with NMO develop optic neuritis, which caused pain in the eye and vision loss. Individuals also develop transverse myelitis, which causes weakness or paralysis of arms and legs,and numbness, along with loss of bladder and bowel control Magnetic resonance imaging of the spine often shows an abnormality that extends over long segments of the spinal cord. Individuals may also develop episodes of severe nausea and vomiting, with hiccups from involvement of a part of the brain that ocntrols vomiting The disease is caused by abnormal autoantibodies that bind to a protein called aquaporin-4. Binding of the aquaporin-4 antibody activates other components of the immune system, causing inflammation and damage to these cells. This also results in the brain and spinal cord the loss of myelin, the fatty substance that acts as insulation around nerve fibers and helps nerve signals move from cell to cell. + +NMO is different from multiple sclerosis (MS). Attacks are usually more severe in NMO than in MS, and NMO is treated differently than MS. Most individuals with NMO experience clusters of attacks days to months or years apart, followed by partial recovery during periods of remission. Women are more often affected by NMO than men. African Americans are at greater risk of the disease than are Caucasians. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.",NINDS,Neuromyelitis Optica +What are the treatments for Neuromyelitis Optica ?,"There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). Immunosuppressvie drugs used to prevent attacks include mycophenolate mofetil, rituximab, and azathioprine. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with medicaitons and therapies. Individuals with major disability will require the combined efforts to physical and occupational therapists, along with social services professionals to address complex rehabilitation needs.",NINDS,Neuromyelitis Optica +What is the outlook for Neuromyelitis Optica ?,"Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.",NINDS,Neuromyelitis Optica +what research (or clinical trials) is being done for Neuromyelitis Optica ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.",NINDS,Neuromyelitis Optica +What is (are) Cerebral Hypoxia ?,"Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration.",NINDS,Cerebral Hypoxia +What are the treatments for Cerebral Hypoxia ?,"Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures.",NINDS,Cerebral Hypoxia +What is the outlook for Cerebral Hypoxia ?,"Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the chances of death or brain death and the lower the chances of a meaningful recovery. During recovery, psychological and neurological abnormalities such as amnesia, personality regression, hallucinations, memory loss, and muscle spasms and twitches may appear, persist, and then resolve.",NINDS,Cerebral Hypoxia +what research (or clinical trials) is being done for Cerebral Hypoxia ?,"The NINDS supports and conducts studies aimed at understanding neurological conditions that can damage the brain, such as cerebral hypoxia. The goals of these studies are to find ways to prevent and treat these conditions.",NINDS,Cerebral Hypoxia +What is (are) Essential Tremor ?,"Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs.) Although it may be mild and nonprogressive in some people, in others the tremor is slowly progressive, starting on one side of the body but eventually affecting both sides. Hand tremor is most common but the head, arms, voice, tongue, legs, and trunk may also be involved. Hand tremor may cause problems with purposeful movements such as eating, writing, sewing, or shaving. Head tremor may be seen as a ""yes-yes"" or ""no-no"" motion. Essential tremor may be accompanied by mild gait disturbance. Heightened emotion, stress, fever, physical exhaustion, or low blood sugar may trigger tremors or increase their severity. There may be mild degeneration in the certain parts of the cerebellum in persons with essential tremor. Onset is most common after age 40, although symptoms can appear at any age. Children of a parent who has essential tremor have up to a 50 percent chance of inheriting the condition. Essential tremor is not associated with any known pathology.",NINDS,Essential Tremor +What are the treatments for Essential Tremor ?,"There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. Physical and occupational therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Deep brain stimulation uses a surgically implanted, battery-operated medical device called a neurostimulator to delivery electrical stimulation to targeted areas of the brain that control movement, temporarily blocking the nerve signals that cause tremor. Other surgical intervention is effective but may have side effects.",NINDS,Essential Tremor +What is the outlook for Essential Tremor ?,"Although essential tremor is not life-threatening, it can make it harder to perform daily tasks and is embarrassing to some people. Tremor frequency may decrease as the person ages, but the severity may increase, affecting the person's ability to perform certain tasks or activities of daily living. In many people the tremor may be mild throughout life.",NINDS,Essential Tremor +what research (or clinical trials) is being done for Essential Tremor ?,"The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. + +Scientists at the NINDS are evaluating the effectiveness of 1-octanol, a substance similar to alcohol but less intoxicating, for treating essential tremor. Results of two previous NIH studies have shown this agent to be promising as a potential new treatment. + +Scientists are also studying the effectiveness of botulinum toxin as a treatment for a variety of involuntary movement disorders, including essential tremor of the hand.",NINDS,Essential Tremor +What is (are) Paresthesia ?,"Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. Most people have experienced temporary paresthesia -- a feeling of ""pins and needles"" -- at some time in their lives when they have sat with legs crossed for too long, or fallen asleep with an arm crooked under their head. It happens when sustained pressure is placed on a nerve. The feeling quickly goes away once the pressure is relieved. Chronic paresthesia is often a symptom of an underlying neurological disease or traumatic nerve damage. Paresthesia can be caused by disorders affecting the central nervous system, such as stroke and transient ischemic attacks (mini-strokes), multiple sclerosis, transverse myelitis, and encephalitis. A tumor or vascular lesion pressed up against the brain or spinal cord can also cause paresthesia. Nerve entrapment syndromes, such as carpal tunnel syndrome, can damage peripheral nerves and cause paresthesia accompanied by pain. Diagnostic evaluation is based on determining the underlying condition causing the paresthetic sensations. An individual's medical history, physical examination, and laboratory tests are essential for the diagnosis. Physicians may order additional tests depending on the suspected cause of the paresthesia.",NINDS,Paresthesia +What are the treatments for Paresthesia ?,The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause.,NINDS,Paresthesia +What is the outlook for Paresthesia ?,The prognosis for those with paresthesia depends on the severity of the sensations and the associated disorders.,NINDS,Paresthesia +what research (or clinical trials) is being done for Paresthesia ?,"The NINDS supports research on disorders of the brain, spinal cord, and peripheral nerves that can cause paresthesia. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.",NINDS,Paresthesia +What is (are) Microcephaly ?,"Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol; became infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood). Microcephaly is associated with Downs syndrome, chromosomal syndromes, and neurometabolic syndromes. + +With viral-induced brain injury, such as with the Zika virus, there is often widespread tissue and cell death leading to brain shrinkage rather than simply impaired growth. The Zika virus is also associated with retinal lesions in about a third of cases, often leading to blindness. + +Depending on the severity of the accompanying syndrome, children with microcephaly may have impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.",NINDS,Microcephaly +What are the treatments for Microcephaly ?,"There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.",NINDS,Microcephaly +What is the outlook for Microcephaly ?,"Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they may track below the normal growth curves for head circumference. Some children may have only mild disability, while those with more severe cases may face significant learning disabilities, cognitive delays, or develop other neurological disorders. Many, if not most, cases if Zika microcephaly will be very severe, possibly requiring lifelong intensive care.",NINDS,Microcephaly +what research (or clinical trials) is being done for Microcephaly ?,"The National Institute of Neurological Disorders and Stroke (NINDS), one of several institutes of the National Institutes of Health (NIH), conducts and funds research aimed at understanding normal brain development, as well as disease-related disorders of the brain and nervous system. Other NIH institutes and centers also support research on disorders that may affect development. Among several projects, scientists are studying genetic mechanisms and identifying novel genes involved with brain development. Animal models are helping scientists to better understand the pathology of human disease, and to discover how the sizes of tissues and organs are impacted by developmental variability. Other researchers hope to gain a better understanding of normal brain development and the molecular and cellular mechanisms of microcephaly.",NINDS,Microcephaly +What is (are) Neuroleptic Malignant Syndrome ?,"Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. In most cases, the disorder develops within the first 2 weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people taking anti-Parkinsonism drugs known as dopaminergics if those drugs are discontinued abruptly.",NINDS,Neuroleptic Malignant Syndrome +What are the treatments for Neuroleptic Malignant Syndrome ?,"Generally, intensive care is needed. The neuroleptic or antipsychotic drug is discontinued, and the fever is treated aggressively. A muscle relaxant may be prescribed. Dopaminergic drugs, such as a dopamine agonist, have been reported to be useful.",NINDS,Neuroleptic Malignant Syndrome +What is the outlook for Neuroleptic Malignant Syndrome ?,"Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. Another alternative is to substitute another class of drugs for the neuroleptic. Anesthesia may be a risk to individuals who have experienced neuroleptic malignant syndrome.",NINDS,Neuroleptic Malignant Syndrome +what research (or clinical trials) is being done for Neuroleptic Malignant Syndrome ?,The NINDS supports research on neurological disorders such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder.,NINDS,Neuroleptic Malignant Syndrome +What is (are) Hereditary Neuropathies ?,"Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.",NINDS,Hereditary Neuropathies +What are the treatments for Hereditary Neuropathies ?,"There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.",NINDS,Hereditary Neuropathies +What is the outlook for Hereditary Neuropathies ?,The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details about the disease and prognosis.,NINDS,Hereditary Neuropathies +what research (or clinical trials) is being done for Hereditary Neuropathies ?,"The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.",NINDS,Hereditary Neuropathies +What is (are) Narcolepsy ?,"Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts ofsleep. If the urge becomes overwhelming, individuals will fall asleep for periods lasting from a few seconds to several minutes. In rare cases, some people may remain asleep for an hour or longer. In addition to excessive daytime sleepiness (EDS), three other major symptoms frequently characterize narcolepsy: cataplexy, or the sudden loss of voluntary muscle tone; vivid hallucinations during sleep onset or upon awakening; and brief episodes of total paralysis at the beginning or end of sleep. Narcolepsy is not definitively diagnosed in most patients until 10 to 15 years after the first symptoms appear. The cause of narcolepsy remains unknown. It is likely that narcolepsy involves multiple factors interacting to cause neurological dysfunction and sleep disturbances.",NINDS,Narcolepsy +What are the treatments for Narcolepsy ?,"There is no cure for narcolepsy. In 1999, after successful clinical trial results, the U.S. Food and Drug Administration (FDA) approved a drug called modafinil for the treatment of EDS. Two classes of antidepressant drugs have proved effective in controlling cataplexy in many patients: tricyclics (including imipramine, desipramine, clomipramine, and protriptyline) and selective serotonin reuptake inhibitors (including fluoxetine and sertraline). Drug therapy should be supplemented by behavioral strategies. For example, many people with narcolepsy take short, regularly scheduled naps at times when they tend to feel sleepiest. Improving the quality of nighttime sleep can combat EDS and help relieve persistent feelings of fatigue. Among the most important common-sense measures people with narcolepsy can take to enhance sleep quality are actions such as maintaining a regular sleep schedule, and avoiding alcohol and caffeine-containing beverages before bedtime. The drug Xyrem (sodium oxybate or gamma hydroxybutyrate, also known as GHB) was approved in July 2002 for treating cataplexy and in November 2005 for EDS in people who have narcolepsy. Due to safety concerns associated with the use of this drug, the distribution of Xyrem is tightly restricted.",NINDS,Narcolepsy +What is the outlook for Narcolepsy ?,"None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. Whatever the age of onset, patients find that the symptoms tend to get worse over the two to three decades after the first symptoms appear. Many older patients find that some daytime symptoms decrease in severity after age 60.",NINDS,Narcolepsy +what research (or clinical trials) is being done for Narcolepsy ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. The NINDS continues to support investigations into the basic biology of sleep, including the brain mechanisms involved in generating and regulating sleep. Within the National Heart, Lung, and Blood Institute, also a component of the NIH, the National Center on Sleep Disorders Research (NCSDR) coordinates Federal government sleep research activities and shares information with private and nonprofit groups.",NINDS,Narcolepsy +What is (are) Gerstmann-Straussler-Scheinker Disease ?,"Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.",NINDS,Gerstmann-Straussler-Scheinker Disease +What are the treatments for Gerstmann-Straussler-Scheinker Disease ?,"There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible.",NINDS,Gerstmann-Straussler-Scheinker Disease +What is the outlook for Gerstmann-Straussler-Scheinker Disease ?,"GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.",NINDS,Gerstmann-Straussler-Scheinker Disease +what research (or clinical trials) is being done for Gerstmann-Straussler-Scheinker Disease ?,"The NINDS supports and conducts research on TSEs, including GSS. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.",NINDS,Gerstmann-Straussler-Scheinker Disease +What is (are) Infantile Refsum Disease ?,"Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers.. IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood. Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin. At the mildest extreme of the disorder, intellect may be preserved. Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different gene defects.",NINDS,Infantile Refsum Disease +What are the treatments for Infantile Refsum Disease ?,"The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.",NINDS,Infantile Refsum Disease +What is the outlook for Infantile Refsum Disease ?,"IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.",NINDS,Infantile Refsum Disease +what research (or clinical trials) is being done for Infantile Refsum Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure disorders such as the PBDs.",NINDS,Infantile Refsum Disease +What is (are) Chronic Pain ?,"While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years. There may have been an initial mishap -- sprained back, serious infection, or there may be an ongoing cause of pain -- arthritis, cancer, ear infection, but some people suffer chronic pain in the absence of any past injury or evidence of body damage. Many chronic pain conditions affect older adults. Common chronic pain complaints include headache, low back pain, cancer pain, arthritis pain, neurogenic pain (pain resulting from damage to the peripheral nerves or to the central nervous system itself), psychogenic pain (pain not due to past disease or injury or any visible sign of damage inside or outside the nervous system). A person may have two or more co-existing chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.",NINDS,Chronic Pain +What are the treatments for Chronic Pain ?,"Medications, acupuncture, local electrical stimulation, and brain stimulation, as well as surgery, are some treatments for chronic pain. Some physicians use placebos, which in some cases has resulted in a lessening or elimination of pain. Psychotherapy, relaxation and medication therapies, biofeedback, and behavior modification may also be employed to treat chronic pain.",NINDS,Chronic Pain +What is the outlook for Chronic Pain ?,Many people with chronic pain can be helped if they understand all the causes of pain and the many and varied steps that can be taken to undo what chronic pain has done. Scientists believe that advances in neuroscience will lead to more and better treatments for chronic pain in the years to come.,NINDS,Chronic Pain +what research (or clinical trials) is being done for Chronic Pain ?,"Clinical investigators have tested chronic pain patients and found that they often have lower-than-normal levels of endorphins in their spinal fluid. Investigations of acupuncture include wiring the needles to stimulate nerve endings electrically (electroacupuncture), which some researchers believe activates endorphin systems. Other experiments with acupuncture have shown that there are higher levels of endorphins in cerebrospinal fluid following acupuncture. Investigators are studying the effect of stress on the experience of chronic pain. Chemists are synthesizing new analgesics and discovering painkilling virtues in drugs not normally prescribed for pain.",NINDS,Chronic Pain +What is (are) Thyrotoxic Myopathy ?,"Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. Thyroid myopathy may be associated with rhabdomyolysis (acute muscle breakdown), damage to the muscles that control eye movement, and temporary, but severe, attacks of muscle weakness that are associated with low blood potassium levels (known as periodic paralysis).",NINDS,Thyrotoxic Myopathy +What are the treatments for Thyrotoxic Myopathy ?,"Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.",NINDS,Thyrotoxic Myopathy +What is the outlook for Thyrotoxic Myopathy ?,"With treatment, muscle weakness may improve or be reversed.",NINDS,Thyrotoxic Myopathy +what research (or clinical trials) is being done for Thyrotoxic Myopathy ?,The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.,NINDS,Thyrotoxic Myopathy +What is (are) Kleine-Levin Syndrome ?,"Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as ""episodes,"" typically lasting a few days to a few weeks. Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes. Mood can be depressed as a consequence, but not a cause, of the disorder. Affected individuals are completely normal between episodes, although they may not be able to remember afterwards everything that happened during the episode. It may be weeks or more before symptoms reappear. Symptoms may be related to malfunction of the hypothalamus and thalamus, parts of the brain that govern appetite and sleep.",NINDS,Kleine-Levin Syndrome +What are the treatments for Kleine-Levin Syndrome ?,"There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. Because of similarities between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some cases, have been shown to prevent further episodes. This disorder should be differentiated from cyclic re-occurrence of sleepiness during the premenstrual period in teen-aged girls, which may be controlled with birth control pills. It also should be differentiated from encephalopathy, recurrent depression, or psychosis.",NINDS,Kleine-Levin Syndrome +What is the outlook for Kleine-Levin Syndrome ?,Episodes eventually decrease in frequency and intensity over the course of eight to 12 years.,NINDS,Kleine-Levin Syndrome +what research (or clinical trials) is being done for Kleine-Levin Syndrome ?,NINDS supports a broad range of clinical and basic research on diseases causing sleep disorders in an effort to clarify the mechanisms of these conditions and to develop better treatments for them.,NINDS,Kleine-Levin Syndrome +What is (are) Hypersomnia ?,"Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep at night, persons with hypersomnia are compelled to nap repeatedly during the day, often at inappropriate times such as at work, during a meal, or in conversation. These daytime naps usually provide no relief from symptoms. Patients often have difficulty waking from a long sleep, and may feel disoriented. Other symptoms may include anxiety, increased irritation, decreased energy, restlessness, slow thinking, slow speech, loss of appetite, hallucinations, and memory difficulty. Some patients lose the ability to function in family, social, occupational, or other settings. Hypersomnia may be caused by another sleep disorder (such as narcolepsy or sleep apnea), dysfunction of the autonomic nervous system, or drug or alcohol abuse. In some cases it results from a physical problem, such as a tumor, head trauma, or injury to the central nervous system. Certain medications, or medicine withdrawal, may also cause hypersomnia. Medical conditions including multiple sclerosis, depression, encephalitis, epilepsy, or obesity may contribute to the disorder. Some people appear to have a genetic predisposition to hypersomnia; in others, there is no known cause. Typically, hypersomnia is first recognized in adolescence or young adulthood.",NINDS,Hypersomnia +What are the treatments for Hypersomnia ?,"Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine.",NINDS,Hypersomnia +What is the outlook for Hypersomnia ?,"The prognosis for persons with hypersomnia depends on the cause of the disorder. While the disorder itself is not life threatening, it can have serious consequences, such as automobile accidents caused by falling asleep while driving. The attacks usually continue indefinitely.",NINDS,Hypersomnia +what research (or clinical trials) is being done for Hypersomnia ?,"The NINDS supports and conducts research on sleep disorders such as hypersomnia. The goal of this research is to increase scientific understanding of the condition, find improved methods of diagnosing and treating it, and discover ways to prevent it.",NINDS,Hypersomnia +What is (are) Corticobasal Degeneration ?,"Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement), disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.",NINDS,Corticobasal Degeneration +What are the treatments for Corticobasal Degeneration ?,"There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and speech therapy can help in managing disability.",NINDS,Corticobasal Degeneration +What is the outlook for Corticobasal Degeneration ?,Corticobasal degeneration usually progresses slowly over the course of 6 to 8 years. Death is generally caused by pneumonia or other complications of severe debility such as sepsis or pulmonary embolism.,NINDS,Corticobasal Degeneration +what research (or clinical trials) is being done for Corticobasal Degeneration ?,"The NINDS supports and conducts research studies on degenerative disorders such as corticobasal degeneration. The goals of these studies are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.",NINDS,Corticobasal Degeneration +What is (are) Dysautonomia ?,"Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.",NINDS,Dysautonomia +What are the treatments for Dysautonomia ?,"There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine.",NINDS,Dysautonomia +What is the outlook for Dysautonomia ?,"The outlook for individuals with dysautonomia depends on the particular diagnostic category. People with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest.",NINDS,Dysautonomia +what research (or clinical trials) is being done for Dysautonomia ?,"The NINDS supports and conducts research on dysautonomia. This research aims to discover ways to diagnose, treat, and, ultimately, prevent these disorders.",NINDS,Dysautonomia +What is (are) Dyssynergia Cerebellaris Myoclonica ?,"Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system. Arms are usually more affected than legs. Some of the cases are due to mitochondrial abnormalities.",NINDS,Dyssynergia Cerebellaris Myoclonica +What are the treatments for Dyssynergia Cerebellaris Myoclonica ?,Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate.,NINDS,Dyssynergia Cerebellaris Myoclonica +What is the outlook for Dyssynergia Cerebellaris Myoclonica ?,The progression of the disorder is usually 10 years or longer.,NINDS,Dyssynergia Cerebellaris Myoclonica +what research (or clinical trials) is being done for Dyssynergia Cerebellaris Myoclonica ?,"The NINDS supports a broad range of research on neurodegenerative disorders such as Dyssynergia Cerebellaris Myoclonica. The goals of this research are to find ways to prevent, treat, and cure these kinds of disorders.",NINDS,Dyssynergia Cerebellaris Myoclonica +What is (are) Transmissible Spongiform Encephalopathies ?,"Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a ""spongy"" appearance. These holes can be seen when brain tissue is viewed under a microscope. + +Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as ""mad cow disease."" Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. + +Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short for proteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. + +Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. + +Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.",NINDS,Transmissible Spongiform Encephalopathies +What are the treatments for Transmissible Spongiform Encephalopathies ?,TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years.,NINDS,Transmissible Spongiform Encephalopathies +What is the outlook for Transmissible Spongiform Encephalopathies ?,There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.,NINDS,Transmissible Spongiform Encephalopathies +what research (or clinical trials) is being done for Transmissible Spongiform Encephalopathies ?,"The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.",NINDS,Transmissible Spongiform Encephalopathies +What is (are) Orthostatic Hypotension ?,"Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It is due to a lesion of the baroreflex loop, which senses a change in blood pressure and adjusts heart rate and activates sympathetic nerve system fibers to cause the blood vessels to narrow and correct blood pressure. It may also be caused by hypovolemia (a decreased amount of blood in the body), resulting from the excessive use of diuretics, vasodilators, or other types of drugs, dehydration, or prolonged bed rest. The disorder may be associated with Addison's disease, diabetes, and certain neurological disorders including Multiple System Atrophy with Orthostatic Hypotension (formerly known as Shy-Drager syndrome), autonomic system neuropathies, and other dysautonomias. Symptoms, which generally occur after sudden standing, include dizziness, lightheadedness, blurred vision, and syncope (temporary loss of consciousness).",NINDS,Orthostatic Hypotension +What are the treatments for Orthostatic Hypotension ?,"When orthostatic hypotension is caused by hypovolemia due to medications, the disorder may be reversed by adjusting the dosage or by discontinuing the medication. When the condition is caused by prolonged bed rest, improvement may occur by sitting up with increasing frequency each day. In some cases, physical counterpressure such as elastic hose or whole-body inflatable suits may be required. Dehydration is treated with salt and fluids. More severe cases can be treated with drugs, such as midodrine, to raise blood pressure.",NINDS,Orthostatic Hypotension +What is the outlook for Orthostatic Hypotension ?,The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.,NINDS,Orthostatic Hypotension +what research (or clinical trials) is being done for Orthostatic Hypotension ?,The NINDS supports research on conditions such as neurogenic orthostatic hypotension aimed at increasing scientific understanding of the condition and finding ways to treat and prevent it.,NINDS,Orthostatic Hypotension +What is (are) Sotos Syndrome ?,"Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild cognitive impairment; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.",NINDS,Sotos Syndrome +What are the treatments for Sotos Syndrome ?,There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.,NINDS,Sotos Syndrome +What is the outlook for Sotos Syndrome ?,"Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood.",NINDS,Sotos Syndrome +what research (or clinical trials) is being done for Sotos Syndrome ?,"The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.",NINDS,Sotos Syndrome +What is (are) Spinal Cord Infarction ?,"Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.",NINDS,Spinal Cord Infarction +What are the treatments for Spinal Cord Infarction ?,Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence.,NINDS,Spinal Cord Infarction +What is the outlook for Spinal Cord Infarction ?,Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery.,NINDS,Spinal Cord Infarction +what research (or clinical trials) is being done for Spinal Cord Infarction ?,"NINDS conducts and supports research on disorders of the spinal cord such as spinal cord infarction, aimed at learning more about these disorders and finding ways to prevent and treat them.",NINDS,Spinal Cord Infarction +What is (are) Acid Lipase Disease ?,"Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the bodys cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase: + +Wolmans disease (also known as acid lipase deficiency) is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone,enlarged liver and grossly enlarged spleen, gastrointestinal problems including an excessive amount of fats in the stools, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden. Both male and female infants are affected by the disorder. + +Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.",NINDS,Acid Lipase Disease +What are the treatments for Acid Lipase Disease ?,"Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.",NINDS,Acid Lipase Disease +What is the outlook for Acid Lipase Disease ?,"Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.",NINDS,Acid Lipase Disease +what research (or clinical trials) is being done for Acid Lipase Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for thee lipid storage diseases that will speed the development of novel therapeutics for these disorders. Other investigators hope to establish an international disease registry designed to collect longitudinal data that would be used to improve the care and treatment of individuals with lysosomal acid lipase deficiency. + +The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed. To search, go to: http://www.ncbi.nlm.nih.gov/PubMed . The NLM also offers extensive health information from NIH and other trusted sources. To research your condition, go to: http://www.medlineplus.gov .",NINDS,Acid Lipase Disease +What is (are) Erb-Duchenne and Dejerine-Klumpke Palsies ?,"The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne (Erb's) palsy refers to paralysis of the upper brachial plexus. Dejerine-Klumpke (Klumpke's) palsy refers to paralysis of the lower brachial plexus. Although injuries can occur at any time, many brachial plexus injuries happen when a baby's shoulders become impacted during delivery and the brachial plexus nerves stretch or tear. There are four types of brachial plexus injuries: avulsion, the most severe type, in which the nerve is torn from the spine; rupture, in which the nerve is torn but not at the spinal attachment; neuroma, in which the nerve has torn and healed but scar tissue puts pressure on the injured nerve and prevents it from conducting signals to the muscles; and neuropraxia or stretch, in which the nerve has been damaged but not torn. Neuropraxia is the most common type of brachial plexus injury. Symptoms of brachial plexus injury may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and lack of feeling or sensation in the arm or hand.",NINDS,Erb-Duchenne and Dejerine-Klumpke Palsies +What are the treatments for Erb-Duchenne and Dejerine-Klumpke Palsies ?,"Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.",NINDS,Erb-Duchenne and Dejerine-Klumpke Palsies +What is the outlook for Erb-Duchenne and Dejerine-Klumpke Palsies ?,"The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100 percent return of function.",NINDS,Erb-Duchenne and Dejerine-Klumpke Palsies +what research (or clinical trials) is being done for Erb-Duchenne and Dejerine-Klumpke Palsies ?,The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.,NINDS,Erb-Duchenne and Dejerine-Klumpke Palsies +What is (are) Cerebral Palsy ?,"The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.The early signs of cerebral palsy usually appear before a child reaches 3 years of age.The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a scissored gait; and muscle tone that is either too stiff or too floppy.Other neurological symptoms that commonly occur in individuals with CP include seizures, hearing loss and impaired vision, bladder and bowel control issues, and pain and abnormal sensations. A small number of children have CP as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. The disorder isn't progressive, meaning that the brain damage typically doesn't get worse over time. Risk factors associated with CP do not cause the disorder but can increase a child's chance of being born with the disorder.CP is not hereditary.",NINDS,Cerebral Palsy +What are the treatments for Cerebral Palsy ?,"Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.",NINDS,Cerebral Palsy +What is the outlook for Cerebral Palsy ?,"Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world..While one child with CP might not require special assistance, a child with severe CP might be unable to walk and need extensive, lifelong care.",NINDS,Cerebral Palsy +what research (or clinical trials) is being done for Cerebral Palsy ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.",NINDS,Cerebral Palsy +What is (are) Canavan Disease ?,"Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. In Canavan disease, many oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function. Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate. + +Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.",NINDS,Canavan Disease +What are the treatments for Canavan Disease ?,"Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.",NINDS,Canavan Disease +What is the outlook for Canavan Disease ?,"The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.",NINDS,Canavan Disease +what research (or clinical trials) is being done for Canavan Disease ?,The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies.,NINDS,Canavan Disease +What is (are) Craniosynostosis ?,"Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.",NINDS,Craniosynostosis +What are the treatments for Craniosynostosis ?,"Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head.",NINDS,Craniosynostosis +What is the outlook for Craniosynostosis ?,The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.,NINDS,Craniosynostosis +what research (or clinical trials) is being done for Craniosynostosis ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can change and offers hope for new ways to treat and prevent birth defects that can prevent normal brain development, such as craniosynostosis.",NINDS,Craniosynostosis +What is (are) Wallenberg's Syndrome ?,"Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenbergs syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.",NINDS,Wallenberg's Syndrome +What are the treatments for Wallenberg's Syndrome ?,"Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.",NINDS,Wallenberg's Syndrome +What is the outlook for Wallenberg's Syndrome ?,The outlook for someone with Wallenbergs syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared.,NINDS,Wallenberg's Syndrome +what research (or clinical trials) is being done for Wallenberg's Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Wallenbergs syndrome in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Wallenbergs syndrome.",NINDS,Wallenberg's Syndrome +What is (are) Spina Bifida ?,"Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).",NINDS,Spina Bifida +What are the treatments for Spina Bifida ?,"There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. Ongoing therapy, medical care, and/or surgical treatments may be necessary to prevent and manage complications throughout the individual's life. Surgery to close the newborn's spinal opening is generally performed within 24 hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.",NINDS,Spina Bifida +What is the outlook for Spina Bifida ?,"The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood.",NINDS,Spina Bifida +what research (or clinical trials) is being done for Spina Bifida ?,"The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 400 micrograms of folic acid daily.",NINDS,Spina Bifida +What is (are) Acute Disseminated Encephalomyelitis ?,"Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but widespread attack of inflammation in the brain and spinal cord that damages myelin the protective covering of nerve fibers. ADEM often follows viral or bacterial infections, or less often, vaccination for measles, mumps, or rubella. The symptoms of ADEM appear rapidly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in the most severe cases, seizures and coma. ADEM typically damages white matter (brain tissue that takes its name from the white color of myelin), leading to neurological symptoms such as visual loss (due to inflammation of the optic nerve)in one or both eyes, weakness even to the point of paralysis, and difficulty coordinating voluntary muscle movements (such as those used in walking). ADEM is sometimes misdiagnosed as a severe first attack of multiple sclerosis (MS), since the symptoms and the appearance of the white matter injury on brain imaging may be similar. However, ADEM has several features which differentiate it from MS. First, unlike MS patients, persons with ADEM will have rapid onset of fever, a history of recent infection or immunization, and some degree of impairment of consciousness, perhaps even coma; these features are not typically seen in MS. Children are more likely than adults to have ADEM, whereas MS is a rare diagnosis in children. In addition, ADEM usually consists of a single episode or attack of widespread myelin damage, while MS features many attacks over the course of time. Doctors will often use imaging techniques, such as MRI (magnetic resonance imaging), to search for old and new lesions (areas of damage) on the brain. The presence of older brain lesions on MRI suggest that the condition may be MS rather than ADEM, since MS can cause brain lesions before symptoms become obvious. In rare situations, a brain biopsy may be necessary to differentiate between ADEM and some other diseases that involve inflammation and damage to myelin..",NINDS,Acute Disseminated Encephalomyelitis +What are the treatments for Acute Disseminated Encephalomyelitis ?,"Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. Additional treatment is symptomatic and supportive.",NINDS,Acute Disseminated Encephalomyelitis +What is the outlook for Acute Disseminated Encephalomyelitis ?,"Corticosteroid therapy typically helps hasten recovery from most ADEM symptoms. The long-term prognosis for individuals with ADEM is generally favorable. For most individuals, recovery begins within days, and within six months the majority of ADEM patients will have total or near total recoveries. Others may have mild to moderate lifelong impairment ranging from cognitive difficulties, weakness, loss of vision, or numbness. Severe cases of ADEM can be fatal but this is a very rare occurrence. ADEM can recur, usually within months of the initial diagnosis, and is treated by restarting corticosteroids. A small fraction of individuals who are initially diagnosed as having ADEM can go on to develop MS, but there is currently no method or known risk factors to predict whom those individuals will be.",NINDS,Acute Disseminated Encephalomyelitis +what research (or clinical trials) is being done for Acute Disseminated Encephalomyelitis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure demyelinating disorders such as ADEM.",NINDS,Acute Disseminated Encephalomyelitis +What is (are) Multiple System Atrophy with Orthostatic Hypotension ?,"Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the central and autonomic nervous systems, it is characterized by orthostatic hypotension (an excessive drop in blood pressure when standing up) which causes dizziness or fainting. Multiple system atrophy can occur without orthostatic hypotension, but instead have urinary involvement (urgency/incontinence). Doctors classify the disorder into 3 types: the Parkinsonian-type includes symptoms of Parkinson's disease such as slow movement, stiff muscles, and tremor; the cerebellar-type, which causes problems with coordination and speech; and the combined-type, which includes symptoms of both parkinsonism and cerebellar failure. Problems with urinary incontinence, constipation, and sexual impotence in men happen early in the course of the disease. Other symptoms include generalized weakness, double vision or other vision disturbances, difficulty breathing and swallowing, sleep disturbances, and decreased sweating. Because the disease resembles others, a correct diagnosis may take years.",NINDS,Multiple System Atrophy with Orthostatic Hypotension +What are the treatments for Multiple System Atrophy with Orthostatic Hypotension ?,"There is no cure for multiple system atrophy with orthostatic hypotension. Treatment is aimed at controlling symptoms. Anti-Parkinson medication such as Sinemet may improve the general sense of well-being. Medications to elevate blood pressure while standing are often used, but may cause high blood pressure when lying down. Individuals should sleep with the head of the bed elevated. An artificial feeding tube or breathing tube may be required for problems with swallowing and breathing.",NINDS,Multiple System Atrophy with Orthostatic Hypotension +What is the outlook for Multiple System Atrophy with Orthostatic Hypotension ?,Most individuals with multiple system atrophy with orthostatic hypotension die within 7 to 10 years after the onset of symptoms. A problem with the respiratory system is the most common cause of death.,NINDS,Multiple System Atrophy with Orthostatic Hypotension +what research (or clinical trials) is being done for Multiple System Atrophy with Orthostatic Hypotension ?,"The NINDS supports research on disorders of the autonomic nervous system, including multiple system atrophy with orthostatic hypotension. This research is aimed at developing techniques to diagnose, treat, and prevent these disorders. Currently there are ongoing treatment trials of drugs to treat MSA.",NINDS,Multiple System Atrophy with Orthostatic Hypotension +What is (are) Spasticity ?,"Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.",NINDS,Spasticity +What are the treatments for Spasticity ?,"Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. Targeted injection of botulinum toxin into muscles with the most tome can help to selectively weaken these muscles to improve range of motion and function. Surgery may be recommended for tendon release or to sever the nerve-muscle pathway.",NINDS,Spasticity +What is the outlook for Spasticity ?,The prognosis for those with spasticity depends on the severity of the spasticity and the associated disorder(s).,NINDS,Spasticity +what research (or clinical trials) is being done for Spasticity ?,"The NINDS supports research on brain and spinal cord disorders that can cause spasticity. The goals of this research are to increase scientific understanding about these disorders and to find ways to prevent, treat, and cure them.",NINDS,Spasticity +What is (are) Paroxysmal Choreoathetosis ?,"Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.",NINDS,Paroxysmal Choreoathetosis +What are the treatments for Paroxysmal Choreoathetosis ?,"Drug therapy, particularly carbamazepine, has been very successful in reducing or eliminating attacks of paroxysmal choreoathetosis. While carbamazepine is not effective in every case, other drugs have been substituted with good effect.",NINDS,Paroxysmal Choreoathetosis +What is the outlook for Paroxysmal Choreoathetosis ?,"Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good.",NINDS,Paroxysmal Choreoathetosis +what research (or clinical trials) is being done for Paroxysmal Choreoathetosis ?,NINDS supports and conducts research on movement disorders such as paroxysmal choreoathetosis. Much of this research is aimed at finding ways to prevent and treat these disorders.,NINDS,Paroxysmal Choreoathetosis +What is (are) Refsum Disease ?,"Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include deafness, loss of the sense of smell (anosmia), problems with balance and coordination (ataxia), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias). Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe. Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.",NINDS,Refsum Disease +What are the treatments for Refsum Disease ?,"The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.",NINDS,Refsum Disease +What is the outlook for Refsum Disease ?,"ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by heartbeat abnormalities.",NINDS,Refsum Disease +what research (or clinical trials) is being done for Refsum Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders.",NINDS,Refsum Disease +What is (are) Charcot-Marie-Tooth Disease ?,"Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an ""inverted champagne bottle"" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some individuals experience pain, which can range from mild to severe.",NINDS,Charcot-Marie-Tooth Disease +What are the treatments for Charcot-Marie-Tooth Disease ?,"There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain.",NINDS,Charcot-Marie-Tooth Disease +What is the outlook for Charcot-Marie-Tooth Disease ?,"Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. There are many forms of CMT disease. The severity of symptoms may vary greatly among individuals and some people may never realize they have the disorder. CMT is not fatal and people with most forms of CMT have a normal life expectancy.",NINDS,Charcot-Marie-Tooth Disease +what research (or clinical trials) is being done for Charcot-Marie-Tooth Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country. Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. This research includes studies in the laboratory to discover the mechanisms of nerve degeneration and muscle atrophy, and clinical studies to find therapies to slow down or even reverse nerve degeneration and muscle atrophy.",NINDS,Charcot-Marie-Tooth Disease +What is (are) Foot Drop ?,"Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot. As a result, individuals with foot drop scuff their toes along the ground or bend their knees to lift their foot higher than usual to avoid the scuffing, which causes what is called a steppage gait. Foot drop can be unilateral (affecting one foot) or bilateral (affecting both feet). Foot drop is a symptom of an underlying problem and is either temporary or permanent, depending on the cause. Causes include: neurodegenerative disorders of the brain that cause muscular problems, such as multiple sclerosis, stroke, and cerebral palsy; motor neuron disorders such as polio, some forms of spinal muscular atrophy and amyotrophic lateral sclerosis (commonly known as Lou Gehrigs disease); injury to the nerve roots, such as in spinal stenosis; peripheral nerve disorders such as Charcot-Marie-Tooth disease or acquired peripheral neuropathy; local compression or damage to the peroneal nerve as it passes across the fibular bone below the knee; and muscle disorders, such as muscular dystrophy or myositis.",NINDS,Foot Drop +What are the treatments for Foot Drop ?,"Treatment depends on the specific cause of foot drop. The most common treatment is to support the foot with light-weight leg braces and shoe inserts, called ankle-foot orthotics. Exercise therapy to strengthen the muscles and maintain joint motion also helps to improve gait. Devices that electrically stimulate the peroneal nerve during footfall are appropriate for a small number of individuals with foot drop. In cases with permanent loss of movement, surgery that fuses the foot and ankle joint or that transfers tendons from stronger leg muscles is occasionally performed.",NINDS,Foot Drop +What is the outlook for Foot Drop ?,"The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy.",NINDS,Foot Drop +what research (or clinical trials) is being done for Foot Drop ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the kinds of neurological disorders that cause foot drop.",NINDS,Foot Drop +What is (are) Cushing's Syndrome ?,"Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders.",NINDS,Cushing's Syndrome +What are the treatments for Cushing's Syndrome ?,"Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy, chemotherapy, immunotherapy, or a combination of these may be used to treat ectopic ACTH syndrome. The aim of surgical treatment is to cure hypercortisolism by removing the tumor while minimizing the chance of endocrine deficiency or long-term dependence on medications. The U.S. Food and Drug Administration has approved pasireotide diasparate, taken by injection, for individuals who cannot be helped through surgery.",NINDS,Cushing's Syndrome +What is the outlook for Cushing's Syndrome ?,"The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some kinds of tumors may recur.",NINDS,Cushing's Syndrome +what research (or clinical trials) is being done for Cushing's Syndrome ?,"NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder.",NINDS,Cushing's Syndrome +What is (are) Alpers' Disease ?,"Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms. Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis. About 80 percent of individuals with Alpers' disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25. The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or group of muscles), seizures, or liver failure. An increased protein level is seen in cerebrospinal fluid analysis. Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy may occur. Dementia is typically episodic and often associated with an infection that occurs while another disease is in process. Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well. ""Alpers-like"" disorders without liver disease are genetically different and have a different clinical course. Fewer than one-third of individuals with the ""Alpers-like"" phenotype without liver disease have POLG mutations.",NINDS,Alpers' Disease +What are the treatments for Alpers' Disease ?,"There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant.. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.",NINDS,Alpers' Disease +What is the outlook for Alpers' Disease ?,"The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.",NINDS,Alpers' Disease +what research (or clinical trials) is being done for Alpers' Disease ?,"The NINDS supports research on gene-linked neurodegenerative disorders such as Alpers' disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.",NINDS,Alpers' Disease +What is (are) Binswanger's Disease ?,"Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. Atherosclerosis (commonly known as ""hardening of the arteries"") is a systemic process that affects blood vessels throughout the body. It begins late in the fourth decade of life and increases in severity with age. As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. A characteristic pattern of BD-damaged brain tissue can be seen with modern brain imaging techniques such as CT scans or magnetic resonance imaging (MRI). The symptoms associated with BD are related to the disruption of subcortical neural circuits that control what neuroscientists call executive cognitive functioning: short-term memory, organization, mood, the regulation of attention, the ability to act or make decisions, and appropriate behavior. The most characteristic feature of BD is psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer's disease), changes in speech, an unsteady gait, clumsiness or frequent falls, changes in personality or mood (most likely in the form of apathy, irritability, and depression), and urinary symptoms that aren't caused by urological disease. Brain imaging, which reveals the characteristic brain lesions of BD, is essential for a positive diagnosis.",NINDS,Binswanger's Disease +What are the treatments for Binswanger's Disease ?,"There is no specific course of treatment for BD. Treatment is symptomatic. People with depression or anxiety may require antidepressant medications such as the serotonin-specific reuptake inhibitors (SSRI) sertraline or citalopram. Atypical antipsychotic drugs, such as risperidone and olanzapine, can be useful in individuals with agitation and disruptive behavior. Recent drug trials with the drug memantine have shown improved cognition and stabilization of global functioning and behavior. The successful management of hypertension and diabetes can slow the progression of atherosclerosis, and subsequently slow the progress of BD. Because there is no cure, the best treatment is preventive, early in the adult years, by controlling risk factors such as hypertension, diabetes, and smoking.",NINDS,Binswanger's Disease +What is the outlook for Binswanger's Disease ?,"BD is a progressive disease; there is no cure. Changes may be sudden or gradual and then progress in a stepwise manner. BD can often coexist with Alzheimer's disease. Behaviors that slow the progression of high blood pressure, diabetes, and atherosclerosis -- such as eating a healthy diet and keeping healthy wake/sleep schedules, exercising, and not smoking or drinking too much alcohol -- can also slow the progression of BD.",NINDS,Binswanger's Disease +what research (or clinical trials) is being done for Binswanger's Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to BD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders, such as BD.",NINDS,Binswanger's Disease +What is (are) Swallowing Disorders ?,"Having trouble swallowing (dysphagia) is a symptom that accompanies a number of neurological disorders. The problem can occur at any stage of the normal swallowing process as food and liquid move from the mouth, down the back of the throat, through the esophagus and into the stomach. Difficulties can range from a total inability to swallow, to coughing or choking because the food or liquid is entering the windpipe, which is referred to as aspiration. When aspiration is frequent a person can be at risk of developing pneumonia. Food may get ""stuck"" in the throat or individuals may drool because they cannot swallow their saliva. Neurological conditions that can cause swallowing difficulties are: stroke (the most common cause of dysphagia); traumatic brain injury; cerebral palsy; Parkinson disease and other degenerative neurological disorders such as amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), multiple sclerosis, progressive supranuclear palsy, Huntington disease, and myasthenia gravis. Muscular dystrophy and myotonic dystrophy are accompanied by dysphagia, which is also the cardinal symptom of oculopharyngeal muscular dystrophy, a rare, progressive genetic disorder.",NINDS,Swallowing Disorders +What are the treatments for Swallowing Disorders ?,"Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. More severely disabled individuals may require surgery or the insertion of feeding tubes.",NINDS,Swallowing Disorders +What is the outlook for Swallowing Disorders ?,"The prognosis depends upon the type of swallowing problem and the course of the neurological disorder that produces it. In some cases, dysphagia can be partially or completely corrected using diet manipulation or non-invasive methods. In others, especially when the dysphagia is causing aspiration and preventing adequate nutrition and causing weight loss, it may require aggressive intervention such as a feeding tube. For those with progressive degenerative neurological disorders, dysphagia will be only one in a cluster of symptoms and disabilities that have to be treated.",NINDS,Swallowing Disorders +what research (or clinical trials) is being done for Swallowing Disorders ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to dysphagia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat dysphagia.,NINDS,Swallowing Disorders +What is (are) Pseudotumor Cerebri ?,"Pseudotumor cerebri literally means ""false brain tumor."" It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating sounds within the head, closely mimic symptoms of large brain tumors.",NINDS,Pseudotumor Cerebri +What are the treatments for Pseudotumor Cerebri ?,"Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. Drugs may be used to reduce fluid buildup and to relieve pressure. Weight loss through dieting or weight loss surgery and cessation of certain drugs (including oral contraceptives, tetracycline, and a variety of steroids) may lead to improvement. Surgery may be needed to remove pressure on the optic nerve. Therapeutic shunting, which involves surgically inserting a tube to drain CSF from the lower spine into the abdominal cavity, may be needed to remove excess CSF and relieve CSF pressure.",NINDS,Pseudotumor Cerebri +What is the outlook for Pseudotumor Cerebri ?,"The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.",NINDS,Pseudotumor Cerebri +what research (or clinical trials) is being done for Pseudotumor Cerebri ?,"The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them.",NINDS,Pseudotumor Cerebri +What is (are) Occipital Neuralgia ?,"Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. Some individuals will also experience pain in the scalp, forehead, and behind the eyes. Their scalp may also be tender to the touch, and their eyes especially sensitive to light. The location of pain is related to the areas supplied by the greater and lesser occipital nerves, which run from the area where the spinal column meets the neck, up to the scalp at the back of the head. The pain is caused by irritation or injury to the nerves, which can be the result of trauma to the back of the head, pinching of the nerves by overly tight neck muscles, compression of the nerve as it leaves the spine due to osteoarthritis, or tumors or other types of lesions in the neck. Localized inflammation or infection, gout, diabetes, blood vessel inflammation (vasculitis), and frequent lengthy periods of keeping the head in a downward and forward position are also associated with occipital neuralgia. In many cases, however, no cause can be found. A positive response (relief from pain) after an anesthetic nerve block will confirm the diagnosis.",NINDS,Occipital Neuralgia +What are the treatments for Occipital Neuralgia ?,"Treatment is generally symptomatic and includes massage and rest. In some cases, antidepressants may be used when the pain is particularly severe. Other treatments may include local nerve blocks and injections of steroids directly into the affected area.",NINDS,Occipital Neuralgia +What is the outlook for Occipital Neuralgia ?,"Occipital neuralgia is not a life-threatening condition. Many individuals will improve with therapy involving heat, rest, anti-inflammatory medications, and muscle relaxants. Recovery is usually complete after the bout of pain has ended and the nerve damage repaired or lessened.",NINDS,Occipital Neuralgia +what research (or clinical trials) is being done for Occipital Neuralgia ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to pain and occipital neuralgia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on understanding the basic mechanisms of pain and testing treatments in order to find better ways to treat occipital neuralgia.,NINDS,Occipital Neuralgia +What is (are) Neurofibromatosis ?,"The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): + +- NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin (""cafe-au-lait"" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. - NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. - The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.",NINDS,Neurofibromatosis +What are the treatments for Neurofibromatosis ?,"Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage to the facial nerve and some degree of facial paralysis. Focused radiation of vestibular schwannoma carries of a lower risk of facial paralysis than open surgery, but is more effective o shrinking small to moderate tumors than larger tumors. Chemotherapy with a drug that targets the blood vessels of vestibular schwannoma can reduce the size of the tumor and improves hearing, but some tumors do not respond at all and sometimes respond only temporarily. Bone malformations can often be corrected surgically, and surgery can also correct cataracts and retinal abnormalities. Pain usually subsides when tumors are removed completely.",NINDS,Neurofibromatosis +What is the outlook for Neurofibromatosis ?,"In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. Loss of hearing in both ears develops in most individuals with NF2. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.",NINDS,Neurofibromatosis +what research (or clinical trials) is being done for Neurofibromatosis ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. Understanding the natural history of tumors in NF and determining possible factors that may regulate their growth patterns is another aim of NIH researchers Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow Researchers also hope to develop new and more effective treatments for neurofibromatosis. Several agents have been tested or are under investigation for NF2, including the monoclonal antibody, bevacizumab, which improves hearing in some individuals with NF2.Because schwannomas are particularly hard to treat tumors, NINDS researchers are developing a new treatment option, which uses a virus to kill tumor cells. Additional NINDS-funded researchers are testing novel radiation and chemotherapy regimens for NF1-related malignant tumors of the peripheral nerves.",NINDS,Neurofibromatosis +What is (are) Febrile Seizures ?,"Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile seizures last a minute or two; some can be as brief as a few seconds, while others may last for more than 15 minutes. Approximately one in every 25 children will have at least one febrile seizure. Febrile seizures usually occur in children between the ages of 6 months and 5 years, with the risk peaking in the second year of life. The older a child is when the first febrile seizure occurs, the less likely that child is to have more. A few factors appear to boost a child's risk of having recurrent febrile seizures, including young age (less than 18 months) during the first seizures and having immediate family members with a history of febrile seizures.",NINDS,Febrile Seizures +What are the treatments for Febrile Seizures ?,"A child who has a febrile seizure usually doesn't need to be hospitalized. If the seizure is prolonged or is accompanied by a serious infection, or if the source of the infection cannot be determined, a doctor may recommend that the child be hospitalized for observation. Prolonged daily use of anti-seizure medicines is usually not recommended because of their potential for harmful side effects. Children especially prone to febrile seizures may be treated with medication when they have a fever to lower the risk of having another febrile seizure.",NINDS,Febrile Seizures +What is the outlook for Febrile Seizures ?,"The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. Multiple or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do not go on to develop the reoccurring seizures that re characteristic of epilepsy. Certain children who have febrile seizures face an increased risk of developing epilepsy. These children include those who have a febrile seizure that lasts longer than 10 minutes, who have febrile seizures that are lengthy or affect only one part of the body, or experience seizures that reoccur within 24 hours..",NINDS,Febrile Seizures +what research (or clinical trials) is being done for Febrile Seizures ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might make children susceptible to febrile seizures. Investigators continue to monitor the long-term impact that febrile seizures might have on intelligence, behavior, school achievement, and the development of epilepsy. Investigators also continue to explore which drugs can effectively treat or prevent febrile seizures, and to identify factors that may cause a child who has prolonged febrile seizures to develop temporal lobe epilepsy.",NINDS,Febrile Seizures +What is (are) Chorea ?,"Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.",NINDS,Chorea +What are the treatments for Chorea ?,"There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. Adjusting medication dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are treated according to the cause(s) of symptoms.",NINDS,Chorea +What is the outlook for Chorea ?,"The prognosis for individuals with chorea varies depending on the type of chorea and the associated disease. Huntington's disease is a progressive, and ultimately, fatal disease. Syndenham's chorea is treatable and curable.",NINDS,Chorea +what research (or clinical trials) is being done for Chorea ?,The NINDS supports research on movement disorders such as chorea. The goals of this research are to increase understanding of these disorders and to find ways to prevent and treat them.,NINDS,Chorea +What is (are) Menkes Disease ?,"Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.",NINDS,Menkes Disease +What are the treatments for Menkes Disease ?,Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.,NINDS,Menkes Disease +What is the outlook for Menkes Disease ?,"Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.",NINDS,Menkes Disease +what research (or clinical trials) is being done for Menkes Disease ?,"Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3 + + + +1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19.. + +2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14. + +3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).",NINDS,Menkes Disease +What is (are) Williams Syndrome ?,"Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.",NINDS,Williams Syndrome +What are the treatments for Williams Syndrome ?,"There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure",NINDS,Williams Syndrome +What is the outlook for Williams Syndrome ?,"The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.",NINDS,Williams Syndrome +what research (or clinical trials) is being done for Williams Syndrome ?,"The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.",NINDS,Williams Syndrome +What is (are) Batten Disease ?,"Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.",NINDS,Batten Disease +What are the treatments for Batten Disease ?,"As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.",NINDS,Batten Disease +What is the outlook for Batten Disease ?,"Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.",NINDS,Batten Disease +what research (or clinical trials) is being done for Batten Disease ?,"The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.",NINDS,Batten Disease +What is (are) Attention Deficit-Hyperactivity Disorder ?,"Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.",NINDS,Attention Deficit-Hyperactivity Disorder +What are the treatments for Attention Deficit-Hyperactivity Disorder ?,"The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and limit-setting), and tutoring and/or behavioral therapy for the child.",NINDS,Attention Deficit-Hyperactivity Disorder +What is the outlook for Attention Deficit-Hyperactivity Disorder ?,"There is no ""cure"" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.",NINDS,Attention Deficit-Hyperactivity Disorder +what research (or clinical trials) is being done for Attention Deficit-Hyperactivity Disorder ?,"Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to improve diagnosis and treatment.",NINDS,Attention Deficit-Hyperactivity Disorder +What is (are) Traumatic Brain Injury ?,"Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. A person with a mild TBI may remain conscious or may experience a loss of consciousness for a few seconds or minutes. Other symptoms of mild TBI include headache, confusion, lightheadedness, dizziness, blurred vision or tired eyes, ringing in the ears, bad taste in the mouth, fatigue or lethargy, a change in sleep patterns, behavioral or mood changes, and trouble with memory, concentration, attention, or thinking. A person with a moderate or severe TBI may show these same symptoms, but may also have a headache that gets worse or does not go away, repeated vomiting or nausea, convulsions or seizures, an inability to awaken from sleep, dilation of one or both pupils of the eyes, slurred speech, weakness or numbness in the extremities, loss of coordination, and increased confusion, restlessness, or agitation.",NINDS,Traumatic Brain Injury +What are the treatments for Traumatic Brain Injury ?,"Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient. Patients with mild to moderate injuries may receive skull and neck X-rays to check for bone fractures or spinal instability. For moderate to severe cases, the imaging test is a computed tomography (CT) scan. Moderately to severely injured patients receive rehabilitation that involves individually tailored treatment programs in the areas of physical therapy, occupational therapy, speech/language therapy, physiatry (physical medicine), psychology/psychiatry, and social support.",NINDS,Traumatic Brain Injury +What is the outlook for Traumatic Brain Injury ?,"Approximately half of severely head-injured patients will need surgery to remove or repair hematomas (ruptured blood vessels) or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. Some common disabilities include problems with cognition (thinking, memory, and reasoning), sensory processing (sight, hearing, touch, taste, and smell), communication (expression and understanding), and behavior or mental health (depression, anxiety, personality changes, aggression, acting out, and social inappropriateness). More serious head injuries may result in stupor, an unresponsive state, but one in which an individual can be aroused briefly by a strong stimulus, such as sharp pain; coma, a state in which an individual is totally unconscious, unresponsive, unaware, and unarousable; vegetative state, in which an individual is unconscious and unaware of his or her surroundings, but continues to have a sleep-wake cycle and periods of alertness; and a persistent vegetative state (PVS), in which an individual stays in a vegetative state for more than a month.",NINDS,Traumatic Brain Injury +what research (or clinical trials) is being done for Traumatic Brain Injury ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports TBI research through grants to major medical institutions across the country and conducts TBI research in its intramural laboratories and Clinical Center at the National Institutes of Health (NIH) in Bethesda,Maryland. The Center for Neuroscience and Regenerative Medicine (CNRM) is a TBI research collaboration between intramural NIH and the Uniformed Services University for the Health Sciences (USUHS). NINDS-funded research involves studies in the laboratory and in clinical settings to better understand TBI and the biological mechanisms underlying damage to the brain. This research will allow scientists to develop strategies and interventions to limit the primary and secondary brain damage that occurs within days of a head trauma, and to devise therapies to treat brain injury and improve long-term recovery of function. + +More information about Traumatic Brain Injury (TBI) Research is available at: http://www.ninds.nih.gov/research/tbi/index.htm + +More information about CNRM clinical studies is available at: http://cnrmstudies.org/",NINDS,Traumatic Brain Injury +What is (are) Cavernous Malformation ?,"Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).",NINDS,Cavernous Malformation +What are the treatments for Cavernous Malformation ?,"The primary treatment option for a CCM is surgical removal. Radiation therapy has not been shown to be effective. The decision to operate is made based upon the risk of approaching the lesion. For example, symptomatic lesions close to the brain surface in non eloquent brain (areas for example, those areas not involved with motor function, speech, vision, hearing, memory, and learning) are very likely to be candidates for removal. On the other hand, lesions located in deep brain areas are associated with higher surgical risk and are often not candidates for surgery until the lesion has bled multiple times. Medications can often lessen general symptoms such as headache, back pain, and seizures.",NINDS,Cavernous Malformation +What is the outlook for Cavernous Malformation ?,"Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.",NINDS,Cavernous Malformation +what research (or clinical trials) is being done for Cavernous Malformation ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.",NINDS,Cavernous Malformation +What is (are) Farber's Disease ?,"Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.",NINDS,Farber's Disease +What are the treatments for Farber's Disease ?,Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.,NINDS,Farber's Disease +What is the outlook for Farber's Disease ?,"Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.",NINDS,Farber's Disease +what research (or clinical trials) is being done for Farber's Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. The NINDS, along with other Institutes and Centers at the National Institutes of Health, supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.",NINDS,Farber's Disease +What is (are) Carpal Tunnel Syndrome ?,"Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist. People might have difficulty with tasks such as driving or reading a book. Decreased hand strength may make it difficult to grasp small objects or perform other manual tasks. In some cases no direct cause of the syndrome can be identified. Contributing factors include trauma or injury to the wrist that causes swelling, thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.",NINDS,Carpal Tunnel Syndrome +What are the treatments for Carpal Tunnel Syndrome ?,"Initial treatment generally involves immobilizing the wrist in a splint, nonsteroidal anti-inflammatory drugs to temporarily reduce swelling, and injections of corticosteroid drugs (such as prednisone). For more severe cases, surgery may be recommended.",NINDS,Carpal Tunnel Syndrome +What is the outlook for Carpal Tunnel Syndrome ?,"In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straight, and use correct posture and wrist position to help prevent or worsen symptoms. Wearing fingerless gloves can help keep hands warm and flexible.",NINDS,Carpal Tunnel Syndrome +what research (or clinical trials) is being done for Carpal Tunnel Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to conduct fundamental research on the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded scientists are studying the factors that lead to long-lasting nerve pain disorders, and how the affected nerves are related to symptoms of numbness, loss of function, and pain. Researchers also are examining biomechanical stresses that contribute to the nerve damage responsible for symptoms of carpal tunnel syndrome in order to better understand, treat, and prevent it.",NINDS,Carpal Tunnel Syndrome +What is (are) Whiplash ?,"Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.",NINDS,Whiplash +What are the treatments for Whiplash ?,"Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. Supplemental heat application may relieve muscle tension.",NINDS,Whiplash +What is the outlook for Whiplash ?,"Generally, prognosis for individuals with whiplash is good. The neck and head pain clears within a few days or weeks. Most patients recover within 3 months after the injury, however, some may continue to have residual neck pain and headaches.",NINDS,Whiplash +what research (or clinical trials) is being done for Whiplash ?,The NINDS conducts and supports research on trauma-related disorders such as whiplash. Much of this research focuses on increasing scientific understanding of these disorders and finding ways to prevent and treat them.,NINDS,Whiplash +What is (are) Meralgia Paresthetica ?,"Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. Meralgia paresthetica should not be associated with weakness or radiating pain from the back.",NINDS,Meralgia Paresthetica +What are the treatments for Meralgia Paresthetica ?,"Treatment for meralgia paresthetica is symptomatic and supportive. The majority of cases improve with conservative treatment by wearing looser clothing and losing weight. Medications used to treat neurogenic pain, such as anti-seizure or anti-depressant medications, may alleviate symptoms of pain. In a few cases, in which pain is persistent or severe, surgical intervention may be indicated.",NINDS,Meralgia Paresthetica +What is the outlook for Meralgia Paresthetica ?,"Meralgia paresthetica usually has a good prognosis. In most cases, meralgia paresthetica will improve with conservative treatment or may even spontaneously resolve. Surgical intervention is not always fully successful.",NINDS,Meralgia Paresthetica +what research (or clinical trials) is being done for Meralgia Paresthetica ?,"Within the NINDS research programs, meralgia paresthetica is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing these debilitating conditions.",NINDS,Meralgia Paresthetica +What is (are) Sturge-Weber Syndrome ?,Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be intermittent or permanent muscle weakness on the same side. Some children will have developmental delays and cognitive impairment; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs.,NINDS,Sturge-Weber Syndrome +What are the treatments for Sturge-Weber Syndrome ?,Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.,NINDS,Sturge-Weber Syndrome +What is the outlook for Sturge-Weber Syndrome ?,"Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.",NINDS,Sturge-Weber Syndrome +what research (or clinical trials) is being done for Sturge-Weber Syndrome ?,"The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.",NINDS,Sturge-Weber Syndrome +What is (are) Pelizaeus-Merzbacher Disease ?,"Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are: + +- Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; - Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; - Complicated SPG2, which features motor development issues and brain involvement, and, - Pure SPG2, which includes cases of PMD that do not have neurologic complications. + +Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.",NINDS,Pelizaeus-Merzbacher Disease +What are the treatments for Pelizaeus-Merzbacher Disease ?,"There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders.",NINDS,Pelizaeus-Merzbacher Disease +What is the outlook for Pelizaeus-Merzbacher Disease ?,"The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.",NINDS,Pelizaeus-Merzbacher Disease +what research (or clinical trials) is being done for Pelizaeus-Merzbacher Disease ?,"NINDS supports research on gene-linked disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and ultimately cure them.",NINDS,Pelizaeus-Merzbacher Disease +What is (are) Piriformis Syndrome ?,"Piriformis syndrome is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The piriformis muscle is a narrow muscle located in the buttocks. Compression of the sciatic nerve causes pain-frequently described as tingling or numbness-in the buttocks and along the nerve, often down to the leg. The pain may worsen as a result of sitting for a long period of time, climbing stairs, walking, or running.",NINDS,Piriformis Syndrome +What are the treatments for Piriformis Syndrome ?,"Generally, treatment for the disorder begins with stretching exercises and massage. Anti-inflammatory drugs may be prescribed. Cessation of running, bicycling, or similar activities may be advised. A corticosteroid injection near where the piriformis muscle and the sciatic nerve meet may provide temporary relief. In some cases, surgery is recommended.",NINDS,Piriformis Syndrome +What is the outlook for Piriformis Syndrome ?,"The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening.",NINDS,Piriformis Syndrome +what research (or clinical trials) is being done for Piriformis Syndrome ?,"Within the NINDS research programs, piriformis syndrome is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as piriformis syndrome.",NINDS,Piriformis Syndrome +What is (are) Epilepsy ?,"The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.",NINDS,Epilepsy +What are the treatments for Epilepsy ?,"Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly those that are not easily controlled, may want to see a neurologist specifically trained to treat epilepsy. In some children, special diets may help to control seizures when medications are either not effective or cause serious side effects.",NINDS,Epilepsy +What is the outlook for Epilepsy ?,"While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems in conjunction with seizures. Issues may also arise as a result of the stigma attached to having epilepsy, which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social settings. For many people with epilepsy, the risk of seizures restricts their independence (some states refuse drivers licenses to people with epilepsy) and recreational activities. + +Epilepsy can be a life-threatening condition. Some people with epilepsy are at special risk for abnormally prolonged seizures or sudden unexplained death in epilepsy.",NINDS,Epilepsy +what research (or clinical trials) is being done for Epilepsy ?,"Scientists are studying the underlying causes of the epilepsies in children, adults, and the elderly, as well as seizures that occur following brain trauma, stroke, and brain tumors. Ongoing research is focused on developing new model systems that can be used to more quickly screen potential new treatments for the epilepsies. The identification of genes or other genetic information that may influence or cause the epilepsies may allow doctors to prevent the disorders or to predict which treatments will be most beneficial to individuals with specific types of epilepsy. Scientists also continue to study how neurotransmitters interact with brain cells to control nerve firing and how non-neuronal cells in the brain contribute to seizures. Researchers funded by the National Institutes of Health have developed a flexible brain implant that could one day be used to treat seizures. Scientists are continually improving MRI and other brain scans that may assist in diagnosing the epilepsies and identify the source, or focus, of the seizures in the brain. Other areas of study include prevention of seizures and the role of inflammation in epilepsy. Patients may enter trials of experimental drugs and surgical interventions. + +More about epilepsy research",NINDS,Epilepsy +What is (are) Reye's Syndrome ?,"Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness, medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. Epidemiologic evidence indicates that aspirin (salicylate) is the major preventable risk factor for Reye's syndrome. The mechanism by which aspirin and other salicylates trigger Reye's syndrome is not completely understood. A ""Reye's-like"" illness may occur in children with genetic metabolic disorders and other toxic disorders. A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.",NINDS,Reye's Syndrome +What are the treatments for Reye's Syndrome ?,"There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.",NINDS,Reye's Syndrome +What is the outlook for Reye's Syndrome ?,"Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days.",NINDS,Reye's Syndrome +what research (or clinical trials) is being done for Reye's Syndrome ?,"Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific understanding, diagnosis and medical treatment of RS.",NINDS,Reye's Syndrome +What is (are) Generalized Gangliosidoses ?,"The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two distinct groups of the gangliosidoses, which affect males and females equally. + +The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase. Signs of early infantile GM1 gangliodisosis (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait. About half of affected persons develop cherry-red spots in the eye. Children may be deaf and blind by age 1.Onset of late infantile GM1 gangliosidosisis typically between ages 1 and 3 years. Signs include an inability to control movement, seizures, dementia, and difficulties with speech. Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder. + +The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease, both of whichresult from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6 months and include progressive mental deterioration, cherry-red spots in the retina, marked startle reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder, which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an abnormally enlarged head, and an enlarged liver and spleen.",NINDS,Generalized Gangliosidoses +What are the treatments for Generalized Gangliosidoses ?,No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open.,NINDS,Generalized Gangliosidoses +What is the outlook for Generalized Gangliosidoses ?,Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections.,NINDS,Generalized Gangliosidoses +what research (or clinical trials) is being done for Generalized Gangliosidoses ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.",NINDS,Generalized Gangliosidoses +What is (are) Tuberous Sclerosis ?,"Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.",NINDS,Tuberous Sclerosis +What are the treatments for Tuberous Sclerosis ?,"There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.",NINDS,Tuberous Sclerosis +What is the outlook for Tuberous Sclerosis ?,"The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.",NINDS,Tuberous Sclerosis +what research (or clinical trials) is being done for Tuberous Sclerosis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. Another study focuses on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC and to find the molecular basis of these tumors. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure.",NINDS,Tuberous Sclerosis +What is (are) Klver-Bucy Syndrome ?,"Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. The disorder may be associated with herpes encephalitis and trauma, which can result in brain damage.",NINDS,Klver-Bucy Syndrome +What are the treatments for Klver-Bucy Syndrome ?,"Treatment is symptomatic and supportive, and may include drug therapy.",NINDS,Klver-Bucy Syndrome +What is the outlook for Klver-Bucy Syndrome ?,"There is no cure for Klver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline.",NINDS,Klver-Bucy Syndrome +what research (or clinical trials) is being done for Klver-Bucy Syndrome ?,NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.,NINDS,Klver-Bucy Syndrome +What is (are) Neurological Consequences of Cytomegalovirus Infection ?,"Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zoster virus). Most people who acquire CVM as children or adults display no signs of illness or have mild symptoms such as fever, fatigue, or tender lymph nodes. People with a compromised immune system may have more severe forms of infection involving the nervous system. + +A hallmark of CMV infection is that the virus cycles through periods of dormancy and active infection during the life of the individual Infected persons of any age periodically shed the virus in their body fluids, such as saliva, urine, blood, tears, semen, or breast milk. CMV is most commonly transmitted when infected body fluids come in contact with the mucous membranes of an uninfected person, but the virus can also pass from mother to fetus during pregnancy.",NINDS,Neurological Consequences of Cytomegalovirus Infection +What are the treatments for Neurological Consequences of Cytomegalovirus Infection ?,"Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when handling body fluids or contaminated materials (such as diapers or tissues), avoiding shared dishes, utensils, and other personal items, and consistent and thorough hand-washing. + +Antiviral drugs (ganciclovir and others)can be used to prevent or control the symptoms of CMV infection in immunocompromised individuals or some infants with congenital infection. CMV immunoglobulin may also be used in some patients. Vaccines are in the development and human clinical trial stages, which shows that vaccines may help prevent initial CMV infection or decrease the severity of symptoms.",NINDS,Neurological Consequences of Cytomegalovirus Infection +What is the outlook for Neurological Consequences of Cytomegalovirus Infection ?,"For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects: + +- Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U.S. Most infants will have no permanent health consequences, but a small number will have at birth or will develop long-term neurological conditions, such as hearing loss, visual impairment, seizures, or disabilities f mental or physical function. The highest risk of these severe effects on the fetus is for women who acquire CMV infection for the first time during pregnancy. The risk is much lower for women who have had CMV infection in the past before pregnancy. - Immunocompromised individuals. CMV infection may be severe in solid organ or blood cell transplant recipients, people with untreated or end-stage HIV-AIDS, or others with altered immune function. Infection may affect the brain (encephalitis), spinal cord (myelitis), eye (retinitis), or other organs such as the lungs (pneumonia) or intestinal gract (gastritis, enteritis, or colitis). In addition, transplant recipients may develop organ rejection or graft-versus-host disease associated with CMV infection.",NINDS,Neurological Consequences of Cytomegalovirus Infection +what research (or clinical trials) is being done for Neurological Consequences of Cytomegalovirus Infection ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat CMV infection in people at risk of severe neurological consequences, especially a safe and effective CMV vaccine.",NINDS,Neurological Consequences of Cytomegalovirus Infection +What is (are) Hydranencephaly ?,"Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems.",NINDS,Hydranencephaly +What are the treatments for Hydranencephaly ?,There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another).,NINDS,Hydranencephaly +What is the outlook for Hydranencephaly ?,"The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.",NINDS,Hydranencephaly +what research (or clinical trials) is being done for Hydranencephaly ?,"The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly.",NINDS,Hydranencephaly +What is (are) Neurological Sequelae Of Lupus ?,"Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening. + +Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.",NINDS,Neurological Sequelae Of Lupus +What are the treatments for Neurological Sequelae Of Lupus ?,"There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs.",NINDS,Neurological Sequelae Of Lupus +What is the outlook for Neurological Sequelae Of Lupus ?,"The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs.",NINDS,Neurological Sequelae Of Lupus +what research (or clinical trials) is being done for Neurological Sequelae Of Lupus ?,"Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus.",NINDS,Neurological Sequelae Of Lupus +What is (are) Spinal Muscular Atrophy ?,"Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair. The lower extremities are most often affected. Complications include scoliosis and chronic shortening of muscles or tendons around joints.",NINDS,Spinal Muscular Atrophy +What are the treatments for Spinal Muscular Atrophy ?,There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.,NINDS,Spinal Muscular Atrophy +What is the outlook for Spinal Muscular Atrophy ?,"The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms Life expectancy is reduced but some individuals live into adolescence or young adulthood. Individuals with SMA type III may be prone to respiratory infections but with care may have a normal lifespan.",NINDS,Spinal Muscular Atrophy +what research (or clinical trials) is being done for Spinal Muscular Atrophy ?,"Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.",NINDS,Spinal Muscular Atrophy +What is (are) Angelman Syndrome ?,"Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having ""flat heads, jerky movements, protruding tongues, and bouts of laughter."" Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.",NINDS,Angelman Syndrome +What are the treatments for Angelman Syndrome ?,"There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.",NINDS,Angelman Syndrome +What is the outlook for Angelman Syndrome ?,"Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.",NINDS,Angelman Syndrome +what research (or clinical trials) is being done for Angelman Syndrome ?,"The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.",NINDS,Angelman Syndrome +What is (are) Pervasive Developmental Disorders ?,"The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.",NINDS,Pervasive Developmental Disorders +What are the treatments for Pervasive Developmental Disorders ?,There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. Others function well in standard special education classes or regular classes with additional support.,NINDS,Pervasive Developmental Disorders +What is the outlook for Pervasive Developmental Disorders ?,Early intervention including appropriate and specialized educational programs and support services plays a critical role in improving the outcome of individuals with PDD. PDD is not fatal and does not affect normal life expectancy.,NINDS,Pervasive Developmental Disorders +what research (or clinical trials) is being done for Pervasive Developmental Disorders ?,"The NINDS conducts and supports research on developmental disabilities, including PDD. Much of this research focuses on understanding the neurological basis of PDD and on developing techniques to diagnose, treat, prevent, and ultimately cure this and similar disorders.",NINDS,Pervasive Developmental Disorders +What is (are) Transient Ischemic Attack ?,"A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.",NINDS,Transient Ischemic Attack +What are the treatments for Transient Ischemic Attack ?,"Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. Depending on a patient's medical history and the results of a medical examination, the doctor may recommend drug therapy or surgery to reduce the risk of stroke in people who have had a TIA. The use of antiplatelet agents, particularly aspirin, is a standard treatment for patients at risk for stroke. People with atrial fibrillation (irregular beating of the heart) may be prescribed anticoagulants.",NINDS,Transient Ischemic Attack +What is the outlook for Transient Ischemic Attack ?,"TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. The most important treatable factors linked to TIAs and stroke are high blood pressure, cigarette smoking, heart disease, carotid artery disease, diabetes, and heavy use of alcohol. Medical help is available to reduce and eliminate these factors. Lifestyle changes such as eating a balanced diet, maintaining healthy weight, exercising, and enrolling in smoking and alcohol cessation programs can also reduce these factors.",NINDS,Transient Ischemic Attack +what research (or clinical trials) is being done for Transient Ischemic Attack ?,NINDS is the leading supporter of research on stroke and TIA in the U.S. and sponsors studies ranging from clinical trials to investigations of basic biological mechanisms as well as studies with animals.,NINDS,Transient Ischemic Attack +What is (are) Normal Pressure Hydrocephalus ?,"Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way. This causes the ventricles to enlarge, putting pressure on the brain. Normal pressure hydrocephalus can occur in people of any age, but it is most common in the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery. However, many people develop NPH even when none of these factors are present. In these cases the cause of the disorder is unknown. + +Symptoms of NPH include progressive mental impairment and dementia, problems with walking, and impaired bladder control. The person also may have a general slowing of movements or may complain that his or her feet feel ""stuck."" Because these symptoms are similar to those of other disorders such as Alzheimer's disease, Parkinson's disease, and Creutzfeldt-Jakob disease, the disorder is often misdiagnosed. Many cases go unrecognized and are never properly treated. Doctors may use a variety of tests, including brain scans (CT and/or MRI), a spinal tap or lumbar catheter, intracranial pressure monitoring, and neuropsychological tests, to help them diagnose NPH and rule out other conditions.",NINDS,Normal Pressure Hydrocephalus +What are the treatments for Normal Pressure Hydrocephalus ?,Treatment for NPH involves surgical placement of a shunt in the brain to drain excess CSF into the abdomen where it can be absorbed as part of the normal circulatory process. This allows the brain ventricles to return to their normal size. Regular follow-up care by a physician is important in order to identify subtle changes that might indicate problems with the shunt.,NINDS,Normal Pressure Hydrocephalus +What is the outlook for Normal Pressure Hydrocephalus ?,"The symptoms of NPH usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. Early diagnosis and treatment improves the chance of a good recovery. Without treatment, symptoms may worsen and cause death.",NINDS,Normal Pressure Hydrocephalus +what research (or clinical trials) is being done for Normal Pressure Hydrocephalus ?,"The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such as normal pressure hydrocephalus focuses on increasing knowledge and understanding of the disorder, improving diagnostic techniques and neuroimaging, and finding improved treatments and preventions.",NINDS,Normal Pressure Hydrocephalus +What is (are) Anencephaly ?,"Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. + +The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. + +Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.",NINDS,Anencephaly +What are the treatments for Anencephaly ?,There is no cure or standard treatment for anencephaly. Treatment is supportive.,NINDS,Anencephaly +What is the outlook for Anencephaly ?,"The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth.",NINDS,Anencephaly +what research (or clinical trials) is being done for Anencephaly ?,"Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects.",NINDS,Anencephaly +What is (are) Striatonigral Degeneration ?,"Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.",NINDS,Striatonigral Degeneration +What are the treatments for Striatonigral Degeneration ?,"There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.",NINDS,Striatonigral Degeneration +What is the outlook for Striatonigral Degeneration ?,Striatonigral degeneration progresses slowly. Some patients have normal life expectancy.,NINDS,Striatonigral Degeneration +what research (or clinical trials) is being done for Striatonigral Degeneration ?,The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.,NINDS,Striatonigral Degeneration +What is (are) Cerebral Aneurysms ?,"A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as headache, numbness, loss of feeling in the face or problems with the eyes. Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness.",NINDS,Cerebral Aneurysms +What are the treatments for Cerebral Aneurysms ?,"For unruptured aneurysms, treatment may be recommended for large or irregularly-shaped aneurysms or for those causing symptoms. Emergency treatment for individuals with a ruptured cerebral aneurysm may be required to restore deteriorating respiration and reduce abnormally high pressure within the brain. Treatment is necessary to prevent the aneurysm from rupturing again. Surgical treatment prevents repeat aneurysm rupture by placing a metal clip at the base of the aneurysm. Individuals for whom surgery is considered too risky may be treated by inserting the tip of a catheter into an artery in the groin and advancing it through the blood stream to the site of the aneurysm, where it is used to insert metal coils that induce clot formation within the aneurysm.",NINDS,Cerebral Aneurysms +What is the outlook for Cerebral Aneurysms ?,"The prognosis for a individual with a ruptured cerebral aneurysm depends on the location of the aneurysm, extent of bleeding or rebleeding, the person's age, general health, pre-existing neurological conditions, adn time between rupture and medical attention. Early diagnosis and treatment are important. A burst cerebral aneurysm may be fatal or could lead to hemorrhagic stroke, vasospasm (in which other blood vessels in the brain contract and limit blood flow), hydrocephalus, coma, or short-term and/or permanent brain damage. Recovery from treatment or rupture may take weeks to months.",NINDS,Cerebral Aneurysms +what research (or clinical trials) is being done for Cerebral Aneurysms ?,The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions. The NINDS supports a broad range of basic and clinical research on intracranial aneurysms and other vascular lesions of the nervous system. The Familial Intracranial Aneurysm study seeks to identify possible genes that may increase the risk of development of aneurysms in blood vessels in the brain. Other research projects include genome-wide studies to identify genes or DNA sequences that may indicate families harboring one type of aneurysm may be at increased risk of another type; studies of chromosomes to identify aneurysm-related genes; and additional research on microsurgical clipping and endovascular surgery to treat various types of ruptured and unruptured aneurysms.,NINDS,Cerebral Aneurysms +What is (are) Incontinentia Pigmenti ?,"Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.",NINDS,Incontinentia Pigmenti +What are the treatments for Incontinentia Pigmenti ?,"The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist.",NINDS,Incontinentia Pigmenti +What is the outlook for Incontinentia Pigmenti ?,"Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties.",NINDS,Incontinentia Pigmenti +what research (or clinical trials) is being done for Incontinentia Pigmenti ?,"Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.",NINDS,Incontinentia Pigmenti +What is (are) Septo-Optic Dysplasia ?,"Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.",NINDS,Septo-Optic Dysplasia +What are the treatments for Septo-Optic Dysplasia ?,"Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.",NINDS,Septo-Optic Dysplasia +What is the outlook for Septo-Optic Dysplasia ?,The prognosis for individuals with SOD varies according to the presence and severity of symptoms.,NINDS,Septo-Optic Dysplasia +what research (or clinical trials) is being done for Septo-Optic Dysplasia ?,"The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.",NINDS,Septo-Optic Dysplasia +What is (are) Diabetic Neuropathy ?,"Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tingling in the feet or lower legs. The pain can be intense and require treatment to relieve the discomfort. The loss of sensation in the feet may also increase the possibility that foot injuries will go unnoticed and develop into ulcers or lesions that become infected. In some cases, diabetic neuropathy can be associated with difficulty walking and some weakness in the foot muscles. There are other types of diabetic-related neuropathies that affect specific parts of the body. For example, diabetic amyotrophy causes pain, weakness and wasting of the thigh muscles, or cranial nerve infarcts that may result in double vision, a drooping eyelid, or dizziness. Diabetes can also affect the autonomic nerves that control blood pressure, the digestive tract, bladder function, and sexual organs. Problems with the autonomic nerves may cause lightheadedness, indigestion, diarrhea or constipation, difficulty with bladder control, and impotence.",NINDS,Diabetic Neuropathy +What are the treatments for Diabetic Neuropathy ?,"The goal of treating diabetic neuropathy is to prevent further tissue damage and relieve discomfort. The first step is to bring blood sugar levels under control by diet and medication. Another important part of treatment involves taking special care of the feet by wearing proper fitting shoes and routinely checking the feet for cuts and infections. Analgesics, low doses of antidepressants, and some anticonvulsant medications may be prescribed for relief of pain, burning, or tingling. Some individuals find that walking regularly, taking warm baths, or using elastic stockings may help relieve leg pain.",NINDS,Diabetic Neuropathy +What is the outlook for Diabetic Neuropathy ?,"The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patients.",NINDS,Diabetic Neuropathy +what research (or clinical trials) is being done for Diabetic Neuropathy ?,The NINDS conducts and supports research on diabetic neuropathy to increase understanding of the disorder and find ways to prevent and cure it. New medications are currently being examined to assess improvement or stabilization of neuropathic symptoms.,NINDS,Diabetic Neuropathy +What is (are) Infantile Spasms ?,"An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.",NINDS,Infantile Spasms +What are the treatments for Infantile Spasms ?,"Treatment with corticosteroids such as prednisone is standard, although serious side effects can occur. Several newer antiepileptic medications, such as topiramate may ease some symptoms. Vigabatrin (Sabril) has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages one month to two years. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.",NINDS,Infantile Spasms +What is the outlook for Infantile Spasms ?,"The prognosis for children with IS is dependent on the underlying causes of the seizures. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. Epileptic spasms usually reduce in number by mid-childhood, but more than half of the children with IS will develop other types of seizures. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epileptic disorder of later childhood.",NINDS,Infantile Spasms +what research (or clinical trials) is being done for Infantile Spasms ?,"The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will be developed to treat IS and West Syndrome.",NINDS,Infantile Spasms +What is (are) Friedreich's Ataxia ?,"Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscle coordination (ataxia) results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear in adulthood or later. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. People lave loss of sensation in the arms and legs, which may spread to other parts of the body. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart problems. Some individuals may develop diabetes. Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG, which measures the electrical activity of cells) and genetic testing.",NINDS,Friedreich's Ataxia +What are the treatments for Friedreich's Ataxia ?,"There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.",NINDS,Friedreich's Ataxia +What is the outlook for Friedreich's Ataxia ?,"Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s, 70s, or longer.",NINDS,Friedreich's Ataxia +what research (or clinical trials) is being done for Friedreich's Ataxia ?,"Friedreich's ataxia is caused by a mutation in the protein frataxin, which is involved in the function of mitochondriathe energy producing power plants of the cell. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability.NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreichs ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin, which could lead to potential ways to reverse the silencing and restore normal gene function.And researchers are using next-generation sequencing (which can quickly identify the structure of millions of small fragments of DNA at the same time) to identify novel genes in Friedreich's ataxia.",NINDS,Friedreich's Ataxia +What is (are) Post-Polio Syndrome ?,"Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). Pain from joint deterioration and increasing skeletal deformities such as scoliosis are common. Some individuals experience only minor symptoms, while others develop more visible muscle weakness and atrophy. PPS is rarely life-threatening but the symptoms can interfere significantly with the individual's capacity to function independently. While polio is contagious, PPS is not transmissible. Only a polio survivor can develop PPS.",NINDS,Post-Polio Syndrome +What are the treatments for Post-Polio Syndrome ?,"Presently, no prevention has been found that can stop deterioration or reverse the deficits caused by the syndrome A number of controlled studies have demonstrated that nonfatiguing exercises may improve muscle strength and reduce tiredness. Doctors recommend that polio survivors follow standard healthy lifestyle practices: consuming a well-balanced diet, exercising judiciously (preferably under the supervision of an experienced health professional), and visiting a doctor regularly. There has been much debate about whether to encourage or discourage exercise for polio survivors or individuals who already have PPS. A commonsense approach, in which people use individual tolerance as their limit, is currently recommended. Preliminary studies indicate that intravenous immunoglobulin therapy may reduce pain, increase quality of life, and improve strength modestly.",NINDS,Post-Polio Syndrome +What is the outlook for Post-Polio Syndrome ?,"PPS is a very slowly progressing condition marked by long periods of stability. The severity of PPS depends on the degree of the residual weakness and disability an individual has after the original polio attack. People who had only minimal symptoms from the original attack and subsequently develop PPS will most likely experience only mild PPS symptoms. People originally hit hard by the polio virus, who were left with severe residual weakness, may develop a more severe case of PPS with a greater loss of muscle function, difficulty in swallowing, and more periods of fatigue.",NINDS,Post-Polio Syndrome +what research (or clinical trials) is being done for Post-Polio Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PPS in laboratories at the NIH, and also support additional PPS research through grants to major medical institutions across the country.",NINDS,Post-Polio Syndrome +What is (are) Opsoclonus Myoclonus ?,"Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone, lethargy, irritability, and malaise (a vague feeling of bodily discomfort) may also be present. Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.",NINDS,Opsoclonus Myoclonus +What are the treatments for Opsoclonus Myoclonus ?,"Treatment for opsoclonus myoclonus may include corticosteroids or ACTH (adrenocorticotropic hormone). In cases where there is a tumor present, treatment such as chemotherapy, surgery, or radiation may be required.",NINDS,Opsoclonus Myoclonus +What is the outlook for Opsoclonus Myoclonus ?,"The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal.",NINDS,Opsoclonus Myoclonus +what research (or clinical trials) is being done for Opsoclonus Myoclonus ?,"The NINDS supports and conducts research on movement disorders such as opsoclonus myoclonus. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.",NINDS,Opsoclonus Myoclonus +What is (are) Paraneoplastic Syndromes ?,"Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a ""neoplasm."" Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous system. These disorders typically affect middle-aged to older people and are most common in individuals with lung, ovarian, lymphatic, or breast cancer. Neurologic symptoms generally develop over a period of days to weeks and usually occur prior to the tumor being discovered. These symptoms may include difficulty in walking or swallowing, loss of muscle tone, loss of fine motor coordination, slurred speech, memory loss, vision problems, sleep disturbances, dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome, stiff-person syndrome, encephalomyelitis, myasthenia gravis, cerebellar degeneration, limbic or brainstem encephalitis, neuromyotonia, opsoclonus, and sensory neuropathy.",NINDS,Paraneoplastic Syndromes +What are the treatments for Paraneoplastic Syndromes ?,"When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people with paraneoplastic disorders that affect the peripheral nervous system. Speech and physical therapy may help individuals regain some functions.",NINDS,Paraneoplastic Syndromes +What is the outlook for Paraneoplastic Syndromes ?,"There are no cures for paraneoplastic syndromes. There are no available treatments to stop progressive neurological damage. Generally, the stage of cancer at diagnosis determines the outcome.",NINDS,Paraneoplastic Syndromes +what research (or clinical trials) is being done for Paraneoplastic Syndromes ?,"Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. Scientists also hope to develop animal models for these diseases, which may be used to determine effective treatment strategies.",NINDS,Paraneoplastic Syndromes +What is (are) Brachial Plexus Injuries ?,"The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries). + +The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.",NINDS,Brachial Plexus Injuries +What are the treatments for Brachial Plexus Injuries ?,"Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.",NINDS,Brachial Plexus Injuries +What is the outlook for Brachial Plexus Injuries ?,"The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100% return of function.",NINDS,Brachial Plexus Injuries +what research (or clinical trials) is being done for Brachial Plexus Injuries ?,The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.,NINDS,Brachial Plexus Injuries +What is (are) Barth Syndrome ?,"Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.",NINDS,Barth Syndrome +What are the treatments for Barth Syndrome ?,"There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.",NINDS,Barth Syndrome +What is the outlook for Barth Syndrome ?,"Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children.",NINDS,Barth Syndrome +what research (or clinical trials) is being done for Barth Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which can be used to investigate potential treatments. Scientists hope to develop unique approaches to treating mitochondrial diseases through a better understanding of mitochondrial biology. Because people affected by mitochondrial disease often have a mixture of healthy and mutant mitochondria in their cells, effective therapy could involve getting the healthy mitochondria to take over for the diseased ones.",NINDS,Barth Syndrome +What is (are) Developmental Dyspraxia ?,"Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of average or above average intelligence, they may behave immaturely.",NINDS,Developmental Dyspraxia +What are the treatments for Developmental Dyspraxia ?,"Treatment is symptomatic and supportive and may include occupational and speech therapy, and ""cueing"" or other forms of communication such as using pictures and hand gestures. Many children with the disorder require special education.",NINDS,Developmental Dyspraxia +What is the outlook for Developmental Dyspraxia ?,Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.,NINDS,Developmental Dyspraxia +what research (or clinical trials) is being done for Developmental Dyspraxia ?,"The NINDS supports research on developmental disorders, such as developmental dyspraxia, aimed at learning more about these disorders, and finding ways to prevent and treat them.",NINDS,Developmental Dyspraxia +What is (are) Syringomyelia ?,"Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands.Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.",NINDS,Syringomyelia +What are the treatments for Syringomyelia ?,"Surgery is usually recommended for individuals with syringomyelia, with the type of surgery and its location dependent on the type of syrinx. In persons with syringomyelia that is associated with the Chiara I malformation, a procedure that removes skulll bone and expands the space around the malformation usually prevents new symptoms from developing and results in the syrinx becoming smaller. In some individuals it may be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term. + +In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in individuals of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many individuals are told to avoid activities that involve straining.",NINDS,Syringomyelia +What is the outlook for Syringomyelia ?,"Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury.",NINDS,Syringomyelia +what research (or clinical trials) is being done for Syringomyelia ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS investigators are studying how syrinxes first form, as well as the mechanisms of the disorders. NINDS investigators have found that the normal flow of cerebrospinal fluid that occurs with each heartbeat is obstructed in people with syringomyelia. Surgical procedures that relieve this obstruction usually result in the syrinx becoming much smaller in size. Studies are also underway to identify and better understand genetic factors that influence the development of Chiari I malformations and syringomyelia. Researchers hope to better understand the role of birth defects of the skull and brain in the development of hindbrain malformations that can lead to syringomyelia. Diagnostic technology is another area for continued research. + +NINDS scientists are examining individuals who either have syringomyelia or are at risk of developing the disorder. They are investigating the factors that influence its development, progression, and treatment by recording more than 5 years of symptoms, muscle strength, overall function, and magnetic resonance imaging (MRI) scan findings from individuals who receive standard treatment for syringomyelia. Study results may allow scientists to provide more accurate recommendations to future individuals with syringomyelia regarding optimal surgical or non-surgical treatments.",NINDS,Syringomyelia +What is (are) Tropical Spastic Paraparesis ?,"For several decades the term tropical spastic paraparesis (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. The cause of TSP was obscure until the mid-1980s, when an important association was established between the human retrovirus human T-cell lymphotrophic virus type 1 (also known as HTLV-1) and TSP. TSP is now called HTLV-1 associated myelopathy/ tropical spastic paraparesis or HAM/TSP. The HTLV-1 retrovirus is thought to cause at least 80 percent of the cases of HAM/TSP by impairing the immune system. In addition to neurological symptoms of weakness and muscle stiffness or spasms, in rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), arthritis (inflammation of one or more joints), pulmonary lymphocytic alveolitis (inflammation of the lung), polymyositis (an inflammatory muscle disease), keratoconjunctivitis sicca (persistent dryness of the cornea and conjunctiva), and infectious dermatitis (inflammation of the skin). The other serious complication of HTLV-1 infection is the development of adult T-cell leukemia or lymphoma. Nervous system and blood-related complications occur only in a very small proportion of infected individuals, while most remain largely without symptoms throughout their lives. + +The HTLV-1 virus is transmitted person-to-person via infected cells: breast-feeding by mothers who are seropositive (in other words, have high levels of virus antibodies in their blood), sharing infected needles during intravenous drug use, or having sexual relations with a seropositive partner. Less than 2 percent of HTLV-1 seropositive carriers will become HAM/TSP patients.",NINDS,Tropical Spastic Paraparesis +What are the treatments for Tropical Spastic Paraparesis ?,"There is no established treatment program for HAM/TSP. Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine. Urinary dysfunction may be treated with oxybutynin.",NINDS,Tropical Spastic Paraparesis +What is the outlook for Tropical Spastic Paraparesis ?,"HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs.",NINDS,Tropical Spastic Paraparesis +what research (or clinical trials) is being done for Tropical Spastic Paraparesis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to HAM/TSP in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as HAM/TSP.",NINDS,Tropical Spastic Paraparesis +What is (are) Dysgraphia ?,"Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person's writing to be distorted or incorrect. In children, the disorder generally emerges when they are first introduced to writing. They make inappropriately sized and spaced letters, or write wrong or misspelled words, despite thorough instruction. Children with the disorder may have other learning disabilities; however, they usually have no social or other academic problems. Cases of dysgraphia in adults generally occur after some trauma. In addition to poor handwriting, dysgraphia is characterized by wrong or odd spelling, and production of words that are not correct (i.e., using ""boy"" for ""child""). The cause of the disorder is unknown, but in adults, it is usually associated with damage to the parietal lobe of the brain.",NINDS,Dysgraphia +What are the treatments for Dysgraphia ?,Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting.,NINDS,Dysgraphia +What is the outlook for Dysgraphia ?,"Some individuals with dysgraphia improve their writing ability, but for others, the disorder persists.",NINDS,Dysgraphia +what research (or clinical trials) is being done for Dysgraphia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dysgraphia research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat, and ultimately, prevent dysgraphia.",NINDS,Dysgraphia +What is (are) Multiple System Atrophy ?,"Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements. The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.",NINDS,Multiple System Atrophy +What are the treatments for Multiple System Atrophy ?,"There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses.",NINDS,Multiple System Atrophy +What is the outlook for Multiple System Atrophy ?,"The disease tends to advance rapidly over the course of 5 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease. There is currently no cure.",NINDS,Multiple System Atrophy +what research (or clinical trials) is being done for Multiple System Atrophy ?,"The NINDS supports research about MSA through grants to major medical institutions across the country. Researchers hope to learn why alpha-synuclein buildup occurs in MSA and Parkinsons disease, and how to prevent it. Drugs that reduce the abnormal alpha-synuclein buildup may be promising treatments for MSA",NINDS,Multiple System Atrophy +What is (are) Inflammatory Myopathies ?,"The inflammatory myopathies are a group of diseases, with no known cause, that involve chronic muscle inflammation accompanied by muscle weakness. The three main types of chronic, or persistent, inflammatory myopathy are polymyositis, dermatomyositis, and inclusion body myositis (IBM). These rare disorders may affect both adults and children, although dermatomyositis is more common in children. Polymyositis and dermatomyositis are more common in women than in men. General symptoms of chronic inflammatory myopathy include slow but progressive muscle weakness that starts in the proximal musclesthose muscles closest to the trunk of the body. Other symptoms include fatigue after walking or standing, tripping or falling, and difficulty swallowing or breathing. Some patients may have slight muscle pain or muscles that are tender to the touch. Polymyositis affects skeletal muscles (involved with making movement) on both sides of the body. Dermatomyositis is characterized by a skin rash that precedes or accompanies progressive muscle weakness. IBM is characterized by progressive muscle weakness and wasting. Juvenile myositis has some similarities to adult dermatomyositis and polymyositis.",NINDS,Inflammatory Myopathies +What are the treatments for Inflammatory Myopathies ?,"The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.",NINDS,Inflammatory Myopathies +What is the outlook for Inflammatory Myopathies ?,"Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.",NINDS,Inflammatory Myopathies +what research (or clinical trials) is being done for Inflammatory Myopathies ?,"The National Institutes of Health (NIH), through the collaborative efforts of its National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Environmental Health Sciences (NIEHS), conducts and supports a wide range of research on neuromuscular disorders, including the inflammatory myopathies. The NINDS and NIAMS are funding DNA analyses using microarrays to characterize patterns of muscle gene expression among adult and juvenile individuals with distinct subtypes of inflammatory myopathies. Findings will be used to refine disease classification and provide clues to the pathology of these disorders. Other NIH-funded research is studying prior viral infection as a precursor to inflammatory myopathy. Other research hopes to determine whether the drug infliximab, which blocks a protein that is associated with harmful inflammation, is safe and effective in treating dermatomyositis and polymyositis.",NINDS,Inflammatory Myopathies +What is (are) Miller Fisher Syndrome ?,"Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barr syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barr syndrome, symptoms may be preceded by a viral illness. Additional symptoms include generalized muscle weakness and respiratory failure. The majority of individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.",NINDS,Miller Fisher Syndrome +What are the treatments for Miller Fisher Syndrome ?,Treatment for Miller Fisher syndrome is identical to treatment for Guillain-Barr syndrome: intravenous immunoglobulin (IVIg) or plasmapheresis (a procedure in which antibodies are removed from the blood) and supportive care.,NINDS,Miller Fisher Syndrome +What is the outlook for Miller Fisher Syndrome ?,"The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases).",NINDS,Miller Fisher Syndrome +what research (or clinical trials) is being done for Miller Fisher Syndrome ?,"The NINDS supports research aimed at discovering new ways to diagnose, treat, and, ultimately, cure neuropathies such as Miller Fisher syndrome.",NINDS,Miller Fisher Syndrome +What is (are) Dementia With Lewy Bodies ?,"Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, fluctuations in alertness and attention, visual hallucinations, and parkinsonian motor symptoms, such as slowness of movement, difficulty walking, or rigidity. People may also suffer from depression. The symptoms of DLB are caused by the build-up of Lewy bodies accumulated bits of alpha-synuclein protein -- inside the nuclei of neurons in areas of the brain that control particular aspects of memory and motor control. Researchers dont know exactly why alpha-synuclein accumulates into Lewy bodies or how Lewy bodies cause the symptoms of DLB, but they do know that alpha-synuclein accumulation is also linked to Parkinson's disease, multiple system atrophy, and several other disorders, which are referred to as the ""synucleinopathies."" The similarity of symptoms between DLB and Parkinsons disease, and between DLB and Alzheimers disease, can often make it difficult for a doctor to make a definitive diagnosis. In addition, Lewy bodies are often also found in the brains of people with Parkinson's and Alzheimers diseases. These findings suggest that either DLB is related to these other causes of dementia or that an individual can have both diseases at the same time. DLB usually occurs sporadically, in people with no known family history of the disease. However, rare familial cases have occasionally been reported.",NINDS,Dementia With Lewy Bodies +What are the treatments for Dementia With Lewy Bodies ?,"There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric and motor symptoms. Doctors tend to avoid prescribing antipsychotics for hallucinatory symptoms of DLB because of the risk that neuroleptic sensitivity could worsen the motor symptoms. Some individuals with DLB may benefit from the use of levodopa for their rigidity and loss of spontaneous movement.",NINDS,Dementia With Lewy Bodies +What is the outlook for Dementia With Lewy Bodies ?,"Like Alzheimers disease and Parkinsons disease, DLB is a neurodegenerative disorder that results in progressive intellectual and functional deterioration. There are no known therapies to stop or slow the progression of DLB. Average survival after the time of diagnosis is similar to that in Alzheimers disease, about 8 years, with progressively increasing disability.",NINDS,Dementia With Lewy Bodies +what research (or clinical trials) is being done for Dementia With Lewy Bodies ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searching for the genetic roots of DLB, exploring the molecular mechanisms of alpha-synuclein accumulation, and discovering how Lewy bodies cause the particular symptoms of DLB and the other synucleinopathies. The goal of NINDS research is to find better ways to prevent, treat, and ultimately cure disorders such as DLB.",NINDS,Dementia With Lewy Bodies +What is (are) Todd's Paralysis ?,"Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. Todd's paralysis may also affect speech and vision. Scientists don't know what causes Todd's paralysis. Current theories propose biological processes in the brain that involve a slow down in either the energy output of neurons or in the motor centers of the brain. It is important to distinguish Todd's paralysis from a stroke, which it can resemble, because a stroke requires completely different treatment.",NINDS,Todd's Paralysis +What are the treatments for Todd's Paralysis ?,There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.,NINDS,Todd's Paralysis +What is the outlook for Todd's Paralysis ?,Todd's paralysis is an indication that an individual has had an epileptic seizure. The outcome depends on the effects of the seizure and the subsequent treatment of the epilepsy.,NINDS,Todd's Paralysis +what research (or clinical trials) is being done for Todd's Paralysis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding successful methods to prevent Todd's paralysis in individuals with epilepsy.",NINDS,Todd's Paralysis +What is (are) Headache ?,"There are four types of headache: vascular, muscle contraction (tension), traction, and inflammatory. Vascular headaches include ""cluster headaches, which cause repeated episodes of intense pain, and headaches resulting from high blood pressure,and toxic headache produced by fever. Muscle contraction headaches appear to involve the tightening or tensing of facial and neck muscles. Traction and inflammatory headaches are symptoms of other disorders, ranging from stroke to sinus infection. Like other types of pain, headaches can serve as warning signals of more serious disorders. This is particularly true for headaches caused by inflammation, including those related to meningitis as well as those resulting from diseases of the sinuses, spine, neck, ears, and teeth. The most common type of primary headache (not caused by another medical condition) is migraine. Migraine headaches are usually characterized by severe pain on one or both sides of the head, an upset stomach, and, at times, disturbed vision. Women are more likely than men to have migraine headaches.",NINDS,Headache +What are the treatments for Headache ?,"When headaches occur three or more times a month, preventive treatment is usually recommended. Drug therapy, biofeedback training, stress reduction, and elimination of certain foods from the diet are the most common methods of preventing and controlling migraine and other vascular headaches. Regular exercise, such as swimming or vigorous walking, can also reduce the frequency and severity of migraine headaches. Drug therapy for migraine is often combined with biofeedback and relaxation training. One of the most commonly used drugs for the relief of migraine symptoms is sumatriptan. Drugs used to prevent migraine also include methysergide maleate, which counteracts blood vessel constriction; propranolol hydrochloride, which also reduces the frequency and severity of migraine headaches; ergotamine tartrate, a vasoconstrictor that helps counteract the painful dilation stage of the headache; amitriptyline, an antidepressant; valproic acid, an anticonvulsant; and verapamil, a calcium channel blocker.",NINDS,Headache +What is the outlook for Headache ?,"Not all headaches require medical attention. But some types of headache are signals of more serious disorders and call for prompt medical care. These include: sudden, severe headache or sudden headache associated with a stiff neck; headaches associated with fever, convulsions, or accompanied by confusion or loss of consciousness; headaches following a blow to the head, or associated with pain in the eye or ear; persistent headache in a person who was previously headache free; and recurring headache in children. Migraine headaches may last a day or more and can strike as often as several times a week or as rarely as once every few years.",NINDS,Headache +what research (or clinical trials) is being done for Headache ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to headaches at its laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. NINDS also supports and conducts studies to improve the diagnosis of headaches and to find ways to prevent them.",NINDS,Headache +What is (are) Landau-Kleffner Syndrome ?,"Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, childhood schizophrenia, or emotional/behavioral problems.",NINDS,Landau-Kleffner Syndrome +What are the treatments for Landau-Kleffner Syndrome ?,"Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. A controversial treatment option involves a surgical technique called multiple subpial transection in which the pathways of abnormal electrical brain activity are severed",NINDS,Landau-Kleffner Syndrome +What is the outlook for Landau-Kleffner Syndrome ?,"The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. The prognosis is improved when the onset of the disorder is after age 6 and when speech therapy is started early. Seizures generally disappear by adulthood.",NINDS,Landau-Kleffner Syndrome +what research (or clinical trials) is being done for Landau-Kleffner Syndrome ?,"The NINDS supports broad and varied programs of research on epilepsy and developmental disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat epilepsy and developmental disorders and, ultimately, to find cures for them.",NINDS,Landau-Kleffner Syndrome +What is (are) Central Cord Syndrome ?,"Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome is associated with damage to the large nerve fibers that carry information directly from the cerebral cortex to the spinal cord. These nerves are particularly important for hand and arm function. Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur, as well as painful sensations such as tinging, burning, or dull ache. The overall amount and type of functional loss is dependent upon the severity of nerve damage. Central cord syndrome is usually the result of trauma that causes damage to the vertebrae in the neck or herniation of the vertebral discs. It also may develop in persons over the age of 50 due to gradual weakening of the vertebrae and discs, which narrows the spinal column and may contribute to compression of the spinal cord when the neck is hyper-extended.",NINDS,Central Cord Syndrome +What are the treatments for Central Cord Syndrome ?,"There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration.",NINDS,Central Cord Syndrome +What is the outlook for Central Cord Syndrome ?,"The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. Those who receive medical intervention soon after their injury often have good outcomes. Many people with the disorder recover substantial function after their initial injury, and the ability to walk is recovered in most cases, although some impairment may remain. Improvement occurs first in the legs, then the bladder, and may be seen in the arms. Hand function recovers last, if at all. Recovery is generally better in younger patients, compared to those over the age of 50.",NINDS,Central Cord Syndrome +what research (or clinical trials) is being done for Central Cord Syndrome ?,"Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological Disorders and Stroke (NINDS). Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome.",NINDS,Central Cord Syndrome +What is (are) Fibromuscular Dysplasia ?,"Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic string of beads pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.",NINDS,Fibromuscular Dysplasia +What are the treatments for Fibromuscular Dysplasia ?,"There is no standard protocol to treat FMD. Any treatment to improve blood flow is based on the arteries affected and the progression and severity of the disease. The carotid arteries should be tested if FMD is found elsewhere in the body since carotid involvement is linked to an increased risk of stroke. Patients with minimal narrowing may take a daily antiplatelet such as an aspirin or an anticoagulant to thin the blood and reduce the chances that a clot might form. Medications such as aspirin can also be taken for headache and neck pain, symptoms that can come from FMD. Patients with arterial disease who smoke should be encouraged to quit as smoking worsens the disease. Further treatment may include angioplasty, in which a small balloon is inserted through a catheter and inflated to open the artery. Small tubes called stents may be inserted to keep arteries open. Surgery may be needed to treat aneurysms that have the potential to rupture and cause bleeding within the brain.",NINDS,Fibromuscular Dysplasia +What is the outlook for Fibromuscular Dysplasia ?,"Currently there is no cure for FMD. Medicines and angioplasty can reduce the risk of initial or recurrent stroke. In rare cases, FMD-related aneurysms can burst and bleed into the brain, causing stroke, permanent nerve damage, or death.",NINDS,Fibromuscular Dysplasia +what research (or clinical trials) is being done for Fibromuscular Dysplasia ?,"The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations primary funding source for research on the brain and nervous system. The NINDS conducts research on stroke and vascular lesions of the nervous system and supports studies through grants to medical institutions across the country.",NINDS,Fibromuscular Dysplasia +What is (are) Ataxia ?,"Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. + +Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. + +Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreichs ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. + +Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.",NINDS,Ataxia +What are the treatments for Ataxia ?,"There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.",NINDS,Ataxia +What is the outlook for Ataxia ?,The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.,NINDS,Ataxia +what research (or clinical trials) is being done for Ataxia ?,"The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment.",NINDS,Ataxia +What is (are) Periventricular Leukomalacia ?,"Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.",NINDS,Periventricular Leukomalacia +What are the treatments for Periventricular Leukomalacia ?,There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions.,NINDS,Periventricular Leukomalacia +What is the outlook for Periventricular Leukomalacia ?,"The prognosis for individuals with PVL depends upon the severity of the brain damage. Some children exhibit fairly mild symptoms, while others have significant deficits and disabilities.",NINDS,Periventricular Leukomalacia +what research (or clinical trials) is being done for Periventricular Leukomalacia ?,The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.,NINDS,Periventricular Leukomalacia +What is (are) Congenital Myopathy ?,"A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be ""floppy,"" have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. + +Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. + +There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. + +Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life. + +Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder. + +Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. + +Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder. + +Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements. + +Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems. + +Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.",NINDS,Congenital Myopathy +What are the treatments for Congenital Myopathy ?,"Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.",NINDS,Congenital Myopathy +What is the outlook for Congenital Myopathy ?,"When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.",NINDS,Congenital Myopathy +what research (or clinical trials) is being done for Congenital Myopathy ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the disorders that make up the congenital myopathies.",NINDS,Congenital Myopathy +What is (are) Zellweger Syndrome ?,"Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form). + +Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.",NINDS,Zellweger Syndrome +What are the treatments for Zellweger Syndrome ?,"There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive.",NINDS,Zellweger Syndrome +What is the outlook for Zellweger Syndrome ?,"The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure.",NINDS,Zellweger Syndrome +what research (or clinical trials) is being done for Zellweger Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.",NINDS,Zellweger Syndrome +What is (are) Parkinson's Disease ?,"Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.",NINDS,Parkinson's Disease +What are the treatments for Parkinson's Disease ?,"At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. Usually, affected individuals are given levodopa combined with carbidopa. Carbidopa delays the conversion of levodopa into dopamine until it reaches the brain. Nerve cells can use levodopa to make dopamine and replenish the brain's dwindling supply. Although levodopa helps at least three-quarters of parkinsonian cases, not all symptoms respond equally to the drug. Bradykinesia and rigidity respond best, while tremor may be only marginally reduced. Problems with balance and other symptoms may not be alleviated at all. Anticholinergics may help control tremor and rigidity. Other drugs, such as bromocriptine, pramipexole, and ropinirole, mimic the role of dopamine in the brain, causing the neurons to react as they would to dopamine. An antiviral drug, amantadine, also appears to reduce symptoms. In May 2006, the FDA approved rasagiline to be used along with levodopa for patients with advanced PD or as a single-drug treatment for early PD. + +In some cases, surgery may be appropriate if the disease doesn't respond to drugs. A therapy called deep brain stimulation (DBS) has now been approved by the U.S. Food and Drug Administration. In DBS, electrodes are implanted into the brain and connected to a small electrical device called a pulse generator that can be externally programmed. DBS can reduce the need for levodopa and related drugs, which in turn decreases the involuntary movements called dyskinesias that are a common side effect of levodopa. It also helps to alleviate fluctuations of symptoms and to reduce tremors, slowness of movements, and gait problems. DBS requires careful programming of the stimulator device in order to work correctly.",NINDS,Parkinson's Disease +What is the outlook for Parkinson's Disease ?,"PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complaint and other symptoms are more troublesome. It is currently not possible to predict which symptoms will affect an individual, and the intensity of the symptoms also varies from person to person.",NINDS,Parkinson's Disease +what research (or clinical trials) is being done for Parkinson's Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease. + +http://www.ninds.nih.gov/research/parkinsonsweb/index.htm",NINDS,Parkinson's Disease +What is (are) Bell's Palsy ?,"Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..",NINDS,Bell's Palsy +What are the treatments for Bell's Palsy ?,"Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. Because of possible drug interactions, individuals should always talk to their doctors before taking any over-the-counter medicines. Keeping the eye moist and protecting it from debris and injury, especially at night, is important. Lubricating eye drops can help. Other therapies such as physical therapy, facial massage or acupuncture may provide a potential small improvement in facial nerve function and pain..",NINDS,Bell's Palsy +What is the outlook for Bell's Palsy ?,"The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months.",NINDS,Bell's Palsy +what research (or clinical trials) is being done for Bell's Palsy ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports an extensive research program of basic science to increase understanding of how the nervous system works and circumstances that lead to nerve damage. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other NINDS-supported research is aimed at developing methods to repair damaged nerves and restore full use and strength to injured areas, and finding ways to prevent nerve damage and injuries from occurring.",NINDS,Bell's Palsy +What is (are) Whipple's Disease ?,"Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..",NINDS,Whipple's Disease +What are the treatments for Whipple's Disease ?,"The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. Relapsing neurologic Whipple's disease. (marked by bouts of worsening of symptoms) is sometimes treated with a combination of antibiotics and weekly injections of interfron gamma, a substance made by the body that activates the immune system.",NINDS,Whipple's Disease +What is the outlook for Whipple's Disease ?,"Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. Deficits may persist and relapses may still occur in individuals who receive appropriate treatment in a timely fashion. Prognosis may improve with earlier recognition, diagnosis, and treatment of the disorder.",NINDS,Whipple's Disease +what research (or clinical trials) is being done for Whipple's Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supportsa broad range of research on disorders that affect the central nervous system. The National Institute of Diabetes and Digestive and Kidney Diseases also supports research on disorders such as Whipple's disease. Much of this research is aimed at learning more about these disorders and finding ways to prevent, treat, and, ultimately, cure them.",NINDS,Whipple's Disease +What is (are) Hypotonia ?,"Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.",NINDS,Hypotonia +What are the treatments for Hypotonia ?,"Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia. Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs.",NINDS,Hypotonia +What is the outlook for Hypotonia ?,"Hypotonia can be a life-long condition. In some cases, however, muscle tone improves over time.",NINDS,Hypotonia +what research (or clinical trials) is being done for Hypotonia ?,"The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them.",NINDS,Hypotonia +What is (are) Myoclonus ?,"Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or ""sleep starts"" that some people experience while drifting off to sleep. These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles. Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures. Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. It can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders.",NINDS,Myoclonus +What are the treatments for Myoclonus ?,"Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Myoclonus may require the use of multiple drugs for effective treatment.",NINDS,Myoclonus +What is the outlook for Myoclonus ?,"Simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. In some cases, myoclonus begins in one region of the body and spreads to muscles in other areas. More severe cases of myoclonus can distort movement and severely limit a person's ability to eat, talk, or walk. These types of myoclonus may indicate an underlying disorder in the brain or nerves. Although clonazepam and sodium valproate are effective in the majority of people with myoclonus, some people have adverse reactions to these drugs. The beneficial effects of clonazepam may diminish over time if the individual develops a tolerance for the drug.",NINDS,Myoclonus +what research (or clinical trials) is being done for Myoclonus ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the underlying biochemical basis of involuntary movements and to find the most effective treatment for myoclonus and other movement disorders. Researchers may be able to develop drug treatments that target specific biochemical changes involved in myoclonus. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms.",NINDS,Myoclonus +What is (are) Aicardi-Goutieres Syndrome Disorder ?,"Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. + +Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. + +AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a ""spinal tap,"" can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. + +The mutations of four different genes are associated with AGS: + +- Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene. + +Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. + +NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).",NINDS,Aicardi-Goutieres Syndrome Disorder +What are the treatments for Aicardi-Goutieres Syndrome Disorder ?,"Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.",NINDS,Aicardi-Goutieres Syndrome Disorder +What is the outlook for Aicardi-Goutieres Syndrome Disorder ?,"The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. Almost all children with AGS have mild to severe intellectual and physical impairment.",NINDS,Aicardi-Goutieres Syndrome Disorder +what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS.,NINDS,Aicardi-Goutieres Syndrome Disorder +What is (are) Encephaloceles ?,"Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.",NINDS,Encephaloceles +What are the treatments for Encephaloceles ?,"Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive.",NINDS,Encephaloceles +What is the outlook for Encephaloceles ?,"The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.",NINDS,Encephaloceles +what research (or clinical trials) is being done for Encephaloceles ?,The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.,NINDS,Encephaloceles +What is (are) Absence of the Septum Pellucidum ?,"The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. Children who are born without this membrane and also have other abnormalities--pituitary deficiencies and abnormal development of the optic disk--have a disorder known as septo-optic dysplasia. More information about this condition can be located at the NINDS Septo-Optic Dysplasia Information Page.",NINDS,Absence of the Septum Pellucidum +What are the treatments for Absence of the Septum Pellucidum ?,Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.,NINDS,Absence of the Septum Pellucidum +What is the outlook for Absence of the Septum Pellucidum ?,"When the absence of the septum pellucidum is part of septo-optic dysplasia, the prognosis varies according to the presence and severity of associated symptoms. By itself, absence of the septum pellucidum is not life-threatening.",NINDS,Absence of the Septum Pellucidum +what research (or clinical trials) is being done for Absence of the Septum Pellucidum ?,The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system ad to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent developmental brain disorders.,NINDS,Absence of the Septum Pellucidum +What is (are) Schilder's Disease ?,"Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. The disorder is a variant of multiple sclerosis.",NINDS,Schilder's Disease +What are the treatments for Schilder's Disease ?,"Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.",NINDS,Schilder's Disease +What is the outlook for Schilder's Disease ?,"As with multiple sclerosis, the course and prognosis of Schilder's disease are unpredictable. For some individuals the disorder is progressive with a steady, unremitting course. Others may experience significant improvement and even remission. In some cases, Schilder's disease is fatal.",NINDS,Schilder's Disease +what research (or clinical trials) is being done for Schilder's Disease ?,"The NINDS supports and conducts an extensive research program on demyelinating disorders such as Schilder's disease. Much of this research focuses on learning more about these disorders and finding ways to prevent, treat, and cure them.",NINDS,Schilder's Disease +What is (are) Schizencephaly ?,"Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.",NINDS,Schizencephaly +What are the treatments for Schizencephaly ?,"Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.",NINDS,Schizencephaly +What is the outlook for Schizencephaly ?,The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities.,NINDS,Schizencephaly +what research (or clinical trials) is being done for Schizencephaly ?,The NINDS conducts and supports a wide range of studies that explore the mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how to prevent or treat developmental brain defects such as schizencephaly.,NINDS,Schizencephaly +What is (are) Pinched Nerve ?,"The term ""pinched nerve"" is a colloquial term and not a true medical term. It is used to describe one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, ""pins and needles"" or burning sensations, and pain radiating outward from the injured area. One of the most common examples of a single compressed nerve is the feeling of having a foot or hand ""fall asleep."" A ""pinched nerve"" frequently is associated with pain in the neck or lower back. This type of pain can be caused by inflammation or pressure on the nerve root as it exits the spine. If the pain is severe or lasts a long time, you may need to have further evaluation from your physician. Several problems can lead to similar symptoms of numbness, pain, and tingling in the hands or feet but without pain in the neck or back. These can include peripheral neuropathy, carpal tunnel syndrome, and tennis elbow. The extent of such injuries may vary from minor, temporary damage to a more permanent condition. Early diagnosis is important to prevent further damage or complications. Pinched nerve is a common cause of on-the-job injury.",NINDS,Pinched Nerve +What are the treatments for Pinched Nerve ?,"The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. Depending on the cause and severity of the pinched nerve, surgery may be needed.",NINDS,Pinched Nerve +What is the outlook for Pinched Nerve ?,"With treatment, most people recover from pinched nerve. However, in some cases, the damage is irreversible.",NINDS,Pinched Nerve +what research (or clinical trials) is being done for Pinched Nerve ?,"Within the NINDS research programs, pinched nerves are addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as pinched nerves.",NINDS,Pinched Nerve +What is (are) Leukodystrophy ?,"Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.",NINDS,Leukodystrophy +What are the treatments for Leukodystrophy ?,"Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies.",NINDS,Leukodystrophy +What is the outlook for Leukodystrophy ?,The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.,NINDS,Leukodystrophy +what research (or clinical trials) is being done for Leukodystrophy ?,"The NINDS supports research on genetic disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.",NINDS,Leukodystrophy +What is (are) Huntington's Disease ?,"Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas. Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. People with HD also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. HD typically begins between ages 30 and 50. An earlier onset form called juvenile HD, occurs under age 20. Symptoms of juvenile HD differ somewhat from adult onset HD and include unsteadiness, rigidity, difficulty at school, and seizures. More than 30,000 Americans have HD. Huntingtons disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal. Each child of a parent with HD has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and generally cannot pass it to subsequent generations. There is a small risk that someone who has a parent with the mutated gene but who did not inherit the HD gene may pass a possibly harmful genetic sequence to her/his children. A person who inherits the HD gene will eventually develop the disease. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD.",NINDS,Huntington's Disease +What are the treatments for Huntington's Disease ?,"There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. Drugs may be prescribed to treat depression and anxiety. Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual.",NINDS,Huntington's Disease +What is the outlook for Huntington's Disease ?,"Huntingtons disease causes disability that gets worse over time. People with this disease usually die within 15 to 20 years following diagnosis. At this time, no treatment is available to slow, stop or reverse the course of HD.",NINDS,Huntington's Disease +what research (or clinical trials) is being done for Huntington's Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. A major focus of research on HD is to understand the toxicity of mutant huntingin protein to brain cells and to develop potential drugs for counteracting it. Animal models of the disorder allow scientists to study mechanisms of the disease and to move forward with strategies most likely to work and least likely to cause harm for individuals. The HD gene discovery is allowing scientists to recruit individuals who carry the HD gene into clinical studies early before they become ill. Researchers hope to understand how the defective gene affects various structures in the brain and the body's chemistry and metabolism. Since some of the clinical symptoms in neurodegenerative diseases may be caused by the ultimate malfunctioning of neuronal circuits rather than by the loss of individual cells, scientists are using cutting-edge methods such as optogenetics (where neurons are activated or silenced in the brains of living animals using light beams) to probe the cause and progression of such circuit defects in HD. Scientists are also using stem cells to study disease mechanisms and test potential therapeutic drugs. + +The NINDS-funded PREDICT-HD study seeks to identify biomarkers (biological changes that can be used to predict, diagnose, or monitor a disease) for HD. One goal of PREDICT-HD is to determine if the progression of the disease correlates with changes in brain scans images, or with chemical changes in blood, urine, or cerebrospinal fluid. A large and related NINDS-supported study aims to identify additional genetic factors in people that influence the course of the disease. Since individuals with the same CAG expansions can differ widely in the age of disease onset and severity of symptoms, researchers are trying to identify variations in the genomes of individuals with HD that account for those differences in the hopes that they will point to new targets for disease intervention and therapy.",NINDS,Huntington's Disease +What is (are) Dravet Syndrome ?,"Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus a state of continuous seizure requiring emergency medical care also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others. + +In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.",NINDS,Dravet Syndrome +What are the treatments for Dravet Syndrome ?,"Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial.",NINDS,Dravet Syndrome +What is the outlook for Dravet Syndrome ?,"As children with Dravet syndrome get older, their decline in cognitive function stabilizes, and in many, it improves slightly. However, most teenagers with Dravet syndrome are dependent on caregivers. The degree of cognitive impairment appears to correlate with the frequency of seizures.",NINDS,Dravet Syndrome +what research (or clinical trials) is being done for Dravet Syndrome ?,"The NINDS conducts and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related disorders is expected to lead to the development of effective drug therapies.",NINDS,Dravet Syndrome +What is (are) Encephalopathy ?,"Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.",NINDS,Encephalopathy +What are the treatments for Encephalopathy ?,"Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. In severe cases, dialysis or organ replacement surgery may be needed.",NINDS,Encephalopathy +What is the outlook for Encephalopathy ?,"Treating the underlying cause of the disorder may improve symptoms. However, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. Some encephalopathies can be fatal.",NINDS,Encephalopathy +what research (or clinical trials) is being done for Encephalopathy ?,"The NINDS supports and conducts research on brain diseases. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.",NINDS,Encephalopathy +What is (are) Tremor ?,"Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, voice, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder or a side effect of certain drugs, but the most common form occurs in otherwise healthy people. Some forms of tremor are inherited and run in families, while others have no known cause. Excessive alcohol consumption or alcohol withdrawal can kill certain nerve cells, resulting in tremor, especially in the hand. Other causes include an overactive thyroid and the use of certain drugs. Tremor may occur at any age but is most common in middle-aged and older persons. + +There are several forms of tremor, including: + +Essential tremor (sometimes called benign essential tremor) is the most common form of abnormal tremor.The hands are most often affected but the head, voice, tongue, legs, and trunk may also be involved. Head tremor may be seen as a ""yes-yes"" or ""no-no"" motion. Onset is most common after age 40, although symptoms can appear at any age. Parkinsonian tremor is caused by damage to structures within the brain that control movement. The tremor is classically seen as a ""pill-rolling"" action of the hands but may also affect the chin, lips, legs, and trunk. Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained involuntary muscle contractions cause twisting motions or painful postures or positions.",NINDS,Tremor +What are the treatments for Tremor ?,"There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pramipexole and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. Dystonic tremor may respond to clonazepam, anticholinergic drugs, and intramuscular injections of botulinum toxin. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Surgical intervention, such as thalamotomy and deep brain stimulation, are usually performed only when the tremor is severe and does not respond to drugs.",NINDS,Tremor +What is the outlook for Tremor ?,"Although tremor is not life-threatening, it can be embarrassing to some people and make it harder to perform daily tasks.",NINDS,Tremor +what research (or clinical trials) is being done for Tremor ?,"The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. Scientists are evaluating the effectiveness of certain drugs and searching for genes that can cause certain forms of tremor.",NINDS,Tremor +What is (are) Alternating Hemiplegia ?,"Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or ""dance-like"" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Most children do not have a family history of the disorder; however, recent studies have show that some children with a family history have mutations in the genes CACNA1A, SCN1A, and ATP1A2. Mutations in the ATP1A2 gene have previously been associated with families affect by familial hemiplegic migraine.",NINDS,Alternating Hemiplegia +What are the treatments for Alternating Hemiplegia ?,Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia,NINDS,Alternating Hemiplegia +What is the outlook for Alternating Hemiplegia ?,"Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible.",NINDS,Alternating Hemiplegia +what research (or clinical trials) is being done for Alternating Hemiplegia ?,"The NINDS supports research on paralytic disorders such as alternating hemiplegia, with the goals of learning more about these disorders and finding ways to prevent, treat and, ultimately cure them.",NINDS,Alternating Hemiplegia +What is (are) Kuru ?,"Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. Brain tissue from individuals with kuru was highly infectious, and the disease was transmitted either through eating or by contact with open sores or wounds. Government discouragement of the practice of cannibalism led to a continuing decline in the disease, which has now mostly disappeared. + +Kuru belongs to a class of infectious diseases called transmissible spongiform encephalopathies (TSEs), also known as prion diseases. The hallmark of a TSE disease is misshapen protein molecules that clump together and accumulate in brain tissue. Scientists believe that misshapen prion proteins have the ability to change their shape and cause other proteins of the same type to also change shape. Other TSEs include Creutzfeldt-Jakob disease and fatal familial insomnia in humans, bovine spongiform encephalopathy in cattle (also known as mad cow disease), scrapie in sheep and goats, and chronic wasting disease in deer and elk.",NINDS,Kuru +What are the treatments for Kuru ?,"There were no treatments that could control or cure kuru, other than discouraging the practice of cannibalism. Currently, there are no cures or treatments for any of the other TSE diseases.",NINDS,Kuru +What is the outlook for Kuru ?,"Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. (Kuru is the Fore word for shiver.) Unlike most of the other TSEs, dementia was either minimal or absent. Mood changes were often present. Eventually, individuals became unable to stand or eat, and they died in a comatose state from 6 to 12 months after the first appearance of symptoms.",NINDS,Kuru +what research (or clinical trials) is being done for Kuru ?,"The NINDS funds research to better understand the genetic, molecular, and cellular mechanisms that underlie the TSE diseases. Findings from this research will lead to ways to diagnose, treat, prevent, and ultimately cure these diseases.",NINDS,Kuru +What is (are) Tabes Dorsalis ?,"Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light. The disease is more frequent in males than in females. Onset is commonly during mid-life. The incidence of tabes dorsalis is rising, in part due to co-associated HIV infection.",NINDS,Tabes Dorsalis +What are the treatments for Tabes Dorsalis ?,"Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important.",NINDS,Tabes Dorsalis +What is the outlook for Tabes Dorsalis ?,"If left untreated, tabes dorsalis can lead to paralysis, dementia, and blindness. Existing nerve damage cannot be reversed.",NINDS,Tabes Dorsalis +what research (or clinical trials) is being done for Tabes Dorsalis ?,"The NINDS supports and conducts research on neurodegenerative disorders, such as tabes dorsalis, in an effort to find ways to prevent, treat, and, ultimately, cure these disorders.",NINDS,Tabes Dorsalis +What is (are) Alexander Disease ?,"Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinsons disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.",NINDS,Alexander Disease +What are the treatments for Alexander Disease ?,"There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.",NINDS,Alexander Disease +What is the outlook for Alexander Disease ?,"The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course.",NINDS,Alexander Disease +what research (or clinical trials) is being done for Alexander Disease ?,"Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this genecauses the disease. In most cases mutations occur spontaneously are not inherited from parents.A small number of people thought to have Alexander disease do not have identifiable mutations in GFAP, which leads researchers to believe that there may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies for treatment. At present, there is no exact animal model for the disease; however, mice have been engineered to produce the same mutant forms of GFAP found in individuals with Alexander disease. These mice form Rosenthal fibers and have a predisposition for seizures, but do not yet mimic all features of human disease (such as the leukodystrophies). One clinical study is underway to identify biomarkers of disease severity or progression in samples of blood or cerebrospinal fluid. Such biomarkers, if found, would be a major advantage for evaluating the response to any treatments that are developed in the future.",NINDS,Alexander Disease +What is (are) Ohtahara Syndrome ?,"Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. Doctors have observed that boys are more often affected than girls.",NINDS,Ohtahara Syndrome +What are the treatments for Ohtahara Syndrome ?,"Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are symptomatic and supportive.",NINDS,Ohtahara Syndrome +What is the outlook for Ohtahara Syndrome ?,"The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by delays in physical and cognitive development.Some children will die in infancy; others will survive but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.",NINDS,Ohtahara Syndrome +what research (or clinical trials) is being done for Ohtahara Syndrome ?,"The NINDS conducts and supports an extensive research program on seizures and seizure-related disorders. Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them.",NINDS,Ohtahara Syndrome +What is (are) Lissencephaly ?,"Lissencephaly, which literally means ""smooth brain,"" is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.",NINDS,Lissencephaly +What are the treatments for Lissencephaly ?,"There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.",NINDS,Lissencephaly +What is the outlook for Lissencephaly ?,"The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists in lissencephaly and support from family groups with connection to these specialists.",NINDS,Lissencephaly +what research (or clinical trials) is being done for Lissencephaly ?,"The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders.",NINDS,Lissencephaly +What is (are) CADASIL ?,"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. CADASIL is characterized by migraine headaches and multiple strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL formerly known by several names, including hereditary multi-infarct dementia is one cause of vascular cognitive impairment (dementia caused by lack of blood to several areas of the brain). It is an autosomal dominant inheritance disorder, meaning that one parent carries and passes on the defective gene. Most individuals with CADASIL have a family history of the disorder. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.",NINDS,CADASIL +What are the treatments for CADASIL ?,"There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. Other stroke risk factors such as hypertension, hyperlipidemia, diabetes, blood clotting disorders and obstructive sleep apnea also should be aggressively treated..",NINDS,CADASIL +What is the outlook for CADASIL ?,"Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have cognitive problems and dementia. Some will become dependent due to multiple strokes.",NINDS,CADASIL +what research (or clinical trials) is being done for CADASIL ?,The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH) and through grants to major medical institutions across the country. Scientists are currently studying different drugs to reduce cognitive problems seen in patients with CADASIL. Researchers are also looking at ways to overcome an over-reaction to hormones that lead to high blood pressure and poor blood supply in patients with CADASIL.,NINDS,CADASIL +What is (are) Empty Sella Syndrome ?,"Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence).There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means ""false brain tumor,"" brought on by high pressure within the skull), In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.",NINDS,Empty Sella Syndrome +What are the treatments for Empty Sella Syndrome ?,"Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed.",NINDS,Empty Sella Syndrome +What is the outlook for Empty Sella Syndrome ?,"ESS is not a life-threatening condition. Most often, and particularly among those with primary ESS, the disorder does not cause health problems and does not affect life expectancy.",NINDS,Empty Sella Syndrome +what research (or clinical trials) is being done for Empty Sella Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS supports and conducts fundamental studies that explore the complex mechanisms of normal brain development and to better understand neurological conditions such as ESS. The knowledge gained from these fundamental studies helps researchers understand neurodevelopment and provides opportunities to more effectively treat and perhaps even prevent, such disorders.",NINDS,Empty Sella Syndrome +What is (are) Primary Lateral Sclerosis ?,"Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful. The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing). Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause. The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS..",NINDS,Primary Lateral Sclerosis +What are the treatments for Primary Lateral Sclerosis ?,"Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. Assistive devices such as supports or braces, speech synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with involvement of the facial muscles.",NINDS,Primary Lateral Sclerosis +What is the outlook for Primary Lateral Sclerosis ?,"PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.",NINDS,Primary Lateral Sclerosis +what research (or clinical trials) is being done for Primary Lateral Sclerosis ?,"The NINDS conducts a broad range of research on neuromuscular disorders such as PLS. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure these devastating diseases.",NINDS,Primary Lateral Sclerosis +What is (are) Lipoid Proteinosis ?,"Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords. Skin lesions appear sometime in the next 3 years, leaving acne- or pox-like scars on the face, hands, and mucous membranes. The most characteristic symptom of LP is waxy, yellow, bead-like bumps along the upper and lower edges of the eyelids. Brain damage develops over time and is associated with the development of cognitive abilities and epileptic seizures. Damage to the amygdala, a part of the brain that regulates emotions and perceptions, leads to difficulties in discriminating facial expressions and in making realistic judgments about the trustworthiness of other people. LP is a hereditary disease that equally affects males and females. Nearly a quarter of all reported cases have been in the Afrikaner population of South Africa, but the disease is increasingly being reported from other parts of the world including India. The gene responsible for LP has recently been identified. It performs an unknown function in the skin related to the production of collagen.",NINDS,Lipoid Proteinosis +What are the treatments for Lipoid Proteinosis ?,"There is no cure for LP. Some doctors have had success treating the skin eruptions with oral steroid drugs and oral dimethyl sulphoxide (DMSO). Carbon dioxide laser surgery of thickened vocal cords and eyelid bumps has proved helpful in some studies. Dermabrasion may improve the appearance of the skin lesions. Seizures, if present, may be treated with anticonvulsants.",NINDS,Lipoid Proteinosis +What is the outlook for Lipoid Proteinosis ?,"Lipoid proteinosis has a stable or slowly progressive course. Children with LP may have behavioral or learning difficulties, along with seizures. Obstruction in the throat may require a tracheostomy. Mortality rates in infants and adults are slightly increased because of problems with throat obstructions and upper respiratory tract infections.",NINDS,Lipoid Proteinosis +what research (or clinical trials) is being done for Lipoid Proteinosis ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as lipoid proteinosis.",NINDS,Lipoid Proteinosis +What is (are) Parry-Romberg ?,"Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.",NINDS,Parry-Romberg +What are the treatments for Parry-Romberg ?,There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.,NINDS,Parry-Romberg +What is the outlook for Parry-Romberg ?,"The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.",NINDS,Parry-Romberg +what research (or clinical trials) is being done for Parry-Romberg ?,"The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.",NINDS,Parry-Romberg +What is (are) Adrenoleukodystrophy ?,"X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.",NINDS,Adrenoleukodystrophy +What are the treatments for Adrenoleukodystrophy ?,"Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as ""Lorenzo's Oil,"" administered to boys with X-ALD prior to symptom onset can prevent or delay the appearance of the childhood cerebral form It is not known whether Lorenzo's Oil will have any beneficial effects in AMN. Furthermore, Lorenzo's Oil has no beneficial effect in symptomatic boys with X-ALD. Bone marrow transplantations can provide long-term benefit to boys who have early evidence of the childhood cerebral form of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms.",NINDS,Adrenoleukodystrophy +What is the outlook for Adrenoleukodystrophy ?,Prognosis for patients with childhood cerebral X-ALD is generally poor due to progressive neurological deterioration unless bone marrow transplantation is performed early. Death usually occurs within 1 to 10 years after the onset of symptoms. Adult-onset AMN will progress over decades.,NINDS,Adrenoleukodystrophy +what research (or clinical trials) is being done for Adrenoleukodystrophy ?,"The NINDS supports research on genetic disorders such as ALD. The aim of this research is to find ways to prevent, treat, and cure these disorders. Studies are currently underway to identify new biomarkers of disease progression and to determine which patients will develop the childhood cerebral form of X-ALD. A recent case study in Europe demonstrated that the combination of gene therapy with bone marrow transplantation, using the patient's own bone marrow cells, may arrest disease progression in childhood cerebral X-ALD. A therapeutic trail in the United States is currently being discussed with the U.S. Food and Drug Administration.",NINDS,Adrenoleukodystrophy +What is (are) Aphasia ?,"Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing. It may occur suddenly or progressively, depending on the type and location of brain tissue involved. Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Although it is primarily seen in individuals who have suffered a stroke, aphasia can also result from a brain tumor, infection, inflammation, head injury, or dementia that affect language-associated regions of the brain. It is estimated that about 1 million people in the United States today suffer from aphasia. The type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue. + +Generally, aphasia can be divided into four broad categories: (1) Expressive aphasia (also called Broca's aphasia) involves difficulty in conveying thoughts through speech or writing. The person knows what she/he wants to say, but cannot find the words he needs. (2) Receptive aphasia (Wernicke's aphasia) involves difficulty understanding spoken or written language. The individual hears the voice or sees the print but cannot make sense of the words. (3) Global aphasia results from severe and extensive damage to the language areas of the brain. People lose almost all language function, both comprehension and expression. They cannot speak or understand speech, nor can they read or write. (4) Indiivfduals with anomic or amnesia aphasia, the least severe form of aphasia, have difficulty in using the correct names for particular objects, people, places, or events.",NINDS,Aphasia +What are the treatments for Aphasia ?,"In some instances, an individual will completely recover from aphasia without treatment. In most cases, however, language therapy should begin as soon as possible and be tailored to the individual needs of the person. Rehabilitation with a speech pathologist involves extensive exercises in which individuals read, write, follow directions, and repeat what they hear. Computer-aided therapy may supplement standard language therapy.",NINDS,Aphasia +What is the outlook for Aphasia ?,"The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language comprehension more completely than those skills involving expression.",NINDS,Aphasia +what research (or clinical trials) is being done for Aphasia ?,"The National Institute of Neurological Disorders and Stroke and the National Institute on Deafness and Other Communication Disorders conduct and support a broad range of scientific investigations to increase our understanding of aphasia, find better treatments, and discover improved methods to restore lost function to people who have aphasia.",NINDS,Aphasia +What is (are) Dermatomyositis ?,"Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Dermatomyositis cardinal symptom is a skin rash that precedes, accompanies, or follows progressive muscle weakness. The rash looks patchy, with purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, knees, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss, a low-grade fever, inflamed lungs, and be sensitive to light such that the rash or muscle disease gets worse. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs 1-3 years after the disease begins. These deposits are seen more often in children with dermatomyositis than in adults. In some cases of dermatomyositis, distal muscles (muscles located away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Dermatomyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus.",NINDS,Dermatomyositis +What are the treatments for Dermatomyositis ?,"There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.",NINDS,Dermatomyositis +What is the outlook for Dermatomyositis ?,Most cases of dermatomyositis respond to therapy. The disease is usually more severe and resistant to therapy in individuals with cardiac or pulmonary problems.,NINDS,Dermatomyositis +what research (or clinical trials) is being done for Dermatomyositis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to dermatomyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",NINDS,Dermatomyositis +What is (are) Coffin Lowry Syndrome ?,"Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.",NINDS,Coffin Lowry Syndrome +What are the treatments for Coffin Lowry Syndrome ?,"There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.",NINDS,Coffin Lowry Syndrome +What is the outlook for Coffin Lowry Syndrome ?,The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.,NINDS,Coffin Lowry Syndrome +what research (or clinical trials) is being done for Coffin Lowry Syndrome ?,"The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders.",NINDS,Coffin Lowry Syndrome +What is (are) Multi-Infarct Dementia ?,"Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain). Disruption of blood flow leads to damaged brain tissue. Some of these strokes may occur without noticeable clinical symptoms. Doctors refer to these as silent strokes. An individual having asilent stroke may not even know it is happening, but over time, as more areas of the brain are damaged and more small blood vessels are blocked, the symptoms of MID begin to appear. MID can be diagnosed by an MRI or CT of the brain, along with a neurological examination. Symptoms include confusion or problems with short-term memory; wandering, or getting lost in familiar places; walking with rapid, shuffling steps; losing bladder or bowel control; laughing or crying inappropriately; having difficulty following instructions; and having problems counting money and making monetary transactions. MID, which typically begins between the ages of 60 and 75, affects men more often than women. Because the symptoms of MID are so similar to Alzheimers disease, it can be difficult for a doctor to make a firm diagnosis. Since the diseases often occur together, making a single diagnosis of one or the other is even more problematic.",NINDS,Multi-Infarct Dementia +What are the treatments for Multi-Infarct Dementia ?,"There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. The best treatment for MID is prevention early in life eating a healthy diet, exercising, not smoking, moderately using alcohol, and maintaining a healthy weight.",NINDS,Multi-Infarct Dementia +What is the outlook for Multi-Infarct Dementia ?,"The prognosis for individuals with MID is generally poor. The symptoms of the disorder may begin suddenly, often in a step-wise pattern after each small stroke. Some people with MID may even appear to improve for short periods of time, then decline after having more silent strokes. The disorder generally takes a downward course with intermittent periods of rapid deterioration. Death may occur from stroke, heart disease, pneumonia, or other infection.",NINDS,Multi-Infarct Dementia +what research (or clinical trials) is being done for Multi-Infarct Dementia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to MID in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the vascular dementias, such as MID.",NINDS,Multi-Infarct Dementia +What is (are) Sandhoff Disease ?,"Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle. Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.",NINDS,Sandhoff Disease +What are the treatments for Sandhoff Disease ?,There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.,NINDS,Sandhoff Disease +What is the outlook for Sandhoff Disease ?,The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections.,NINDS,Sandhoff Disease +what research (or clinical trials) is being done for Sandhoff Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world. The NINDS, along with other NIH Institutes, supports the Lysosomal Disease Network, a network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Research funded by the NINDS focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS funded research on the gangliosidoses includes variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.",NINDS,Sandhoff Disease +What is (are) Moebius Syndrome ?,"Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism. + +There are four recognized categories of Moebius syndrome: + +- Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; - Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; - Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, - Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.",NINDS,Moebius Syndrome +What are the treatments for Moebius Syndrome ?,"There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.",NINDS,Moebius Syndrome +What is the outlook for Moebius Syndrome ?,"There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy.",NINDS,Moebius Syndrome +what research (or clinical trials) is being done for Moebius Syndrome ?,"The NINDS conducts and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these studies are to develop improved techniques to diagnose, treat, and eventually cure these disorders.",NINDS,Moebius Syndrome +What is (are) Stroke ?,"A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic - blockage of a blood vessel supplying the brain, and hemorrhagic - bleeding into or around the brain.",NINDS,Stroke +What are the treatments for Stroke ?,"Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics.",NINDS,Stroke +What is the outlook for Stroke ?,"Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures. + +Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years.",NINDS,Stroke +what research (or clinical trials) is being done for Stroke ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke.",NINDS,Stroke +What is (are) Porencephaly ?,"Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches his or her first birthday. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment.",NINDS,Porencephaly +What are the treatments for Porencephaly ?,"Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain.",NINDS,Porencephaly +What is the outlook for Porencephaly ?,"The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life.",NINDS,Porencephaly +what research (or clinical trials) is being done for Porencephaly ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders.,NINDS,Porencephaly +What is (are) Megalencephaly ?,"Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesnt necessarily indicate abnormality. Large head size is passed down through the generations in some families.",NINDS,Megalencephaly +What are the treatments for Megalencephaly ?,There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities.,NINDS,Megalencephaly +What is the outlook for Megalencephaly ?,The prognosis for infants and children with megalencephaly depends upon the underlying cause and the associated neurological disorders. The prognosis for children with hemimegalencephaly is poor.,NINDS,Megalencephaly +what research (or clinical trials) is being done for Megalencephaly ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders.,NINDS,Megalencephaly +What is (are) Hydromyelia ?,"Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. Hydromyelia is sometimes used interchangeably with syringomyelia, the name for a condition that also involves cavitation in the spinal cord. In hydromyelia, the cavity that forms is connected to the fourth ventricle in the brain, and is almost always associated in infants and children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, features a closed cavity and occurs primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord trauma. Symptoms, which may occur over time, include weakness of the hands and arms, stiffness in the legs; and sensory loss in the neck and arms. Some individuals have severe pain in the neck and arms. Diagnosis is made by magnetic resonance imaging (MRI), which reveals abnormalities in the anatomy of the spinal cord..",NINDS,Hydromyelia +What are the treatments for Hydromyelia ?,"Generally, physicians recommend surgery for children with hydromyelia if they have moderate or severe neurological deficits. Surgical treatment re-establishes the normal flow of spinal fluid.",NINDS,Hydromyelia +What is the outlook for Hydromyelia ?,"Surgery may permanently or temporarily relieve symptoms, but it can also cause a number of severe complications. In rare cases, hydromyelia may resolve on its own without any medical intervention.",NINDS,Hydromyelia +what research (or clinical trials) is being done for Hydromyelia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure abnormalities of the spinal cord such as hydromyelia.",NINDS,Hydromyelia +What is (are) Joubert Syndrome ?,"Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290.",NINDS,Joubert Syndrome +What are the treatments for Joubert Syndrome ?,"Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.",NINDS,Joubert Syndrome +What is the outlook for Joubert Syndrome ?,"The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement, such as the kidneys and liver. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability, moderate impaired mental development, and multi-organ impairments.",NINDS,Joubert Syndrome +what research (or clinical trials) is being done for Joubert Syndrome ?,"The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.",NINDS,Joubert Syndrome +What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,"Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves. + +A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness + +Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke.",NINDS,Vasculitis Syndromes of the Central and Peripheral Nervous Systems +What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,"Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. Aneurysms involved with vasculitis can be treated surgfically.",NINDS,Vasculitis Syndromes of the Central and Peripheral Nervous Systems +What is the outlook for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,"The prognosis is dependent upon the specific syndrome, however, some of the syndromes are fatal if left untreated.",NINDS,Vasculitis Syndromes of the Central and Peripheral Nervous Systems +what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.",NINDS,Vasculitis Syndromes of the Central and Peripheral Nervous Systems +What is (are) Repetitive Motion Disorders ?,"Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue. RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body -- such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue. Generally, RMDs affect individuals who perform repetitive tasks such as assembly line work, meatpacking, sewing, playing musical instruments, and computer work. The disorders may also affect individuals who engage in activities such as carpentry, gardening, and tennis.",NINDS,Repetitive Motion Disorders +What are the treatments for Repetitive Motion Disorders ?,"Treatment for RMDs usually includes reducing or stopping the motions that cause symptoms. Options include taking breaks to give the affected area time to rest, and adopting stretching and relaxation exercises. Applying ice to the affected area and using medications such as pain relievers, cortisone, and anti-inflammatory drugs can reduce pain and swelling. Splints may be able to relieve pressure on the muscles and nerves. Physical therapy may relieve the soreness and pain in the muscles and joints. In rare cases, surgery may be required to relieve symptoms and prevent permanent damage. Some employers have developed ergonomic programs to help workers adjust their pace of work and arrange office equipment to minimize problems.",NINDS,Repetitive Motion Disorders +What is the outlook for Repetitive Motion Disorders ?,"Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area.",NINDS,Repetitive Motion Disorders +what research (or clinical trials) is being done for Repetitive Motion Disorders ?,Much of the on-going research on RMDs is aimed at prevention and rehabilitation. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) funds research on RMDs.,NINDS,Repetitive Motion Disorders +What is (are) Stiff-Person Syndrome ?,"Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists dont yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinsons disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.",NINDS,Stiff-Person Syndrome +What are the treatments for Stiff-Person Syndrome ?,"People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.",NINDS,Stiff-Person Syndrome +What is the outlook for Stiff-Person Syndrome ?,"Treatment with IVIg, anti-anxiety drugs, muscle relaxants, anti-convulsants, and pain relievers will improve the symptoms of SPS, but will not cure the disorder. Most individuals with SPS have frequent falls and because they lack the normal defensive reflexes; injuries can be severe. With appropriate treatment, the symptoms are usually well controlled.",NINDS,Stiff-Person Syndrome +what research (or clinical trials) is being done for Stiff-Person Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to SPS in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. A study using the drug rituximab proved ineffective in treating individuals with the disorder. Current research is focused on understanding the cause of the disease and the role of the anti-GAD antibodies.",NINDS,Stiff-Person Syndrome +What is (are) Lennox-Gastaut Syndrome ?,"Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.",NINDS,Lennox-Gastaut Syndrome +What are the treatments for Lennox-Gastaut Syndrome ?,"Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.",NINDS,Lennox-Gastaut Syndrome +What is the outlook for Lennox-Gastaut Syndrome ?,"The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very unusual.",NINDS,Lennox-Gastaut Syndrome +what research (or clinical trials) is being done for Lennox-Gastaut Syndrome ?,"The NINDS conducts and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies.",NINDS,Lennox-Gastaut Syndrome +What is (are) Myasthenia Gravis ?,"Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech. Myasthenia gravis is an autoimmune disease because the immune system--which normally protects the body from foreign organisms--mistakenly attacks itself.. It is not directly inherited nor is it contagious.",NINDS,Myasthenia Gravis +What are the treatments for Myasthenia Gravis ?,"Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of abnormal antibodies. These medications must be used with careful medical follow up because they may cause major side effects. Thymectomy, the surgical removal of the thymus gland (which often is abnormal in those with myasthenia gravis), improves symptoms in certain individuals Other therapies include plasmapheresis, a procedure in which abnormal antibodies are removed from the blood, and high-dose intravenous immune globulin, which temporarily modifies the immune system and provides the body with normal antibodies from donated blood.",NINDS,Myasthenia Gravis +What is the outlook for Myasthenia Gravis ?,"With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.",NINDS,Myasthenia Gravis +what research (or clinical trials) is being done for Myasthenia Gravis ?,"Scientists are evaluating new and improving current treatments for myasthenia gravis. Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating the disorder. One study seeks to understand the molecular basis of synaptic transmission in the nervous system. Thymectomy is being studied in individuals who do not have thymoma, to assess long-term benefit the surgery may have over medical therapy alone. And investigators are examining the safety and efficacy of autologous hematopoietic stem cell transplantation to treat refractory and severe myasthenia gravis.",NINDS,Myasthenia Gravis +What is (are) Apraxia ?,"Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.",NINDS,Apraxia +What are the treatments for Apraxia ?,"Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated.",NINDS,Apraxia +What is the outlook for Apraxia ?,The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.,NINDS,Apraxia +what research (or clinical trials) is being done for Apraxia ?,"The NINDS supports research on movement disorders and conditions such as apraxia. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.",NINDS,Apraxia +What is (are) Guillain-Barr Syndrome ?,"Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the person is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. The individual is often put on a ventilator to assist with breathing. Most individuals, however, have good recovery from even the most severe cases of Guillain-Barr syndrome (GBS), although some continue to have some degree of weakness. Guillain-Barr syndrome is rare. Usually Guillain-Barr occurs a few days or weeks after the person has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery will trigger the syndrome. In rare instances, vaccinations may increase the risk of GBS. The disorder can develop over the course of hours or days, or it may take up to 3 to 4 weeks. No one yet knows why Guillain-Barr strikes some people and not others or what sets the disease in motion. What scientists do know is that the body's immune system begins to attack the body itself, causing what is known as an autoimmune disease. Guillain-Barr is called a syndrome rather than a disease because it is not clear that a specific disease-causing agent is involved. Reflexes such as knee jerks are usually lost. Because the signals traveling along the nerve are slower, a nerve conduction velocity (NCV) test can give a doctor clues to aid the diagnosis. The cerebrospinal fluid that bathes the spinal cord and brain contains more protein than usual, so a physician may decide to perform a spinal tap.",NINDS,Guillain-Barr Syndrome +What are the treatments for Guillain-Barr Syndrome ?,"There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy are used. Plasmapheresis seems to reduce the severity and duration of the Guillain-Barr episode. In high-dose immunoglobulin therapy, doctors give intravenous injections of the proteins that in small quantities, the immune system uses naturally to attack invading organism. Investigators have found that giving high doses of these immunoglobulins, derived from a pool of thousands of normal donors, to Guillain-Barr patients can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome consists of keeping the patient's body functioning during recovery of the nervous system. This can sometimes require placing the patient on a ventilator, a heart monitor, or other machines that assist body function.",NINDS,Guillain-Barr Syndrome +What is the outlook for Guillain-Barr Syndrome ?,"Guillain-Barr syndrome can be a devastating disorder because of its sudden and unexpected onset. Most people reach the stage of greatest weakness within the first 2 weeks after symptoms appear, and by the third week of the illness 90 percent of all patients are at their weakest. The recovery period may be as little as a few weeks or as long as a few years. About 30 percent of those with Guillain-Barr still have a residual weakness after 3 years. About 3 percent may suffer a relapse of muscle weakness and tingling sensations many years after the initial attack.",NINDS,Guillain-Barr Syndrome +what research (or clinical trials) is being done for Guillain-Barr Syndrome ?,"Scientists are concentrating on finding new treatments and refining existing ones. Scientists are also looking at the workings of the immune system to find which cells are responsible for beginning and carrying out the attack on the nervous system. The fact that so many cases of Guillain-Barr begin after a viral or bacterial infection suggests that certain characteristics of some viruses and bacteria may activate the immune system inappropriately. Investigators are searching for those characteristics. Neurological scientists, immunologists, virologists, and pharmacologists are all working collaboratively to learn how to prevent this disorder and to make better therapies available when it strikes.",NINDS,Guillain-Barr Syndrome +What is (are) Isaacs' Syndrome ?,"Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Issacs' syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40. There are hereditary and acquired (occurring from unknown causes) forms of the disorder. The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.",NINDS,Isaacs' Syndrome +What are the treatments for Isaacs' Syndrome ?,"Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.",NINDS,Isaacs' Syndrome +What is the outlook for Isaacs' Syndrome ?,There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.,NINDS,Isaacs' Syndrome +what research (or clinical trials) is being done for Isaacs' Syndrome ?,"The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders.",NINDS,Isaacs' Syndrome +What is (are) Agnosia ?,"Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.",NINDS,Agnosia +What are the treatments for Agnosia ?,Treatment is generally symptomatic and supportive. The primary cause of the disorder should be determined in order to treat other problems that may contribute to or result in agnosia.,NINDS,Agnosia +What is the outlook for Agnosia ?,Agnosia can compromise quality of life.,NINDS,Agnosia +what research (or clinical trials) is being done for Agnosia ?,The NINDS supports research on disorders of the brain such as agnosia with the goal of finding ways to prevent or cure them.,NINDS,Agnosia +What is (are) Rett Syndrome ?,"Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.",NINDS,Rett Syndrome +What are the treatments for Rett Syndrome ?,"There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.",NINDS,Rett Syndrome +What is the outlook for Rett Syndrome ?,"The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy.",NINDS,Rett Syndrome +what research (or clinical trials) is being done for Rett Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis.",NINDS,Rett Syndrome +What is (are) Multifocal Motor Neuropathy ?,"Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It affects men much more than women. Symptoms also include muscle wasting, cramping, and involuntary contractions or twitching of the leg muscles. The disorder is sometimes mistaken for amyotrophic laterial sclerosis (ALS, or Lou Gehrig's disease) but unlike ALS, it is treatable. An early and accurate diagnosis allows patients to recover quickly.",NINDS,Multifocal Motor Neuropathy +What are the treatments for Multifocal Motor Neuropathy ?,"Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide.",NINDS,Multifocal Motor Neuropathy +What is the outlook for Multifocal Motor Neuropathy ?,"Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.",NINDS,Multifocal Motor Neuropathy +what research (or clinical trials) is being done for Multifocal Motor Neuropathy ?,"The NINDS supports a broad range of research on neuromuscular disorders with the goal of finding ways to prevent, treat, and, ultimately, cure them.",NINDS,Multifocal Motor Neuropathy +What is (are) Neurosyphilis ?,"Neurosyphilis is a disease of the coverings of the brain, the brain itself, or the spinal cord. It can occur in people with syphilis, especially if they are left untreated. Neurosyphilis is different from syphilis because it affects the nervous system, while syphilis is a sexually transmitted disease with different signs and symptoms. There are five types of neurosyphilis: + +- asymptomatic neurosyphilis - meningeal neurosyphilis - meningovascular neurosyphilis - general paresis, and - tabes dorsalis. + +Asymptomatic neurosyphilis means that neurosyphilis is present, but the individual reports no symptoms and does not feel sick. Meningeal syphilis can occur between the first few weeks to the first few years of getting syphilis. Individuals with meningeal syphilis can have headache, stiff neck, nausea, and vomiting. Sometimes there can also be loss of vision or hearing. Meningovascular syphilis causes the same symptoms as meningeal syphilis but affected individuals also have strokes. This form of neurosyphilis can occur within the first few months to several years after infection. General paresis can occur between 3 30 years after getting syphilis. People with general paresis can have personality or mood changes. Tabes dorsalis is characterized by pains in the limbs or abdomen, failure of muscle coordination, and bladder disturbances. Other signs include vision loss, loss of reflexes and loss of sense of vibration, poor gait, and impaired balance. Tabes dorsalis can occur anywhere from 5 50 years after initial syphilis infection. General paresis and tabes dorsalis are now less common than the other forms of neurosyphilis because of advances made in prevention, screening, and treatment. People with HIV/AIDS are at higher risk of having neurosyphilis.",NINDS,Neurosyphilis +What are the treatments for Neurosyphilis ?,"Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. Some medical professionals recommend another antibiotic called ceftriaxone for neurosyphilis treatment. This drug is usually given daily by vein, but it can also be given by intramuscular injection. Individuals who receive ceftriaxone are also treated for 10 - 14 days. People with HIV/AIDS who get treated for neurosyphilis may have different outcomes than individuals without HIV/AIDS.",NINDS,Neurosyphilis +What is the outlook for Neurosyphilis ?,"Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. Individuals who receive treatment many years after they have been infected have a worse prognosis. Treatment outcome is different for every person.",NINDS,Neurosyphilis +what research (or clinical trials) is being done for Neurosyphilis ?,"The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders.",NINDS,Neurosyphilis +What is (are) Sleep Apnea ?,"Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. The most common type of sleep apnea is obstructive sleep apnea (OSA), caused by relaxation of soft tissue in the back of the throat that blocks the passage of air. Central sleep apnea (CSA) is caused by irregularities in the brains normal signals to breathe. Most people with sleep apnea will have a combination of both types. The hallmark symptom of the disorder is excessive daytime sleepiness. Additional symptoms of sleep apnea include restless sleep, loud snoring (with periods of silence followed by gasps), falling asleep during the day, morning headaches, trouble concentrating, irritability, forgetfulness, mood or behavior changes, anxiety, and depression. Not everyone who has these symptoms will have sleep apnea, but it is recommended that people who are experiencing even a few of these symptoms visit their doctor for evaluation. Sleep apnea is more likely to occur in men than women, and in people who are overweight or obese.",NINDS,Sleep Apnea +What are the treatments for Sleep Apnea ?,"There are a variety of treatments for sleep apnea, depending on an individuals medical history and the severity of the disorder. Most treatment regimens begin with lifestyle changes, such as avoiding alcohol and medications that relax the central nervous system (for example, sedatives and muscle relaxants), losing weight, and quitting smoking. Some people are helped by special pillows or devices that keep them from sleeping on their backs, or oral appliances to keep the airway open during sleep. If these conservative methods are inadequate, doctors often recommend continuous positive airway pressure (CPAP), in which a face mask is attached to a tube and a machine that blows pressurized air into the mask and through the airway to keep it open. Also available are machines that offer variable positive airway pressure (VPAP) and automatic positive airway pressure (APAP). There are also surgical procedures that can be used to remove tissue and widen the airway. Some individuals may need a combination of therapies to successfully treat their sleep apnea.",NINDS,Sleep Apnea +What is the outlook for Sleep Apnea ?,"Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. Although there is no cure for sleep apnea, recent studies show that successful treatment can reduce the risk of heart and blood pressure problems.",NINDS,Sleep Apnea +what research (or clinical trials) is being done for Sleep Apnea ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to sleep apnea in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure sleep disorders, such as sleep apnea.",NINDS,Sleep Apnea +What is (are) Fahr's Syndrome ?,"Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a ""pill-rolling"" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.",NINDS,Fahr's Syndrome +What are the treatments for Fahr's Syndrome ?,"There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis.",NINDS,Fahr's Syndrome +What is the outlook for Fahr's Syndrome ?,"The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.",NINDS,Fahr's Syndrome +what research (or clinical trials) is being done for Fahr's Syndrome ?,The NINDS supports and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome.,NINDS,Fahr's Syndrome +What is (are) Polymyositis ?,"Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias. In some cases of polymyositis, distal muscles (muscles further away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Polymyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. Polymyositis may also be associated with infectious disorders, such as HIV-AIDS.",NINDS,Polymyositis +What are the treatments for Polymyositis ?,"There is no cure for polymyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion.",NINDS,Polymyositis +What is the outlook for Polymyositis ?,"The prognosis for polymyositis varies. Most people respond fairly well to therapy, but some have a more severe disease that does not respond adequately to therapies and are left with significant disability. In rare cases individuals with severe and progressive muscle weakness will develop respiratory failure or pneumonia. Difficulty swallowing may cause weight loss and malnutrition.",NINDS,Polymyositis +what research (or clinical trials) is being done for Polymyositis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",NINDS,Polymyositis +What is (are) Sydenham Chorea ?,"Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.",NINDS,Sydenham Chorea +What are the treatments for Sydenham Chorea ?,"There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.",NINDS,Sydenham Chorea +What is the outlook for Sydenham Chorea ?,"Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. In a third of the children with the disease, SD will recur, typically 1 to 2 years after the initial attack. Researchers have noted an association between recurrent SD and the later development of the abrupt onset forms of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infection. Further studies are needed to determine the nature of the association and the biological pathways that connect streptococcal infection, autoimmune response, and the later development of these specific behavioral disorders.",NINDS,Sydenham Chorea +what research (or clinical trials) is being done for Sydenham Chorea ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are studying how the interplay of genetic, developmental, and environmental factors could determine a childs vulnerability to SD after a GABHS infection. Other researchers are exploring whether children whose symptoms either begin or get worse following a GABHS infection share a common set of abnormal biomolecular pathways responsible for their similar clinical symptoms.",NINDS,Sydenham Chorea +What is (are) Cephalic Disorders ?,"Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.",NINDS,Cephalic Disorders +What are the treatments for Cephalic Disorders ?,"Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases, anticonvulsant medications shunts, or physical therapy are appropriate.",NINDS,Cephalic Disorders +What is the outlook for Cephalic Disorders ?,"The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity.",NINDS,Cephalic Disorders +what research (or clinical trials) is being done for Cephalic Disorders ?,"Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Currently, researchers are examining the mechanisms involved in neurulation -- the process of forming the neural tube. Investigators are also conducting a variety of genetic studies. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.",NINDS,Cephalic Disorders +What is (are) Antiphospholipid Syndrome ?,"Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs. In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arteries or veins. APS is sometimes called sticky blood syndrome, because of the increased tendency to form blood clots in the veins and arteries. The symptoms of APS are due to the abnormal blood clotting. Clots can develop in the veins of the legs and lungs, or in the placenta of pregnant women. One of the most serious complications of APS occurs when a clot forms in the brain and causes a stroke. Other neurological symptoms include chronic headaches, dementia (similar to the dementia of Alzheimers disease), and seizures. Infrequently, individuals will develop chorea (a movement disorder in which the body and limbs writhe uncontrollably), cognitive dysfunction (such as poor memory), transverse myelitis, depression or psychosis, optic neuropathy, or sudden hearing loss. In pregnant women, clots in the placenta can cause miscarriages. APS is diagnosed by the presence of a positive antiphospholipid antibody and either a history of blood clots in an artery or vein or a history of multiple miscarriages or other pregnancy problems. Some individuals will have a characteristic lacy, net-like red rash called livedo reticularis over their wrists and knees.",NINDS,Antiphospholipid Syndrome +What are the treatments for Antiphospholipid Syndrome ?,"The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. Pregnant women are treated with either aspirin or another anticoagulant -- heparin -- since warfarin can cause birth defects.",NINDS,Antiphospholipid Syndrome +What is the outlook for Antiphospholipid Syndrome ?,"APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat a healthy diet to prevent high blood pressure and diabetes, which are diseases that increase the risk for stroke. Treating pregnant women with aspirin or heparin usually prevents miscarriages related to APS.",NINDS,Antiphospholipid Syndrome +what research (or clinical trials) is being done for Antiphospholipid Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research on APS through grants to major medical institutions across the country.NINDS-funded research is looking at ways to reduce clotting and prevent stroke. Among other NIH-funded research efforts, scientists are examining the role of antiphospholipid antibodies in clotting and pregnancy loss, which is commonly seen in individuals with lupus. Another project hopes to identify potential inherited risk factors for the development of APS.",NINDS,Antiphospholipid Syndrome +What are the complications of Machado-Joseph Disease ?,"Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a ""bull's eye"" appearance (a red ring with a clear center). However, there are those who will not develop the rash, which can make Lyme disease hard to diagnose because its symptoms and signs mimic those of many other diseases. + +Anywhere from 7 to 14 days (or in some cases, 30 days) following an infected tick's bite, the first stage of Lyme disease may begin with flu-like symptoms such as fever, chills, swollen lymph nodes, headaches, fatigue, muscle aches, and joint pain. + +Neurological complications most often occur in the second stage of Lyme disease, with numbness, pain, weakness, Bell's palsy (paralysis of the facial muscles), visual disturbances, and meningitis symptoms such as fever, stiff neck, and severe headache. Other problems, which may not appear until weeks, months, or years after a tick bite, include decreased concentration, irritability, memory and sleep disorders, and nerve damage in the arms and legs.",NINDS,Machado-Joseph Disease +What are the treatments for Machado-Joseph Disease ?,Lyme disease is treated with antibiotics under the supervision of a physician.,NINDS,Machado-Joseph Disease +What is the outlook for Machado-Joseph Disease ?,"Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.",NINDS,Machado-Joseph Disease +what research (or clinical trials) is being done for Machado-Joseph Disease ?,"The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease.",NINDS,Machado-Joseph Disease +What is (are) Niemann-Pick Disease ?,"Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.",NINDS,Niemann-Pick Disease +What are the treatments for Niemann-Pick Disease ?,There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzyme replacement and gene therapies might also be helpful for those with type B. restricting one's diet does not prevent the buildup of lipids in cells and tissues.,NINDS,Niemann-Pick Disease +What is the outlook for Niemann-Pick Disease ?,"Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood.",NINDS,Niemann-Pick Disease +what research (or clinical trials) is being done for Niemann-Pick Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts and supports research about Niemann-Pick disease through research grants to research institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.",NINDS,Niemann-Pick Disease +What is (are) Hemicrania Continua ?,"Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of the face and head, and is superimposed with additional debilitating symptoms. on the continuous but fluctuating pain are occasional attacks of more severe pain. A small percentage of individuals with hemicrania continua have bilateral pain, or pain on both sides of the head. A headache is considered hemicrania continua if the person has had a one-sided daily or continuous headache of moderate intensity with occasional short, piercing head pain for more than 3 months without shifting sides or pain-free periods. The headache must also be completely responsive to treatment with the non-steroidal anti-inflammatory drug drug indomethacin. It must have at least one of the following symptoms: eye redness and/or tearing, nasal congestion and/or runny nose, ptosis (drooping eyelid) and miosis (contracture of the iris). Occasionally, individuals will also have forehead sweating and migraine symptoms, such as throbbing pain, nausea and/or vomiting, or sensitivity to light and sound. The disorder has two forms: chronic, with daily headaches, and remitting, in which headaches may occur for a period as long as 6 months and are followed by a pain-free period of weeks to months until the pain returns. Most patients experience attacks of increased pain three to five times per 24-hour cycle. This disorder is more common in women than in men. Physical exertion and alcohol use may increase the severity of headache pain in some patients. The cause of this disorder is unknown.",NINDS,Hemicrania Continua +What are the treatments for Hemicrania Continua ?,"Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. For those who cannot tolerate the side effects, another NSAID, celecoxib, has been shown to have less complications and can be prescribed. Amitriptyline and other tricyclic antidepressants are also effective in some individuals with hemicrania continua as a preventative treatment.",NINDS,Hemicrania Continua +What is the outlook for Hemicrania Continua ?,Individuals may obtain complete to near-complete relief of symptoms with proper medical attention and daily medication. Some people may not be able to tolerate long-term use of indomethacin and may have to rely on less effective NSAIDs.,NINDS,Hemicrania Continua +what research (or clinical trials) is being done for Hemicrania Continua ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to hemicrania continua through grants to medical research institutions across the country. Much of this research focuses on understanding hemicrania continua in order to finding better ways to prevent, treat, and ultimately cure the disorder.",NINDS,Hemicrania Continua +What is (are) Brain and Spinal Tumors ?,"Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neuron, specific genetic disease (such as neurofibromatosis type 1 and tuberous sclerosis), or from exposure to radiation or cancer-causing chemicals. Metastatic, or secondary, tumors in the CNS are caused by cancer cells that break away from a primary tumor located in another region of the body. Tumors can place pressure on sensitive tissues and impair function..Symptoms of brain tumors include headaches, seizures, nausea and vomiting, poor vision or hearing, changes in behavior, unclear thinking, and unsteadiness. Spinal cord tumor symptoms include pain, numbness, and paralysis. Diagnosis is made after a neurological examination, special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography), laboratory tests, and a biopsy (in which a sample of tissue is taken from a suspected tumor and examined).",NINDS,Brain and Spinal Tumors +What are the treatments for Brain and Spinal Tumors ?,"The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS.",NINDS,Brain and Spinal Tumors +What is the outlook for Brain and Spinal Tumors ?,"Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome, or prognosis, for the individual.",NINDS,Brain and Spinal Tumors +what research (or clinical trials) is being done for Brain and Spinal Tumors ?,"Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. Of particular interest to scientists is the development of tailored therapeutics--involving a combination of targeted agents that use different molecules to reduce tumor gene activity and suppress uncontrolled growth by killing or reducing the production of tumor cells--to treat tumors based on their genetic makeup. Researchers continue to search for additional clinical biomarkers (molecules or other substances in the blood or tissue that can be used to diagnose or monitor a particular disorder) of CNS tumors. Other researchers are testing different drugs and molecules to see if they can modulate the normal activity of the blood-brain barrier and better target tumor cells and associated blood vessels. Also under investigation are ways to improve drug delivery to the tumor and to prevent the side-effects of cancer treatments.",NINDS,Brain and Spinal Tumors +What is (are) Von Hippel-Lindau Disease (VHL) ?,"von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.",NINDS,Von Hippel-Lindau Disease (VHL) +What are the treatments for Von Hippel-Lindau Disease (VHL) ?,"Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.",NINDS,Von Hippel-Lindau Disease (VHL) +What is the outlook for Von Hippel-Lindau Disease (VHL) ?,"The prognosis for individuals with VHL depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.",NINDS,Von Hippel-Lindau Disease (VHL) +what research (or clinical trials) is being done for Von Hippel-Lindau Disease (VHL) ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL. A natural history study hopes to learn more about the growth of brain and spinal cord tumors, as well as cysts that develop in association with them in individuals with VHL. Researchers will examine how fast the tumors grow and try to determine which factors (such as puberty, pregnancy, menopause, or blood proteins) affect tumor growth. Based on laboratory findings, NINDS researchers are planning drug trials for individuals with VHL. For example, NNDS scientists hope to learn if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with VHL. The NIH's National Cancer Institute conducts research aimed at treating kidney tumors in individuals with VHL, as well as studies to identify gene mutations in people who are at risk of developing the disease..",NINDS,Von Hippel-Lindau Disease (VHL) +What is (are) Behcet's Disease ?,"Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. It tends to occur more often in men than in women. Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation. The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet's is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. + +The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications. The disease is common in the Middle East, particularly in Turkey, and in Far Eastern nations such as Japan and Korean, but is less common in the United States.",NINDS,Behcet's Disease +What are the treatments for Behcet's Disease ?,Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered.,NINDS,Behcet's Disease +What is the outlook for Behcet's Disease ?,Behcet's disease is a lifelong disorder that comes and goes. Permanent remission of symptoms has not been reported.,NINDS,Behcet's Disease +what research (or clinical trials) is being done for Behcet's Disease ?,"The NINDS supports research on painful neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed at discovering the causes of these disorders and finding ways to treat, prevent, and, ultimately, cure them.",NINDS,Behcet's Disease +What is (are) Progressive Supranuclear Palsy ?,"Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individualsoften show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. + +The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). + +PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.",NINDS,Progressive Supranuclear Palsy +What are the treatments for Progressive Supranuclear Palsy ?,"There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually temporary. The speech, vision, and swallowing difficulties usually do not respond to any drug treatment.. Another group of drugs that has been of some modest success in PSP are antidepressant medications. The most commonly used of these drugs are Prozac, Elavil, and Tofranil. The anti-PSP benefit of these drugs seems not to be related to their ability to relieve depression. Non-drug treatment for PSP can take many forms. Patients frequently use weighted walking aids because of their tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for PSP patients to remedy the difficulty of looking down. Formal physical therapy is of no proven benefit in PSP, but certain exercises can be done to keep the joints limber. A surgical procedure, a gastrostomy, may be necessary when there are swallowing disturbances. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.",NINDS,Progressive Supranuclear Palsy +What is the outlook for Progressive Supranuclear Palsy ?,"PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. The most common cause of death is pneumonia. With good attention to medical and nutritional needs, however, most PSP patients live well into their 70s and beyond.",NINDS,Progressive Supranuclear Palsy +what research (or clinical trials) is being done for Progressive Supranuclear Palsy ?,"Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases.",NINDS,Progressive Supranuclear Palsy +What is (are) Myotonia Congenita ?,"Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesnt cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsens disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.",NINDS,Myotonia Congenita +What are the treatments for Myotonia Congenita ?,"Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.",NINDS,Myotonia Congenita +What is the outlook for Myotonia Congenita ?,"Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.",NINDS,Myotonia Congenita +what research (or clinical trials) is being done for Myotonia Congenita ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.",NINDS,Myotonia Congenita +What is (are) Tardive Dyskinesia ?,"Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Involuntary movements of the fingers may be present.",NINDS,Tardive Dyskinesia +What are the treatments for Tardive Dyskinesia ?,"Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.",NINDS,Tardive Dyskinesia +What is the outlook for Tardive Dyskinesia ?,"Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs. In many cases, the symptoms stop spontaneously, but in some cases they may persist indefinitely.",NINDS,Tardive Dyskinesia +what research (or clinical trials) is being done for Tardive Dyskinesia ?,"The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.",NINDS,Tardive Dyskinesia +What is (are) Cerebral Atrophy ?,"Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired. + +Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include: + +- stroke and traumatic brain injury - Alzheimers disease, Picks disease, and fronto-temporal dementia - cerebral palsy, in which lesions (damaged areas) may impair motor coordination - Huntingtons disease, and other hereditary diseases that are associated with genetic mutations - leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons - mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons - multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue - infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons + +Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias. + +- Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. - Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. - Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.",NINDS,Cerebral Atrophy +what research (or clinical trials) is being done for Cerebral Atrophy ?,"The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy.",NINDS,Cerebral Atrophy +What is (are) Monomelic Amyotrophy ?,"Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.",NINDS,Monomelic Amyotrophy +What are the treatments for Monomelic Amyotrophy ?,There is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination,NINDS,Monomelic Amyotrophy +What is the outlook for Monomelic Amyotrophy ?,"The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course.",NINDS,Monomelic Amyotrophy +what research (or clinical trials) is being done for Monomelic Amyotrophy ?,"The NINDS conducts and supports a broad range of research on motor neuron diseases. The goals of these studies are to increase understanding of these disorders and to find ways to treat, prevent, and ultimately cure them.",NINDS,Monomelic Amyotrophy +What is (are) Benign Essential Blepharospasm ?,"Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.",NINDS,Benign Essential Blepharospasm +What are the treatments for Benign Essential Blepharospasm ?,In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery.,NINDS,Benign Essential Blepharospasm +What is the outlook for Benign Essential Blepharospasm ?,"With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously.",NINDS,Benign Essential Blepharospasm +what research (or clinical trials) is being done for Benign Essential Blepharospasm ?,"The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them.",NINDS,Benign Essential Blepharospasm +What is (are) Tay-Sachs Disease ?,"Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have ""cherry-red"" spots in their eyes.A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.",NINDS,Tay-Sachs Disease +What are the treatments for Tay-Sachs Disease ?,Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.,NINDS,Tay-Sachs Disease +What is the outlook for Tay-Sachs Disease ?,"Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.",NINDS,Tay-Sachs Disease +what research (or clinical trials) is being done for Tay-Sachs Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression. Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.",NINDS,Tay-Sachs Disease +What is (are) Rasmussen's Encephalitis ?,"Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussens encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Rasmussens encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.Research is ongoing into the causes of this rare disease.",NINDS,Rasmussen's Encephalitis +What are the treatments for Rasmussen's Encephalitis ?,"Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.",NINDS,Rasmussen's Encephalitis +What is the outlook for Rasmussen's Encephalitis ?,"The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. For some children, surgery decreases seizures. However, most individuals with Rasmussens encephalitis are left with some paralysis, cognitive deficits, and problems with speech. In some cases, the disease can progress to involve the opposite brain hemisphere.",NINDS,Rasmussen's Encephalitis +what research (or clinical trials) is being done for Rasmussen's Encephalitis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure progressive neurological disorders, such as Rasmussens encephalitis.",NINDS,Rasmussen's Encephalitis +What is (are) Klippel Feil Syndrome ?,"Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.",NINDS,Klippel Feil Syndrome +What are the treatments for Klippel Feil Syndrome ?,"Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.",NINDS,Klippel Feil Syndrome +What is the outlook for Klippel Feil Syndrome ?,The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.,NINDS,Klippel Feil Syndrome +what research (or clinical trials) is being done for Klippel Feil Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abuot the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. These studies contribute to a greater understanding of birth defects such as Klippel-Feil Syndrome and open promising new avenues for treatment.",NINDS,Klippel Feil Syndrome +What is (are) Sjgren's Syndrome ?,"Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjgren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjgren's syndrome than men.",NINDS,Sjgren's Syndrome +What are the treatments for Sjgren's Syndrome ?,"There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed.",NINDS,Sjgren's Syndrome +What is the outlook for Sjgren's Syndrome ?,"Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life.",NINDS,Sjgren's Syndrome +what research (or clinical trials) is being done for Sjgren's Syndrome ?,"The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease.",NINDS,Sjgren's Syndrome +What is (are) Gerstmann's Syndrome ?,"Gerstmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms: a writing disability (agraphia or dysgraphia), a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia), an inability to distinguish right from left, and an inability to identify fingers (finger agnosia). The disorder should not be confused with Gerstmann-Strussler-Scheinker disease, a type of transmissible spongiform encephalopathy. + +In addition to exhibiting the above symptoms, many adults also experience aphasia, (difficulty in expressing oneself when speaking, in understanding speech, or in reading and writing). + +There are few reports of the syndrome, sometimes called developmental Gerstmann's syndrome, in children. The cause is not known. Most cases are identified when children reach school age, a time when they are challenged with writing and math exercises. Generally, children with the disorder exhibit poor handwriting and spelling skills, and difficulty with math functions, including adding, subtracting, multiplying, and dividing. An inability to differentiate right from left and to discriminate among individual fingers may also be apparent. In addition to the four primary symptoms, many children also suffer from constructional apraxia, an inability to copy simple drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder.",NINDS,Gerstmann's Syndrome +What are the treatments for Gerstmann's Syndrome ?,"There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.",NINDS,Gerstmann's Syndrome +What is the outlook for Gerstmann's Syndrome ?,"In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.",NINDS,Gerstmann's Syndrome +what research (or clinical trials) is being done for Gerstmann's Syndrome ?,The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them.,NINDS,Gerstmann's Syndrome +What is (are) Melkersson-Rosenthal Syndrome ?,"Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.",NINDS,Melkersson-Rosenthal Syndrome +What are the treatments for Melkersson-Rosenthal Syndrome ?,"Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed.",NINDS,Melkersson-Rosenthal Syndrome +What is the outlook for Melkersson-Rosenthal Syndrome ?,Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis.,NINDS,Melkersson-Rosenthal Syndrome +what research (or clinical trials) is being done for Melkersson-Rosenthal Syndrome ?,"The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them.",NINDS,Melkersson-Rosenthal Syndrome +What is (are) Kearns-Sayre Syndrome ?,"Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.",NINDS,Kearns-Sayre Syndrome +What are the treatments for Kearns-Sayre Syndrome ?,"There is currently no effective way to treat mitochondria abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart impulse like heart block may be treated with a pacemaker. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Hearing aids may be required. There is typically no treatment for limitation in eye movement. Endocrinology abnormalities can be treated with drugs.",NINDS,Kearns-Sayre Syndrome +What is the outlook for Kearns-Sayre Syndrome ?,KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.,NINDS,Kearns-Sayre Syndrome +what research (or clinical trials) is being done for Kearns-Sayre Syndrome ?,"The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria.",NINDS,Kearns-Sayre Syndrome +What is (are) Myopathy ?,"The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs",NINDS,Myopathy +What are the treatments for Myopathy ?,"Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery.",NINDS,Myopathy +What is the outlook for Myopathy ?,"The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.",NINDS,Myopathy +what research (or clinical trials) is being done for Myopathy ?,"The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them.",NINDS,Myopathy +What is (are) Wernicke-Korsakoff Syndrome ?,"Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. Symptoms include mental confusion, vision problems, coma, hypothermia, low blood pressure, and lack of muscle coordination (ataxia). Korsakoff syndrome (also called Korsakoff's amnesic syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages nerve cells and supporting cells in the brain and spinal cord, as well as the part of the brain involved with memory. Symptoms include amnesia, tremor, coma, disorientation, and vision problems, The disorder's main features are problems in acquiring new information or establishing new memories, and in retrieving previous memories. Although Wernicke's and Korsakoff's are related disorders, some scientists believe them to be different stages of the same disorder, which is called Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the ""acute"" phase of the disorder and Korsakoff's amnesic syndrome represents the disorder progressing to a ""chronic"" or long-lasting stage.",NINDS,Wernicke-Korsakoff Syndrome +What are the treatments for Wernicke-Korsakoff Syndrome ?,"Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.",NINDS,Wernicke-Korsakoff Syndrome +What is the outlook for Wernicke-Korsakoff Syndrome ?,"Most symptoms of Wernicke's encephalopathy can be reversed if detected and treated promptly and completely. Stopping alcohol use may prevent further nerve and brain damage. However, improvement in memory function is slow and, usually, incomplete. Without treatment, these disorders can be disabling and life-threatening.",NINDS,Wernicke-Korsakoff Syndrome +what research (or clinical trials) is being done for Wernicke-Korsakoff Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on neurological disorders such as Wernicke's encephalopathy, Korsakoff's amnesic syndrome, and Wernicke-Korsakoff syndrome, to expand our understanding of the functional changes of the diseases and ways to treat them..One areas of research is studying how exercise can improve cognitive functioning based on modulation of certain nerve cells in a rodent model of amnesia produced by by thiamine deficiency. The National Institute of Alcohol Abuse and Alcoholism also supports research on these disorders.",NINDS,Wernicke-Korsakoff Syndrome +What is (are) Dementia ?,"Dementia is not a specific disease. It is a descriptive term for a collection of symptoms that can be caused by a number of disorders that affect the brain. People with dementia have significantly impaired intellectual functioning that interferes with normal activities and relationships. They also lose their ability to solve problems and maintain emotional control, and they may experience personality changes and behavioral problems, such as agitation, delusions, and hallucinations. While memory loss is a common symptom of dementia, memory loss by itself does not mean that a person has dementia. Doctors diagnose dementia only if two or more brain functions - such as memory and language skills -- are significantly impaired without loss of consciousness. Some of the diseases that can cause symptoms of dementia are Alzheimers disease, vascular dementia, Lewy body dementia, frontotemporal dementia, Huntingtons disease, and Creutzfeldt-Jakob disease. Doctors have identified other conditions that can cause dementia or dementia-like symptoms including reactions to medications, metabolic problems and endocrine abnormalities, nutritional deficiencies, infections, poisoning, brain tumors, anoxia or hypoxia (conditions in which the brains oxygen supply is either reduced or cut off entirely), and heart and lung problems. Although it is common in very elderly individuals, dementia is not a normal part of the aging process.",NINDS,Dementia +What are the treatments for Dementia ?,"Drugs to specifically treat Alzheimers disease and some other progressive dementias are now available. Although these drugs do not halt the disease or reverse existing brain damage, they can improve symptoms and slow the progression of the disease. This may improve an individuals quality of life, ease the burden on caregivers, or delay admission to a nursing home. Many researchers are also examining whether these drugs may be useful for treating other types of dementia. Many people with dementia, particularly those in the early stages, may benefit from practicing tasks designed to improve performance in specific aspects of cognitive functioning. For example, people can sometimes be taught to use memory aids, such as mnemonics, computerized recall devices, or note taking.",NINDS,Dementia +What is the outlook for Dementia ?,"There are many disorders that can cause dementia. Some, such as Alzheimers disease or Huntingtons disease, lead to a progressive loss of mental functions. But other types of dementia can be halted or reversed with appropriate treatment. People with moderate or advanced dementia typically need round-the-clock care and supervision to prevent them from harming themselves or others. They also may need assistance with daily activities such as eating, bathing, and dressing.",NINDS,Dementia +what research (or clinical trials) is being done for Dementia ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to dementia in laboratories at the NIH and also support additional dementia research through grants to major medical institutions across the country. Current research focuses on many different aspects of dementia. This research promises to improve the lives of people affected by the dementias and may eventually lead to ways of preventing or curing these disorders.,NINDS,Dementia +What is (are) Klippel-Trenaunay Syndrome (KTS) ?,"Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).",NINDS,Klippel-Trenaunay Syndrome (KTS) +What are the treatments for Klippel-Trenaunay Syndrome (KTS) ?,"There is no cure for KTS. Treatment is symptomatic. Laser surgery can diminish or erase some skin lesions. Surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate.",NINDS,Klippel-Trenaunay Syndrome (KTS) +What is the outlook for Klippel-Trenaunay Syndrome (KTS) ?,"KTS is often a progressive disorder, and complications may be life-threatening. However, many individuals can live well while managing their symptoms.",NINDS,Klippel-Trenaunay Syndrome (KTS) +what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS) ?,The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them.,NINDS,Klippel-Trenaunay Syndrome (KTS) +What is (are) Hydrocephalus ?,"Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele. Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages. For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury. Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called ""sunsetting""), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.",NINDS,Hydrocephalus +What are the treatments for Hydrocephalus ?,"Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. In this procedure, a small hole is made in the floor of the third ventricle, allowing the CSF to bypass the obstruction and flow toward the site of resorption around the surface of the brain.",NINDS,Hydrocephalus +What is the outlook for Hydrocephalus ?,"The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of hydrocephalus and the patient's outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatment. The symptoms of normal pressure hydrocephalus usually get worse over time if the condition is not treated, although some people may experience temporary improvements. If left untreated, progressive hydrocephalus is fatal, with rare exceptions. The parents of children with hydrocephalus should be aware that hydrocephalus poses risks to both cognitive and physical development. Treatment by an interdisciplinary team of medical professionals, rehabilitation specialists, and educational experts is critical to a positive outcome. Many children diagnosed with the disorder benefit from rehabilitation therapies and educational interventions, and go on to lead normal lives with few limitations.",NINDS,Hydrocephalus +what research (or clinical trials) is being done for Hydrocephalus ?,"The NINDS conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal brain development. Much of this research focuses on finding better ways to protect, treat, and ultimately cure disorders such as hydrocephalus.",NINDS,Hydrocephalus +What is (are) Fabry Disease ?,"Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys. Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Excess material buildup can lead to clouding in the corneas. Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal difficulties.Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.",NINDS,Fabry Disease +What are the treatments for Fabry Disease ?,"Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some individuals with the disorder. The pain that accompanies the disease may be treated with anticonvulsants. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation. Restricting one's diet does not prevent lipid buildup in cells and tissues.",NINDS,Fabry Disease +What is the outlook for Fabry Disease ?,"Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.",NINDS,Fabry Disease +what research (or clinical trials) is being done for Fabry Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.",NINDS,Fabry Disease +What is (are) Mucopolysaccharidoses ?,"The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.Depending on the type of mucopolysaccharidosis, affected individuals may have normal intellect or may be profoundly impaired, may experience developmental delay, or have severe behavioral problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth.",NINDS,Mucopolysaccharidoses +What are the treatments for Mucopolysaccharidoses ?,"Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among individuals with significant corneal clouding.Enzyme replacement therapies are currently in use for several MPS disorders and are beig tested in the other MPS disorders. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.",NINDS,Mucopolysaccharidoses +What is the outlook for Mucopolysaccharidoses ?,"The mucopolysaccharidoses syndromes share many clinical features but have varying degrees of severity. Most individuals with a mucopolysaccharidosis syndrome generally experience a period of normal development followed by a decline in physical and mental function. Longevity is dependent upon the particular syndrome. For example, children with a form of mucopolysaccharidosis called Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications. A child with the type known as Scheie syndrome can live into adulthood, while one with a mild case of the type known as Hunter syndrome may live into his or her 50s or beyond.",NINDS,Mucopolysaccharidoses +what research (or clinical trials) is being done for Mucopolysaccharidoses ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS, along with other Institutes at the National Institutes of Health, supports the Lysosomal Disease network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of diseases, including the mucopolysaccharidoses. Centers are conducting longitudinal studies of the natural history and/or treatment of these disorders. Scientists are working to identify the genes associated with the mucopolysaccharidoses syndromes and plan to test new therapies in animal models and in humans. Other research funded by the NINDS has shown that viral-delivered gene therapy in animal models of the mucopolysaccharidoses can stop the buildup of storage materials in brain cells and improve learning and memory. Researchers are planning additional studies to understand how gene therapy prompts recovery of mental function in these animal models, but it may be years before such treatment is available to humans.",NINDS,Mucopolysaccharidoses +What is (are) Restless Legs Syndrome ?,"Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs and an uncontrollable, and sometimes overwhelming, urge to move them for relief. Individuals affected with the disorder often describe the sensations as throbbing, polling, or creeping. The sensations range in severity from uncomfortable to irritating to painful.",NINDS,Restless Legs Syndrome +What are the treatments for Restless Legs Syndrome ?,"For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, and magnesium. Taking a hot bath, massaging the legs, or using a heating pad or ice pack can help relieve symptoms in some patients. + +Physicians also may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, and anticonvulsants. The drugs ropinirole, pramipexole, gabapentin enacarbil, and rotigotine have been approved by the U.S. Food and Drug Administration for treating moderate to severe RLS. The Relaxis pad, which the person can place at the site of discomfort when in bed and provides 30 minutes of vibrations (counterstimulation) that ramp off after 30 minutes, also has been approved by the FDA.",NINDS,Restless Legs Syndrome +What is the outlook for Restless Legs Syndrome ?,"RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear.",NINDS,Restless Legs Syndrome +what research (or clinical trials) is being done for Restless Legs Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, find improved methods of diagnosing and treating the syndrome, and discover ways to prevent it.",NINDS,Restless Legs Syndrome +What is (are) Cerebellar Degeneration ?,"Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons. + +Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include: + +- ischemic or hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum - cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature - Friedreichs ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that result in ongoing loss of neurons in the cerebellum, brain stem, and spinal cord - transmissible spongiform encephalopathies (such as Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, including the cerebellum - multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum Other diseases that can cause cerebellar degeneration include: - chronic alcohol abuse that leads to temporary or permanent cerebellar damage - paraneoplastic disorders, in which a malignancy (cancer) in other parts of the body produces substances that cause immune system cells to attack neurons in the cerebellum Symptoms of cerebellar degeneration: The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes.",NINDS,Cerebellar Degeneration +what research (or clinical trials) is being done for Cerebellar Degeneration ?,"The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration.",NINDS,Cerebellar Degeneration +What is (are) Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,"Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. Although it can occur at any age and in both genders, CIDP is more common in young adults, and in men more so than women. It often presents with symptoms that include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP is closely related to Guillain-Barre syndrome and it is considered the chronic counterpart of that acute disease.",NINDS,Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) +What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,"Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle strength, function and mobility, and minimize the shrinkage of muscles and tendons and distortions of the joints.",NINDS,Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) +What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,"The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recommended. However, some individuals are left with some residual numbness or weakness.",NINDS,Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) +what research (or clinical trials) is being done for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,"The NINDS supports a broad program of research on disorders of the nervous system, including CIDP. Much of this research is aimed at increasing the understanding of these disorders and finding ways to prevent, treat, and cure them.",NINDS,Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) +What is (are) Complex Regional Pain Syndrome ?,"Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, intense pain out of proportion to the severity of the injury, which gets worse rather than better over time. CRPS most often affects one of the arms, legs, hands, or feet. Often the pain spreads to include the entire arm or leg. Typical features include dramatic changes in the color and temperature of the skin over the affected limb or body part, accompanied by intense burning pain, skin sensitivity, sweating, and swelling. Doctors arent sure what causes CRPS. In some cases the sympathetic nervous system plays an important role in sustaining the pain. Another theory is that CRPS is caused by a triggering of the immune response, which leads to the characteristic inflammatory symptoms of redness, warmth, and swelling in the affected area.",NINDS,Complex Regional Pain Syndrome +What are the treatments for Complex Regional Pain Syndrome ?,"Because there is no cure for CRPS, treatment is aimed at relieving painful symptoms. Doctors may prescribe topical analgesics, antidepressants, corticosteroids, and opioids to relieve pain. However, no single drug or combination of drugs has produced consistent long-lasting improvement in symptoms. Other treatments may include physical therapy, sympathetic nerve block, spinal cord stimulation, and intrathecal drug pumps to deliver opioids and local anesthetic agents via the spinal cord.",NINDS,Complex Regional Pain Syndrome +What is the outlook for Complex Regional Pain Syndrome ?,"The prognosis for CRPS varies from person to person. Spontaneous remission from symptoms occurs in certain individuals. Others can have unremitting pain and crippling, irreversible changes in spite of treatment.",NINDS,Complex Regional Pain Syndrome +what research (or clinical trials) is being done for Complex Regional Pain Syndrome ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. NINDS-supported scientists are studying new approaches to treat CRPS and intervene more aggressively after traumatic injury to lower the chances of developing the disorder. Researchers hope to identify specific cellular and molecular changes in sensory neurons following peripheral nerve injury to better understand the processes that underlie neuroplasticity (the brains ability to reorganize or form new nerve connections and pathways following injury or death of nerve cells). Identifying these mechanisms could provide targets for new drug therapies that could improve recovery following regeneration. Other researchers hope to better understand how CRPS develops by studying immune system activation and peripheral nerve signaling using an animal model of the disorder.,NINDS,Complex Regional Pain Syndrome +What is (are) Iniencephaly ?,"Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and spinal cord) during fetal development. Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe. In iniencephaly, the defect results in extreme retroflexion (backward bending) of the head combined with severe distortion of the spine. Diagnosis is made immediately after birth because an infants head is so severely bent backward that the face looks upward. In most infants the neck is absent and the skin of the face is connected directly to the skin of the chest, while the scalp is directly connected to the skin of the back. Most infants with iniencephaly have additional birth defects, such as anencephaly (in which major sections of the brain fail to form), cephalocele (in which part of the cranial contents protrudes from the skull), and cyclopia (in which the two cavities of the eyes fuse into one). Additional birth defects include the lack of a lower jaw bone or a cleft lip and palate. Other parts of the body may be affected, and infants can have cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations. For reasons that are still unknown, the disorder is more common among females. No single gene has been identified as the cause for iniencephaly, or any of the neural tube defects. Scientists think these defects have complex causes, mostly likely a mix of genetic and environmental factors.",NINDS,Iniencephaly +What are the treatments for Iniencephaly ?,"There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. Pregnant women should avoid taking antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, which have been shown to be associated with an increased risk of neural tube defects. Maternal obesity and diabetes are also known to increase the risk for these disorders.",NINDS,Iniencephaly +What is the outlook for Iniencephaly ?,The prognosis for infants with iniencephaly is extremely poor. Newborns seldom survive much past childbirth. The distortions of the babys body also pose a danger to the mother's life during delivery.,NINDS,Iniencephaly +what research (or clinical trials) is being done for Iniencephaly ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to iniencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of neural tube development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent iniencephaly and the other neural tube defects.,NINDS,Iniencephaly +What is (are) Autism ?,"Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). + +Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when more debilitating handicaps mask it. Scientists arent certain what causes autism, but its likely that both genetics and environment play a role.",NINDS,Autism +What are the treatments for Autism ?,"There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of individual children. Treatment options include educational/bahavioral interventions, medications, and other therapies. Most professionals agree that the earlier the intervention, the better.",NINDS,Autism +What is the outlook for Autism ?,"For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed. People with an ASD usually continue to need services and support as they get older but many are able to work successfully and live independently or within a supportive environment.",NINDS,Autism +what research (or clinical trials) is being done for Autism ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. As part of the Childrens Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate NIHs autism research. As part of the Childrens Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate NIHs autism research. Eight dedicated research centers across the country have been established as Centers of Excellence in Autism Research to bring together researchers and the resources they need. The Centers are conducting basic and clinical research, including investigations into causes, diagnosis, early detection, prevention, and treatment of autism.",NINDS,Autism +What is (are) Leigh's Disease ?,"Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. + +In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions. + +There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.",NINDS,Leigh's Disease +What are the treatments for Leigh's Disease ?,"The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leighs disease, a high-fat, low-carbohydrate diet may be recommended.",NINDS,Leigh's Disease +What is the outlook for Leigh's Disease ?,"The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.",NINDS,Leigh's Disease +what research (or clinical trials) is being done for Leigh's Disease ?,"The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.",NINDS,Leigh's Disease +What is (are) Asperger Syndrome ?,"Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Unlike children with autism, children with AS retain their early language skills. + +The most distinguishing symptom of AS is a childs obsessive interest in a single object or topic to the exclusion of any other. Children with AS want to know everything about their topic of interest and their conversations with others will be about little else. Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of AS include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behavior and the inability to interact successfully with peers; problems with non-verbal communication; and clumsy and uncoordinated motor movements. + +Children with AS are isolated because of their poor social skills and narrow interests. They may approach other people, but make normal conversation impossible by inappropriate or eccentric behavior, or by wanting only to talk about their singular interest.Children with AS usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment. They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.",NINDS,Asperger Syndrome +What are the treatments for Asperger Syndrome ?,"The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness. There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better. + +An effective treatment program builds on the childs interests, offers a predictable schedule, teaches tasks as a series of simple steps, actively engages the childs attention in highly structured activities, and provides regular reinforcement of behavior. It may include social skills training, cognitive behavioral therapy, medication for co-existing conditions, and other measures.",NINDS,Asperger Syndrome +What is the outlook for Asperger Syndrome ?,"With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.",NINDS,Asperger Syndrome +what research (or clinical trials) is being done for Asperger Syndrome ?,"Many of the Institutes at the NIH, including the NINDS, are sponsoring research to understand what causes AS and how it can be effectively treated. One study is using functional magnetic resonance imaging (fMRI) to show how abnormalities in particular areas of the brain cause changes in brain function that result in the symptoms of AS and other ASDs.Other studies include aclinical trial testing the effectiveness of an anti-depressant in individuals with AS and HFA who exhibit high levels of obsessive/ritualistic behavior and a long-range study to collect and analyze DNA samples from a large group of children with AS and HFA and their families to identify genes and genetic interactions that are linked to AS and HFA.",NINDS,Asperger Syndrome +What is (are) Troyer Syndrome ?,"Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins. The disease was first observed in Amish families in Ohio. Diagnosis is made by specialized genetic testing.",NINDS,Troyer Syndrome +What are the treatments for Troyer Syndrome ?,There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking.,NINDS,Troyer Syndrome +What is the outlook for Troyer Syndrome ?,"Prognosis varies, although the disease is progressive. Some patients may have a mild form of the disease while others eventually lose the ability to walk normally. Troyer syndrome does not shorten the normal life span.",NINDS,Troyer Syndrome +what research (or clinical trials) is being done for Troyer Syndrome ?,"The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders.",NINDS,Troyer Syndrome +What is (are) Tourette Syndrome ?,"Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.",NINDS,Tourette Syndrome +What are the treatments for Tourette Syndrome ?,"Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with TS.",NINDS,Tourette Syndrome +What is the outlook for Tourette Syndrome ?,"Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.",NINDS,Tourette Syndrome +what research (or clinical trials) is being done for Tourette Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies.",NINDS,Tourette Syndrome +What is (are) Multiple Sclerosis ?,"An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. + +Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or ""pins and needles"" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS.",NINDS,Multiple Sclerosis +What are the treatments for Multiple Sclerosis ?,"There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment, Novantrone (mitoxantrone), isapproved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS. + +One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drugs manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians. + +While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used.",NINDS,Multiple Sclerosis +What is the outlook for Multiple Sclerosis ?,"A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.",NINDS,Multiple Sclerosis +what research (or clinical trials) is being done for Multiple Sclerosis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models. + +In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: ""Multiple Sclerosis: Current Status and Strategies for the Future.""",NINDS,Multiple Sclerosis +What is (are) Muscular Dystrophy ?,"The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.",NINDS,Muscular Dystrophy +What are the treatments for Muscular Dystrophy ?,"There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.",NINDS,Muscular Dystrophy +What is the outlook for Muscular Dystrophy ?,"The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.",NINDS,Muscular Dystrophy +what research (or clinical trials) is being done for Muscular Dystrophy ?,"The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder. + +The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit: http://www.ninds.nih.gov/about_ninds/groups/mdcc/",NINDS,Muscular Dystrophy +What is (are) Hypertonia ?,"Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. + +Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become ""frozen,"" which doctors call a joint contracture. + +Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. + +Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.",NINDS,Hypertonia +What are the treatments for Hypertonia ?,"Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. People with hypertonia should try to preserve as much movement as possibly by exercising within their limits and using physical therapy. + +Drugs that affect the dopamine system (dopamine is a chemical in the brain) such as levodopa/carbidopa, or entacapone, are often used to treat the rigidity associated with Parkinson's disease.",NINDS,Hypertonia +What is the outlook for Hypertonia ?,"The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. If there is moderate hypertonia, falls or joint contractures may have an impact on a person's health and safety. If the hypertonia is so severe that is caused immobility, potential consequences include increased bone fragility and fracture, infection, bed sores, and pneumonia.",NINDS,Hypertonia +what research (or clinical trials) is being done for Hypertonia ?,NINDS supports research on brain and spinal cord disorders that can cause hypertonia. The goals of this research are to learn more about how the nervous system adapts after injury or disease and to find ways to prevent and treat these disorders.,NINDS,Hypertonia +What is (are) Migraine ?,"The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. Migraine is three times more common in women than in men and affects more than 10 percent of people worldwide. Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an ""aura,"" visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause.",NINDS,Migraine +What are the treatments for Migraine ?,"There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. Drugs originally developed for epilepsy, depression, or high blood pressure to prevent future attacks have been shown to be extremely effective in treating migraine. Botulinum toxin A has been shown to be effective in prevention of chronic migraine. Behaviorally, stress management strategies, such as exercise, relaxation techniques, biofeedback mechanisms, and other therapies designed to limit daily discomfort, may reduce the number and severity of migraine attacks. Making a log of personal triggers of migraine can also provide useful information for trigger-avoiding lifestyle changes, including dietary considerations, eating regularly scheduled meals with adequate hydration, stopping certain medications, and establishing a consistent sleep schedule. Hormone therapy may help some women whose migraines seem to be linked to their menstrual cycle. A weight loss program is recommended for obese individuals with migraine. + +Relief of symptoms, or acute treatments, during attacks consists of sumatriptan, ergotamine drugs, and analgesics such as ibuprofen and aspirin. The sooner these treatments are administered, the more effective they are.",NINDS,Migraine +What is the outlook for Migraine ?,"Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. Women whose migraine attacks occur in association with their menstrual cycle are likely to have fewer attacks and milder symptoms after menopause.",NINDS,Migraine +what research (or clinical trials) is being done for Migraine ?,"Researchers believe that migraine is the result of fundamental neurological abnormalities caused by genetic mutations at work in the brain. New models are aiding scientists in studying the basic science involved in the biological cascade, genetic components and mechanisms of migraine. Understanding the causes of migraine as well as the events that effect them will give researchers the opportunity to develop and test drugs that could be more targeted to preventing or interrupting attacks entirely. Therapies currently being tested for their effectiveness in treating migraine include magnesium, coenzyme Q10, vitamin B12, riboflavin, fever-few, and butterbur. + +In 2010, a team of researchers found a common mutation in the gene TRESK which contains instructions for a certain potassium ion channel. Potassium channels are important for keeping a nerve cell at rest and mutations in them can lead to overactive cells that respond to much lower levels of pain. Large genetic analyses similar to the one used to identify TRESK will most likely lead to the identification of a number of other genes linked to migraine.",NINDS,Migraine +What is (are) Brown-Sequard Syndrome ?,"Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis.",NINDS,Brown-Sequard Syndrome +What are the treatments for Brown-Sequard Syndrome ?,Generally treatment for individuals with BSS focuses on the underlying cause of the disorder. Early treatment with high-dose steroids may be beneficial in many cases. Other treatment is symptomatic and supportive.,NINDS,Brown-Sequard Syndrome +What is the outlook for Brown-Sequard Syndrome ?,The prognosis for individuals with BSS varies depending on the cause of the disorder.,NINDS,Brown-Sequard Syndrome +what research (or clinical trials) is being done for Brown-Sequard Syndrome ?,"The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders.",NINDS,Brown-Sequard Syndrome +What is (are) Syncope ?,"Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly. + +Vasovagal + +Carotid sinus + +Situational",NINDS,Syncope +What are the treatments for Syncope ?,"The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease.",NINDS,Syncope +What is the outlook for Syncope ?,"Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.",NINDS,Syncope +what research (or clinical trials) is being done for Syncope ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat syncope.,NINDS,Syncope +What is (are) Mitochondrial Myopathy ?,"Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' ""power plants."" Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.",NINDS,Mitochondrial Myopathy +What are the treatments for Mitochondrial Myopathy ?,"Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.",NINDS,Mitochondrial Myopathy +What is the outlook for Mitochondrial Myopathy ?,"The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.",NINDS,Mitochondrial Myopathy +what research (or clinical trials) is being done for Mitochondrial Myopathy ?,"The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.",NINDS,Mitochondrial Myopathy +What is (are) Wilson Disease ?,"Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologists slit lamp. The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms are neurological, occur later in adulthood, and commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.",NINDS,Wilson Disease +What are the treatments for Wilson Disease ?,"WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine are copper chelators that increase urinary excretion of copper; however, both drugs have some side effects. Tetrathiomolybdate is an investigational copper chelating drug with a lower toxicity profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness arent known. A low-copper diet is also recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.",NINDS,Wilson Disease +What is the outlook for Wilson Disease ?,"Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.",NINDS,Wilson Disease +what research (or clinical trials) is being done for Wilson Disease ?,"The National Institute of Neurological Disorders and Stroke, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and other institutes of the National Institutes of Health (NIH) conduct and/or support research related to Wilson disease. Growing knowledge of the copper transporting gene ATP7B, which in its mutated form causes WD, should lead to the design of better therapies for this disorder.",NINDS,Wilson Disease +What is (are) Aicardi Syndrome ?,"Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra ""X"" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. + +Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3) chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. + +Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. + +(Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)",NINDS,Aicardi Syndrome +What are the treatments for Aicardi Syndrome ?,There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended.,NINDS,Aicardi Syndrome +What is the outlook for Aicardi Syndrome ?,"The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk for death in childhood and adolescence, but survivors into adulthood have been described.",NINDS,Aicardi Syndrome +what research (or clinical trials) is being done for Aicardi Syndrome ?,"The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome.",NINDS,Aicardi Syndrome +What is (are) Holoprosencephaly ?,"Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. + +There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal. + +The least severe of the facial anomalies is the median cleft lip (premaxillary agenesis). The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. The least common facial anomaly is ethmocephaly, in which a proboscis separates closely-set eyes. Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely-set eyes.",NINDS,Holoprosencephaly +What are the treatments for Holoprosencephaly ?,There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.,NINDS,Holoprosencephaly +What is the outlook for Holoprosencephaly ?,The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.,NINDS,Holoprosencephaly +what research (or clinical trials) is being done for Holoprosencephaly ?,"The NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder.",NINDS,Holoprosencephaly +What is (are) Hemifacial Spasm ?,"Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. It is much more common in the Asian population. The first symptom is usually an intermittent twitching of the eyelid muscle that can lead to forced closure of the eye. The spasm may then gradually spread to involve the muscles of the lower face, which may cause the mouth to be pulled to one side. Eventually the spasms involve all of the muscles on one side of the face almost continuously. The condition may be caused by a facial nerve injury, or a tumor, or it may have no apparent cause. Rarely, doctors see individuals with spasm on both sides of the face. Most often hemifacial spasm is caused by a blood vessel pressing on the facial nerve at the place where it exits the brainstem.",NINDS,Hemifacial Spasm +What are the treatments for Hemifacial Spasm ?,"Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. Other treatments include injections of botulinum toxin into the affected areas, which is the most effective therapy and the only one used in most cases. Drug therapy is generally not effective.",NINDS,Hemifacial Spasm +What is the outlook for Hemifacial Spasm ?,"The prognosis for an individual with hemifacial spasm depends on the treatment and their response. Some individuals will become relatively free from symptoms with injection therapy. Some may require surgery. In most cases, a balance can be achieved, with tolerable residual symptoms.",NINDS,Hemifacial Spasm +what research (or clinical trials) is being done for Hemifacial Spasm ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research related to hemifacial spams through grants to major research institutions across the country. Much of this research focuses on better ways to prevent, treat, and ultimately cure neurological disorders, such as hemifacial spasm.",NINDS,Hemifacial Spasm +What is (are) Learning Disabilities ?,"Learning disabilities are disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct attention. Although learning disabilities occur in very young children, the disorders are usually not recognized until the child reaches school age. Research shows that 8 to 10 percent of American children under 18 years of age have some type of learning disability.",NINDS,Learning Disabilities +What are the treatments for Learning Disabilities ?,"The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skills by building on the child's abilities and strengths while correcting and compensating for disabilities and weaknesses. Other professionals such as speech and language therapists also may be involved. Some medications may be effective in helping the child learn by enhancing attention and concentration. Psychological therapies may also be used.",NINDS,Learning Disabilities +What is the outlook for Learning Disabilities ?,"Learning disabilities can be lifelong conditions. In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives.",NINDS,Learning Disabilities +what research (or clinical trials) is being done for Learning Disabilities ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis.,NINDS,Learning Disabilities +What is (are) Kennedy's Disease ?,"Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. + +Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.",NINDS,Kennedy's Disease +What are the treatments for Kennedy's Disease ?,Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.,NINDS,Kennedy's Disease +What is the outlook for Kennedy's Disease ?,"Kennedy's disease is slowly progressive. Individuals tend to remain ambulatory until late in the disease, although some may be wheelchair-bound during later stages. The life span of individuals with Kennedy's disease is usually normal.",NINDS,Kennedy's Disease +what research (or clinical trials) is being done for Kennedy's Disease ?,"The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them.",NINDS,Kennedy's Disease +What is (are) Neurosarcoidosis ?,"Neurosarcoidosis is a manifestation of sarcoidosis in the nervous system. Sarcoidosis is a chronic inflammatory disorder that typically occurs in adults between 20 and 40 years of age and primarily affects the lungs, but can also impact almost every other organ and system in the body. Neurosarcoidosis is characterized by inflammation and abnormal cell deposits in any part of the nervous system the brain, spinal cord, or peripheral nerves. It most commonly occurs in the cranial and facial nerves, the hypothalamus (a specific area of the brain), and the pituitary gland. It is estimated to develop in 5 to 15 percent of those individuals who have sarcoidosis. Weakness of the facial muscles on one side of the face (Bells palsy) is a common symptom of neurosarcoidosis. The optic and auditory nerves can also become involved, causing vision and hearing impairments. It can cause headache, seizures, memory loss, hallucinations, irritability, agitation, and changes in mood and behavior. Neurosarcoidosis can appear in an acute, explosive fashion or start as a slow chronic illness. Because neurosarcoidosis manifests in many different ways, a diagnosis may be difficult and delayed.",NINDS,Neurosarcoidosis +What are the treatments for Neurosarcoidosis ?,"There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive drugs such as methotrexate, azathioprine, cyclosporin, and cyclophosphamide, have benefited some individuals. While the use of corticosteroids and other immunosuppressive drugs is effective, these medications also have undesirable side effects. Side effects and experience with certain drugs may play a role in medication choices.",NINDS,Neurosarcoidosis +What is the outlook for Neurosarcoidosis ?,"The prognosis for patients with neurosarcoidosis varies. Approximately two-thirds of those with the condition will recover completely; the remainder will have a chronically progressing or on-and-off course of illness. Complications resulting from immunosuppressive treatments, such as cryptococcal and tuberculous meningitis, progressive multifocal leukoencephalopathy, and inclusion body myositis, may be fatal for a small percentage of individuals.",NINDS,Neurosarcoidosis +what research (or clinical trials) is being done for Neurosarcoidosis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) has joined with other institutes of the National Institutes of Health (NIH) to form a trans-NIH working group to coordinate and fund research into the disease mechanisms of sarcoidosis, predisposing factors, genetic underpinnings, and the potential for clinical therapies. Grants are supporting research at major medical institutions across the country. The outcomes of this research will be better ways to diagnose, treat, and ultimately cure sarcoidosis and neurosarcardoisis.",NINDS,Neurosarcoidosis +What is (are) Pituitary Tumors ?,"The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body; however they can make the pituitary gland produce either too many or too few hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. Tumors that dont make hormones are called non-functioning tumors. Their symptoms are directly related to their growth in size and include headaches, vision problems, nausea, and vomiting. Diseases related to hormone abnormalities include Cushings disease, in which fat builds up in the face, back and chest, and the arms and legs become very thin; and acromegaly, a condition in which the hands, feet, and face are larger than normal. Pituitary hormones that impact the sex hormones, such as estrogen and testosterone, can make a woman produce breast milk even though she is not pregnant or nursing, or cause a man to lose his sex drive or lower his sperm count. Pituitary tumors often go undiagnosed because their symptoms resemble those of so many other more common diseases.",NINDS,Pituitary Tumors +What are the treatments for Pituitary Tumors ?,"Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individuals age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. Medications are also sometimes used to block the tumor from overproducing hormones. For some people, removing the tumor will also stop the pituitarys ability to produce a specific hormone. These individuals will have to take synthetic hormones to replace the ones their pituitary gland no longer produces.",NINDS,Pituitary Tumors +What is the outlook for Pituitary Tumors ?,"If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a good prognosis.",NINDS,Pituitary Tumors +what research (or clinical trials) is being done for Pituitary Tumors ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors.",NINDS,Pituitary Tumors +What is (are) Neurodegeneration with Brain Iron Accumulation ?,"Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA.",NINDS,Neurodegeneration with Brain Iron Accumulation +What are the treatments for Neurodegeneration with Brain Iron Accumulation ?,"There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis), deep brain stimulation, and botulinum toxin injection.",NINDS,Neurodegeneration with Brain Iron Accumulation +What is the outlook for Neurodegeneration with Brain Iron Accumulation ?,"NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood. For those with atypical, late-onset NBIA, many are diagnosed as adults and live well into adulthood.",NINDS,Neurodegeneration with Brain Iron Accumulation +what research (or clinical trials) is being done for Neurodegeneration with Brain Iron Accumulation ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded researchers are developing a mouse model of an NBIA disorder to gain insight into the causes of the disease and accelerate ongoing efforts to identify therapeutics to treat it..",NINDS,Neurodegeneration with Brain Iron Accumulation +What is (are) Frontotemporal Dementia ?,"Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Picks disease, the name and classification of FTD has been a topic of discussion for over a century. The current designation of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. These designations will continue to be debated. As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language. The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation. The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral types symptoms. Spatial skills and memory remain intact. There is a strong genetic component to the disease; FTD often runs in families.",NINDS,Frontotemporal Dementia +What are the treatments for Frontotemporal Dementia ?,"No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants have been shown to improve some symptoms.",NINDS,Frontotemporal Dementia +What is the outlook for Frontotemporal Dementia ?,"The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting.",NINDS,Frontotemporal Dementia +what research (or clinical trials) is being done for Frontotemporal Dementia ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to FTD in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country.",NINDS,Frontotemporal Dementia +What is (are) Agenesis of the Corpus Callosum ?,"Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent. It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity. Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual. Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. It is estimated that at lease one in 4,000 individuals has a disorder of the corpus callosum.",NINDS,Agenesis of the Corpus Callosum +What are the treatments for Agenesis of the Corpus Callosum ?,"There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur. Associated difficulties are much more manageable with early recognition and therapy, especially therapies focusing on left/right coordination. Early diagnosis and interventions are currently the best treatments to improve social and developmental outcomes.",NINDS,Agenesis of the Corpus Callosum +What is the outlook for Agenesis of the Corpus Callosum ?,"Prognosis depends on the extent and severity of malformations. Intellectual impairment does not worsen. Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (such as swimming, bicycle riding, and driving; and mental and social processing problems that become more apparent with age, with problems particularly evident from junior high school into adulthood.",NINDS,Agenesis of the Corpus Callosum +what research (or clinical trials) is being done for Agenesis of the Corpus Callosum ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. NINDS-funded research includes studies to understand the genetic causes of ACC, as well as to understand how magnetic resonance imaging findings may help predict outcome and response to therapy.",NINDS,Agenesis of the Corpus Callosum +What is (are) Neuroaxonal dystrophy ?,"Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.",NINDS,Neuroaxonal dystrophy +What are the treatments for Neuroaxonal dystrophy ?,"There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort.",NINDS,Neuroaxonal dystrophy +What is the outlook for Neuroaxonal dystrophy ?,"INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired. Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings. Death usually occurs between the ages of 5 to 10 years.",NINDS,Neuroaxonal dystrophy +what research (or clinical trials) is being done for Neuroaxonal dystrophy ?,"Researchers continue to search for the defective gene that causes INAD in hopes of developing drugs that can stop the disease. The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as INAD.",NINDS,Neuroaxonal dystrophy +What is (are) Inclusion Body Myositis ?,"Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. Muscle weakness may affect only one side of the body. Falling and tripping are usually the first noticeable symptoms of IBM. For some individuals, the disorder begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects. There may be weakness of the wrist and finger muscles and atrophy (thinning or loss of muscle bulk) of the forearm muscles and quadricep muscles in the legs. Difficulty swallowing occurs in approximately half of IBM cases. Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. IBM occurs more frequently in men than in women.",NINDS,Inclusion Body Myositis +What are the treatments for Inclusion Body Myositis ?,"There is no cure for IBM, nor is there a standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. Physical therapy may be helpful in maintaining mobility. Other therapy is symptomatic and supportive.",NINDS,Inclusion Body Myositis +What is the outlook for Inclusion Body Myositis ?,IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.,NINDS,Inclusion Body Myositis +what research (or clinical trials) is being done for Inclusion Body Myositis ?,"The National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Environmental Health Sciences (NIEHS) and other institutes of the National Institutes of Health (NIH) conduct research relating to IBM in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",NINDS,Inclusion Body Myositis +What is (are) Olivopontocerebellar Atrophy ?,"Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain the cerebellum, pons, and inferior olives. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. http://www.ninds.nih.gov/disorders/msa/msa.htm + +OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.",NINDS,Olivopontocerebellar Atrophy +What are the treatments for Olivopontocerebellar Atrophy ?,"There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical therapist may be helpful in establishing a routine of exercise and stretching, and in obtaining devices or appliances to assist in walking and other daily activities.",NINDS,Olivopontocerebellar Atrophy +What is the outlook for Olivopontocerebellar Atrophy ?,There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset.,NINDS,Olivopontocerebellar Atrophy +what research (or clinical trials) is being done for Olivopontocerebellar Atrophy ?,"The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found.",NINDS,Olivopontocerebellar Atrophy +What is (are) Postural Tachycardia Syndrome ?,"Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting. In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising. The faintness or lightheadedness of POTS are relieved by lying down again. Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age. Some women report an increase in episodes of POTS right before their menstrual periods. POTS often begins after a pregnancy, major surgery, trauma, or a viral illness. It may make individuals unable to exercise because the activity brings on fainting spells or dizziness. + +Doctors aren't sure yet what causes the reduced return of blood to the heart that occurs in OI, or why the heart begins to beat so rapidly in POTS. Current thinking is that there are a number of mechanisms. Some individuals have peripheral denervation (neuropathic POTS); some have symptoms that are due to sustained or parosyxmal overactivity of the sympathetic nervous system (hyperadrenergic POTS); and many individuals with POTS have significant deconditioning.",NINDS,Postural Tachycardia Syndrome +What are the treatments for Postural Tachycardia Syndrome ?,Therapies for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain. Simple interventions such as adding extra salt to the diet and attention to adequate fluid intake are often effective. The drugs fludrocortisone (for those on a high salt diet) and midodrine in low doses are often used to increase blood volume and narrow blood vessels. Drinking 16 ounces of water (2 glassfuls) before getting up can also help raise blood pressure. Some individuals are helped by beta receptor blocking agents. There is some evidence that an exercise program can gradually improve orthostatic tolerance.,NINDS,Postural Tachycardia Syndrome +What is the outlook for Postural Tachycardia Syndrome ?,"POTS may follow a relapsing-remitting course, in which symptoms come and go, for years. In most cases (approximately 80 percent), an individual with POTS improves to some degree and becomes functional, although some residual symptoms are common.",NINDS,Postural Tachycardia Syndrome +what research (or clinical trials) is being done for Postural Tachycardia Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as POTS. NINDS-funded researchers are investigating if low levels of the hormone aldosterone contribute to low blood volume in individuals with POTS, and if high levels of angiotensin II, a peptide that helps regulate blood volume, leads to decreased adrenal sensitivity. Other NINDS-funded research is investigating the hypothesis that POTS is a syndrome of different subtypes, with different underlying mechanisms. Additionally, the NINDS funds the Autonomic Rare Diseases Consortium to further understand disorders such as orthostatic hypotension and hopefully alter the course of disease.",NINDS,Postural Tachycardia Syndrome +What is (are) Mucolipidoses ?,"The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities. + +The group includes four diseases: + +- Mucolipidosis I (sialidosis) - Mucolipidosis II (inclusion-cell, or I-cell, disease) - Mucolipidosis III (pseudo-Hurler polydystrophy) - Mucolipidosis IV + +The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs. + +The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.",NINDS,Mucolipidoses +What are the treatments for Mucolipidoses ?,"No cures or specific therapies for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye. However, this improvement may be only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy. Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. Respiratory infections should be treated immediately and fully with antibiotics.",NINDS,Mucolipidoses +What is the outlook for Mucolipidoses ?,"Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.",NINDS,Mucolipidoses +what research (or clinical trials) is being done for Mucolipidoses ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.",NINDS,Mucolipidoses +What is (are) Trigeminal Neuralgia ?,"Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The painseldomlasts more than a few seconds or a minute or twoper episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years. In the days before an episode begins, some patients may experience a tingling or numbing sensation or a somewhat constant and aching pain. The attacks often worsen over time, with fewer and shorter pain-free periods before they recur. The intense flashes of pain can be triggered by vibration or contact with the cheek (such as when shaving, washing the face, or applying makeup), brushing teeth, eating, drinking, talking, or being exposed to the wind. TN occurs most often in people over age 50, but it can occur at any age, and is more common in women than in men. There is some evidence that the disorder runs in families, perhaps because of an inherited pattern of blood vessel formation. Although sometimes debilitating, the disorder is not life-threatening. + +The presumed cause of TN is a blood vessel pressing on the trigeminal nerve in the head as it exits the brainstem. TN may be part of the normal aging process but in some cases it is the associated with another disorder, such as multiple sclerosis or other disorders characterized by damage to the myelin sheath that covers certain nerves.",NINDS,Trigeminal Neuralgia +What are the treatments for Trigeminal Neuralgia ?,"Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by TN. If medication fails to relieve pain or produces intolerable side effects such as excess fatigue, surgical treatment may be recommended. Several neurosurgical procedures are available. Some are done on an outpatient basis, while others are more complex and require hospitalization. Some patients choose to manage TN using complementary techniques, usually in combination with drug treatment. These techniques include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves.",NINDS,Trigeminal Neuralgia +What is the outlook for Trigeminal Neuralgia ?,"The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.",NINDS,Trigeminal Neuralgia +what research (or clinical trials) is being done for Trigeminal Neuralgia ?,"Within the NINDS research programs, trigeminal neuralgia is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as trigeminal neuralgia. NINDS has notified research investigators that it is seeking grant applications both in basic and clinical pain research.",NINDS,Trigeminal Neuralgia +What is (are) Thoracic Outlet Syndrome ?,"TOS is an umbrella term that encompasses three related syndromes that involve compression of the nerves, arteries, and veins in the lower neck and upper chest area and cause pain in the arm, shoulder, and neck. Most doctors agree that TOS is caused by compression of the brachial plexus or subclavian vessels as they pass through narrow passageways leading from the base of the neck to the armpit and arm, but there is considerable disagreement about its diagnosis and treatment. Making the diagnosis of TOS even more difficult is that a number of disorders feature symptoms similar to those of TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. The disorder can sometimes be diagnosed in a physical exam by tenderness in the supraclavicular area, weakness and/or a ""pins and needles"" feeling when elevating the hands, weakness in the fifth (""little"") finger, and paleness in the palm of one or both hands when the individual raises them above the shoulders, with the fingers pointing to the ceiling. Symptoms of TOS vary depending on the type. Neurogenic TOS has a characteristic sign, called the Gilliatt-Sumner hand, in which there is severe wasting in the fleshy base of the thumb. Other symptoms include paresthesias (pins and needles sensation or numbness) in the fingers and hand, change in hand color, hand coldness, or dull aching pain in the neck, shoulder, and armpit. Venous TOS features pallor, a weak or absent pulse in the affected arm, which also may be cool to the touch and appear paler than the unaffected arm. Symptoms may include numbness, tingling, aching, swelling of the extremity and fingers, and weakness of the neck or arm.. Arterial TOS most prominently features change in color and cold sensitivity in the hands and fingers, swelling, heaviness, paresthesias and poor blood circulation in the arms, hands, and fingers.. + +There are many causes of TOS, including physical trauma, anatomical defects, tumors that press on nerves, poor posture that causes nerve compression, pregnancy, and repetitive arm and shoulder movements and activity, such as from playing certain sports. TOS is more common in women. The onset of symptoms usually occurs between 20 and 50 years of age. Doctors usually recommend nerve conduction studies, electromyography, or imaging studies to confirm or rule out a diagnosis of TOS.",NINDS,Thoracic Outlet Syndrome +What are the treatments for Thoracic Outlet Syndrome ?,"Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. Other medicines include thromobolytics to break up blood clots and anticoagulants to prevent clots. If this doesn't relieve pain, a doctor may recommend thoracic outlet decompression surgery to release or remove the structures causing compression of the nerve or artery.",NINDS,Thoracic Outlet Syndrome +What is the outlook for Thoracic Outlet Syndrome ?,"The outcome for individuals with TOS varies according to type. The majority of individuals with TOS will improve with exercise and physical therapy. Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the affected vessel or nerve.",NINDS,Thoracic Outlet Syndrome +what research (or clinical trials) is being done for Thoracic Outlet Syndrome ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health support research in TOS through grants to major medical research institutions across the country. Much of this research focuses on finding better ways to diagnose and treat TOS.,NINDS,Thoracic Outlet Syndrome +What is (are) Subacute Sclerosing Panencephalitis ?,"Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. The incidence of SSPE declined by at least 90 percent in countries that have practiced widespread immunization with measles vaccine. The incidence of SSPE is still high in developing countries such as India and Eastern Europe. There is a higher incidence among males than females (male/female: 3/1). Most youngsters with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers think that the infection of the brain occurs soon after the primary bout with measles and progresses slowly. Why it persists and progresses still isn't clear. The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function, including uncontrollable involuntary jerking movements of the head, trunk or limbs called myoclonic jerks. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk, as their muscles stiffen or spasm. There is progressive deterioration to a comatose state, and then to a persistent vegetative state. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.",NINDS,Subacute Sclerosing Panencephalitis +What are the treatments for Subacute Sclerosing Panencephalitis ?,"Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, and eventual outcome, are unknown. Good nursing care is the most important aspect of treatment for SSPE, along with anticonvulsant and antispasmodic drugs when needed.",NINDS,Subacute Sclerosing Panencephalitis +What is the outlook for Subacute Sclerosing Panencephalitis ?,"Most individuals with SSPE will die within 1 to 3 years of diagnosis. In a small percentage of people, the disease will progress rapidly, leading to death over a short course within three months of diagnosis. Another small group will have a chronic, slowly progressive form, some with relapses and remissions. A very small number (approximately 5 percent) may experience spontaneous long term improvement and regain lost function. Prevention, in the form of measles vaccination, is the only real ""cure"" for SSPE.",NINDS,Subacute Sclerosing Panencephalitis +what research (or clinical trials) is being done for Subacute Sclerosing Panencephalitis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to SSPE in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure SSPE.",NINDS,Subacute Sclerosing Panencephalitis +What is (are) Back Pain ?,"Acute or short-term low back pain generally lasts from a few days to a few weeks. Most acute back pain is the result of trauma to the lower back or a disorder such as arthritis. Pain from trauma may be caused by a sports injury, work around the house or in the garden, or a sudden jolt such as a car accident or other stress on spinal bones and tissues. Symptoms may range from muscle ache to shooting or stabbing pain, limited flexibility and range of motion, or an inability to stand straight. Chronic back pain is pain that persists for more than 3 months. It is often progressive and the cause can be difficult to determine.",NINDS,Back Pain +What are the treatments for Back Pain ?,"Most low back pain can be treated without surgery. Treatment involves using over-the-counter pain relievers to reduce discomfort and anti-inflammatory drugs to reduce inflammation. The goal of treatment is to restore proper function and strength to the back, and prevent recurrence of the injury. Medications are often used to treat acute and chronic low back pain. Effective pain relief may involve a combination of prescription drugs and over-the-counter remedies. Although the use of cold and hot compresses has never been scientifically proven to quickly resolve low back injury, compresses may help reduce pain and inflammation and allow greater mobility for some individuals. Bed rest is recommended for only 12 days at most. Individuals should resume activities as soon as possible. Exercise may be the most effective way to speed recovery from low back pain and help strengthen back and abdominal muscles. In the most serious cases, when the condition does not respond to other therapies, surgery may relieve pain caused by back problems or serious musculoskeletal injuries.",NINDS,Back Pain +What is the outlook for Back Pain ?,"Most patients with back pain recover without residual functional loss, but individuals should contact a doctor if there is not a noticeable reduction in pain and inflammation after 72 hours of self-care. Recurring back pain resulting from improper body mechanics or other nontraumatic causes is often preventable. Engaging in exercises that don't jolt or strain the back, maintaining correct posture, and lifting objects properly can help prevent injuries. Many work-related injuries are caused or aggravated by stressors such as heavy lifting, vibration, repetitive motion, and awkward posture. Applying ergonomic principles designing furniture and tools to protect the body from injury at home and in the workplace can greatly reduce the risk of back injury and help maintain a healthy back.",NINDS,Back Pain +what research (or clinical trials) is being done for Back Pain ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct pain research in laboratories at the NIH and also support pain research through grants to major medical institutions across the country. Currently, researchers are examining the use of different drugs to effectively treat back pain, in particular, chronic pain that has lasted at least 6 months. Other studies are comparing different health care approaches to the management of acute low back pain (standard care versus chiropractic, acupuncture, or massage therapy). These studies are measuring symptom relief, restoration of function, and patient satisfaction. Other research is comparing standard surgical treatments to the most commonly used standard nonsurgical treatments to measure changes in health-related quality of life among patients suffering from spinal stenosis.",NINDS,Back Pain +What is (are) Coma ?,"A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. . Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.",NINDS,Coma +What are the treatments for Coma ?,"Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma.",NINDS,Coma +What is the outlook for Coma ?,"The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and more ability to respond. Some individuals never progress beyond very basic responses, but many recover full awareness. Individuals recovering from coma require close medical supervision. A coma rarely lasts more than 2 to 4 weeks. Some patients may regain a degree of awareness after persistent vegetative state. Others may remain in that state for years or even decades. The most common cause of death for someone in a persistent vegetative state is infection, such as pneumonia.",NINDS,Coma +what research (or clinical trials) is being done for Coma ?,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat coma.,NINDS,Coma +What is (are) Neuronal Migration Disorders ?,"Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias (including band heterotopia), agenesis of the corpus callosum, and agenesis of the cranial nerves. Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, impaired cognitive development, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist. Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well-understood. More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.",NINDS,Neuronal Migration Disorders +What are the treatments for Neuronal Migration Disorders ?,"Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.",NINDS,Neuronal Migration Disorders +What is the outlook for Neuronal Migration Disorders ?,The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.,NINDS,Neuronal Migration Disorders +what research (or clinical trials) is being done for Neuronal Migration Disorders ?,The NINDS conducts and supports a wide range of studies that explore the complex systems of brain development. These studies include the identification of the mechanism of action of the known causes of NMD as well as studies to identify further causes of disease. NIH-funded researchers work closely with parental support groups to bring research discoveries directly to patients. The knowledge gained from these studies provides the foundation for understanding abnormal development and offers hope for new ways to treat and prevent NMDs.,NINDS,Neuronal Migration Disorders +What are the complications of Neurological Complications of AIDS ?,"AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma. Other AIDS-related nervous system disorders may be caused by certain cancers or by illnesses that would not otherwise affect people with healthy immune systems. + +Among the most common neurological complications are: AIDS dementia complex, causing symptoms such as encephalitis (inflammation of the brain), behavioral changes, and a gradual decline in cognitive function; central nervous system lymphomas, cancerous tumors that either begin in the brain or result from a cancer that has spread from another site in the body; cryptococcal meningitis; cytomegalovirus infections; herpes virus infections; neuropathy; neurosyphilis; progressive multifocal leukoencephalopathy (PML); and psychological and neuropsychiatric disorders.",NINDS,Neurological Complications of AIDS +What are the treatments for Neurological Complications of AIDS ?,"No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. + +Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other treatments include radiation therapy or chemotherapy to kill or shrink cancerous brain tumors that may be caused by HIV, antifungal or antimalarial drugs to combat certain bacterial infections, and penicillin to treat neurosyphilis. Aggressive antiretroviral therapy is used to treat AIDS dementia complex, PML, and cytomegalovirus encephalitis. HAART, or highly active antiretroviral therapy, combines at least three drugs to reduce the amount of virus circulating in the blood and may also delay the start of some infections.",NINDS,Neurological Complications of AIDS +What is the outlook for Neurological Complications of AIDS ?,The overall prognosis for individuals with AIDS in recent years has improved significantly because of new drugs and treatments. AIDS clinicians often fail to recognize neurological complications of AIDS. Those who suspect they are having neurological complications should be sure to discuss these with their doctor.,NINDS,Neurological Complications of AIDS +what research (or clinical trials) is being done for Neurological Complications of AIDS ?,"Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS.",NINDS,Neurological Complications of AIDS +What is (are) Familial Periodic Paralyses ?,"Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. + +The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.",NINDS,Familial Periodic Paralyses +What are the treatments for Familial Periodic Paralyses ?,"Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.",NINDS,Familial Periodic Paralyses +What is the outlook for Familial Periodic Paralyses ?,"The prognosis for the familial periodic paralyses varies. Chronic attacks may result in progressive weakness that persists between attacks. Some cases respond well to treatment, which can prevent or reverse progressive muscle weakness.",NINDS,Familial Periodic Paralyses +what research (or clinical trials) is being done for Familial Periodic Paralyses ?,"The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.",NINDS,Familial Periodic Paralyses +What is (are) Central Pain Syndrome ?,"Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. The character of the pain associated with this syndrome differs widely among individuals partly because of the variety of potential causes. Central pain syndrome may affect a large portion of the body or may be more restricted to specific areas, such as hands or feet. The extent of pain is usually related to the cause of the CNS injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes, usually cold temperatures. Individuals experience one or more types of pain sensations, the most prominent being burning. Mingled with the burning may be sensations of ""pins and needles;"" pressing, lacerating, or aching pain; and brief, intolerable bursts of sharp pain similar to the pain caused by a dental probe on an exposed nerve. Individuals may have numbness in the areas affected by the pain. The burning and loss of touch sensations are usually most severe on the distant parts of the body, such as the feet or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain.",NINDS,Central Pain Syndrome +What are the treatments for Central Pain Syndrome ?,"Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain.",NINDS,Central Pain Syndrome +What is the outlook for Central Pain Syndrome ?,"Central pain syndrome is not a fatal disorder, but the syndrome causes disabling chronic pain and suffering among the majority of individuals who have it.",NINDS,Central Pain Syndrome +what research (or clinical trials) is being done for Central Pain Syndrome ?,The NINDS vigorously pursues a research program seeking new treatments for chronic pain and nervous system damage. The goals of this research are to develop ways to more effectively treat and potentially reverse debilitating conditions such as central pain syndrome.,NINDS,Central Pain Syndrome +What is (are) Progressive Multifocal Leukoencephalopathy ?,"Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkins disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosis -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness. However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML. The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes. The progression of deficits leads to life-threatening disability and (frequently) death. A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid.",NINDS,Progressive Multifocal Leukoencephalopathy +What are the treatments for Progressive Multifocal Leukoencephalopathy ?,"Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication.",NINDS,Progressive Multifocal Leukoencephalopathy +What is the outlook for Progressive Multifocal Leukoencephalopathy ?,"In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities.",NINDS,Progressive Multifocal Leukoencephalopathy +what research (or clinical trials) is being done for Progressive Multifocal Leukoencephalopathy ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as PML.",NINDS,Progressive Multifocal Leukoencephalopathy +What is (are) Creutzfeldt-Jakob Disease ?,"Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD: sporadic (the most common form, in which people do not have any risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation), and acquired (in which the disease is transmitted by exposure to brain and nervous system tissue, usually through certain medical procedures. A form called variant CJD can be acquired by eating meat from cattle affected by a disease similar to CJD, called bovine spongiform encephalopathy (commonly called mad cow disease). Symptoms of CJD include problems with muscular coordination, personality changes including progressive and severe mental impairment, impaired vision that may lead to blindness, and involuntary muscle jerks called myoclonus. People eventually lose the ability to move and speak and enter a coma. Tests that help in the diagnosis of CJD include electroencephalography (which measures brain waves), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging.. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the person's brain so that it can be examined by a neurologist. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. .",NINDS,Creutzfeldt-Jakob Disease +What are the treatments for Creutzfeldt-Jakob Disease ?,"There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.Intravenous fluids and artificial feeding may be needed in later stages of the disease.",NINDS,Creutzfeldt-Jakob Disease +What is the outlook for Creutzfeldt-Jakob Disease ?,"About 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.",NINDS,Creutzfeldt-Jakob Disease +what research (or clinical trials) is being done for Creutzfeldt-Jakob Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The leading scientific theory at this time maintains that CJD is caused by a type of protein called a prion. The harmless and the infectious forms of the prion protein are nearly identical, but the infectious form takes a different folded shape than the normal protein. Researchers are trying to discover factors that influence prion infectivity and how the disorder damages the brain. Using rodent models of the disease and brain tissue from autopsies, researchers are also trying to develop improved diagnostic tests for CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed.",NINDS,Creutzfeldt-Jakob Disease +What is (are) Giant Axonal Neuropathy ?,"Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age. Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body. The typical symptoms of GAN are clumsiness and muscle weakness that progresses from a waddling gait to a pronounced difficulty in walking. Additional symptoms include numbness or lack of feeling in the arms and legs, seizures, nystagmus (rapid back and forth movement of the eyes), and impaired cognitive development. A characteristic sign of the disease is dull, tightly curled hair that is markedly different from the parents in color and texture. + +Researchers have discovered more than 20 different mutations associated with GAN in a gene, GAN1, which makes a protein called gigaxonin. These mutations disrupt the regulation or production of gigaxonin in the nervous system. As a result, axons, which are the long tails of neurons that allow them to communicate with other nerve cells, swell up with tangled filaments and become abnormally large. Eventually these axons deteriorate and cause problems with movement and sensation since neurons are no longer able to communicate with each other. + +Doctors diagnose GAN by using several tests, including one that measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy (in which a bit of tissue from a peripheral nerve is removed and examined to look for swollen axons). A definitive diagnosis using genetic testing is available on a research basis only. + +GAN is inherited in an autosomal recessive pattern, which means that both parents of a child with GAN have to carry a copy of the mutated gene. Parents, typically, will show no signs of the disease.",NINDS,Giant Axonal Neuropathy +What are the treatments for Giant Axonal Neuropathy ?,"Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. Many children with GAN begin with normal intellectual development and are able to attend a regular school program. Children should be monitored at least once a year to assess their intellectual abilities and to look for the presence of neurological deterioration.",NINDS,Giant Axonal Neuropathy +What is the outlook for Giant Axonal Neuropathy ?,"GAN generally progresses slowly as neurons degenerate and die. Most children have problems with walking in the early stages of the disorder. Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Most children become wheelchair dependent in the second decade of life. Some children may survive into early adulthood.",NINDS,Giant Axonal Neuropathy +what research (or clinical trials) is being done for Giant Axonal Neuropathy ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN.",NINDS,Giant Axonal Neuropathy +What is (are) SUNCT Headache ?,"SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour. + +Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.",NINDS,SUNCT Headache +What are the treatments for SUNCT Headache ?,"These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied.",NINDS,SUNCT Headache +What is the outlook for SUNCT Headache ?,There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort.,NINDS,SUNCT Headache +what research (or clinical trials) is being done for SUNCT Headache ?,"The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders.",NINDS,SUNCT Headache +What is (are) Neurotoxicity ?,"Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. Neurotoxicity can result from exposure to substances used in chemotherapy, radiation treatment, drug therapies, and organ transplants, as well as exposure to heavy metals such as lead and mercury, certain foods and food additives, pesticides, industrial and/or cleaning solvents, cosmetics, and some naturally occurring substances. Symptoms may appear immediately after exposure or be delayed. They may include limb weakness or numbness; loss of memory, vision, and/or intellect; headache; cognitive and behavioral problems; and sexual dysfunction. Individuals with certain disorders may be especially vulnerable to neurotoxicants.",NINDS,Neurotoxicity +What are the treatments for Neurotoxicity ?,"Treatment involves eliminating or reducing exposure to the toxic substance, followed by symptomatic and supportive therapy.",NINDS,Neurotoxicity +What is the outlook for Neurotoxicity ?,"The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment.",NINDS,Neurotoxicity +what research (or clinical trials) is being done for Neurotoxicity ?,"The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms that trigger neuroimmune responses in the central nervous system and the possibility that some brain disorders in children may occur when environmental triggers interact with genes.",NINDS,Neurotoxicity +What is (are) Spinal Cord Injury ?,"A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy axons -- extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.",NINDS,Spinal Cord Injury +What are the treatments for Spinal Cord Injury ?,"Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.",NINDS,Spinal Cord Injury +What is the outlook for Spinal Cord Injury ?,"Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a total lack of sensory and motor function below the level of injury. People who survive a spinal cord injury will most likely have medical complications such as chronic pain and bladder and bowel dysfunction, along with an increased susceptibility to respiratory and heart problems. Successful recovery depends upon how well these chronic conditions are handled day to day. + +Surgery to relieve compression of the spinal tissue by surrounding bones broken or dislocated by the injury is often necessary, through timing of such surgery may vary widely. A recent prospective multicenter trial called STASCIS is exploring whether performing decompression surgery early (less than 24 hours following injury) can improve outcomes for patients with bone fragments or other tissues pressing on the spinal cord.",NINDS,Spinal Cord Injury +what research (or clinical trials) is being done for Spinal Cord Injury ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. Advances in research are giving doctors and patients hope that repairing injured spinal cords is a reachable goal. Advances in basic research are also being matched by progress in clinical research, especially in understanding the kinds of physical rehabilitation that work best to restore function. Some of the more promising rehabilitation techniques are helping spinal cord injury patients become more mobile.",NINDS,Spinal Cord Injury +What is (are) Ataxia Telangiectasia ?,"Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red ""spider"" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.",NINDS,Ataxia Telangiectasia +What are the treatments for Ataxia Telangiectasia ?,"There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used.",NINDS,Ataxia Telangiectasia +What is the outlook for Ataxia Telangiectasia ?,"Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.",NINDS,Ataxia Telangiectasia +what research (or clinical trials) is being done for Ataxia Telangiectasia ?,"NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.",NINDS,Ataxia Telangiectasia +What is (are) Central Pontine Myelinolysis ?,"Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons. Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM. + +The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia). Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination. At its most severe, myelinolysis can lead to coma, locked-in syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death. + +Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor. + +Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia. The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction.",NINDS,Central Pontine Myelinolysis +What are the treatments for Central Pontine Myelinolysis ?,"The ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. For those who have hyponatremia for at least 2 days, or for whom the duration is not known, the rate of rise in the serum sodium concentration should be kept below 10 mmol/L during any 24-hour period, if possible. + +For those who develop myelinolysis, treatment is supportive. Some physicians have tried to treat myelinolysis with steroid medication or other experimental therapies, but none has been proven effective. Individuals are likely to require extensive and prolonged physical therapy and rehabilitation. Those individuals who develop parkinsonian symptoms may respond to the dopaminergic drugs that work for individuals with Parkinsons disease.",NINDS,Central Pontine Myelinolysis +What is the outlook for Central Pontine Myelinolysis ?,"The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. Most individuals improve gradually, but still continue to have challenges with speech, walking, emotional ups and downs, and forgetfulness.",NINDS,Central Pontine Myelinolysis +what research (or clinical trials) is being done for Central Pontine Myelinolysis ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. + +The NINDS conducts and supports research to better understand conditions that affect the protective myelin coating around nerve fibers and ways to prevent and treat the destruction of myelin. Scientists hope to develop drugs that can prevent brain cells from dying or help them produce new myelin. Research funded by the NIH's National Institute of Diabetes and Digestive and Kidney Diseases aims to understand the biological mechanisms involved in water balance in the body.",NINDS,Central Pontine Myelinolysis +What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,"Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. + +A small number of individuals with COFS have a mutation in the ""ERCC6"" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes ""XPG"" or ""XPD."" Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. + +NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).",NINDS,Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) +What are the treatments for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,"Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.",NINDS,Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) +What is the outlook for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,COFS is a fatal disease. Most children do not live beyond five years.,NINDS,Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) +what research (or clinical trials) is being done for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,"The NINDS supports research on genetic disorders such as COFS. The goals of this research include finding ways to prevent, treat, and cure these disorders.",NINDS,Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) +What is (are) Shingles ?,"Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.",NINDS,Shingles +What are the treatments for Shingles ?,"The severity and duration of an attack of shingles can be significantly reduced by immediate treatment with antiviral drugs, which include acyclovir, valcyclovir, or famcyclovir. Antiviral drugs may also help stave off the painful after-effects of shingles known as postherpetic neuralgia. Other treatments for postherpetic neuralgia include steroids, antidepressants, anticonvulsants (including pregabalin and gabapentin enacarbil), and topical agents. The varicella zoster virus vaccine (Zostavax) has been approved by teh food and Drug Administration for adults age 50 and older. Researchers found that giving older adults the vaccine reduced the expected number of later cases of shingles by half. And in people who still got the disease despite immunization, the severity and complications of shingles were dramatically reduced. The shingles vaccine is a preventive therapy and not a treatment for those who already have shingles or long-lasting nerve pain (postherpetic neuralgia).",NINDS,Shingles +What is the outlook for Shingles ?,"For most healthy people who receive treatment soon after the outbreak of blisters, the lesions heal, the pain subsides within 3 to 5 weeks, and the blisters often leave no scars. However, shingles is a serious threat in immunosuppressed individuals for example, those with HIV infection or who are receiving cancer treatments that can weaken their immune systems. People who receive organ transplants are also vulnerable to shingles because they are given drugs that suppress the immune system. + +A person with a shingles rash can pass the virus to someone, usually a child, who has never had chickenpox, but the child will develop chickenpox, not shingles. A person with chickenpox cannot give shingles to someone else. Shingles comes from the virus hiding inside the person's body, not from an outside source.",NINDS,Shingles +what research (or clinical trials) is being done for Shingles ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. Other studies focus on how VZV travels along sensory nerve fibers, or axons, and its role in latency and viral reactivation. Scientists also hope to identify molecular mechanisms that regulate the expression of latent viral genes, which may lead to targeted therapy to prevent reactivation. Other studies hope to better understand cellular changes that lead to persistent pain.",NINDS,Shingles +What is (are) Prosopagnosia ?,"Prosopagnosia is a neurological disorder characterized by the inability to recognize faces. Prosopagnosia is also known as face blindness or facial agnosia. The term prosopagnosia comes from the Greek words for face and lack of knowledge. Depending upon the degree of impairment, some people with prosopagnosia may only have difficulty recognizing a familiar face; others will be unable to discriminate between unknown faces, while still others may not even be able to distinguish a face as being different from an object. Some people with the disorder are unable to recognize their own face. Prosopagnosia is not related to memory dysfunction, memory loss, impaired vision, or learning disabilities. Prosopagnosia is thought to be the result of abnormalities, damage, or impairment in the right fusiform gyrus, a fold in the brain that appears to coordinate the neural systems that control facial perception and memory. Prosopagnosia can result from stroke, traumatic brain injury, or certain neurodegenerative diseases. In some cases it is a congenital disorder, present at birth in the absence of any brain damage. Congenital prosopagnosia appears to run in families, which makes it likely to be the result of a genetic mutation or deletion. Some degree of prosopagnosia is often present in children with autism and Aspergers syndrome, and may be the cause of their impaired social development.",NINDS,Prosopagnosia +What are the treatments for Prosopagnosia ?,The focus of any treatment should be to help the individual with prosopagnosia develop compensatory strategies. Adults who have the condition as a result of stroke or brain trauma can be retrained to use other clues to identify individuals.,NINDS,Prosopagnosia +What is the outlook for Prosopagnosia ?,"Prosopagnosia can be socially crippling. Individuals with the disorder often have difficulty recognizing family members and close friends. They often use other ways to identify people, such as relying on voice, clothing, or unique physical attributes, but these are not as effective as recognizing a face. Children with congenital prosopagnosia are born with the disability and have never had a time when they could recognize faces. Greater awareness of autism, and the autism spectrum disorders, which involve communication impairments such as prosopagnosia, is likely to make the disorder less overlooked in the future.",NINDS,Prosopagnosia +what research (or clinical trials) is being done for Prosopagnosia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as prosopagnosia.",NINDS,Prosopagnosia +What is (are) Shaken Baby Syndrome ?,"Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5.",NINDS,Shaken Baby Syndrome +What are the treatments for Shaken Baby Syndrome ?,"Emergency treatment for a baby who has been shaken usually includes life-sustaining measures such as respiratory support and surgery to stop internal bleeding and bleeding in the brain. Doctors may use brain scans, such as MRI and CT, to make a more definite diagnosis.",NINDS,Shaken Baby Syndrome +What is the outlook for Shaken Baby Syndrome ?,"In comparison with accidental traumatic brain injury in infants, shaken baby injuries have a much worse prognosis. Damage to the retina of the eye can cause blindness. The majority of infants who survive severe shaking will have some form of neurological or mental disability, such as cerebral palsy or cognitive impairment, which may not be fully apparent before 6 years of age. Children with shaken baby syndrome may require lifelong medical care.",NINDS,Shaken Baby Syndrome +what research (or clinical trials) is being done for Shaken Baby Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to shaken baby syndrome in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat and heal medical conditions such as shaken baby syndrome.",NINDS,Shaken Baby Syndrome +What is (are) Gaucher Disease ?,"Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys. Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.",NINDS,Gaucher Disease +What are the treatments for Gaucher Disease ?,"Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrate for Gaucher treatment, which works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide. Surgery to remove the whole or part of the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.",NINDS,Gaucher Disease +What is the outlook for Gaucher Disease ?,"Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease.",NINDS,Gaucher Disease +what research (or clinical trials) is being done for Gaucher Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, researchers hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for Gaucher disease and other lipid storage diseases; and identify genetic, biochemical, and clinical factors that are associated with disease severity in individuals with Gaucher disease.Additional research is looking at the increased buildup of the protein alpha-synuclein, which is seen in Gaucher disease, Parkinson's disease, and Lewy Body Dementia. Using different models of glucoserebrosidase deficiency, scientists hope to learn how this deficiency impairs the breakdown of lysosomal proteins, including the breakdown of alpha-synuclein.",NINDS,Gaucher Disease +What is (are) Moyamoya Disease ?,"Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name moyamoya means puff of smoke in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Moyamoya disease was first described in Japan in the 1960s and it has since been found in individuals in the other countries around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as mini-strokes), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain from the abnormal brain vessels. Individuals with this disorder may have disturbed consciousness, problems with speaking and understanding speech, sensory and cognitive impairments, involuntary movements, and vision problems.About one in 10 individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities.Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.",NINDS,Moyamoya Disease +What are the treatments for Moyamoya Disease ?,"There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery.",NINDS,Moyamoya Disease +What is the outlook for Moyamoya Disease ?,"Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain).",NINDS,Moyamoya Disease +what research (or clinical trials) is being done for Moyamoya Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop in the brain, and that focus on finding ways to prevent, treat, or cure them.Anti-angiogenic therapy uses drugs that either activate and promote cell growth or directly block the growing blood vessel cells. NINDS-funded researchers are testing the anti-angiogenic drug Apo-Timop, part of a class of drugs called beta-blockers, which may lead to the development of new anti-angiogenics for people with vascular malformations. In other research, Other NINDS-funded research hopes to improve the understanding of this disease by determining whether infections injure blood vessels and thereby predispose children to stroke. It will also determine causes of recurrence, a crucial step toward developing ways to prevent repeated strokes in children.",NINDS,Moyamoya Disease +What is (are) Dyslexia ?,"Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. These individuals typically read at levels significantly lower than expected despite having normal intelligence. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the manipulation of sounds), spelling, and/or rapid visual-verbal responding. In individuals with adult onset of dyslexia, it usually occurs as a result of brain injury or in the context of dementia; this contrasts with individuals with dyslexia who simply were never identified as children or adolescents. Dyslexia can be inherited in some families, and recent studies have identified a number of genes that may predispose an individual to developing dyslexia.",NINDS,Dyslexia +What are the treatments for Dyslexia ?,The main focus of treatment should be on the specific learning problems of affected individuals. The usual course is to modify teaching methods and the educational environment to meet the specific needs of the individual with dyslexia.,NINDS,Dyslexia +What is the outlook for Dyslexia ?,"For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive family and friends and a strong self-image, and who are involved in a proper remediation program.",NINDS,Dyslexia +what research (or clinical trials) is being done for Dyslexia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dyslexia research through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat dyslexia and other learning disabilities, increasing the understanding of the biological and possible genetic bases of learning disabilities, and exploring the relationship between neurophysiological processes and cognitive functions with regard to reading ability.",NINDS,Dyslexia +What is (are) Lesch-Nyhan Syndrome ?,"Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors characterized by lip and finger biting that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntingtons disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.",NINDS,Lesch-Nyhan Syndrome +What are the treatments for Lesch-Nyhan Syndrome ?,"Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.",NINDS,Lesch-Nyhan Syndrome +What is the outlook for Lesch-Nyhan Syndrome ?,The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.,NINDS,Lesch-Nyhan Syndrome +what research (or clinical trials) is being done for Lesch-Nyhan Syndrome ?,The gene associated with LNS is known. The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.,NINDS,Lesch-Nyhan Syndrome +What is (are) Hereditary Spastic Paraplegia ?,"Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of ""pure"" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.",NINDS,Hereditary Spastic Paraplegia +What are the treatments for Hereditary Spastic Paraplegia ?,"There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to preserve range of motion.",NINDS,Hereditary Spastic Paraplegia +What is the outlook for Hereditary Spastic Paraplegia ?,The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability. The majority of individuals with uncomplicated HSP have a normal life expectancy.,NINDS,Hereditary Spastic Paraplegia +what research (or clinical trials) is being done for Hereditary Spastic Paraplegia ?,"The NINDS supports research on genetic disorders such as HSP. More than 30 genes that are responsible for several forms of HSP have been identified, and many more will likely be identified in the future. These genes generally encode proteins that normally help maintain the function of axons in the spinal cord. Understanding how mutations of these genes cause HSP should lead to ways to prevent, treat, and cure HSP.",NINDS,Hereditary Spastic Paraplegia +What is (are) Tethered Spinal Cord Syndrome ?,"Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.",NINDS,Tethered Spinal Cord Syndrome +What are the treatments for Tethered Spinal Cord Syndrome ?,"MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Other treatment is symptomatic and supportive.",NINDS,Tethered Spinal Cord Syndrome +What is the outlook for Tethered Spinal Cord Syndrome ?,"With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline.",NINDS,Tethered Spinal Cord Syndrome +what research (or clinical trials) is being done for Tethered Spinal Cord Syndrome ?,"The NINDS conducts and supports research on disorders of the spinal cord. The goals of this research are to find ways to prevent, treat, and cure these disorders.",NINDS,Tethered Spinal Cord Syndrome +What is (are) Peripheral Neuropathy ?,"Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. + +More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of development, and prognosis. Impaired function and symptoms depend on the type of nerves -- motor, sensory, or autonomic -- that are damaged. Some people may experience temporary numbness, tingling, and pricking sensations, sensitivity to touch, or muscle weakness. Others may suffer more extreme symptoms, including burning pain (especially at night), muscle wasting, paralysis, or organ or gland dysfunction. Peripheral neuropathy may be either inherited or acquired. Causes of acquired peripheral neuropathy include physical injury (trauma) to a nerve, tumors, toxins, autoimmune responses, nutritional deficiencies, alcoholism, medical procedures, and vascular and metabolic disorders. Acquired peripheral neuropathies are caused by systemic disease, trauma from external agents, or infections or autoimmune disorders affecting nerve tissue. Inherited forms of peripheral neuropathy are caused by inborn mistakes in the genetic code or by new genetic mutations.",NINDS,Peripheral Neuropathy +What are the treatments for Peripheral Neuropathy ?,"No medical treatments exist that can cure inherited peripheral neuropathy. However, there are therapies for many other forms. In general, adopting healthy habits -- such as maintaining optimal weight, avoiding exposure to toxins, following a physician-supervised exercise program, eating a balanced diet, correcting vitamin deficiencies, and limiting or avoiding alcohol consumption -- can reduce the physical and emotional effects of peripheral neuropathy. Systemic diseases frequently require more complex treatments.",NINDS,Peripheral Neuropathy +What is the outlook for Peripheral Neuropathy ?,"In acute neuropathies, such as Guillain-Barr syndrome, symptoms appear suddenly, progress rapidly, and resolve slowly as damaged nerves heal. In chronic forms, symptoms begin subtly and progress slowly. Some people may have periods of relief followed by relapse. Others may reach a plateau stage where symptoms stay the same for many months or years. Some chronic neuropathies worsen over time, but very few forms prove fatal unless complicated by other diseases. Occasionally the neuropathy is a symptom of another disorder.",NINDS,Peripheral Neuropathy +what research (or clinical trials) is being done for Peripheral Neuropathy ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to peripheral neuropathies in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Current research projects funded by the NINDS involve investigations of genetic factors associated with hereditary neuropathies, studies of biological mechanisms involved in diabetes-associated neuropathies, and investigations exploring how the immune system contributes to peripheral nerve damage. Neuropathic pain is a primary target of NINDS-sponsored studies aimed at developing more effective therapies for symptoms of peripheral neuropathy. Some scientists hope to identify substances that will block the brain chemicals that generate pain signals, while others are investigating the pathways by which pain signals reach the brain.",NINDS,Peripheral Neuropathy +What is (are) Paroxysmal Hemicrania ?,"Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. This pain may be accompanied by red and tearing eyes, a drooping or swollen eyelid on the affected side of the face, and nasal congestion. Patients may also feel dull pain, soreness, or tenderness between attacks. Attacks of paroxysmal hemicrania typically occur from 5 to 40 times per day and last 2 to 30 minutes. The disorder has two forms: chronic, in which patients experience attacks on a daily basis for a year or more, and episodic, in which the headaches may remit for months or years. Certain movements of the head or neck or external pressure to the neck may trigger these headaches in some patients. The disorder is more common in women than in men.",NINDS,Paroxysmal Hemicrania +What are the treatments for Paroxysmal Hemicrania ?,"The nonsteroidal anti-inflammatory drug (NSAID) indomethacin often provides complete relief from symptoms. Other less effective NSAIDs, calcium-channel blocking drugs (such as verapamil), and corticosteroids may be used to treat the disorder. Patients with both paroxysmal hemicrania and trigeminal neuralgia (a condition of the 5th cranial nerve that causes sudden, severe pain typically felt on one side of the jaw or cheek) should receive treatment for each disorder.",NINDS,Paroxysmal Hemicrania +What is the outlook for Paroxysmal Hemicrania ?,Many patients experience complete to near-complete relief of symptoms following physician-supervised medical treatment. Paroxysmal hemicrania may last indefinitely but has been known to go into remission or stop spontaneously.,NINDS,Paroxysmal Hemicrania +what research (or clinical trials) is being done for Paroxysmal Hemicrania ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to paroxysmal hemicrania through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure headache disorders such as paroxysmal hemicrania.",NINDS,Paroxysmal Hemicrania +What is (are) Motor Neuron Diseases ?,"The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations). Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired, and they occur in all age groups. MNDs occur more commonly in men than in women, and symptoms may appear after age 40. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. + +The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated. Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.",NINDS,Motor Neuron Diseases +What are the treatments for Motor Neuron Diseases ?,"There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease. + +Physical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.",NINDS,Motor Neuron Diseases +What is the outlook for Motor Neuron Diseases ?,"Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some forms of spinal muscular atrophy, are fatal.",NINDS,Motor Neuron Diseases +what research (or clinical trials) is being done for Motor Neuron Diseases ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Researchers are testing whether different drugs, agents, or interventions are safe and effective in slowing the progression of motor neuron diseasess. NIH is also conducting clinical trials to study drugs to stimulate muscle growth in Kennedys disease and to suppress endogenous retroviruses in individuals with ALS. A large NIH-led collaborative study is investigating the genes and gene activity, proteins, and modifications of adult stem cell models from both healthy people and those with ALS,spinal muscular atrophy, and other neurodegenerative diseases to better understand the function of neurons and other support cells and identify candidate therapeutic compounds. + + + +conducts research related to the MNDs in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as the MNDs.",NINDS,Motor Neuron Diseases +What is (are) Lambert-Eaton Myasthenic Syndrome ?,"Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. The disruption of electrical impulses is associated with antibodies produced as a consequence of this autoimmunity. Symptoms include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. LEMS is closely associated with cancer, in particular small cell lung cancer. More than half the individuals diagnosed with LEMS also develop small cell lung cancer. LEMS may appear up to 3 years before cancer is diagnosed.",NINDS,Lambert-Eaton Myasthenic Syndrome +What are the treatments for Lambert-Eaton Myasthenic Syndrome ?,"There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). For patients with small cell lung cancer, treatment of the cancer is the first priority.",NINDS,Lambert-Eaton Myasthenic Syndrome +What is the outlook for Lambert-Eaton Myasthenic Syndrome ?,The prognosis for individuals with LEMS varies. Those with LEMS not associated with malignancy have a benign overall prognosis. Generally the presence of cancer determines the prognosis.,NINDS,Lambert-Eaton Myasthenic Syndrome +what research (or clinical trials) is being done for Lambert-Eaton Myasthenic Syndrome ?,"The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them.",NINDS,Lambert-Eaton Myasthenic Syndrome +What is (are) Cerebellar Hypoplasia ?,"Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes. In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.",NINDS,Cerebellar Hypoplasia +What are the treatments for Cerebellar Hypoplasia ?,"There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive.",NINDS,Cerebellar Hypoplasia +What is the outlook for Cerebellar Hypoplasia ?,"The prognosis is dependent upon the underlying disorder. Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis. Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome.",NINDS,Cerebellar Hypoplasia +what research (or clinical trials) is being done for Cerebellar Hypoplasia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to cerebellar hypoplasia and its associated disorders through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders that feature cerebellar hypoplasia.",NINDS,Cerebellar Hypoplasia +What is (are) Cerebral Arteriosclerosis ?,"Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. + +Cerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal. + +Cerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. Personality changes in the elderly, such as apathy, weeping, transient befuddlement, or irritability, might indicate that cerebral arteriosclerosis is present in the brain. Computer tomography (CT) and magnetic resonance imaging (MRI) of the brain can help reveal the presence of cerebral arteriosclerosis before ischemic strokes, hemorrhagic strokes, or vascular dementia develop.",NINDS,Cerebral Arteriosclerosis +What are the treatments for Cerebral Arteriosclerosis ?,"Treatment for cerebral arteriosclerosis can include medications or surgery. Physicians also may recommend treatments to help people control high blood pressure, quit cigarette smoking, and reduce cholesterol levels, all of which are risk factors for cerebral arteriosclerosis.",NINDS,Cerebral Arteriosclerosis +What is the outlook for Cerebral Arteriosclerosis ?,Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments.,NINDS,Cerebral Arteriosclerosis +what research (or clinical trials) is being done for Cerebral Arteriosclerosis ?,The NINDS supports an extensive research program on stroke and conditions that can lead to stroke. Much of this research is aimed at finding ways to prevent and treat conditions such as cerebral arteriosclerosis.,NINDS,Cerebral Arteriosclerosis +What is (are) Metachromatic Leukodystrophy ?,"Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves. The buildup of storage materials impairs the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. (Myelin, which lends its color to the white matter of the brain, is a complex substance made up of a mixture of fats and proteins.) MLD is one of several lipid storage diseases, which result in the harmful buildup of lipids in brain cells and other cells and tissues in the body. People with lipid storage diseases either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do not work properly. Some leukodystrophies are caused by genetic defects of enzymes that regulate the metabolism of fats needed in myelin synthesis. MLD, which affects males and females, is cause by a deficiency of the enzyme arylsulfatase A. MLD has three characteristic forms: late infantile, juvenile, and adult. Late infantile MLD typically begins between 12 and 20 months following birth. Infants appear normal at first but develop difficulty walking after the first year of life and eventually lose the ability to walk. Other symptoms include muscle wasting and weakness,developmental delays, progressive loss of vision leading to blindness, impaired swallowing, and dementia before age 2. Most children with this form of MLD die by age 5. Symptoms of the juvenile form of MLD (which begins between 3-10 years of age) include impaired school performance, mental deterioration, an inability to control movements, seizures, and dementia. Symptoms continue to get worse, and death eventually occurs 10 to 20 years following disease onset.. The adult form commonly begins after age 16, with symptoms that include psychiatric disturbances, seizures, tremor, impaired concentration, depression, and dementia. Death generally occurs within 6 to 14 years after onset of symptoms.",NINDS,Metachromatic Leukodystrophy +What are the treatments for Metachromatic Leukodystrophy ?,There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.,NINDS,Metachromatic Leukodystrophy +What is the outlook for Metachromatic Leukodystrophy ?,The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.,NINDS,Metachromatic Leukodystrophy +what research (or clinical trials) is being done for Metachromatic Leukodystrophy ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency. If successful, the project could lead to trials in humans. Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells) in correcting the gene deficiency in metachromatic leukodystrophy.",NINDS,Metachromatic Leukodystrophy +What is (are) Neuroacanthocytosis ?,"Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.",NINDS,Neuroacanthocytosis +What are the treatments for Neuroacanthocytosis ?,"There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties to maintain proper nutrition. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.",NINDS,Neuroacanthocytosis +What is the outlook for Neuroacanthocytosis ?,"Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.",NINDS,Neuroacanthocytosis +what research (or clinical trials) is being done for Neuroacanthocytosis ?,"The NINDS supports research on disorders such as neuroacanthocytosis, aimed at increasing scientific understanding of the disorders and finding ways to prevent and treat them. The genetic mutations responsible for some types of neuroacanthocytosis have recently been identified. Researchers are examining the role of the basal ganglia in neuroacanthocytosis and hope to correlate the specific genetic abnormalities with the clinical features of the disease. Other research is aimed at identifying possible causes of sudden death related to heart muscle abnormalities, which are observed in some individuals with neuroacanthocytosis.",NINDS,Neuroacanthocytosis +What is (are) Arachnoiditis ?,"Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to stick together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms. It may also affect bladder, bowel, and sexual function. In severe cases, arachnoiditis may cause paralysis of the lower limbs.",NINDS,Arachnoiditis +What are the treatments for Arachnoiditis ?,"Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.",NINDS,Arachnoiditis +What is the outlook for Arachnoiditis ?,Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms.,NINDS,Arachnoiditis +what research (or clinical trials) is being done for Arachnoiditis ?,"Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis.",NINDS,Arachnoiditis +What is (are) Pompe Disease ?,"Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes. Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency. + +Early onset (or the infantile form) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. Most babies die from cardiac or respiratory complications before their first birthday. + +Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis.",NINDS,Pompe Disease +What are the treatments for Pompe Disease ?,"Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease.",NINDS,Pompe Disease +What is the outlook for Pompe Disease ?,"Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.",NINDS,Pompe Disease +what research (or clinical trials) is being done for Pompe Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. Much of Pompe-related research focuses on finding better ways to prevent, treat, and ultimately cure this disorder.",NINDS,Pompe Disease +What is (are) Machado-Joseph Disease ?,"Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.",NINDS,Machado-Joseph Disease +What are the treatments for Machado-Joseph Disease ?,"MJD is incurable, but some symptoms of the disease can be treated. For those individuals who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy. Physiotherapy can help patients cope with disability associated with gait problems. Physical aids, such as walkers and wheelchairs, can assist with everyday activities.",NINDS,Machado-Joseph Disease +What is the outlook for Machado-Joseph Disease ?,"The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. The cause of death for those who die early is often aspiration pneumonia.",NINDS,Machado-Joseph Disease +what research (or clinical trials) is being done for Machado-Joseph Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country. Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited neurodegenerative diseases such as MJD. Other research areas include the development of novel therapies to treat the symptoms of MJD, efforts to identify diagnostic markers and to improve current diagnostic procedures for the disease, and population studies to identify affected families.",NINDS,Machado-Joseph Disease +What is (are) Colpocephaly ?,"Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present.",NINDS,Colpocephaly +What are the treatments for Colpocephaly ?,"There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.",NINDS,Colpocephaly +What is the outlook for Colpocephaly ?,The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.,NINDS,Colpocephaly +what research (or clinical trials) is being done for Colpocephaly ?,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly.",NINDS,Colpocephaly +What is (are) Alzheimer's Disease ?,"Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older. + +There are three major hallmarks in the brain that are associated with the disease processes of AD. + +- Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.",NINDS,Alzheimer's Disease +What are the treatments for Alzheimer's Disease ?,"Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms.",NINDS,Alzheimer's Disease +What is the outlook for Alzheimer's Disease ?,"In very few families, people develop AD in their 30s, 40s, and 50s. This is known as ""early onset"" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. This form of AD is called ""late-onset"" AD, and its development and pattern of damage in the brain is similar to that of early-onset AD. The course of this disease varies from person to person, as does the rate of decline. In most people with AD, symptoms first appear after age 65. + +We don't yet completely understand the causes of late-onset AD, but they probably include genetic, environmental, and lifestyle factors. Although the risk of developing AD increases with age, AD and dementia symptoms are not a part of normal aging. There are also some forms of dementia that aren't related to brain diseases such as AD, but are caused by systemic abnormalities such as metabolic syndrome, in which the combination of high blood pressure, high cholesterol, and diabetes causes confusion and memory loss.",NINDS,Alzheimer's Disease +what research (or clinical trials) is being done for Alzheimer's Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure. + +On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025.",NINDS,Alzheimer's Disease +What is (are) Herpes Zoster Oticus ?,"Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. Herpes zoster oticus, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur.",NINDS,Herpes Zoster Oticus +What are the treatments for Herpes Zoster Oticus ?,"Some cases of herpes zoster oticus do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be prescribed. Vertigo may be treated with the drug diazepam",NINDS,Herpes Zoster Oticus +What is the outlook for Herpes Zoster Oticus ?,"Generally, the prognosis of herpes zoster oticus is good. However, in some cases, hearing loss may be permanent. Vertigo may last for days or weeks. Facial paralysis may be temporary or permanent.",NINDS,Herpes Zoster Oticus +what research (or clinical trials) is being done for Herpes Zoster Oticus ?,The NINDS supports research on shingles and shingles-related conditions. Current studies focus on the relationship between the persistence of neurotropic viruses and development of neurological diseases including herpes simplex and varicella-zoster viruses.,NINDS,Herpes Zoster Oticus +What is (are) Krabbe Disease ?,"Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerves protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.",NINDS,Krabbe Disease +What are the treatments for Krabbe Disease ?,"There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.",NINDS,Krabbe Disease +What is the outlook for Krabbe Disease ?,Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.,NINDS,Krabbe Disease +what research (or clinical trials) is being done for Krabbe Disease ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the largest supporter of biomedical research in the world. Hamatopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse mode, NINDS-funded scientists are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.",NINDS,Krabbe Disease +What is (are) Meningitis and Encephalitis ?,"Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis.Inflammation from encephalitis and meningitis produce a wide range of symptoms. Symptoms of encephalitis include sudden fever, headache, vomiting, heightened sensitivity to light, stiff neck and back, confusion and impaired judgment, drowsiness, weak muscles, a clumsy and unsteady gait, and irritability. In more severe cases, people may have problems with speech or hearing, vision problems, and hallucinations. Symptoms that might require emergency treatment include loss of consciousness, seizures, muscle weakness, or sudden severe dementia. + +Symptoms of meningitis, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, sensitivity to bright light, and vomiting. Changes in behavior such as confusion, sleepiness, and difficulty waking up may also occur. In infants, symptoms of meningitis or encephalitis may include fever, vomiting, lethargy, body stiffness, unexplained irritability, and a full or bulging fontanel (the soft spot on the top of the head). Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately.",NINDS,Meningitis and Encephalitis +What are the treatments for Meningitis and Encephalitis ?,Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration.,NINDS,Meningitis and Encephalitis +What is the outlook for Meningitis and Encephalitis ?,"The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. The acute phase of encephalitis may last for 1 to 2 weeks, with gradual or sudden resolution of fever and neurological symptoms. Individuals treated for bacterial meningitis typically show some relief within 48-72 hours. Neurological symptoms may require many months before full recovery. With early diagnosis and prompt treatment, most individuals recover from meningitis. However, in some cases, the disease progresses so rapidly that death occurs during the first 48 hours, despite early treatment.",NINDS,Meningitis and Encephalitis +what research (or clinical trials) is being done for Meningitis and Encephalitis ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Current research efforts include gaining a better understanding of how the central nervous system responds to inflammation in the brain, as well as to better understand the molecular mechanisms involved in the protection and disruption of the blood-brain barrier, which could lead to the development of new treatments for several neuroinflammatory diseases such as meningitis and encephalitis.",NINDS,Meningitis and Encephalitis +What is (are) Deep Brain Stimulation for Parkinson's Disease ?,"Deep brain stimulation (DBS) is a surgical procedure used to treat several disabling neurological symptomsmost commonly the debilitating motor symptoms of Parkinsons disease (PD), such as tremor, rigidity, stiffness, slowed movement, and walking problems. The procedure is also used to treat essential tremor and dystonia. At present, the procedure is used only for individuals whose symptoms cannot be adequately controlled with medications. However, only individuals who improve to some degree after taking medication for Parkinsons benefit from DBS. A variety of conditions may mimic PD but do not respond to medications or DBS. DBS uses a surgically implanted, battery-operated medical device called an implantable pulse generator (IPG) - similar to a heart pacemaker and approximately the size of a stopwatch to - deliver electrical stimulation to specific areas in the brain that control movement, thus blocking the abnormal nerve signals that cause PD symptoms. + +Before the procedure, a neurosurgeon uses magnetic resonance imaging (MRI) or computed tomography (CT) scanning to identify and locate the exact target within the brain for surgical intervention. Some surgeons may use microelectrode recording - which involves a small wire that monitors the activity of nerve cells in the target area - to more specifically identify the precise brain area that will be stimulated. Generally, these areas are the thalamus, subthalamic nucleus, and globus pallidus. There is a low chance that placement of the stimulator may cause bleeding or infection in the brain. + +The DBS system consists of three components: the lead, the extension, and the IPG. The lead (also called an electrode)a thin, insulated wireis inserted through a small opening in the skull and implanted in the brain. The tip of the electrode is positioned within the specific brain area. + +The extension is an insulated wire that is passed under the skin of the head, neck, and shoulder, connecting the lead to the implantable pulse generator. The IPG (the ""battery pack"") is the third component and is usually implanted under the skin near the collarbone. In some cases it may be implanted lower in the chest or under the skin over the abdomen. + +Once the system is in place, electrical impulses are sent from the IPG up along the extension wire and the lead and into the brain. These impulses block abnormal electrical signals and alleviate PD motor symptoms.",NINDS,Deep Brain Stimulation for Parkinson's Disease +What are the treatments for Deep Brain Stimulation for Parkinson's Disease ?,"Unlike previous surgeries for PD, DBS involves minimal permanent surgical changes to the brain. Instead, the procedure uses electrical stimulation to regulate electrical signals in neural circuits to and from identified areas in the brain to improve PD symptoms. Thus, if DBS causes unwanted side effects or newer, more promising treatments develop in the future, the implantable pulse generator can be removed, and the DBS procedure can be halted. Also, stimulation from the IPG is easily adjustablewithout further surgeryif the persons condition changes. Some people describe the pulse generator adjustments as ""programming.""",NINDS,Deep Brain Stimulation for Parkinson's Disease +What is the outlook for Deep Brain Stimulation for Parkinson's Disease ?,"Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). In some cases, the stimulation itself can suppress dyskinesias without a reduction in medication. DBS does not improve cognitive symptoms in PD and indeed may worsen them, so it is not generally used if there are signs of dementia. DBS changes the brain firing pattern but does not slow the progression of the neurodegeneration.",NINDS,Deep Brain Stimulation for Parkinson's Disease +what research (or clinical trials) is being done for Deep Brain Stimulation for Parkinson's Disease ?,"The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National institutes of Health (NIH), supports research on DBS to determine its safety, reliability, and effectiveness as a treatment for PD. NINDS supported research on brain circuitry was critical to the development of DBS. + +Researchers are continuing to study DBS and to develop ways of improving it. A two-part study funded by the NINDS and the Department of Veterans Affairs first compared bilateral DBS to best medical therapy, including medication adjustment and physical therapy. Bilateral DBS showed overall superiority to best medical therapy at improving motor symptoms and quality of life. The second part of the study, involving nearly 300 patients, compared subthalamic nucleus (STN) DBS to globus pallidus interna (GPI) DBS. The two groups reported similar improvements in motor control and quality of life in scores on the Unified Parkinsons Disease Rating Scale. On a variety of neuropsychological tests, there were no significant differences between the two groups. However, the STN DBS group experienced a greater decline on a test of visuomotor processing speed, which measures how quickly someone thinks and acts on information. Also, the STN DBS group had slight worsening on a standard assessment of depression, while the GPI DBS group had slight improvement on the same test. The importance of these two differences is not clear, and will be scrutinized in follow-up research. + +In addition, NINDS-supported researchers are developing and testing improved implantable pulse generators, and conducting studies to better understand the therapeutic effect of neurostimulation on neural circuitry and brain regions affected in PD. For more information about current studies on brain stimulation and Parkinsons disease, see www.clinicaltrials.gov and search for deep brain stimulation AND Parkinson AND NINDS. For information about NINDS-and NIH-supported research studies in this area, see the NIH RePORTER (Research Portfolio Online Reporting Tools) at http://projectreporter.nih.gov and search for deep brain stimulation AND Parkinson. + +The Brain Initiative for Advancing Innovative Neurotechnologies (BRAIN) initiative, announced in 2013, offers unprecedented opportunities to unlock the mysteries of the brain and accelerate the development of research and technologies to treat disorders such as Parkinsons disease. For more information about the BRAIN initiative, see www.nih.gov/science/brain.",NINDS,Deep Brain Stimulation for Parkinson's Disease +What is (are) Tarlov Cysts ?,"Tarlov cysts are sacs filled with cerebrospinal fluid that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts (also known as meningeal or perineural cysts) can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, headaches (due to changes in cerebrospinal fluid pressure), constipation, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain and deterioration of surrounding bone. Tarlov cysts can be diagnosed using magnetic resonance imaging (MRI); however, it is estimated that the majority of the cysts observed by MRI cause no symptoms. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.",NINDS,Tarlov Cysts +What are the treatments for Tarlov Cysts ?,"Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Injecting the cysts with fibrin glue (a combination of naturally occurring substances based on the clotting factor in blood) may provide temporary relief of pain. Some scientists believe the herpes simplex virus, which thrives in an alkaline environment, can cause Tarlov cysts to become symptomatic. Making the body less alkaline, through diet or supplements, may lessen symptoms. Microsurgical removal of the cyst may be an option in select individuals who do not respond to conservative treatments and who continue to experience pain or progressive neurological damage.",NINDS,Tarlov Cysts +What is the outlook for Tarlov Cysts ?,"In some instances Tarlov cysts can cause nerve pain and other pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.",NINDS,Tarlov Cysts +what research (or clinical trials) is being done for Tarlov Cysts ?,"The NINDS, a component of the National Institutes of Health within the U.S. Department of Health and Human Services, vigorously pursues a research program seeking new treatments to reduce and prevent pain and nerve damage.",NINDS,Tarlov Cysts +What is (are) Transverse Myelitis ?,"Transverse myelitis is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The segment of the spinal cord at which the damage occurs determines which parts of the body are affected. Damage at one segment will affect function at that segment and segments below it. In people with transverse myelitis, inflammation usually occurs at the thoracic (upper back) level, causing problems with leg movement and bowel and bladder control, which require signals from the lower segments of the spinal cord. What usually begins as a sudden onset of lower back pain, muscle weakness, or abnormal sensations in the toes and feet can rapidly progress to more severe symptoms, including paralysis, urinary retention, and loss of bowel control.",NINDS,Transverse Myelitis +What are the treatments for Transverse Myelitis ?,"No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.",NINDS,Transverse Myelitis +What is the outlook for Transverse Myelitis ?,"Most individuals will have only one episode of transverse myelitis. Recovery usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years and in some cases longer--requiring aggressive physical therapy and rehabilitation. However, if there is no improvement within the first 3 to 6 months, complete recovery is unlikely (although some recovery can occur). Historic data, shows that about one-third of people affected with transverse myelitis experience good or full recovery from their symptoms. Another one-third show only fair recovery and are left with significant deficits. The remaining one-third show no recovery at all, with marked dependence on others for basic functions of daily living. New, more aggressive treatment protocols may result in greater recovery statistics.",NINDS,Transverse Myelitis +what research (or clinical trials) is being done for Transverse Myelitis ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. Some studies focus on strategies to repair the spinal cord, including approaches using cell transplantation. The NINDS also funds researchers who are using animal models of spinal cord injury to study strategies for replacement or regeneration of spinal cord nerve cells. The knowledge gained from such research should lead to a greater knowledge of the mechanisms responsible for transverse myelitis and may ultimately provide a means to prevent and treat this disorder.",NINDS,Transverse Myelitis +What is (are) Encephalitis Lethargica ?,"Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. The cause of encephalitis lethargica is unknown. Between 1917 to 1928, an epidemic of encephalitis lethargica spread throughout the world, but no recurrence of the epidemic has since been reported. Postencephalitic Parkinson's disease may develop after a bout of encephalitis-sometimes as long as a year after the illness.",NINDS,Encephalitis Lethargica +What are the treatments for Encephalitis Lethargica ?,Treatment for encephalitis lethargica is symptomatic. Levodopa and other antiparkinson drugs often produce dramatic responses.,NINDS,Encephalitis Lethargica +What is the outlook for Encephalitis Lethargica ?,The course of encephalitis lethargica varies depending upon complications or accompanying disorders.,NINDS,Encephalitis Lethargica +what research (or clinical trials) is being done for Encephalitis Lethargica ?,"The NINDS supports research on disorders that affect the brain, such as encephalitis lethargica, with the goal of finding ways to prevent and treat them. (The disease was the subject of the book and film, ""Awakenings."")",NINDS,Encephalitis Lethargica +What is (are) Dystonias ?,"The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.",NINDS,Dystonias +What are the treatments for Dystonias ?,"No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among individuals and even in the same person over time, the most effective therapy is often individualized.",NINDS,Dystonias +What is the outlook for Dystonias ?,"The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.",NINDS,Dystonias +what research (or clinical trials) is being done for Dystonias ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. Scientists at other NIH Institutes (National institute on Deafness and Other Communications Disorders, National Eye Institute, and Eunice Kennnedy Shriver National Institute on Child Health and Human Development) also support research that may benefit individuals with dystonia. Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias continues.",NINDS,Dystonias +What is (are) Dandy-Walker Syndrome ?,"Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.",NINDS,Dandy-Walker Syndrome +What are the treatments for Dandy-Walker Syndrome ?,"Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. Treatment may also include various forms of therapy (physicial, occupational) and specialized education.",NINDS,Dandy-Walker Syndrome +What is the outlook for Dandy-Walker Syndrome ?,"The effect of Dandy-Walker Syndrome on intellectual development is variable, with some children having normal cognition and others never achieving normal intellectual development even when the excess fluid buildup is treated early and correctly. Longevity depends on the severity of the syndrome and associated malformations. The presence of multiple congenital defects may shorten life span.",NINDS,Dandy-Walker Syndrome +what research (or clinical trials) is being done for Dandy-Walker Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. Researchers are studying DNA samples from individuals with Dandy-Walker syndrome to identify genes involved with the syndrome, as well as to better understand its causes and improve diagnosis and treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome.",NINDS,Dandy-Walker Syndrome +What is (are) Chiari Malformation ?,"Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Symptoms may change for some individuals depending on buildup of CNS and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.",NINDS,Chiari Malformation +What are the treatments for Chiari Malformation ?,"Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the person's activities of daily living.",NINDS,Chiari Malformation +What is the outlook for Chiari Malformation ?,"Many people with Type I CM are asymptomatic and do not know they have the condition. Many individuals with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent.",NINDS,Chiari Malformation +what research (or clinical trials) is being done for Chiari Malformation ?,"The NINDS supports research on disorders of the brain and nervous system such as Chiari malformations. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and, ultimately, cure them. Current NINDS-funded research includes studies to better understand the genetic factors responsible for the malformation, and factors that influence the development, progression, and relief of symptoms among people with syringomyelia, including those with Chiari I malformations.",NINDS,Chiari Malformation +What is (are) Atrial Fibrillation and Stroke ?,"Atrial fibrillation (AF) describes the rapid, irregular beating of the left atrium (upper chamber) of the heart. These rapid contractions of the heart are weaker than normal contractions, resulting in slow flow of blood in the atrium. The blood pools and becomes sluggish and can result in the formation of blood clots. If a clot leaves the heart and travels to the brain, it can cause a stroke by blocking the flow of blood through cerebral arteries. Some people with AF have no symptoms, but others may experience a fluttering feeling in the area of the chest above the heart, chest pain, lightheadness or fainting, shortness of breath, and fatigue. AF is diagnosed by an electrocardiogram (ECG), a device that records the hearts electrical activity. Other tests are often performed to rule out contributing causes, such as high blood pressure, an overactive thyroid gland, heart failure, faulty heart valves, lung disease, and stimulant or alcohol abuse. Some people will have no identifiable cause for their AF.",NINDS,Atrial Fibrillation and Stroke +What are the treatments for Atrial Fibrillation and Stroke ?,"Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. Immediately after a stroke, doctors may temporarily administer heparin by injection, while starting an oral medication for long-term protection from clots. The most commonly used drug has been warfarin. People taking warfarin must be closely monitored to make sure their blood is thin enough to prevent clots, but not so thin as to promote bleeding. Since some foods, vitamin supplements, and medications can affect warfarin action, keeping the blood just thin enough can be tricky. More recently, a number of new blood thinners, including dabigatran, rivaroxaban, and apixaban, have been shown to be as effective as warfarin in stroke prevention. These newer medications do not require regular blood test monitoring and may have less tendency to cause bleeding due to making the blood too thin. Some individuals with AF may have a lower risk of stroke and may be treated with aspirin, either alone or with another antiplatelet agency like clopidogrel. Other treatments for AF include medications such as beta blockers or calcium channel blockers to slow the heartbeat, and anti-arrhythmic drugs or electrical cardioversion (which delivers an electrical shock to the heart) to normalize the heartbeat.",NINDS,Atrial Fibrillation and Stroke +What is the outlook for Atrial Fibrillation and Stroke ?,"AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who have AF by approximately one-half to two- thirds. People with AF can have multiple strokes, including silent strokes (strokes that don't show physical symptoms but show up on a brain scan) that, over time, can cause dementia, so prevention is important.",NINDS,Atrial Fibrillation and Stroke +what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ?,"The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as AF that can increase the risk of stroke.",NINDS,Atrial Fibrillation and Stroke +What is (are) X-linked congenital stationary night blindness ?,"X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder. The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause and by the results of a test called an electroretinogram, which measures the function of the retina.",GHR,X-linked congenital stationary night blindness +How many people are affected by X-linked congenital stationary night blindness ?,"The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form.",GHR,X-linked congenital stationary night blindness +What are the genetic changes related to X-linked congenital stationary night blindness ?,"Mutations in the NYX and CACNA1F genes cause the complete and incomplete forms of X-linked congenital stationary night blindness, respectively. The proteins produced from these genes play critical roles in the retina. Within the retina, the NYX and CACNA1F proteins are located on the surface of light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light. Cones are needed for vision in bright light, including color vision. The NYX and CACNA1F proteins ensure that visual signals are passed from rods and cones to other retinal cells called bipolar cells, which is an essential step in the transmission of visual information from the eyes to the brain. Mutations in the NYX or CACNA1F gene disrupt the transmission of visual signals between photoreceptors and retinal bipolar cells, which impairs vision. In people with the complete form of X-linked congenital stationary night blindness (resulting from NYX mutations), the function of rods is severely disrupted, while the function of cones is only mildly affected. In people with the incomplete form of the condition (resulting from CACNA1F mutations), rods and cones are both affected, although they retain some ability to detect light.",GHR,X-linked congenital stationary night blindness +Is X-linked congenital stationary night blindness inherited ?,"This condition is inherited in an X-linked recessive pattern. The NYX and CACNA1F genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an NYX or CACNA1F mutation can pass on the mutated gene, but most do not develop any of the vision problems associated with X-linked congenital stationary night blindness. However, carriers may have retinal changes that can be detected with an electroretinogram.",GHR,X-linked congenital stationary night blindness +What are the treatments for X-linked congenital stationary night blindness ?,"These resources address the diagnosis or management of X-linked congenital stationary night blindness: - American Optometric Association: Infant Vision - Gene Review: Gene Review: X-Linked Congenital Stationary Night Blindness - Genetic Testing Registry: Congenital stationary night blindness - Genetic Testing Registry: Congenital stationary night blindness, type 1A - Genetic Testing Registry: Congenital stationary night blindness, type 2A - MedlinePlus Encyclopedia: Electroretinography - MedlinePlus Encyclopedia: Eye movements - Uncontrollable - MedlinePlus Encyclopedia: Nearsightedness - MedlinePlus Encyclopedia: Strabismus - MedlinePlus Encyclopedia: Vision - Night Blindness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked congenital stationary night blindness +What is (are) Brugada syndrome ?,"Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.",GHR,Brugada syndrome +How many people are affected by Brugada syndrome ?,"The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 times more common in men. Researchers suspect that testosterone, a sex hormone present at much higher levels in men, may account for this difference.",GHR,Brugada syndrome +What are the genetic changes related to Brugada syndrome ?,"Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome. Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart's normal rhythm. In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene.",GHR,Brugada syndrome +Is Brugada syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,Brugada syndrome +What are the treatments for Brugada syndrome ?,These resources address the diagnosis or management of Brugada syndrome: - Gene Review: Gene Review: Brugada Syndrome - Genetic Testing Registry: Brugada syndrome - Genetic Testing Registry: Brugada syndrome 1 - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Brugada syndrome +What is (are) Rabson-Mendenhall syndrome ?,"Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with Rabson-Mendenhall syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high. Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the development of many parts of the body. Affected individuals are unusually small starting before birth, and infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features of the condition that become apparent early in life include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall syndrome include prominent, widely spaced eyes; a broad nose; and large, low-set ears. Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually fatal before age 2) and type A insulin resistance syndrome (which is often not diagnosed until adolescence). People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus, such as a toxic buildup of acids called ketones in the body (diabetic ketoacidosis).",GHR,Rabson-Mendenhall syndrome +How many people are affected by Rabson-Mendenhall syndrome ?,Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.,GHR,Rabson-Mendenhall syndrome +What are the genetic changes related to Rabson-Mendenhall syndrome ?,"Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. The INSR gene mutations that cause Rabson-Mendenhall syndrome reduce the number of insulin receptors that reach the cell membrane or diminish the function of these receptors. Although insulin is present in the bloodstream, without enough functional receptors it is less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and affects many aspects of development in people with Rabson-Mendenhall syndrome.",GHR,Rabson-Mendenhall syndrome +Is Rabson-Mendenhall syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Rabson-Mendenhall syndrome +What are the treatments for Rabson-Mendenhall syndrome ?,These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Rabson-Mendenhall syndrome +What is (are) Alagille syndrome ?,"Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas). Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart (ventricular septal defect) and other heart abnormalities. This combination of heart defects is called tetralogy of Fallot. People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray. Problems associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation. Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder.",GHR,Alagille syndrome +How many people are affected by Alagille syndrome ?,"The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.",GHR,Alagille syndrome +What are the genetic changes related to Alagille syndrome ?,"In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The JAG1 and NOTCH2 genes provide instructions for making proteins that fit together to trigger interactions called Notch signaling between neighboring cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Changes in either the JAG1 gene or NOTCH2 gene probably disrupt the Notch signaling pathway. As a result, errors may occur during development, especially affecting the bile ducts, heart, spinal column, and certain facial features.",GHR,Alagille syndrome +Is Alagille syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new mutations in the gene or new deletions of genetic material on chromosome 20 that occur as random events during the formation of reproductive cells (eggs or sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family.",GHR,Alagille syndrome +What are the treatments for Alagille syndrome ?,These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: Alagille syndrome 1 - Genetic Testing Registry: Arteriohepatic dysplasia - MedlinePlus Encyclopedia: Tetralogy of Fallot These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Alagille syndrome +What is (are) North American Indian childhood cirrhosis ?,"North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.",GHR,North American Indian childhood cirrhosis +How many people are affected by North American Indian childhood cirrhosis ?,"North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported.",GHR,North American Indian childhood cirrhosis +What are the genetic changes related to North American Indian childhood cirrhosis ?,"North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins. Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a UTP4 gene mutation causes the progressive liver damage characteristic of this disorder.",GHR,North American Indian childhood cirrhosis +Is North American Indian childhood cirrhosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,North American Indian childhood cirrhosis +What are the treatments for North American Indian childhood cirrhosis ?,These resources address the diagnosis or management of North American Indian childhood cirrhosis: - Children's Organ Transplant Association - Genetic Testing Registry: North american indian childhood cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,North American Indian childhood cirrhosis +What is (are) pachyonychia congenita ?,"Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Many affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. This condition is known as palmoplantar keratoderma. Severe blisters and calluses on the feet can make it painful or impossible to walk. Pachyonychia congenita can have several additional features, which vary among affected individuals. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Rarely, pachyonychia congenita can affect the voice box (larynx), potentially leading to hoarseness or breathing problems. Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Now researchers prefer to describe pachyonychia congenita based on the gene that is altered.",GHR,pachyonychia congenita +How many people are affected by pachyonychia congenita ?,"Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder.",GHR,pachyonychia congenita +What are the genetic changes related to pachyonychia congenita ?,"Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nails. When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17. Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of severe, painful blisters and calluses. Defective keratins also disrupt the growth and function of cells in the hair follicles and nails, resulting in the other features of pachyonychia congenita.",GHR,pachyonychia congenita +Is pachyonychia congenita inherited ?,"Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GHR,pachyonychia congenita +What are the treatments for pachyonychia congenita ?,"These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Testing Registry: Pachyonychia congenita, type 1 - MedlinePlus Encyclopedia: Nail Abnormalities - MedlinePlus Encyclopedia: Natal Teeth These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,pachyonychia congenita +What is (are) Parkes Weber syndrome ?,"Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), which are present from birth. The capillary malformations increase blood flow near the surface of the skin. They usually look like large, flat, pink stains on the skin, and because of their color are sometimes called ""port-wine stains."" In people with Parkes Weber syndrome, capillary malformations occur together with multiple micro-AVFs, which are tiny abnormal connections between arteries and veins that affect blood circulation. These AVFs can be associated with life-threatening complications including abnormal bleeding and heart failure. Another characteristic feature of Parkes Weber syndrome is overgrowth of one limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues, making one of the limbs longer and larger around than the corresponding one. Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.",GHR,Parkes Weber syndrome +How many people are affected by Parkes Weber syndrome ?,Parkes Weber syndrome is a rare condition; its exact prevalence is unknown.,GHR,Parkes Weber syndrome +What are the genetic changes related to Parkes Weber syndrome ?,"Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. The RASA1 gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system. Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities and limb overgrowth seen in people with Parkes Weber syndrome.",GHR,Parkes Weber syndrome +Is Parkes Weber syndrome inherited ?,"Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic. When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Parkes Weber syndrome +What are the treatments for Parkes Weber syndrome ?,These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Parkes Weber syndrome +What is (are) intrahepatic cholestasis of pregnancy ?,"Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies. This condition causes severe itchiness (pruritus) in the expectant mother. The itchiness usually begins on the palms of the hands and the soles of the feet and then spreads to other parts of the body. Occasionally, affected women have yellowing of the skin and whites of the eyes (jaundice). Some studies have shown that women with intrahepatic cholestasis of pregnancy are more likely to develop gallstones sometime in their life than women who do not have the condition. Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby. This condition is associated with an increased risk of premature delivery and stillbirth. Additionally, some infants born to mothers with intrahepatic cholestasis of pregnancy have a slow heart rate and a lack of oxygen during delivery (fetal distress).",GHR,intrahepatic cholestasis of pregnancy +How many people are affected by intrahepatic cholestasis of pregnancy ?,"Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations.",GHR,intrahepatic cholestasis of pregnancy +What are the genetic changes related to intrahepatic cholestasis of pregnancy ?,"Genetic changes in the ABCB11 or the ABCB4 gene can increase a woman's likelihood of developing intrahepatic cholestasis of pregnancy. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells, which is important for the normal release of bile. Changes in the ABCB11 gene associated with intrahepatic cholestasis of pregnancy reduce the amount or function of the BSEP protein, although enough function remains for sufficient bile secretion under most circumstances. Studies show that the hormones estrogen and progesterone (and products formed during their breakdown), which are elevated during pregnancy, further reduce the function of BSEP, resulting in impaired bile secretion and the features of intrahepatic cholestasis of pregnancy. The ABCB4 gene provides instructions for making a protein that helps move certain fats called phospholipids across cell membranes and release them into bile. Phospholipids attach (bind) to bile acids (another component of bile). Large amounts of bile acids can be toxic when they are not bound to phospholipids. A mutation in one copy of the ABCB4 gene mildly reduces the production of ABCB4 protein. Under most circumstances, though, enough protein is available to move an adequate amount of phospholipids out of liver cells to bind to bile acids. Although the mechanism is unclear, the function of the remaining ABCB4 protein appears to be impaired during pregnancy, which may further reduce the movement of phospholipids into bile. The lack of phospholipids available to bind to bile acids leads to a buildup of toxic bile acids that can impair liver function, including the regulation of bile flow. Most women with intrahepatic cholestasis of pregnancy do not have a genetic change in the ABCB11 or ABCB4 gene. Other genetic and environmental factors likely play a role in increasing susceptibility to this condition.",GHR,intrahepatic cholestasis of pregnancy +Is intrahepatic cholestasis of pregnancy inherited ?,"Susceptibility to intrahepatic cholestasis of pregnancy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. Many other factors likely contribute to the risk of developing this complex disorder.",GHR,intrahepatic cholestasis of pregnancy +What are the treatments for intrahepatic cholestasis of pregnancy ?,These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Cholestasis of pregnancy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,intrahepatic cholestasis of pregnancy +What is (are) Norrie disease ?,"Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop. About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.",GHR,Norrie disease +How many people are affected by Norrie disease ?,Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group.,GHR,Norrie disease +What are the genetic changes related to Norrie disease ?,"Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear, and the development of other body systems. In order to initiate the Wnt cascade, norrin must bind (attach) to another protein called frizzled-4. Mutations in the norrin protein interfere with its ability to bind to frizzled-4, resulting in the signs and symptoms of Norrie disease.",GHR,Norrie disease +Is Norrie disease inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. In rare cases, however, carrier females have shown some retinal abnormalities or mild hearing loss associated with Norrie disease.",GHR,Norrie disease +What are the treatments for Norrie disease ?,These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Norrie disease +What is (are) infantile-onset spinocerebellar ataxia ?,"Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance. People with IOSCA often develop problems with the autonomic nervous system, which controls involuntary body functions. As a result, they may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness. Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy). Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5.",GHR,infantile-onset spinocerebellar ataxia +How many people are affected by infantile-onset spinocerebellar ataxia ?,More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe.,GHR,infantile-onset spinocerebellar ataxia +What are the genetic changes related to infantile-onset spinocerebellar ataxia ?,"Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown. The C10orf2 gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA.",GHR,infantile-onset spinocerebellar ataxia +Is infantile-onset spinocerebellar ataxia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,infantile-onset spinocerebellar ataxia +What are the treatments for infantile-onset spinocerebellar ataxia ?,These resources address the diagnosis or management of IOSCA: - Gene Review: Gene Review: Infantile-Onset Spinocerebellar Ataxia - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,infantile-onset spinocerebellar ataxia +What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ?,"Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks. People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.",GHR,succinyl-CoA:3-ketoacid CoA transferase deficiency +How many people are affected by succinyl-CoA:3-ketoacid CoA transferase deficiency ?,The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature.,GHR,succinyl-CoA:3-ketoacid CoA transferase deficiency +What are the genetic changes related to succinyl-CoA:3-ketoacid CoA transferase deficiency ?,"Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important source of energy during fasting or when energy demands are increased, such as during illness or when exercising. OXCT1 gene mutations result in the production of a SCOT enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur. Individuals with mutations that create an enzyme with partial function are still prone to ketoacidotic attacks, but are less likely to have persistent ketosis.",GHR,succinyl-CoA:3-ketoacid CoA transferase deficiency +Is succinyl-CoA:3-ketoacid CoA transferase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,succinyl-CoA:3-ketoacid CoA transferase deficiency +What are the treatments for succinyl-CoA:3-ketoacid CoA transferase deficiency ?,These resources address the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency: - Genetic Testing Registry: Succinyl-CoA acetoacetate transferase deficiency - MedlinePlus Encyclopedia: Ketones--Urine - MedlinePlus Encyclopedia: Serum Ketones Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,succinyl-CoA:3-ketoacid CoA transferase deficiency +What is (are) hereditary neuropathy with liability to pressure palsies ?,"Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. Hereditary neuropathy with liability to pressure palsies causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). An episode can last from several minutes to several months, but recovery is usually complete. Repeated incidents, however, can cause permanent muscle weakness or loss of sensation. This disorder is also associated with pain in the limbs, especially the hands. A pressure palsy episode results from problems in a single nerve, but any peripheral nerve can be affected. Episodes often recur, but not always at the same site. The most common problem sites involve nerves in wrists, elbows, and knees. Fingers, shoulders, hands, feet, and the scalp can also be affected. Many people with this disorder experience carpal tunnel syndrome when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness in the hand and fingers. An episode in the hand may affect fine motor activities such as writing, opening jars, and fastening buttons. An episode in the leg can make walking, climbing stairs, or driving difficult or impossible. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. Hereditary neuropathy with liability to pressure palsies does not affect life expectancy.",GHR,hereditary neuropathy with liability to pressure palsies +How many people are affected by hereditary neuropathy with liability to pressure palsies ?,"Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals.",GHR,hereditary neuropathy with liability to pressure palsies +What are the genetic changes related to hereditary neuropathy with liability to pressure palsies ?,"Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. Most likely, PMP22 gene mutations affect myelin, the protective substance that covers nerve cells. As a result of these mutations, some of the protective myelin covering may become unstable, which leads to increased sensitivity to pressure on the nerves.",GHR,hereditary neuropathy with liability to pressure palsies +Is hereditary neuropathy with liability to pressure palsies inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary neuropathy with liability to pressure palsies +What are the treatments for hereditary neuropathy with liability to pressure palsies ?,These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary neuropathy with liability to pressure palsies +What is (are) ocular albinism ?,"Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.",GHR,ocular albinism +How many people are affected by ocular albinism ?,"The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females.",GHR,ocular albinism +What are the genetic changes related to ocular albinism ?,"Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in normal vision. Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.",GHR,ocular albinism +Is ocular albinism inherited ?,"Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination.",GHR,ocular albinism +What are the treatments for ocular albinism ?,"These resources address the diagnosis or management of ocular albinism: - Gene Review: Gene Review: Ocular Albinism, X-Linked - Genetic Testing Registry: Albinism ocular late onset sensorineural deafness - Genetic Testing Registry: Albinism, ocular, with sensorineural deafness - Genetic Testing Registry: Ocular albinism, type I - MedlinePlus Encyclopedia: Albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,ocular albinism +What is (are) DOLK-congenital disorder of glycosylation ?,"DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems. Individuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.",GHR,DOLK-congenital disorder of glycosylation +How many people are affected by DOLK-congenital disorder of glycosylation ?,DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific literature.,GHR,DOLK-congenital disorder of glycosylation +What are the genetic changes related to DOLK-congenital disorder of glycosylation ?,"DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. During glycosylation, sugars are added to dolichol phosphate in order to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein. Mutations in the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.",GHR,DOLK-congenital disorder of glycosylation +Is DOLK-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,DOLK-congenital disorder of glycosylation +What are the treatments for DOLK-congenital disorder of glycosylation ?,These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,DOLK-congenital disorder of glycosylation +What is (are) mucolipidosis III gamma ?,"Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems in people with mucolipidosis III gamma also cause pain, which becomes more severe over time. People with mucolipidosis III gamma often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or ""coarse"" as they get older. A small percentage of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III gamma generally survive into adulthood, but they may have a shortened lifespan.",GHR,mucolipidosis III gamma +How many people are affected by mucolipidosis III gamma ?,"Mucolipidosis III gamma is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.",GHR,mucolipidosis III gamma +What are the genetic changes related to mucolipidosis III gamma ?,"Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often ""tagged"" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTG gene that cause mucolipidosis III gamma result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III gamma are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell.",GHR,mucolipidosis III gamma +Is mucolipidosis III gamma inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucolipidosis III gamma +What are the treatments for mucolipidosis III gamma ?,These resources address the diagnosis or management of mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucolipidosis III gamma +What is (are) Hutchinson-Gilford progeria syndrome ?,"Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.",GHR,Hutchinson-Gilford progeria syndrome +How many people are affected by Hutchinson-Gilford progeria syndrome ?,This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.,GHR,Hutchinson-Gilford progeria syndrome +What are the genetic changes related to Hutchinson-Gilford progeria syndrome ?,"Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.",GHR,Hutchinson-Gilford progeria syndrome +Is Hutchinson-Gilford progeria syndrome inherited ?,"Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.",GHR,Hutchinson-Gilford progeria syndrome +What are the treatments for Hutchinson-Gilford progeria syndrome ?,These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome: - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome - Genetic Testing Registry: Hutchinson-Gilford syndrome - MedlinePlus Encyclopedia: Progeria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Hutchinson-Gilford progeria syndrome +What is (are) Northern epilepsy ?,"Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. These seizures typically last less than 5 minutes but can last up to 15 minutes. Some people with Northern epilepsy also experience partial seizures, which do not cause a loss of consciousness. The seizures occur approximately one to two times per month until adolescence; then the frequency decreases to about four to six times per year by early adulthood. By middle age, seizures become even less frequent. Two to 5 years after the start of seizures, people with Northern epilepsy begin to experience a decline in intellectual function, which can result in mild intellectual disability. Problems with coordination usually begin in young adulthood and lead to clumsiness and difficulty with fine motor activities such as writing, using eating utensils, and fastening buttons. During this time, affected individuals often begin to develop balance problems and they walk slowly with short, wide steps. These intellectual and movement problems worsen over time. A loss of sharp vision (reduced visual acuity) may also occur in early to mid-adulthood. Individuals with Northern epilepsy often live into late adulthood, but depending on the severity of the intellectual disability and movement impairments, they may require assistance with tasks of everyday living. Northern epilepsy is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. These disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Northern epilepsy is the mildest form of NCL.",GHR,Northern epilepsy +How many people are affected by Northern epilepsy ?,"Northern epilepsy appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland. Approximately 1 in 10,000 individuals in this region have the condition.",GHR,Northern epilepsy +What are the genetic changes related to Northern epilepsy ?,"Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also help regulate the levels of fats (lipids) in cells. A single CLN8 gene mutation has been identified to cause Northern epilepsy. Nearly all affected individuals have this mutation in both copies of the CLN8 gene in each cell. The effects of this mutation on protein function are unclear. Unlike other forms of NCL that result in the accumulation of large amounts of fatty substances called lipopigments in cells, contributing to cell death, Northern epilepsy is associated with very little lipopigment buildup. People with Northern epilepsy do have mild brain abnormalities resulting from cell death, but the cause of this brain cell death is unknown. It is also unclear how changes in the CLN8 protein and a loss of brain cells cause the neurological problems associated with Northern epilepsy.",GHR,Northern epilepsy +Is Northern epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Northern epilepsy +What are the treatments for Northern epilepsy ?,"These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Northern epilepsy +What is (are) mandibuloacral dysplasia ?,"Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures). People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes. A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs. MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.",GHR,mandibuloacral dysplasia +How many people are affected by mandibuloacral dysplasia ?,Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.,GHR,mandibuloacral dysplasia +What are the genetic changes related to mandibuloacral dysplasia ?,"The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C. The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein. Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia.",GHR,mandibuloacral dysplasia +Is mandibuloacral dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mandibuloacral dysplasia +What are the treatments for mandibuloacral dysplasia ?,These resources address the diagnosis or management of mandibuloacral dysplasia: - Genetic Testing Registry: Mandibuloacral dysostosis - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mandibuloacral dysplasia +What is (are) sporadic hemiplegic migraine ?,"Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days. In sporadic hemiplegic migraine and some other types of migraine, a pattern of neurological symptoms called an aura occurs before onset of the headache. An aura commonly includes temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with sporadic hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour. Some people with sporadic hemiplegic migraine experience unusually severe migraine episodes. These episodes can include fever, prolonged weakness, seizures, and coma. Although most people with sporadic hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. Some affected individuals develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus. Mild to severe intellectual disability has been reported in some people with sporadic hemiplegic migraine.",GHR,sporadic hemiplegic migraine +How many people are affected by sporadic hemiplegic migraine ?,"The worldwide prevalence of sporadic hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine).",GHR,sporadic hemiplegic migraine +What are the genetic changes related to sporadic hemiplegic migraine ?,"Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. The proteins produced from these genes transport charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. Signaling between neurons relies on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Mutations in the ATP1A2 and CACNA1A genes disrupt the transport of ions in neurons, which is thought to impair the normal release and uptake of certain neurotransmitters in the brain. The resulting abnormal signaling may lead to the severe headaches and auras characteristic of sporadic hemiplegic migraine. Many people with sporadic hemiplegic migraine do not have a mutation in one of the known genes. Researchers believe that mutations in other genes are also involved in the condition, although these genes have not been identified. There is little evidence that mutations in the CACNA1A and ATP1A2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as sporadic hemiplegic migraine, as well as the more common forms of migraine.",GHR,sporadic hemiplegic migraine +Is sporadic hemiplegic migraine inherited ?,"Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (When some people with the mutation have no signs and symptoms of the disorder, the condition is said to have reduced penetrance.) Although family members of an affected individual do not have sporadic hemiplegic migraine, some experience migraine headaches without hemiparesis. A related condition, familial hemiplegic migraine, has signs and symptoms identical to those in sporadic hemiplegic migraine but occurs in multiple members of a family.",GHR,sporadic hemiplegic migraine +What are the treatments for sporadic hemiplegic migraine ?,"These resources address the diagnosis or management of sporadic hemiplegic migraine: - Genetic Testing Registry: Migraine, sporadic hemiplegic - Journal of the American Medical Association Patient Page: Migraine Headache These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sporadic hemiplegic migraine +What is (are) Silver syndrome ?,"Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.",GHR,Silver syndrome +How many people are affected by Silver syndrome ?,"Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown.",GHR,Silver syndrome +What are the genetic changes related to Silver syndrome ?,"Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within cells, seipin is found in the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. BSCL2 gene mutations that cause Silver syndrome likely lead to an alteration in the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum. This accumulation likely damages and kills motor neurons, which leads to muscle weakness and spasticity. In Silver syndrome, only specific motor neurons are involved, resulting in the hand and leg muscles being solely affected. Some people with Silver syndrome do not have an identified mutation in the BSCL2 gene. The cause of the condition in these individuals is unknown.",GHR,Silver syndrome +Is Silver syndrome inherited ?,"Silver syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.",GHR,Silver syndrome +What are the treatments for Silver syndrome ?,"These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Silver syndrome +What is (are) methylmalonic acidemia ?,"Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.",GHR,methylmalonic acidemia +How many people are affected by methylmalonic acidemia ?,"This condition occurs in an estimated 1 in 50,000 to 100,000 people.",GHR,methylmalonic acidemia +What are the genetic changes related to methylmalonic acidemia ?,"Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. This gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino acids), certain lipids, and cholesterol. Mutations in the MUT gene alter the enzyme's structure or reduce the amount of the enzyme, which prevents these molecules from being broken down properly. As a result, a substance called methylmalonyl CoA and other potentially toxic compounds can accumulate in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia. Mutations in the MUT gene that prevent the production of any functional enzyme result in a form of the condition designated mut0. Mut0 is the most severe form of methylmalonic acidemia and has the poorest outcome. Mutations that change the structure of methylmalonyl CoA mutase but do not eliminate its activity cause a form of the condition designated mut-. The mut- form is typically less severe, with more variable symptoms than the mut0 form. Some cases of methylmalonic acidemia are caused by mutations in the MMAA, MMAB, or MMADHC gene. Proteins produced from the MMAA, MMAB, and MMADHC genes are needed for the proper function of methylmalonyl CoA mutase. Mutations that affect proteins produced from these three genes can impair the activity of methylmalonyl CoA mutase, leading to methylmalonic acidemia. A few other cases of methylmalonic acidemia are caused by mutations in the MCEE gene. This gene provides instructions for producing an enzyme called methylmalonyl CoA epimerase. Like methylmalonyl CoA mutase, this enzyme also plays a role in the breakdown of amino acids, certain lipids, and cholesterol. Disruption in the function of methylmalonyl CoA epimerase leads to a mild form of methylmalonic acidemia. It is likely that mutations in other, unidentified genes also cause methylmalonic acidemia.",GHR,methylmalonic acidemia +Is methylmalonic acidemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the MUT, MMAA, MMAB, MMADHC, or MCEE gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition are carriers of one copy of the mutated gene but do not show signs and symptoms of the condition.",GHR,methylmalonic acidemia +What are the treatments for methylmalonic acidemia ?,These resources address the diagnosis or management of methylmalonic acidemia: - Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) - Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) - Gene Review: Gene Review: Isolated Methylmalonic Acidemia - Genetic Testing Registry: Methylmalonic acidemia - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD - Genetic Testing Registry: Methylmalonic aciduria cblA type - Genetic Testing Registry: Methylmalonic aciduria cblB type - Genetic Testing Registry: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency - Genetic Testing Registry: Methylmalonyl-CoA epimerase deficiency - MedlinePlus Encyclopedia: Methylmalonic acid - MedlinePlus Encyclopedia: Methylmalonic acidemia - New England Consortium of Metabolic Programs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,methylmalonic acidemia +What is (are) dilated cardiomyopathy with ataxia syndrome ?,"Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected individuals also have long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats. The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden death. Rarely, heart problems improve over time; however, in most cases of DCMA syndrome, affected individuals do not survive past childhood due to heart failure. A small percentage of people with DCMA syndrome have no heart problems at all. By age 2, children with DCMA syndrome have problems with coordination and balance (ataxia). These movement problems can result in delay of motor skills such as standing and walking, but most older children with DCMA syndrome can walk without support. In addition to heart problems and movement difficulties, most individuals with DCMA syndrome grow slowly before and after birth, which leads to short stature. Additionally, many affected individuals have mild intellectual disability. Many males with DCMA syndrome have genital abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). Other common features of DCMA syndrome include unusually small red blood cells (microcytic anemia), which can cause pale skin; an abnormal buildup of fats in the liver (hepatic steatosis), which can damage the liver; and the degeneration of nerve cells that carry visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss. DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of acid does not appear to influence the signs and symptoms of the condition. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine levels of another acid called 3-methylglutaric acid.",GHR,dilated cardiomyopathy with ataxia syndrome +How many people are affected by dilated cardiomyopathy with ataxia syndrome ?,DCMA syndrome is a very rare disorder. Approximately 30 cases have been identified in the Dariusleut Hutterite population of the Great Plains region of Canada. Only a few affected individuals have been identified outside this population.,GHR,dilated cardiomyopathy with ataxia syndrome +What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ?,"Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and out of mitochondria. The DNAJC19 gene mutations that cause DCMA syndrome lead to the production of an abnormally shortened protein that likely has impaired function. Researchers speculate that a lack of functional DNAJC19 protein alters the transport of other proteins into and out of the mitochondria. When too many or too few proteins move in and out of the mitochondria, energy production and mitochondrial survival can be reduced. Tissues that have high energy demands, such as the heart and the brain, are especially susceptible to decreases in cellular energy production. It is likely that this loss of cellular energy damages these and other tissues, leading to heart problems, movement difficulties, and other features of DCMA syndrome.",GHR,dilated cardiomyopathy with ataxia syndrome +Is dilated cardiomyopathy with ataxia syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dilated cardiomyopathy with ataxia syndrome +What are the treatments for dilated cardiomyopathy with ataxia syndrome ?,"These resources address the diagnosis or management of dilated cardiomyopathy with ataxia syndrome: - Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy - Baby's First Test - Genetic Testing Registry: 3-methylglutaconic aciduria type V - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,dilated cardiomyopathy with ataxia syndrome +What is (are) WAGR syndrome ?,"WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary anomaly in affected males is undescended testes (cryptorchidism). Females may not have functional ovaries and instead have undeveloped clumps of tissue called streak gonads. Females may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term. Another common feature of WAGR syndrome is intellectual disability. Affected individuals often have difficulty processing, learning, and properly responding to information. Some individuals with WAGR syndrome also have psychiatric or behavioral problems including depression, anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism that affects communication and social interaction. Other signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.",GHR,WAGR syndrome +How many people are affected by WAGR syndrome ?,"The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.",GHR,WAGR syndrome +What are the genetic changes related to WAGR syndrome ?,"WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes. The PAX6 and WT1 genes are always deleted in people with the typical signs and symptoms of this disorder. Because changes in the PAX6 gene can affect eye development, researchers think that the loss of the PAX6 gene is responsible for the characteristic eye features of WAGR syndrome. The PAX6 gene may also affect brain development. Wilms tumor and genitourinary abnormalities are often the result of mutations in the WT1 gene, so deletion of the WT1 gene is very likely the cause of these features in WAGR syndrome. In people with WAGRO syndrome, the chromosome 11 deletion includes an additional gene, BDNF. This gene is active (expressed) in the brain and plays a role in the survival of nerve cells (neurons). The protein produced from the BDNF gene is thought to be involved in the management of eating, drinking, and body weight. Loss of the BDNF gene is likely responsible for childhood-onset obesity in people with WAGRO syndrome. People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and autism than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes. Research is ongoing to identify additional genes deleted in people with WAGR syndrome and to determine how their loss leads to the other features of the disorder.",GHR,WAGR syndrome +Is WAGR syndrome inherited ?,"Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Some affected individuals inherit a chromosome 11 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with WAGR syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 11, which results in an increased risk of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.",GHR,WAGR syndrome +What are the treatments for WAGR syndrome ?,"These resources address the diagnosis or management of WAGR syndrome: - Gene Review: Gene Review: Aniridia - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: 11p partial monosomy syndrome - Genetic Testing Registry: Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome - MedlinePlus Encyclopedia: Undescended Testicle These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,WAGR syndrome +What is (are) factor V Leiden thrombophilia ?,"Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. Although factor V Leiden thrombophilia increases the risk of blood clots, only about 10 percent of individuals with the factor V Leiden mutation ever develop abnormal clots. The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies.",GHR,factor V Leiden thrombophilia +How many people are affected by factor V Leiden thrombophilia ?,"Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations.",GHR,factor V Leiden thrombophilia +What are the genetic changes related to factor V Leiden thrombophilia ?,"A particular mutation in the F5 gene causes factor V Leiden thrombophilia. The F5 gene provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. The coagulation system is controlled by several proteins, including a protein called activated protein C (APC). APC normally inactivates coagulation factor V, which slows down the clotting process and prevents clots from growing too large. However, in people with factor V Leiden thrombophilia, coagulation factor V cannot be inactivated normally by APC. As a result, the clotting process remains active longer than usual, increasing the chance of developing abnormal blood clots. Other factors also increase the risk of developing blood clots in people with factor V Leiden thrombophilia. These factors include increasing age, obesity, injury, surgery, smoking, pregnancy, and the use of oral contraceptives (birth control pills) or hormone replacement therapy. The risk of abnormal clots is also much higher in people who have a combination of the factor V Leiden mutation and another mutation in the F5 gene. Additionally, the risk is increased in people who have the factor V Leiden mutation together with a mutation in another gene involved in the coagulation system.",GHR,factor V Leiden thrombophilia +Is factor V Leiden thrombophilia inherited ?,"The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000.",GHR,factor V Leiden thrombophilia +What are the treatments for factor V Leiden thrombophilia ?,These resources address the diagnosis or management of factor V Leiden thrombophilia: - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing - Gene Review: Gene Review: Factor V Leiden Thrombophilia - GeneFacts: Factor V Leiden-Associated Thrombosis: Diagnosis - GeneFacts: Factor V Leiden-Associated Thrombosis: Management - Genetic Testing Registry: Thrombophilia due to activated protein C resistance - Genetic Testing Registry: Thrombophilia due to factor V Leiden - MedlinePlus Encyclopedia: Deep Venous Thrombosis - MedlinePlus Encyclopedia: Pulmonary Embolus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,factor V Leiden thrombophilia +What is (are) Hirschsprung disease ?,"Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood. Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine. This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis). Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.",GHR,Hirschsprung disease +How many people are affected by Hirschsprung disease ?,"Hirschsprung disease occurs in approximately 1 in 5,000 newborns.",GHR,Hirschsprung disease +What are the genetic changes related to Hirschsprung disease ?,"Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine. Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. Without RET protein signaling, enteric nerves do not develop properly. Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease. The EDNRB gene provides instructions for making a protein called endothelin receptor type B. When this protein interacts with other proteins called endothelins, it transmits information from outside the cell to inside the cell, signaling for many important cellular processes. The EDN3 gene provides instructions for a protein called endothelin 3, one of the endothelins that interacts with endothelin receptor type B. Together, endothelin 3 and endothelin receptor type B play an important role in the normal formation of enteric nerves. Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. As a result, these nerves do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage.",GHR,Hirschsprung disease +Is Hirschsprung disease inherited ?,"Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell may be sufficient to cause the disorder. The inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops Hirschsprung disease.",GHR,Hirschsprung disease +What are the treatments for Hirschsprung disease ?,"These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung disease 1 - Genetic Testing Registry: Hirschsprung disease 2 - Genetic Testing Registry: Hirschsprung disease 3 - Genetic Testing Registry: Hirschsprung disease 4 - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Hirschsprung's Disease - Seattle Children's: Hirschsprung's Disease: Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Hirschsprung disease +What is (are) Waardenburg syndrome ?,"Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.",GHR,Waardenburg syndrome +How many people are affected by Waardenburg syndrome ?,"Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.",GHR,Waardenburg syndrome +What are the genetic changes related to Waardenburg syndrome ?,"Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing. Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome. Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.",GHR,Waardenburg syndrome +Is Waardenburg syndrome inherited ?,"Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family. Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.",GHR,Waardenburg syndrome +What are the treatments for Waardenburg syndrome ?,These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genetic Testing Registry: Waardenburg syndrome type 2A - Genetic Testing Registry: Waardenburg syndrome type 2B - Genetic Testing Registry: Waardenburg syndrome type 2C - Genetic Testing Registry: Waardenburg syndrome type 2D - Genetic Testing Registry: Waardenburg syndrome type 4A - MedlinePlus Encyclopedia: Waardenburg Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Waardenburg syndrome +What is (are) primary ciliary dyskinesia ?,"Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward. In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems. Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals. Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes. Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear. Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.",GHR,primary ciliary dyskinesia +How many people are affected by primary ciliary dyskinesia ?,"Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.",GHR,primary ciliary dyskinesia +What are the genetic changes related to primary ciliary dyskinesia ?,"Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the left-right axis (the imaginary line that separates the left and right sides of the body) during embryonic development. Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. Mutations in the DNAI1 and DNAH5 genes account for up to 30 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.",GHR,primary ciliary dyskinesia +Is primary ciliary dyskinesia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,primary ciliary dyskinesia +What are the treatments for primary ciliary dyskinesia ?,"These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genetic Testing Registry: Primary ciliary dyskinesia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,primary ciliary dyskinesia +What is (are) MyD88 deficiency ?,"MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10. Children with MyD88 deficiency develop invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.",GHR,MyD88 deficiency +How many people are affected by MyD88 deficiency ?,The prevalence of MyD88 deficiency is unknown. At least 24 affected individuals have been described in the medical literature.,GHR,MyD88 deficiency +What are the genetic changes related to MyD88 deficiency ?,"MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response. Mutations in the MYD88 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional MyD88 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive. Researchers suggest that as the immune system matures, other systems compensate for the loss of MyD88 protein, accounting for the improvement in the condition that occurs by adolescence.",GHR,MyD88 deficiency +Is MyD88 deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,MyD88 deficiency +What are the treatments for MyD88 deficiency ?,These resources address the diagnosis or management of MyD88 deficiency: - Genetic Testing Registry: Myd88 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,MyD88 deficiency +What is (are) Marinesco-Sjgren syndrome ?,"Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjgren syndrome may experience further decline in muscle function later in life. Most people with Marinesco-Sjgren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjgren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria). Affected individuals may have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, puberty is either delayed or absent.",GHR,Marinesco-Sjgren syndrome +How many people are affected by Marinesco-Sjgren syndrome ?,Marinesco-Sjgren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.,GHR,Marinesco-Sjgren syndrome +What are the genetic changes related to Marinesco-Sjgren syndrome ?,"Mutations in the SIL1 gene cause Marinesco-Sjgren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. The SIL1 protein plays a role in the process of protein folding. SIL1 gene mutations result in the production of a protein that has little or no activity. A lack of SIL1 protein is thought to impair protein folding, which could disrupt protein transport and cause proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to ataxia, myopathy, and the other features of Marinesco-Sjgren syndrome. Approximately one-third of people with Marinesco-Sjgren syndrome do not have identified mutations in the SIL1 gene. In these cases, the cause of the condition is unknown.",GHR,Marinesco-Sjgren syndrome +Is Marinesco-Sjgren syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Marinesco-Sjgren syndrome +What are the treatments for Marinesco-Sjgren syndrome ?,These resources address the diagnosis or management of Marinesco-Sjgren syndrome: - Gene Review: Gene Review: Marinesco-Sjogren Syndrome - Genetic Testing Registry: Marinesco-Sjgren syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Hypogonadism - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Marinesco-Sjgren syndrome +What is (are) renal tubular acidosis with deafness ?,"Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones. The metabolic acidosis that occurs in renal tubular acidosis with deafness may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis with deafness have episodes of hypokalemic paralysis, a condition that causes extreme muscle weakness associated with low levels of potassium in the blood (hypokalemia). In people with renal tubular acidosis with deafness, hearing loss caused by changes in the inner ear (sensorineural hearing loss) usually begins between childhood and young adulthood, and gradually gets worse. An inner ear abnormality affecting both ears occurs in most people with this disorder. This feature, which is called enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that runs from the inner ear into the temporal bone of the skull and toward the brain. The relationship between enlarged vestibular aqueduct and hearing loss is unclear. In renal tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in individuals whose hearing loss begins in childhood.",GHR,renal tubular acidosis with deafness +How many people are affected by renal tubular acidosis with deafness ?,Renal tubular acidosis with deafness is a rare disorder; its prevalence is unknown.,GHR,renal tubular acidosis with deafness +What are the genetic changes related to renal tubular acidosis with deafness ?,"Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Because acids are substances that can ""donate"" protons to other molecules, this movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly. The V-ATPase that includes subunits produced from the ATP6V1B1 and ATP6V0A4 genes is found in the inner ear and in nephrons, which are the functional structures within the kidneys. Each nephron consists of two parts: a renal corpuscle (also known as a glomerulus) that filters the blood, and a renal tubule that reabsorbs substances that are needed and eliminates unneeded substances in urine. The V-ATPase is involved in regulating the amount of acid that is removed from the blood into the urine, and also in maintaining the proper pH of the fluid in the inner ear (endolymph). Mutations in the ATP6V1B1 or ATP6V0A4 gene impair the function of the V-ATPase complex and reduce the body's capability to control the pH of the blood and the fluid in the inner ear, resulting in the signs and symptoms of renal tubular acidosis with deafness.",GHR,renal tubular acidosis with deafness +Is renal tubular acidosis with deafness inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,renal tubular acidosis with deafness +What are the treatments for renal tubular acidosis with deafness ?,These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,renal tubular acidosis with deafness +What is (are) 5q minus syndrome ?,"5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cell fragments involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets. MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.",GHR,5q minus syndrome +How many people are affected by 5q minus syndrome ?,"MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.",GHR,5q minus syndrome +What are the genetic changes related to 5q minus syndrome ?,"5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell. The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.",GHR,5q minus syndrome +Is 5q minus syndrome inherited ?,This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.,GHR,5q minus syndrome +What are the treatments for 5q minus syndrome ?,These resources address the diagnosis or management of 5q minus syndrome: - American Cancer Society: How are Myelodysplastic Syndromes Diagnosed? - Cancer.Net: MyelodysplasticSyndromes: Treatment Options - Genetic Testing Registry: 5q- syndrome - National Cancer Institute: FDA Approval for Lenalidomide These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,5q minus syndrome +What is (are) complement factor I deficiency ?,"Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening. Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.",GHR,complement factor I deficiency +How many people are affected by complement factor I deficiency ?,Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature.,GHR,complement factor I deficiency +What are the genetic changes related to complement factor I deficiency ?,"Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed. Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.",GHR,complement factor I deficiency +Is complement factor I deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,complement factor I deficiency +What are the treatments for complement factor I deficiency ?,These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,complement factor I deficiency +What is (are) metachromatic leukodystrophy ?,"Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder. The most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood. In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis. The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcoholism, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline. Metachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.",GHR,metachromatic leukodystrophy +How many people are affected by metachromatic leukodystrophy ?,"Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel.",GHR,metachromatic leukodystrophy +What are the genetic changes related to metachromatic leukodystrophy ?,"Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A few individuals with metachromatic leukodystrophy have mutations in the PSAP gene. This gene provides instructions for making a protein that is broken up (cleaved) into smaller proteins that assist enzymes in breaking down various fats. One of these smaller proteins is called saposin B; this protein works with arylsulfatase A to break down sulfatides. Mutations in the ARSA or PSAP genes result in a decreased ability to break down sulfatides, resulting in the accumulation of these substances in cells. Excess sulfatides are toxic to the nervous system. The accumulation gradually destroys myelin-producing cells, leading to the impairment of nervous system function that occurs in metachromatic leukodystrophy. In some cases, individuals with very low arylsulfatase A activity show no symptoms of metachromatic leukodystrophy. This condition is called pseudoarylsulfatase deficiency.",GHR,metachromatic leukodystrophy +Is metachromatic leukodystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,metachromatic leukodystrophy +What are the treatments for metachromatic leukodystrophy ?,These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protein 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,metachromatic leukodystrophy +What is (are) episodic ataxia ?,"Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.",GHR,episodic ataxia +How many people are affected by episodic ataxia ?,"Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition.",GHR,episodic ataxia +What are the genetic changes related to episodic ataxia ?,"Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. Mutations in the KCNA1, CACNA1A, and CACNB4 genes are responsible for episodic ataxia types 1, 2, and 5, respectively. Mutations in the SLC1A3 gene have been found to cause episodic ataxia type 6. This gene provides instructions for making a protein that transports a brain chemical (neurotransmitter) called glutamate. Neurotransmitters, including glutamate, allow neurons to communicate by relaying chemical signals from one neuron to another. Researchers believe that mutations in the KCNA1, CACNA1A, CACNB4, and SLC1A3 genes alter the transport of ions and glutamate in the brain, which causes certain neurons to become overexcited and disrupts normal communication between these cells. Although changes in chemical signaling in the brain underlie the recurrent attacks seen in people with episodic ataxia, it is unclear how mutations in these genes cause the specific features of the disorder. The genetic causes of episodic ataxia types 3, 4, and 7 have not been identified. Researchers are looking for additional genes that can cause episodic ataxia.",GHR,episodic ataxia +Is episodic ataxia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,episodic ataxia +What are the treatments for episodic ataxia ?,"These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 - Genetic Testing Registry: Episodic ataxia type 1 - Genetic Testing Registry: Episodic ataxia type 2 - Genetic Testing Registry: Episodic ataxia, type 3 - Genetic Testing Registry: Episodic ataxia, type 4 - Genetic Testing Registry: Episodic ataxia, type 7 - MedlinePlus Encyclopedia: Movement - uncoordinated - MedlinePlus Encyclopedia: Vertigo-associated disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,episodic ataxia +What is (are) REN-related kidney disease ?,"REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70. People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.",GHR,REN-related kidney disease +How many people are affected by REN-related kidney disease ?,REN-related kidney disease is a rare condition. At least three families with this condition have been identified.,GHR,REN-related kidney disease +What are the genetic changes related to REN-related kidney disease ?,"Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease.",GHR,REN-related kidney disease +Is REN-related kidney disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,REN-related kidney disease +What are the treatments for REN-related kidney disease ?,"These resources address the diagnosis or management of REN-related kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN) - Genetic Testing Registry: Hyperuricemic nephropathy, familial juvenile, 2 - MedlinePlus Encyclopedia: Hyperkalemia - MedlinePlus Encyclopedia: Renin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,REN-related kidney disease +What is (are) Sotos syndrome ?,"Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range. People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have a stutter, a monotone voice, and problems with sound production. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have an increased cancer risk, it is only slightly greater than that of the general population.",GHR,Sotos syndrome +How many people are affected by Sotos syndrome ?,"Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.",GHR,Sotos syndrome +What are the genetic changes related to Sotos syndrome ?,"Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of certain genes and can turn them on and off as needed. The NSD1 protein controls the activity of genes involved in normal growth and development, although most of these genes have not been identified. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.",GHR,Sotos syndrome +Is Sotos syndrome inherited ?,About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.,GHR,Sotos syndrome +What are the treatments for Sotos syndrome ?,These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Sotos syndrome +What is (are) Friedreich ataxia ?,"Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear. About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.",GHR,Friedreich ataxia +How many people are affected by Friedreich ataxia ?,"Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups.",GHR,Friedreich ataxia +What are the genetic changes related to Friedreich ataxia ?,"Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.",GHR,Friedreich ataxia +Is Friedreich ataxia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Friedreich ataxia +What are the treatments for Friedreich ataxia ?,These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy - National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Friedreich ataxia +What is (are) chronic atrial and intestinal dysrhythmia ?,"Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of the sinoatrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally, which usually causes the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia) or rapidly switches from being too fast to being too slow (tachycardia-bradycardia syndrome). Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup of partially digested food in the intestines, abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those caused by an intestinal blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no such blockage is found.",GHR,chronic atrial and intestinal dysrhythmia +How many people are affected by chronic atrial and intestinal dysrhythmia ?,The prevalence of CAID is unknown. At least 17 affected individuals have been described in the medical literature.,GHR,chronic atrial and intestinal dysrhythmia +What are the genetic changes related to chronic atrial and intestinal dysrhythmia ?,"CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division. Researchers suggest that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the SA node, resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID. It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the SA node and in cells that help control peristalsis may account for the features of the disorder.",GHR,chronic atrial and intestinal dysrhythmia +Is chronic atrial and intestinal dysrhythmia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,chronic atrial and intestinal dysrhythmia +What are the treatments for chronic atrial and intestinal dysrhythmia ?,"These resources address the diagnosis or management of chronic atrial and intestinal dysrhythmia: - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia - MedlinePlus Encyclopedia: Heart Pacemakers - MedlinePlus Health Topic: Nutritional Support - MedlinePlus Health Topic: Pacemakers and Implantable Defibrillators - National Heart, Lung, and Blood Institute: What is a Pacemaker? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,chronic atrial and intestinal dysrhythmia +What is (are) mucopolysaccharidosis type VI ?,"Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as ""coarse,"" and a large tongue (macroglossia). Affected individuals also frequently develop heart valve abnormalities, an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VI, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. People with MPS VI may also have recurrent ear infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI does not affect intelligence. MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VI may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. The life expectancy of individuals with MPS VI depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Heart disease and airway obstruction are major causes of death in people with MPS VI.",GHR,mucopolysaccharidosis type VI +How many people are affected by mucopolysaccharidosis type VI ?,"The exact incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns.",GHR,mucopolysaccharidosis type VI +What are the genetic changes related to mucopolysaccharidosis type VI ?,"Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the ARSB gene reduce or completely eliminate the function of arylsulfatase B. The lack of arylsulfatase B activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of the cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.",GHR,mucopolysaccharidosis type VI +Is mucopolysaccharidosis type VI inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucopolysaccharidosis type VI +What are the treatments for mucopolysaccharidosis type VI ?,These resources address the diagnosis or management of mucopolysaccharidosis type VI: - Emory University Lysosomal Storage Disease Center - Genetic Testing Registry: Mucopolysaccharidosis type VI - MedlinePlus Encyclopedia: Mucopolysaccharides - National Institute of Neurological Disorders and Stroke: Mucopolysaccharidoses Fact Sheet - National MPS Society: Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucopolysaccharidosis type VI +What is (are) familial osteochondritis dissecans ?,"Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.",GHR,familial osteochondritis dissecans +How many people are affected by familial osteochondritis dissecans ?,"Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals.",GHR,familial osteochondritis dissecans +What are the genetic changes related to familial osteochondritis dissecans ?,"Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature. Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited.",GHR,familial osteochondritis dissecans +Is familial osteochondritis dissecans inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,familial osteochondritis dissecans +What are the treatments for familial osteochondritis dissecans ?,These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial osteochondritis dissecans +What is (are) age-related macular degeneration ?,"Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected. Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and slowly progressive vision loss. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.",GHR,age-related macular degeneration +How many people are affected by age-related macular degeneration ?,"Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases. For reasons that are unclear, age-related macular degeneration affects individuals of European descent more frequently than African Americans in the United States.",GHR,age-related macular degeneration +What are the genetic changes related to age-related macular degeneration ?,"Age-related macular degeneration results from a combination of genetic and environmental factors. Many of these factors have been identified, but some remain unknown. Researchers have considered changes in many genes as possible risk factors for age-related macular degeneration. The best-studied of these genes are involved in a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. Genetic changes in and around several complement system genes, including the CFH gene, contribute to a person's risk of developing age-related macular degeneration. It is unclear how these genetic changes are related to the retinal damage and vision loss characteristic of this condition. Changes on the long (q) arm of chromosome 10 in a region known as 10q26 are also associated with an increased risk of age-related macular degeneration. The 10q26 region contains two genes of interest, ARMS2 and HTRA1. Changes in both genes have been studied as possible risk factors for the disease. However, because the two genes are so close together, it is difficult to tell which gene is associated with age-related macular degeneration risk, or whether increased risk results from variations in both genes. Other genes that are associated with age-related macular degeneration include genes involved in transporting and processing high-density lipoprotein (HDL, also known as ""good"" cholesterol) and genes that have been associated with other forms of macular disease. Researchers have also examined nongenetic factors that contribute to the risk of age-related macular degeneration. Age appears to be the most important risk factor; the chance of developing the condition increases significantly as a person gets older. Smoking is another established risk factor for age-related macular degeneration. Other factors that may increase the risk of this condition include high blood pressure, heart disease, a high-fat diet or one that is low in certain nutrients (such as antioxidants and zinc), obesity, and exposure to ultraviolet (UV) rays from sunlight. However, studies of these factors in age-related macular degeneration have had conflicting results",GHR,age-related macular degeneration +Is age-related macular degeneration inherited ?,"Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition.",GHR,age-related macular degeneration +What are the treatments for age-related macular degeneration ?,"These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular degeneration 1 - Genetic Testing Registry: Age-related macular degeneration 10 - Genetic Testing Registry: Age-related macular degeneration 11 - Genetic Testing Registry: Age-related macular degeneration 2 - Genetic Testing Registry: Age-related macular degeneration 3 - Genetic Testing Registry: Age-related macular degeneration 4 - Genetic Testing Registry: Age-related macular degeneration 7 - Genetic Testing Registry: Age-related macular degeneration 9 - Genetic Testing Registry: Susceptibility to age-related macular degeneration, wet type - Genetic Testing Registry: Susceptibility to neovascular type of age-related macular degeneration - Macular Degeneration Partnership: Low Vision Rehabilitation - Prevent Blindness America: Age-Related Macular Degeneration (AMD) Test - Amsler Grid These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,age-related macular degeneration +What is (are) SLC4A1-associated distal renal tubular acidosis ?,"SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern (described below). The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells.",GHR,SLC4A1-associated distal renal tubular acidosis +How many people are affected by SLC4A1-associated distal renal tubular acidosis ?,"The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand.",GHR,SLC4A1-associated distal renal tubular acidosis +What are the genetic changes related to SLC4A1-associated distal renal tubular acidosis ?,"Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). The AE1 protein is found in the cell membrane of kidney cells and red blood cells. In kidney cells, the exchange of bicarbonate through AE1 allows acid to be released from the cell into the urine. In red blood cells, AE1 attaches to other proteins that make up the structural framework (the cytoskeleton) of the cells, helping to maintain their structure. The SLC4A1 gene mutations involved in either form of SLC4A1-associated distal renal tubular acidosis lead to production of altered AE1 proteins that cannot get to the correct location in the cell membrane. In the autosomal dominant form of the condition, gene mutations affect only one copy of the SLC4A1 gene, and normal AE1 protein is produced from the other copy. However, the altered protein attaches to the normal protein and keeps it from getting to the correct location, leading to a severe reduction or absence of AE1 protein in the cell membrane. In autosomal recessive distal renal tubular acidosis, both copies of the SLC4A1 gene are mutated, so all of the protein produced from this gene is altered and not able to get to the correct location. Improper location or absence of AE1 in kidney cell membranes disrupts bicarbonate exchange, and as a result, acid cannot be released into the urine. Instead, the acid builds up in the blood in most affected individuals, leading to metabolic acidosis and the other features of complete distal renal tubular acidosis. It is not clear why some people develop metabolic acidosis and others do not. Researchers suggest that in individuals with incomplete distal renal tubular acidosis, another mechanism is able to help regulate blood acidity (pH) and keep metabolic acidosis from developing. In red blood cells, interaction with a protein called glycophorin A can often help the altered AE1 protein get to the cell membrane where it can perform its function, which explains why most people with SLC4A1-associated distal renal tubular acidosis do not have blood cell abnormalities. However, some altered AE1 proteins cannot be helped by glycophorin A and are not found in the cell membrane. Without AE1, the red blood cells are unstable; breakdown of these abnormal red blood cells may lead to hemolytic anemia. Some people have nonhereditary forms of distal renal tubular acidosis; these forms can be caused by immune system problems or other conditions that damage the kidneys. These individuals often have additional signs and symptoms related to the original condition.",GHR,SLC4A1-associated distal renal tubular acidosis +Is SLC4A1-associated distal renal tubular acidosis inherited ?,"SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, SLC4A1-associated distal renal tubular acidosis has an autosomal recessive pattern of inheritance, which means a mutation must occur in both copies of the SLC4A1 gene for the condition to develop. This pattern occurs with certain types of SLC4A1 gene mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,SLC4A1-associated distal renal tubular acidosis +What are the treatments for SLC4A1-associated distal renal tubular acidosis ?,"These resources address the diagnosis or management of SLC4A1-associated distal renal tubular acidosis: - Genetic Testing Registry: Renal tubular acidosis, distal, autosomal dominant - Genetic Testing Registry: Renal tubular acidosis, distal, with hemolytic anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,SLC4A1-associated distal renal tubular acidosis +What is (are) Lenz microphthalmia syndrome ?,"Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. People with this condition are born with eyeballs that are abnormally small (microphthalmia) or absent (anophthalmia), leading to vision loss or blindness. Other eye problems can include clouding of the lens (cataract), involuntary eye movements (nystagmus), a gap or split in structures that make up the eye (coloboma), and a higher risk of an eye disease called glaucoma. Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also frequently seen in Lenz microphthalmia syndrome. Less commonly, heart defects have been reported in affected individuals. Many people with this condition have delayed development or intellectual disability ranging from mild to severe.",GHR,Lenz microphthalmia syndrome +How many people are affected by Lenz microphthalmia syndrome ?,Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide.,GHR,Lenz microphthalmia syndrome +What are the genetic changes related to Lenz microphthalmia syndrome ?,"Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. A mutation in the BCOR gene has been found in one family with Lenz microphthalmia syndrome. This mutation changes the structure of the BCL6 corepressor protein, which disrupts the normal development of the eyes and several other organs and tissues before birth. Researchers are working to determine whether Lenz microphthalmia syndrome is a single disorder with different genetic causes or two very similar disorders, each caused by mutations in a different gene. They are searching for a second gene on the X chromosome that may underlie additional cases of the disorder.",GHR,Lenz microphthalmia syndrome +Is Lenz microphthalmia syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Lenz microphthalmia syndrome +What are the treatments for Lenz microphthalmia syndrome ?,These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Lenz microphthalmia syndrome +What is (are) fragile XE syndrome ?,"Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally. Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome.",GHR,fragile XE syndrome +How many people are affected by fragile XE syndrome ?,"Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported.",GHR,fragile XE syndrome +What are the genetic changes related to fragile XE syndrome ?,"Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved in the process by which the blueprint for making proteins is cut and rearranged to produce different versions of the protein (alternative splicing). Researchers are working to determine which genes and proteins are affected by AFF2. Nearly all cases of fragile XE syndrome occur when a region of the AFF2 gene, known as the CCG trinucleotide repeat, is abnormally expanded. Normally, this segment of three DNA building blocks (nucleotides) is repeated approximately 4 to 40 times. However, in people with fragile XE syndrome, the CCG segment is repeated more than 200 times, which makes this region of the gene unstable. (When expanded, this region is known as the FRAXE fragile site.) As a result, the AFF2 gene is turned off (silenced), and no AFF2 protein is produced. It is unclear how a shortage of this protein leads to intellectual disability in people with fragile XE syndrome. People with 50 to 200 CCG repeats are said to have an AFF2 gene premutation. Current research suggests that people with a premutation do not have associated cognitive problems.",GHR,fragile XE syndrome +Is fragile XE syndrome inherited ?,"Fragile XE syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. In parents with the AFF2 gene premutation, the number of CCG repeats can expand to more than 200 in cells that develop into eggs or sperm. This means that parents with the premutation have an increased risk of having a child with fragile XE syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons; sons receive a Y chromosome from their father, which does not include the AFF2 gene.",GHR,fragile XE syndrome +What are the treatments for fragile XE syndrome ?,These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fragile XE syndrome +What is (are) Pallister-Killian mosaic syndrome ?,"Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as ""coarse."" Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. Some affected children are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. Many affected individuals also have streaks or patches of skin that are darker or lighter than the surrounding skin. These skin changes can occur anywhere on the body, and they may be apparent at birth or occur later in life. Additional features of Pallister-Killian mosaic syndrome can include hearing loss, vision impairment, seizures, extra nipples, genital abnormalities, and heart defects. Affected individuals may also have skeletal abnormalities such as extra fingers and/or toes, large big toes (halluces), and unusually short arms and legs. About 40 percent of affected infants are born with a congenital diaphragmatic hernia, which is a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm). This potentially serious birth defect allows the stomach and intestines to move into the chest, where they can crowd the developing heart and lungs. The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. The most severe cases involve birth defects that are life-threatening in early infancy. However, several affected people have had milder features, including mild intellectual disability and less noticeable physical abnormalities.",GHR,Pallister-Killian mosaic syndrome +How many people are affected by Pallister-Killian mosaic syndrome ?,"Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature.",GHR,Pallister-Killian mosaic syndrome +What are the genetic changes related to Pallister-Killian mosaic syndrome ?,"Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by the presence of an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.",GHR,Pallister-Killian mosaic syndrome +Is Pallister-Killian mosaic syndrome inherited ?,"Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Affected individuals have no history of the disorder in their families. An error in cell division called nondisjunction likely results in a reproductive cell containing an isochromosome 12p. If this atypical reproductive cell contributes to the genetic makeup of a child, the child will have two normal copies of chromosome 12 along with an isochromosome 12p. As cells divide during early development, some cells lose the isochromosome 12p, while other cells retain the abnormal chromosome. This situation is called mosaicism. Almost all cases of Pallister-Killian mosaic syndrome are caused by mosaicism for an isochromosome 12p. If all of the body's cells contained the isochromosome, the resulting syndrome would probably not be compatible with life.",GHR,Pallister-Killian mosaic syndrome +What are the treatments for Pallister-Killian mosaic syndrome ?,These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pallister-Killian mosaic syndrome +What is (are) erythromelalgia ?,"Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly. The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.",GHR,erythromelalgia +How many people are affected by erythromelalgia ?,The prevalence of erythromelalgia is unknown.,GHR,erythromelalgia +What are the genetic changes related to erythromelalgia ?,"Mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The SCN9A gene mutations that cause erythromelalgia result in NaV1.7 sodium channels that open more easily than usual and stays open longer than normal, increasing the flow of sodium ions into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the signs and symptoms of erythromelalgia. It is unknown why the pain episodes associated with erythromelalgia mainly occur in the hands and feet. An estimated 15 percent of cases of erythromelalgia are caused by mutations in the SCN9A gene. Other cases are thought to have a nongenetic cause or may be caused by mutations in one or more as-yet unidentified genes.",GHR,erythromelalgia +Is erythromelalgia inherited ?,"Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,erythromelalgia +What are the treatments for erythromelalgia ?,These resources address the diagnosis or management of erythromelalgia: - Gene Review: Gene Review: SCN9A-Related Inherited Erythromelalgia - Genetic Testing Registry: Primary erythromelalgia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,erythromelalgia +What is (are) SOX2 anophthalmia syndrome ?,"SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. These eye problems can cause significant vision loss. While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other. Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Some people with this condition are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the esophagus and the trachea (tracheoesophageal fistula). Genital abnormalities have been described in affected individuals, especially males. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis).",GHR,SOX2 anophthalmia syndrome +How many people are affected by SOX2 anophthalmia syndrome ?,"SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome.",GHR,SOX2 anophthalmia syndrome +What are the genetic changes related to SOX2 anophthalmia syndrome ?,"Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. Mutations in the SOX2 gene prevent the production of functional SOX2 protein. The absence of this protein disrupts the activity of genes that are essential for the development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome.",GHR,SOX2 anophthalmia syndrome +Is SOX2 anophthalmia syndrome inherited ?,"SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the SOX2 gene and occur in people with no history of the disorder in their family. In a small number of cases, people with SOX2 anophthalmia syndrome have inherited the altered gene from an unaffected parent who has a SOX2 mutation only in their sperm or egg cells. This phenomenon is called germline mosaicism.",GHR,SOX2 anophthalmia syndrome +What are the treatments for SOX2 anophthalmia syndrome ?,These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,SOX2 anophthalmia syndrome +What is (are) atopic dermatitis ?,"Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood or does not begin until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red rashes that can come and go. The rashes can occur on any part of the body, although the pattern tends to be different at different ages. In affected infants, the rashes commonly occur on the face, scalp, hands, and feet. In children, the rashes are usually found in the bend of the elbows and knees and on the front of the neck. In adolescents and adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of the elbows and knees. Scratching the itchy skin can lead to oozing and crusting of the rashes and thickening and hardening (lichenification) of the skin. The itchiness can be so severe as to disturb sleep and impair a person's quality of life. The word ""atopic"" indicates an association with allergies. While atopic dermatitis is not always due to an allergic reaction, it is commonly associated with other allergic disorders: up to 60 percent of people with atopic dermatitis develop asthma or hay fever (allergic rhinitis) later in life, and up to 30 percent have food allergies. Atopic dermatitis is often the beginning of a series of allergic disorders, referred to as the atopic march. Development of these disorders typically follows a pattern, beginning with atopic dermatitis, followed by food allergies, then hay fever, and finally asthma. However, not all individuals with atopic dermatitis will progress through the atopic march, and not all individuals with one allergic disease will develop others. Individuals with atopic dermatitis have an increased risk of developing other conditions related to inflammation, such as inflammatory bowel disease and rheumatoid arthritis. They are also more likely than individuals of the general public to have a behavioral or psychiatric disorder, such as attention deficit hyperactivity disorder (ADHD) or depression.",GHR,atopic dermatitis +How many people are affected by atopic dermatitis ?,Atopic dermatitis is a common disorder that affects 10 to 20 percent of children and 5 to 10 percent of adults.,GHR,atopic dermatitis +What are the genetic changes related to atopic dermatitis ?,"The genetics of atopic dermatitis are not completely understood. Studies suggest that several genes can be involved in development of the condition. The strongest association is with the FLG gene, which is mutated in 20 to 30 percent of people with atopic dermatitis compared with 8 to 10 percent of the general population without atopic dermatitis. The FLG gene provides instructions for making a protein called profilaggrin, which is cut (cleaved) to produce multiple copies of the filaggrin protein. Filaggrin is involved in creating the structure of the outermost layer of skin, creating a strong barrier to keep in water and keep out foreign substances, including toxins, bacteria, and substances that can cause allergic reactions (allergens), such as pollen and dust. Further processing of the filaggrin protein produces other molecules that are part of the skin's ""natural moisturizing factor,"" which helps maintain hydration of the outermost layer of skin. Mutations in the FLG gene lead to production of an abnormally short profilaggrin molecule that cannot be cleaved to produce filaggrin proteins. The resulting shortage of filaggrin can impair the barrier function of the skin. In addition, a lack of natural moisturizing factor allows excess water loss through the skin, which can lead to dry skin. Research shows that impairment of the skin's barrier function contributes to development of allergic disorders. An allergic reaction occurs when the body mistakenly recognizes a harmless substance, such as pollen, as a danger and stimulates an immune response to it. Research suggests that without a properly functioning barrier, allergens are able to get into the body through the skin. For unknown reasons, in susceptible individuals the body reacts as if the allergen is harmful and produces immune proteins called IgE antibodies specific to the allergen. Upon later encounters with the allergen, IgE antibodies recognize it, which stimulates an immune response, causing the symptoms of allergies, such as itchy, watery eyes or breathing difficulty. Although atopic dermatitis is not initially caused by an allergic reaction, flare-ups of the rashes can be triggered by allergens. The impaired barrier function caused by FLG gene mutations also contributes to the increased risk of asthma and other allergic disorders in people with atopic dermatitis. Mutations in many other genes, most of which have not been identified, are likely associated with development of atopic dermatitis. Researchers suspect these genes are involved in the skin's barrier function or in the function of the immune system. However, not everyone with a mutation in FLG or another associated gene develops atopic dermatitis; exposure to certain environmental factors also contributes to the development of the disorder. Studies suggest that these exposures trigger epigenetic changes to the DNA. Epigenetic changes modify DNA without changing the DNA sequence. They can affect gene activity and regulate the production of proteins, which may influence the development of allergies in susceptible individuals.",GHR,atopic dermatitis +Is atopic dermatitis inherited ?,"Allergic disorders tend to run in families; having a parent with atopic dermatitis, asthma, or hay fever raises the chances a person will develop atopic dermatitis. When associated with FLG gene mutations, atopic dermatitis follows an autosomal dominant inheritance pattern, which means one copy of the altered FLG gene in each cell is sufficient to increase the risk of the disorder. Individuals with two altered copies of the gene are more likely to develop the disorder and can have more severe signs and symptoms than individuals with a single altered copy. When associated with other genetic factors, the inheritance pattern is unclear. People with changes in one of the genes associated with atopic dermatitis, including FLG, inherit an increased risk of this condition, not the condition itself. Not all people with this condition have a mutation in an associated gene, and not all people with a variation in an associated gene will develop the disorder.",GHR,atopic dermatitis +What are the treatments for atopic dermatitis ?,These resources address the diagnosis or management of atopic dermatitis: - American Academy of Dermatology: Atopic Dermatitis: Tips for Managing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,atopic dermatitis +What is (are) hereditary sensory and autonomic neuropathy type II ?,"Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. The signs and symptoms of HSAN2 typically begin in infancy or early childhood. The first sign of HSAN2 is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. People with HSAN2 often develop open sores (ulcers) on their hands and feet. Because affected individuals cannot feel the pain of these sores, they may not seek treatment right away. Without treatment, the ulcers can become infected and may lead to amputation of the affected area. Unintentional self-injury is common in people with HSAN2, typically by biting the tongue, lips, or fingers. These injuries may lead to spontaneous amputation of the affected areas. Affected individuals often have injuries and fractures in their hands, feet, limbs, and joints that go untreated because of the inability to feel pain. Repeated injury can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. The effects of HSAN2 on the autonomic nervous system are more variable. Some infants with HSAN2 have trouble sucking, which makes it difficult for them to eat. People with HSAN2 may experience episodes in which breathing slows or stops for short periods (apnea); digestive problems such as the backflow of stomach acids into the esophagus (gastroesophageal reflux); or slow eye blink or gag reflexes. Affected individuals may also have weak deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Some people with HSAN2 lose a type of taste bud on the tip of the tongue called lingual fungiform papillae and have a diminished sense of taste.",GHR,hereditary sensory and autonomic neuropathy type II +How many people are affected by hereditary sensory and autonomic neuropathy type II ?,"HSAN2 is a rare disease; however, the prevalence is unknown.",GHR,hereditary sensory and autonomic neuropathy type II +What are the genetic changes related to hereditary sensory and autonomic neuropathy type II ?,"There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B are the same. The WNK1 gene provides instructions for making multiple versions (isoforms) of the WNK1 protein. HSAN2A is caused by mutations that affect a particular isoform called the WNK1/HSN2 protein. This protein is found in the cells of the nervous system, including nerve cells that transmit the sensations of pain, temperature, and touch (sensory neurons). The mutations involved in HSAN2A result in an abnormally short WNK1/HSN2 protein. Although the function of this protein is unknown, it is likely that the abnormally short version cannot function properly. People with HSAN2A have a reduction in the number of sensory neurons; however, the role that WNK1/HSN2 mutations play in that loss is unclear. HSAN2B is caused by mutations in the FAM134B gene. These mutations may lead to an abnormally short and nonfunctional protein. The FAM134B protein is found in sensory and autonomic neurons. It is involved in the survival of neurons, particularly those that transmit pain signals, which are called nociceptive neurons. When the FAM134B protein is nonfunctional, neurons die by a process of self-destruction called apoptosis. The loss of neurons leads to the inability to feel pain, temperature, and touch sensations and to the impairment of the autonomic nervous system seen in people with HSAN2.",GHR,hereditary sensory and autonomic neuropathy type II +Is hereditary sensory and autonomic neuropathy type II inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary sensory and autonomic neuropathy type II +What are the treatments for hereditary sensory and autonomic neuropathy type II ?,These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary sensory and autonomic neuropathy type II +What is (are) microcephalic osteodysplastic primordial dwarfism type II ?,"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal. People with this condition typically have a high-pitched, nasal voice that results from a narrowing of the voicebox (subglottic stenosis). Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness. Over time, affected individuals may develop areas of abnormally light or dark skin coloring (pigmentation). Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge in one of the blood vessels at the center of the brain (intracranial aneurysm). These aneurysms are dangerous because they can burst, causing bleeding within the brain. Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals.",GHR,microcephalic osteodysplastic primordial dwarfism type II +How many people are affected by microcephalic osteodysplastic primordial dwarfism type II ?,"MOPDII appears to be a rare condition, although its prevalence is unknown.",GHR,microcephalic osteodysplastic primordial dwarfism type II +What are the genetic changes related to microcephalic osteodysplastic primordial dwarfism type II ?,"Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Pericentrin acts as an anchoring protein, securing other proteins to the centrosome. Through its interactions with these proteins, pericentrin plays a role in regulation of the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. PCNT gene mutations lead to the production of a nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division. Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.",GHR,microcephalic osteodysplastic primordial dwarfism type II +Is microcephalic osteodysplastic primordial dwarfism type II inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,microcephalic osteodysplastic primordial dwarfism type II +What are the treatments for microcephalic osteodysplastic primordial dwarfism type II ?,These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,microcephalic osteodysplastic primordial dwarfism type II +What is (are) histiocytosis-lymphadenopathy plus syndrome ?,"Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family. A feature common to the disorders in this spectrum is histiocytosis, which is the overgrowth of immune system cells called histiocytes. The cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The buildup often occurs in the lymph nodes, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on the lower body. These lesions are unusually dark (hyperpigmented) and have excessive hair growth (hypertrichosis). In addition, histiocytes accumulate at the site of the skin lesions. Other features of H syndrome include enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature. Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis. PHID is also characterized by the development of type 1 diabetes (also known as insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1 diabetes occurs when the body does not produce enough of the hormone insulin, leading to dysregulation of blood sugar levels. Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the eyelids due to accumulation of histiocytes. Affected individuals can also have joint deformities called contractures in their fingers or toes and hearing loss. The most common feature of familial Rosai-Dorfman disease is lymphadenopathy, usually affecting lymph nodes in the neck. Histiocytes can also accumulate in other parts of the body.",GHR,histiocytosis-lymphadenopathy plus syndrome +How many people are affected by histiocytosis-lymphadenopathy plus syndrome ?,"Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting approximately 100 individuals worldwide.",GHR,histiocytosis-lymphadenopathy plus syndrome +What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ?,"Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. With chemical modification, nucleosides become the building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP, which serve as energy sources in the cell. Molecules derived from nucleosides play an important role in many functions throughout the body. ENT3 is found in cellular structures called lysosomes, which break down large molecules into smaller ones that can be reused by cells. Researchers believe that this protein transports nucleosides generated by the breakdown of DNA and RNA out of lysosomes into the cell so they can be reused. The protein is also thought to transport nucleosides into structures called mitochondria, which are the energy-producing centers of cells. In mitochondria, nucleosides are likely used in the formation or repair of DNA found in these structures, known as mitochondrial DNA. The SLC29A3 gene mutations involved in histiocytosis-lymphadenopathy plus syndrome reduce or eliminate the activity of the ENT3 protein. Researchers speculate that the resulting impairment of nucleoside transport leads to a buildup of nucleosides in lysosomes, which may be damaging to cell function. A lack of ENT3 activity may also lead to a reduction in the amount of nucleosides in mitochondria. This nucleoside shortage could impair cellular energy production, which would impact many body systems. It is unclear how the mutations lead to histiocytosis and other features of the condition or why affected individuals can have different patterns of signs and symptoms.",GHR,histiocytosis-lymphadenopathy plus syndrome +Is histiocytosis-lymphadenopathy plus syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,histiocytosis-lymphadenopathy plus syndrome +What are the treatments for histiocytosis-lymphadenopathy plus syndrome ?,These resources address the diagnosis or management of histiocytosis-lymphadenopathy plus syndrome: - Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,histiocytosis-lymphadenopathy plus syndrome +What is (are) 21-hydroxylase deficiency ?,"21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form. Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation. Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss. In both the salt-wasting and simple virilizing forms of this disorder, females typically have external genitalia that do not look clearly male or female (ambiguous genitalia). Males usually have normal genitalia, but the testes may be small. Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia. As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes. Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder.",GHR,21-hydroxylase deficiency +How many people are affected by 21-hydroxylase deficiency ?,"The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.",GHR,21-hydroxylase deficiency +What are the genetic changes related to 21-hydroxylase deficiency ?,"Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. The retention of salt affects fluid levels in the body and blood pressure. 21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency. A lack of aldosterone production contributes to the salt loss in people with the salt-wasting form of this condition. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. Individuals with the salt-wasting type have CYP21A2 mutations that result in a completely nonfunctional enzyme. People with the simple virilizing type of this condition have CYP21A2 gene mutations that allow the production of low levels of functional enzyme. Individuals with the non-classic type of this disorder have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than either of the other types.",GHR,21-hydroxylase deficiency +Is 21-hydroxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,21-hydroxylase deficiency +What are the treatments for 21-hydroxylase deficiency ?,These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydroxylase deficiency - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,21-hydroxylase deficiency +What is (are) mycosis fungoides ?,"Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified. Mycosis fungoides progresses slowly through several stages, although not all people with the condition progress through all stages. Most affected individuals initially develop skin lesions called patches, which are flat, scaly, pink or red areas on the skin that can be itchy. Cancerous T cells, which cause the formation of patches, are found in these lesions. The skin cells themselves are not cancerous; the skin problems result when cancerous T cells move from the blood into the skin. Patches are most commonly found on the lower abdomen, upper thighs, buttocks, and breasts. They can disappear and reappear or remain stable over time. In most affected individuals, patches progress to plaques, the next stage of mycosis fungoides. Plaques are raised lesions that are usually reddish, purplish, or brownish in color and itchy. Plaques commonly occur in the same body regions as patches. While some plaques arise from patches, others develop on their own, and an affected person can have both patches and plaques simultaneously. As with patches, cancerous T cells are found in plaques. Plaques can remain stable or can develop into tumors. Not everyone with patches or plaques develops tumors. The tumors in mycosis fungoides, which are composed of cancerous T cells, are raised nodules that are thicker and deeper than plaques. They can arise from patches or plaques or occur on their own. Mycosis fungoides was so named because the tumors can resemble mushrooms, a type of fungus. Common locations for tumor development include the upper thighs and groin, breasts, armpits, and the crook of the elbow. Open sores may develop on the tumors, often leading to infection. In any stage of mycosis fungoides, the cancerous T cells can spread to other organs, including the lymph nodes, spleen, liver, and lungs, although this most commonly occurs in the tumor stage. In addition, affected individuals have an increased risk of developing another lymphoma or other type of cancer.",GHR,mycosis fungoides +How many people are affected by mycosis fungoides ?,"Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown reasons, mycosis fungoides affects males nearly twice as often as females. In the United States, there are an estimated 3.6 cases per million people each year. The condition has been found in regions around the world.",GHR,mycosis fungoides +What are the genetic changes related to mycosis fungoides ?,"The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. Abnormalities have been found on most chromosomes, but some regions are more commonly affected than others. People with this condition tend to have additions of DNA in regions of chromosomes 7 and 17 or loss of DNA from regions of chromosomes 9 and 10. It is unclear whether these genetic changes play a role in mycosis fungoides, although the tendency to acquire chromosome abnormalities (chromosomal instability) is a feature of many cancers. It can lead to genetic changes that allow cells to grow and divide uncontrollably. Other research suggests that certain variants of HLA class II genes are associated with mycosis fungoides. HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The specific variants are inherited through families. Certain variations of HLA genes may affect the risk of developing mycosis fungoides or may impact progression of the disorder. It is possible that other factors, such as environmental exposure or certain bacterial or viral infections, are involved in the development of mycosis fungoides. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear.",GHR,mycosis fungoides +Is mycosis fungoides inherited ?,"The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited.",GHR,mycosis fungoides +What are the treatments for mycosis fungoides ?,These resources address the diagnosis or management of mycosis fungoides: - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma - Genetic Testing Registry: Mycosis fungoides - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Options - National Cancer Institute: Mycosis Fungoides and the Szary Syndrome Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mycosis fungoides +What is (are) essential pentosuria ?,"Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.",GHR,essential pentosuria +How many people are affected by essential pentosuria ?,"Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected.",GHR,essential pentosuria +What are the genetic changes related to essential pentosuria ?,"Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy. DCXR gene mutations lead to the production of altered DCXR proteins that are quickly broken down. Without this protein, L-xylulose is not converted to xylitol, and the excess sugar is released in the urine. While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. This form of the condition, which disappears if the diet is changed, is referred to as alimentary pentosuria. Studies show that some drugs can also cause a form of temporary pentosuria called drug-induced pentosuria. These non-inherited forms of the condition also do not cause any health problems.",GHR,essential pentosuria +Is essential pentosuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,essential pentosuria +What are the treatments for essential pentosuria ?,These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,essential pentosuria +What is (are) Wolfram syndrome ?,"Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side (peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin. In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body's water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs with hypogonadism affects growth and sexual development. About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. Urinary tract problems include obstruction of the ducts between the kidneys and bladder (ureters), a large bladder that cannot empty normally (high-capacity atonal bladder), disrupted urination (bladder sphincter dyssynergia), and difficulty controlling the flow of urine (incontinence). About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior. There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. In addition to the usual features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. The tendency to bleed excessively combined with the ulcers typically leads to abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome type 2 do not develop diabetes insipidus. Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems.",GHR,Wolfram syndrome +How many people are affected by Wolfram syndrome ?,"The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2.",GHR,Wolfram syndrome +What are the genetic changes related to Wolfram syndrome ?,"Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing. The wolframin protein is found in many different tissues, such as the pancreas, brain, heart, bones, muscles, lung, liver, and kidneys. Within cells, wolframin is located in the membrane of a cell structure called the endoplasmic reticulum that is involved in protein production, processing, and transport. Wolframin's function is important in the pancreas, where the protein is thought to help process a protein called proinsulin into the mature hormone insulin. This hormone helps control blood sugar levels. WFS1 gene mutations lead to the production of a wolframin protein that has reduced or absent function. As a result, calcium levels within cells are not regulated and the endoplasmic reticulum does not work correctly. When the endoplasmic reticulum does not have enough functional wolframin, the cell triggers its own cell death (apoptosis). The death of cells in the pancreas, specifically cells that make insulin (beta cells), causes diabetes mellitus in people with Wolfram syndrome. The gradual loss of cells along the optic nerve eventually leads to blindness in affected individuals. The death of cells in other body systems likely causes the various signs and symptoms of Wolfram syndrome type 1. A certain mutation in the CISD2 gene was found to cause Wolfram syndrome type 2. The CISD2 gene provides instructions for making a protein that is located in the outer membrane of cell structures called mitochondria. Mitochondria are the energy-producing centers of cells. The exact function of the CISD2 protein is unknown, but it is thought to help keep mitochondria functioning normally. The CISD2 gene mutation that causes Wolfram syndrome type 2 results in an abnormally small, nonfunctional CISD2 protein. As a result, mitochondria are not properly maintained, and they eventually break down. Since the mitochondria provide energy to cells, the loss of mitochondria results in decreased energy for cells. Cells that do not have enough energy to function will eventually die. Cells with high energy demands such as nerve cells in the brain, eye, or gastrointestinal tract are most susceptible to cell death due to reduced energy. It is unknown why people with CISD2 gene mutations have ulcers and bleeding problems in addition to the usual Wolfram syndrome features. Some people with Wolfram syndrome do not have an identified mutation in either the WFS1 or CISD2 gene. The cause of the condition in these individuals is unknown.",GHR,Wolfram syndrome +Is Wolfram syndrome inherited ?,"When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some studies have shown that people who carry one copy of a WFS1 gene mutation are at increased risk of developing individual features of Wolfram syndrome or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, other studies have found no increased risk in these individuals. Wolfram syndrome caused by mutations in the CISD2 gene is also inherited in an autosomal recessive pattern.",GHR,Wolfram syndrome +What are the treatments for Wolfram syndrome ?,"These resources address the diagnosis or management of Wolfram syndrome: - Gene Review: Gene Review: WFS1-Related Disorders - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness - Genetic Testing Registry: Wolfram syndrome 2 - Johns Hopkins Medicine: Diabetes Insipidus - MedlinePlus Encyclopedia: Diabetes Insipidus--Central - Washington University, St. Louis: Wolfram Syndrome International Registry These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Wolfram syndrome +What is (are) familial hypobetalipoproteinemia ?,"Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive).",GHR,familial hypobetalipoproteinemia +How many people are affected by familial hypobetalipoproteinemia ?,"FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals.",GHR,familial hypobetalipoproteinemia +What are the genetic changes related to familial hypobetalipoproteinemia ?,"Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood. Most APOB gene mutations that lead to FHBL cause both versions of apolipoprotein B to be abnormally short. The severity of the condition largely depends on the length of these two versions of apolipoprotein B. Severely shortened versions cannot partner with lipoproteins and transport fats and cholesterol. Proteins that are only slightly shortened retain some function but partner less effectively with lipoproteins. Generally, the signs and symptoms of FHBL are worse if both versions of apolipoprotein B are severely shortened. Mild or no signs and symptoms result when the proteins are only slightly shortened. All of these protein changes lead to a reduction of functional apolipoprotein B. As a result, the transportation of dietary fats and cholesterol is decreased or absent. A decrease in fat transport reduces the body's ability to absorb fats and fat-soluble vitamins from the diet. Although APOB gene mutations are responsible for most cases of FHBL, mutations in a few other genes account for a small number of cases. Some people with FHBL do not have identified mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition.",GHR,familial hypobetalipoproteinemia +Is familial hypobetalipoproteinemia inherited ?,"This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.",GHR,familial hypobetalipoproteinemia +What are the treatments for familial hypobetalipoproteinemia ?,"These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial hypobetalipoproteinemia +What is (are) proopiomelanocortin deficiency ?,"Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes. Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal. Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.",GHR,proopiomelanocortin deficiency +How many people are affected by proopiomelanocortin deficiency ?,POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.,GHR,proopiomelanocortin deficiency +What are the genetic changes related to proopiomelanocortin deficiency ?,"POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity. POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms.",GHR,proopiomelanocortin deficiency +Is proopiomelanocortin deficiency inherited ?,"POMC deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity.",GHR,proopiomelanocortin deficiency +What are the treatments for proopiomelanocortin deficiency ?,These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanocortin Deficiency - Genetic Testing Registry: Proopiomelanocortin deficiency - MedlinePlus Encyclopedia: ACTH - National Heart Lung and Blood Institute: How Are Overweight and Obesity Treated? - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,proopiomelanocortin deficiency +What is (are) fragile X-associated tremor/ataxia syndrome ?,"Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS. The characteristic features of FXTAS are intention tremor, which is trembling or shaking of a limb when trying to perform a voluntary movement such as reaching for an object, and problems with coordination and balance (ataxia). Typically intention tremors will develop first, followed a few years later by ataxia, although not everyone with FXTAS has both features. Many affected individuals develop other movement problems, such as a pattern of movement abnormalities known as parkinsonism, which includes tremors when not moving (resting tremor), rigidity, and unusually slow movement (bradykinesia). In addition, affected individuals may have reduced sensation, numbness or tingling, pain, or muscle weakness in the lower limbs. Some people with FXTAS experience problems with the autonomic nervous system, which controls involuntary body functions, leading to the inability to control the bladder or bowel. People with FXTAS commonly have cognitive disabilities. They may develop short-term memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. Many people with FXTAS experience anxiety, depression, moodiness, or irritability. Some women develop immune system disorders, such as hypothyroidism or fibromyalgia, before the signs and symptoms of FXTAS appear.",GHR,fragile X-associated tremor/ataxia syndrome +How many people are affected by fragile X-associated tremor/ataxia syndrome ?,"Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop signs and symptoms of FXTAS.",GHR,fragile X-associated tremor/ataxia syndrome +What are the genetic changes related to fragile X-associated tremor/ataxia syndrome ?,"Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses. Individuals with FXTAS have a mutation in which a DNA segment, known as a CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with FXTAS, however, the CGG segment is repeated 55 to 200 times. This mutation is known as an FMR1 gene premutation. An expansion of more than 200 repeats, a full mutation, causes a more serious condition called fragile X syndrome, which is characterized by intellectual disability, learning problems, and certain physical features. For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. The FMR1mRNA is the genetic blueprint for the production of FMRP. Researchers believe that the high levels of mRNA cause the signs and symptoms of FXTAS. The mRNA has been found in clumps of proteins and mRNA (intranuclear inclusions) in brain and nerve cells in people with FXTAS. It is thought that attaching to FMR1 mRNA and forming clumps keeps the other proteins from performing their functions, although the effect of the intranuclear inclusions is unclear. In addition, the repeat expansion makes producing FMRP from the mRNA blueprint more difficult, and as a result, people with the FMR1 gene premutation can have less FMRP than normal. A reduction in the protein is not thought to be involved in FXTAS. However, it may cause mild versions of the features seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings.",GHR,fragile X-associated tremor/ataxia syndrome +Is fragile X-associated tremor/ataxia syndrome inherited ?,"An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXTAS. In females (who have two X chromosomes), a mutation in one of the two copies of the FMR1 gene in each cell can lead to the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell can result in the disorder. However, not all people who inherit an FMR1 premutation will develop FXTAS. In X-linked dominant disorders, males typically experience more severe symptoms than females. Fewer females than males develop FXTAS because the X chromosome that contains the premutation may be turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may help determine the severity of FXTAS in females or whether they develop signs and symptoms of the condition.",GHR,fragile X-associated tremor/ataxia syndrome +What are the treatments for fragile X-associated tremor/ataxia syndrome ?,These resources address the diagnosis or management of FXTAS: - Fragile X Research Foundation of Canada: FXTAS - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Fragile X tremor/ataxia syndrome - Merck Manual Consumer Version These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fragile X-associated tremor/ataxia syndrome +What is (are) X-linked chondrodysplasia punctata 1 ?,"X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood. Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.",GHR,X-linked chondrodysplasia punctata 1 +How many people are affected by X-linked chondrodysplasia punctata 1 ?,The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature.,GHR,X-linked chondrodysplasia punctata 1 +What are the genetic changes related to X-linked chondrodysplasia punctata 1 ?,"X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density. Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSE gene. These mutations reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E. Researchers are working to determine how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1. Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene. Other, as-yet-unidentified genetic and environmental factors may also be involved in causing this disorder.",GHR,X-linked chondrodysplasia punctata 1 +Is X-linked chondrodysplasia punctata 1 inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the ARSE gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked chondrodysplasia punctata 1 +What are the treatments for X-linked chondrodysplasia punctata 1 ?,"These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked chondrodysplasia punctata 1 +What is (are) hereditary multiple osteochondromas ?,"Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade. Once people with hereditary multiple osteochondromas reach adult height and their bones stop growing, the development of new osteochondromas also usually stops. Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).",GHR,hereditary multiple osteochondromas +How many people are affected by hereditary multiple osteochondromas ?,"The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada.",GHR,hereditary multiple osteochondromas +What are the genetic changes related to hereditary multiple osteochondromas ?,"Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin-1 and exostosin-2 complex modifies a protein called heparan sulfate so it can be used by the cell. When there is a mutation in exostosin-1 or exostosin-2, heparan sulfate cannot be processed correctly and is nonfunctional. Although heparan sulfate is involved in many bodily processes, it is unclear how the lack of this protein contributes to the development of osteochondromas. If the condition is caused by a mutation in the EXT1 gene it is called hereditary multiple osteochondromas type 1. A mutation in the EXT2 gene causes hereditary multiple osteochondromas type 2. While both type 1 and type 2 involve multiple osteochondromas, mutations in the EXT1 gene likely account for 55 to 75 percent of all cases of hereditary multiple osteochondromas, and the severity of symptoms associated with osteochondromas seems to be greater in type 1. Researchers estimate that about 15 percent of people with hereditary multiple osteochondromas have no mutation in either the EXT1 or the EXT2 gene. It is not known why multiple osteochondromas form in these individuals.",GHR,hereditary multiple osteochondromas +Is hereditary multiple osteochondromas inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary multiple osteochondromas +What are the treatments for hereditary multiple osteochondromas ?,These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exostoses type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary multiple osteochondromas +What is (are) infantile neuronal ceroid lipofuscinosis ?,"Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood. Infantile NCL is one of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.",GHR,infantile neuronal ceroid lipofuscinosis +How many people are affected by infantile neuronal ceroid lipofuscinosis ?,"The incidence of infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.",GHR,infantile neuronal ceroid lipofuscinosis +What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ?,"Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from proteins, which probably helps break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions. PPT1 gene mutations that cause infantile NCL decrease the production or function of palmitoyl-protein thioesterase 1. A shortage of functional enzyme impairs the removal of fatty acids from proteins. In the lysosomes, these fats and proteins accumulate as fatty substances called lipopigments. These accumulations occur in cells throughout the body, but nerve cells in the brain seem to be particularly vulnerable to the damage caused by buildup of lipopigments and the loss of enzyme function. The progressive death of cells, especially in the brain, leads to the signs and symptoms of infantile NCL.",GHR,infantile neuronal ceroid lipofuscinosis +Is infantile neuronal ceroid lipofuscinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,infantile neuronal ceroid lipofuscinosis +What are the treatments for infantile neuronal ceroid lipofuscinosis ?,These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,infantile neuronal ceroid lipofuscinosis +What is (are) head and neck squamous cell carcinoma ?,"Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat. HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes. HNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.",GHR,head and neck squamous cell carcinoma +How many people are affected by head and neck squamous cell carcinoma ?,"HNSCC is the seventh most common cancer worldwide. Approximately 600,000 new cases are diagnosed each year, including about 50,000 in the United States. HNSCC occurs most often in men in their 50s or 60s, although the incidence among younger individuals is increasing.",GHR,head and neck squamous cell carcinoma +What are the genetic changes related to head and neck squamous cell carcinoma ?,"HNSCC is caused by a variety of factors that can alter the DNA in cells. The strongest risk factors for developing this form of cancer are tobacco use (including smoking or using chewing tobacco) and heavy alcohol consumption. In addition, studies have shown that infection with certain strains of human papillomavirus (HPV) is linked to the development of HNSCC. HPV infection accounts for the increasing incidence of HNSCC in younger people. Researchers have identified mutations in many genes in people with HNSCC; however, it is not yet clear what role most of these mutations play in the development or progression of cancer. The proteins produced from several of the genes associated with HNSCC, including TP53, NOTCH1, and CDKN2A, function as tumor suppressors, which means they normally keep cells from growing and dividing too rapidly or in an uncontrolled way. When tumor suppressors are impaired, cells can grow and divide without control, leading to tumor formation. It is likely that a series of changes in multiple genes is involved in the development and progression of HNSCC.",GHR,head and neck squamous cell carcinoma +Is head and neck squamous cell carcinoma inherited ?,"HNSCC is generally not inherited; it typically arises from mutations in the body's cells that occur during an individual's lifetime. This type of alteration is called a somatic mutation. Rarely, HNSCC is found in several members of a family. These families have inherited disorders that increase the risk of multiple types of cancer.",GHR,head and neck squamous cell carcinoma +What are the treatments for head and neck squamous cell carcinoma ?,These resources address the diagnosis or management of head and neck squamous cell carcinoma: - Cancer.Net: Head and Neck Cancer: Treatment Options - National Cancer Institute: Head and Neck Cancers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,head and neck squamous cell carcinoma +What is (are) deoxyguanosine kinase deficiency ?,"Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain. Newborns with the hepatocerebral form of deoxyguanosine kinase deficiency may have a buildup of lactic acid in the body (lactic acidosis) within the first few days after birth. They may also have weakness, behavior changes such as poor feeding and decreased activity, and vomiting. Affected newborns sometimes have low blood sugar (hypoglycemia) as a result of liver dysfunction. During the first few weeks of life they begin showing other signs of liver disease which may result in liver failure. They also develop progressive neurological problems including very weak muscle tone (severe hypotonia), abnormal eye movements (nystagmus) and the loss of skills they had previously acquired (developmental regression). Children with this form of the disorder usually do not survive past the age of 2 years. Some individuals with deoxyguanosine kinase deficiency have a milder form of the disorder without severe neurological problems. Liver disease is the primary symptom of this form of the disorder, generally becoming evident during infancy or childhood. Occasionally it first appears after an illness such as a viral infection. Affected individuals may also develop kidney problems. Mild hypotonia is the only neurological effect associated with this form of the disorder.",GHR,deoxyguanosine kinase deficiency +How many people are affected by deoxyguanosine kinase deficiency ?,The prevalence of deoxyguanosine kinase deficiency is unknown. Approximately 100 affected individuals have been identified.,GHR,deoxyguanosine kinase deficiency +What are the genetic changes related to deoxyguanosine kinase deficiency ?,"The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the building blocks of mitochondrial DNA. Mutations in the DGUOK gene reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the neurological and liver dysfunction associated with deoxyguanosine kinase deficiency.",GHR,deoxyguanosine kinase deficiency +Is deoxyguanosine kinase deficiency inherited ?,"Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,deoxyguanosine kinase deficiency +What are the treatments for deoxyguanosine kinase deficiency ?,"These resources address the diagnosis or management of deoxyguanosine kinase deficiency: - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3, hepatocerebral - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,deoxyguanosine kinase deficiency +"What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders in order to prevent infection and illness. Because males with XMEN do not have enough functional T cells, they have frequent infections, such as ear infections, sinus infections, and pneumonia. In particular, affected individuals are vulnerable to the Epstein-Barr virus (EBV). EBV is a very common virus that infects more than 90 percent of the general population and in most cases goes unnoticed. Normally, after initial infection, EBV remains in the body for the rest of a person's life. However, the virus is generally inactive (latent) because it is controlled by T cells. In males with XMEN, however, the T cells cannot control the virus, and EBV infection can lead to cancers of immune system cells (lymphomas). The word ""neoplasia"" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue. The EBV infection itself usually does not cause any other symptoms in males with XMEN, and affected individuals may not come to medical attention until they develop lymphoma.",GHR,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +"How many people are affected by X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?",The prevalence of XMEN is unknown. Only a few affected individuals have been described in the medical literature.,GHR,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +"What are the genetic changes related to X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?","XMEN is caused by mutations in the MAGT1 gene. This gene provides instructions for making a protein called a magnesium transporter, which moves charged atoms (ions) of magnesium (Mg2+) into certain T cells. Specifically, the magnesium transporter produced from the MAGT1 gene is active in CD8+ T cells, which are especially important in controlling viral infections such as the Epstein-Barr virus (EBV). These cells normally take in magnesium when they detect a foreign invader, and the magnesium is involved in activating the T cell's response. Researchers suggest that magnesium transport may also be involved in the production of another type of T cell called helper T cells (CD4+ T cells) in a gland called the thymus. CD4+ T cells direct and assist the functions of the immune system by influencing the activities of other immune system cells. Mutations in the MAGT1 gene impair the magnesium transporter's function, reducing the amount of magnesium that gets into T cells. This magnesium deficiency prevents the efficient activation of the T cells to target EBV and other infections. Uncontrolled EBV infection increases the likelihood of developing lymphoma. Impaired production of CD4+ T cells resulting from abnormal magnesium transport likely accounts for the deficiency of this type of T cell in people with XMEN, contributing to the decreased ability to prevent infection and illness.",GHR,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +"Is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia inherited ?","This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +"What are the treatments for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?",These resources address the diagnosis or management of XMEN: - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - MedlinePlus Encyclopedia: T Cell Count These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +What is (are) xeroderma pigmentosum ?,"Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum. People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer. The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision. About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time. Researchers have identified at least eight inherited forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase skin cancer risk, although some are more likely than others to be associated with neurological abnormalities.",GHR,xeroderma pigmentosum +How many people are affected by xeroderma pigmentosum ?,"Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East.",GHR,xeroderma pigmentosum +What are the genetic changes related to xeroderma pigmentosum ?,"Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The proteins produced from these genes play a variety of roles in this process. They recognize DNA damage, unwind regions of DNA where the damage has occurred, snip out (excise) the abnormal sections, and replace the damaged areas with the correct DNA. Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps. The POLH gene also plays a role in protecting cells from UV-induced DNA damage, although it is not involved in NER; mutations in this gene cause the variant type of xeroderma pigmentosum. The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage. When UV rays damage genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors. Neurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not. Inherited mutations in at least eight genes have been found to cause xeroderma pigmentosum. More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases.",GHR,xeroderma pigmentosum +Is xeroderma pigmentosum inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,xeroderma pigmentosum +What are the treatments for xeroderma pigmentosum ?,"These resources address the diagnosis or management of xeroderma pigmentosum: - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed? - American Cancer Society: How is Melanoma Diagnosed? - Gene Review: Gene Review: Xeroderma Pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b - Genetic Testing Registry: Xeroderma pigmentosum, group C - Genetic Testing Registry: Xeroderma pigmentosum, group D - Genetic Testing Registry: Xeroderma pigmentosum, group E - Genetic Testing Registry: Xeroderma pigmentosum, group F - Genetic Testing Registry: Xeroderma pigmentosum, group G - Genetic Testing Registry: Xeroderma pigmentosum, type 1 - Genetic Testing Registry: Xeroderma pigmentosum, variant type - MedlinePlus Encyclopedia: Xeroderma Pigmentosum - National Cancer Institute: Melanoma Treatment - National Cancer Institute: Skin Cancer Treatment - Xeroderma Pigmentosum Society, Inc.: Beta Carotene - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,xeroderma pigmentosum +What is (are) Baller-Gerold syndrome ?,"Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma. The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.",GHR,Baller-Gerold syndrome +How many people are affected by Baller-Gerold syndrome ?,"The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature.",GHR,Baller-Gerold syndrome +What are the genetic changes related to Baller-Gerold syndrome ?,"Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. Mutations in the RECQL4 gene prevent cells from producing any RECQL4 protein or change the way the protein is pieced together, which disrupts its usual function. A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the signs and symptoms of Baller-Gerold syndrome. This condition has been associated with prenatal (before birth) exposure to a drug called sodium valproate. This medication is used to treat epilepsy and certain psychiatric disorders. Some infants whose mothers took sodium valproate during pregnancy were born with the characteristic features of Baller-Gerold syndrome, such as an unusual skull shape, distinctive facial features, and abnormalities of the arms and hands. However, it is unclear if exposure to the medication caused the condition.",GHR,Baller-Gerold syndrome +Is Baller-Gerold syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Baller-Gerold syndrome +What are the treatments for Baller-Gerold syndrome ?,These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Baller-Gerold syndrome +What is (are) Koolen-de Vries syndrome ?,"Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy). Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.",GHR,Koolen-de Vries syndrome +How many people are affected by Koolen-de Vries syndrome ?,"The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed.",GHR,Koolen-de Vries syndrome +What are the genetic changes related to Koolen-de Vries syndrome ?,"Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. A small number of individuals with Koolen-de Vries syndrome do not have a chromosome 17 microdeletion but instead have a mutation within the KANSL1 gene that causes one copy of the gene to be nonfunctional. The microdeletion that causes Koolen-de Vries syndrome occurs on the long (q) arm of chromosome 17 at a location designated q21.31. While the exact size of the deletion varies among affected individuals, most are missing a sequence of about 500,000 DNA building blocks (base pairs) containing several genes. However, because individuals with KANSL1 gene mutations have the same signs and symptoms as those with the microdeletion, researchers have concluded that the loss of this gene accounts for the features of this disorder. The KANSL1 gene provides instructions for making a protein that helps regulate gene activity (expression) by modifying chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The protein produced from the KANSL1 gene is found in most organs and tissues of the body before birth and throughout life. By its involvement in controlling the activity of other genes, this protein plays an important role in the development and function of many parts of the body. Loss of one copy of this gene impairs normal development and function, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear.",GHR,Koolen-de Vries syndrome +Is Koolen-de Vries syndrome inherited ?,"Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. While it is possible for them to pass the condition on to their children, no individuals with Koolen-de Vries syndrome have been known to reproduce. Most people with Koolen-de Vries syndrome caused by a deletion have had at least one parent with a common variant of the 17q21.31 region of chromosome 17 called the H2 lineage. This variant is found in 20 percent of people of European and Middle Eastern descent, although it is rare in other populations. In the H2 lineage, a 900 kb segment of DNA, which includes the region deleted in most cases of Koolen-de Vries syndrome, has undergone an inversion. An inversion involves two breaks in a chromosome; the resulting piece of DNA is reversed and reinserted into the chromosome. People with the H2 lineage have no health problems related to the inversion. However, genetic material can be lost or duplicated when the inversion is passed to the next generation. Other, unknown factors are thought to play a role in this process. So while the inversion is very common, only an extremely small percentage of parents with the inversion have a child affected by Koolen-de Vries syndrome.",GHR,Koolen-de Vries syndrome +What are the treatments for Koolen-de Vries syndrome ?,These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Koolen-de Vries syndrome +What is (are) sudden infant death with dysgenesis of the testes syndrome ?,"Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal. SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx). The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).",GHR,sudden infant death with dysgenesis of the testes syndrome +How many people are affected by sudden infant death with dysgenesis of the testes syndrome ?,SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.,GHR,sudden infant death with dysgenesis of the testes syndrome +What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ?,"A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain. The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem. Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.",GHR,sudden infant death with dysgenesis of the testes syndrome +Is sudden infant death with dysgenesis of the testes syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sudden infant death with dysgenesis of the testes syndrome +What are the treatments for sudden infant death with dysgenesis of the testes syndrome ?,"These resources address the diagnosis or management of SIDDT: - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sudden infant death with dysgenesis of the testes syndrome +What is (are) mitochondrial membrane protein-associated neurodegeneration ?,"Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people with MPAN have a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, involuntary trembling (tremors), and an inability to hold the body upright and balanced (postural instability). Other neurological problems that occur in individuals with MPAN include degeneration of the nerve cells that carry visual information from the eyes to the brain (optic atrophy), which can impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an inability to control the bowels or the flow of urine (incontinence). Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, mood swings, hyperactivity, and depression. MPAN is characterized by an abnormal buildup of iron in certain regions of the brain. Because of these deposits, MPAN is considered part of a group of conditions known as neurodegeneration with brain iron accumulation (NBIA).",GHR,mitochondrial membrane protein-associated neurodegeneration +How many people are affected by mitochondrial membrane protein-associated neurodegeneration ?,MPAN is a rare condition that is estimated to affect less than 1 in 1 million people.,GHR,mitochondrial membrane protein-associated neurodegeneration +What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ?,"Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis. The gene mutations that cause this condition lead to an altered C19orf12 protein that likely has little or no function. It is unclear how these genetic changes lead to the neurological problems associated with MPAN. Researchers are working to determine whether there is a link between problems with lipid homeostasis and brain iron accumulation and how these abnormalities might contribute to the features of this disorder.",GHR,mitochondrial membrane protein-associated neurodegeneration +Is mitochondrial membrane protein-associated neurodegeneration inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mitochondrial membrane protein-associated neurodegeneration +What are the treatments for mitochondrial membrane protein-associated neurodegeneration ?,These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration: - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview - Genetic Testing Registry: Neurodegeneration with brain iron accumulation 4 - Spastic Paraplegia Foundation: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mitochondrial membrane protein-associated neurodegeneration +What is (are) adolescent idiopathic scoliosis ?,"Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated ""S"" or ""C"" shape; the bones of the spine are also slightly twisted or rotated. Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a time when children are growing rapidly. In many cases the abnormal spinal curve is stable, although in some children the curve is progressive (meaning it becomes more severe over time). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. However, mild spinal curvature is equally common in girls and boys. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature. Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body.",GHR,adolescent idiopathic scoliosis +How many people are affected by adolescent idiopathic scoliosis ?,Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S.,GHR,adolescent idiopathic scoliosis +What are the genetic changes related to adolescent idiopathic scoliosis ?,"The term ""idiopathic"" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with adolescent idiopathic scoliosis have been identified.",GHR,adolescent idiopathic scoliosis +Is adolescent idiopathic scoliosis inherited ?,"Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative (such as a parent or sibling) with adolescent idiopathic scoliosis increases a child's risk of developing the condition.",GHR,adolescent idiopathic scoliosis +What are the treatments for adolescent idiopathic scoliosis ?,"These resources address the diagnosis or management of adolescent idiopathic scoliosis: - Genetic Testing Registry: Scoliosis, idiopathic 1 - Genetic Testing Registry: Scoliosis, idiopathic 2 - Genetic Testing Registry: Scoliosis, idiopathic 3 - National Scoliosis Foundation: FAQs - Scoliosis Research Society: Find A Specialist - Scoliosis Research Society: For Adolescents These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,adolescent idiopathic scoliosis +What is (are) neuroferritinopathy ?,"Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses.",GHR,neuroferritinopathy +How many people are affected by neuroferritinopathy ?,The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported.,GHR,neuroferritinopathy +What are the genetic changes related to neuroferritinopathy ?,"Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows ferritin to regulate the amount of iron in the cells and tissues. Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin's ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other neurological changes seen in neuroferritinopathy.",GHR,neuroferritinopathy +Is neuroferritinopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,neuroferritinopathy +What are the treatments for neuroferritinopathy ?,These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,neuroferritinopathy +What is (are) hereditary hemochromatosis ?,"Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder. Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause. Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, heart disease becomes evident by age 30. The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30.",GHR,hereditary hemochromatosis +How many people are affected by hereditary hemochromatosis ?,"Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide.",GHR,hereditary hemochromatosis +What are the genetic changes related to hereditary hemochromatosis ?,"Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis. The proteins produced from these genes play important roles in regulating the absorption, transport, and storage of iron. Mutations in any of these genes impair the control of iron absorption during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions.",GHR,hereditary hemochromatosis +Is hereditary hemochromatosis inherited ?,"Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,hereditary hemochromatosis +What are the treatments for hereditary hemochromatosis ?,These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis - GeneFacts: Hereditary Hemochromatosis: Diagnosis - GeneFacts: Hereditary Hemochromatosis: Management - Genetic Testing Registry: Hemochromatosis type 1 - Genetic Testing Registry: Hemochromatosis type 2A - Genetic Testing Registry: Hemochromatosis type 3 - Genetic Testing Registry: Hemochromatosis type 4 - MedlinePlus Encyclopedia: Hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary hemochromatosis +What is (are) metatropic dysplasia ?,"Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term ""metatropic"" is derived from the Greek word ""metatropos,"" which means ""changing patterns."" This name reflects the fact that the skeletal abnormalities associated with the condition change over time. Affected infants are born with a narrow chest and unusually short arms and legs with dumbbell-shaped long bones. Beginning in early childhood, people with this condition develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). The curvature worsens with time and tends to be resistant to treatment. Because of the severe kyphoscoliosis, affected individuals may ultimately have a very short torso in relation to the length of their arms and legs. Some people with metatropic dysplasia are born with an elongated tailbone known as a coccygeal tail; it is made of a tough but flexible tissue called cartilage. The coccygeal tail usually shrinks over time. Other skeletal problems associated with metatropic dysplasia include flattened bones of the spine (platyspondyly); excessive movement of spinal bones in the neck that can damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint deformities called contractures that restrict the movement of joints in the shoulders, elbows, hips, and knees. Beginning early in life, affected individuals can also develop a degenerative form of arthritis that causes joint pain and further restricts movement. The signs and symptoms of metatropic dysplasia can vary from relatively mild to life-threatening. In the most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several distinct forms of metatropic dysplasia based on the severity of the condition's features. The forms included a mild type, a classic type, and a lethal type. However, all of these forms are now considered to be part of a single condition with a spectrum of overlapping signs and symptoms.",GHR,metatropic dysplasia +How many people are affected by metatropic dysplasia ?,Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.,GHR,metatropic dysplasia +What are the genetic changes related to metatropic dysplasia ?,"Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition.",GHR,metatropic dysplasia +Is metatropic dysplasia inherited ?,"Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent. In the past, it was thought that the lethal type of metatropic dysplasia had an autosomal recessive pattern of inheritance, in which both copies of the gene in each cell have mutations. However, more recent research has confirmed that all metatropic dysplasia has an autosomal dominant pattern of inheritance.",GHR,metatropic dysplasia +What are the treatments for metatropic dysplasia ?,These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,metatropic dysplasia +What is (are) Weaver syndrome ?,"Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear. Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.",GHR,Weaver syndrome +How many people are affected by Weaver syndrome ?,The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature.,GHR,Weaver syndrome +What are the genetic changes related to Weaver syndrome ?,"Weaver syndrome is usually caused by mutations in the EZH2 gene. The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off the activity of certain genes, which is an essential process in normal development. It is unclear how mutations in the EZH2 gene result in the abnormalities characteristic of Weaver syndrome.",GHR,Weaver syndrome +Is Weaver syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a small number of cases, an affected person inherits the mutation from one affected parent.",GHR,Weaver syndrome +What are the treatments for Weaver syndrome ?,These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Weaver syndrome +What is (are) hereditary neuralgic amyotrophy ?,"Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms. People with hereditary neuralgic amyotrophy usually begin experiencing attacks in their twenties, but episodes have occurred as early as the age of 1 year in some individuals. The attacks may be spontaneous or triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunizations, or emotional disturbance. While the frequency of the episodes tends to decrease with age, affected individuals are often left with residual problems, such as chronic pain and impaired movement, that accumulate over time. Typically an attack begins with severe pain on one or both sides of the body; right-sided involvement is most common. The pain may be difficult to control with medication and usually lasts about a month. Within a period of time ranging from a few hours to a couple of weeks, the muscles in the affected area begin to weaken and waste away (atrophy), and movement becomes difficult. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) ""stick out"" from the back, a common sign known as scapular winging. Additional features of hereditary neuralgic amyotrophy may include decreased sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or tingling (paresthesias). Areas other than the shoulder and arm may also be involved. In a few affected families, individuals with hereditary neuralgic amyotrophy also have unusual physical characteristics including short stature, excess skin folds on the neck and arms, an opening in the roof of the mouth (cleft palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and partially webbed or fused fingers or toes (partial syndactyly). They may also have distinctive facial features including eyes set close together (ocular hypotelorism), a narrow opening of the eyelids (short palpebral fissures) with a skin fold covering the inner corner of the eye (epicanthal fold), a long nasal bridge, a narrow mouth, and differences between one side of the face and the other (facial asymmetry).",GHR,hereditary neuralgic amyotrophy +How many people are affected by hereditary neuralgic amyotrophy ?,"Hereditary neuralgic amyotrophy is a rare disorder, but its specific prevalence is unknown. Approximately 200 families affected by the disorder have been identified worldwide.",GHR,hereditary neuralgic amyotrophy +What are the genetic changes related to hereditary neuralgic amyotrophy ?,"Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells. The SEPT9 gene seems to be turned on (active) in cells throughout the body. Approximately 15 slightly different versions (isoforms) of the septin-9 protein may be produced from this gene. Some types of cells make certain isoforms, while other cell types produce other isoforms. However, the specific distribution of these isoforms in the body's tissues is not well understood. Septin-9 isoforms interact with other septin proteins to perform some of their functions. Mutations in the SEPT9 gene may change the sequence of protein building blocks (amino acids) in certain septin-9 isoforms in ways that interfere with their function. These mutations may also change the distribution of septin-9 isoforms and their interactions with other septin proteins in some of the body's tissues. This change in the functioning of septin proteins seems to particularly affect the brachial plexus, but the reason for this is unknown. Because many of the triggers for hereditary neuralgic amyotrophy also affect the immune system, researchers believe that an autoimmune reaction may be involved in this disorder. However, the relation between SEPT9 mutations and immune function is unclear. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. An autoimmune attack on the nerves in the brachial plexus likely results in the signs and symptoms of hereditary neuralgic amyotrophy. At least 15 percent of families affected by hereditary neuralgic amyotrophy do not have SEPT9 gene mutations. In these cases, the disorder is believed to be caused by mutations in a gene that has not been identified.",GHR,hereditary neuralgic amyotrophy +Is hereditary neuralgic amyotrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary neuralgic amyotrophy +What are the treatments for hereditary neuralgic amyotrophy ?,These resources address the diagnosis or management of hereditary neuralgic amyotrophy: - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy - Genetic Testing Registry: Hereditary neuralgic amyotrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary neuralgic amyotrophy +What is (are) psoriatic arthritis ?,"Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered by flaky white scales. People with psoriasis may also have changes in their fingernails and toenails, such as nails that become pitted or ridged, crumble, or separate from the nail beds. Signs and symptoms of psoriatic arthritis include stiff, painful joints with redness, heat, and swelling in the surrounding tissues. When the hands and feet are affected, swelling and redness may result in a ""sausage-like"" appearance of the fingers or toes (dactylitis). In most people with psoriatic arthritis, psoriasis appears before joint problems develop. Psoriasis typically begins during adolescence or young adulthood, and psoriatic arthritis usually occurs between the ages of 30 and 50. However, both conditions may occur at any age. In a small number of cases, psoriatic arthritis develops in the absence of noticeable skin changes. Psoriatic arthritis may be difficult to distinguish from other forms of arthritis, particularly when skin changes are minimal or absent. Nail changes and dactylitis are two features that are characteristic of psoriatic arthritis, although they do not occur in all cases. Psoriatic arthritis is categorized into five types: distal interphalangeal predominant, asymmetric oligoarticular, symmetric polyarthritis, spondylitis, and arthritis mutilans. The distal interphalangeal predominant type affects mainly the ends of the fingers and toes. The distal interphalangeal joints are those closest to the nails. Nail changes are especially frequent with this form of psoriatic arthritis. The asymmetric oligoarticular and symmetric polyarthritis types are the most common forms of psoriatic arthritis. The asymmetric oligoarticular type of psoriatic arthritis involves different joints on each side of the body, while the symmetric polyarthritis form affects the same joints on each side. Any joint in the body may be affected in these forms of the disorder, and symptoms range from mild to severe. Some individuals with psoriatic arthritis have joint involvement that primarily involves spondylitis, which is inflammation in the joints between the vertebrae in the spine. Symptoms of this form of the disorder involve pain and stiffness in the back or neck, and movement is often impaired. Joints in the arms, legs, hands, and feet may also be involved. The most severe and least common type of psoriatic arthritis is called arthritis mutilans. Fewer than 5 percent of individuals with psoriatic arthritis have this form of the disorder. Arthritis mutilans involves severe inflammation that damages the joints in the hands and feet, resulting in deformation and movement problems. Bone loss (osteolysis) at the joints may lead to shortening (telescoping) of the fingers and toes. Neck and back pain may also occur.",GHR,psoriatic arthritis +How many people are affected by psoriatic arthritis ?,"Psoriatic arthritis affects an estimated 24 in 10,000 people. Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a common disorder, affecting approximately 2 to 3 percent of the population worldwide.",GHR,psoriatic arthritis +What are the genetic changes related to psoriatic arthritis ?,"The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body ordinarily stops the inflammatory response to prevent damage to its own cells and tissues. Mechanical stress on the joints, such as occurs in movement, may result in an excessive inflammatory response in people with psoriatic arthritis. The reasons for this excessive inflammatory response are unclear. Researchers have identified changes in several genes that may influence the risk of developing psoriatic arthritis. The most well-studied of these genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations of several HLA genes seem to affect the risk of developing psoriatic arthritis, as well as the type, severity, and progression of the condition. Variations in several other genes have also been associated with psoriatic arthritis. Many of these genes are thought to play roles in immune system function. However, variations in these genes probably make only a small contribution to the overall risk of developing psoriatic arthritis. Other genetic and environmental factors are also likely to influence a person's chances of developing this disorder.",GHR,psoriatic arthritis +Is psoriatic arthritis inherited ?,This condition has an unknown inheritance pattern. Approximately 40 percent of affected individuals have at least one close family member with psoriasis or psoriatic arthritis.,GHR,psoriatic arthritis +What are the treatments for psoriatic arthritis ?,"These resources address the diagnosis or management of psoriatic arthritis: - American Society for Surgery of the Hand - Genetic Testing Registry: Psoriatic arthritis, susceptibility to - The Johns Hopkins Arthritis Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,psoriatic arthritis +What is (are) beta-ureidopropionase deficiency ?,"Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.",GHR,beta-ureidopropionase deficiency +How many people are affected by beta-ureidopropionase deficiency ?,"The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed.",GHR,beta-ureidopropionase deficiency +What are the genetic changes related to beta-ureidopropionase deficiency ?,"Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The beta-ureidopropionase enzyme is involved in the last step of the process that breaks down pyrimidines. This step converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous system. Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. Research suggests that beta-alanine is involved in sending signals between nerve cells (synaptic transmission) and in controlling the level of a chemical messenger (neurotransmitter) called dopamine. UPB1 gene mutations can reduce or eliminate beta-ureidopropionase enzyme activity. Loss of this enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor molecules, N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine, which are released in the urine. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with beta-ureidopropionase deficiency. The extent of the reduction in enzyme activity caused by a particular UPB1 gene mutation, along with other genetic and environmental factors, may determine whether people with beta-ureidopropionase deficiency develop neurological problems and the severity of these problems.",GHR,beta-ureidopropionase deficiency +Is beta-ureidopropionase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,beta-ureidopropionase deficiency +What are the treatments for beta-ureidopropionase deficiency ?,These resources address the diagnosis or management of beta-ureidopropionase deficiency: - Genetic Testing Registry: Deficiency of beta-ureidopropionase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,beta-ureidopropionase deficiency +What is (are) congenital diaphragmatic hernia ?,"Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.",GHR,congenital diaphragmatic hernia +How many people are affected by congenital diaphragmatic hernia ?,"Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns.",GHR,congenital diaphragmatic hernia +What are the genetic changes related to congenital diaphragmatic hernia ?,"Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes. About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. Affected body systems can include the heart, brain, skeleton, intestines, genitals, kidneys, or eyes. In these individuals, the multiple abnormalities likely result from a common underlying disruption in development that affects more than one area of the body, but the specific mechanism responsible for this disruption is not clear. Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that affected individuals have no other major malformations. More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause of the condition is unknown. Researchers are studying changes in several genes involved in the development of the diaphragm as possible causes of congenital diaphragmatic hernia. Some of these genes are transcription factors, which provide instructions for making proteins that help control the activity of particular genes (gene expression). Others provide instructions for making proteins involved in cell structure or the movement (migration) of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of congenital diaphragmatic hernia, but these environmental factors have not been identified.",GHR,congenital diaphragmatic hernia +Is congenital diaphragmatic hernia inherited ?,"Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.",GHR,congenital diaphragmatic hernia +What are the treatments for congenital diaphragmatic hernia ?,"These resources address the diagnosis or management of congenital diaphragmatic hernia: - Boston Children's Hospital - Children's Hospital of Philadelphia - Columbia University Medical Center: DHREAMS - Columbia University Medical Center: Hernia Repair - Gene Review: Gene Review: Congenital Diaphragmatic Hernia Overview - Genetic Testing Registry: Congenital diaphragmatic hernia - Genetic Testing Registry: Diaphragmatic hernia 2 - Genetic Testing Registry: Diaphragmatic hernia 3 - MedlinePlus Encyclopedia: Diaphragmatic Hernia Repair - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia - University of California, San Francisco Fetal Treatment Center: Congenital Diaphragmatic Hernia - University of Michigan Health System These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital diaphragmatic hernia +What is (are) Miyoshi myopathy ?,"Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe. As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance. Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.",GHR,Miyoshi myopathy +How many people are affected by Miyoshi myopathy ?,"The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals.",GHR,Miyoshi myopathy +What are the genetic changes related to Miyoshi myopathy ?,"Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The protein produced from the DYSF gene, called dysferlin, is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain. The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Anoctamin-5 is thought to act as a channel, allowing charged chlorine atoms (chloride ions) to flow in and out of the endoplasmic reticulum. The regulation of chloride flow within muscle cells plays a role in controlling muscle tensing (contraction) and relaxation. DYSF or ANO5 gene mutations often result in a decrease or elimination of the corresponding protein. A lack of dysferlin leads to a reduced ability to repair damage done to the sarcolemma of muscle fibers. As a result, damage accumulates and leads to atrophy of the muscle fiber. It is unclear why this damage leads to the specific pattern of weakness and atrophy that is characteristic of Miyoshi myopathy. The effects of the loss of anoctamin-5 are also unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy.",GHR,Miyoshi myopathy +Is Miyoshi myopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Miyoshi myopathy +What are the treatments for Miyoshi myopathy ?,These resources address the diagnosis or management of Miyoshi myopathy: - Gene Review: Gene Review: ANO5-Related Muscle Diseases - Gene Review: Gene Review: Dysferlinopathy - Genetic Testing Registry: Miyoshi muscular dystrophy 1 - Genetic Testing Registry: Miyoshi muscular dystrophy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Miyoshi myopathy +What is (are) Coats plus syndrome ?,"Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss. People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function. Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called caf-au-lait spots. Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.",GHR,Coats plus syndrome +How many people are affected by Coats plus syndrome ?,Coats plus syndrome appears to be a rare disorder. Its prevalence is unknown.,GHR,Coats plus syndrome +What are the genetic changes related to Coats plus syndrome ?,"Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the copying (replication) of telomeres. The CST complex helps prevent telomeres from being degraded in some cells as the cells divide. Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. However, it is unclear how CTC1 gene mutations impact telomere structure and function. Some studies have found that people with CTC1 gene mutations have abnormally short telomeres, while other studies have found no change in telomere length. Researchers are working to determine how telomeres are different in people with CTC1 gene mutations and how these changes could underlie the varied signs and symptoms of Coats plus syndrome.",GHR,Coats plus syndrome +Is Coats plus syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Coats plus syndrome +What are the treatments for Coats plus syndrome ?,These resources address the diagnosis or management of Coats plus syndrome: - Genetic Testing Registry: Cerebroretinal microangiopathy with calcifications and cysts These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Coats plus syndrome +What is (are) Duchenne and Becker muscular dystrophy ?,"Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate. Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in many cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond. A related condition called DMD-associated dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with DMD-associated dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing.",GHR,Duchenne and Becker muscular dystrophy +How many people are affected by Duchenne and Becker muscular dystrophy ?,"Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year.",GHR,Duchenne and Becker muscular dystrophy +What are the genetic changes related to Duchenne and Becker muscular dystrophy ?,"Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Dystrophin may also play a role in chemical signaling within cells. Mutations in the DMD gene alter the structure or function of dystrophin or prevent any functional dystrophin from being produced. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies. Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy. Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies.",GHR,Duchenne and Becker muscular dystrophy +Is Duchenne and Becker muscular dystrophy inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two-thirds of cases, an affected male inherits the mutation from his mother, who carries one altered copy of the DMD gene. The other one-third of cases probably result from new mutations in the gene in affected males and are not inherited. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including cardiomyopathy.",GHR,Duchenne and Becker muscular dystrophy +What are the treatments for Duchenne and Becker muscular dystrophy ?,These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystrophy - Genetic Testing Registry: Duchenne muscular dystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Becker Muscular Dystrophy - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Duchenne Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Duchenne and Becker muscular dystrophy +What is (are) Nicolaides-Baraitser syndrome ?,"Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often noticeable in infancy. The amount of hair decreases over time, but the growth rate and texture of the hair that is present is normal. Affected adults generally have very little hair. In rare cases, the amount of scalp hair increases over time. As affected individuals age, their eyebrows may become less full, but their eyelashes almost always remain normal. At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time. Most affected individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow. The characteristic facial features of people with Nicolaides-Baraitser syndrome include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip. Many affected individuals have a lack of fat under the skin (subcutaneous fat) of the face, which may cause premature wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome may have pale skin with veins that are visible on the skin surface due to the lack of subcutaneous fat. In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap). Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication. Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums. Other signs and symptoms of Nicolaides-Baraitser syndrome include an inflammatory skin disorder called eczema. About half of individuals with Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals have dental abnormalities such as widely spaced teeth, delayed eruption of teeth, and absent teeth (hypodontia). Most affected males have undescended testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half of individuals with Nicolaides-Baraitser syndrome have feeding problems.",GHR,Nicolaides-Baraitser syndrome +How many people are affected by Nicolaides-Baraitser syndrome ?,Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.,GHR,Nicolaides-Baraitser syndrome +What are the genetic changes related to Nicolaides-Baraitser syndrome ?,"Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. To provide energy for chromatin remodeling, the SMARCA2 protein uses a molecule called ATP. The SMARCA2 gene mutations that cause Nicolaides-Baraitser syndrome result in the production of an altered protein that interferes with the normal function of the SWI/SNF complexes. These altered proteins are able to form SWI/SNF complexes, but the complexes are nonfunctional. As a result, they cannot participate in chromatin remodeling. Disturbance of this regulatory process alters the activity of many genes, which likely explains the diverse signs and symptoms of Nicolaides-Baraitser syndrome.",GHR,Nicolaides-Baraitser syndrome +Is Nicolaides-Baraitser syndrome inherited ?,"Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GHR,Nicolaides-Baraitser syndrome +What are the treatments for Nicolaides-Baraitser syndrome ?,These resources address the diagnosis or management of Nicolaides-Baraitser syndrome: - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome - Genetic Testing Registry: Nicolaides-Baraitser syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Nicolaides-Baraitser syndrome +What is (are) progressive pseudorheumatoid dysplasia ?,"Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD. PPRD usually begins in childhood, between ages 3 and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem by adolescence. Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. Affected adults also have abnormal deposits of calcium around the elbow, knee, and hip joints and limited movement in all joints, including those of the spine. PPRD is often mistaken for another joint disorder that affects young people called juvenile rheumatoid arthritis. However, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not.",GHR,progressive pseudorheumatoid dysplasia +How many people are affected by progressive pseudorheumatoid dysplasia ?,"PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile rheumatoid arthritis.",GHR,progressive pseudorheumatoid dysplasia +What are the genetic changes related to progressive pseudorheumatoid dysplasia ?,"PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. WISP3 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components. WISP3 gene mutations lead to an altered protein that may not function. Loss of WISP3 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the cartilage degeneration and joint problems that occur in PPRD.",GHR,progressive pseudorheumatoid dysplasia +Is progressive pseudorheumatoid dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,progressive pseudorheumatoid dysplasia +What are the treatments for progressive pseudorheumatoid dysplasia ?,These resources address the diagnosis or management of progressive pseudorheumatoid dysplasia: - Cedars-Sinai: Skeletal Dysplasias - Gene Review: Gene Review: Progressive Pseudorheumatoid Dysplasia - Genetic Testing Registry: Progressive pseudorheumatoid dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,progressive pseudorheumatoid dysplasia +What is (are) juvenile hyaline fibromatosis ?,"Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. These skin bumps can also develop in joint creases and the genital region. They vary in size and are sometimes painful. Affected individuals usually develop more skin bumps over time. Juvenile hyaline fibromatosis is also characterized by overgrowth of the gums (gingival hypertrophy) and joint deformities (contractures) that can impair movement. In addition, affected individuals may grow slowly and have bone abnormalities. People with juvenile hyaline fibromatosis typically have severe physical limitations, but most individuals have normal intelligence and live into adulthood.",GHR,juvenile hyaline fibromatosis +How many people are affected by juvenile hyaline fibromatosis ?,The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people with this disorder have been reported.,GHR,juvenile hyaline fibromatosis +What are the genetic changes related to juvenile hyaline fibromatosis ?,"Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause juvenile hyaline fibromatosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of juvenile hyaline fibromatosis are caused by the accumulation of a clear (hyaline) substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.",GHR,juvenile hyaline fibromatosis +Is juvenile hyaline fibromatosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,juvenile hyaline fibromatosis +What are the treatments for juvenile hyaline fibromatosis ?,"These resources address the diagnosis or management of juvenile hyaline fibromatosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,juvenile hyaline fibromatosis +What is (are) succinate-CoA ligase deficiency ?,"Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently. Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. In most affected children, a substance called methylmalonic acid builds up abnormally in the body and is excreted in urine (methylmalonic aciduria). Most children with succinate-CoA ligase deficiency also experience a failure to thrive, which means that they gain weight and grow more slowly than expected. Succinate-CoA ligase deficiency causes breathing difficulties that often lead to recurrent infections of the respiratory tract. These infections can be life-threatening, and most people with succinate-CoA ligase deficiency live only into childhood or adolescence. A few individuals with succinate-CoA ligase deficiency have had an even more severe form of the disorder known as fatal infantile lactic acidosis. Affected infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in the first day of life, which leads to muscle weakness and breathing difficulties. Children with fatal infantile lactic acidosis usually live only a few days after birth.",GHR,succinate-CoA ligase deficiency +How many people are affected by succinate-CoA ligase deficiency ?,"Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean.",GHR,succinate-CoA ligase deficiency +What are the genetic changes related to succinate-CoA ligase deficiency ?,"Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subunit) of an enzyme called succinate-CoA ligase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Succinate-CoA ligase is involved in producing and maintaining the building blocks of mitochondrial DNA. Mutations in either the SUCLA2 or SUCLG1 gene disrupt the normal function of succinate-CoA ligase. A shortage (deficiency) of this enzyme leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to hypotonia, muscle weakness, and the other characteristic features of succinate-CoA ligase deficiency.",GHR,succinate-CoA ligase deficiency +Is succinate-CoA ligase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,succinate-CoA ligase deficiency +What are the treatments for succinate-CoA ligase deficiency ?,"These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Lactic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,succinate-CoA ligase deficiency +What is (are) lymphangioleiomyomatosis ?,"Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. LAM is found almost exclusively in women. It usually occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM. Signs and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax). The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation. Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.",GHR,lymphangioleiomyomatosis +How many people are affected by lymphangioleiomyomatosis ?,"Sporadic LAM is estimated to occur in 2 to 5 per million women worldwide. This condition may be underdiagnosed because its symptoms are similar to those of other lung disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease.",GHR,lymphangioleiomyomatosis +What are the genetic changes related to lymphangioleiomyomatosis ?,"Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. When both copies of the TSC1 gene are mutated in a particular cell, that cell cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of these proteins allows the cell to grow and divide in an uncontrolled way, resulting in the tumors and cysts associated with LAM. It is not well understood why LAM occurs predominantly in women. Researchers believe that the female sex hormone estrogen may be involved in the development of the disorder.",GHR,lymphangioleiomyomatosis +Is lymphangioleiomyomatosis inherited ?,"Sporadic LAM is not inherited. Instead, researchers suggest that it is caused by a random mutation in the TSC1 or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the gene, while others have the mutated version. This situation is called mosaicism. When a mutation occurs in the other copy of the TSC1 or TSC2 gene in certain cells during a woman's lifetime (a somatic mutation), she may develop LAM. These women typically have no history of this disorder in their family.",GHR,lymphangioleiomyomatosis +What are the treatments for lymphangioleiomyomatosis ?,"These resources address the diagnosis or management of LAM: - Canadian Lung Association - Genetic Testing Registry: Lymphangiomyomatosis - Merck Manual for Healthcare Professionals - National Heart, Lung, and Blood Institute: How is LAM Diagnosed? - National Heart, Lung, and Blood Institute: How is LAM Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,lymphangioleiomyomatosis +What is (are) medullary cystic kidney disease type 1 ?,"Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure. Declining kidney function in people with MCKD1 leads to the signs and symptoms of the condition. The features are variable, even among members of the same family. Many individuals with MCKD1 develop high blood pressure (hypertension), especially as kidney function worsens. Some develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. In a small number of affected individuals, the buildup of this waste product can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Although the condition is named medullary cystic kidney disease, only about 40 percent of affected individuals have medullary cysts, which are fluid filled pockets found in a particular region of the kidney. When present, the cysts are usually found in the inner part of the kidney (the medullary region) or the border between the inner and outer parts (corticomedullary region). These cysts are visible by tests such as ultrasound or CT scan.",GHR,medullary cystic kidney disease type 1 +How many people are affected by medullary cystic kidney disease type 1 ?,"MCKD1 is a rare disorder, although its prevalence is unknown.",GHR,medullary cystic kidney disease type 1 +What are the genetic changes related to medullary cystic kidney disease type 1 ?,"MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and protects them from foreign invaders and other particles. In addition to its role in mucus, mucin 1 relays signals from outside the cell to the cell's nucleus. Through this cellular signaling, mucin 1 is thought to be involved in the growth, movement, and survival of cells. Research suggests that mucin 1 plays a role in the normal development of the kidneys. MCKD1 is caused by the insertion of a single DNA building block (nucleotide) called cytosine into the MUC1 gene. These mutations have been found in one particular region of the gene. They lead to the production of an altered protein. It is unclear how this change causes kidney disease.",GHR,medullary cystic kidney disease type 1 +Is medullary cystic kidney disease type 1 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,medullary cystic kidney disease type 1 +What are the treatments for medullary cystic kidney disease type 1 ?,These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,medullary cystic kidney disease type 1 +What is (are) oculofaciocardiodental syndrome ?,"Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness. People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate. Heart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse). Teeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.",GHR,oculofaciocardiodental syndrome +How many people are affected by oculofaciocardiodental syndrome ?,OFCD syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people.,GHR,oculofaciocardiodental syndrome +What are the genetic changes related to oculofaciocardiodental syndrome ?,"Mutations in the BCOR gene cause OFCD syndrome. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. Several mutations in the BCOR gene have been found in people with OFCD syndrome. These mutations prevent the production of any functional protein from the altered gene, which disrupts the normal development of the eyes and several other organs and tissues before birth.",GHR,oculofaciocardiodental syndrome +Is oculofaciocardiodental syndrome inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of BCL6 corepressor protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of OFCD syndrome. In males (who have only one X chromosome), mutations result in a total loss of the BCL6 corepressor protein. A lack of this protein appears to be lethal very early in development, so no males are born with OFCD syndrome.",GHR,oculofaciocardiodental syndrome +What are the treatments for oculofaciocardiodental syndrome ?,These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,oculofaciocardiodental syndrome +What is (are) congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ?,"Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types. Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (ambiguous genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life. Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.",GHR,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +How many people are affected by congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ?,"CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This condition is more common in Moroccan Jews living in Israel, occurring in approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to 11-beta-hydroxylase deficiency appears to be much more common than the non-classic form.",GHR,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +What are the genetic changes related to congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ?,"Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, where it helps produce hormones called cortisol and corticosterone. Cortisol has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. Corticosterone gets converted to the hormone aldosterone, which helps control blood pressure by maintaining proper salt and fluid levels in the body. CAH due to 11-beta-hydroxylase deficiency is caused by a shortage (deficiency) of the 11-beta-hydroxylase enzyme. When 11-beta-hydroxylase is lacking, precursors that are used to form cortisol and corticosterone build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development, particularly in females with CAH due to 11-beta-hydroxylase deficiency. A buildup in the precursors used to form corticosterone increases salt retention, leading to hypertension in individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency. The amount of functional 11-beta-hydroxylase enzyme that an individual produces typically determines the extent of abnormal sexual development. Individuals with the classic form of the condition usually have CYP11B1 gene mutations that result in the production of an enzyme with low levels of function or no function at all. Individuals with the non-classic form of the condition typically have CYP11B1 gene mutations that lead to the production of an enzyme with moderately reduced function. The severity of the signs and symptoms of sexual development do not appear to be related to the severity of the hypertension.",GHR,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +Is congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +What are the treatments for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ?,These resources address the diagnosis or management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: - Genetic Testing Registry: Deficiency of steroid 11-beta-monooxygenase - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +What is (are) Canavan disease ?,"Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. The mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease. The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.",GHR,Canavan disease +How many people are affected by Canavan disease ?,"While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown.",GHR,Canavan disease +What are the genetic changes related to Canavan disease ?,"Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspected that it played a role in the production of the myelin sheath, but recent studies suggest that NAA does not have this function. The enzyme may instead be involved in the transport of water molecules out of neurons. Mutations in the ASPA gene reduce the function of aspartoacylase, which prevents the normal breakdown of NAA. The mutations that cause the neonatal/infantile form of Canavan disease severely impair the enzyme's activity, allowing NAA to build up to high levels in the brain. The mutations that cause the mild/juvenile form of the disorder have milder effects on the enzyme's activity, leading to less accumulation of NAA. An excess of NAA in the brain is associated with the signs and symptoms of Canavan disease. Studies suggest that if NAA is not broken down properly, the resulting chemical imbalance interferes with the formation of the myelin sheath as the nervous system develops. A buildup of NAA also leads to the progressive destruction of existing myelin sheaths. Nerves without this protective covering malfunction, which disrupts normal brain development.",GHR,Canavan disease +Is Canavan disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Canavan disease +What are the treatments for Canavan disease ?,"These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus Encyclopedia: Canavan Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Canavan disease +What is (are) X-linked lymphoproliferative disease ?,"X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects most humans. In some people it causes infectious mononucleosis (commonly known as ""mono""). Normally, after initial infection, EBV remains in certain immune system cells (lymphocytes) called B cells. However, the virus is generally inactive (latent) because it is controlled by other lymphocytes called T cells that specifically target EBV-infected B cells. People with XLP may respond to EBV infection by producing abnormally large numbers of T cells, B cells, and other lymphocytes called macrophages. This proliferation of immune cells often causes a life-threatening reaction called hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis causes fever, destroys blood-producing cells in the bone marrow, and damages the liver. The spleen, heart, kidneys, and other organs and tissues may also be affected. In some individuals with XLP, hemophagocytic lymphohistiocytosis or related symptoms may occur without EBV infection. About one-third of people with XLP experience dysgammaglobulinemia, which means they have abnormal levels of some types of antibodies. Antibodies (also known as immunoglobulins) are proteins that attach to specific foreign particles and germs, marking them for destruction. Individuals with dysgammaglobulinemia are prone to recurrent infections. Cancers of immune system cells (lymphomas) occur in about one-third of people with XLP. Without treatment, most people with XLP survive only into childhood. Death usually results from hemophagocytic lymphohistiocytosis. XLP can be divided into two types based on its genetic cause and pattern of signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2 have not been known to develop lymphoma, are more likely to develop hemophagocytic lymphohistiocytosis without EBV infection, usually have an enlarged spleen (splenomegaly), and may also have inflammation of the large intestine (colitis). Some researchers believe that these individuals should actually be considered to have a similar but separate disorder rather than a type of XLP.",GHR,X-linked lymphoproliferative disease +How many people are affected by X-linked lymphoproliferative disease ?,"XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males.",GHR,X-linked lymphoproliferative disease +What are the genetic changes related to X-linked lymphoproliferative disease ?,"Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized T cells called natural killer T cells. The SAP protein also helps control immune reactions by triggering self-destruction (apoptosis) of cytotoxic lymphocytes when they are no longer needed. Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. The loss of functional SAP disrupts proper signaling in the immune system and may prevent the body from controlling the immune reaction to EBV infection. In addition, lymphomas may develop when defective lymphocytes are not properly destroyed by apoptosis. The XIAP gene provides instructions for making a protein that helps protect cells from undergoing apoptosis in response to certain signals. XIAP gene mutations can lead to an absence of XIAP protein or decrease the amount of XIAP protein that is produced. It is unknown how a lack of XIAP protein results in the signs and symptoms of XLP, or why features of this disorder differ somewhat between people with XIAP and SH2D1A gene mutations.",GHR,X-linked lymphoproliferative disease +Is X-linked lymphoproliferative disease inherited ?,"This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of an associated gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of an associated gene, males are affected by X-linked recessive disorders much more frequently than females. However, in rare cases a female carrying one altered copy of the SH2D1A or XIAP gene in each cell may develop signs and symptoms of this condition.",GHR,X-linked lymphoproliferative disease +What are the treatments for X-linked lymphoproliferative disease ?,"These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - Merck Manual for Healthcare Professionals - XLP Research Trust: Immunoglobulin Replacement - XLP Research Trust: Preparing for Bone Marrow Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked lymphoproliferative disease +What is (are) lattice corneal dystrophy type I ?,"Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.",GHR,lattice corneal dystrophy type I +How many people are affected by lattice corneal dystrophy type I ?,"Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown.",GHR,lattice corneal dystrophy type I +What are the genetic changes related to lattice corneal dystrophy type I ?,"Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. The protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration). The TGFBI gene mutations involved in lattice corneal dystrophy type I change single protein building blocks (amino acids) in the TGFBI protein. Mutated TGFBI proteins abnormally clump together and form amyloid deposits. However, it is unclear how the changes caused by the gene mutations induce the protein to form deposits.",GHR,lattice corneal dystrophy type I +Is lattice corneal dystrophy type I inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,lattice corneal dystrophy type I +What are the treatments for lattice corneal dystrophy type I ?,These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lattice corneal dystrophy type I +What is (are) pyridoxal 5'-phosphate-dependent epilepsy ?,"Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely and may have a temporary, potentially toxic, increase in lactic acid in the blood (lactic acidosis). Additionally, some infants have a slow heart rate and a lack of oxygen during delivery (fetal distress). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, individuals with this type of epilepsy are medically treated with large daily doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death. Even though seizures can be controlled with pyridoxal 5'-phosphate, neurological problems such as developmental delay and learning disorders may still occur.",GHR,pyridoxal 5'-phosphate-dependent epilepsy +How many people are affected by pyridoxal 5'-phosphate-dependent epilepsy ?,Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature.,GHR,pyridoxal 5'-phosphate-dependent epilepsy +What are the genetic changes related to pyridoxal 5'-phosphate-dependent epilepsy ?,"Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the active form of vitamin B6 called pyridoxal 5'-phosphate (PLP). PLP is necessary for many processes in the body including protein metabolism and the production of chemicals that transmit signals in the brain (neurotransmitters). PNPO gene mutations result in a pyridoxine 5'-phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. It is not clear how the lack of PLP affects the brain and leads to the seizures that are characteristic of pyridoxal 5'-phosphate-dependent epilepsy.",GHR,pyridoxal 5'-phosphate-dependent epilepsy +Is pyridoxal 5'-phosphate-dependent epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pyridoxal 5'-phosphate-dependent epilepsy +What are the treatments for pyridoxal 5'-phosphate-dependent epilepsy ?,These resources address the diagnosis or management of pyridoxal 5'-phosphate-dependent epilepsy: - Genetic Testing Registry: Pyridoxal 5'-phosphate-dependent epilepsy - MedlinePlus Encyclopedia: Lactic acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pyridoxal 5'-phosphate-dependent epilepsy +What is (are) complete LCAT deficiency ?,"Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications. Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).",GHR,complete LCAT deficiency +How many people are affected by complete LCAT deficiency ?,Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature.,GHR,complete LCAT deficiency +What are the genetic changes related to complete LCAT deficiency ?,"Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.",GHR,complete LCAT deficiency +Is complete LCAT deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,complete LCAT deficiency +What are the treatments for complete LCAT deficiency ?,"These resources address the diagnosis or management of complete LCAT deficiency: - Genetic Testing Registry: Norum disease - MedlinePlus Encyclopedia: Corneal Transplant - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? - National Institutes of Diabetes and Digestive and Kidney Diseases: Kidney Failure -- Choosing a Treatment That's Right for You - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,complete LCAT deficiency +What is (are) lung cancer ?,"Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing problems, trouble swallowing or speaking, blood in the mucus, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked. Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent. Small cell lung cancer grows quickly and often spreads to other tissues (metastasizes), most commonly to the adrenal glands (small hormone-producing glands located on top of each kidney), liver, brain, and bones. In more than half of cases, the small cell lung cancer has spread beyond the lung at the time of diagnosis. After diagnosis, most people with small cell lung cancer survive for about one year; less than seven percent survive 5 years. Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from the squamous cells that line the passages leading from the windpipe to the lungs (bronchi). Large cell carcinoma describes non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. As the name suggests, the tumor cells are large when viewed under a microscope. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.",GHR,lung cancer +How many people are affected by lung cancer ?,"In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. It is the leading cause of cancer deaths, accounting for an estimated 27 percent of all cancer deaths in the United States.",GHR,lung cancer +What are the genetic changes related to lung cancer ?,"Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases of lung cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the lung. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in lung cancer cells. Mutations in the EGFR and KRAS genes are estimated to be present in up to half of all lung cancer cases. These genes each provide instructions for making a protein that is embedded within the cell membrane. When these proteins are turned on (activated) by binding to other molecules, signaling pathways are triggered within cells that promote cell growth and division (proliferation). Mutations in either the EGFR or KRAS gene lead to the production of a protein that is constantly turned on (constitutively activated). As a result, cells are signaled to constantly proliferate, leading to tumor formation. When these gene changes occur in cells in the lungs, lung cancer develops. Mutations in many other genes have each been found in a small proportion of cases. In addition to genetic changes, researchers have identified many personal and environmental factors that expose individuals to cancer-causing compounds (carcinogens) and increase the rate at which somatic mutations occur, contributing to a person's risk of developing lung cancer. The greatest risk factor is long-term tobacco smoking, which increases a person's risk of developing lung cancer 20-fold. Other risk factors include exposure to air pollution, radon, asbestos, or secondhand smoke; long-term use of hormone replacement therapy for menopause; and a history of lung disease such as tuberculosis, emphysema, or chronic bronchitis. A history of lung cancer in closely related family members is also an important risk factor; however, because relatives with lung cancer were likely smokers, it is unclear whether the increased risk of lung cancer is the result of genetic factors or exposure to secondhand smoke.",GHR,lung cancer +Is lung cancer inherited ?,"Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop lung cancer.",GHR,lung cancer +What are the treatments for lung cancer ?,These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung Cancer--Non-Small Cell - MedlinePlus Encyclopedia: Lung Cancer--Small Cell - National Cancer Institute: Drugs Approved for Lung Cancer - National Cancer Institute: Non-Small Cell Lung Cancer Treatment - National Cancer Institute: Small Cell Lung Cancer Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lung cancer +"What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage. People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts may grow larger over time. Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these aneurysms typically do not burst. About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Muscle cramps experienced by most people with HANAC syndrome typically begin in early childhood. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Muscle cramps can be spontaneous or triggered by exercise. Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye. Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. As a result, the skin around the affected area may turn white or blue for a brief period of time and the area may tingle or throb. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage.",GHR,"hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"How many people are affected by hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature.",GHR,"hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.",GHR,"hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"Is hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,"hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +"What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" +What is (are) breast cancer ?,"Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.",GHR,breast cancer +How many people are affected by breast cancer ?,"Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 2015. Male breast cancer represents less than 1 percent of all breast cancer diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will be diagnosed in men in 2015. Particular gene mutations associated with breast cancer are more common among certain geographic or ethnic groups, such as people of Ashkenazi (central or eastern European) Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry.",GHR,breast cancer +What are the genetic changes related to breast cancer ?,"Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the breast. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in breast cancer cells. Less commonly, gene mutations present in essentially all of the body's cells increase the risk of developing breast cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop breast cancer. Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. These genes are described as ""high penetrance"" because they are associated with a high risk of developing breast cancer, ovarian cancer, and several other types of cancer in women who have mutations. Men with mutations in these genes also have an increased risk of developing several forms of cancer, including breast cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. They are described as tumor suppressors because they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor. A significantly increased risk of breast cancer is also a feature of several rare genetic syndromes. These include Cowden syndrome, which is most often caused by mutations in the PTEN gene; hereditary diffuse gastric cancer, which results from mutations in the CDH1 gene; Li-Fraumeni syndrome, which is usually caused by mutations in the TP53 gene; and Peutz-Jeghers syndrome, which typically results from mutations in the STK11 gene. The proteins produced from these genes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered ""high penetrance"" because mutations greatly increase a person's chance of developing cancer. In addition to breast cancer, mutations in these genes increase the risk of several other types of cancer over a person's lifetime. Some of the conditions also include other signs and symptoms, such as the growth of noncancerous (benign) tumors. Mutations in dozens of other genes have been studied as possible risk factors for breast cancer. These genes are described as ""low penetrance"" or ""moderate penetrance"" because changes in each of these genes appear to make only a small or moderate contribution to overall breast cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing breast cancer. In many families, the genetic changes associated with hereditary breast cancer are unknown. Identifying additional genetic risk factors for breast cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a person's risk of developing breast cancer. These factors include gender, age, ethnic background, a history of previous breast cancer, certain changes in breast tissue, and hormonal and reproductive factors. A history of breast cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.",GHR,breast cancer +Is breast cancer inherited ?,"Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families. In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although breast cancer is more common in women than in men, the mutated gene can be inherited from either the mother or the father. In the other syndromes discussed above, the gene mutations that increase cancer risk also have an autosomal dominant pattern of inheritance. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer. In many cases of breast cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.",GHR,breast cancer +What are the treatments for breast cancer ?,These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndrome - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Familial cancer of breast - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer - National Cancer Institute: Breast Cancer Risk Assessment Tool - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,breast cancer +What is (are) transthyretin amyloidosis ?,"Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70. There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments in bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or ""scalloped"" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of protein in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those in the neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are said to have the oculoleptomeningeal form. The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.",GHR,transthyretin amyloidosis +How many people are affected by transthyretin amyloidosis ?,"The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. The cardiac form of transthyretin amyloidosis is more common among people with African ancestry. It is estimated that this form affects between 3 percent and 3.9 percent of African Americans and approximately 5 percent of people in some areas of West Africa.",GHR,transthyretin amyloidosis +What are the genetic changes related to transthyretin amyloidosis ?,"Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina). TTR gene mutations are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function.",GHR,transthyretin amyloidosis +Is transthyretin amyloidosis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Rarely, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Not all people who have a TTR gene mutation will develop transthyretin amyloidosis.",GHR,transthyretin amyloidosis +What are the treatments for transthyretin amyloidosis ?,These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis - MedlinePlus Encyclopedia: Autonomic neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,transthyretin amyloidosis +What is (are) caudal regression syndrome ?,"Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals. Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs. Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis). People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function.",GHR,caudal regression syndrome +How many people are affected by caudal regression syndrome ?,"Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns.",GHR,caudal regression syndrome +What are the genetic changes related to caudal regression syndrome ?,"Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is thought that increased blood sugar levels and other metabolic problems related to diabetes may have a harmful effect on a developing fetus, increasing the likelihood of developing caudal regression syndrome. The risks to the fetus are further increased if the mother's diabetes is poorly managed. Caudal regression syndrome also occurs in infants of non-diabetic mothers, so researchers are trying to identify other factors that contribute to the development of this complex disorder. Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The developmental problem is thought to affect the middle layer of embryonic tissue known as the mesoderm. Disruption of normal mesoderm development impairs normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system. Other researchers think that caudal regression syndrome results from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus. Decreased blood flow to these areas is thought to interfere with their development and result in the signs and symptoms of caudal regression syndrome. Some scientists believe that the abnormal development of the mesoderm causes the reduction of blood flow, while other scientists believe that the reduction in blood flow causes the abnormal mesoderm development. Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus.",GHR,caudal regression syndrome +Is caudal regression syndrome inherited ?,"Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition.",GHR,caudal regression syndrome +What are the treatments for caudal regression syndrome ?,These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,caudal regression syndrome +What is (are) systemic lupus erythematosus ?,"Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs. SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a ""butterfly rash"" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of blood clotting cells called platelets that leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals. About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE. People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.",GHR,systemic lupus erythematosus +How many people are affected by systemic lupus erythematosus ?,"For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals. In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.",GHR,systemic lupus erythematosus +What are the genetic changes related to systemic lupus erythematosus ?,"Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder. About 10 percent of SLE cases are thought to be triggered by drug exposure, and more than 80 drugs that may be involved have been identified. In people with SLE, cells that have undergone self-destruction (apoptosis) because they are damaged or no longer needed are not cleared away properly. The relationship of this loss of function to the cause or features of SLE is unclear. Researchers suggest that these dead cells may release substances that cause the immune system to react inappropriately and attack the body's tissues, resulting in the signs and symptoms of SLE.",GHR,systemic lupus erythematosus +Is systemic lupus erythematosus inherited ?,"SLE and other autoimmune disorders tend to run in families, but the inheritance pattern is usually unknown. People may inherit a gene variation that increases or decreases the risk of SLE, but in most cases do not inherit the condition itself. Not all people with SLE have a gene variation that increases the risk, and not all people with such a gene variation will develop the disorder. In rare cases, SLE can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,systemic lupus erythematosus +What are the treatments for systemic lupus erythematosus ?,These resources address the diagnosis or management of systemic lupus erythematosus: - MedlinePlus Encyclopedia: Antinuclear Antibody Panel These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,systemic lupus erythematosus +What is (are) ataxia with vitamin E deficiency ?,"Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.",GHR,ataxia with vitamin E deficiency +How many people are affected by ataxia with vitamin E deficiency ?,"Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.",GHR,ataxia with vitamin E deficiency +What are the genetic changes related to ataxia with vitamin E deficiency ?,"Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called -tocopherol) to cells and tissues throughout the body. Vitamin E helps cells prevent damage that might be done by free radicals. TTPA gene mutations impair the activity of the TTP protein, resulting in an inability to retain and use dietary vitamin E. As a result, vitamin E levels in the blood are greatly reduced and free radicals accumulate within cells. Nerve cells (neurons) in the brain and spinal cord (central nervous system) are particularly vulnerable to the damaging effects of free radicals and these cells die off when they are deprived of vitamin E. Nerve cell damage can lead to problems with movement and other features of ataxia with vitamin E deficiency.",GHR,ataxia with vitamin E deficiency +Is ataxia with vitamin E deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ataxia with vitamin E deficiency +What are the treatments for ataxia with vitamin E deficiency ?,These resources address the diagnosis or management of ataxia with vitamin E deficiency: - Gene Review: Gene Review: Ataxia with Vitamin E Deficiency - Genetic Testing Registry: Ataxia with vitamin E deficiency - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Vitamin E These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ataxia with vitamin E deficiency +What is (are) mucolipidosis type IV ?,"Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV. Approximately 95 percent of individuals with this condition have the severe form. People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay). Motor skills include sitting, standing, walking, grasping objects, and writing. Psychomotor delay is moderate to severe and usually becomes apparent during the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into abnormal muscle stiffness (spasticity), and problems controlling hand movements. Most people with typical mucolipidosis type IV are unable to walk independently. In about 15 percent of affected individuals, the psychomotor problems worsen over time. Vision may be normal at birth in people with typical mucolipidosis type IV, but it becomes increasingly impaired during the first decade of life. Individuals with this condition develop clouding of the clear covering of the eye (cornea) and progressive breakdown of the light-sensitive layer at the back of the eye (retina). By their early teens, affected individuals have severe vision loss or blindness. People with typical mucolipidosis type IV also have impaired production of stomach acid (achlorhydria). Achlorhydria does not cause any symptoms in these individuals, but it does result in unusually high levels of gastrin in the blood. Gastrin is a hormone that regulates the production of stomach acid. Individuals with mucolipidosis type IV may not have enough iron in their blood, which can lead to a shortage of red blood cells (anemia). People with the severe form of this disorder usually survive to adulthood; however, they may have a shortened lifespan. About 5 percent of affected individuals have atypical mucolipidosis type IV. These individuals usually have mild psychomotor delay and may develop the ability to walk. People with atypical mucolipidosis type IV tend to have milder eye abnormalities than those with the severe form of the disorder. Achlorhydria also may be present in mildly affected individuals.",GHR,mucolipidosis type IV +How many people are affected by mucolipidosis type IV ?,"Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.",GHR,mucolipidosis type IV +What are the genetic changes related to mucolipidosis type IV ?,"Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. Mucolipin-1 appears to be important for the development and maintenance of the brain and retina. In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids. Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.",GHR,mucolipidosis type IV +Is mucolipidosis type IV inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucolipidosis type IV +What are the treatments for mucolipidosis type IV ?,These resources address the diagnosis or management of mucolipidosis type IV: - Gene Review: Gene Review: Mucolipidosis IV - Genetic Testing Registry: Ganglioside sialidase deficiency - MedlinePlus Encyclopedia: Gastrin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucolipidosis type IV +What is (are) Wagner syndrome ?,"Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.",GHR,Wagner syndrome +How many people are affected by Wagner syndrome ?,"Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands.",GHR,Wagner syndrome +What are the genetic changes related to Wagner syndrome ?,"Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Versican interacts with many of these proteins and molecules to facilitate the assembly of the extracellular matrix and ensure its stability. Within the eye, versican interacts with other proteins to maintain the structure and gel-like consistency of the vitreous. VCAN gene mutations that cause Wagner syndrome lead to insufficient levels of versican in the vitreous. Without enough versican to interact with the many proteins of the vitreous, the structure becomes unstable. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems that occur in people with Wagner syndrome. It is unknown why VCAN gene mutations seem solely to affect vision.",GHR,Wagner syndrome +Is Wagner syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Wagner syndrome +What are the treatments for Wagner syndrome ?,These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wagner syndrome +What is (are) facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood. Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball. The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair. Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing. Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.",GHR,facioscapulohumeral muscular dystrophy +How many people are affected by facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2.",GHR,facioscapulohumeral muscular dystrophy +What are the genetic changes related to facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. The entire D4Z4 region is normally hypermethylated, which means that it has a large number of methyl groups (consisting of one carbon atom and three hydrogen atoms) attached to the DNA. The addition of methyl groups turns off (silences) genes, so hypermethylated regions of DNA tend to have fewer genes that are turned on (active). Facioscapulohumeral muscular dystrophy results when the D4Z4 region is hypomethylated, with a shortage of attached methyl groups. In FSHD1, hypomethylation occurs because the D4Z4 region is abnormally shortened (contracted), containing between 1 and 10 repeats instead of the usual 11 to 100 repeats. In FSHD2, hypomethylation most often results from mutations in a gene called SMCHD1, which provides instructions for making a protein that normally hypermethylates the D4Z4 region. However, about 20 percent of people with FSHD2 do not have an identified mutation in the SMCHD1 gene, and the cause of the hypomethylation is unknown. Hypermethylation of the D4Z4 region normally keeps a gene called DUX4 silenced in most adult cells and tissues. The DUX4 gene is located in the segment of the D4Z4 region closest to the end of chromosome 4. In people with facioscapulohumeral muscular dystrophy, hypomethylation of the D4Z4 region prevents the DUX4 gene from being silenced in cells and tissues where it is usually turned off. Although little is known about the function of the DUX4 gene when it is active, researchers believe that it influences the activity of other genes, particularly in muscle cells. It is unknown how abnormal activity of the DUX4 gene damages or destroys these cells, leading to progressive muscle weakness and atrophy. The DUX4 gene is located next to a regulatory region of DNA on chromosome 4 known as a pLAM sequence, which is necessary for the production of the DUX4 protein. Some copies of chromosome 4 have a functional pLAM sequence, while others do not. Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or ""permissive."" Those without a functional pLAM sequence are described as 4qB or ""non-permissive."" Without a functional pLAM sequence, no DUX4 protein is made. Because there are two copies of chromosome 4 in each cell, individuals may have two ""permissive"" copies of chromosome 4, two ""non-permissive"" copies, or one of each. Facioscapulohumeral muscular dystrophy can only occur in people who have at least one ""permissive"" copy of chromosome 4. Whether an affected individual has a contracted D4Z4 region or a SMCHD1 gene mutation, the disease results only if a functional pLAM sequence is also present to allow DUX4 protein to be produced. Studies suggest that mutations in the SMCHD1 gene, which cause FSHD2, can also increase the severity of the disease in people with FSHD1. Researchers suspect that the combination of a contracted D4Z4 region and a SMCHD1 gene mutation causes the D4Z4 region to have even fewer methyl groups attached, which allows the DUX4 gene to be highly active. In people with both genetic changes, the overactive gene leads to severe muscle weakness and atrophy.",GHR,facioscapulohumeral muscular dystrophy +Is facioscapulohumeral muscular dystrophy inherited ?,"FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a ""permissive"" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder in their family. These cases are described as sporadic and are caused by a new (de novo) D4Z4 contraction on one copy of a ""permissive"" chromosome 4. FSHD2 is inherited in a digenic pattern, which means that two independent genetic changes are necessary to cause the disorder. To have FSHD2, an individual must inherit a mutation in the SMCHD1 gene (which is located on chromosome 18) and, separately, they must inherit one copy of a ""permissive"" chromosome 4. Affected individuals typically inherit the SMCHD1 gene mutation from one parent and the ""permissive"" chromosome 4 from the other parent. (Because neither parent has both genetic changes in most cases, they are typically unaffected.)",GHR,facioscapulohumeral muscular dystrophy +What are the treatments for facioscapulohumeral muscular dystrophy ?,These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy: - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2 - MedlinePlus Encyclopedia: Facioscapulohumeral Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,facioscapulohumeral muscular dystrophy +What is (are) Roberts syndrome ?,"Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs. Individuals with Roberts syndrome typically have numerous facial abnormalities, including an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beaked nose. They may have a small head size (microcephaly), and in severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth. Mildly affected individuals may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts syndrome; however, it is now considered to be a mild variant. ""SC"" represents the first letters of the surnames of the two families first diagnosed with this disorder.",GHR,Roberts syndrome +How many people are affected by Roberts syndrome ?,Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported.,GHR,Roberts syndrome +What are the genetic changes related to Roberts syndrome ?,"Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate. All identified mutations in the ESCO2 gene prevent the cell from producing any functional ESCO2 protein, which causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by delaying cell division. Delayed cell division can be a signal that the cell should undergo self-destruction. The signs and symptoms of Roberts syndrome may result from the loss of cells from various tissues during early development. Because both mildly and severely affected individuals lack any functional ESCO2 protein, the underlying cause of the variation in disease severity remains unknown. Researchers suspect that other genetic and environmental factors may be involved.",GHR,Roberts syndrome +Is Roberts syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Roberts syndrome +What are the treatments for Roberts syndrome ?,These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Roberts syndrome +What is (are) cartilage-hair hypoplasia ?,"Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the cartilage near the ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are unusually flexible in some joints, but they may have difficulty extending their elbows fully. Affected individuals have hair that is lighter in color than that of other family members because the core of each hair, which contains some of the pigment that contributes the hair's color, is missing. The missing core also makes each strand of hair thinner, causing the hair to have a sparse appearance overall. Unusually light-colored skin (hypopigmentation), malformed nails, and dental abnormalities may also be seen in this disorder. The extent of the immune deficiency in cartilage-hair hypoplasia varies from mild to severe. Affected individuals with the most severe immune problems are considered to have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi and are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by ""opportunistic"" organisms that ordinarily do not cause illness in people with a normal immune system. Most people with cartilage-hair hypoplasia, even those who have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox virus (varicella) often causes dangerous infections in people with this disorder. Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs, occur in some people with cartilage-hair hypoplasia. Affected individuals are also at an increased risk of developing cancer, particularly certain skin cancers (basal cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of immune system cells (lymphoma). Some people with cartilage-hair hypoplasia experience gastrointestinal problems. These problems may include an inability to properly absorb nutrients or intolerance of a protein called gluten found in wheat and other grains (celiac disease). Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur.",GHR,cartilage-hair hypoplasia +How many people are affected by cartilage-hair hypoplasia ?,"Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. It has been reported in individuals of European and Japanese descent.",GHR,cartilage-hair hypoplasia +What are the genetic changes related to cartilage-hair hypoplasia ?,"Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP. The RNase MRP enzyme is thought to be involved in several important processes in the cell. For example, it likely helps copy (replicate) the DNA found in the energy-producing centers of cells (mitochondria). The RNase MRP enzyme probably also processes ribosomal RNA, which is required for assembling protein building blocks (amino acids) into functioning proteins. In addition, this enzyme helps control the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. Mutations in the RMRP gene likely result in the production of a noncoding RNA that is unstable. This unstable molecule cannot bind to some of the proteins needed to make the RNase MRP enzyme complex. These changes are believed to affect the activity of the enzyme, which interferes with its important functions within cells. Disruption of the RNase MRP enzyme complex causes the signs and symptoms of cartilage-hair hypoplasia.",GHR,cartilage-hair hypoplasia +Is cartilage-hair hypoplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cartilage-hair hypoplasia +What are the treatments for cartilage-hair hypoplasia ?,"These resources address the diagnosis or management of cartilage-hair hypoplasia: - Gene Review: Gene Review: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cartilage-hair hypoplasia +"What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?","T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.",GHR,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy" +"How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?","T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy.",GHR,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy" +"What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?","T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and the growth of fingernails and toenails. The FOXN1 protein also plays a critical role in the formation of the thymus, which is a gland located behind the breastbone where T cells mature and become functional. Researchers suspect that the FOXN1 protein is also involved in the development of the central nervous system, although its role is unclear. Mutations in the FOXN1 gene prevent cells from making any functional FOXN1 protein. Without this protein, hair and nails cannot grow normally. A lack of FOXN1 protein also prevents the formation of the thymus. When this gland is not present, the immune system cannot produce mature, functional T cells to fight infections. As a result, people with T-cell immunodeficiency, congenital alopecia, and nail dystrophy develop recurrent serious infections starting early in life.",GHR,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy" +"Is T-cell immunodeficiency, congenital alopecia, and nail dystrophy inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some people who carry one copy of a mutated FOXN1 gene have abnormal fingernails or toenails.",GHR,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy" +"What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?","These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dystrophy - MedlinePlus Encyclopedia: Bone Marrow Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy" +What is (are) auriculo-condylar syndrome ?,"Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears (""auriculo-"" refers to the ears). A hallmark of this condition is an ear abnormality called a ""question-mark ear,"" in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as ""simple""), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss. Abnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term ""condylar"" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ. Other features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.",GHR,auriculo-condylar syndrome +How many people are affected by auriculo-condylar syndrome ?,Auriculo-condylar syndrome appears to be a rare disorder. More than two dozen affected individuals have been described in the medical literature.,GHR,auriculo-condylar syndrome +What are the genetic changes related to auriculo-condylar syndrome ?,"Auriculo-condylar syndrome can be caused by mutations in either the GNAI3 or PLCB4 gene. These genes provide instructions for making proteins that are involved in chemical signaling within cells. They help transmit information from outside the cell to inside the cell, which instructs the cell to grow, divide, or take on specialized functions. Studies suggest that the proteins produced from the GNAI3 and PLCB4 genes contribute to the development of the first and second pharyngeal arches, which are structures in the embryo that ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues. Mutations in these genes alter the formation of the lower jaw: instead of developing normally, the lower jaw becomes shaped more like the smaller upper jaw (maxilla). This abnormal shape leads to micrognathia and problems with TMJ function. Researchers are working to determine how mutations in these genes lead to the other developmental abnormalities associated with auriculo-condylar syndrome. In some people with the characteristic features of auriculo-condylar syndrome, a mutation in the GNAI3 or PLCB4 gene has not been found. The cause of the condition is unknown in these individuals.",GHR,auriculo-condylar syndrome +Is auriculo-condylar syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who have one altered copy of the GNAI3 or PLCB4 gene have no features related to auriculo-condylar syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the condition and other people with a mutated gene do not.",GHR,auriculo-condylar syndrome +What are the treatments for auriculo-condylar syndrome ?,These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,auriculo-condylar syndrome +What is (are) isobutyryl-CoA dehydrogenase deficiency ?,"Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine. Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.",GHR,isobutyryl-CoA dehydrogenase deficiency +How many people are affected by isobutyryl-CoA dehydrogenase deficiency ?,IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.,GHR,isobutyryl-CoA dehydrogenase deficiency +What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?,"Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.",GHR,isobutyryl-CoA dehydrogenase deficiency +Is isobutyryl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,isobutyryl-CoA dehydrogenase deficiency +What are the treatments for isobutyryl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isobutyryl-CoA dehydrogenase deficiency +What is (are) Allan-Herndon-Dudley syndrome ?,"Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people. Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.",GHR,Allan-Herndon-Dudley syndrome +How many people are affected by Allan-Herndon-Dudley syndrome ?,Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide.,GHR,Allan-Herndon-Dudley syndrome +What are the genetic changes related to Allan-Herndon-Dudley syndrome ?,"Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, called triiodothyronine or T3, is produced by a butterfly-shaped gland in the lower neck called the thyroid. T3 appears to be critical for the normal formation and growth of nerve cells, as well as the development of junctions between nerve cells (synapses) where cell-to-cell communication occurs. T3 and other forms of thyroid hormone also help regulate the development of other organs and control the rate of chemical reactions in the body (metabolism). Gene mutations alter the structure and function of the SLC16A2 protein. As a result, this protein is unable to transport T3 into nerve cells effectively. A lack of this critical hormone in certain parts of the brain disrupts normal brain development, resulting in intellectual disability and problems with movement. Because T3 is not taken up by nerve cells, excess amounts of this hormone continue to circulate in the bloodstream. Increased T3 levels in the blood may be toxic to some organs and contribute to the signs and symptoms of Allan-Herndon-Dudley syndrome.",GHR,Allan-Herndon-Dudley syndrome +Is Allan-Herndon-Dudley syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the mutated gene, but usually does not experience signs and symptoms of the disorder. Carriers of SLC16A2 mutations have normal intelligence and do not experience problems with movement. Some carriers have been diagnosed with thyroid disease, a condition which is relatively common in the general population. It is unclear whether thyroid disease is related to SLC16A2 gene mutations in these cases.",GHR,Allan-Herndon-Dudley syndrome +What are the treatments for Allan-Herndon-Dudley syndrome ?,These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedia: T3 Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Allan-Herndon-Dudley syndrome +What is (are) Manitoba oculotrichoanal syndrome ?,"Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes. Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose). About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys. The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.",GHR,Manitoba oculotrichoanal syndrome +How many people are affected by Manitoba oculotrichoanal syndrome ?,"Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although this region has the highest incidence of the condition, it has also been diagnosed in a few people from other parts of the world.",GHR,Manitoba oculotrichoanal syndrome +What are the genetic changes related to Manitoba oculotrichoanal syndrome ?,"Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues such as skin and cartilage. The FREM1 gene mutations that have been identified in people with Manitoba oculotrichoanal syndrome delete genetic material from the FREM1 gene or result in a premature stop signal that leads to an abnormally short FREM1 protein. These mutations most likely result in a nonfunctional protein. Absence of functional FREM1 protein interferes with its role in embryonic basement membrane development and may also affect the location, stability, or function of the FRAS1 and FREM2 proteins. The features of Manitoba oculotrichoanal syndrome may result from the failure of neighboring embryonic tissues to fuse properly due to impairment of the basement membranes' anchoring function.",GHR,Manitoba oculotrichoanal syndrome +Is Manitoba oculotrichoanal syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Manitoba oculotrichoanal syndrome +What are the treatments for Manitoba oculotrichoanal syndrome ?,These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome: - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome - Genetic Testing Registry: Marles Greenberg Persaud syndrome - MedlinePlus Encyclopedia: Omphalocele Repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Manitoba oculotrichoanal syndrome +What is (are) juvenile Paget disease ?,"Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking.",GHR,juvenile Paget disease +How many people are affected by juvenile Paget disease ?,Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide.,GHR,juvenile Paget disease +What are the genetic changes related to juvenile Paget disease ?,"Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in the TNFRSF11B gene lead to a much faster rate of bone remodeling starting early in life. Bone tissue is broken down more quickly than usual, and when new bone tissue grows it is larger, weaker, and less organized than normal bone. This abnormally fast bone remodeling underlies the problems with bone growth characteristic of juvenile Paget disease.",GHR,juvenile Paget disease +Is juvenile Paget disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,juvenile Paget disease +What are the treatments for juvenile Paget disease ?,These resources address the diagnosis or management of juvenile Paget disease: - Genetic Testing Registry: Hyperphosphatasemia with bone disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,juvenile Paget disease +What is (are) autosomal recessive primary microcephaly ?,"Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for ""microcephaly primary hereditary"") is a condition in which infants are born with a very small head and a small brain. The term ""microcephaly"" comes from the Greek words for ""small head."" Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal. MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed. People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.",GHR,autosomal recessive primary microcephaly +How many people are affected by autosomal recessive primary microcephaly ?,"The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns.",GHR,autosomal recessive primary microcephaly +What are the genetic changes related to autosomal recessive primary microcephaly ?,"MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins produced from many of these genes help regulate cell division in the developing brain. Mutations in any of the genes associated with MCPH impair early brain development. As a result, affected infants have fewer nerve cells (neurons) than normal and are born with an unusually small brain. The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals.",GHR,autosomal recessive primary microcephaly +Is autosomal recessive primary microcephaly inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive primary microcephaly +What are the treatments for autosomal recessive primary microcephaly ?,These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Testing Registry: Primary autosomal recessive microcephaly 2 - Genetic Testing Registry: Primary autosomal recessive microcephaly 3 - Genetic Testing Registry: Primary autosomal recessive microcephaly 4 - Genetic Testing Registry: Primary autosomal recessive microcephaly 5 - Genetic Testing Registry: Primary autosomal recessive microcephaly 6 - Genetic Testing Registry: Primary autosomal recessive microcephaly 7 - MedlinePlus Encyclopedia: Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal recessive primary microcephaly +What is (are) multiple epiphyseal dysplasia ?,"Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.",GHR,multiple epiphyseal dysplasia +How many people are affected by multiple epiphyseal dysplasia ?,"The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed.",GHR,multiple epiphyseal dysplasia +What are the genetic changes related to multiple epiphyseal dysplasia ?,"Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilage-forming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage and bone formation. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. The majority of individuals with dominant multiple epiphyseal dysplasia have mutations in the COMP gene. About 10 percent of affected individuals have mutations in the MATN3 gene. Mutations in the COMP or MATN3 gene prevent the release of the proteins produced from these genes into the spaces between the chondrocytes. The absence of these proteins leads to the formation of abnormal cartilage, which can cause the skeletal problems characteristic of dominant multiple epiphyseal dysplasia. The COL9A1, COL9A2, and COL9A3 genes provide instructions for making a protein called type IX collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Mutations in the COL9A1, COL9A2, or COL9A3 gene are found in less than five percent of individuals with dominant multiple epiphyseal dysplasia. It is not known how mutations in these genes cause the signs and symptoms of this disorder. Research suggests that mutations in these genes may cause type IX collagen to accumulate inside the cell or interact abnormally with other cartilage components. Some people with dominant multiple epiphyseal dysplasia do not have a mutation in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene. In these cases, the cause of the condition is unknown. Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.",GHR,multiple epiphyseal dysplasia +Is multiple epiphyseal dysplasia inherited ?,"Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Multiple epiphyseal dysplasia can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.",GHR,multiple epiphyseal dysplasia +What are the treatments for multiple epiphyseal dysplasia ?,"These resources address the diagnosis or management of multiple epiphyseal dysplasia: - Cedars-Sinai Medical Center - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Dominant - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Recessive - Genetic Testing Registry: Multiple epiphyseal dysplasia 1 - Genetic Testing Registry: Multiple epiphyseal dysplasia 2 - Genetic Testing Registry: Multiple epiphyseal dysplasia 3 - Genetic Testing Registry: Multiple epiphyseal dysplasia 4 - Genetic Testing Registry: Multiple epiphyseal dysplasia 5 - Genetic Testing Registry: Multiple epiphyseal dysplasia 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,multiple epiphyseal dysplasia +What is (are) congenital sucrase-isomaltase deficiency ?,"Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.",GHR,congenital sucrase-isomaltase deficiency +How many people are affected by congenital sucrase-isomaltase deficiency ?,"The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.",GHR,congenital sucrase-isomaltase deficiency +What are the genetic changes related to congenital sucrase-isomaltase deficiency ?,"Mutations in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine. Mutations that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. These changes prevent the enzyme from breaking down sucrose and maltose, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.",GHR,congenital sucrase-isomaltase deficiency +Is congenital sucrase-isomaltase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital sucrase-isomaltase deficiency +What are the treatments for congenital sucrase-isomaltase deficiency ?,These resources address the diagnosis or management of congenital sucrase-isomaltase deficiency: - Genetic Testing Registry: Sucrase-isomaltase deficiency - MedlinePlus Encyclopedia: Abdominal bloating - MedlinePlus Encyclopedia: Inborn errors of metabolism - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital sucrase-isomaltase deficiency +What is (are) X-linked adrenal hypoplasia congenita ?,"X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications are often life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family.",GHR,X-linked adrenal hypoplasia congenita +How many people are affected by X-linked adrenal hypoplasia congenita ?,"X-linked adrenal hypoplasia congenita is estimated to affect 1 in 12,500 newborns.",GHR,X-linked adrenal hypoplasia congenita +What are the genetic changes related to X-linked adrenal hypoplasia congenita ?,"Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.",GHR,X-linked adrenal hypoplasia congenita +Is X-linked adrenal hypoplasia congenita inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.",GHR,X-linked adrenal hypoplasia congenita +What are the treatments for X-linked adrenal hypoplasia congenita ?,"These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked adrenal hypoplasia congenita +What is (are) osteoglophonic dysplasia ?,"Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia. The craniosynostosis associated with this disorder may give the head a tall appearance, often referred to in the medical literature as a tower-shaped skull, or a relatively mild version of a deformity called a cloverleaf skull. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), a large tongue (macroglossia), a protruding jaw (prognathism), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva). Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals have short, bowed legs and arms and are short in stature. They also have flat feet and short, broad hands and fingers. The life expectancy of people with osteoglophonic dysplasia depends on the extent of their craniofacial abnormalities; those that obstruct the air passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder.",GHR,osteoglophonic dysplasia +How many people are affected by osteoglophonic dysplasia ?,Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. Only about 15 cases have been reported in the medical literature.,GHR,osteoglophonic dysplasia +What are the genetic changes related to osteoglophonic dysplasia ?,"Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors. The growth factors and their receptors are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. In particular, they play a major role in skeletal development. The FGFR1 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. When a fibroblast growth factor binds to the part of the FGFR1 protein outside the cell, the receptor triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions. The FGFR1 protein is thought to play an important role in the development of the nervous system. This protein may also help regulate the growth of long bones, such as the large bones in the arms and legs. FGFR1 gene mutations that cause osteoglophonic dysplasia change single building blocks (amino acids) in the FGFR1 protein. The altered FGFR1 protein appears to cause prolonged signaling, which promotes premature fusion of bones in the skull and disrupts the regulation of bone growth in the arms and legs.",GHR,osteoglophonic dysplasia +Is osteoglophonic dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, some affected individuals inherit the mutation from an affected parent.",GHR,osteoglophonic dysplasia +What are the treatments for osteoglophonic dysplasia ?,These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,osteoglophonic dysplasia +What is (are) hypochondroplasia ?,"Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.",GHR,hypochondroplasia +How many people are affected by hypochondroplasia ?,"The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.",GHR,hypochondroplasia +What are the genetic changes related to hypochondroplasia ?,"About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder. In the absence of a mutation in the FGFR3 gene, the cause of hypochondroplasia is unknown. Researchers suspect that mutations in other genes are involved, although these genes have not been identified.",GHR,hypochondroplasia +Is hypochondroplasia inherited ?,"Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.",GHR,hypochondroplasia +What are the treatments for hypochondroplasia ?,These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypochondroplasia +What is (are) Refsum disease ?,"Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness. Vision loss and anosmia are seen in almost everyone with Refsum disease, but other signs and symptoms vary. About one-third of affected individuals are born with bone abnormalities of the hands and feet. Features that appear later in life can include progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an abnormal heart rhythm (arrhythmia) and related heart problems that can be life-threatening.",GHR,Refsum disease +How many people are affected by Refsum disease ?,"The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon.",GHR,Refsum disease +What are the genetic changes related to Refsum disease ?,"More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. This substance is obtained from the diet, particularly from beef and dairy products. It is normally broken down through a process called alpha-oxidation, which occurs in cell structures called peroxisomes. These sac-like compartments contain enzymes that process many different substances, such as fatty acids and certain toxic compounds. Mutations in either the PHYH or PEX7 gene disrupt the usual functions of peroxisomes, including the breakdown of phytanic acid. As a result, this substance builds up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear how an excess of this substance affects vision and smell and causes the other specific features of Refsum disease.",GHR,Refsum disease +Is Refsum disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Refsum disease +What are the treatments for Refsum disease ?,These resources address the diagnosis or management of Refsum disease: - Gene Review: Gene Review: Refsum Disease - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Phytanic acid storage disease - MedlinePlus Encyclopedia: Retinitis Pigmentosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Refsum disease +What is (are) Noonan syndrome ?,"Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor alignment of the teeth, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck. Approximately 50 to 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually of normal length and weight, but growth slows over time. Abnormal levels of growth hormone may contribute to the slow growth. Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis). Most people with Noonan syndrome have a heart defect. The most common heart defect is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some affected individuals have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. A variety of bleeding disorders have been associated with Noonan syndrome. Some people may have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Women with a bleeding disorder typically have excessive bleeding during menstruation (menorrhagia) or childbirth. Adolescent males with Noonan syndrome typically experience delayed puberty. Affected individuals go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt. Most males with Noonan syndrome have undescended testicles (cryptorchidism), which may be related to delayed puberty or to infertility (inability to father a child) later in life. Females with Noonan syndrome typically have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a small percentage has special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Affected infants may also have feeding problems, which typically get better by age 1 or 2. Older individuals can also develop lymphedema, usually in the ankles and lower legs.",GHR,Noonan syndrome +How many people are affected by Noonan syndrome ?,"Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.",GHR,Noonan syndrome +What are the genetic changes related to Noonan syndrome ?,"Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 percent and RAF1 gene mutations account for 5 to 10 percent of Noonan syndrome cases. About 2 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder. It is not known how many cases are caused by mutations in the BRAF or NRAS genes, but it is likely a very small proportion. The cause of Noonan syndrome in the remaining 20 percent of people with this disorder is unknown. The PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes all provide instructions for making proteins that are important in signaling pathways needed for the proper formation of several types of tissue during development. These proteins also play roles in cell division, cell movement, and cell differentiation (the process by which cells mature to carry out specific functions). Mutations in any of the genes listed above cause the resulting protein to be continuously active, rather than switching on and off in response to cell signals. This constant activation disrupts the regulation of systems that control cell growth and division, leading to the characteristic features of Noonan syndrome.",GHR,Noonan syndrome +Is Noonan syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Noonan syndrome +What are the treatments for Noonan syndrome ?,These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 - Genetic Testing Registry: Noonan syndrome 3 - Genetic Testing Registry: Noonan syndrome 4 - Genetic Testing Registry: Noonan syndrome 5 - Genetic Testing Registry: Noonan syndrome 6 - Genetic Testing Registry: Noonan syndrome 7 - MedlinePlus Encyclopedia: Noonan Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Noonan syndrome +What is (are) Lujan syndrome ?,"Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations. Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia). Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition.",GHR,Lujan syndrome +How many people are affected by Lujan syndrome ?,"Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown.",GHR,Lujan syndrome +What are the genetic changes related to Lujan syndrome ?,"Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the MED12 protein. This genetic change alters the structure, and presumably the function, of the MED12 protein. However, it is unclear how the mutation affects development and leads to the cognitive and physical features of Lujan syndrome.",GHR,Lujan syndrome +Is Lujan syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Lujan syndrome +What are the treatments for Lujan syndrome ?,These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Lujan syndrome +What is (are) Amish lethal microcephaly ?,"Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain. Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly). Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.",GHR,Amish lethal microcephaly +How many people are affected by Amish lethal microcephaly ?,Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population.,GHR,Amish lethal microcephaly +What are the genetic changes related to Amish lethal microcephaly ?,"Mutations in the SLC25A19 gene cause Amish lethal microcephaly. The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development. All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.",GHR,Amish lethal microcephaly +Is Amish lethal microcephaly inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Amish lethal microcephaly +What are the treatments for Amish lethal microcephaly ?,These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Amish lethal microcephaly +What is (are) Shprintzen-Goldberg syndrome ?,"Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward. People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility). People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability. Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions. In addition, heart abnormalities are more common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome.",GHR,Shprintzen-Goldberg syndrome +How many people are affected by Shprintzen-Goldberg syndrome ?,"Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms.",GHR,Shprintzen-Goldberg syndrome +What are the genetic changes related to Shprintzen-Goldberg syndrome ?,"Shprintzen-Goldberg syndrome is often caused by mutations in the SKI gene. This gene provides instructions for making a protein that regulates the transforming growth factor beta (TGF-) signaling pathway. The TGF- pathway regulates many processes, including cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). By attaching to certain proteins in the pathway, the SKI protein blocks TGF- signaling. The SKI protein is found in many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brain. SKI gene mutations involved in Shprintzen-Goldberg syndrome alter the SKI protein. The altered protein is no longer able to attach to proteins in the TGF- pathway and block signaling. As a result, the pathway is abnormally active. Excess TGF- signaling changes the regulation of gene activity and likely disrupts development of many body systems, including the bones and brain, resulting in the wide range of signs and symptoms of Shprintzen-Goldberg syndrome. Not all cases of Shprintzen-Goldberg syndrome are caused by mutations in the SKI gene. Other genes may be involved in this condition, and in some cases, the genetic cause is unknown.",GHR,Shprintzen-Goldberg syndrome +Is Shprintzen-Goldberg syndrome inherited ?,"Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) gene mutations and occurs in people with no history of the disorder in their family. Very rarely, people with Shprintzen-Goldberg syndrome have inherited the altered gene from an unaffected parent who has a gene mutation only in their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism.",GHR,Shprintzen-Goldberg syndrome +What are the treatments for Shprintzen-Goldberg syndrome ?,These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Shprintzen-Goldberg syndrome +What is (are) arrhythmogenic right ventricular cardiomyopathy ?,"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.",GHR,arrhythmogenic right ventricular cardiomyopathy +How many people are affected by arrhythmogenic right ventricular cardiomyopathy ?,"ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms.",GHR,arrhythmogenic right ventricular cardiomyopathy +What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ?,"ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes responsible for ARVC often impair the normal function of desmosomes. Without normal desmosomes, cells of the myocardium detach from one another and die, particularly when the heart muscle is placed under stress (such as during vigorous exercise). These changes primarily affect the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. The damaged myocardium is gradually replaced by fat and scar tissue. As this abnormal tissue builds up, the walls of the right ventricle become stretched out, preventing the heart from pumping blood effectively. These changes also disrupt the electrical signals that control the heartbeat, which can lead to arrhythmia. Gene mutations have been found in 30 to 40 percent of people with ARVC. Mutations in a gene called PKP2 are most common. In people without an identified mutation, the cause of the disorder is unknown. Researchers are looking for additional genetic factors, particularly those involved in the function of desmosomes, that may play a role in causing ARVC.",GHR,arrhythmogenic right ventricular cardiomyopathy +Is arrhythmogenic right ventricular cardiomyopathy inherited ?,"Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,arrhythmogenic right ventricular cardiomyopathy +What are the treatments for arrhythmogenic right ventricular cardiomyopathy ?,"These resources address the diagnosis or management of ARVC: - Brigham and Women's Hospital - Cleveland Clinic: How Are Arrhythmias Treated? - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 1 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 10 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 12 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 2 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 3 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 4 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 5 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 6 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 7 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 8 - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 9 - Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair - St. Luke's-Roosevelt Hospital Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,arrhythmogenic right ventricular cardiomyopathy +What is (are) malignant hyperthermia ?,"Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening. People at increased risk for this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they undergo testing or have a severe reaction to anesthesia during a surgical procedure. While this condition often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease and multiminicore disease) are associated with malignant hyperthermia susceptibility.",GHR,malignant hyperthermia +How many people are affected by malignant hyperthermia ?,"Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction.",GHR,malignant hyperthermia +What are the genetic changes related to malignant hyperthermia ?,"Variations of the CACNA1S and RYR1 genes increase the risk of developing malignant hyperthermia. Researchers have described at least six forms of malignant hyperthermia susceptibility, which are caused by mutations in different genes. Mutations in the RYR1 gene are responsible for a form of the condition known as MHS1. These mutations account for most cases of malignant hyperthermia susceptibility. Another form of the condition, MHS5, results from mutations in the CACNA1S gene. These mutations are less common, causing less than 1 percent of all cases of malignant hyperthermia susceptibility. The RYR1 and CACNA1S genes provide instructions for making proteins that play essential roles in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain charged atoms (ions) into muscle cells. The proteins produced from the RYR1 and CACNA1S genes are involved in the movement of calcium ions within muscle cells. In response to certain signals, the CACNA1S protein helps activate the RYR1 channel, which releases stored calcium ions within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract. Mutations in the RYR1 or CACNA1S gene cause the RYR1 channel to open more easily and close more slowly in response to certain drugs. As a result, large amounts of calcium ions are released from storage within muscle cells. An overabundance of available calcium ions causes skeletal muscles to contract abnormally, which leads to muscle rigidity in people with malignant hyperthermia. An increase in calcium ion concentration within muscle cells also activates processes that generate heat (leading to increased body temperature) and produce excess acid (leading to acidosis). The genetic causes of several other types of malignant hyperthermia (MHS2, MHS4, and MHS6) are still under study. A form of the condition known as MHS3 has been linked to the CACNA2D1 gene. This gene provides instructions for making a protein that plays an essential role in activating the RYR1 channel to release calcium ions into muscle cells. Although this gene is thought to be related to malignant hyperthermia in a few families, no causative mutations have been identified.",GHR,malignant hyperthermia +Is malignant hyperthermia inherited ?,"Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also at risk for the condition.",GHR,malignant hyperthermia +What are the treatments for malignant hyperthermia ?,These resources address the diagnosis or management of malignant hyperthermia: - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 2 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 3 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 4 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 5 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 6 - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,malignant hyperthermia +What is (are) cryptogenic cirrhosis ?,"Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue. In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice). People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).",GHR,cryptogenic cirrhosis +How many people are affected by cryptogenic cirrhosis ?,"Cirrhosis affects more than 600,000 people in the United States; cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases.",GHR,cryptogenic cirrhosis +What are the genetic changes related to cryptogenic cirrhosis ?,"Unlike most cases of cirrhosis, cryptogenic cirrhosis is not caused by the hepatitis C or B virus or chronic alcohol use. A diagnosis of cryptogenic cirrhosis is typically given when all other causes of cirrhosis have been ruled out. When a disorder occurs without an apparent underlying reason, it is described as cryptogenic. Research has shown that many cases of cryptogenic cirrhosis likely result from a condition called non-alcoholic fatty liver disease (NAFLD). In NAFLD, fat accumulates in the liver, impairing its function. If the fat buildup leads to inflammation and damage to liver tissue, NAFLD progresses to a condition called non-alcoholic steatohepatitis (NASH). Long term inflammation in people with NASH can cause the formation of scar tissue and a decrease in fat buildup. As a result, individuals progress from NASH to cirrhosis. Cryptogenic cirrhosis may also develop from autoimmune hepatitis, which is a condition that occurs when the body's immune system malfunctions and attacks the liver, causing inflammation and liver damage. In very rare cases, cryptogenic cirrhosis has been associated with mutations in genes that provide instructions for making certain keratin proteins. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, nails, and similar tissues. People with these keratin gene mutations are more likely to have fibrous deposits in their livers than individuals without the mutations. These deposits impair liver function, leading to cirrhosis. Mutations in these genes have also been found in people with other liver disorders. In many cases, the cause of cryptogenic cirrhosis is unknown. Many people with predisposing conditions do not develop cirrhosis. Researchers are working to discover the causes of cryptogenic cirrhosis as well as to find out why some people seem to be protected from developing cirrhosis and others seem to be susceptible.",GHR,cryptogenic cirrhosis +Is cryptogenic cirrhosis inherited ?,"Most cases of cryptogenic cirrhosis are not inherited. However, people with a family history of liver disease or autoimmune disease are at an increased risk of developing these diseases themselves, and possibly cirrhosis. In individuals with an associated keratin gene mutation, the risk of developing cryptogenic cirrhosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing cryptogenic cirrhosis. In these families, people inherit an increased risk of cryptogenic cirrhosis, not the disease itself.",GHR,cryptogenic cirrhosis +What are the treatments for cryptogenic cirrhosis ?,"These resources address the diagnosis or management of cryptogenic cirrhosis: - Children's Hospital of Pittsburgh: Cirrhosis - Cleveland Clinic: Cirrhosis of the Liver - Genetic Testing Registry: Cirrhosis, cryptogenic - Genetic Testing Registry: Familial cirrhosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cryptogenic cirrhosis +What is (are) Glanzmann thrombasthenia ?,"Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis). The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.",GHR,Glanzmann thrombasthenia +How many people are affected by Glanzmann thrombasthenia ?,"Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community.",GHR,Glanzmann thrombasthenia +What are the genetic changes related to Glanzmann thrombasthenia ?,"Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding. Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin. Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown.",GHR,Glanzmann thrombasthenia +Is Glanzmann thrombasthenia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Glanzmann thrombasthenia +What are the treatments for Glanzmann thrombasthenia ?,These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Glanzmann thrombasthenia +What is (are) galactosialidosis ?,"Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly). Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as ""coarse."" Some infants have an enlarged heart (cardiomegaly); an eye abnormality called a cherry-red spot, which can be identified with an eye examination; and kidney disease that can progress to kidney failure. Infants with this form usually are diagnosed between birth and 3 months; they typically live into late infancy. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and ""coarse"" facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms within the first year of life. The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different than those of the other two types. This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, ""coarse"" facial features, a cherry-red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. This form is typically associated with a normal life expectancy.",GHR,galactosialidosis +How many people are affected by galactosialidosis ?,The prevalence of galactosialidosis is unknown; more than 100 cases have been reported. Approximately 60 percent of people with galactosialidosis have the juvenile/adult form. Most people with this type of the condition are of Japanese descent.,GHR,galactosialidosis +What are the genetic changes related to galactosialidosis ?,"Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.",GHR,galactosialidosis +Is galactosialidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,galactosialidosis +What are the treatments for galactosialidosis ?,These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetalis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,galactosialidosis +What is (are) glycogen storage disease type VII ?,"Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.",GHR,glycogen storage disease type VII +How many people are affected by glycogen storage disease type VII ?,GSDVII is thought to be a rare condition; more than 100 cases have been described in the scientific literature.,GHR,glycogen storage disease type VII +What are the genetic changes related to glycogen storage disease type VII ?,"Mutations in the PFKM gene cause GSDVII. This gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase, which plays a role in the breakdown of glycogen. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues. Different combinations of subunits are found in different tissues. In muscles used for movement (skeletal muscles), the phosphofructokinase enzyme is composed solely of PFKM subunits. In skeletal muscle, the cells' main source of energy is stored as glycogen. Glycogen can be broken down rapidly into the simple sugar glucose when energy is needed, for instance to maintain normal blood sugar levels between meals or for energy during exercise. Phosphofructokinase is involved in the sequence of events that breaks down glycogen to provide energy to muscle cells. PFKM gene mutations result in the production of PFKM subunits that have little or no function. As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be completely broken down. Partially broken down glycogen then builds up in muscle cells. Muscles that do not have access to glycogen as an energy source become weakened and cramped following moderate strain, such as exercise, and in some cases, begin to break down. In other tissues, other subunits that make up the phosphofructokinase enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function. This compensation may help explain why other tissues are not affected by PFKM gene mutations. It is unclear why some individuals with GSDVII are affected with more severe forms of the disorder than others.",GHR,glycogen storage disease type VII +Is glycogen storage disease type VII inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type VII +What are the treatments for glycogen storage disease type VII ?,"These resources address the diagnosis or management of glycogen storage disease type VII: - Genetic Testing Registry: Glycogen storage disease, type VII - The Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type VII +What is (are) tyrosine hydroxylase deficiency ?,"Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe. The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. The movement difficulties may slowly increase with age but almost always get better with medical treatment. The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. These forms of the disorder appear soon after birth and are more difficult to treat effectively. Babies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. They may have stiff muscles, especially in the arms and legs; unusual body positioning; droopy eyelids (ptosis); and involuntary upward-rolling eye movements. The autonomic nervous system, which controls involuntary body functions, may also be affected. Resulting signs and symptoms can include constipation, backflow of stomach acids into the esophagus (gastroesophageal reflux), and difficulty regulating blood sugar, body temperature, and blood pressure. People with the infantile parkinsonism form of the disorder may have intellectual disability, speech problems, attention deficit disorder, and psychiatric conditions such as depression, anxiety, or obsessive-compulsive behaviors. Progressive infantile encephalopathy is an uncommon severe form of TH deficiency. It is characterized by brain dysfunction and structural abnormalities leading to profound physical and intellectual disability.",GHR,tyrosine hydroxylase deficiency +How many people are affected by tyrosine hydroxylase deficiency ?,The prevalence of TH deficiency is unknown.,GHR,tyrosine hydroxylase deficiency +What are the genetic changes related to tyrosine hydroxylase deficiency ?,"Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyrosine hydroxylase helps convert the protein building block (amino acid) tyrosine to a catecholamine called dopamine. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Other catecholamines called norepinephrine and epinephrine are produced from dopamine. Norepinephrine and epinephrine are involved in the autonomic nervous system. Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. These catecholamines are necessary for normal nervous system function, and changes in their levels contribute to the abnormal movements, autonomic dysfunction, and other neurological problems seen in people with TH deficiency.",GHR,tyrosine hydroxylase deficiency +Is tyrosine hydroxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,tyrosine hydroxylase deficiency +What are the treatments for tyrosine hydroxylase deficiency ?,"These resources address the diagnosis or management of TH deficiency: - Gene Review: Gene Review: Tyrosine Hydroxylase Deficiency - Genetic Testing Registry: Segawa syndrome, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,tyrosine hydroxylase deficiency +What is (are) familial lipoprotein lipase deficiency ?,"Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The first symptom of this condition is usually abdominal pain, which can vary from mild to severe. The abdominal pain is often due to inflammation of the pancreas (pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening. Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate. Approximately half of individuals with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but individual xanthomas can cluster together to form larger patches. They are generally not painful unless exposed to repeated friction or abrasion. Eruptive xanthomas begin to appear when fat intake increases and levels rise; the deposits disappear when fat intake slows and levels decrease. The blood of people with familial lipoprotein lipase deficiency can have a milky appearance due to its high fat content. When fat levels get very high in people with this condition, fats can accumulate in blood vessels in the tissue that lines the back of the eye (the retina). The fat buildup gives this tissue a pale pink appearance when examined (lipemia retinalis). This fat accumulation does not affect vision and will disappear once fats from the diet are reduced and levels in the body decrease. In people with familial lipoprotein lipase deficiency, increased fat levels can also cause neurological features, such as depression, memory loss, and mild intellectual decline (dementia). These problems are remedied when dietary fat levels normalize.",GHR,familial lipoprotein lipase deficiency +How many people are affected by familial lipoprotein lipase deficiency ?,"This condition affects about 1 per million people worldwide. It is much more common in certain areas of the province of Quebec, Canada.",GHR,familial lipoprotein lipase deficiency +What are the genetic changes related to familial lipoprotein lipase deficiency ?,"Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins. Mutations that cause familial lipoprotein lipase deficiency lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and tissues, leading to the signs and symptoms of familial lipoprotein lipase deficiency.",GHR,familial lipoprotein lipase deficiency +Is familial lipoprotein lipase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Researchers speculate that if family members of affected individuals have a mutation in one copy of the LPL gene in each cell, they may have a mild increase in fat levels in the blood, which could increase their risk of health problems such as heart disease or diabetes. However, studies have not clearly demonstrated whether these individuals are more prone to develop these health problems than individuals in the general population.",GHR,familial lipoprotein lipase deficiency +What are the treatments for familial lipoprotein lipase deficiency ?,"These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipoprotein Lipase Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial lipoprotein lipase deficiency +What is (are) Unverricht-Lundborg disease ?,"Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Affected individuals also usually have seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Eventually people with Unverricht-Lundborg disease may develop problems with balance and coordination (ataxia), involuntary rhythmic shaking that worsens during movement (intentional tremor), difficulty speaking (dysarthria), depression, and a slow, mild decline in intellectual functioning. People with Unverricht-Lundborg disease typically live into adulthood. Depending on the severity of the condition and a person's response to treatment, life expectancy may be normal.",GHR,Unverricht-Lundborg disease +How many people are affected by Unverricht-Lundborg disease ?,"Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected.",GHR,Unverricht-Lundborg disease +What are the genetic changes related to Unverricht-Lundborg disease ?,"Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materials). While the specific function of cystatin B is unclear, it may help protect the cells' proteins from cathepsins that leak out of the lysosomes. In almost all affected individuals, Unverricht-Lundborg disease is caused by an increase in size of the CSTB gene. One region of the CSTB gene has a particular repeating sequence of 12 DNA building blocks (nucleotides). This sequence is normally repeated two or three times within the gene and is called a dodecamer repeat. Most people with this disorder have more than 30 repeats of the dodecamer sequence in both copies of the CSTB gene. A small number of people with Unverricht-Lundborg disease carry other mutations. The increased number of dodecamer repeats in the CSTB gene seems to interfere with the production of the cystatin B protein. Levels of cystatin B in affected individuals are only 5 to 10 percent of normal, and cathepsin levels are significantly increased. These changes are believed to cause the signs and symptoms of Unverricht-Lundborg disease, but it is unclear how a reduction in the amount of cystatin B leads to the features of this disorder.",GHR,Unverricht-Lundborg disease +Is Unverricht-Lundborg disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Unverricht-Lundborg disease +What are the treatments for Unverricht-Lundborg disease ?,These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Unverricht-Lundborg disease +What is (are) abdominal wall defect ?,"An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) and they may be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often associated with omphalocele because the abdominal organs normally provide a framework for chest wall growth. When those organs are misplaced, the chest wall does not form properly, providing a smaller than normal space for the lungs to develop. As a result, many infants with omphalocele have respiratory insufficiency and may need to be supported with a machine to help them breathe (mechanical ventilation). Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life. Affected infants often have gastrointestinal problems including a backflow of stomach acids into the esophagus (gastroesophageal reflux) and feeding difficulty; these problems can persist even after treatment of omphalocele. Large omphaloceles or those associated with multiple additional health problems are more often associated with fetal death than cases in which omphalocele occurs alone (isolated). Omphalocele is a feature of many genetic syndromes. Nearly half of individuals with omphalocele have a condition caused by an extra copy of one of the chromosomes in each of their cells (trisomy). Up to one-third of people born with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome. Affected individuals may have additional signs and symptoms associated with these genetic conditions. Individuals who have gastroschisis rarely have other birth defects and seldom have chromosome abnormalities or a genetic condition. Most affected individuals experience intrauterine growth retardation and are small at birth; many affected infants are born prematurely. With gastroschisis, the protruding organs are not covered by a protective membrane and are susceptible to damage due to direct contact with amniotic fluid in the womb. Components of the amniotic fluid may trigger immune responses and inflammatory reactions against the intestines that can damage the tissue. Constriction around exposed organs at the abdominal wall opening late in fetal development may also contribute to organ injury. Intestinal damage causes impairment of the muscle contractions that move food through the digestive tract (peristalsis) in most children with gastroschisis. In these individuals, peristalsis usually improves in a few months and intestinal muscle contractions normalize. Rarely, children with gastroschisis have a narrowing or absence of a portion of intestine (intestinal atresia) or twisting of the intestine. After birth, these intestinal malformations can lead to problems with digestive function, further loss of intestinal tissue, and a condition called short bowel syndrome that occurs when areas of the small intestine are missing, causing dehydration and poor absorption of nutrients. Depending on the severity of the condition, intravenous feedings (parenteral nutrition) may be required. The health of an individual with gastroschisis depends largely on how damaged his or her intestine was before birth. When the abdominal wall defect is repaired and normal intestinal function is recovered, the vast majority of affected individuals have no health problems related to the repaired defect later in life.",GHR,abdominal wall defect +How many people are affected by abdominal wall defect ?,"Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do not survive to term (miscarriages and stillbirths).",GHR,abdominal wall defect +What are the genetic changes related to abdominal wall defect ?,"No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During the formation of the abdominal cavity in the sixth to tenth weeks of fetal development, the intestines normally protrude into the umbilical cord but recede back into the abdomen as development continues. Omphalocele occurs when the intestines do not recede back into the abdomen, but remain in the umbilical cord. Other abdominal organs can also protrude through this opening, resulting in the varied organ involvement that occurs in omphalocele. The error that leads to gastroschisis formation is unknown. It is thought to be either a disruption in the blood flow to the digestive tract or a lack of development or injury to gastrointestinal tissue early in fetal development. For reasons that are unknown, women under the age of 20 are at the greatest risk of having a baby with gastroschisis. Other risk factors in pregnancy may include taking medications that constrict the blood vessels (called vasoconstrictive drugs) or smoking, although these risk factors have not been confirmed.",GHR,abdominal wall defect +Is abdominal wall defect inherited ?,"Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a genetic condition, it is inherited in the pattern of that condition.",GHR,abdominal wall defect +What are the treatments for abdominal wall defect ?,"These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocele - Great Ormond Street Hospital for Children (UK): Gastroschisis - MedlinePlus Encyclopedia: Gastroschisis Repair - MedlinePlus Encyclopedia: Gastroschisis Repair--Series (images) - MedlinePlus Encyclopedia: Omphalocele Repair - MedlinePlus Encyclopedia: Omphalocele Repair--Series (images) - Seattle Children's Hospital: Gastroschisis Treatment Options - Seattle Children's Hospital: Omphalocele Treatment Options - The Children's Hospital of Philadelphia: Diagnosis and Treatment of Gastroschisis - The Children's Hospital of Philadelphia: Overview and Treatment of Omphalocele - University of California, San Francisco Fetal Treatment Center: Gastroschisis - University of California, San Francisco Fetal Treatment Center: Omphalocele These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,abdominal wall defect +What is (are) sialuria ?,"Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat flat face and distinctive-looking facial features that are described as ""coarse."" Temporarily delayed development and weak muscle tone (hypotonia) have also been reported. Young children with sialuria tend to have frequent upper respiratory infections and episodes of dehydration and stomach upset (gastroenteritis). Older children may have seizures and learning difficulties. In some affected children, intellectual development is nearly normal. The features of sialuria vary widely among affected people. Many of the problems associated with this disorder appear to improve with age, although little is known about the long-term effects of the disease. It is likely that some adults with sialuria never come to medical attention because they have very mild signs and symptoms or no health problems related to the condition.",GHR,sialuria +How many people are affected by sialuria ?,"Fewer than 10 people worldwide have been diagnosed with sialuria. There are probably more people with the disorder who have not been diagnosed, as sialuria can be difficult to detect because of its variable features.",GHR,sialuria +What are the genetic changes related to sialuria ?,"Mutations in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attachment of cells to one another (adhesion), signaling between cells, and inflammation. The enzyme produced from the GNE gene is carefully controlled to ensure that cells produce an appropriate amount of sialic acid. A feedback system shuts off the enzyme when no more sialic acid is needed. The mutations responsible for sialuria disrupt this feedback mechanism, resulting in an overproduction of sialic acid. This simple sugar builds up within cells and is excreted in urine. Researchers are working to determine how an accumulation of sialic acid in the body interferes with normal development in people with sialuria.",GHR,sialuria +Is sialuria inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most reported cases have occurred in people with no known history of the disorder in their family and may result from new mutations in the gene.",GHR,sialuria +What are the treatments for sialuria ?,These resources address the diagnosis or management of sialuria: - Gene Review: Gene Review: Sialuria - Genetic Testing Registry: Sialuria - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Newborn Jaundice These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,sialuria +What is (are) genitopatellar syndrome ?,"Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. Affected females can have an enlarged clitoris (clitoromegaly) and small labia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including joint deformities (contractures) involving the hips and knees or an inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis have also been reported. Genitopatellar syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum). People with genitopatellar syndrome may have distinctive facial features such as prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an unusually small chin (micrognathia) or a chin that protrudes (prognathism), and a narrowing of the head at the temples. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The condition can also be associated with abnormalities of the heart, kidneys, and teeth.",GHR,genitopatellar syndrome +How many people are affected by genitopatellar syndrome ?,Genitopatellar syndrome is estimated to occur in fewer than 1 per million people. At least 18 cases have been reported in the medical literature.,GHR,genitopatellar syndrome +What are the genetic changes related to genitopatellar syndrome ?,"Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. The mutations that cause genitopatellar syndrome occur near the end of the KAT6B gene and lead to the production of a shortened histone acetyltransferase enzyme. Researchers suspect that the shortened enzyme may function differently than the full-length version, altering the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of genitopatellar syndrome.",GHR,genitopatellar syndrome +Is genitopatellar syndrome inherited ?,"This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.",GHR,genitopatellar syndrome +What are the treatments for genitopatellar syndrome ?,These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,genitopatellar syndrome +What is (are) amelogenesis imperfecta ?,"Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth. Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.",GHR,amelogenesis imperfecta +How many people are affected by amelogenesis imperfecta ?,"The exact incidence of amelogenesis imperfecta is uncertain. Estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States.",GHR,amelogenesis imperfecta +What are the genetic changes related to amelogenesis imperfecta ?,"Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. Most of these proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Although the function of the protein produced from the FAM83H gene is unknown, it is also believed to be involved in the formation of enamel. Mutations in any of these genes result in altered protein structure or prevent the production of any protein. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. Mutations in the genes described above account for only about half of all cases of the condition, with FAM83H gene mutations causing the majority of these cases. In the remaining cases, the genetic cause has not been identified. Researchers are working to find mutations in other genes that are involved in this disorder.",GHR,amelogenesis imperfecta +Is amelogenesis imperfecta inherited ?,"Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases caused by mutations in the ENAM gene also have an autosomal dominant inheritance pattern. Amelogenesis imperfecta can also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family.",GHR,amelogenesis imperfecta +What are the treatments for amelogenesis imperfecta ?,"These resources address the diagnosis or management of amelogenesis imperfecta: - Genetic Testing Registry: Amelogenesis imperfecta - hypoplastic autosomal dominant - local - Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type - Genetic Testing Registry: Amelogenesis imperfecta, type 1E - Genetic Testing Registry: Amelogenesis imperfecta, type IC - MedlinePlus Encyclopedia: Amelogenesis imperfecta - MedlinePlus Encyclopedia: Tooth - Abnormal Colors These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,amelogenesis imperfecta +What is (are) progressive supranuclear palsy ?,"Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade. Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance. Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze. Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.",GHR,progressive supranuclear palsy +How many people are affected by progressive supranuclear palsy ?,"The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide.",GHR,progressive supranuclear palsy +What are the genetic changes related to progressive supranuclear palsy ?,"In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. The signs and symptoms of progressive supranuclear palsy appear to be related to abnormalities in the tau protein. In people with MAPT gene mutations, genetic changes disrupt the protein's normal structure and function. However, abnormal tau is also found in affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other brain cells, although it is unclear what effect these clumps have on cell function and survival. Progressive supranuclear palsy is characterized by the gradual death of brain cells, particularly in structures deep within the brain that are essential for coordinating movement. This loss of brain cells underlies the movement abnormalities and other features of progressive supranuclear palsy. This condition is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain. Researchers suspect that other genetic and environmental factors also contribute to progressive supranuclear palsy. For example, the disease has been linked to genetic changes on chromosome 1 and chromosome 11. However, the specific genes involved have not been identified.",GHR,progressive supranuclear palsy +Is progressive supranuclear palsy inherited ?,"Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive supranuclear palsy runs in families, it can have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder.",GHR,progressive supranuclear palsy +What are the treatments for progressive supranuclear palsy ?,"These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive Supranuclear Palsy - Partners in Parkinson's: Movement Disorder Specialist Finder - University of California, San Francisco (UCSF) Memory and Aging Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,progressive supranuclear palsy +What is (are) ichthyosis with confetti ?,"Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time. In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.",GHR,ichthyosis with confetti +How many people are affected by ichthyosis with confetti ?,Ichthyosis with confetti is a rare disorder. Fewer than 20 affected individuals have been described in the medical literature.,GHR,ichthyosis with confetti +What are the genetic changes related to ichthyosis with confetti ?,"Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin. KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.",GHR,ichthyosis with confetti +Is ichthyosis with confetti inherited ?,"Ichthyosis with confetti is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Usually, the condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation). In these cases, the affected individuals have no history of the disorder in their family. In some cases, an affected person inherits the mutation from one affected parent.",GHR,ichthyosis with confetti +What are the treatments for ichthyosis with confetti ?,These resources address the diagnosis or management of ichthyosis with confetti: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ichthyosis with confetti +What is (are) Emery-Dreifuss muscular dystrophy ?,"Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. Almost all people with Emery-Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death. The types of Emery-Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery-Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.",GHR,Emery-Dreifuss muscular dystrophy +How many people are affected by Emery-Dreifuss muscular dystrophy ?,"X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown.",GHR,Emery-Dreifuss muscular dystrophy +What are the genetic changes related to Emery-Dreifuss muscular dystrophy ?,"Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular dystrophy. The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes. Most cases of Emery-Dreifuss muscular dystrophy are caused by mutations in the EMD gene. This gene provides instructions for making a protein called emerin, which appears to be essential for the normal function of skeletal and cardiac muscle. Most EMD gene mutations prevent the production of any functional emerin. It remains unclear how a lack of this protein results in the signs and symptoms of Emery-Dreifuss muscular dystrophy. Less commonly, Emery-Dreifuss muscular dystrophy results from mutations in the LMNA gene. This gene provides instructions for making two very similar proteins, lamin A and lamin C. Most of the LMNA mutations that cause this condition result in the production of an altered version of these proteins. Researchers are investigating how the altered versions of lamins A and C lead to muscle wasting and heart problems in people with Emery-Dreifuss muscular dystrophy.",GHR,Emery-Dreifuss muscular dystrophy +Is Emery-Dreifuss muscular dystrophy inherited ?,"Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In females (who have two X chromosomes), a mutation typically must be present in both copies of the EMD gene to cause X-linked Emery-Dreifuss muscular dystrophy. Females who carry one altered copy of the EMD gene usually do not experience the muscle weakness and wasting that are characteristic of this condition. In some cases, however, they may experience heart problems associated with this disorder. Other cases of Emery-Dreifuss muscular dystrophy result from mutations in the LMNA gene and are considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. About 75 percent of autosomal dominant Emery-Dreifuss muscular dystrophy cases are caused by new mutations in the LMNA gene and occur in people with no history of the disorder in their family. In the remaining cases, people with this form of the condition inherit the altered LMNA gene from an affected parent. Rarely, LMNA gene mutations can cause a form of Emery-Dreifuss muscular dystrophy that is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.",GHR,Emery-Dreifuss muscular dystrophy +What are the treatments for Emery-Dreifuss muscular dystrophy ?,"These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Emery-Dreifuss muscular dystrophy +What is (are) preeclampsia ?,"Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant. Many women with mild preeclampsia do not feel ill, and the problem is first detected through blood pressure and urine testing in their doctor's office. Other early features of the disorder are swelling (edema) of the face or hands and a weight gain of more than 2 pounds within a few days. More severely affected women may experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, nausea, or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness. In most cases, preeclampsia is mild and goes away within a few weeks after the baby is born. In severe cases, however, preeclampsia can impact the mother's organs such as the heart, liver, and kidneys and can lead to life-threatening complications. Extreme hypertension in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have progressed to eclampsia, which can result in coma. Without treatment to help prevent seizures, about 1 in 200 women with preeclampsia develop eclampsia. Between 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cell fragments involved in blood clotting), which are the key features of this condition. Severe preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs. Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest this may be due to common factors that increase the risk of preeclampsia, heart disease, and stroke.",GHR,preeclampsia +How many people are affected by preeclampsia ?,"Preeclampsia is a common condition in all populations, occurring in 2 to 8 percent of pregnancies. It occurs more frequently in women of African or Hispanic descent than it does in women of European descent.",GHR,preeclampsia +What are the genetic changes related to preeclampsia ?,"The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia. The reasons for these abnormal reactions to the changes of pregnancy vary in different women and may differ depending on the stage of the pregnancy at which the condition develops. Studies suggest that preeclampsia is related to a problem with the placenta, the link between the mother's blood supply and the fetus. If there is an insufficient connection between the placenta and the arteries of the uterus, the placenta does not get enough blood. It responds by releasing a variety of substances, including molecules that affect the lining of blood vessels (the vascular endothelium). By mechanisms that are unclear, the reaction of the vascular endothelium appears to increase factors that cause the blood vessels to narrow (constrict), and decrease factors that would cause them to widen (dilate). As a result, the blood vessels constrict abnormally, causing hypertension. These blood vessel abnormalities also affect the kidneys, causing some proteins that are normally absorbed into the blood to be released in the urine instead. Researchers are studying whether variations in genes involved in fluid balance, the functioning of the vascular endothelium, or placental development affect the risk of developing preeclampsia. Many other factors likely also contribute to the risk of developing this complex disorder. These risk factors include a first pregnancy; a pregnancy with twins or higher multiples; obesity; being older than 35 or younger than 20; a history of diabetes, hypertension, or kidney disease; and preeclampsia in a previous pregnancy. Socioeconomic status and ethnicity have also been associated with preeclampsia risk. The incidence of preeclampsia in the United States has increased by 30 percent in recent years, which has been attributed in part to an increase in older mothers and multiple births resulting from the use of assisted reproductive technologies.",GHR,preeclampsia +Is preeclampsia inherited ?,"Most cases of preeclampsia do not seem to be inherited. The tendency to develop preeclampsia does seem to run in some families; however, the inheritance pattern is unknown.",GHR,preeclampsia +What are the treatments for preeclampsia ?,"These resources address the diagnosis or management of preeclampsia: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP syndrome? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are the Treatments for Preeclampsia, Eclampsia, and HELLP Syndrome? - Genetic Testing Registry: Preeclampsia/eclampsia 1 - Genetic Testing Registry: Preeclampsia/eclampsia 2 - Genetic Testing Registry: Preeclampsia/eclampsia 3 - Genetic Testing Registry: Preeclampsia/eclampsia 4 - Genetic Testing Registry: Preeclampsia/eclampsia 5 - MedlinePlus Encyclopedia: Preeclampsia Self-care These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,preeclampsia +What is (are) phosphoglycerate mutase deficiency ?,"Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.",GHR,phosphoglycerate mutase deficiency +How many people are affected by phosphoglycerate mutase deficiency ?,Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American.,GHR,phosphoglycerate mutase deficiency +What are the genetic changes related to phosphoglycerate mutase deficiency ?,"Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.",GHR,phosphoglycerate mutase deficiency +Is phosphoglycerate mutase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, people who carry one altered copy of the PGAM2 gene may have some features of phosphoglycerate mutase deficiency, including episodes of exercise-induced muscle cramping and myoglobinuria.",GHR,phosphoglycerate mutase deficiency +What are the treatments for phosphoglycerate mutase deficiency ?,These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,phosphoglycerate mutase deficiency +What is (are) hypomyelination and congenital cataract ?,"Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes. People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.",GHR,hypomyelination and congenital cataract +How many people are affected by hypomyelination and congenital cataract ?,The prevalence of hypomyelination and congenital cataract is unknown.,GHR,hypomyelination and congenital cataract +What are the genetic changes related to hypomyelination and congenital cataract ?,"Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how mutations in the FAM126A gene cause cataracts. Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition. People who have mutations that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.",GHR,hypomyelination and congenital cataract +Is hypomyelination and congenital cataract inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hypomyelination and congenital cataract +What are the treatments for hypomyelination and congenital cataract ?,These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypomyelination and congenital cataract +What is (are) familial acute myeloid leukemia with mutated CEBPA ?,"Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets. People with familial acute myeloid leukemia with mutated CEBPA have a shortage of white blood cells (leukopenia), leading to increased susceptibility to infections. A low number of red blood cells (anemia) also occurs in this disorder, resulting in fatigue and weakness. Affected individuals also have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. Other symptoms of familial acute myeloid leukemia with mutated CEBPA may include fever and weight loss. While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, people with familial acute myeloid leukemia with mutated CEBPA have a higher risk of having a new primary occurrence of this disorder after successful treatment of the initial occurrence.",GHR,familial acute myeloid leukemia with mutated CEBPA +How many people are affected by familial acute myeloid leukemia with mutated CEBPA ?,"Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form of acute myeloid leukemia; only a few affected families have been identified.",GHR,familial acute myeloid leukemia with mutated CEBPA +What are the genetic changes related to familial acute myeloid leukemia with mutated CEBPA ?,"As its name suggests, familial acute myeloid leukemia with mutated CEBPA is caused by mutations in the CEBPA gene that are passed down within families. These inherited mutations are present throughout a person's life in virtually every cell in the body. The CEBPA gene provides instructions for making a protein called CCAAT/enhancer-binding protein alpha. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. It is believed to act as a tumor suppressor, helping to prevent cells from growing and dividing too rapidly or in an uncontrolled way. CEBPA gene mutations that cause familial acute myeloid leukemia with mutated CEBPA result in a shorter version of CCAAT/enhancer-binding protein alpha. This shorter version is produced from one copy of the CEBPA gene in each cell, and it is believed to interfere with the tumor suppressor function of the normal protein produced from the second copy of the gene. Absence of the tumor suppressor function of CCAAT/enhancer-binding protein alpha is believed to disrupt the regulation of blood cell production in the bone marrow, leading to the uncontrolled production of abnormal cells that occurs in acute myeloid leukemia. In addition to the inherited mutation in one copy of the CEBPA gene in each cell, most individuals with familial acute myeloid leukemia with mutated CEBPA also acquire a mutation in the second copy of the CEBPA gene. The additional mutation, which is called a somatic mutation, is found only in the leukemia cells and is not inherited. The somatic CEBPA gene mutations identified in leukemia cells generally decrease the DNA-binding ability of CCAAT/enhancer-binding protein alpha. The effect of this second mutation on the development of acute myeloid leukemia is unclear.",GHR,familial acute myeloid leukemia with mutated CEBPA +Is familial acute myeloid leukemia with mutated CEBPA inherited ?,"Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. Most affected individuals also acquire a second, somatic CEBPA gene mutation in their leukemia cells.",GHR,familial acute myeloid leukemia with mutated CEBPA +What are the treatments for familial acute myeloid leukemia with mutated CEBPA ?,These resources address the diagnosis or management of familial acute myeloid leukemia with mutated CEBPA: - Fred Hutchison Cancer Research Center - Gene Review: Gene Review: CEBPA-Associated Familial Acute Myeloid Leukemia (AML) - Genetic Testing Registry: Acute myeloid leukemia - MedlinePlus Encyclopedia: Bone Marrow Biopsy - MedlinePlus Encyclopedia: Bone Marrow Transplant - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial acute myeloid leukemia with mutated CEBPA +What is (are) gyrate atrophy of the choroid and retina ?,"Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.",GHR,gyrate atrophy of the choroid and retina +How many people are affected by gyrate atrophy of the choroid and retina ?,More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.,GHR,gyrate atrophy of the choroid and retina +What are the genetic changes related to gyrate atrophy of the choroid and retina ?,"Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which processes excess nitrogen (in the form of ammonia) that is generated when protein is broken down by the body. In addition to its role in the urea cycle, ornithine participates in several reactions that help ensure the proper balance of protein building blocks (amino acids) in the body. This balance is important because a specific sequence of amino acids is required to build each of the many different proteins needed for the body's functions. The ornithine aminotransferase enzyme helps convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino acids glutamate and proline. OAT gene mutations that cause gyrate atrophy result in a reduced amount of functional ornithine aminotransferase enzyme. A shortage of this enzyme impedes the conversion of ornithine into P5C. As a result, excess ornithine accumulates in the blood (hyperornithinemia), and less P5C than normal is produced. It is not clear how these changes result in the specific signs and symptoms of gyrate atrophy. Researchers have suggested that a deficiency of P5C may interfere with the function of the retina. It has also been proposed that excess ornithine may suppress the production of a molecule called creatine. Creatine is needed for many tissues in the body to store and use energy properly. It is involved in providing energy for muscle contraction, and it is also important in nervous system functioning.",GHR,gyrate atrophy of the choroid and retina +Is gyrate atrophy of the choroid and retina inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,gyrate atrophy of the choroid and retina +What are the treatments for gyrate atrophy of the choroid and retina ?,These resources address the diagnosis or management of gyrate atrophy: - Baby's First Test - Genetic Testing Registry: Ornithine aminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,gyrate atrophy of the choroid and retina +What is (are) Melnick-Needles syndrome ?,"Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones. Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss. In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth.",GHR,Melnick-Needles syndrome +How many people are affected by Melnick-Needles syndrome ?,Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.,GHR,Melnick-Needles syndrome +What are the genetic changes related to Melnick-Needles syndrome ?,"Mutations in the FLNA gene cause Melnick-Needles syndrome. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with Melnick-Needles syndrome. These mutations are described as ""gain-of-function"" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.",GHR,Melnick-Needles syndrome +Is Melnick-Needles syndrome inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Melnick-Needles syndrome +What are the treatments for Melnick-Needles syndrome ?,These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Melnick-Needles syndrome +What is (are) Perrault syndrome ?,"Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females. In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time. Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile). Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.",GHR,Perrault syndrome +How many people are affected by Perrault syndrome ?,"Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.",GHR,Perrault syndrome +What are the genetic changes related to Perrault syndrome ?,"Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome. The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome. It is likely that other genes that have not been identified are also involved in this condition.",GHR,Perrault syndrome +Is Perrault syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.",GHR,Perrault syndrome +What are the treatments for Perrault syndrome ?,"These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndrome 4 - Genetic Testing Registry: Perrault syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Perrault syndrome +What is (are) Kleefstra syndrome ?,"Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).",GHR,Kleefstra syndrome +How many people are affected by Kleefstra syndrome ?,The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features.,GHR,Kleefstra syndrome +What are the genetic changes related to Kleefstra syndrome ?,"Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes, which is essential for normal development and function. Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one copy of chromosome 9 in each cell. The deletion occurs near the end of the long (q) arm of the chromosome at a location designated q34.3, a region containing the EHMT1 gene. Some affected individuals have shorter or longer deletions in the same region. The loss of the EHMT1 gene from one copy of chromosome 9 in each cell is believed to be responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3 deletion. However, the loss of other genes in the same region may lead to additional health problems in some affected individuals. About 25 percent of individuals with Kleefstra syndrome do not have a deletion of genetic material from chromosome 9; instead, these individuals have mutations in the EHMT1 gene. Some of these mutations change single protein building blocks (amino acids) in euchromatic histone methyltransferase 1. Others create a premature stop signal in the instructions for making the enzyme or alter the way the gene's instructions are pieced together to produce the enzyme. These changes generally result in an enzyme that is unstable and decays rapidly, or that is disabled and cannot function properly. Either a deletion or a mutation affecting the EHMT1 gene results in a lack of functional euchromatic histone methyltransferase 1 enzyme. A lack of this enzyme impairs proper control of the activity of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kleefstra syndrome.",GHR,Kleefstra syndrome +Is Kleefstra syndrome inherited ?,"The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the disorder on to their children. Only a few people with Kleefstra syndrome have been known to reproduce. Rarely, affected individuals inherit a chromosome 9 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with Kleefstra syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 9. A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion. Mosaic means that an individual has the deletion in some cells (including some sperm or egg cells), but not in others.",GHR,Kleefstra syndrome +What are the treatments for Kleefstra syndrome ?,These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kleefstra syndrome +What is (are) glutamate formiminotransferase deficiency ?,"Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms. People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals affected by the severe form of this disorder have profound intellectual disability and delayed development of motor skills such as sitting, standing, and walking. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. The severe form of glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet.",GHR,glutamate formiminotransferase deficiency +How many people are affected by glutamate formiminotransferase deficiency ?,"Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic backgrounds, are affected by the mild form of the condition.",GHR,glutamate formiminotransferase deficiency +What are the genetic changes related to glutamate formiminotransferase deficiency ?,"Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also plays a role in producing one of several forms of the vitamin folate, which has many important functions in the body. FTCD gene mutations that cause glutamate formiminotransferase deficiency reduce or eliminate the function of the enzyme. It is unclear how these changes are related to the specific health problems associated with the mild and severe forms of glutamate formiminotransferase deficiency, or why individuals are affected by one form or the other.",GHR,glutamate formiminotransferase deficiency +Is glutamate formiminotransferase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glutamate formiminotransferase deficiency +What are the treatments for glutamate formiminotransferase deficiency ?,These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glutamate formiminotransferase deficiency +What is (are) arterial tortuosity syndrome ?,"Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Tortuosity arises from abnormal elongation of the arteries; since the end points of the arteries are fixed, the extra length twists and curves. Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Complications resulting from the abnormal arteries can be life-threatening. Rupture of an aneurysm or sudden tearing (dissection) of the layers in an arterial wall can result in massive loss of blood from the circulatory system. Blockage of blood flow to vital organs such as the heart, lungs, or brain can lead to heart attacks, respiratory problems, and strokes. Stenosis of the arteries forces the heart to work harder to pump blood and may lead to heart failure. As a result of these complications, arterial tortuosity syndrome is often fatal in childhood, although some individuals with mild cases of the disorder live into adulthood. Features of arterial tortuosity syndrome outside the circulatory system are caused by abnormal connective tissue in other parts of the body. These features include joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures), and unusually soft and stretchable skin. Some affected individuals have long, slender fingers and toes (arachnodactyly); curvature of the spine (scoliosis); or a chest that is either sunken (pectus excavatum) or protruding (pectus carinatum). They may have protrusion of organs through gaps in muscles (hernias), elongation of the intestines, or pouches called diverticula in the intestinal walls. People with arterial tortuosity syndrome often look older than their age and have distinctive facial features including a long, narrow face with droopy cheeks; eye openings that are narrowed (blepharophimosis) with outside corners that point downward (downslanting palpebral fissures); a beaked nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw (micrognathia); and large ears. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus).",GHR,arterial tortuosity syndrome +How many people are affected by arterial tortuosity syndrome ?,Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature.,GHR,arterial tortuosity syndrome +What are the genetic changes related to arterial tortuosity syndrome ?,"Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-) signaling pathway. This pathway is involved in cell growth and division (proliferation) and the process by which cells mature to carry out special functions (differentiation). The TGF- signaling pathway is also involved in bone and blood vessel development and the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells and defines the structure and properties of connective tissues. SLC2A10 gene mutations that cause arterial tortuosity syndrome reduce or eliminate GLUT10 function. By mechanisms that are not well understood, a lack (deficiency) of functional GLUT10 protein leads to overactivity (upregulation) of TGF- signaling. Excessive growth signaling results in elongation of the arteries, leading to tortuosity. Overactive TGF- signaling also interferes with normal formation of the connective tissues in other parts of the body, leading to the additional signs and symptoms of arterial tortuosity syndrome.",GHR,arterial tortuosity syndrome +Is arterial tortuosity syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,arterial tortuosity syndrome +What are the treatments for arterial tortuosity syndrome ?,"These resources address the diagnosis or management of arterial tortuosity syndrome: - Gene Review: Gene Review: Arterial Tortuosity Syndrome - Genetic Testing Registry: Arterial tortuosity syndrome - Johns Hopkins McKusick-Nathans Institute of Genetic Medicine - National Heart, Lung, and Blood Institute: How is an Aneurysm Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,arterial tortuosity syndrome +What is (are) hepatic lipase deficiency ?,"Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large. Normally, high levels of HDL (known as ""good cholesterol"") and low levels of LDL (known as ""bad cholesterol"") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.",GHR,hepatic lipase deficiency +How many people are affected by hepatic lipase deficiency ?,Hepatic lipase deficiency is likely a rare disorder; only a few affected families have been reported in the scientific literature.,GHR,hepatic lipase deficiency +What are the genetic changes related to hepatic lipase deficiency ?,"Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. The enzyme also assists in transporting HDLs that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.",GHR,hepatic lipase deficiency +Is hepatic lipase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hepatic lipase deficiency +What are the treatments for hepatic lipase deficiency ?,These resources address the diagnosis or management of hepatic lipase deficiency: - Genetic Testing Registry: Hepatic lipase deficiency - MedlinePlus Encyclopedia: Cholesterol Testing and Results - MedlinePlus Encyclopedia: Triglyceride Level These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hepatic lipase deficiency +What is (are) anencephaly ?,"Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed. Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.",GHR,anencephaly +How many people are affected by anencephaly ?,"Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly.",GHR,anencephaly +What are the genetic changes related to anencephaly ?,"Anencephaly is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with anencephaly and in their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for anencephaly. However, none of these genes appears to play a major role in causing the condition. Researchers have also examined environmental factors that could contribute to the risk of anencephaly. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with a neural tube defect, including anencephaly. Other possible maternal risk factors for anencephaly include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of anencephaly.",GHR,anencephaly +Is anencephaly inherited ?,"Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of having another affected child is increased compared with the risk in the general population.",GHR,anencephaly +What are the treatments for anencephaly ?,"These resources address the diagnosis or management of anencephaly: - Children's Hospital of Philadelphia - Genetic Testing Registry: Anencephalus - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,anencephaly +What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,"Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. Most affected individuals begin to develop movement problems during childhood or adolescence. However, in some individuals, these problems do not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the position of their limbs or vibrations with their limbs. These movement and sensation problems affect the legs more than the arms, making walking difficult. Most affected individuals eventually require wheelchair assistance, sometimes as early as their teens, although the age varies. People with LBSL can have other signs and symptoms of the condition. Some affected individuals develop recurrent seizures (epilepsy), speech difficulties (dysarthria), learning problems, or mild deterioration of mental functioning. Some people with this disorder are particularly vulnerable to severe complications following minor head trauma, which may trigger a loss of consciousness, other reversible neurological problems, or fever. Distinct changes in the brains of people with LBSL can be seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter of the brain and specific regions (called tracts) within the brain stem and spinal cord, especially the pyramidal tract and the dorsal column. In addition, most affected individuals have a high level of a substance called lactate in the white matter of the brain, which is identified using another test called magnetic resonance spectroscopy (MRS).",GHR,leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +How many people are affected by leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,LBSL is a rare condition. Its exact prevalence is not known.,GHR,leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +What are the genetic changes related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,"LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria. During protein synthesis, in either the mitochondria or the cytoplasm, building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids that forms the protein. Mitochondrial aspartyl-tRNA synthetase plays a role in adding the amino acid aspartic acid at the proper place in mitochondrial proteins. Mutations in the DARS2 gene result in decreased mitochondrial aspartyl-tRNA synthetase enzyme activity, which hinders the addition of aspartic acid to mitochondrial proteins. It is unclear how the gene mutations lead to the signs and symptoms of LBSL. Researchers do not understand why reduced activity of mitochondrial aspartyl-tRNA synthetase specifically affects certain parts of the brain and spinal cord.",GHR,leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +Is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation inherited ?,"LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutation). The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +What is (are) autoimmune lymphoproliferative syndrome ?,"Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). People with ALPS have an increased risk of developing cancer of the immune system cells (lymphoma) and may also be at increased risk of developing other cancers. Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. These disorders can damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), nerves (Guillain-Barre syndrome), or the connective tissues (systemic lupus erythematosus) that provide strength and flexibility to structures throughout the body. Skin problems, usually rashes or hives (urticaria), can occur in ALPS. Occasionally, affected individuals develop hardened skin with painful lumps or patches (panniculitis). Other rare signs and symptoms of ALPS include joint inflammation (arthritis), inflammation of blood vessels (vasculitis), mouth sores (oral ulcers), or an early loss of ovarian function (premature ovarian failure) may also occur in this disorder. Affected individuals can also develop neurological damage (organic brain syndrome) with symptoms that may include headaches, seizures, or a decline in intellectual functions (dementia). ALPS can have different patterns of signs and symptoms, which are sometimes considered separate forms of the disorder. In the most common form, lymphoproliferation generally becomes apparent during childhood. Enlargement of the lymph nodes and spleen frequently occur in affected individuals. Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic form of ALPS have a greatly increased risk of developing lymphoma compared with the general population. Other types of ALPS are very rare. In some affected individuals, severe lymphoproliferation begins around the time of birth, and autoimmune disorders and lymphoma develop at an early age. People with this pattern of signs and symptoms generally do not live beyond childhood. Another form of ALPS involves lymphoproliferation and the tendency to develop systemic lupus erythematosus. Individuals with this form of the disorder do not have an enlarged spleen. Some people have signs and symptoms that resemble those of ALPS, but the specific pattern of these signs and symptoms or the genetic cause may be different than in other forms. Researchers disagree whether individuals with these non-classic forms should be considered to have ALPS or a separate condition.",GHR,autoimmune lymphoproliferative syndrome +How many people are affected by autoimmune lymphoproliferative syndrome ?,ALPS is a rare disorder; its prevalence is unknown. More than 200 affected individuals have been identified worldwide.,GHR,autoimmune lymphoproliferative syndrome +What are the genetic changes related to autoimmune lymphoproliferative syndrome ?,"Mutations in the FAS gene cause ALPS in approximately 75 percent of affected individuals. The FAS gene provides instructions for making a protein involved in cell signaling that results in the self-destruction of cells (apoptosis). When the immune system is turned on (activated) to fight an infection, large numbers of lymphocytes are produced. Normally, these lymphocytes undergo apoptosis when they are no longer required. FAS gene mutations result in an abnormal protein that interferes with apoptosis. Excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. Interference with apoptosis allows cells to multiply without control, leading to the lymphomas and other cancers that occur in people with this disorder. ALPS may also be caused by mutations in additional genes, some of which have not been identified.",GHR,autoimmune lymphoproliferative syndrome +Is autoimmune lymphoproliferative syndrome inherited ?,"In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected parent. Other cases with an autosomal dominant pattern result from new (de novo) gene mutations that occur early in embryonic development in people with no history of the disorder in their family. In a small number of cases, including some cases caused by FAS gene mutations, ALPS is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. ALPS can also arise from a mutation in lymphocytes that is not inherited but instead occurs during an individual's lifetime. This alteration is called a somatic mutation.",GHR,autoimmune lymphoproliferative syndrome +What are the treatments for autoimmune lymphoproliferative syndrome ?,"These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome type 1, autosomal recessive - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 1a - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 1b - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 2 - Genetic Testing Registry: RAS-associated autoimmune leukoproliferative disorder - National Institute of Allergy and Infectious Diseases (NIAID): ALPS Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autoimmune lymphoproliferative syndrome +What is (are) progressive external ophthalmoplegia ?,"Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. Additionally, a close study of muscle cells may reveal abnormalities in a type of DNA found in mitochondria called mitochondrial DNA (mtDNA). Affected individuals often have large deletions of genetic material from mtDNA in muscle tissue. Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include other conditions caused by POLG gene mutations, such as ataxia neuropathy spectrum, as well as other mtDNA deletion disorders, such as Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.",GHR,progressive external ophthalmoplegia +How many people are affected by progressive external ophthalmoplegia ?,The prevalence of progressive external ophthalmoplegia is unknown.,GHR,progressive external ophthalmoplegia +What are the genetic changes related to progressive external ophthalmoplegia ?,"Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. Progressive external ophthalmoplegia can result from mutations in several different genes. In some cases, mutations in the MT-TL1 gene, which is located in mtDNA, cause progressive external ophthalmoplegia. In other cases, mutations in nuclear DNA are responsible for the condition, particularly mutations in the POLG, SLC25A4, and C10orf2 genes. These genes are critical for mtDNA maintenance. Although the mechanism is unclear, mutations in any of these three genes lead to large deletions of mtDNA, ranging from 2,000 to 10,000 DNA building blocks (nucleotides). Researchers have not determined how deletions of mtDNA lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition are probably related to impaired oxidative phosphorylation. It has been suggested that eye muscles are commonly affected by mitochondrial defects because they are especially dependent on oxidative phosphorylation for energy.",GHR,progressive external ophthalmoplegia +Is progressive external ophthalmoplegia inherited ?,"Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in the MT-TL1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. When the nuclear genes POLG, SLC25A4, or C10orf2 are involved, progressive external ophthalmoplegia is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Certain mutations in the POLG gene can also cause a form of the condition that is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some mutations in the POLG gene that cause progressive external ophthalmoplegia occur during a person's lifetime and are not inherited. These genetic changes are called somatic mutations.",GHR,progressive external ophthalmoplegia +What are the treatments for progressive external ophthalmoplegia ?,These resources address the diagnosis or management of progressive external ophthalmoplegia: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 - Genetic Testing Registry: Progressive external ophthalmoplegia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,progressive external ophthalmoplegia +What is (are) glycogen storage disease type IV ?,"Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms. The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles. The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months. The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood. The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms. The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.",GHR,glycogen storage disease type IV +How many people are affected by glycogen storage disease type IV ?,"GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease.",GHR,glycogen storage disease type IV +What are the genetic changes related to glycogen storage disease type IV ?,"Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. As a result, glycogen is not formed properly. Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan bodies accumulate in cells throughout the body, but liver cells and muscle cells are most severely affected in GSD IV. Glycogen accumulation in the liver leads to hepatomegaly and interferes with liver functioning. The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting. Generally, the severity of the disorder is linked to the amount of functional glycogen branching enzyme that is produced. Individuals with the fatal perinatal neuromuscular type tend to produce less than 5 percent of usable enzyme, while those with the childhood neuromuscular type may have around 20 percent of enzyme function. The other types of GSD IV are usually associated with between 5 and 20 percent of working enzyme. These estimates, however, vary among the different types.",GHR,glycogen storage disease type IV +Is glycogen storage disease type IV inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type IV +What are the treatments for glycogen storage disease type IV ?,"These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type IV +What is (are) cherubism ?,"Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, cherubism can occur with Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism has been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects) and fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment).",GHR,cherubism +How many people are affected by cherubism ?,The incidence of cherubism is unknown. At least 250 cases have been reported worldwide.,GHR,cherubism +What are the genetic changes related to cherubism ?,"Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells. Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.",GHR,cherubism +Is cherubism inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,cherubism +What are the treatments for cherubism ?,These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cherubism +What is (are) Crouzonodermoskeletal syndrome ?,"Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the skull bones, which affects the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome usually have normal intelligence. Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae) on x-rays. Noncancerous growths called cementomas may develop in the jaw during young adulthood.",GHR,Crouzonodermoskeletal syndrome +How many people are affected by Crouzonodermoskeletal syndrome ?,Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.,GHR,Crouzonodermoskeletal syndrome +What are the genetic changes related to Crouzonodermoskeletal syndrome ?,Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syndrome. This genetic change appears to disrupt the normal growth of skull bones and affect skin pigmentation.,GHR,Crouzonodermoskeletal syndrome +Is Crouzonodermoskeletal syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,Crouzonodermoskeletal syndrome +What are the treatments for Crouzonodermoskeletal syndrome ?,These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Crouzonodermoskeletal syndrome +What is (are) McLeod neuroacanthocytosis syndrome ?,"McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. McLeod neuroacanthocytosis syndrome affects the brain and spinal cord (central nervous system). Affected individuals have involuntary movements, including jerking motions (chorea), particularly of the arms and legs, and muscle tensing (dystonia) in the face and throat, which can cause grimacing and vocal tics (such as grunting and clicking noises). Dystonia of the tongue can lead to swallowing difficulties. Seizures occur in approximately half of all people with McLeod neuroacanthocytosis syndrome. Individuals with this condition may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also develop psychiatric disorders, such as depression, bipolar disorder, psychosis, or obsessive-compulsive disorder. People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). Sometimes, nerves that connect to muscles atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). Life-threatening heart problems such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart (dilated cardiomyopathy) are common in individuals with this disorder. The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care of oneself, anxiety, depression, and changes in personality may be the first signs of this condition. While these behavioral changes are typically not progressive, the movement and muscle problems and intellectual impairments tend to worsen with age.",GHR,McLeod neuroacanthocytosis syndrome +How many people are affected by McLeod neuroacanthocytosis syndrome ?,McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide.,GHR,McLeod neuroacanthocytosis syndrome +What are the genetic changes related to McLeod neuroacanthocytosis syndrome ?,"Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown. XK gene mutations typically lead to the production of an abnormally short, nonfunctional protein or cause no protein to be produced at all. A lack of XK protein leads to an absence of Kx antigens on red blood cells; the Kell antigen is also less prevalent. The absence of Kx antigen and reduction of Kell antigen is known as the ""McLeod phenotype,"" and refers only to the red blood cells. It is not known how the lack of XK protein leads to the movement problems and other features of McLeod neuroacanthocytosis syndrome.",GHR,McLeod neuroacanthocytosis syndrome +Is McLeod neuroacanthocytosis syndrome inherited ?,"McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. Rarely, females with a mutation in one copy of the XK gene can have the characteristic misshapen blood cells and movement problems associated with McLeod neuroacanthocytosis syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,McLeod neuroacanthocytosis syndrome +What are the treatments for McLeod neuroacanthocytosis syndrome ?,These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,McLeod neuroacanthocytosis syndrome +What is (are) GRACILE syndrome ?,"GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.",GHR,GRACILE syndrome +How many people are affected by GRACILE syndrome ?,"GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.",GHR,GRACILE syndrome +What are the genetic changes related to GRACILE syndrome ?,"GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in oxidative phosphorylation. The genetic change involved in GRACILE syndrome alters the BCS1L protein, and the abnormal protein is broken down more quickly than the normal protein. What little protein remains is able to help form some complete complex III, although the amount is severely reduced, particularly in the liver and kidneys. As a result, complex III activity and oxidative phosphorylation are decreased in these organs in people with GRACILE syndrome. Without energy, these organs become damaged, leading to many of the features of GRACILE syndrome. It is not clear why a change in the BCS1L gene leads to iron accumulation in people with this condition.",GHR,GRACILE syndrome +Is GRACILE syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,GRACILE syndrome +What are the treatments for GRACILE syndrome ?,These resources address the diagnosis or management of GRACILE syndrome: - Genetic Testing Registry: GRACILE syndrome - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Cholestasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,GRACILE syndrome +What is (are) pulmonary veno-occlusive disease ?,"Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension. The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema). Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD. PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis.",GHR,pulmonary veno-occlusive disease +How many people are affected by pulmonary veno-occlusive disease ?,"The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed as idiopathic pulmonary arterial hypertension, which is increased blood pressure in the pulmonary arteries without a known cause. Research suggests that 5 to 25 percent of people diagnosed with idiopathic pulmonary arterial hypertension have PVOD. Based on these numbers, PVOD is thought to affect an estimated 1 to 2 per 10 million people.",GHR,pulmonary veno-occlusive disease +What are the genetic changes related to pulmonary veno-occlusive disease ?,"The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respond appropriately to changes that could damage the cell. For example, when the level of protein building blocks (amino acids) in a cell falls too low, the activity of the EIF2AK4 protein helps reduce the production of other proteins, which conserves amino acids. The EIF2AK4 gene mutations involved in PVOD likely eliminate functional EIF2AK4 protein; however, it is unknown how absence of this protein's function leads to the pulmonary vessel abnormalities that underlie PVOD.",GHR,pulmonary veno-occlusive disease +Is pulmonary veno-occlusive disease inherited ?,"When caused by mutations in the EIF2AK4 gene, PVOD is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In contrast, when caused by mutations in another gene, the condition can have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one parent of an affected individual typically has increased blood pressure in the vessels of the lungs.",GHR,pulmonary veno-occlusive disease +What are the treatments for pulmonary veno-occlusive disease ?,These resources address the diagnosis or management of pulmonary veno-occlusive disease: - Genetic Testing Registry: Pulmonary veno-occlusive disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pulmonary veno-occlusive disease +What is (are) paroxysmal extreme pain disorder ?,"Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.",GHR,paroxysmal extreme pain disorder +How many people are affected by paroxysmal extreme pain disorder ?,Paroxysmal extreme pain disorder is a rare condition; approximately 80 affected individuals have been described in the scientific literature.,GHR,paroxysmal extreme pain disorder +What are the genetic changes related to paroxysmal extreme pain disorder ?,"Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The SCN9A gene mutations that cause paroxysmal extreme pain disorder result in NaV1.7 sodium channels that do not close completely when it is turned off, allowing sodium ions to flow abnormally into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the pain attacks experienced by people with paroxysmal extreme pain disorder. It is unknown why the pain attacks associated with this condition change location over time or what causes the other features of this condition such as seizures and changes in breathing.",GHR,paroxysmal extreme pain disorder +Is paroxysmal extreme pain disorder inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,paroxysmal extreme pain disorder +What are the treatments for paroxysmal extreme pain disorder ?,These resources address the diagnosis or management of paroxysmal extreme pain disorder: - Genetic Testing Registry: Paroxysmal extreme pain disorder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,paroxysmal extreme pain disorder +What is (are) Denys-Drash syndrome ?,"Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys. Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile). Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.",GHR,Denys-Drash syndrome +How many people are affected by Denys-Drash syndrome ?,The prevalence of Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature.,GHR,Denys-Drash syndrome +What are the genetic changes related to Denys-Drash syndrome ?,"Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and kidneys and gonads (ovaries in females and testes in males) before birth. WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic of Denys-Drash syndrome. Abnormal gene activity caused by the loss of normal WT1 protein increases the risk of developing Wilms tumor in affected individuals. Denys-Drash syndrome has features similar to another condition called Frasier syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions.",GHR,Denys-Drash syndrome +Is Denys-Drash syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Denys-Drash syndrome +What are the treatments for Denys-Drash syndrome ?,These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Denys-Drash syndrome +What is (are) X-linked lissencephaly with abnormal genitalia ?,"X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood. Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation.",GHR,X-linked lissencephaly with abnormal genitalia +How many people are affected by X-linked lissencephaly with abnormal genitalia ?,The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature.,GHR,X-linked lissencephaly with abnormal genitalia +What are the genetic changes related to X-linked lissencephaly with abnormal genitalia ?,"Mutations in the ARX gene cause XLAG. The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). The ARX protein regulates genes that play a role in the migration of specialized neurons (interneurons) to their proper location. Interneurons relay signals between neurons. In the pancreas and testes, the ARX protein helps to regulate the process by which cells mature to carry out specific functions (differentiation). ARX gene mutations lead to the production of a nonfunctional ARX protein or to the complete absence of ARX protein. As a result, the ARX protein cannot perform its role regulating the activity of genes important for interneuron migration. In addition to impairing normal brain development, a lack of functional ARX protein disrupts cell differentiation during the formation of the testes, leading to abnormal genitalia. It is thought that the disruption of ARX protein function in the pancreas plays a role in the chronic diarrhea and hyperglycemia experienced by individuals with XLAG.",GHR,X-linked lissencephaly with abnormal genitalia +Is X-linked lissencephaly with abnormal genitalia inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe brain malformations or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked lissencephaly with abnormal genitalia +What are the treatments for X-linked lissencephaly with abnormal genitalia ?,"These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia: - Genetic Testing Registry: Lissencephaly 2, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked lissencephaly with abnormal genitalia +What is (are) neonatal onset multisystem inflammatory disease ?,"Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. The rash persists throughout life, although it changes in size and location. Affected individuals often have headaches, seizures, and vomiting resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Intellectual disability may occur in some people with this disorder. Hearing and vision problems may result from nerve damage and inflammation in various tissues of the eyes. People with NOMID experience joint inflammation, swelling, and cartilage overgrowth, causing characteristic prominent knees and other skeletal abnormalities that worsen over time. Joint deformities called contractures may restrict the movement of certain joints. Other features of this disorder include short stature with shortening of the lower legs and forearms, and characteristic facial features such as a prominent forehead and protruding eyes. Abnormal deposits of a protein called amyloid (amyloidosis) may cause progressive kidney damage.",GHR,neonatal onset multisystem inflammatory disease +How many people are affected by neonatal onset multisystem inflammatory disease ?,NOMID is a very rare disorder; approximately 100 affected individuals have been reported worldwide.,GHR,neonatal onset multisystem inflammatory disease +What are the genetic changes related to neonatal onset multisystem inflammatory disease ?,"Mutations in the NLRP3 gene (also known as CIAS1) cause NOMID. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process. Researchers believe that NLRP3 mutations that cause NOMID result in a hyperactive cryopyrin protein and an inappropriate inflammatory response. Impairment of the body's mechanisms for controlling inflammation results in the episodes of fever and widespread inflammatory damage to the body's cells and tissues seen in NOMID. In about 50 percent of individuals diagnosed with NOMID, no mutations in the NLRP3 gene have been identified. The cause of NOMID in these individuals is unknown.",GHR,neonatal onset multisystem inflammatory disease +Is neonatal onset multisystem inflammatory disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent.",GHR,neonatal onset multisystem inflammatory disease +What are the treatments for neonatal onset multisystem inflammatory disease ?,"These resources address the diagnosis or management of NOMID: - Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,neonatal onset multisystem inflammatory disease +What is (are) aceruloplasminemia ?,"Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Affected individuals may also have difficulty with coordination (ataxia). Some develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties. In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin, a hormone that helps control blood sugar levels. Iron accumulation in the pancreas reduces the cells' ability to make insulin, which impairs blood sugar regulation and leads to the signs and symptoms of diabetes. Iron accumulation in the tissues and organs results in a corresponding shortage (deficiency) of iron in the blood, leading to a shortage of red blood cells (anemia). Anemia and diabetes usually occur by the time an affected person is in his or her twenties. Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina) caused by excess iron. The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination. The specific features of aceruloplasminemia and their severity may vary, even within the same family.",GHR,aceruloplasminemia +How many people are affected by aceruloplasminemia ?,"Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected.",GHR,aceruloplasminemia +What are the genetic changes related to aceruloplasminemia ?,"Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.",GHR,aceruloplasminemia +Is aceruloplasminemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,aceruloplasminemia +What are the treatments for aceruloplasminemia ?,These resources address the diagnosis or management of aceruloplasminemia: - Gene Review: Gene Review: Aceruloplasminemia - Genetic Testing Registry: Deficiency of ferroxidase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aceruloplasminemia +What is (are) color vision deficiency ?,"Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity). A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems.",GHR,color vision deficiency +How many people are affected by color vision deficiency ?,"Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all other populations studied. Blue-yellow color vision defects affect males and females equally. This condition occurs in fewer than 1 in 10,000 people worldwide. Blue cone monochromacy is rarer than the other forms of color vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green color vision defects, blue cone monochromacy affects males much more often than females.",GHR,color vision deficiency +What are the genetic changes related to color vision deficiency ?,"Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones, that transmit visual signals from the eye to the brain. Rods provide vision in low light. Cones provide vision in bright light, including color vision. There are three types of cones, each containing a specific pigment (a photopigment called an opsin) that is most sensitive to particular wavelengths of light. The brain combines input from all three types of cones to produce normal color vision. The OPN1LW, OPN1MW, and OPN1SW genes provide instructions for making the three opsin pigments in cones. The opsin made from the OPN1LW gene is more sensitive to light in the yellow/orange part of the visible spectrum (long-wavelength light), and cones with this pigment are called long-wavelength-sensitive or L cones. The opsin made from the OPN1MW gene is more sensitive to light in the middle of the visible spectrum (yellow/green light), and cones with this pigment are called middle-wavelength-sensitive or M cones. The opsin made from the OPN1SW gene is more sensitive to light in the blue/violet part of the visible spectrum (short-wavelength light), and cones with this pigment are called short-wavelength-sensitive or S cones. Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. These changes lead to an absence of L or M cones or to the production of abnormal opsin pigments in these cones that affect red-green color vision. Blue-yellow color vision defects result from mutations in the OPN1SW gene. These mutations lead to the premature destruction of S cones or the production of defective S cones. Impaired S cone function alters perception of the color blue, making it difficult or impossible to detect differences between shades of blue and green and causing problems with distinguishing dark blue from black. Blue cone monochromacy occurs when genetic changes affecting the OPN1LW and OPN1MW genes prevent both L and M cones from functioning normally. In people with this condition, only S cones are functional, which leads to reduced visual acuity and poor color vision. The loss of L and M cone function also underlies the other vision problems in people with blue cone monochromacy. Some problems with color vision are not caused by gene mutations. These nonhereditary conditions are described as acquired color vision deficiencies. They can be caused by other eye disorders, such as diseases involving the retina, the nerve that carries visual information from the eye to the brain (the optic nerve), or areas of the brain involved in processing visual information. Acquired color vision deficiencies can also be side effects of certain drugs, such as chloroquine (which is used to treat malaria), or result from exposure to particular chemicals, such as organic solvents.",GHR,color vision deficiency +Is color vision deficiency inherited ?,"Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females because in females (who have two X chromosomes), a genetic change would have to occur on both copies of the chromosome to cause the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Blue-yellow color vision defects are inherited in an autosomal dominant pattern, which means one copy of the altered OPN1SW gene in each cell is sufficient to cause the condition. In many cases, an affected person inherits the condition from an affected parent.",GHR,color vision deficiency +What are the treatments for color vision deficiency ?,"These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing Registry: Red-green color vision defects - Genetic Testing Registry: Tritanopia - MedlinePlus Encyclopedia: Color Vision Test - MedlinePlus Encyclopedia: Colorblind These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,color vision deficiency +What is (are) esophageal atresia/tracheoesophageal fistula ?,"Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result. In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities. There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA). While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids. EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).",GHR,esophageal atresia/tracheoesophageal fistula +How many people are affected by esophageal atresia/tracheoesophageal fistula ?,"EA/TEF occurs in 1 in 3,000 to 5,000 newborns.",GHR,esophageal atresia/tracheoesophageal fistula +What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ?,"Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. For example, approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. About 25 percent of individuals with the chromosomal abnormality trisomy 18 are born with EA/TEF. EA/TEF also occurs in VACTERL association, a multifactorial condition. VACTERL is an acronym that stands for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these features; between 50 and 80 percent have a tracheoesophageal fistula.",GHR,esophageal atresia/tracheoesophageal fistula +Is esophageal atresia/tracheoesophageal fistula inherited ?,"When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family.",GHR,esophageal atresia/tracheoesophageal fistula +What are the treatments for esophageal atresia/tracheoesophageal fistula ?,"These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Registry: Tracheoesophageal fistula - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair - University of California, San Francisco (UCSF) Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,esophageal atresia/tracheoesophageal fistula +What is (are) epidermolytic hyperkeratosis ?,"Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor. Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body. Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.",GHR,epidermolytic hyperkeratosis +How many people are affected by epidermolytic hyperkeratosis ?,"Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide.",GHR,epidermolytic hyperkeratosis +What are the genetic changes related to epidermolytic hyperkeratosis ?,"Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each other and form fibers called intermediate filaments, which form networks and provide strength and resiliency to the epidermis. Mutations in the KRT1 or KRT10 genes lead to changes in the keratin proteins, preventing them from forming strong, stable intermediate filament networks within cells. Without a strong network, keratinocytes become fragile and are easily damaged, which can lead to blistering in response to friction or mild trauma. It is unclear how these mutations cause the overgrowth of epidermal cells that results in hyperkeratotic skin. KRT1 gene mutations are associated with PS-type epidermal hyperkeratosis, and KRT10 gene mutations are usually associated with NPS-type. The keratin 1 protein is present in the keratinocytes of the skin on the palms of the hands and the soles of the feet as well as other parts of the body, so mutations in the KRT1 gene lead to skin problems in these areas. The keratin 10 protein is not found in the skin of the palms and soles, so these areas are unaffected by mutations in the KRT10 gene.",GHR,epidermolytic hyperkeratosis +Is epidermolytic hyperkeratosis inherited ?,"Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant pattern, which means one copy of the altered KRT1 or KRT10 gene in each cell is sufficient to cause the disorder. Very rarely, epidermolytic hyperkeratosis caused by mutations in the KRT10 gene can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,epidermolytic hyperkeratosis +What are the treatments for epidermolytic hyperkeratosis ?,These resources address the diagnosis or management of epidermolytic hyperkeratosis: - Genetic Testing Registry: Bullous ichthyosiform erythroderma - The Swedish Information Centre for Rare Diseases: Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,epidermolytic hyperkeratosis +What is (are) Crouzon syndrome ?,"Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.",GHR,Crouzon syndrome +How many people are affected by Crouzon syndrome ?,Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.,GHR,Crouzon syndrome +What are the genetic changes related to Crouzon syndrome ?,"Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.",GHR,Crouzon syndrome +Is Crouzon syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Crouzon syndrome +What are the treatments for Crouzon syndrome ?,These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Crouzon syndrome +What is (are) uromodulin-associated kidney disease ?,"Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease. Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).",GHR,uromodulin-associated kidney disease +How many people are affected by uromodulin-associated kidney disease ?,The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease.,GHR,uromodulin-associated kidney disease +What are the genetic changes related to uromodulin-associated kidney disease ?,"Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine. Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney disease.",GHR,uromodulin-associated kidney disease +Is uromodulin-associated kidney disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,uromodulin-associated kidney disease +What are the treatments for uromodulin-associated kidney disease ?,"These resources address the diagnosis or management of uromodulin-associated kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD) - Genetic Testing Registry: Familial juvenile gout - Genetic Testing Registry: Glomerulocystic kidney disease with hyperuricemia and isosthenuria - Genetic Testing Registry: Medullary cystic kidney disease 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,uromodulin-associated kidney disease +What is (are) congenital fiber-type disproportion ?,"Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy). The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.",GHR,congenital fiber-type disproportion +How many people are affected by congenital fiber-type disproportion ?,"Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown.",GHR,congenital fiber-type disproportion +What are the genetic changes related to congenital fiber-type disproportion ?,"Mutations in multiple genes can cause congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some known and some unidentified, are responsible for the remaining cases. The genes that cause congenital fiber-type disproportion provide instructions for making proteins that are involved in the tensing of muscle fibers (muscle contraction). Changes in these proteins lead to impaired muscle contraction, resulting in muscle weakness. Skeletal muscle is made up of two types of muscle fibers: type I (slow twitch fibers) and type II (fast twitch fibers). Normally, type I and type II fibers are the same size. In people with congenital fiber-type disproportion, type I skeletal muscle fibers are significantly smaller than type II skeletal muscle fibers. It is unclear whether the small type I skeletal muscle fibers lead to muscle weakness or are caused by muscle weakness in people with congenital fiber-type disproportion.",GHR,congenital fiber-type disproportion +Is congenital fiber-type disproportion inherited ?,"Congenital fiber-type disproportion can have multiple inheritance patterns. When this condition is caused by mutations in the ACTA1 gene, it usually occurs in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most other cases of congenital fiber-type disproportion, including those caused by mutations in the RYR1 gene, have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When this condition is caused by mutations in the TPM3 gene, it can occur in either an autosomal dominant or autosomal recessive pattern. In rare cases, this condition can be inherited in an X-linked pattern, although the gene or genes associated with X-linked congenital fiber-type disproportion have not been identified. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. It is estimated that 40 percent of individuals with congenital fiber-type disproportion have an affected relative.",GHR,congenital fiber-type disproportion +What are the treatments for congenital fiber-type disproportion ?,These resources address the diagnosis or management of congenital fiber-type disproportion: - Gene Review: Gene Review: Congenital Fiber-Type Disproportion - Genetic Testing Registry: Congenital myopathy with fiber type disproportion - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital fiber-type disproportion +What is (are) polymicrogyria ?,"Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication. Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.",GHR,polymicrogyria +How many people are affected by polymicrogyria ?,"The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare.",GHR,polymicrogyria +What are the genetic changes related to polymicrogyria ?,"In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrauterine ischemia). Researchers are investigating the genetic causes of polymicrogyria. The condition can result from deletions or rearrangements of genetic material from several different chromosomes. Additionally, mutations in one gene, ADGRG1, have been found to cause a severe form of the condition called bilateral frontoparietal polymicrogyria (BFPP). The ADGRG1 gene appears to be critical for the normal development of the outer layer of the brain. Researchers believe that many other genes are probably involved in the different forms of polymicrogyria.",GHR,polymicrogyria +Is polymicrogyria inherited ?,"Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Other forms of polymicrogyria appear to have an X-linked pattern of inheritance. Genes associated with X-linked conditions are located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Some people with polymicrogyria have relatives with the disorder, while other affected individuals have no family history of the condition. When an individual is the only affected person in his or her family, it can be difficult to determine the cause and possible inheritance pattern of the disorder.",GHR,polymicrogyria +What are the treatments for polymicrogyria ?,"These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal - Genetic Testing Registry: Polymicrogyria, bilateral occipital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,polymicrogyria +What is (are) Cant syndrome ?,"Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as ""coarse."" These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set. Many infants with Cant syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cant syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension). Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.",GHR,Cant syndrome +How many people are affected by Cant syndrome ?,Cant syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature.,GHR,Cant syndrome +What are the genetic changes related to Cant syndrome ?,"Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the other features of Cant syndrome.",GHR,Cant syndrome +Is Cant syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the mutation from one affected parent.",GHR,Cant syndrome +What are the treatments for Cant syndrome ?,These resources address the diagnosis or management of Cant syndrome: - Gene Review: Gene Review: Cant syndrome - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cant syndrome +What is (are) microphthalmia ?,"Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.",GHR,microphthalmia +How many people are affected by microphthalmia ?,"Microphthalmia occurs in approximately 1 in 10,000 individuals.",GHR,microphthalmia +What are the genetic changes related to microphthalmia ?,"Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals. Microphthalmia may also be caused by environmental factors that affect early development, such as a shortage of certain vitamins during pregnancy, radiation, infections such as rubella, or exposure to substances that cause birth defects (teratogens).",GHR,microphthalmia +Is microphthalmia inherited ?,"Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, parents of affected individuals have less severe eye abnormalities. When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns. Often microphthalmia is not inherited, and there is only one affected individual in a family.",GHR,microphthalmia +What are the treatments for microphthalmia ?,"These resources address the diagnosis or management of microphthalmia: - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum - Genetic Testing Registry: Cataract, congenital, with microphthalmia - Genetic Testing Registry: Cataract, microphthalmia and nystagmus - Genetic Testing Registry: Microphthalmia, isolated 1 - Genetic Testing Registry: Microphthalmia, isolated 2 - Genetic Testing Registry: Microphthalmia, isolated 3 - Genetic Testing Registry: Microphthalmia, isolated 4 - Genetic Testing Registry: Microphthalmia, isolated 5 - Genetic Testing Registry: Microphthalmia, isolated 6 - Genetic Testing Registry: Microphthalmia, isolated 7 - Genetic Testing Registry: Microphthalmia, isolated 8 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6 - Genetic Testing Registry: Microphthalmia, isolated, with corectopia - Genetic Testing Registry: Microphthalmos These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,microphthalmia +What is (are) chorea-acanthocytosis ?,"Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak. Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.",GHR,chorea-acanthocytosis +How many people are affected by chorea-acanthocytosis ?,"It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.",GHR,chorea-acanthocytosis +What are the genetic changes related to chorea-acanthocytosis ?,"Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.",GHR,chorea-acanthocytosis +Is chorea-acanthocytosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,chorea-acanthocytosis +What are the treatments for chorea-acanthocytosis ?,These resources address the diagnosis or management of chorea-acanthocytosis: - Gene Review: Gene Review: Chorea-Acanthocytosis - Genetic Testing Registry: Choreoacanthocytosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,chorea-acanthocytosis +What is (are) Rett syndrome ?,"Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances. Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form.",GHR,Rett syndrome +How many people are affected by Rett syndrome ?,"This condition affects an estimated 1 in 8,500 females.",GHR,Rett syndrome +What are the genetic changes related to Rett syndrome ?,"Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells. The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome. Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders.",GHR,Rett syndrome +Is Rett syndrome inherited ?,"In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Males with mutations in the MECP2 gene often die in infancy. However, a small number of males with a genetic change involving MECP2 have developed signs and symptoms similar to those of Rett syndrome, including intellectual disability, seizures, and movement problems. In males, this condition is described as MECP2-related severe neonatal encephalopathy.",GHR,Rett syndrome +What are the treatments for Rett syndrome ?,These resources address the diagnosis or management of Rett syndrome: - Boston Children's Hospital - Cleveland Clinic - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Rett syndrome - International Rett Syndrome Foundation: Living with Rett Syndrome - MedlinePlus Encyclopedia: Rett Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Rett syndrome +What is (are) Y chromosome infertility ?,"Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose. The most severely affected men do not have any mature sperm cells in the testes. This form of Y chromosome infertility is called Sertoli cell-only syndrome. Men with Y chromosome infertility usually do not have any other signs or symptoms. Occasionally they may have unusually small testes or undescended testes (cryptorchidism).",GHR,Y chromosome infertility +How many people are affected by Y chromosome infertility ?,"Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia.",GHR,Y chromosome infertility +What are the genetic changes related to Y chromosome infertility ?,"As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. Deletions in the AZF regions may affect several genes. The missing genetic material likely prevents production of a number of proteins needed for normal sperm cell development, resulting in Y chromosome infertility. In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. A small number of individuals with Y chromosome infertility have deletions of all or part of the USP9Y gene, while other genes in the AZF regions are unaffected. Deletions in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in Y chromosome infertility.",GHR,Y chromosome infertility +Is Y chromosome infertility inherited ?,"Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility. This form of inheritance is called Y-linked. Daughters, who do not inherit the Y chromosome, are not affected.",GHR,Y chromosome infertility +What are the treatments for Y chromosome infertility ?,"These resources address the diagnosis or management of Y chromosome infertility: - Gene Review: Gene Review: Y Chromosome Infertility - Genetic Testing Registry: Spermatogenic failure, Y-linked 2 - Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 - MedlinePlus Encyclopedia: Semen Analysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Y chromosome infertility +What is (are) aspartylglucosaminuria ?,"Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mild intellectual disability then becomes apparent, and learning occurs at a slowed pace. Intellectual disability progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with aspartylglucosaminuria may develop seizures or problems with movement. People with this condition may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. The nose is short and broad and the face is usually square-shaped. Children with this condition may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short. Affected children also tend to have frequent upper respiratory infections. Individuals with aspartylglucosaminuria usually survive into mid-adulthood.",GHR,aspartylglucosaminuria +How many people are affected by aspartylglucosaminuria ?,"Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, but the incidence is unknown.",GHR,aspartylglucosaminuria +What are the genetic changes related to aspartylglucosaminuria ?,"Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). AGA gene mutations result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins can build up within the lysosomes. Excess glycoproteins disrupt the normal functions of the cell and can result in destruction of the cell. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria.",GHR,aspartylglucosaminuria +Is aspartylglucosaminuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,aspartylglucosaminuria +What are the treatments for aspartylglucosaminuria ?,These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aspartylglucosaminuria +What is (are) Treacher Collins syndrome ?,"Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.",GHR,Treacher Collins syndrome +How many people are affected by Treacher Collins syndrome ?,"This condition affects an estimated 1 in 50,000 people.",GHR,Treacher Collins syndrome +What are the genetic changes related to Treacher Collins syndrome ?,"Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. The proteins produced from the TCOF1, POLR1C, and POLR1D genes all appear to play important roles in the early development of bones and other tissues of the face. These proteins are involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into new proteins, which is essential for the normal functioning and survival of cells. Mutations in the TCOF1, POLR1C, or POLR1D gene reduce the production of rRNA. Researchers speculate that a decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.",GHR,Treacher Collins syndrome +Is Treacher Collins syndrome inherited ?,"When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent. When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Treacher Collins syndrome +What are the treatments for Treacher Collins syndrome ?,"These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing Registry: Treacher Collins syndrome - Genetic Testing Registry: Treacher collins syndrome 1 - Genetic Testing Registry: Treacher collins syndrome 2 - MedlinePlus Encyclopedia: Micrognathia - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears - MedlinePlus Encyclopedia: Treacher-Collins Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Treacher Collins syndrome +What is (are) familial pityriasis rubra pilaris ?,"Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term ""pityriasis"" refers to scaling; ""rubra"" means redness; and ""pilaris"" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.",GHR,familial pityriasis rubra pilaris +How many people are affected by familial pityriasis rubra pilaris ?,"Familial pityriasis rubra pilaris is a rare condition. Its incidence is unknown, although the familial form appears to be the least common type of pityriasis rubra pilaris.",GHR,familial pityriasis rubra pilaris +What are the genetic changes related to familial pityriasis rubra pilaris ?,"In most cases of pityriasis rubra pilaris, the cause of the condition is unknown. However, mutations in the CARD14 gene have been found to cause the familial form of the disorder in a few affected families. The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-B). NF-B regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis). The CARD14 protein is found in many of the body's tissues, but it is particularly abundant in the skin. NF-B signaling appears to play an important role in regulating inflammation in the skin. Mutations in the CARD14 gene lead to overactivation of NF-B signaling, which triggers an abnormal inflammatory response. Researchers are working to determine how these changes lead to the specific features of familial pityriasis rubra pilaris.",GHR,familial pityriasis rubra pilaris +Is familial pityriasis rubra pilaris inherited ?,"Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops the condition's characteristic skin abnormalities. The other types of pityriasis rubra pilaris are sporadic, which means they occur in people with no history of the disorder in their family.",GHR,familial pityriasis rubra pilaris +What are the treatments for familial pityriasis rubra pilaris ?,These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial pityriasis rubra pilaris +What is (are) hereditary paraganglioma-pheochromocytoma ?,"Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the ""fight-or-flight"" response, a series of changes in the body due to hormones released in response to stress. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma. Researchers have identified four types of hereditary paraganglioma-pheochromocytoma, named types 1 through 4. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s.",GHR,hereditary paraganglioma-pheochromocytoma +How many people are affected by hereditary paraganglioma-pheochromocytoma ?,Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 million people.,GHR,hereditary paraganglioma-pheochromocytoma +What are the genetic changes related to hereditary paraganglioma-pheochromocytoma ?,"Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4. The SDHB, SDHC, and SDHD genes provide instructions for making three of the four subunits of an enzyme called succinate dehydrogenase (SDH). In addition, the protein made by the SDHAF2 gene is required for the SDH enzyme to function. The SDH enzyme links two important cellular pathways called the citric acid cycle (or Krebs cycle) and oxidative phosphorylation. These pathways are critical in converting the energy from food into a form that cells can use. As part of the citric acid cycle, the SDH enzyme converts a compound called succinate to another compound called fumarate. Succinate acts as an oxygen sensor in the cell and can help turn on specific pathways that stimulate cells to grow in a low-oxygen environment (hypoxia). Mutations in the SDHB, SDHC, SDHD, and SDHAF2 genes lead to the loss or reduction of SDH enzyme activity. Because the mutated SDH enzyme cannot convert succinate to fumarate, succinate accumulates in the cell. As a result, the hypoxia pathways are triggered in normal oxygen conditions, which lead to abnormal cell growth and tumor formation.",GHR,hereditary paraganglioma-pheochromocytoma +Is hereditary paraganglioma-pheochromocytoma inherited ?,"Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells. The risk of developing hereditary paraganglioma-pheochromocytoma types 1 and 2 is passed on only if the mutated copy of the gene is inherited from the father. The mechanism of this pattern of inheritance is unknown. The risk of developing types 3 and 4 can be inherited from the mother or the father.",GHR,hereditary paraganglioma-pheochromocytoma +What are the treatments for hereditary paraganglioma-pheochromocytoma ?,These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma: - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes - Genetic Testing Registry: Paragangliomas 1 - Genetic Testing Registry: Paragangliomas 2 - Genetic Testing Registry: Paragangliomas 3 - Genetic Testing Registry: Paragangliomas 4 - MedlinePlus Encyclopedia: Pheochromocytoma - National Cancer Institute: Pheochromocytoma and Paraganglioma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary paraganglioma-pheochromocytoma +What is (are) glycine encephalopathy ?,"Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females. Researchers have identified several other types of glycine encephalopathy with variable signs and symptoms. The most common of these atypical types is called the infantile form. Children with this condition develop normally until they are about 6 months old, when they experience delayed development and may begin having seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood and cause a variety of medical problems that primarily affect the nervous system. Rarely, the characteristic features of classical glycine encephalopathy improve with time. These cases are classified as transient glycine encephalopathy. In this form of the condition, glycine levels decrease to normal or near-normal after being very high at birth. Many children with temporarily high glycine levels go on to develop normally and experience few long-term medical problems. Intellectual disability and seizures occur in some affected individuals, however, even after glycine levels decrease.",GHR,glycine encephalopathy +How many people are affected by glycine encephalopathy ?,"The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada.",GHR,glycine encephalopathy +What are the genetic changes related to glycine encephalopathy ?,"Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT and GLDC genes provide instructions for making proteins that work together as part of a larger enzyme complex. This complex, known as glycine cleavage enzyme, is responsible for breaking down glycine into smaller pieces. Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. Damage caused by harmful amounts of this molecule in the brain and spinal cord is responsible for the intellectual disability, seizures, and breathing difficulties characteristic of glycine encephalopathy.",GHR,glycine encephalopathy +Is glycine encephalopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycine encephalopathy +What are the treatments for glycine encephalopathy ?,These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glycine encephalopathy +What is (are) Ehlers-Danlos syndrome ?,"Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic ""cigarette paper"" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.",GHR,Ehlers-Danlos syndrome +How many people are affected by Ehlers-Danlos syndrome ?,"Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and about 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.",GHR,Ehlers-Danlos syndrome +What are the genetic changes related to Ehlers-Danlos syndrome ?,"Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown). The vascular type results from mutations in the COL3A1 gene. PLOD1 gene mutations cause the kyphoscoliosis type. Mutations in the COL1A1 gene or the COL1A2 gene result in the arthrochalasia type. The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. The other, less well-characterized forms of Ehlers-Danlos syndrome result from mutations in other genes, some of which have not been identified. Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, PLOD1, and TNXB, provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition.",GHR,Ehlers-Danlos syndrome +Is Ehlers-Danlos syndrome inherited ?,"The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classical, hypermobility, and vascular forms of the disorder have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new (sporadic) gene mutations and occur in people with no history of the disorder in their family. The dermatosparaxis and kyphoscoliosis types of Ehlers-Danlos syndrome, as well as some of the rare, less well-characterized types of the disorder, are inherited in an autosomal recessive pattern. In autosomal recessive inheritance, two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.",GHR,Ehlers-Danlos syndrome +What are the treatments for Ehlers-Danlos syndrome ?,"These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Ehlers-Danlos syndrome +What is (are) Robinow syndrome ?,"Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosomal dominant. Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, a wide nasal bridge, and a broad and triangle-shaped mouth. Together, these facial features are sometimes described as ""fetal facies"" because they resemble the facial structure of a developing fetus. Other common features of autosomal recessive Robinow syndrome include underdeveloped genitalia in both males and females, and dental problems such as crowded teeth and overgrowth of the gums. Kidney and heart defects are also possible. Delayed development occurs in 10 to 15 percent of people with this condition, although intelligence is usually normal. Autosomal dominant Robinow syndrome has signs and symptoms that are similar to, but tend to be milder than, those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form, and short stature is less pronounced. A variant form of autosomal dominant Robinow syndrome features increased bone mineral density (osteosclerosis) in addition to the signs and symptoms listed above. This variant is called the osteosclerotic form of Robinow syndrome.",GHR,Robinow syndrome +How many people are affected by Robinow syndrome ?,"Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and Brazil. Autosomal dominant Robinow syndrome has been diagnosed in fewer than 50 families; about 10 of these families have had the osteosclerotic form.",GHR,Robinow syndrome +What are the genetic changes related to Robinow syndrome ?,"Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears to play a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts development starting before birth and leads to the characteristic features of Robinow syndrome. Autosomal dominant Robinow syndrome can be caused by mutations in the WNT5A or DVL1 gene, with the osteosclerotic form of the condition resulting from DVL1 gene mutations. The proteins produced from these genes appear to be part of the same chemical signaling pathways as the ROR2 protein. Mutations in either of these genes alter the production or function of their respective proteins, which impairs chemical signaling that is important for early development. Some people with the characteristic signs and symptoms of Robinow syndrome do not have an identified mutation in the ROR2, WNT5A, or DVL1 gene. In these cases, the cause of the condition is unknown.",GHR,Robinow syndrome +Is Robinow syndrome inherited ?,"As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases of Robinow syndrome, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Robinow syndrome +What are the treatments for Robinow syndrome ?,These resources address the diagnosis or management of Robinow syndrome: - Gene Review: Gene Review: Autosomal Dominant Robinow Syndrome - Gene Review: Gene Review: ROR2-Related Robinow Syndrome - Genetic Testing Registry: Robinow syndrome - University of Chicago: Genetic Testing for Robinow Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Robinow syndrome +What is (are) focal dermal hypoplasia ?,"Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present. About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.",GHR,focal dermal hypoplasia +How many people are affected by focal dermal hypoplasia ?,"Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown.",GHR,focal dermal hypoplasia +What are the genetic changes related to focal dermal hypoplasia ?,"Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures before birth. Mutations in the PORCN gene appear to prevent the production of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during early development.",GHR,focal dermal hypoplasia +Is focal dermal hypoplasia inherited ?,"Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. The X chromosome that contains the mutated PORCN gene may be turned on (active) or turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may play a role in determining the severity of focal dermal hypoplasia in females. In males (who have only one X chromosome), a mutation in the only copy of the PORCN gene in each cell appears to be lethal very early in development. A male can be born with focal dermal hypoplasia if he has a PORCN gene mutation in only some of his cells (known as mosaicism). Affected males typically experience milder symptoms of the disorder than females because more of their cells have a functional copy of the PORCN gene. A characteristic of focal dermal hypoplasia is that mildly affected fathers cannot pass this condition to their sons, but they can pass it to their daughters, who are usually more severely affected than they are. Women with focal dermal hypoplasia cannot pass this condition to their sons (because it is lethal early in development) but can pass it to their daughters. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Only about 5 percent of females with this condition inherit a mutation in the PORCN gene from a parent.",GHR,focal dermal hypoplasia +What are the treatments for focal dermal hypoplasia ?,These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,focal dermal hypoplasia +What is (are) isovaleric acidemia ?,"Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine. Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.",GHR,isovaleric acidemia +How many people are affected by isovaleric acidemia ?,"Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States.",GHR,isovaleric acidemia +What are the genetic changes related to isovaleric acidemia ?,"Mutations in the IVD gene cause isovaleric acidemia. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.",GHR,isovaleric acidemia +Is isovaleric acidemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,isovaleric acidemia +What are the treatments for isovaleric acidemia ?,These resources address the diagnosis or management of isovaleric acidemia: - Baby's First Test - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isovaleric acidemia +What is (are) Senior-Lken syndrome ?,"Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Lken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.",GHR,Senior-Lken syndrome +How many people are affected by Senior-Lken syndrome ?,"Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.",GHR,Senior-Lken syndrome +What are the genetic changes related to Senior-Lken syndrome ?,"Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Mutations in the genes associated with Senior-Lken syndrome likely lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways within cells. Although researchers believe that defective cilia are responsible for the features of this disorder, it remains unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis. Some people with Senior-Lken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. In these cases, the genetic cause of the disorder is unknown.",GHR,Senior-Lken syndrome +Is Senior-Lken syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Senior-Lken syndrome +What are the treatments for Senior-Lken syndrome ?,These resources address the diagnosis or management of Senior-Lken syndrome: - Genetic Testing Registry: Senior-Loken syndrome 1 - Genetic Testing Registry: Senior-Loken syndrome 3 - Genetic Testing Registry: Senior-Loken syndrome 4 - Genetic Testing Registry: Senior-Loken syndrome 5 - Genetic Testing Registry: Senior-Loken syndrome 6 - Genetic Testing Registry: Senior-Loken syndrome 7 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Senior-Lken syndrome +What is (are) boomerang dysplasia ?,"Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a ""boomerang"" shape. Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum). Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.",GHR,boomerang dysplasia +How many people are affected by boomerang dysplasia ?,Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.,GHR,boomerang dysplasia +What are the genetic changes related to boomerang dysplasia ?,"Mutations in the FLNB gene cause boomerang dysplasia. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause boomerang dysplasia change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of boomerang dysplasia.",GHR,boomerang dysplasia +Is boomerang dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,boomerang dysplasia +What are the treatments for boomerang dysplasia ?,These resources address the diagnosis or management of boomerang dysplasia: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Boomerang dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,boomerang dysplasia +What is (are) 6q24-related transient neonatal diabetes mellitus ?,"6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life. Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.",GHR,6q24-related transient neonatal diabetes mellitus +How many people are affected by 6q24-related transient neonatal diabetes mellitus ?,"Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus.",GHR,6q24-related transient neonatal diabetes mellitus +What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ?,"6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or ""turned on,"" in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person's father; others are active only when inherited from a person's mother. This phenomenon is known as genomic imprinting. The 6q24 region includes paternally expressed imprinted genes, which means that normally only the copy of each gene that comes from the father is active. The copy of each gene that comes from the mother is inactivated (silenced) by a mechanism called methylation. Overactivity of one of the paternally expressed imprinted genes in this region, PLAGL1, is believed to cause 6q24-related transient neonatal diabetes mellitus. Other paternally expressed imprinted genes in the region, some of which have not been identified, may also be involved in this disorder. There are three ways that overexpression of imprinted genes in the 6q24 region can occur. About 40 percent of cases of 6q24-related transient neonatal diabetes mellitus are caused by a genetic change known as paternal uniparental disomy (UPD) of chromosome 6. In paternal UPD, people inherit both copies of the affected chromosome from their father instead of one copy from each parent. Paternal UPD causes people to have two active copies of paternally expressed imprinted genes, rather than one active copy from the father and one inactive copy from the mother. Another 40 percent of cases of 6q24-related transient neonatal diabetes mellitus occur when the copy of chromosome 6 that comes from the father has a duplication of genetic material including the paternally expressed imprinted genes in the 6q24 region. The third mechanism by which overexpression of genes in the 6q24 region can occur is by impaired silencing of the maternal copy of the genes (maternal hypomethylation). Approximately 20 percent of cases of 6q24-related transient neonatal diabetes mellitus are caused by maternal hypomethylation. Some people with this disorder have a genetic change in the maternal copy of the 6q24 region that prevents genes in that region from being silenced. Other affected individuals have a more generalized impairment of gene silencing involving many imprinted regions, called hypomethylation of imprinted loci (HIL). About half the time, HIL is caused by mutations in the ZFP57 gene. Studies indicate that the protein produced from this gene is important in establishing and maintaining gene silencing. The other causes of HIL are unknown. Because HIL can cause overexpression of many genes, this mechanism may account for the additional health problems that occur in some people with 6q24-related transient neonatal diabetes mellitus. It is not well understood how overexpression of PLAGL1 and other genes in the 6q24 region causes 6q24-related transient neonatal diabetes mellitus and why the condition improves after infancy. The protein produced from the PLAGL1 gene helps control another protein called the pituitary adenylate cyclase-activating polypeptide receptor (PACAP1), and one of the functions of this protein is to stimulate insulin secretion by beta cells in the pancreas. In addition, overexpression of the PLAGL1 protein has been shown to stop the cycle of cell division and lead to the self-destruction of cells (apoptosis). Researchers suggest that PLAGL1 gene overexpression may reduce the number of insulin-secreting beta cells or impair their function in affected individuals. Lack of sufficient insulin results in the signs and symptoms of diabetes mellitus. In individuals with 6q24-related transient neonatal diabetes mellitus, these signs and symptoms are most likely to occur during times of physiologic stress, including the rapid growth of infancy, childhood illnesses, and pregnancy. Because insulin acts as a growth promoter during early development, a shortage of this hormone may account for the intrauterine growth retardation seen in 6q24-related transient neonatal diabetes mellitus.",GHR,6q24-related transient neonatal diabetes mellitus +Is 6q24-related transient neonatal diabetes mellitus inherited ?,"Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Sometimes, the genetic change responsible for 6q24-related transient neonatal diabetes mellitus is inherited. For example, a duplication of genetic material on the paternal chromosome 6 can be passed from one generation to the next. When 6q24-related transient neonatal diabetes mellitus is caused by ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,6q24-related transient neonatal diabetes mellitus +What are the treatments for 6q24-related transient neonatal diabetes mellitus ?,"These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - The Merck Manual for Healthcare Professionals - University of Chicago Kovler Diabetes Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,6q24-related transient neonatal diabetes mellitus +What is (are) autosomal dominant hyper-IgE syndrome ?,"Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. These infections often result in the formation of air-filled cysts (pneumatoceles) in the lungs. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with AD-HIES have such high levels of IgE. AD-HIES also affects other parts of the body, including the bones and teeth. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency for bones to fracture easily. Dental abnormalities are also common in this condition. The primary (baby) teeth do not fall out at the usual time during childhood but are retained as the adult teeth grow in. Other signs and symptoms of AD-HIES can include abnormalities of the arteries that supply blood to the heart muscle (coronary arteries), distinctive facial features, and structural abnormalities of the brain, which do not affect a person's intelligence.",GHR,autosomal dominant hyper-IgE syndrome +How many people are affected by autosomal dominant hyper-IgE syndrome ?,"This condition is rare, affecting fewer than 1 per million people.",GHR,autosomal dominant hyper-IgE syndrome +What are the genetic changes related to autosomal dominant hyper-IgE syndrome ?,"Mutations in the STAT3 gene cause most cases of AD-HIES. This gene provides instructions for making a protein that plays an important role in several body systems. To carry out its roles, the STAT3 protein attaches to DNA and helps control the activity of particular genes. In the immune system, the STAT3 protein regulates genes that are involved in the maturation of immune system cells, especially T cells. These cells help control the body's response to foreign invaders such as bacteria and fungi. Changes in the STAT3 gene alter the structure and function of the STAT3 protein, impairing its ability to control the activity of other genes. A shortage of functional STAT3 blocks the maturation of T cells (specifically a subset known as Th17 cells) and other immune cells. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections, particularly bacterial and fungal infections of the lungs and skin. The STAT3 protein is also involved in the formation of cells that build and break down bone tissue, which could help explain why STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of this condition. It is unclear how STAT3 gene mutations lead to increased IgE levels. When AD-HIES is not caused by STAT3 gene mutations, the genetic cause of the condition is unknown.",GHR,autosomal dominant hyper-IgE syndrome +Is autosomal dominant hyper-IgE syndrome inherited ?,"AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in this gene. These cases occur in people with no history of the disorder in their family.",GHR,autosomal dominant hyper-IgE syndrome +What are the treatments for autosomal dominant hyper-IgE syndrome ?,These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome: - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal dominant hyper-IgE syndrome +What is (are) type 1 diabetes ?,"Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death. Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.",GHR,type 1 diabetes +How many people are affected by type 1 diabetes ?,"Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in Asia and South America, with reported incidences as low as 1 in 1 million per year. For unknown reasons, during the past 20 years the worldwide incidence of type 1 diabetes has been increasing by 2 to 5 percent each year. Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes worldwide. Most people with diabetes have type 2 diabetes, in which the body continues to produce insulin but becomes less able to use it.",GHR,type 1 diabetes +What are the genetic changes related to type 1 diabetes ?,"The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes. HLA genes, including HLA-DQA1, HLA-DQB1, and HLA-DRB1, have many variations, and individuals have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing type 1 diabetes, with particular combinations of HLA-DQA1, HLA-DQB1, and HLA-DRB1 gene variations resulting in the highest risk. These haplotypes seem to increase the risk of an inappropriate immune response to beta cells. However, these variants are also found in the general population, and only about 5 percent of individuals with the gene variants develop type 1 diabetes. HLA variations account for approximately 40 percent of the genetic risk for the condition. Other HLA variations appear to be protective against the disease. Additional contributors, such as environmental factors and variations in other genes, are also thought to influence the development of this complex disorder.",GHR,type 1 diabetes +Is type 1 diabetes inherited ?,"A predisposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown.",GHR,type 1 diabetes +What are the treatments for type 1 diabetes ?,"These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 11 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 12 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 13 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 15 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 17 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 18 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 19 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 2 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 20 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 21 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 22 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 23 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 24 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 3 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 4 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 5 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 6 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 7 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 8 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to - MedlinePlus Encyclopedia: Anti-Insulin Antibody Test - MedlinePlus Encyclopedia: Home Blood Sugar Testing - MedlinePlus Health Topic: Islet Cell Transplantation - MedlinePlus Health Topic: Pancreas Transplantation - Type 1 Diabetes in Adults: National Clinical Guideline for Diagnosis and Management in Primary and Secondary Care (2004) - Type 1 Diabetes: Diagnosis and Management of Type 1 Diabetes in Children and Young People (2004) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,type 1 diabetes +What is (are) ADCY5-related dyskinesia ?,"ADCY5-related dyskinesia is a movement disorder; the term ""dyskinesia"" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face. The abnormal movements associated with ADCY5-related dyskinesia usually begin between infancy and late adolescence. They can occur continually during waking hours and in some cases also during sleep. Severely affected infants may experience weak muscle tone (hypotonia) and delay in development of motor skills such as crawling and walking; these individuals may have difficulties with activities of daily living and may eventually require a wheelchair. In more mildly affected individuals, the condition has little impact on walking and other motor skills, although the abnormal movements can lead to clumsiness or difficulty with social acceptance in school or other situations. In some people with ADCY5-related dyskinesia, the disorder is generally stable throughout their lifetime. In others, it slowly gets worse (progresses) in both frequency and severity before stabilizing or even improving in middle age. Anxiety, fatigue, and other stress can temporarily increase the severity of the signs and symptoms of ADCY5-related dyskinesia, while some affected individuals may experience remission periods of days or weeks without abnormal movements. Life expectancy and intelligence are unaffected by this disorder.",GHR,ADCY5-related dyskinesia +How many people are affected by ADCY5-related dyskinesia ?,The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature.,GHR,ADCY5-related dyskinesia +What are the genetic changes related to ADCY5-related dyskinesia ?,"As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions. Some ADCY5 gene mutations that cause ADCY5-related dyskinesia are thought to increase adenylate cyclase 5 enzyme activity and the level of cAMP within cells. Others prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.",GHR,ADCY5-related dyskinesia +Is ADCY5-related dyskinesia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,ADCY5-related dyskinesia +What are the treatments for ADCY5-related dyskinesia ?,"These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,ADCY5-related dyskinesia +What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ?,"Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled. In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide. Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder. Most infants with ACD/MPV are born with additional abnormalities. These may include abnormal twisting (malrotation) of the large intestine or other malformations of the gastrointestinal tract. Cardiovascular and genitourinary abnormalities are also common in affected individuals. Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. They experience shortness of breath and cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood. Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks.",GHR,alveolar capillary dysplasia with misalignment of pulmonary veins +How many people are affected by alveolar capillary dysplasia with misalignment of pulmonary veins ?,ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide.,GHR,alveolar capillary dysplasia with misalignment of pulmonary veins +What are the genetic changes related to alveolar capillary dysplasia with misalignment of pulmonary veins ?,"ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels. The FOXF1 protein is also involved in the development of the gastrointestinal tract. Mutations in the FOXF1 gene that cause ACD/MPV result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels and gastrointestinal tract. ACD/MPV can also be caused by a deletion of genetic material on the long arm of chromosome 16 in a region known as 16q24.1. This region includes several genes, including the FOXF1 gene. Deletion of one copy of the FOXF1 gene in each cell reduces the production of the FOXF1 protein. A shortage of FOXF1 protein affects the development of pulmonary blood vessels and causes the main features of ACD/MPV. Researchers suggest that the loss of other genes in this region probably causes the additional abnormalities, such as heart defects, seen in some infants with this disorder. Like FOXF1, these genes also provide instructions for making transcription factors that regulate development of various body systems before birth. In about 60 percent of affected infants, the genetic cause of ACD/MPV is unknown.",GHR,alveolar capillary dysplasia with misalignment of pulmonary veins +Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ?,"ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or deletion, one altered or missing gene in each cell is sufficient to cause the disorder. Individuals with ACD/MPV do not pass the genetic change on to their children because they do not live long enough to reproduce. A few families have been identified in which more than one sibling has ACD/MPV. It is not clear how ACD/MPV is inherited in these families because no genetic changes have been identified.",GHR,alveolar capillary dysplasia with misalignment of pulmonary veins +What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ?,These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alveolar capillary dysplasia with misalignment of pulmonary veins +What is (are) Bartter syndrome ?,"Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.",GHR,Bartter syndrome +How many people are affected by Bartter syndrome ?,"The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations.",GHR,Bartter syndrome +What are the genetic changes related to Bartter syndrome ?,"Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes. The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome. In some people with Bartter syndrome, the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.",GHR,Bartter syndrome +Is Bartter syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bartter syndrome +What are the treatments for Bartter syndrome ?,"These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Genetic Testing Registry: Bartter syndrome type 4 - Genetic Testing Registry: Bartter syndrome, type 4b - Genetic Testing Registry: Bartter's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Bartter syndrome +What is (are) Alstrm syndrome ?,"Alstrm syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrm syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrm syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrm syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.",GHR,Alstrm syndrome +How many people are affected by Alstrm syndrome ?,More than 900 people with Alstrm syndrome have been reported worldwide.,GHR,Alstrm syndrome +What are the genetic changes related to Alstrm syndrome ?,"Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alstrm syndrome affect many parts of the body.",GHR,Alstrm syndrome +Is Alstrm syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Alstrm syndrome +What are the treatments for Alstrm syndrome ?,These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Alstrm syndrome +What is (are) purine nucleoside phosphorylase deficiency ?,"Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by ""opportunistic"" organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically grow much more slowly than healthy children and experience pneumonia, chronic diarrhea, and widespread skin rashes. Without successful treatment to restore immune function, children with SCID usually do not survive past early childhood. About two-thirds of individuals with purine nucleoside phosphorylase deficiency have neurological problems, which may include developmental delay, intellectual disability, difficulties with balance and coordination (ataxia), and muscle stiffness (spasticity). People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs.",GHR,purine nucleoside phosphorylase deficiency +How many people are affected by purine nucleoside phosphorylase deficiency ?,Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases.,GHR,purine nucleoside phosphorylase deficiency +What are the genetic changes related to purine nucleoside phosphorylase deficiency ?,"Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders by making immune proteins called antibodies that tag foreign particles and germs for destruction or by directly attacking virus-infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus and lymph nodes and then released into the blood. The thymus is a gland located behind the breastbone; lymph nodes are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system. Purine nucleoside phosphorylase is known as a housekeeping enzyme because it clears away waste molecules that are generated when DNA is broken down. Mutations in the PNP gene reduce or eliminate the activity of purine nucleoside phosphorylase. The resulting excess of waste molecules and further reactions involving them lead to the buildup of a substance called deoxyguanosine triphosphate (dGTP) to levels that are toxic to lymphocytes. Immature lymphocytes in the thymus are particularly vulnerable to a toxic buildup of dGTP, which damages them and triggers their self-destruction (apoptosis). The number of lymphocytes in other lymphoid tissues is also greatly reduced, resulting in the immune deficiency characteristic of purine nucleoside phosphorylase deficiency.",GHR,purine nucleoside phosphorylase deficiency +Is purine nucleoside phosphorylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,purine nucleoside phosphorylase deficiency +What are the treatments for purine nucleoside phosphorylase deficiency ?,These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - National Marrow Donor Program These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,purine nucleoside phosphorylase deficiency +What is (are) hereditary cerebral amyloid angiopathy ?,"Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer. There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed. The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy). People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia. The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties. Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus). Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.",GHR,hereditary cerebral amyloid angiopathy +How many people are affected by hereditary cerebral amyloid angiopathy ?,"The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature.",GHR,hereditary cerebral amyloid angiopathy +What are the genetic changes related to hereditary cerebral amyloid angiopathy ?,"Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in the ITM2B gene. The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). The precise function of this protein is unknown, but researchers speculate that it may attach (bind) to other proteins on the surface of cells or help cells attach to one another. In the brain, the amyloid precursor protein plays a role in the development and maintenance of nerve cells (neurons). The CST3 gene provides instructions for making a protein called cystatin C. This protein inhibits the activity of enzymes called cathepsins that cut apart other proteins in order to break them down. Cystatin C is found in biological fluids, such as blood. Its levels are especially high in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF). The ITM2B gene provides instructions for producing a protein that is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and keeping cells from growing and dividing too fast or in an uncontrolled way. Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein. Mutations in the APP, CST3, or ITM2B gene lead to the production of proteins that are less stable than normal and that tend to cluster together (aggregate). These aggregated proteins form protein clumps called amyloid deposits that accumulate in certain areas of the brain and in its blood vessels. The amyloid deposits, known as plaques, damage brain cells, eventually causing cell death and impairing various parts of the brain. Brain cell loss in people with hereditary cerebral amyloid angiopathy can lead to seizures, movement abnormalities, and other neurological problems. In blood vessels, amyloid plaques replace the muscle fibers and elastic fibers that give the blood vessels flexibility, causing them to become weak and prone to breakage. A break in a blood vessel in the brain causes bleeding in the brain (hemorrhagic stroke), which can lead to brain damage and dementia.",GHR,hereditary cerebral amyloid angiopathy +Is hereditary cerebral amyloid angiopathy inherited ?,"Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people with no history of the disorder in their family. The cause of this form of the condition is unknown. These cases are described as sporadic and are not inherited.",GHR,hereditary cerebral amyloid angiopathy +What are the treatments for hereditary cerebral amyloid angiopathy ?,"These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cerebral amyloid angiopathy, Icelandic type - Johns Hopkins Medicine: Intracerebral Hemorrhage - MedlinePlus Encyclopedia: Cerebral Amyloid Angiopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hereditary cerebral amyloid angiopathy +What is (are) Renpenning syndrome ?,"Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder. About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus. Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.",GHR,Renpenning syndrome +How many people are affected by Renpenning syndrome ?,Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified.,GHR,Renpenning syndrome +What are the genetic changes related to Renpenning syndrome ?,"Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins. While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins. In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development. Most of the mutations in the PQBP1 gene that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.",GHR,Renpenning syndrome +Is Renpenning syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation typically has to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Renpenning syndrome +What are the treatments for Renpenning syndrome ?,These resources address the diagnosis or management of Renpenning syndrome: - Genetic Testing Registry: Renpenning syndrome 1 - Greenwood Genetics Center: X-Linked Intellectual Disability - Kennedy Krieger Institute: Center for Genetic Disorders of Cognition and Behavior These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Renpenning syndrome +What is (are) malignant migrating partial seizures of infancy ?,"Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay. The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent. Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become ""floppy."" If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills. Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.",GHR,malignant migrating partial seizures of infancy +How many people are affected by malignant migrating partial seizures of infancy ?,"MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature.",GHR,malignant migrating partial seizures of infancy +What are the genetic changes related to malignant migrating partial seizures of infancy ?,"The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition. The KCNT1 gene provides instructions for making a protein that forms potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. Channels made with the KCNT1 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. This flow of ions is involved in generating currents to activate (excite) neurons and send signals in the brain. KCNT1 gene mutations alter the KCNT1 protein. Electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, which allows unregulated excitation of neurons in the brain. Seizures develop when neurons in the brain are abnormally excited. It is unclear why seizure activity can migrate in MMPSI. Repeated seizures in affected individuals contribute to the developmental delay that is characteristic of this condition.",GHR,malignant migrating partial seizures of infancy +Is malignant migrating partial seizures of infancy inherited ?,MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).,GHR,malignant migrating partial seizures of infancy +What are the treatments for malignant migrating partial seizures of infancy ?,These resources address the diagnosis or management of malignant migrating partial seizures of infancy: - Genetic Testing Registry: Early infantile epileptic encephalopathy 14 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,malignant migrating partial seizures of infancy +What is (are) prothrombin thrombophilia ?,"Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. Most people with prothrombin thrombophilia never develop abnormal blood clots, however. Some research suggests that prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.",GHR,prothrombin thrombophilia +How many people are affected by prothrombin thrombophilia ?,"Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people in the white population in the United States and Europe has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one percent of African American, Native American, or Asian populations.",GHR,prothrombin thrombophilia +What are the genetic changes related to prothrombin thrombophilia ?,"Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. The particular mutation that causes prothrombin thrombophilia results in an overactive F2 gene that causes too much prothrombin to be produced. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots. Other factors also increase the risk of blood clots in people with prothrombin thrombophilia. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of prothrombin thrombophilia and mutations in other genes involved in blood clotting can also influence risk.",GHR,prothrombin thrombophilia +Is prothrombin thrombophilia inherited ?,"The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene mutation increases that risk to 2 to 3 in 1,000. People who inherit two copies of the mutation, one from each parent, may have a risk as high as 20 in 1,000.",GHR,prothrombin thrombophilia +What are the treatments for prothrombin thrombophilia ?,These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,prothrombin thrombophilia +What is (are) malonyl-CoA decarboxylase deficiency ?,"Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.",GHR,malonyl-CoA decarboxylase deficiency +How many people are affected by malonyl-CoA decarboxylase deficiency ?,This condition is very rare; fewer than 30 cases have been reported.,GHR,malonyl-CoA decarboxylase deficiency +What are the genetic changes related to malonyl-CoA decarboxylase deficiency ?,"Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fatty acids as a major source of energy. Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A shortage of this enzyme disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder including low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.",GHR,malonyl-CoA decarboxylase deficiency +Is malonyl-CoA decarboxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,malonyl-CoA decarboxylase deficiency +What are the treatments for malonyl-CoA decarboxylase deficiency ?,These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,malonyl-CoA decarboxylase deficiency +What is (are) gray platelet syndrome ?,"Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals. A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).",GHR,gray platelet syndrome +How many people are affected by gray platelet syndrome ?,Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.,GHR,gray platelet syndrome +What are the genetic changes related to gray platelet syndrome ?,"Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing. In response to an injury that causes bleeding, the proteins stored in alpha-granules help platelets stick to one another to form a plug that seals off damaged blood vessels and prevents further blood loss. Mutations in the NBEAL2 gene disrupt the normal production of alpha-granules. Without alpha-granules, platelets are unusually large and fewer in number than usual (macrothrombocytopenia). The abnormal platelets also appear gray when viewed under a microscope, which gives this condition its name. A lack of alpha-granules impairs the normal activity of platelets during blood clotting, increasing the risk of abnormal bleeding. Myelofibrosis is thought to occur because the growth factors and other proteins that are normally packaged into alpha-granules leak out into the bone marrow. The proteins lead to fibrosis that affects the bone marrow's ability to make new blood cells. Some people with gray platelet syndrome do not have an identified mutation in the NBEAL2 gene. In these individuals, the cause of the condition is unknown.",GHR,gray platelet syndrome +Is gray platelet syndrome inherited ?,"When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene in each cell. Gray platelet syndrome can also be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person often inherits the condition from one affected parent. Researchers are working to determine which gene or genes are associated with the autosomal dominant form of gray platelet syndrome.",GHR,gray platelet syndrome +What are the treatments for gray platelet syndrome ?,These resources address the diagnosis or management of gray platelet syndrome: - Genetic Testing Registry: Gray platelet syndrome - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,gray platelet syndrome +What is (are) congenital central hypoventilation syndrome ?,"Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This reaction is impaired in people with CCHS, and they must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this support 24 hours a day, while others need it only at night. Symptoms of CCHS usually become apparent shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Cyanosis is caused by lack of oxygen in the blood. In some milder cases, CCHS may be diagnosed later in life. In addition to the breathing problem, people with this disorder may have difficulty regulating their heart rate and blood pressure, for example in response to exercise or changes in body position. They may have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. They are also at increased risk of developing certain tumors of the nervous system called neuroblastomas, ganglioneuromas, and ganglioneuroblastomas. Some affected individuals develop learning difficulties or other neurological problems, which may be worsened by oxygen deprivation if treatment to support their breathing is not completely effective. Individuals with CCHS usually have eye abnormalities, including a decreased response of the pupils to light. They also have decreased perception of pain, low body temperature, and occasional episodes of profuse sweating. People with CCHS, especially children, may have a characteristic appearance with a short, wide, somewhat flattened face often described as ""box-shaped."" Life expectancy and the extent of any cognitive disabilities depend on the severity of the disorder, timing of the diagnosis, and the success of treatment.",GHR,congenital central hypoventilation syndrome +How many people are affected by congenital central hypoventilation syndrome ?,"CCHS is a relatively rare disorder. Approximately 1,000 individuals with this condition have been identified. Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS.",GHR,congenital central hypoventilation syndrome +What are the genetic changes related to congenital central hypoventilation syndrome ?,"Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types. Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous system, resulting in the problems regulating breathing and other body functions that occur in CCHS.",GHR,congenital central hypoventilation syndrome +Is congenital central hypoventilation syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occasionally an affected person inherits the mutation from one affected parent. The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood. About 5 to 10 percent of affected individuals inherit the mutation from a seemingly unaffected parent with somatic mosaicism. Somatic mosaicism means that some of the body's cells have a PHOX2B gene mutation, and others do not. A parent with mosaicism for a PHOX2B gene mutation may not show any signs or symptoms of CCHS.",GHR,congenital central hypoventilation syndrome +What are the treatments for congenital central hypoventilation syndrome ?,These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital central hypoventilation syndrome +What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ?,"MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, affected children develop liver cancer. After the onset of liver disease, many affected infants develop neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. In this population, the condition is known as Navajo neurohepatopathy. People with Navajo neurohepatopathy tend to have a longer life expectancy than those with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the signs and symptoms described above, people with Navajo neurohepatopathy may have problems with sensing pain that can lead to painless bone fractures and self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy may lack feeling in the clear front covering of the eye (corneal anesthesia), which can lead to open sores and scarring on the cornea, resulting in impaired vision. The cause of these additional features is unknown.",GHR,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome +How many people are affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ?,"MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. Approximately 30 cases have been described in the scientific literature, including seven families with Navajo neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns.",GHR,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome +What are the genetic changes related to MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ?,"As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth, division, and death. Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. It is likely that the MPV17 protein is involved in the maintenance of mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells. MPV17 gene mutations that cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome lead to production of a protein with impaired function. One mutation causes all cases of Navajo neurohepatopathy and results in the production of an unstable MPV17 protein that is quickly broken down. A dysfunctional or absent MPV17 protein leads to problems with the maintenance of mtDNA, which can cause a reduction in the amount of mtDNA (known as mitochondrial DNA depletion). Mitochondrial DNA depletion impairs mitochondrial function in many of the body's cells and tissues, particularly the brain, liver, and other tissues that have high energy requirements. Reduced mitochondrial function in the liver and brain lead to the liver failure and neurological dysfunction associated with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Researchers suggest that the less mtDNA that is available in cells, the more severe the features of Navajo neurohepatopathy.",GHR,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome +Is MPV17-related hepatocerebral mitochondrial DNA depletion syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome +What are the treatments for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ?,These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome +What is (are) Loeys-Dietz syndrome ?,"Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime in childhood or adulthood, and the severity is variable. Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome can also have aneurysms or dissections in arteries throughout the body and have arteries with abnormal twists and turns (arterial tortuosity). Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), an inward- and upward-turning foot (clubfoot), flat feet (pes planus), or elongated limbs with joint deformities called contractures that restrict the movement of certain joints. Degeneration of the discs that separate the bones of the spine (vertebrae), often affecting the neck, is a common finding. Some affected individuals have prominent joint inflammation (osteoarthritis) that commonly affects the knees and the joints of the hands, wrists, and spine. People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after wound healing. The skin is frequently described as translucent, often with stretch marks (striae) and visible underlying veins. Other characteristic features include widely spaced eyes (hypertelorism), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and an opening in the roof of the mouth (cleft palate). Individuals with Loeys-Dietz syndrome frequently develop immune system-related problems such as food allergies, asthma, or inflammatory disorders such as eczema or inflammatory bowel disease.",GHR,Loeys-Dietz syndrome +How many people are affected by Loeys-Dietz syndrome ?,The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms.,GHR,Loeys-Dietz syndrome +What are the genetic changes related to Loeys-Dietz syndrome ?,"The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes growth and development of the body's tissues. This signaling pathway also helps with bone and blood vessel development and plays a part in the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells. Mutations in the TGFBR1, TGFBR2, TGFB2, and SMAD3 genes result in the production of proteins with little or no function. Even though these proteins have severely reduced function, cell signaling occurs at an even greater intensity than normal. Researchers speculate that the activity of proteins in this signaling pathway is increased to compensate for the protein whose function is reduced; however, the exact mechanism responsible for the increase in signaling is unclear. The overactive signaling pathway disrupts the development of connective tissue, the extracellular matrix, and various body systems, leading to the varied signs and symptoms of Loeys-Dietz syndrome.",GHR,Loeys-Dietz syndrome +Is Loeys-Dietz syndrome inherited ?,"Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.",GHR,Loeys-Dietz syndrome +What are the treatments for Loeys-Dietz syndrome ?,These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: Loeys-Dietz syndrome 2 - Genetic Testing Registry: Loeys-Dietz syndrome 3 - Genetic Testing Registry: Loeys-Dietz syndrome 4 - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Aortic Dissection - National Heart Lung and Blood Institute: How Is an Aneurysm Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Loeys-Dietz syndrome +What is (are) N-acetylglutamate synthase deficiency ?,"N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synthase deficiency may become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability. In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency are less severe, and do not appear until later in life. Some people with this form of the disorder cannot tolerate high-protein foods such as meat. They may experience sudden episodes of ammonia toxicity, resulting in vomiting, lack of coordination, confusion or coma, in response to illness or other stress.",GHR,N-acetylglutamate synthase deficiency +How many people are affected by N-acetylglutamate synthase deficiency ?,"N-acetylglutamate synthase deficiency is a very rare disorder. Only a few cases have been reported worldwide, and the overall incidence is unknown.",GHR,N-acetylglutamate synthase deficiency +What are the genetic changes related to N-acetylglutamate synthase deficiency ?,"Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase, which helps produce a compound called N-acetylglutamate. This compound is needed to activate another enzyme, carbamoyl phosphate synthetase I, which controls the first step of the urea cycle. In people with N-acetylglutamate synthase deficiency, N-acetylglutamate is not available in sufficient quantities, or is not present at all. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. This accumulation of ammonia causes the neurological problems and other signs and symptoms of N-acetylglutamate synthase deficiency.",GHR,N-acetylglutamate synthase deficiency +Is N-acetylglutamate synthase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,N-acetylglutamate synthase deficiency +What are the treatments for N-acetylglutamate synthase deficiency ?,"These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,N-acetylglutamate synthase deficiency +What is (are) desmosterolosis ?,"Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individuals are able to walk with support; verbal communication is often limited to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that connects the left and right halves of the brain (the corpus callosum) and loss of white matter, which consists of nerve fibers covered by a fatty substance called myelin. People with desmosterolosis commonly have muscle stiffness (spasticity) and stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other features seen in some affected individuals include short stature, abnormal head size (either larger or smaller than normal), a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus), heart defects, and seizures.",GHR,desmosterolosis +How many people are affected by desmosterolosis ?,The prevalence of desmosterolosis is unknown; at least 10 affected individuals have been described in the scientific literature.,GHR,desmosterolosis +What are the genetic changes related to desmosterolosis ?,"Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It can also be produced in various tissues in the body. For example, the brain cannot access the cholesterol that comes from food, so brain cells must produce their own. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. DHCR24 gene mutations lead to the production of 24-dehydrocholesterol reductase with reduced activity. As a result, there is a decrease in cholesterol production. Because the brain relies solely on cellular production for cholesterol, it is most severely affected. Without adequate cholesterol, cell membranes are not formed properly and nerve cells are not protected by myelin, leading to the death of these cells. In addition, a decrease in cholesterol production has more severe effects before birth than during other periods of development because of the rapid increase in cell number that takes place. Disruption of normal cell formation before birth likely accounts for the additional developmental abnormalities of desmosterolosis.",GHR,desmosterolosis +Is desmosterolosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,desmosterolosis +What are the treatments for desmosterolosis ?,These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,desmosterolosis +What is (are) 5-alpha reductase deficiency ?,"5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency are born with external genitalia that appear female. In other cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). During puberty, people with this condition develop some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike many men, people with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected males are unable to father a child (infertile). Children with 5-alpha reductase deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.",GHR,5-alpha reductase deficiency +How many people are affected by 5-alpha reductase deficiency ?,"5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt.",GHR,5-alpha reductase deficiency +What are the genetic changes related to 5-alpha reductase deficiency ?,"Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of male sex characteristics before birth, particularly the formation of the external genitalia. Mutations in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency. During puberty, the testes produce more testosterone. Researchers believe that people with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty.",GHR,5-alpha reductase deficiency +Is 5-alpha reductase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the SRD5A2 gene, their sexual development is not affected. The development of female sex characteristics does not require DHT, so a lack of steroid 5-alpha reductase 2 activity does not cause physical changes in these individuals. Only people who have mutations in both copies of the SRD5A2 gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of 5-alpha reductase deficiency.",GHR,5-alpha reductase deficiency +What are the treatments for 5-alpha reductase deficiency ?,These resources address the diagnosis or management of 5-alpha reductase deficiency: - Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,5-alpha reductase deficiency +What is (are) trisomy 13 ?,"Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.",GHR,trisomy 13 +How many people are affected by trisomy 13 ?,"Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.",GHR,trisomy 13 +What are the genetic changes related to trisomy 13 ?,"Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13. A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.",GHR,trisomy 13 +Is trisomy 13 inherited ?,"Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body. Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to their children.",GHR,trisomy 13 +What are the treatments for trisomy 13 ?,These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,trisomy 13 +What is (are) cone-rod dystrophy ?,"Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.",GHR,cone-rod dystrophy +How many people are affected by cone-rod dystrophy ?,"Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.",GHR,cone-rod dystrophy +What are the genetic changes related to cone-rod dystrophy ?,"Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare. The genes associated with cone-rod dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. The retina contains two types of photoreceptors, rods and cones. Rods are needed for vision in low light, while cones provide vision in bright light, including color vision. Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy. Cones typically break down before rods, which is why sensitivity to light and impaired color vision are usually the first signs of the disorder. (The order of cell breakdown is also reflected in the condition name.) Night vision is disrupted later, as rods are lost. Some of the genes associated with cone-rod dystrophy are also associated with other eye diseases, including a group of related eye disorders called rod-cone dystrophy. Rod-cone dystrophy has signs and symptoms similar to those of cone-rod dystrophy. However, rod-cone dystrophy is characterized by deterioration of the rods first, followed by the cones, so night vision is affected before daylight and color vision. The most common form of rod-cone dystrophy is a condition called retinitis pigmentosa.",GHR,cone-rod dystrophy +Is cone-rod dystrophy inherited ?,"Cone-rod dystrophy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less frequently, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition. Rarely, cone-rod dystrophy is inherited in an X-linked recessive pattern. The genes associated with this form of the condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with one copy of the altered gene have mild vision problems, such as decreased visual acuity. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,cone-rod dystrophy +What are the treatments for cone-rod dystrophy ?,"These resources address the diagnosis or management of cone-rod dystrophy: - Cleveland Clinic: Eye Examinations: What to Expect - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED - Genetic Testing Registry: Cone-rod dystrophy - Genetic Testing Registry: Cone-rod dystrophy 1 - Genetic Testing Registry: Cone-rod dystrophy 10 - Genetic Testing Registry: Cone-rod dystrophy 11 - Genetic Testing Registry: Cone-rod dystrophy 12 - Genetic Testing Registry: Cone-rod dystrophy 13 - Genetic Testing Registry: Cone-rod dystrophy 15 - Genetic Testing Registry: Cone-rod dystrophy 16 - Genetic Testing Registry: Cone-rod dystrophy 17 - Genetic Testing Registry: Cone-rod dystrophy 18 - Genetic Testing Registry: Cone-rod dystrophy 19 - Genetic Testing Registry: Cone-rod dystrophy 2 - Genetic Testing Registry: Cone-rod dystrophy 20 - Genetic Testing Registry: Cone-rod dystrophy 21 - Genetic Testing Registry: Cone-rod dystrophy 3 - Genetic Testing Registry: Cone-rod dystrophy 5 - Genetic Testing Registry: Cone-rod dystrophy 6 - Genetic Testing Registry: Cone-rod dystrophy 7 - Genetic Testing Registry: Cone-rod dystrophy 8 - Genetic Testing Registry: Cone-rod dystrophy 9 - Genetic Testing Registry: Cone-rod dystrophy X-linked 3 - Genetic Testing Registry: Cone-rod dystrophy, X-linked 1 - MedlinePlus Encyclopedia: Color Vision Test - MedlinePlus Encyclopedia: Visual Acuity Test - MedlinePlus Encyclopedia: Visual Field Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cone-rod dystrophy +What is (are) 8p11 myeloproliferative syndrome ?,"8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer. The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia). In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later. In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia. The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.",GHR,8p11 myeloproliferative syndrome +How many people are affected by 8p11 myeloproliferative syndrome ?,The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.,GHR,8p11 myeloproliferative syndrome +What are the genetic changes related to 8p11 myeloproliferative syndrome ?,"8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of part of the FGFR1 gene with part of another gene; the most common partner gene is ZMYM2 on chromosome 13. These genetic changes are found only in cancer cells. The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer. Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.",GHR,8p11 myeloproliferative syndrome +Is 8p11 myeloproliferative syndrome inherited ?,This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation.,GHR,8p11 myeloproliferative syndrome +What are the treatments for 8p11 myeloproliferative syndrome ?,These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options - Genetic Testing Registry: Chromosome 8p11 myeloproliferative syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,8p11 myeloproliferative syndrome +What is (are) microcephaly-capillary malformation syndrome ?,"Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. Affected individuals develop seizures that can occur many times per day and are difficult to treat (intractable epilepsy). The problems with brain development and epilepsy lead to profound developmental delay and intellectual impairment. Most affected individuals do not develop skills beyond those of a 1- or 2-month-old infant. For example, most children with this condition are never able to control their head movements or sit unassisted. Capillary malformations are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like pink or red spots on the skin. People with microcephaly-capillary malformation syndrome are born with anywhere from a few to hundreds of these spots, which can occur anywhere on the body. The spots are usually round or oval-shaped and range in size from the head of a pin to a large coin. Other signs and symptoms of microcephaly-capillary malformation syndrome include abnormal movements, feeding difficulties, slow growth, and short stature. Most affected individuals have abnormalities of the fingers and toes, including digits with tapered ends and abnormally small or missing fingernails and toenails. Some affected children also have distinctive facial features and an unusual pattern of hair growth on the scalp.",GHR,microcephaly-capillary malformation syndrome +How many people are affected by microcephaly-capillary malformation syndrome ?,Microcephaly-capillary malformation syndrome is rare. About a dozen people have been diagnosed with the disorder.,GHR,microcephaly-capillary malformation syndrome +What are the genetic changes related to microcephaly-capillary malformation syndrome ?,"Microcephaly-capillary malformation syndrome results from mutations in the STAMBP gene. This gene provides instructions for making a protein called STAM binding protein. This protein plays a role in sorting damaged or unneeded proteins so they can be transported from the cell surface to specialized cell compartments that break down (degrade) or recycle them. This process helps to maintain the proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies suggest that STAM binding protein is also involved in multiple chemical signaling pathways within cells, including pathways needed for overall growth and the formation of new blood vessels (angiogenesis). Mutations in the STAMBP gene reduce or eliminate the production of STAM binding protein. This shortage allows damaged or unneeded proteins to build up inside cells instead of being degraded or recycled, which may damage cells and cause them to self-destruct (undergo apoptosis). Researchers suspect that abnormal apoptosis of brain cells starting before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. A lack of STAM binding protein also alters multiple signaling pathways that are necessary for normal development, which may underlie the capillary malformations and other signs and symptoms of the condition.",GHR,microcephaly-capillary malformation syndrome +Is microcephaly-capillary malformation syndrome inherited ?,"This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.",GHR,microcephaly-capillary malformation syndrome +What are the treatments for microcephaly-capillary malformation syndrome ?,These resources address the diagnosis or management of microcephaly-capillary malformation syndrome: - Gene Review: Gene Review: Microcephaly-Capillary Malformation Syndrome - Genetic Testing Registry: Microcephaly-capillary malformation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,microcephaly-capillary malformation syndrome +What is (are) idiopathic inflammatory myopathy ?,"Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue). There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Polymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult. Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis). In sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.",GHR,idiopathic inflammatory myopathy +How many people are affected by idiopathic inflammatory myopathy ?,"The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men.",GHR,idiopathic inflammatory myopathy +What are the genetic changes related to idiopathic inflammatory myopathy ?,"Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term ""idiopathic"" indicates that the specific cause of the disorder is unknown. Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myopathy. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to affect the risk of developing idiopathic inflammatory myopathy. Researchers are studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing idiopathic inflammatory myopathy. It is likely that specific genetic variations increase a person's risk of developing idiopathic inflammatory myopathy, and then exposure to certain environmental factors triggers the disorder. Infection, exposure to certain medications, and exposure to ultraviolet light (such as sunlight) have been identified as possible environmental triggers, but most risk factors for this condition remain unknown.",GHR,idiopathic inflammatory myopathy +Is idiopathic inflammatory myopathy inherited ?,"Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions and attacks the body's tissues and organs. A small percentage of all cases of idiopathic inflammatory myopathy have been reported to run in families; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with idiopathic inflammatory myopathy does not mean that a person will develop the condition.",GHR,idiopathic inflammatory myopathy +What are the treatments for idiopathic inflammatory myopathy ?,These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myositis Center: Treatment - Muscular Dystrophy Association: Facts about Inflammatory Myopathies (Myositis) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,idiopathic inflammatory myopathy +What is (are) bladder cancer ?,"Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC). Bladder cancer may cause blood in the urine, pain during urination, frequent urination, or the feeling that one needs to urinate without results. These signs and symptoms are not specific to bladder cancer, however. They also can be caused by noncancerous conditions such as infections.",GHR,bladder cancer +How many people are affected by bladder cancer ?,"In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year.",GHR,bladder cancer +What are the genetic changes related to bladder cancer ?,"As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection called schistosomiasis, and some medications used to treat cancer are other environmental risk factors associated with bladder cancer. Genetic factors are also likely to play an important role in determining bladder cancer risk. Researchers have studied the effects of mutations in several genes, including FGFR3, RB1, HRAS, TP53, and TSC1, on the formation and growth of bladder tumors. Each of these genes plays a critical role in regulating cell division by preventing cells from dividing too rapidly or in an uncontrolled way. Alterations in these genes may help explain why some bladder cancers grow and spread more rapidly than others. Deletions of part or all of chromosome 9 are common events in bladder tumors. Researchers believe that several genes that control cell growth and division are probably located on chromosome 9. They are working to determine whether a loss of these genes plays a role in the development and progression of bladder cancer. Most of the genetic changes associated with bladder cancer develop in bladder tissue during a person's lifetime, rather than being inherited from a parent. Some people, however, appear to inherit a reduced ability to break down certain chemicals, which makes them more sensitive to the cancer-causing effects of tobacco smoke and industrial chemicals.",GHR,bladder cancer +Is bladder cancer inherited ?,"Bladder cancer is typically not inherited. Most often, tumors result from genetic mutations that occur in bladder cells during a person's lifetime. These noninherited genetic changes are called somatic mutations.",GHR,bladder cancer +What are the treatments for bladder cancer ?,These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,bladder cancer +What is (are) Langer-Giedion syndrome ?,"Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.",GHR,Langer-Giedion syndrome +How many people are affected by Langer-Giedion syndrome ?,Langer-Giedion syndrome is a rare condition; its incidence is unknown.,GHR,Langer-Giedion syndrome +What are the genetic changes related to Langer-Giedion syndrome ?,"Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition. Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.",GHR,Langer-Giedion syndrome +Is Langer-Giedion syndrome inherited ?,"Most cases of Langer-Giedion syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. There have been very few instances in which people with Langer-Giedion syndrome have inherited the chromosomal deletion from a parent with the condition. Langer-Giedion syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 8 in each cell is sufficient to cause the disorder.",GHR,Langer-Giedion syndrome +What are the treatments for Langer-Giedion syndrome ?,These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Langer-Giedion syndrome +What is (are) FG syndrome ?,"FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. ""FG"" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker. The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures). Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).",GHR,FG syndrome +How many people are affected by FG syndrome ?,"The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders.",GHR,FG syndrome +What are the genetic changes related to FG syndrome ?,"Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome. The MED12 gene provides instructions for making a protein that helps regulate gene activity. Specifically, the MED12 protein forms part of a large complex (a group of proteins that work together) that turns genes on and off. The MED12 protein is thought to play an essential role in development both before and after birth. At least two mutations in the MED12 gene have been found to cause FG syndrome. Although the mutations alter the structure of the MED12 protein, it is unclear how they lead to intellectual disability, behavioral changes, and the physical features associated with this condition.",GHR,FG syndrome +Is FG syndrome inherited ?,"FG syndrome is inherited in an X-linked recessive pattern. The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually must occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of a gene on the X chromosome, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,FG syndrome +What are the treatments for FG syndrome ?,These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Genetic Testing Registry: FG syndrome 4 - Genetic Testing Registry: FG syndrome 5 - MedlinePlus Encyclopedia: Corpus Callosum of the Brain (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,FG syndrome +What is (are) Schwartz-Jampel syndrome ?,"Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely. Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, ""mask-like"" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm). Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement. Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.",GHR,Schwartz-Jampel syndrome +How many people are affected by Schwartz-Jampel syndrome ?,Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature.,GHR,Schwartz-Jampel syndrome +What are the genetic changes related to Schwartz-Jampel syndrome ?,"Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Perlecan has multiple functions, including cell signaling and the normal maintenance of basement membranes and cartilage. The protein also plays a critical role at the neuromuscular junction, which is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle contraction. The mutations that cause Schwartz-Jampel syndrome reduce the amount of perlecan that is produced or lead to a version of perlecan that is only partially functional. A reduction in the amount or function of this protein disrupts the normal development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A reduced amount of functional perlecan at the neuromuscular junction likely alters the balance of other molecules that signal when muscles should contract and when they should relax. As a result, muscle contraction is triggered continuously, leading to myotonia.",GHR,Schwartz-Jampel syndrome +Is Schwartz-Jampel syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Schwartz-Jampel syndrome +What are the treatments for Schwartz-Jampel syndrome ?,These resources address the diagnosis or management of Schwartz-Jampel syndrome: - Genetic Testing Registry: Schwartz Jampel syndrome type 1 - National Institute of Neurological Disorders and Stroke: Myotonia Information Page These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Schwartz-Jampel syndrome +What is (are) Asperger syndrome ?,"Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or ""high-functioning,"" end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships. People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation. Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics. People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights. Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome. Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.",GHR,Asperger syndrome +How many people are affected by Asperger syndrome ?,"The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females. Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and the prevalence is often perceived to be rising as more people are recognized to have features of the condition. Many mildly affected individuals likely continue to be undiagnosed.",GHR,Asperger syndrome +What are the genetic changes related to Asperger syndrome ?,"While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic variations and environmental factors influence the development of this complex condition. Asperger syndrome is a disorder of brain development. Researchers have identified differences in the structure and function of specific regions of the brain between children with Asperger syndrome and unaffected children. These differences likely arise during development before birth, when cells in the brain are migrating to their proper places. The differences in brain development that occur in Asperger syndrome appear to affect areas of the brain involved in thought, behavior, and emotions, such as the prefrontal cortex, the amygdala, and the fusiform face area. In particular, cognitive functions called theory of mind, central coherence, and executive function are affected. Theory of mind is the ability to understand that other people have their own ideas, emotions, and perceptions, and to empathize with them. It is related to the proper functioning of a brain mechanism called the mirror neuron system, which is normally active both when certain actions are performed and when others are observed performing the same actions. Researchers believe that the mirror neuron system is impaired in people with Asperger syndrome. Central coherence is the ability to integrate individual perceptions into a larger context, commonly known as ""seeing the big picture."" For example, a person with Asperger syndrome may be able to describe individual trees in great detail without recognizing that they are part of a forest. Executive function is the ability to plan and implement actions and develop problem-solving strategies. This function includes skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. People with deficits in these skills may have difficulty in some activities of daily living and in social interactions. The differences in cognitive functioning observed in people with Asperger syndrome are believed to give rise to the behavioral patterns characteristic of this condition.",GHR,Asperger syndrome +Is Asperger syndrome inherited ?,"Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown.",GHR,Asperger syndrome +What are the treatments for Asperger syndrome ?,These resources address the diagnosis or management of Asperger syndrome: - Genetic Testing Registry: Asperger syndrome 1 - Genetic Testing Registry: Asperger syndrome 2 - Genetic Testing Registry: Asperger syndrome 3 - Genetic Testing Registry: Asperger syndrome 4 - Genetic Testing Registry: Asperger syndrome X-linked 1 - Genetic Testing Registry: Asperger syndrome X-linked 2 - Genetic Testing Registry: Asperger's disorder - MedlinePlus Encyclopedia: Asperger Syndrome - National Institute of Mental Health: How is ASD treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Asperger syndrome +What is (are) mucopolysaccharidosis type IV ?,"Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals. The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck (cervical vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical vertebrae, which may compress and damage the spinal cord, resulting in paralysis or death. In people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other common features of this condition include mildly ""coarse"" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence. The life expectancy of individuals with MPS IV depends on the severity of symptoms. Severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV.",GHR,mucopolysaccharidosis type IV +How many people are affected by mucopolysaccharidosis type IV ?,"The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals.",GHR,mucopolysaccharidosis type IV +What are the genetic changes related to mucopolysaccharidosis type IV ?,"Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations in the GALNS gene it is called MPS IV type A (MPS IVA), and when it is caused by mutations in the GLB1 gene it is called MPS IV type B (MPS IVB). In general, the two types of MPS IV cannot be distinguished by their signs and symptoms. Mutations in the GALNS and GLB1 genes reduce or completely eliminate the activity of the enzymes produced from these genes. Without these enzymes, GAGs accumulate within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that break down and recycle different types of molecules. Conditions such as MPS IV that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels in many tissues and organs, particularly in the bones. The accumulation of GAGs causes the bone deformities in this disorder. Researchers believe that the buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell.",GHR,mucopolysaccharidosis type IV +Is mucopolysaccharidosis type IV inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucopolysaccharidosis type IV +What are the treatments for mucopolysaccharidosis type IV ?,"These resources address the diagnosis or management of mucopolysaccharidosis type IV: - Genetic Testing Registry: Morquio syndrome - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B - MedlinePlus Encyclopedia: Morquio syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,mucopolysaccharidosis type IV +What is (are) juvenile primary lateral sclerosis ?,"Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.",GHR,juvenile primary lateral sclerosis +How many people are affected by juvenile primary lateral sclerosis ?,"Juvenile primary lateral sclerosis is a rare disorder, with few reported cases.",GHR,juvenile primary lateral sclerosis +What are the genetic changes related to juvenile primary lateral sclerosis ?,"Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.",GHR,juvenile primary lateral sclerosis +Is juvenile primary lateral sclerosis inherited ?,"When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,juvenile primary lateral sclerosis +What are the treatments for juvenile primary lateral sclerosis ?,These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,juvenile primary lateral sclerosis +What is (are) spinal muscular atrophy ?,"Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy distinguished by the pattern of features, severity of muscle weakness, and age when the muscle problems begin. Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe form of the disorder that is evident at birth or within the first few months of life. Affected infants are developmentally delayed; most are unable to support their head or sit unassisted. Children with this type have breathing and swallowing problems that may lead to choking or gagging. Type II spinal muscular atrophy is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with type II can sit without support, although they may need help getting to a seated position. Individuals with this type of spinal muscular atrophy cannot stand or walk unaided. Type III spinal muscular atrophy (also called Kugelberg-Welander disease or juvenile type) has milder features that typically develop between early childhood and adolescence. Individuals with type III spinal muscular atrophy can stand and walk unaided, but walking and climbing stairs may become increasingly difficult. Many affected individuals will require wheelchair assistance later in life. The signs and symptoms of type IV spinal muscular atrophy often occur after age 30. Affected individuals usually experience mild to moderate muscle weakness, tremor, twitching, or mild breathing problems. Typically, only muscles close to the center of the body (proximal muscles), such as the upper arms and legs, are affected in type IV spinal muscular atrophy. The features of X-linked spinal muscular atrophy appear in infancy and include severe muscle weakness and difficulty breathing. Children with this type often have joint deformities (contractures) that impair movement. In severe cases, affected infants are born with broken bones. Poor muscle tone before birth may contribute to the contractures and broken bones seen in these children. Spinal muscular atrophy, lower extremity, dominant (SMA-LED) is characterized by leg muscle weakness that is most severe in the thigh muscles (quadriceps). This weakness begins in infancy or early childhood and progresses slowly. Affected individuals often have a waddling or unsteady walk and have difficulty rising from a seated position and climbing stairs. An adult-onset form of spinal muscular atrophy that begins in early to mid-adulthood affects the proximal muscles and is characterized by muscle cramping of the limbs and abdomen, weakness in the leg muscles, involuntary muscle contractions, tremors, and a protrusion of the abdomen thought to be related to muscle weakness. Some affected individuals experience difficulty swallowing and problems with bladder and bowel function.",GHR,spinal muscular atrophy +How many people are affected by spinal muscular atrophy ?,"Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.",GHR,spinal muscular atrophy +What are the genetic changes related to spinal muscular atrophy ?,"Mutations in the SMN1, UBA1, DYNC1H1, and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. The SMN1 and SMN2 genes provide instructions for making a protein called the survival motor neuron (SMN) protein. The SMN protein is important for the maintenance of specialized nerve cells called motor neurons. Motor neurons are located in the spinal cord and the brainstem; they control muscle movement. Most functional SMN protein is produced from the SMN1 gene, with a small amount produced from the SMN2 gene. Several different versions of the SMN protein are produced from the SMN2 gene, but only one version is full size and functional. Mutations in the SMN1 gene cause spinal muscular atrophy types I, II, III, and IV. SMN1 gene mutations lead to a shortage of the SMN protein. Without SMN protein, motor neurons die, and nerve impulses are not passed between the brain and muscles. As a result, some muscles cannot perform their normal functions, leading to weakness and impaired movement. Some people with type II, III, or IV spinal muscular atrophy have three or more copies of the SMN2 gene in each cell. Having multiple copies of the SMN2 gene can modify the course of spinal muscular atrophy. The additional SMN proteins produced from the extra copies of the SMN2 gene can help replace some of the SMN protein that is lost due to mutations in the SMN1 gene. In general, symptoms are less severe and begin later in life as the number of copies of the SMN2 gene increases. Mutations in the UBA1 gene cause X-linked spinal muscular atrophy. The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is involved in a process that targets proteins to be broken down (degraded) within cells. UBA1 gene mutations lead to reduced or absent levels of functional enzyme, which disrupts the process of protein degradation. A buildup of proteins in the cell can cause it to die; motor neurons are particularly susceptible to damage from protein buildup. The DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm), where it is part of a network that moves proteins and other materials. In neurons, dynein moves cellular materials away from the junctions between neurons (synapses) to the center of the cell. This process helps transmit chemical messages from one neuron to another. DYNC1H1 gene mutations that cause SMA-LED disrupt the function of the dynein complex. As a result, the movement of proteins, cellular structures, and other materials within cells are impaired. A decrease in chemical messaging between neurons that control muscle movement is thought to contribute to the muscle weakness experienced by people with SMA-LED. It is unclear why this condition affects only the lower extremities. The adult-onset form of spinal muscular atrophy is caused by a mutation in the VAPB gene. The VAPB gene provides instructions for making a protein that is found in cells throughout the body. Researchers suggest that this protein may play a role in preventing the buildup of unfolded or misfolded proteins within cells. It is unclear how a VAPB gene mutation leads to the loss of motor neurons. An impaired VAPB protein might cause misfolded and unfolded proteins to accumulate and impair the normal function of motor neurons. Other types of spinal muscular atrophy that primarily affect the lower legs and feet and the lower arms and hands are caused by the dysfunction of neurons in the spinal cord. When spinal muscular atrophy shows this pattern of signs and symptoms, it is also known as distal hereditary motor neuropathy. The various types of this condition are caused by mutations in other genes.",GHR,spinal muscular atrophy +Is spinal muscular atrophy inherited ?,"Types I, II, III, and IV spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the SMN1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Extra copies of the SMN2 gene are due to a random error when making new copies of DNA (replication) in an egg or sperm cell or just after fertilization. SMA-LED and the late-onset form of spinal muscular atrophy caused by VAPB gene mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. X-linked spinal muscular atrophy is inherited in an X-linked pattern. The UBA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,spinal muscular atrophy +What are the treatments for spinal muscular atrophy ?,"These resources address the diagnosis or management of spinal muscular atrophy: - Gene Review: Gene Review: Spinal Muscular Atrophy - Gene Review: Gene Review: Spinal Muscular Atrophy, X-Linked Infantile - Genetic Testing Registry: Adult proximal spinal muscular atrophy, autosomal dominant - Genetic Testing Registry: Arthrogryposis multiplex congenita, distal, X-linked - Genetic Testing Registry: Kugelberg-Welander disease - Genetic Testing Registry: Spinal muscular atrophy type 4 - Genetic Testing Registry: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant - Genetic Testing Registry: Spinal muscular atrophy, type II - Genetic Testing Registry: Werdnig-Hoffmann disease - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Spinal Muscular Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spinal muscular atrophy +What is (are) hereditary diffuse gastric cancer ?,"Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones. Symptoms of diffuse gastric cancer occur late in the disease and can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer metastasizes to other tissues, it may lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under the skin, or broken bones. In HDGC, gastric cancer usually occurs in a person's late thirties or early forties, although it can develop anytime during adulthood. If diffuse gastric cancer is detected early, the survival rate is high; however, because this type of cancer is hidden underneath the stomach lining, it is usually not diagnosed until the cancer has become widely invasive. At that stage of the disease, the survival rate is approximately 20 percent. Some people with HDGC have an increased risk of developing other types of cancer, such as a form of breast cancer in women that begins in the milk-producing glands (lobular breast cancer); prostate cancer; and cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. Most people with HDGC have family members who have had one of the types of cancer associated with HDGC. In some families, all the affected members have diffuse gastric cancer. In other families, some affected members have diffuse gastric cancer and others have another associated form of cancer, such as lobular breast cancer. Frequently, HDGC-related cancers develop in individuals before the age of 50.",GHR,hereditary diffuse gastric cancer +How many people are affected by hereditary diffuse gastric cancer ?,"Gastric cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year. HDGC probably accounts for less than 1 percent of these cases.",GHR,hereditary diffuse gastric cancer +What are the genetic changes related to hereditary diffuse gastric cancer ?,"It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. E-cadherin helps neighboring cells stick to one another (cell adhesion) to form organized tissues. E-cadherin has many other functions including acting as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. People with HDGC caused by CDH1 gene mutations are born with one mutated copy of the gene in each cell. These mutations cause the production of an abnormally short, nonfunctional version of E-cadherin or alter the protein's structure. For diffuse gastric cancer to develop, a second mutation involving the other copy of the CDH1 gene must occur in the cells of the stomach lining during a person's lifetime. People who are born with one mutated copy of the CDH1 gene have a 80 percent chance of acquiring a second mutation in the other copy of the gene and developing gastric cancer in their lifetimes. When both copies of the CDH1 gene are mutated in a particular cell, that cell cannot produce any functional E-cadherin. The loss of this protein prevents it from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells. A lack of E-cadherin also impairs cell adhesion, increasing the likelihood that cancer cells will not come together to form a tumor but will invade the stomach wall and metastasize as small clusters of cancer cells into nearby tissues. These CDH1 gene mutations also lead to a 40 to 50 percent chance of lobular breast cancer in women, a slightly increased risk of prostate cancer in men, and a slightly increased risk of colorectal cancer. It is unclear why CDH1 gene mutations primarily occur in the stomach lining and these other tissues. About 60 to 70 percent of individuals with HDGC do not have an identified mutation in the CDH1 gene. The cancer-causing mechanism in these individuals is unknown.",GHR,hereditary diffuse gastric cancer +Is hereditary diffuse gastric cancer inherited ?,"HDGC is inherited in an autosomal dominant pattern, which means one copy of the altered CDH1 gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition.",GHR,hereditary diffuse gastric cancer +What are the treatments for hereditary diffuse gastric cancer ?,These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer - Memorial Sloan-Kettering Cancer Center: Early Onset and Familial Gastric Cancer Registry - National Cancer Institute: Gastric Cancer Treatment Option Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary diffuse gastric cancer +What is (are) X-linked infantile spasm syndrome ?,"X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.",GHR,X-linked infantile spasm syndrome +How many people are affected by X-linked infantile spasm syndrome ?,"Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes.",GHR,X-linked infantile spasm syndrome +What are the genetic changes related to X-linked infantile spasm syndrome ?,"X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to regulate the activity of at least one protein that is critical for normal brain function. Researchers are working to determine how mutations in either of these genes lead to seizures and intellectual disability. Infantile spasms can have nongenetic causes, such as brain malformations, other disorders that affect brain function, or brain damage. In addition, changes in genes that are not located on the X chromosome cause infantile spasms in rare cases.",GHR,X-linked infantile spasm syndrome +Is X-linked infantile spasm syndrome inherited ?,"X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause. When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Usually in females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, in some instances, one altered copy of the ARX gene is sufficient because the X chromosome with the normal copy of the ARX gene is turned off through a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Some ARX gene mutations may be associated with skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the ARX gene in most cells of the body. This skewed X-inactivation causes the chromosome with the mutated ARX gene to be expressed in more than half of cells, causing X-linked infantile spasm syndrome. When caused by mutations in the CDKL5 gene, this condition is thought to have an X-linked dominant inheritance pattern. The CDKL5 gene is also located on the X chromosome, making this condition X-linked. The inheritance is dominant because one copy of the altered gene in each cell is sufficient to cause the condition in both males and females. X-linked infantile spasm syndrome caused by CDKL5 gene mutations usually occurs in individuals with no history of the disorder in their family. These mutations likely occur in early embryonic development (called de novo mutations). Because males have only one X chromosome, X-linked dominant disorders are often more severe in males than in females. Male fetuses with CDKL5-related X-linked infantile spasm syndrome may not survive to birth, so more females are diagnosed with the condition. In females, the distribution of active and inactive X chromosomes due to X-inactivation may affect whether a woman develops the condition or the severity of the signs and symptoms. Generally, the larger the proportion of active X chromosomes that contain the mutated CDKL5 gene, the more severe the signs and symptoms of the condition are. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked infantile spasm syndrome +What are the treatments for X-linked infantile spasm syndrome ?,These resources address the diagnosis or management of X-linked infantile spasm syndrome: - Child Neurology Foundation - Genetic Testing Registry: Early infantile epileptic encephalopathy 2 - Genetic Testing Registry: West syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked infantile spasm syndrome +What is (are) tetra-amelia syndrome ?,"Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (""Tetra"" is the Greek word for ""four,"" and ""amelia"" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.",GHR,tetra-amelia syndrome +How many people are affected by tetra-amelia syndrome ?,Tetra-amelia syndrome has been reported in only a few families worldwide.,GHR,tetra-amelia syndrome +What are the genetic changes related to tetra-amelia syndrome ?,"Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.",GHR,tetra-amelia syndrome +Is tetra-amelia syndrome inherited ?,"In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.",GHR,tetra-amelia syndrome +What are the treatments for tetra-amelia syndrome ?,"These resources address the diagnosis or management of tetra-amelia syndrome: - Gene Review: Gene Review: Tetra-Amelia Syndrome - Genetic Testing Registry: Tetraamelia, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,tetra-amelia syndrome +What is (are) X-linked creatine deficiency ?,"X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily. A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).",GHR,X-linked creatine deficiency +How many people are affected by X-linked creatine deficiency ?,The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability.,GHR,X-linked creatine deficiency +What are the genetic changes related to X-linked creatine deficiency ?,"Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.",GHR,X-linked creatine deficiency +Is X-linked creatine deficiency inherited ?,"This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. About half of females with one mutated copy of the SLC6A8 gene in each cell have intellectual disability, learning difficulties, or behavioral problems. Other females with one mutated copy of the SLC6A8 gene in each cell have no noticeable neurological problems.",GHR,X-linked creatine deficiency +What are the treatments for X-linked creatine deficiency ?,"These resources address the diagnosis or management of X-linked creatine deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Creatine deficiency, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked creatine deficiency +What is (are) Schindler disease ?,"Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness and seizures, and eventually they lose awareness of their surroundings and become unresponsive. People with this form of the disorder usually do not survive past early childhood. Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may experience weakness and loss of sensation due to problems with the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are characteristic of this form of the disorder. Schindler disease type III is intermediate in severity between types I and II. Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form of the disorder exhibit behavioral problems beginning in early childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills.",GHR,Schindler disease +How many people are affected by Schindler disease ?,Schindler disease is very rare. Only a few individuals with each type of the disorder have been identified.,GHR,Schindler disease +What are the genetic changes related to Schindler disease ?,"Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycoproteins and glycolipids, which consist of sugar molecules attached to certain proteins and fats. Specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycolipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease.",GHR,Schindler disease +Is Schindler disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Schindler disease +What are the treatments for Schindler disease ?,"These resources address the diagnosis or management of Schindler disease: - Genetic Testing Registry: Kanzaki disease - Genetic Testing Registry: Schindler disease, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Schindler disease +What is (are) propionic acidemia ?,"Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.",GHR,propionic acidemia +How many people are affected by propionic acidemia ?,"Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians.",GHR,propionic acidemia +What are the genetic changes related to propionic acidemia ?,"Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.",GHR,propionic acidemia +Is propionic acidemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,propionic acidemia +What are the treatments for propionic acidemia ?,These resources address the diagnosis or management of propionic acidemia: - Baby's First Test - Gene Review: Gene Review: Propionic Acidemia - Genetic Testing Registry: Propionic acidemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,propionic acidemia +What is (are) 22q13.3 deletion syndrome ?,"22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures. Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.",GHR,22q13.3 deletion syndrome +How many people are affected by 22q13.3 deletion syndrome ?,At least 500 cases of 22q13.3 deletion syndrome are known.,GHR,22q13.3 deletion syndrome +What are the genetic changes related to 22q13.3 deletion syndrome ?,"22q13.3 deletion syndrome is caused by a deletion near the end of the long (q) arm of chromosome 22. The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 22 are lost when the ring chromosome 22 forms. If one of the chromosome break points is at position 22q13.3, people with ring chromosome 22 have similar signs and symptoms as those with a simple deletion. Researchers are working to identify all of the genes that contribute to the features of 22q13.3 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, SHANK3, is likely to be responsible for many of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably contribute to the varied features of 22q13.3 deletion syndrome.",GHR,22q13.3 deletion syndrome +Is 22q13.3 deletion syndrome inherited ?,"Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children. When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of this disorder.",GHR,22q13.3 deletion syndrome +What are the treatments for 22q13.3 deletion syndrome ?,These resources address the diagnosis or management of 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,22q13.3 deletion syndrome +What is (are) Peters plus syndrome ?,"Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability. The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part of the eye (iris), and the clear covering of the eye (cornea). An eye problem called Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves abnormal development of the anterior segment, which results in a cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may also be associated with clouding of the lenses of the eyes (cataracts) or other lens abnormalities. Peters anomaly is usually bilateral, which means that it affects both eyes. The severity of corneal clouding and other eye problems can vary between individuals with Peters plus syndrome, even among members of the same family. Many people with Peters plus syndrome experience vision loss that worsens over time. All people with Peters plus syndrome have short stature, which is evident before birth. The height of adult males with this condition ranges from 141 centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the height of adult females ranges from 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly). The characteristic facial features of Peters plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose and mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). The neck may also be broad and webbed. A cleft lip with or without a cleft palate is present in about half of the people with this condition. Developmental milestones, such as walking and speech, are delayed in most children with Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although some have normal intelligence. The severity of physical features does not predict the level of intellectual disability. Less common signs and symptoms of Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities.",GHR,Peters plus syndrome +How many people are affected by Peters plus syndrome ?,Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide.,GHR,Peters plus syndrome +What are the genetic changes related to Peters plus syndrome ?,"Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.",GHR,Peters plus syndrome +Is Peters plus syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Peters plus syndrome +What are the treatments for Peters plus syndrome ?,These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Peters plus syndrome +"What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ?","TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.",GHR,"TK2-related mitochondrial DNA depletion syndrome, myopathic form" +"How many people are affected by TK2-related mitochondrial DNA depletion syndrome, myopathic form ?",The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described.,GHR,"TK2-related mitochondrial DNA depletion syndrome, myopathic form" +"What are the genetic changes related to TK2-related mitochondrial DNA depletion syndrome, myopathic form ?","As the condition name suggests, mutations in the TK2 gene cause TK2-MDS. The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, including energy production; chemical signaling; and regulation of cell growth, cell division, and cell death. Mitochondria contain their own genetic material, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Thymidine kinase 2 is involved in the production and maintenance of mtDNA. Specifically, this enzyme plays a role in recycling mtDNA building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced. Mutations in the TK2 gene reduce the production or activity of thymidine kinase 2. A decrease in enzyme activity impairs recycling of mtDNA nucleotides, causing a shortage of nucleotides available for the repair and production of mtDNA molecules. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs mitochondrial function. Greater mtDNA depletion tends to cause more severe signs and symptoms. The muscle cells of people with TK2-MDS have very low amounts of mtDNA, ranging from 5 to 30 percent of normal. Other tissues can have 60 percent of normal to normal amounts of mtDNA. It is unclear why TK2 gene mutations typically affect only muscle tissue, but the high energy demands of muscle cells may make them the most susceptible to cell death when mtDNA is lost and less energy is produced in cells. The brain and the liver also have high energy demands, which may explain why these organs are affected in severe cases of TK2-MDS.",GHR,"TK2-related mitochondrial DNA depletion syndrome, myopathic form" +"Is TK2-related mitochondrial DNA depletion syndrome, myopathic form inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"TK2-related mitochondrial DNA depletion syndrome, myopathic form" +"What are the treatments for TK2-related mitochondrial DNA depletion syndrome, myopathic form ?","These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form: - Cincinnati Children's Hospital: Mitochondrial Diseases Program - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"TK2-related mitochondrial DNA depletion syndrome, myopathic form" +What is (are) Pol III-related leukodystrophy ?,"Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Pol III-related leukodystrophy is a hypomyelinating disease, which means that the nervous system of affected individuals has a reduced ability to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder also have a loss of nerve cells in a part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the left and right halves of the brain (the corpus callosum). These brain abnormalities likely contribute to the neurological problems in affected individuals. People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens over time. Some affected individuals have normal intelligence in early childhood but develop mild intellectual disability during the course of the disease. Difficulty coordinating movements (ataxia), which begins in childhood and slowly worsens over time, is a characteristic feature of Pol III-related leukodystrophy. Affected children typically have delayed development of motor skills such as walking. Their gait is unstable, and they usually walk with their feet wide apart for balance. Affected individuals may eventually need to use a walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and hands may occur in this disorder. In some cases the tremor occurs mainly during movement (intentional tremor); other affected individuals experience the tremor both during movement and at rest. Development of the teeth (dentition) is often abnormal in Pol III-related leukodystrophy, resulting in the absence of some teeth (known as hypodontia or oligodontia). Some affected infants are born with a few teeth (natal teeth), which fall out during the first weeks of life. The primary (deciduous) teeth appear later than usual, beginning at about age 2. In Pol III-related leukodystrophy, the teeth may not appear in the usual sequence, in which front teeth (incisors) appear before back teeth (molars). Instead, molars often appear first, with incisors appearing later or not at all. Permanent teeth are also delayed, and may not appear until adolescence. The teeth may also be unusually shaped. Some individuals with Pol III-related leukodystrophy have excessive salivation and difficulty chewing or swallowing (dysphagia), which can lead to choking. They may also have speech impairment (dysarthria). People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which is restricted up-and-down eye movement that worsens over time. Nearsightedness is common in affected individuals, and clouding of the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and seizures may also occur in this disorder. Hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development, may occur in Pol III-related leukodystrophy. Affected individuals have delayed development of the typical signs of puberty, such as the growth of body hair. People with Pol III-related leukodystrophy may have different combinations of its signs and symptoms. These varied combinations of clinical features were originally described as separate disorders. Affected individuals may be diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH); hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic cause, researchers now group them as variations of the single condition Pol III-related leukodystrophy.",GHR,Pol III-related leukodystrophy +How many people are affected by Pol III-related leukodystrophy ?,"Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy.",GHR,Pol III-related leukodystrophy +What are the genetic changes related to Pol III-related leukodystrophy ?,"Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells. Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.",GHR,Pol III-related leukodystrophy +Is Pol III-related leukodystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Pol III-related leukodystrophy +What are the treatments for Pol III-related leukodystrophy ?,These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - Johns Hopkins Medicine: Treating Ataxia - National Ataxia Foundation: Diagnosis of Ataxia - UCSF Benioff Children's Hospital: Hypodontia - University of Chicago Ataxia Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pol III-related leukodystrophy +What is (are) VACTERL association ?,"VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association. Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands. Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.",GHR,VACTERL association +How many people are affected by VACTERL association ?,"VACTERL association occurs in 1 in 10,000 to 40,000 newborns.",GHR,VACTERL association +What are the genetic changes related to VACTERL association ?,"VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. The developmental abnormalities characteristic of VACTERL association develop before birth. The disruption to fetal development that causes VACTERL association likely occurs early in development, resulting in birth defects that affect multiple body systems. It is unclear why the features characteristic of VACTERL association group together in affected individuals.",GHR,VACTERL association +Is VACTERL association inherited ?,"Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with the condition. In these families, the features of VACTERL association often do not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition and how severe the condition will be in an individual.",GHR,VACTERL association +What are the treatments for VACTERL association ?,These resources address the diagnosis or management of VACTERL association: - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,VACTERL association +What is (are) dihydropyrimidinase deficiency ?,"Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing. The neurological abnormalities that occur most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally small head size (microcephaly) and autistic behaviors that affect communication and social interaction also occur in some individuals with this condition. Gastrointestinal problems that occur in dihydropyrimidinase deficiency include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and recurrent episodes of vomiting (cyclic vomiting). Affected individuals can also have deterioration (atrophy) of the small, finger-like projections (villi) that line the small intestine and provide a large surface area with which to absorb nutrients. This condition, called villous atrophy, can lead to difficulty absorbing nutrients from foods (malabsorption), resulting in a failure to grow and gain weight at the expected rate (failure to thrive). People with dihydropyrimidinase deficiency, including those who otherwise exhibit no symptoms, may be vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. These drugs may not be broken down efficiently and can build up to toxic levels in the body (fluoropyrimidine toxicity), leading to drug reactions including gastrointestinal problems, blood abnormalities, and other signs and symptoms.",GHR,dihydropyrimidinase deficiency +How many people are affected by dihydropyrimidinase deficiency ?,Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few dozen affected individuals have been described in the medical literature.,GHR,dihydropyrimidinase deficiency +What are the genetic changes related to dihydropyrimidinase deficiency ?,"Dihydropyrimidinase deficiency is caused by mutations in the DPYS gene, which provides instructions for making an enzyme called dihydropyrimidinase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The dihydropyrimidinase enzyme is involved in the second step of the three-step process that breaks down pyrimidines. This step opens the ring-like structures of molecules called 5,6-dihydrothymine and 5,6-dihydrouracil so that these molecules can be further broken down. The DPYS gene mutations that cause dihydropyrimidinase deficiency greatly reduce or eliminate dihydropyrimidinase enzyme function. As a result, the enzyme is unable to begin the breakdown of 5,6-dihydrothymine and 5,6-dihydrouracil. Excessive amounts of these molecules accumulate in the blood and in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) and are released in the urine. The relationship between the inability to break down 5,6-dihydrothymine and 5,6-dihydrouracil and the specific features of dihydropyrimidinase deficiency is unclear. Failure to complete this step in the breakdown of pyrimidines also impedes the final step of the process, which produces molecules called beta-aminoisobutyric acid and beta-alanine. Both of these molecules are thought to protect the nervous system and help it function properly. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with dihydropyrimidinase deficiency. Because fluoropyrimidine drugs are broken down by the same three-step process as pyrimidines, deficiency of the dihydropyrimidinase enzyme could lead to the drug buildup that causes fluoropyrimidine toxicity. It is unknown why some people with dihydropyrimidinase deficiency do not develop health problems related to the condition; other genetic and environmental factors likely help determine the effects of this disorder.",GHR,dihydropyrimidinase deficiency +Is dihydropyrimidinase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dihydropyrimidinase deficiency +What are the treatments for dihydropyrimidinase deficiency ?,These resources address the diagnosis or management of dihydropyrimidinase deficiency: - Genetic Testing Registry: Dihydropyrimidinase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dihydropyrimidinase deficiency +What is (are) neurofibromatosis type 1 ?,"Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood. Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia). During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision. Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.",GHR,neurofibromatosis type 1 +How many people are affected by neurofibromatosis type 1 ?,"Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide.",GHR,neurofibromatosis type 1 +What are the genetic changes related to neurofibromatosis type 1 ?,"Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body. It is unclear how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as caf-au-lait spots and learning disabilities.",GHR,neurofibromatosis type 1 +Is neurofibromatosis type 1 inherited ?,"Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF1 gene must be altered to trigger tumor formation in neurofibromatosis type 1. A mutation in the second copy of the NF1 gene occurs during a person's lifetime in specialized cells surrounding nerves. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.",GHR,neurofibromatosis type 1 +What are the treatments for neurofibromatosis type 1 ?,"These resources address the diagnosis or management of neurofibromatosis type 1: - Gene Review: Gene Review: Neurofibromatosis 1 - Genetic Testing Registry: Neurofibromatosis, type 1 - MedlinePlus Encyclopedia: Neurofibromatosis-1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,neurofibromatosis type 1 +What is (are) alpha thalassemia ?,"Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome. The milder form is called HbH disease. Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding. HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). Some affected individuals also have bone changes such as overgrowth of the upper jaw and an unusually prominent forehead. The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.",GHR,alpha thalassemia +How many people are affected by alpha thalassemia ?,"Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India, and Central Asia.",GHR,alpha thalassemia +What are the genetic changes related to alpha thalassemia ?,"Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. For each gene, one allele is inherited from a person's father, and the other is inherited from a person's mother. As a result, there are four alleles that produce alpha-globin. The different types of alpha thalassemia result from the loss of some or all of these alleles. Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss of all four alpha-globin alleles. HbH disease is caused by a loss of three of the four alpha-globin alleles. In these two conditions, a shortage of alpha-globin prevents cells from making normal hemoglobin. Instead, cells produce abnormal forms of hemoglobin called hemoglobin Bart (Hb Bart) or hemoglobin H (HbH). These abnormal hemoglobin molecules cannot effectively carry oxygen to the body's tissues. The substitution of Hb Bart or HbH for normal hemoglobin causes anemia and the other serious health problems associated with alpha thalassemia. Two additional variants of alpha thalassemia are related to a reduced amount of alpha-globin. Because cells still produce some normal hemoglobin, these variants tend to cause few or no health problems. A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. These individuals typically have no thalassemia-related signs or symptoms.",GHR,alpha thalassemia +Is alpha thalassemia inherited ?,"The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected.",GHR,alpha thalassemia +What are the treatments for alpha thalassemia ?,"These resources address the diagnosis or management of alpha thalassemia: - Gene Review: Gene Review: Alpha-Thalassemia - Genetic Testing Registry: alpha Thalassemia - MedlinePlus Encyclopedia: Thalassemia - University of California, San Francisco Fetal Treatment Center: Stem Cell Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,alpha thalassemia +What is (are) Langerhans cell histiocytosis ?,"Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. However, Langerhans cell histiocytosis is not generally considered to be a form of cancer. In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling. The granulomas, which usually occur in the skull or the long bones of the arms or legs, may cause the bone to fracture. Granulomas also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild to severe. The pituitary gland may also be affected; this gland is located at the base of the brain and produces hormones that control many important body functions. Without hormone supplementation, affected individuals may experience delayed or absent puberty or an inability to have children (infertility). In addition, pituitary gland damage may result in the production of excessive amounts of urine (diabetes insipidus) and dysfunction of another gland called the thyroid. Thyroid dysfunction can affect the rate of chemical reactions in the body (metabolism), body temperature, skin and hair texture, and behavior. In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, liver, or blood-forming (hematopoietic) system; damage to these organs and tissues may be life-threatening. Lung involvement, which appears as swelling of the small airways (bronchioles) and blood vessels of the lungs, results in stiffening of the lung tissue, breathing problems, and increased risk of infection. Hematopoietic involvement, which occurs when the Langerhans cells crowd out blood-forming cells in the bone marrow, leads to a general reduction in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). Other signs and symptoms that may occur in Langerhans cell histiocytosis, depending on which organs and tissues have Langerhans cell deposits, include swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and seizures. About 1 in 50 affected individuals experience deterioration of neurological function (neurodegeneration). Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Most individuals with adult-onset Langerhans cell histiocytosis are current or past smokers; in about two-thirds of adult-onset cases the disorder affects only the lungs. The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary widely among affected individuals. Certain presentations or forms of the disorder were formerly considered to be separate diseases. Older names that were sometimes used for forms of Langerhans cell histiocytosis include eosinophilic granuloma, Hand-Schller-Christian disease, and Letterer-Siwe disease. In many people with Langerhans cell histiocytosis, the disorder eventually goes away with appropriate treatment. It may even disappear on its own, especially if the disease occurs only in the skin. However, some complications of the condition, such as diabetes insipidus or other effects of tissue and organ damage, may be permanent.",GHR,Langerhans cell histiocytosis +How many people are affected by Langerhans cell histiocytosis ?,"Langerhans cell histiocytosis is a rare disorder. Its prevalence is estimated at 1 to 2 in 100,000 people.",GHR,Langerhans cell histiocytosis +What are the genetic changes related to Langerhans cell histiocytosis ?,"Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited. The BRAF gene provides instructions for making a protein that is normally switched on and off in response to signals that control cell growth and development. Somatic mutations cause the BRAF protein in affected cells to be continuously active and to transmit messages to the nucleus even in the absence of these chemical signals. The overactive protein may contribute to the development of Langerhans cell histiocytosis by allowing the Langerhans cells to grow and divide uncontrollably. Changes in other genes have also been identified in the Langerhans cells of some individuals with Langerhans cell histiocytosis. Some researchers believe that additional factors, such as viral infections and environmental toxins, may also influence the development of this complex disorder.",GHR,Langerhans cell histiocytosis +Is Langerhans cell histiocytosis inherited ?,"Langerhans cell histiocytosis is usually not inherited and typically occurs in people with no history of the disorder in their family. A few families with multiple cases of Langerhans cell histiocytosis have been identified, but the inheritance pattern is unknown.",GHR,Langerhans cell histiocytosis +What are the treatments for Langerhans cell histiocytosis ?,"These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Hospital - St. Jude Children's Research Hospital - Sydney Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Langerhans cell histiocytosis +What is (are) granulomatosis with polyangiitis ?,"Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is also commonly known as Wegener granulomatosis. A characteristic feature of GPA is inflammation of blood vessels (vasculitis), particularly the small- and medium-sized blood vessels in the lungs, nose, sinuses, windpipe, and kidneys, although vessels in any organ can be involved. Polyangiitis refers to the inflammation of multiple types of vessels, such as small arteries and veins. Vasculitis causes scarring and tissue death in the vessels and impedes blood flow to tissues and organs. Another characteristic feature of GPA is the formation of granulomas, which are small areas of inflammation composed of immune cells that aid in the inflammatory reaction. The granulomas usually occur in the lungs or airways of people with this condition, although they can occur in the eyes or other organs. As granulomas grow, they can invade surrounding areas, causing tissue damage. The signs and symptoms of GPA vary based on the tissues and organs affected by vasculitis. Many people with this condition experience a vague feeling of discomfort (malaise), fever, weight loss, or other general symptoms of the body's immune reaction. In most people with GPA, inflammation begins in the vessels of the respiratory tract, leading to nasal congestion, frequent nosebleeds, shortness of breath, or coughing. Severe inflammation in the nose can lead to a hole in the tissue that separates the two nostrils (nasal septum perforation) or a collapse of the septum, causing a sunken bridge of the nose (saddle nose). The kidneys are commonly affected in people with GPA. Tissue damage caused by vasculitis in the kidneys can lead to decreased kidney function, which may cause increased blood pressure or blood in the urine, and life-threatening kidney failure. Inflammation can also occur in other regions of the body, including the eyes, middle and inner ear structures, skin, joints, nerves, heart, and brain. Depending on which systems are involved, additional symptoms can include skin rashes, inner ear pain, swollen and painful joints, and numbness or tingling in the limbs. GPA is most common in middle-aged adults, although it can occur at any age. If untreated, the condition is usually fatal within 2 years of diagnosis. Even after treatment, vasculitis can return.",GHR,granulomatosis with polyangiitis +How many people are affected by granulomatosis with polyangiitis ?,"GPA is a rare disorder that affects an estimated 3 in 100,000 people in the United States.",GHR,granulomatosis with polyangiitis +What are the genetic changes related to granulomatosis with polyangiitis ?,"The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. GPA is an autoimmune disorder. Such disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Approximately 90 percent of people with GPA have an abnormal immune protein called an anti-neutrophil cytoplasmic antibody (ANCA) in their blood. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but ANCAs attack normal human proteins. Most people with GPA have an ANCA that attacks the human protein proteinase 3 (PR3). A few affected individuals have an ANCA that attacks a protein called myeloperoxidase (MPO). When these antibodies attach to the protein they recognize, they trigger inflammation, which contributes to the signs and symptoms of GPA. The HLA-DPB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A particular variant of the HLA-DPB1 gene called HLA-DPB1*0401 has been found more frequently in people with GPA, especially those with ANCAs, than in people without the condition. Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation in the respiratory tract and kidneys characteristic of GPA. However, it is unclear what specific role the HLA-DPB1*0401 gene variant plays in development of this condition.",GHR,granulomatosis with polyangiitis +Is granulomatosis with polyangiitis inherited ?,The inheritance pattern of GPA is unknown. Most instances are sporadic and occur in individuals with no history of the disorder in their family. Only rarely is more than one member of the same family affected by the disorder.,GHR,granulomatosis with polyangiitis +What are the treatments for granulomatosis with polyangiitis ?,These resources address the diagnosis or management of granulomatosis with polyangiitis: - Genetic Testing Registry: Wegener's granulomatosis - Johns Hopkins Vasculitis Center: How is Wegener's Granulomatosis Diagnosed? - MedlinePlus Encyclopedia: Wegener's Granulomatosis - Merck Manual Home Health Edition These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,granulomatosis with polyangiitis +What is (are) achondrogenesis ?,"Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support. Researchers have described at least three forms of achondrogenesis, designated as type 1A, type 1B, and type 2. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are often hard to tell apart without genetic testing. Achondrogenesis type 1A, which is also called the Houston-Harris type, is the least well understood of the three forms. Affected infants have extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis. Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet). Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia). Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a lack of ossification in the spine and pelvis. Distinctive facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before birth.",GHR,achondrogenesis +How many people are affected by achondrogenesis ?,"Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in 1 in 40,000 to 60,000 newborns.",GHR,achondrogenesis +What are the genetic changes related to achondrogenesis ?,"Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. This gene provides instructions for making a protein called GMAP-210. This protein plays a critical role in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Mutations in the TRIP11 gene prevent the production of functional GMAP-210, which alters the structure and function of the Golgi apparatus. Researchers suspect that cells called chondrocytes in the developing skeleton may be most sensitive to these changes. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely underlies the problems with bone formation in achondrogenesis type 1A. Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene cause the skeletal problems characteristic of achondrogenesis type 1B by disrupting the structure of developing cartilage, which prevents bones from forming properly. Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.",GHR,achondrogenesis +Is achondrogenesis inherited ?,"Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is almost always caused by new mutations in the COL2A1 gene and typically occurs in people with no history of the disorder in their family.",GHR,achondrogenesis +What are the treatments for achondrogenesis ?,"These resources address the diagnosis or management of achondrogenesis: - Gene Review: Gene Review: Achondrogenesis Type 1B - Genetic Testing Registry: Achondrogenesis type 2 - Genetic Testing Registry: Achondrogenesis, type IA - Genetic Testing Registry: Achondrogenesis, type IB - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,achondrogenesis +What is (are) Andermann syndrome ?,"Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). They typically begin walking between ages 3 and 4 and lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. Andermann syndrome is associated with a shortened life expectancy, but affected individuals typically live into adulthood.",GHR,Andermann syndrome +How many people are affected by Andermann syndrome ?,"Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this disorder have been identified in other regions of the world.",GHR,Andermann syndrome +What are the genetic changes related to Andermann syndrome ?,"Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (cotransported), so that the charges inside and outside the cell membrane are unchanged (electroneutral). Electroneutral cotransport of ions across cell membranes is involved in many functions of the body. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. It may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The K-Cl cotransporter protein may also help regulate the activity of other proteins that are sensitive to ion concentrations. Mutations in the SLC12A6 gene that cause Andermann syndrome disrupt the function of the K-Cl cotransporter protein. The lack of functional protein normally produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.",GHR,Andermann syndrome +Is Andermann syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Andermann syndrome +What are the treatments for Andermann syndrome ?,These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Andermann syndrome +"What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ?","Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder. People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life. People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes in their facial features. Some infants are born with an opening in the roof of the mouth (a cleft palate) and their cheekbones may appear flattened. Eye problems that can impair vision are common, such as severe nearsightedness (high myopia) and tearing of the lining of the eye (retinal detachment).",GHR,"spondyloepimetaphyseal dysplasia, Strudwick type" +"How many people are affected by spondyloepimetaphyseal dysplasia, Strudwick type ?",This condition is rare; only a few affected individuals have been reported worldwide.,GHR,"spondyloepimetaphyseal dysplasia, Strudwick type" +"What are the genetic changes related to spondyloepimetaphyseal dysplasia, Strudwick type ?","Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Most mutations in the COL2A1 gene that cause spondyloepimetaphyseal dysplasia, Strudwick type interfere with the assembly of type II collagen molecules. Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type.",GHR,"spondyloepimetaphyseal dysplasia, Strudwick type" +"Is spondyloepimetaphyseal dysplasia, Strudwick type inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,"spondyloepimetaphyseal dysplasia, Strudwick type" +"What are the treatments for spondyloepimetaphyseal dysplasia, Strudwick type ?","These resources address the diagnosis or management of spondyloepimetaphyseal dysplasia, Strudwick type: - Genetic Testing Registry: Spondyloepimetaphyseal dysplasia Strudwick type - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"spondyloepimetaphyseal dysplasia, Strudwick type" +What is (are) primary spontaneous pneumothorax ?,"Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath. Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.",GHR,primary spontaneous pneumothorax +How many people are affected by primary spontaneous pneumothorax ?,"Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year.",GHR,primary spontaneous pneumothorax +What are the genetic changes related to primary spontaneous pneumothorax ?,"Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract and expand when breathing. Folliculin is also produced in cells that line the small air sacs (alveoli). Researchers have not determined the protein's function, but they believe it may help control the growth and division of cells. Folliculin may play a role in repairing and re-forming lung tissue following damage. Researchers have not determined how FLCN gene mutations lead to the formation of blebs and increase the risk of primary spontaneous pneumothorax. One theory is that the altered folliculin protein may trigger inflammation within the lung tissue that could alter and damage the tissue, causing blebs. Primary spontaneous pneumothorax most often occurs in people without an identified gene mutation. The cause of the condition in these individuals is often unknown. Tall young men are at increased risk of developing primary spontaneous pneumothorax; researchers suggest that rapid growth of the chest during growth spurts may increase the likelihood of forming blebs. Smoking can also contribute to the development of primary spontaneous pneumothorax.",GHR,primary spontaneous pneumothorax +Is primary spontaneous pneumothorax inherited ?,"When this condition is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation associated with primary spontaneous pneumothorax all appear to develop blebs, but it is estimated that only 40 percent of those individuals go on to have a primary spontaneous pneumothorax.",GHR,primary spontaneous pneumothorax +What are the treatments for primary spontaneous pneumothorax ?,"These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Manual for Patients and Caregivers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,primary spontaneous pneumothorax +What is (are) aniridia ?,"Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.",GHR,aniridia +How many people are affected by aniridia ?,"Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide.",GHR,aniridia +What are the genetic changes related to aniridia ?,"Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance of different eye structures. Mutations in the PAX6 gene result in the production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional PAX6 protein disrupts the formation of the eyes during embryonic development.",GHR,aniridia +Is aniridia inherited ?,"Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,aniridia +What are the treatments for aniridia ?,These resources address the diagnosis or management of aniridia: - Gene Review: Gene Review: Aniridia - Genetic Testing Registry: Congenital aniridia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aniridia +What is (are) spastic paraplegia type 8 ?,"Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling the lower limbs and bladder, whereas the complex types also have significant involvement of the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. As the muscle weakness and spasticity get worse, some people may need the aid of a cane, walker, or wheelchair.",GHR,spastic paraplegia type 8 +How many people are affected by spastic paraplegia type 8 ?,"The prevalence of all hereditary spastic paraplegias combined is estimated to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases.",GHR,spastic paraplegia type 8 +What are the genetic changes related to spastic paraplegia type 8 ?,"Mutations in the KIAA0196 gene cause spastic paraplegia type 8. The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that strumpellin may interact with the structural framework inside cells (the cytoskeleton) and may attach (bind) to other proteins. KIAA0196 gene mutations are thought to change the structure of the strumpellin protein. It is unknown how the altered strumpellin protein causes the signs and symptoms of spastic paraplegia type 8.",GHR,spastic paraplegia type 8 +Is spastic paraplegia type 8 inherited ?,"Spastic paraplegia type 8 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,spastic paraplegia type 8 +What are the treatments for spastic paraplegia type 8 ?,"These resources address the diagnosis or management of spastic paraplegia type 8: - Gene Review: Gene Review: Spastic Paraplegia 8 - Genetic Testing Registry: Spastic paraplegia 8 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 8 +What is (are) arginase deficiency ?,"Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delay and eventual loss of developmental milestones, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia). Occasionally, high protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, signs and symptoms of arginase deficiency may be less severe, and may not appear until later in life.",GHR,arginase deficiency +How many people are affected by arginase deficiency ?,"Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.",GHR,arginase deficiency +What are the genetic changes related to arginase deficiency ?,"Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The ARG1 gene provides instructions for making an enzyme called arginase. This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.",GHR,arginase deficiency +Is arginase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,arginase deficiency +What are the treatments for arginase deficiency ?,These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,arginase deficiency +What is (are) primary sclerosing cholangitis ?,"Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).",GHR,primary sclerosing cholangitis +How many people are affected by primary sclerosing cholangitis ?,"An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.",GHR,primary sclerosing cholangitis +What are the genetic changes related to primary sclerosing cholangitis ?,"Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. It is likely that specific genetic variations increase a person's risk of developing primary sclerosing cholangitis, and then exposure to certain environmental factors triggers the disorder. However, the genetic changes that increase susceptibility and the environmental triggers remain unclear. There is evidence that variations in certain genes involved in immune function influence the risk of developing primary sclerosing cholangitis. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to be present more often in people with primary sclerosing cholangitis than in people who do not have the disorder. These variations may dysregulate the body's immune response, leading to the inflammation of the bile ducts in people with primary sclerosing cholangitis. However, the mechanism is not well understood. Researchers are also studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing this condition.",GHR,primary sclerosing cholangitis +Is primary sclerosing cholangitis inherited ?,"The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.",GHR,primary sclerosing cholangitis +What are the treatments for primary sclerosing cholangitis ?,These resources address the diagnosis or management of primary sclerosing cholangitis: - American Liver Foundation: Primary Sclerosing Cholangitis (PSC) - Genetic Testing Registry: Primary sclerosing cholangitis - MedlinePlus Encyclopedia: Sclerosing Cholangitis - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,primary sclerosing cholangitis +What is (are) Snyder-Robinson syndrome ?,"Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males. Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. The intellectual disability can range from mild to profound. Speech often develops late, and speech difficulties are common. Some affected individuals never develop any speech. Most affected males are thin and have low muscle mass, a body type described as an asthenic habitus. Weakness or ""floppiness"" (hypotonia) typically becomes apparent in infancy, and the loss of muscle tissue continues with age. People with this condition often have difficulty walking; most have an unsteady gait. Snyder-Robinson syndrome causes skeletal problems, particularly thinning of the bones (osteoporosis) that starts in early childhood. Osteoporosis causes the bones to be brittle and to break easily, often during normal activities. In people with Snyder-Robinson syndrome, broken bones occur most often in the arms and legs. Most affected individuals also develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Affected individuals tend to be shorter than their peers and others in their family. Snyder-Robinson syndrome is associated with distinctive facial features, including a prominent lower lip; a high, narrow roof of the mouth or an opening in the roof of the mouth (a cleft palate); and differences in the size and shape of the right and left sides of the face (facial asymmetry). Other signs and symptoms that have been reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys.",GHR,Snyder-Robinson syndrome +How many people are affected by Snyder-Robinson syndrome ?,Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. About 10 affected families have been identified worldwide.,GHR,Snyder-Robinson syndrome +What are the genetic changes related to Snyder-Robinson syndrome ?,"Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, the function of molecules called ion channels, and the controlled self-destruction of cells (apoptosis). Polyamines appear to be necessary for normal development and function of the brain and other parts of the body. Mutations in the SMS gene greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome.",GHR,Snyder-Robinson syndrome +Is Snyder-Robinson syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. No cases of Snyder-Robinson syndrome in females have been reported.",GHR,Snyder-Robinson syndrome +What are the treatments for Snyder-Robinson syndrome ?,These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Snyder-Robinson syndrome +What is (are) Townes-Brocks Syndrome ?,"Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features. Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.",GHR,Townes-Brocks Syndrome +How many people are affected by Townes-Brocks Syndrome ?,"The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes.",GHR,Townes-Brocks Syndrome +What are the genetic changes related to Townes-Brocks Syndrome ?,"Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Some mutations in the SALL1 gene lead to the production of an abnormally short version of the SALL1 protein that malfunctions within the cell. Other mutations prevent one copy of the gene in each cell from making any protein. It is unclear how these genetic changes disrupt normal development and cause the birth defects associated with Townes-Brocks syndrome.",GHR,Townes-Brocks Syndrome +Is Townes-Brocks Syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Townes-Brocks Syndrome +What are the treatments for Townes-Brocks Syndrome ?,These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Townes-Brocks Syndrome +What is (are) Potocki-Shaffer syndrome ?,"Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra ""soft spots"" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.",GHR,Potocki-Shaffer syndrome +How many people are affected by Potocki-Shaffer syndrome ?,"Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature.",GHR,Potocki-Shaffer syndrome +What are the genetic changes related to Potocki-Shaffer syndrome ?,"Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. The size of the deletion varies among affected individuals. Studies suggest that the full spectrum of features is caused by a deletion of at least 2.1 million DNA building blocks (base pairs), also written as 2.1 megabases (Mb). The loss of multiple genes within the deleted region causes the varied signs and symptoms of Potocki-Shaffer syndrome. In particular, deletion of the EXT2, ALX4, and PHF21A genes are associated with several of the characteristic features of Potocki-Shaffer syndrome. Research shows that loss of the EXT2 gene is associated with the development of multiple osteochondromas in affected individuals. Deletion of another gene, ALX4, causes the enlarged parietal foramina found in people with this condition. In addition, loss of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss of additional genes in the deleted region likely contributes to the other features of Potocki-Shaffer syndrome.",GHR,Potocki-Shaffer syndrome +Is Potocki-Shaffer syndrome inherited ?,"Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the condition results from a deletion that occurs during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development. These cases occur in people with no history of the disorder in their family.",GHR,Potocki-Shaffer syndrome +What are the treatments for Potocki-Shaffer syndrome ?,These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Potocki-Shaffer syndrome +What is (are) tyrosinemia ?,"Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10. Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). About 10 percent of newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). In these cases, the cause is not genetic. The most likely causes are vitamin C deficiency or immature liver enzymes due to premature birth.",GHR,tyrosinemia +How many people are affected by tyrosinemia ?,"Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This type is more common in Norway where 1 in 60,000 to 74,000 individuals are affected. Tyrosinemia type I is even more common in Quebec, Canada where it occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, tyrosinemia type I affects 1 in 1,846 people. Tyrosinemia type II occurs in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very rare; only a few cases have been reported.",GHR,tyrosinemia +What are the genetic changes related to tyrosinemia ?,"Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively. In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. The FAH gene provides instructions for the fumarylacetoacetate hydrolase enzyme, which is responsible for the final step of tyrosine breakdown. The enzyme produced from the TAT gene, called tyrosine aminotransferase enzyme, is involved at the first step in the process. The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which is responsible for the second step. Mutations in the FAH, TAT, or HPD gene cause a decrease in the activity of one of the enzymes in the breakdown of tyrosine. As a result, tyrosine and its byproducts accumulate to toxic levels, which can cause damage and death to cells in the liver, kidneys, nervous system, and other organs.",GHR,tyrosinemia +Is tyrosinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,tyrosinemia +What are the treatments for tyrosinemia ?,"These resources address the diagnosis or management of tyrosinemia: - Baby's First Test: Tyrosinemia, Type I - Baby's First Test: Tyrosinemia, Type II - Baby's First Test: Tyrosinemia, Type III - Gene Review: Gene Review: Tyrosinemia Type I - Genetic Testing Registry: 4-Hydroxyphenylpyruvate dioxygenase deficiency - Genetic Testing Registry: Tyrosinemia type 2 - Genetic Testing Registry: Tyrosinemia type I - MedlinePlus Encyclopedia: Aminoaciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,tyrosinemia +What is (are) Angelman syndrome ?,"Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as ""coarse."" Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.",GHR,Angelman syndrome +How many people are affected by Angelman syndrome ?,"Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.",GHR,Angelman syndrome +What are the genetic changes related to Angelman syndrome ?,"Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases. In some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes.",GHR,Angelman syndrome +Is Angelman syndrome inherited ?,"Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.",GHR,Angelman syndrome +What are the treatments for Angelman syndrome ?,These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Angelman syndrome +What is (are) deafness-dystonia-optic neuronopathy syndrome ?,"Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males. The first symptom of DDON syndrome is hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), which begins in early childhood. The hearing impairment worsens over time, and most affected individuals have profound hearing loss by age 10. People with DDON syndrome typically begin to develop problems with movement during their teens, although the onset of these symptoms varies among affected individuals. Some people experience involuntary tensing of the muscles (dystonia), while others have difficulty coordinating movements (ataxia). The problems with movement usually worsen over time. Individuals with DDON syndrome have normal vision during childhood, but they may begin to develop an increased sensitivity to light (photophobia) or other vision problems during their teens. These people often have a slowly progressive reduction in the sharpness of vision (visual acuity) and become legally blind in mid-adulthood. People with this condition may also have behavior problems, including changes in personality and aggressive or paranoid behaviors. They also usually develop a gradual decline in thinking and reasoning abilities (dementia) in their forties. The lifespan of individuals with DDON syndrome depends on the severity of the disorder. People with severe cases have survived into their teenage years, while those with milder cases have lived into their sixties.",GHR,deafness-dystonia-optic neuronopathy syndrome +How many people are affected by deafness-dystonia-optic neuronopathy syndrome ?,DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide.,GHR,deafness-dystonia-optic neuronopathy syndrome +What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ?,"Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria. Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.",GHR,deafness-dystonia-optic neuronopathy syndrome +Is deafness-dystonia-optic neuronopathy syndrome inherited ?,"DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause DDON syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,deafness-dystonia-optic neuronopathy syndrome +What are the treatments for deafness-dystonia-optic neuronopathy syndrome ?,These resources address the diagnosis or management of deafness-dystonia-optic neuronopathy syndrome: - Gene Review: Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome - Genetic Testing Registry: Mohr-Tranebjaerg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,deafness-dystonia-optic neuronopathy syndrome +What is (are) myosin storage myopathy ?,"Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.",GHR,myosin storage myopathy +How many people are affected by myosin storage myopathy ?,Myosin storage myopathy is a rare condition. Its prevalence is unknown.,GHR,myosin storage myopathy +What are the genetic changes related to myosin storage myopathy ?,"Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses for movement. Cardiac -myosin heavy chain is the major component of the thick filament in muscle cell structures called sarcomeres. Sarcomeres, which are made up of thick and thin filaments, are the basic units of muscle contraction. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Mutations in the MYH7 gene lead to the production of an altered cardiac -myosin heavy chain protein, which is thought to be less able to form thick filaments. The altered proteins accumulate in type I skeletal muscle fibers, forming the protein clumps characteristic of the disorder. It is unclear how these changes lead to muscle weakness in people with myosin storage myopathy.",GHR,myosin storage myopathy +Is myosin storage myopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,myosin storage myopathy +What are the treatments for myosin storage myopathy ?,These resources address the diagnosis or management of myosin storage myopathy: - Genetic Testing Registry: Myosin storage myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myosin storage myopathy +What is (are) Troyer syndrome ?,"Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia. People with Troyer syndrome can experience a variety of signs and symptoms. The most common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees. Troyer syndrome causes the degeneration and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person's lifetime, leading to a slow progressive decline in muscle and nerve function. The severity of impairment related to Troyer syndrome increases as a person ages. Most affected individuals require a wheelchair by the time they are in their fifties or sixties.",GHR,Troyer syndrome +How many people are affected by Troyer syndrome ?,About 20 cases of Troyer syndrome have been reported in the Old Order Amish population of Ohio. It has not been found outside this population.,GHR,Troyer syndrome +What are the genetic changes related to Troyer syndrome ?,"Troyer syndrome is caused by a mutation in the SPG20 gene. The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.",GHR,Troyer syndrome +Is Troyer syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Troyer syndrome +What are the treatments for Troyer syndrome ?,"These resources address the diagnosis or management of Troyer syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Troyer Syndrome - Genetic Testing Registry: Troyer syndrome - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Troyer syndrome +What is (are) Wolf-Hirschhorn syndrome ?,"Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. This combination is described as a ""Greek warrior helmet"" appearance. The eyes are widely spaced and may be protruding. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly). People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature. Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, while verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age. Additional features of Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal curvature of the spine (scoliosis and kyphosis), dental problems including missing teeth, and an opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, genitourinary tract, and brain. A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms.",GHR,Wolf-Hirschhorn syndrome +How many people are affected by Wolf-Hirschhorn syndrome ?,"The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males.",GHR,Wolf-Hirschhorn syndrome +What are the genetic changes related to Wolf-Hirschhorn syndrome ?,"Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition. Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.",GHR,Wolf-Hirschhorn syndrome +Is Wolf-Hirschhorn syndrome inherited ?,"Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de novo events, which may help explain the variability in the condition's signs and symptoms. De novo chromosomal changes occur in people with no history of the disorder in their family. A small percentage of all people with Wolf-Hirschhorn syndrome have the disorder as a result of an unusual chromosomal abnormality such as a ring chromosome 4. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. In the process, genes near the ends of the chromosome are lost. In the remaining cases of Wolf-Hirschhorn syndrome, an affected individual inherits a copy of chromosome 4 with a deleted segment. In these cases, one of the individual's parents carries a chromosomal rearrangement between chromosome 4 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Some people with Wolf-Hirschhorn syndrome inherit an unbalanced translocation that deletes genes near the end of the short arm of chromosome 4. A loss of these genes results in the intellectual disability, slow growth, and other health problems characteristic of this disorder.",GHR,Wolf-Hirschhorn syndrome +What are the treatments for Wolf-Hirschhorn syndrome ?,These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wolf-Hirschhorn syndrome +What is (are) hereditary pancreatitis ?,"Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood. Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age. Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood. Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.",GHR,hereditary pancreatitis +How many people are affected by hereditary pancreatitis ?,"Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals.",GHR,hereditary pancreatitis +What are the genetic changes related to hereditary pancreatitis ?,"Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. When digestion is complete and trypsin is no longer needed, the enzyme is broken down. Some PRSS1 gene mutations that cause hereditary pancreatitis result in the production of a cationic trypsinogen enzyme that is prematurely converted to trypsin while it is still in the pancreas. Other mutations prevent trypsin from being broken down. These changes result in elevated levels of trypsin in the pancreas. Trypsin activity in the pancreas can damage pancreatic tissue and can also trigger an immune response, causing inflammation in the pancreas. It is estimated that 65 to 80 percent of people with hereditary pancreatitis have mutations in the PRSS1 gene. The remaining cases are caused by mutations in other genes, some of which have not been identified.",GHR,hereditary pancreatitis +Is hereditary pancreatitis inherited ?,"When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. It is estimated that 20 percent of people who have the altered PRSS1 gene never have an episode of pancreatitis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene never develop signs and symptoms of the disease.",GHR,hereditary pancreatitis +What are the treatments for hereditary pancreatitis ?,These resources address the diagnosis or management of hereditary pancreatitis: - Encyclopedia: Chronic Pancreatitis - Gene Review: Gene Review: PRSS1-Related Hereditary Pancreatitis - Gene Review: Gene Review: Pancreatitis Overview - Genetic Testing Registry: Hereditary pancreatitis - Johns Hopkins Medicine: Treatment Options for Pancreatitis - MD Anderson Cancer Center: Pancreatic Cancer Diagnosis - MedlinePlus Encyclopedia: Acute Pancreatitis - MedlinePlus Encyclopedia: Chronic Pancreatitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary pancreatitis +What is (are) alternating hemiplegia of childhood ?,"Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days. In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin. These attacks can occur during or separately from episodes of hemiplegia. The episodes of hemiplegia or uncontrolled movements can be triggered by certain factors, such as stress, extreme tiredness, cold temperatures, or bathing, although the trigger is not always known. A characteristic feature of alternating hemiplegia of childhood is that all symptoms disappear while the affected person is sleeping but can reappear shortly after awakening. The number and length of the episodes initially worsen throughout childhood but then begin to decrease over time. The uncontrollable muscle movements may disappear entirely, but the episodes of hemiplegia occur throughout life. Alternating hemiplegia of childhood also causes mild to severe cognitive problems. Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time.",GHR,alternating hemiplegia of childhood +How many people are affected by alternating hemiplegia of childhood ?,Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.,GHR,alternating hemiplegia of childhood +What are the genetic changes related to alternating hemiplegia of childhood ?,"Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein complex called Na+/K+ ATPase; the two versions of the complex are found in different parts of the brain. Both versions play a critical role in the normal function of nerve cells (neurons). Na+/K+ ATPase transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 or ATP1A2 gene reduce the activity of the Na+/K+ ATPase, impairing its ability to transport ions normally. It is unclear how a malfunctioning Na+/K+ ATPase causes the episodes of paralysis or uncontrollable movements characteristic of alternating hemiplegia of childhood.",GHR,alternating hemiplegia of childhood +Is alternating hemiplegia of childhood inherited ?,"Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of alternating hemiplegia of childhood result from new mutations in the gene and occur in people with no history of the disorder in their family. However, the condition can also run in families. For unknown reasons, the signs and symptoms are typically milder when the condition is found in multiple family members than when a single individual is affected.",GHR,alternating hemiplegia of childhood +What are the treatments for alternating hemiplegia of childhood ?,These resources address the diagnosis or management of alternating hemiplegia of childhood: - The Great Ormond Street Hospital - University of Utah School of Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alternating hemiplegia of childhood +What is (are) Partington syndrome ?,"Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The intellectual disability associated with Partington syndrome usually ranges from mild to moderate. Some affected individuals have characteristics of autism spectrum disorders that affect communication and social interaction. Recurrent seizures (epilepsy) may also occur in Partington syndrome. Focal dystonia of the hands is a feature that distinguishes Partington syndrome from other intellectual disability syndromes. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions; tremors; and other uncontrolled movements. The term ""focal"" refers to a type of dystonia that affects a single part of the body, in this case the hands. In Partington syndrome, focal dystonia of the hands, which is called the Partington sign, begins in early childhood and gradually gets worse. This condition typically causes difficulty with grasping movements or using a pen or pencil. People with Partington syndrome may also have dystonia affecting other parts of the body; dystonia affecting the muscles in the face and those involved in speech may cause impaired speech (dysarthria). People with this disorder may also have an awkward way of walking (gait). Signs and symptoms can vary widely, even within the same family.",GHR,Partington syndrome +How many people are affected by Partington syndrome ?,The prevalence of Partington syndrome is unknown. About 20 cases have been described in the medical literature.,GHR,Partington syndrome +What are the genetic changes related to Partington syndrome ?,"Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). In particular, this protein regulates genes that play a role in the migration of specialized neurons (interneurons) to their proper location. Interneurons relay signals between other neurons. The normal ARX protein contains four regions where a protein building block (amino acid) called alanine is repeated multiple times. These stretches of alanines are known as polyalanine tracts. The most common mutation that causes Partington syndrome, a duplication of genetic material written as c.428_451dup, adds extra alanines to the second polyalanine tract in the ARX protein. This type of mutation is called a polyalanine repeat expansion. The expansion likely impairs ARX protein function and may disrupt normal interneuron migration in the developing brain, leading to the intellectual disability and dystonia characteristic of Partington syndrome.",GHR,Partington syndrome +Is Partington syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with one altered copy of the gene may have some signs and symptoms related to the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Partington syndrome +What are the treatments for Partington syndrome ?,These resources address the diagnosis or management of Partington syndrome: - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs - American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician? - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: Partington X-linked mental retardation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Partington syndrome +What is (are) Ewing sarcoma ?,"Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor. Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause. It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.",GHR,Ewing sarcoma +How many people are affected by Ewing sarcoma ?,"Approximately 3 per 1 million children each year are diagnosed with a Ewing sarcoma. It is estimated that, in the United States, 250 children are diagnosed with one of these types of tumor each year. Ewing sarcoma accounts for about 1.5 percent of all childhood cancers, and it is the second most common type of bone tumor in children (the most common type of bone cancer is called osteosarcoma).",GHR,Ewing sarcoma +What are the genetic changes related to Ewing sarcoma ?,"The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. The protein produced from the EWSR1/FLI1 fusion gene, called EWS/FLI, has functions of the protein products of both genes. The FLI protein, produced from the FLI1 gene, attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. The FLI protein controls the growth and development of some cell types by regulating the transcription of certain genes. The EWS protein, produced from the EWSR1 gene, also regulates transcription. The EWS/FLI protein has the DNA-binding function of the FLI protein as well as the transcription regulation function of the EWS protein. It is thought that the EWS/FLI protein turns the transcription of a variety of genes on and off abnormally. This dysregulation of transcription leads to uncontrolled growth and division (proliferation) and abnormal maturation and survival of cells, causing tumor development. The EWSR1/FLI1 fusion gene occurs in approximately 85 percent of Ewing sarcomas. Translocations that fuse the EWSR1 gene with other genes that are related to the FLI1 gene can also cause these types of tumors, although these alternative translocations are relatively uncommon. The fusion proteins produced from the less common gene translocations have the same function as the EWS/FLI protein.",GHR,Ewing sarcoma +Is Ewing sarcoma inherited ?,This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation.,GHR,Ewing sarcoma +What are the treatments for Ewing sarcoma ?,These resources address the diagnosis or management of Ewing sarcoma: - Cancer.Net: Ewing Family of Tumors - Childhood: Diagnosis - Cancer.Net: Ewing Family of Tumors - Childhood: Treatment - Genetic Testing Registry: Ewing's sarcoma - MedlinePlus Encyclopedia: Ewing Sarcoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Ewing sarcoma +What is (are) Tay-Sachs disease ?,"Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.",GHR,Tay-Sachs disease +How many people are affected by Tay-Sachs disease ?,"Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.",GHR,Tay-Sachs disease +What are the genetic changes related to Tay-Sachs disease ?,"Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of Tay-Sachs disease. Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.",GHR,Tay-Sachs disease +Is Tay-Sachs disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Tay-Sachs disease +What are the treatments for Tay-Sachs disease ?,These resources address the diagnosis or management of Tay-Sachs disease: - Gene Review: Gene Review: Hexosaminidase A Deficiency - Genetic Testing Registry: Tay-Sachs disease - MedlinePlus Encyclopedia: Tay-Sachs Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Tay-Sachs disease +What is (are) glycogen storage disease type I ?,"Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant). Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa.",GHR,glycogen storage disease type I +How many people are affected by glycogen storage disease type I ?,"The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases.",GHR,glycogen storage disease type I +What are the genetic changes related to glycogen storage disease type I ?,"Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.",GHR,glycogen storage disease type I +Is glycogen storage disease type I inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type I +What are the treatments for glycogen storage disease type I ?,"These resources address the diagnosis or management of glycogen storage disease type I: - American Liver Foundation - Canadian Liver Foundation - Gene Review: Gene Review: Glycogen Storage Disease Type I - Genetic Testing Registry: Glucose-6-phosphate transport defect - Genetic Testing Registry: Glycogen storage disease type 1A - Genetic Testing Registry: Glycogen storage disease, type I - MedlinePlus Encyclopedia: Von Gierke Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type I +What is (are) beta thalassemia ?,"Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots. Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe. The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems. Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth and bone abnormalities.",GHR,beta thalassemia +How many people are affected by beta thalassemia ?,"Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.",GHR,beta thalassemia +What are the genetic changes related to beta thalassemia ?,"Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin. Some mutations in the HBB gene prevent the production of any beta-globin. The absence of beta-globin is referred to as beta-zero (B0) thalassemia. Other HBB gene mutations allow some beta-globin to be produced but in reduced amounts. A reduced amount of beta-globin is called beta-plus (B+) thalassemia. Having either B0 or B+ thalassemia does not necessarily predict disease severity, however; people with both types have been diagnosed with thalassemia major and thalassemia intermedia. A lack of beta-globin leads to a reduced amount of functional hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells. The low number of mature red blood cells leads to anemia and other associated health problems in people with beta thalassemia.",GHR,beta thalassemia +Is beta thalassemia inherited ?,"Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor. In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.",GHR,beta thalassemia +What are the treatments for beta thalassemia ?,"These resources address the diagnosis or management of beta thalassemia: - Gene Review: Gene Review: Beta-Thalassemia - Genetic Testing Registry: Beta-thalassemia, dominant inclusion body type - Genetic Testing Registry: beta Thalassemia - MedlinePlus Encyclopedia: Thalassemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,beta thalassemia +What is (are) Leigh syndrome ?,"Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult. Several other features may occur in people with Leigh syndrome. Many affected individuals develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common in people with Leigh syndrome, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, cerebrospinal fluid, or urine of people with Leigh syndrome. The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain and the brainstem (the part of the brain that is connected to the spinal cord). These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which controls functions such as swallowing, breathing, hearing, and seeing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information back to the brain.",GHR,Leigh syndrome +How many people are affected by Leigh syndrome ?,"Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada.",GHR,Leigh syndrome +What are the genetic changes related to Leigh syndrome ?,"Leigh syndrome can be caused by mutations in one of over 30 different genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). While most people with Leigh syndrome have a mutation in nuclear DNA, about 20 to 25 percent have a mutation in mtDNA. Most genes associated with Leigh syndrome are involved in the process of energy production in mitochondria. Mitochondria use oxygen to convert the energy from food into a form cells can use. Five protein complexes, made up of several proteins each, are involved in this process, called oxidative phosphorylation. The complexes are named complex I, complex II, complex III, complex IV, and complex V. During oxidative phosphorylation, the protein complexes drive the production of ATP, the cell's main energy source, through a step-by-step transfer of negatively charged particles called electrons. Many of the gene mutations associated with Leigh syndrome affect proteins in complexes I, II, IV, or V or disrupt the assembly of these complexes. These mutations reduce or eliminate the activity of one or more of these complexes, which can lead to Leigh syndrome. Disruption of complex IV, also called cytochrome c oxidase or COX, is the most common cause of Leigh syndrome. The most frequently mutated gene in COX-deficient Leigh syndrome is called SURF1. This gene, which is found in nuclear DNA, provides instructions for making a protein that helps assemble the COX protein complex (complex IV). The COX protein complex, which is involved in the last step of electron transfer in oxidative phosphorylation, provides the energy that will be used in the next step of the process to generate ATP. Mutations in the SURF1 gene typically lead to an abnormally short SURF1 protein that is broken down in cells, resulting in the absence of functional SURF1 protein. The loss of this protein reduces the formation of normal COX complexes, which impairs mitochondrial energy production. Other nuclear DNA mutations associated with Leigh syndrome decrease the activity of other oxidative phosphorylation protein complexes or affect additional steps related to energy production. For example, Leigh syndrome can be caused by mutations in genes that form the pyruvate dehydrogenase complex. These mutations lead to a shortage of pyruvate dehydrogenase, an enzyme involved in mitochondrial energy production. The most common mtDNA mutation in Leigh syndrome affects the MT-ATP6 gene, which provides instructions for making a piece of complex V, also known as the ATP synthase protein complex. Using the energy provided by the other protein complexes, the ATP synthase complex generates ATP. MT-ATP6 gene mutations, found in 10 to 20 percent of people with Leigh syndrome, block the generation of ATP. Other mtDNA mutations associated with Leigh syndrome decrease the activity of other oxidative phosphorylation protein complexes or lead to reduced mitochondrial protein synthesis, all of which impair mitochondrial energy production. Although the exact mechanism is unclear, researchers believe that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell. Certain tissues that require large amounts of energy, such as the brain, muscles, and heart, seem especially sensitive to decreases in cellular energy. Cell death in the brain likely causes the characteristic lesions seen in Leigh syndrome, which contribute to the signs and symptoms of the condition. Cell death in other sensitive tissues may also contribute to the features of Leigh syndrome.",GHR,Leigh syndrome +Is Leigh syndrome inherited ?,"Leigh syndrome can have different inheritance patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. This pattern of inheritance applies to genes contained in nuclear DNA. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In about 20 to 25 percent of people with Leigh syndrome, the condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Occasionally, mutations in mtDNA occur spontaneously, and there is no history of Leigh syndrome in the family. In a small number of affected individuals with mutations in nuclear DNA, Leigh syndrome is inherited in an X-linked recessive pattern. The condition has this pattern of inheritance when the mutated gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Leigh syndrome +What are the treatments for Leigh syndrome ?,"These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) - Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) - Genetic Testing Registry: Leigh syndrome - Genetic Testing Registry: Leigh syndrome, French Canadian type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Leigh syndrome +What is (are) Majeed syndrome ?,"Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood. These symptoms persist into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.",GHR,Majeed syndrome +How many people are affected by Majeed syndrome ?,"Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.",GHR,Majeed syndrome +What are the genetic changes related to Majeed syndrome ?,"Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be involved in controlling inflammation and in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.",GHR,Majeed syndrome +Is Majeed syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.",GHR,Majeed syndrome +What are the treatments for Majeed syndrome ?,These resources address the diagnosis or management of Majeed syndrome: - Gene Review: Gene Review: Majeed Syndrome - Genetic Testing Registry: Majeed syndrome - MedlinePlus Encyclopedia: Osteomyelitis - MedlinePlus Encyclopedia: Psoriasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Majeed syndrome +What is (are) renal coloboma syndrome ?,"Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.",GHR,renal coloboma syndrome +How many people are affected by renal coloboma syndrome ?,The prevalence of renal coloboma syndrome is unknown; at least 60 cases have been reported in the scientific literature.,GHR,renal coloboma syndrome +What are the genetic changes related to renal coloboma syndrome ?,"Renal coloboma syndrome is caused by mutations in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. The PAX2 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX2 protein is called a transcription factor. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress. Mutations in the PAX2 gene lead to the production of a nonfunctional PAX2 protein that is unable to aid in development, causing incomplete formation of certain tissues. Why the kidneys and eyes are specifically affected by PAX2 gene mutations is unclear. Approximately half of those affected with renal coloboma syndrome do not have an identified mutation in the PAX2 gene. In these cases, the cause of the disorder is unknown.",GHR,renal coloboma syndrome +Is renal coloboma syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,renal coloboma syndrome +What are the treatments for renal coloboma syndrome ?,These resources address the diagnosis or management of renal coloboma syndrome: - Gene Review: Gene Review: Renal Coloboma Syndrome - Genetic Testing Registry: Renal coloboma syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,renal coloboma syndrome +What is (are) 22q11.2 duplication ?,"22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.",GHR,22q11.2 duplication +How many people are affected by 22q11.2 duplication ?,"The prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental delay or other problems affecting themselves or a family member. In one study, about 1 in 700 people tested for these reasons had the 22q11.2 duplication. Overall, more than 60 individuals with the duplication have been identified.",GHR,22q11.2 duplication +What are the genetic changes related to 22q11.2 duplication ?,"People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb). The 3 Mb duplicated region contains 30 to 40 genes. For many of these genes, little is known about their function. A small percentage of affected individuals have a shorter duplication in the same region. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition.",GHR,22q11.2 duplication +Is 22q11.2 duplication inherited ?,"The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. About 70 percent of affected individuals inherit the duplication from a parent. In other cases, the duplication is not inherited and instead occurs as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. These affected people typically have no history of the disorder in their family, although they can pass the duplication to their children.",GHR,22q11.2 duplication +What are the treatments for 22q11.2 duplication ?,These resources address the diagnosis or management of 22q11.2 duplication: - Gene Review: Gene Review: 22q11.2 Duplication - Genetic Testing Registry: 22q11.2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,22q11.2 duplication +What is (are) short QT syndrome ?,"Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term ""short QT"" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short. If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.",GHR,short QT syndrome +How many people are affected by short QT syndrome ?,"Short QT syndrome appears to be rare. At least 70 cases have been identified worldwide since the condition was discovered in 2000. However, the condition may be underdiagnosed because some affected individuals never experience symptoms.",GHR,short QT syndrome +What are the genetic changes related to short QT syndrome ?,"Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome. Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases.",GHR,short QT syndrome +Is short QT syndrome inherited ?,"Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT syndrome are classified as sporadic and occur in people with no apparent family history of related heart problems.",GHR,short QT syndrome +What are the treatments for short QT syndrome ?,These resources address the diagnosis or management of short QT syndrome: - Genetic Testing Registry: Short QT syndrome 1 - Genetic Testing Registry: Short QT syndrome 2 - Genetic Testing Registry: Short QT syndrome 3 - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,short QT syndrome +What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?,"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. (""Hemi-"" means ""half,"" and ""dysplasia"" refers to abnormal growth.) The right side is affected about twice as often as the left side. People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life. CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities. Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.",GHR,congenital hemidysplasia with ichthyosiform erythroderma and limb defects +How many people are affected by congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?,CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females.,GHR,congenital hemidysplasia with ichthyosiform erythroderma and limb defects +What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?,"Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.",GHR,congenital hemidysplasia with ichthyosiform erythroderma and limb defects +Is congenital hemidysplasia with ichthyosiform erythroderma and limb defects inherited ?,"This condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Most cases of CHILD syndrome occur sporadically, which means only one member of a family is affected. Rarely, the condition can run in families and is passed from mother to daughter. Researchers believe that CHILD syndrome occurs almost exclusively in females because affected males die before birth. Only one male with CHILD syndrome has been reported.",GHR,congenital hemidysplasia with ichthyosiform erythroderma and limb defects +What are the treatments for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?,These resources address the diagnosis or management of CHILD syndrome: - Gene Review: Gene Review: NSDHL-Related Disorders - Genetic Testing Registry: Child syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital hemidysplasia with ichthyosiform erythroderma and limb defects +What is (are) congenital leptin deficiency ?,"Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).",GHR,congenital leptin deficiency +How many people are affected by congenital leptin deficiency ?,Congenital leptin deficiency is a rare disorder. Only a few dozen cases have been reported in the medical literature.,GHR,congenital leptin deficiency +What are the genetic changes related to congenital leptin deficiency ?,"Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. This rise in leptin indicates that fat stores are increasing. Leptin attaches (binds) to and activates a protein called the leptin receptor, fitting into the receptor like a key into a lock. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety). LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. As a result, the signaling that triggers feelings of satiety does not occur, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in congenital leptin deficiency, researchers suggest that leptin signaling is also involved in regulating the hormones that control sexual development. However, the specifics of this involvement and how it may be altered in congenital leptin deficiency are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more common forms of obesity.",GHR,congenital leptin deficiency +Is congenital leptin deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital leptin deficiency +What are the treatments for congenital leptin deficiency ?,"These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, due to leptin deficiency - Genetics of Obesity Study - National Heart, Lung, and Blood Institute: How Are Overweight and Obesity Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital leptin deficiency +What is (are) lysinuric protein intolerance ?,"Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability. The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.",GHR,lysinuric protein intolerance +How many people are affected by lysinuric protein intolerance ?,"Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns in Finland and 1 in 57,000 newborns in Japan. Outside these populations this condition occurs less frequently, but the exact incidence is unknown.",GHR,lysinuric protein intolerance +What are the genetic changes related to lysinuric protein intolerance ?,"Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small intestines and kidneys to the rest of the body is necessary for the body to be able to use proteins. Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ornithine in the body and an abnormally large amount of these amino acids in urine. A shortage of lysine, arginine, and ornithine disrupts many vital functions. Arginine and ornithine are involved in a cellular process called the urea cycle, which processes excess nitrogen (in the form of ammonia) that is generated when protein is used by the body. The lack of arginine and ornithine in the urea cycle causes elevated levels of ammonia in the blood. Lysine is particularly abundant in collagen molecules that give structure and strength to connective tissues such as skin, tendons, and ligaments. A deficiency of lysine contributes to the short stature and osteoporosis seen in people with lysinuric protein intolerance. Other features of lysinuric protein intolerance are thought to result from abnormal protein transport (such as protein deposits in the lungs) or a lack of protein that can be used by the body (protein malnutrition).",GHR,lysinuric protein intolerance +Is lysinuric protein intolerance inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,lysinuric protein intolerance +What are the treatments for lysinuric protein intolerance ?,These resources address the diagnosis or management of lysinuric protein intolerance: - Gene Review: Gene Review: Lysinuric Protein Intolerance - Genetic Testing Registry: Lysinuric protein intolerance - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lysinuric protein intolerance +What is (are) beta-ketothiolase deficiency ?,"Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods.",GHR,beta-ketothiolase deficiency +How many people are affected by beta-ketothiolase deficiency ?,Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns.,GHR,beta-ketothiolase deficiency +What are the genetic changes related to beta-ketothiolase deficiency ?,"Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats. Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances cause the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs, particularly in the nervous system.",GHR,beta-ketothiolase deficiency +Is beta-ketothiolase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,beta-ketothiolase deficiency +What are the treatments for beta-ketothiolase deficiency ?,These resources address the diagnosis or management of beta-ketothiolase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,beta-ketothiolase deficiency +"What is (are) hypermanganesemia with dystonia, polycythemia, and cirrhosis ?","Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an inherited disorder in which excessive amounts of the element manganese accumulate in the body, particularly in the brain, liver, and blood (hypermanganesemia). Signs and symptoms of this condition can appear in childhood (early-onset), typically between ages 2 and 15, or in adulthood (adult-onset). Manganese accumulates in a region of the brain responsible for the coordination of movement, causing neurological problems that make controlling movement difficult. Most children with the early-onset form of HMDPC experience involuntary tensing of the muscles in the arms and legs (four-limb dystonia), which often leads to a characteristic high-stepping walk described as a ""cock-walk gait."" Other neurological symptoms in affected children include involuntary trembling (tremor), unusually slow movement (bradykinesia), and slurred speech (dysarthria). The adult-onset form of HMDPC is characterized by a pattern of movement abnormalities known as parkinsonism, which includes bradykinesia, tremor, muscle rigidity, and an inability to hold the body upright and balanced (postural instability). Affected individuals have an increased number of red blood cells (polycythemia) and low levels of iron stored in the body. Additional features of HMDPC can include an enlarged liver (hepatomegaly), scarring (fibrosis) in the liver, and irreversible liver disease (cirrhosis).",GHR,"hypermanganesemia with dystonia, polycythemia, and cirrhosis" +"How many people are affected by hypermanganesemia with dystonia, polycythemia, and cirrhosis ?",The prevalence of HMDPC is unknown. A small number of cases have been described in the scientific literature.,GHR,"hypermanganesemia with dystonia, polycythemia, and cirrhosis" +"What are the genetic changes related to hypermanganesemia with dystonia, polycythemia, and cirrhosis ?","Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. The SLC30A10 protein is found in the membranes surrounding liver cells and nerve cells in the brain, as well as in the membranes of structures within these cells. The protein protects these cells from high concentrations of manganese by removing manganese when levels become elevated. Mutations in the SLC30A10 gene impair the transport of manganese out of cells, allowing the element to build up in the brain and liver. Manganese accumulation in the brain leads to the movement problems characteristic of HMDPC. Damage from manganese buildup in the liver leads to liver abnormalities in people with this condition. High levels of manganese help increase the production of red blood cells, so excess amounts of this element also result in polycythemia.",GHR,"hypermanganesemia with dystonia, polycythemia, and cirrhosis" +"Is hypermanganesemia with dystonia, polycythemia, and cirrhosis inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"hypermanganesemia with dystonia, polycythemia, and cirrhosis" +"What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ?","These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"hypermanganesemia with dystonia, polycythemia, and cirrhosis" +What is (are) 1q21.1 microdeletion ?,"1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features. About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild. Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss. Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia. Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.",GHR,1q21.1 microdeletion +How many people are affected by 1q21.1 microdeletion ?,1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.,GHR,1q21.1 microdeletion +What are the genetic changes related to 1q21.1 microdeletion ?,"Most people with a 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell. The signs and symptoms that can result from a 1q21.1 microdeletion are probably related to the loss of several genes in this region. Researchers are working to determine which missing genes contribute to the specific features associated with the deletion. Because some people with a 1q21.1 microdeletion have no obvious related features, additional genetic or environmental factors are thought to be involved in the development of signs and symptoms. Researchers sometimes refer to 1q21.1 microdeletion as the recurrent distal 1.35-Mb deletion to distinguish it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the deletion of a different, smaller DNA segment in the chromosome 1q21.1 region near the area where the 1.35-Mb deletion occurs. The chromosomal change related to TAR syndrome is often called the 200-kb deletion.",GHR,1q21.1 microdeletion +Is 1q21.1 microdeletion inherited ?,"1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. In at least half of cases, individuals with a 1q21.1 microdeletion inherit the chromosomal change from a parent. In general, parents who carry a 1q21.1 microdeletion have milder signs and symptoms than their children who inherit the deletion, even though the deletion is the same size. About one-quarter of these parents have no associated features. A 1q21.1 microdeletion can also occur in people whose parents do not carry the chromosomal change. In this situation, the deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) in a parent or in early embryonic development.",GHR,1q21.1 microdeletion +What are the treatments for 1q21.1 microdeletion ?,These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,1q21.1 microdeletion +What is (are) rapid-onset dystonia parkinsonism ?,"Rapid-onset dystonia parkinsonism is a rare movement disorder. ""Rapid-onset"" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls. Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward, first affecting the facial muscles, then the arms, and finally the legs. The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later. Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.",GHR,rapid-onset dystonia parkinsonism +How many people are affected by rapid-onset dystonia parkinsonism ?,"Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.",GHR,rapid-onset dystonia parkinsonism +What are the genetic changes related to rapid-onset dystonia parkinsonism ?,"Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism. In some people with rapid-onset dystonia parkinsonism, no mutation in the ATP1A3 gene has been identified. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder.",GHR,rapid-onset dystonia parkinsonism +Is rapid-onset dystonia parkinsonism inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Not everyone who has an ATP1A3 mutation will ultimately develop the signs and symptoms of rapid-onset dystonia parkinsonism. It is unclear why some people with a gene mutation develop movement abnormalities and others do not.",GHR,rapid-onset dystonia parkinsonism +What are the treatments for rapid-onset dystonia parkinsonism ?,These resources address the diagnosis or management of rapid-onset dystonia parkinsonism: - Gene Review: Gene Review: Rapid-Onset Dystonia-Parkinsonism - Genetic Testing Registry: Dystonia 12 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,rapid-onset dystonia parkinsonism +What is (are) glucose-galactose malabsorption ?,"Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and lactose (the sugar found in milk) are called disaccharides because they are made from two simple sugars, and are broken down into these simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and lactose is broken down into glucose and galactose. As a result, lactose, sucrose and other compounds made from sugar molecules (carbohydrates) cannot be digested by individuals with glucose-galactose malabsorption. Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (acidosis), and weight loss when fed breast milk or regular infant formulas. However, they are able to digest fructose-based formulas that do not contain glucose or galactose. Some affected children are better able to tolerate glucose and galactose as they get older. Small amounts of glucose in the urine (mild glucosuria) may occur intermittently in this disorder. Affected individuals may also develop kidney stones or more widespread deposits of calcium within the kidneys.",GHR,glucose-galactose malabsorption +How many people are affected by glucose-galactose malabsorption ?,"Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose malabsorption.",GHR,glucose-galactose malabsorption +What are the genetic changes related to glucose-galactose malabsorption ?,"Mutations in the SLC5A1 gene cause glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the structurally similar galactose across cell membranes. The sodium/glucose cotransporter protein is important in the functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. The sodium/glucose cotransporter protein is involved in the process of using energy to move glucose and galactose across the brush border membrane for absorption, a mechanism called active transport. Sodium and water are transported across the brush border along with the sugars in this process. Mutations that prevent the sodium/glucose cotransporter protein from performing this function result in a buildup of glucose and galactose in the intestinal tract. This failure of active transport prevents the glucose and galactose from being absorbed and providing nourishment to the body. In addition, the water that normally would have been transported across the brush border with the sugar instead remains in the intestinal tract to be expelled with the stool, resulting in dehydration of the body's tissues and severe diarrhea.",GHR,glucose-galactose malabsorption +Is glucose-galactose malabsorption inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In some cases, individuals with one altered gene have reduced levels of glucose absorption capacity as measured in laboratory tests, but this has not generally been shown to have significant health effects.",GHR,glucose-galactose malabsorption +What are the treatments for glucose-galactose malabsorption ?,These resources address the diagnosis or management of glucose-galactose malabsorption: - Genetic Testing Registry: Congenital glucose-galactose malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glucose-galactose malabsorption +What is (are) mandibulofacial dysostosis with microcephaly ?,"Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder. Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped, and they may have skin growths in front of them called preauricular tags. There may also be abnormalities of the ear canal, the tiny bones in the ears (ossicles), or a part of the inner ear called the semicircular canals. These ear abnormalities lead to hearing loss in most affected individuals. Some people with MFDM have an opening in the roof of the mouth (cleft palate), which may also contribute to hearing loss by increasing the risk of ear infections. Affected individuals can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. Some people with this disorder also have blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper esophagus does not connect to the lower esophagus and stomach. Most babies born with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening condition; without treatment, it prevents normal feeding and can cause lung damage from repeated exposure to esophageal fluids.",GHR,mandibulofacial dysostosis with microcephaly +How many people are affected by mandibulofacial dysostosis with microcephaly ?,MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature.,GHR,mandibulofacial dysostosis with microcephaly +What are the genetic changes related to mandibulofacial dysostosis with microcephaly ?,"MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules. EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.",GHR,mandibulofacial dysostosis with microcephaly +Is mandibulofacial dysostosis with microcephaly inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition.",GHR,mandibulofacial dysostosis with microcephaly +What are the treatments for mandibulofacial dysostosis with microcephaly ?,"These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,mandibulofacial dysostosis with microcephaly +What is (are) craniofacial microsomia ?,"Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.",GHR,craniofacial microsomia +How many people are affected by craniofacial microsomia ?,"Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are unclear, the disorder occurs about 50 percent more often in males than in females.",GHR,craniofacial microsomia +What are the genetic changes related to craniofacial microsomia ?,"It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. Specifically, the first and second pharyngeal arches develop into the lower jaw, the nerves and muscles used for chewing and facial expression, the external ear, and the bones of the middle ear. Interference with the normal development of these structures can result in the abnormalities characteristic of craniofacial microsomia. There are several factors that can disrupt the normal development of the first and second pharyngeal arches and lead to craniofacial microsomia. Some individuals with this condition have chromosomal abnormalities such as deletions or duplications of genetic material; these individuals often have additional developmental problems or malformations. Occasionally, craniofacial microsomia occurs in multiple members of a family in a pattern that suggests inheritance of a causative gene mutation, but the gene or genes involved are unknown. In other families, individuals seem to inherit a predisposition to the disorder. The risk of craniofacial microsomia can also be increased by environmental factors, such as certain drugs taken by the mother during pregnancy. In most affected individuals, the cause of the disorder is unknown. It is not well understood why certain disruptions to development affect the first and second pharyngeal arches in particular. Researchers suggest that these structures may develop together in such a way that they respond as a unit to these disruptions.",GHR,craniofacial microsomia +Is craniofacial microsomia inherited ?,"Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In 1 to 2 percent of cases, craniofacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The gene or genes involved in craniofacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing craniofacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.",GHR,craniofacial microsomia +What are the treatments for craniofacial microsomia ?,These resources address the diagnosis or management of craniofacial microsomia: - Children's Hospital and Medical Center of the University of Nebraska - Gene Review: Gene Review: Craniofacial Microsomia Overview - Genetic Testing Registry: Goldenhar syndrome - Seattle Children's Hospital - Virginia Commonwealth University These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,craniofacial microsomia +What is (are) branchio-oculo-facial syndrome ?,"Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. ""Branchio-"" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome. ""Oculo-"" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition. Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.",GHR,branchio-oculo-facial syndrome +How many people are affected by branchio-oculo-facial syndrome ?,"Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown.",GHR,branchio-oculo-facial syndrome +What are the genetic changes related to branchio-oculo-facial syndrome ?,"Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck. Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.",GHR,branchio-oculo-facial syndrome +Is branchio-oculo-facial syndrome inherited ?,"Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits the mutation from one affected parent. The remaining cases occur in people whose parents do not have a mutation in the TFAP2A gene. In these situations, the mutation likely occurs as a random event during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development of the affected individual.",GHR,branchio-oculo-facial syndrome +What are the treatments for branchio-oculo-facial syndrome ?,These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,branchio-oculo-facial syndrome +What is (are) tumor necrosis factor receptor-associated periodic syndrome ?,"Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes. During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis, typically in mid-adulthood. The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in childhood.",GHR,tumor necrosis factor receptor-associated periodic syndrome +How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ?,"TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS.",GHR,tumor necrosis factor receptor-associated periodic syndrome +What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ?,"TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). This binding sends signals that can trigger the cell either to initiate inflammation or to self-destruct. Signaling within the cell initiates a pathway that turns on a protein called nuclear factor kappa B that triggers inflammation and leads to the production of immune system proteins called cytokines. The self-destruction of the cell (apoptosis) is initiated when the TNFR1 protein, bound to the TNF protein, is brought into the cell and triggers a process known as the caspase cascade. Most TNFRSF1A gene mutations that cause TRAPS result in a TNFR1 protein that is folded into an incorrect 3-dimensional shape. These misfolded proteins are trapped within the cell and are not able to get to the cell surface to interact with TNF. Inside the cell, these proteins clump together and are thought to trigger alternative pathways that initiate inflammation. The clumps of protein constantly activate these alternative inflammation pathways, leading to excess inflammation in people with TRAPS. Additionally, because only one copy of the TNFRSF1A gene has a mutation, some normal TNFR1 proteins are produced and can bind to the TNF protein, leading to additional inflammation. It is unclear if disruption of the apoptosis pathway plays a role in the signs and symptoms of TRAPS.",GHR,tumor necrosis factor receptor-associated periodic syndrome +Is tumor necrosis factor receptor-associated periodic syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of TRAPS. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with the mutated gene do not. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,tumor necrosis factor receptor-associated periodic syndrome +What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ?,These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,tumor necrosis factor receptor-associated periodic syndrome +What is (are) deafness and myopia syndrome ?,"Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual). Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.",GHR,deafness and myopia syndrome +How many people are affected by deafness and myopia syndrome ?,The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature.,GHR,deafness and myopia syndrome +What are the genetic changes related to deafness and myopia syndrome ?,"Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function. SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.",GHR,deafness and myopia syndrome +Is deafness and myopia syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,deafness and myopia syndrome +What are the treatments for deafness and myopia syndrome ?,These resources address the diagnosis or management of deafness and myopia syndrome: - Baby's First Test: Hearing Loss - EyeSmart: Eyeglasses for Vision Correction - Gene Review: Gene Review: Deafness and Myopia Syndrome - Harvard Medical School Center for Hereditary Deafness - KidsHealth: Hearing Evaluation in Children - MedlinePlus Encyclopedia: Cochlear Implant - MedlinePlus Health Topic: Cochlear Implants - MedlinePlus Health Topic: Hearing Aids - MedlinePlus Health Topic: Newborn Screening These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,deafness and myopia syndrome +What is (are) hyperkalemic periodic paralysis ?,"Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands. Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.",GHR,hyperkalemic periodic paralysis +How many people are affected by hyperkalemic periodic paralysis ?,"Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.",GHR,hyperkalemic periodic paralysis +What are the genetic changes related to hyperkalemic periodic paralysis ?,"Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis. In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.",GHR,hyperkalemic periodic paralysis +Is hyperkalemic periodic paralysis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hyperkalemic periodic paralysis +What are the treatments for hyperkalemic periodic paralysis ?,These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkalemic Periodic Paralysis Type 1 - MedlinePlus Encyclopedia: Hyperkalemic Periodic Paralysis - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hyperkalemic periodic paralysis +What is (are) Meesmann corneal dystrophy ?,"Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye. In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.",GHR,Meesmann corneal dystrophy +How many people are affected by Meesmann corneal dystrophy ?,"Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide.",GHR,Meesmann corneal dystrophy +What are the genetic changes related to Meesmann corneal dystrophy ?,"Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutations in either the KRT12 or KRT3 gene weaken this framework, causing the corneal epithelium to become fragile and to develop the cysts that characterize the disorder. The cysts likely contain clumps of abnormal keratin proteins and other cellular debris. When the cysts rupture, they cause eye irritation and the other symptoms of Meesmann corneal dystrophy.",GHR,Meesmann corneal dystrophy +Is Meesmann corneal dystrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent.",GHR,Meesmann corneal dystrophy +What are the treatments for Meesmann corneal dystrophy ?,These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Meesmann corneal dystrophy +What is (are) achondroplasia ?,"Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means ""without cartilage formation."" Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence. Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.",GHR,achondroplasia +How many people are affected by achondroplasia ?,"Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.",GHR,achondroplasia +What are the genetic changes related to achondroplasia ?,"Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.",GHR,achondroplasia +Is achondroplasia inherited ?,"Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure.",GHR,achondroplasia +What are the treatments for achondroplasia ?,These resources address the diagnosis or management of achondroplasia: - Gene Review: Gene Review: Achondroplasia - GeneFacts: Achondroplasia: Diagnosis - GeneFacts: Achondroplasia: Management - Genetic Testing Registry: Achondroplasia - MedlinePlus Encyclopedia: Achondroplasia - MedlinePlus Encyclopedia: Hydrocephalus - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Spinal Stenosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,achondroplasia +What is (are) Stickler syndrome ?,"Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing. Many people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases. In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear. Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain. Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals. A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.",GHR,Stickler syndrome +How many people are affected by Stickler syndrome ?,"Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition.",GHR,Stickler syndrome +What are the genetic changes related to Stickler syndrome ?,"Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which may be a variant of Stickler syndrome, is also caused by COL11A1 gene mutations. Stickler syndrome types III through VI result from mutations in other, related genes. All of the genes associated with Stickler syndrome provide instructions for making components of collagens, which are complex molecules that give structure and strength to the connective tissues that support the body's joints and organs. Mutations in any of these genes impair the production, processing, or assembly of collagen molecules. Defective collagen molecules or reduced amounts of collagen impair the development of connective tissues in many different parts of the body, leading to the varied features of Stickler syndrome. Not all individuals with Stickler syndrome have mutations in one of the known genes. Researchers believe that mutations in other genes may also cause this condition, but those genes have not been identified.",GHR,Stickler syndrome +Is Stickler syndrome inherited ?,"Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations. These cases occur in people with no history of Stickler syndrome in their family. Marshall syndrome also typically has an autosomal dominant pattern of inheritance. Stickler syndrome types IV, V, and VI are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Stickler syndrome +What are the treatments for Stickler syndrome ?,"These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Retina - Stickler Involved People: Clinical Characteristics & Diagnostic Criteria - Stickler Involved People: Stickler Syndrome Recognition, Diagnosis, Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Stickler syndrome +What is (are) Klippel-Feil syndrome ?,"Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur. People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome. In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.",GHR,Klippel-Feil syndrome +How many people are affected by Klippel-Feil syndrome ?,"Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males.",GHR,Klippel-Feil syndrome +What are the genetic changes related to Klippel-Feil syndrome ?,"Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear. The protein produced from the MEOX1 gene, called homeobox protein MOX-1, regulates the process that begins separating vertebrae from one another during early development. GDF6 and GDF3 gene mutations that cause Klippel-Feil syndrome likely lead to reduced function of the respective proteins. MEOX1 gene mutations lead to a complete lack of homeobox protein MOX-1. Although the GDF6, GDF3, and homeobox protein MOX-1 proteins are involved in bone development, particularly formation of vertebrae, it is unclear how a shortage of one of these proteins leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome. When Klippel-Feil syndrome is a feature of another disorder, it is caused by mutations in genes involved in the other disorder.",GHR,Klippel-Feil syndrome +Is Klippel-Feil syndrome inherited ?,"When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. As a feature of another disorder, Klippel-Feil syndrome is inherited in whatever pattern the other disorder follows.",GHR,Klippel-Feil syndrome +What are the treatments for Klippel-Feil syndrome ?,"These resources address the diagnosis or management of Klippel-Feil syndrome: - Genetic Testing Registry: Klippel Feil syndrome - Genetic Testing Registry: Klippel-Feil syndrome 1, autosomal dominant - Genetic Testing Registry: Klippel-Feil syndrome 2, autosomal recessive - Genetic Testing Registry: Klippel-Feil syndrome 3, autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Klippel-Feil syndrome +"What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ?","17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation. Hormone imbalances lead to the characteristic signs and symptoms of 17-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17-hydroxylase/17,20-lyase deficiency, which is typically less so. Males and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility). In affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with partial 17-hydroxylase/17,20-lyase deficiency usually have abnormal male genitalia, such as a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17-hydroxylase/17,20-lyase deficiency are also infertile.",GHR,"17 alpha-hydroxylase/17,20-lyase deficiency" +"How many people are affected by 17 alpha-hydroxylase/17,20-lyase deficiency ?","17-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide.",GHR,"17 alpha-hydroxylase/17,20-lyase deficiency" +"What are the genetic changes related to 17 alpha-hydroxylase/17,20-lyase deficiency ?","17-hydroxylase/17,20-lyase deficiency is caused by mutations in the CYP17A1 gene. The protein produced from this gene is involved in the formation of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineralocorticoids, which help regulate the body's salt and water balance; and glucocorticoids, which are involved in maintaining blood sugar levels and regulating the body's response to stress. Steroid hormones are produced through a series of chemical reactions. The CYP17A1 enzyme performs two important reactions in this process. The enzyme has 17 alpha()-hydroxylase activity, which is important for production of glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones. 17-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities. The amount of remaining enzyme activity determines whether a person will have the complete or partial form of the disorder. Individuals with the complete form have CYP17A1 gene mutations that result in the production of an enzyme with very little or no 17-hydroxylase and 17,20-lyase activity. People with the partial form of this condition have CYP17A1 gene mutations that allow some enzyme activity, although at reduced levels. With little or no 17-hydroxylase activity, production of glucocorticoids is impaired, and instead, mineralocorticoids are produced. An excess of these salt-regulating hormones leads to hypertension and hypokalemia. Loss of 17,20-lyase activity impairs sex hormone production. Shortage of these hormones disrupts development of the reproductive system and impairs the onset of puberty in males and females with 17-hydroxylase/17,20-lyase deficiency.",GHR,"17 alpha-hydroxylase/17,20-lyase deficiency" +"Is 17 alpha-hydroxylase/17,20-lyase deficiency inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"17 alpha-hydroxylase/17,20-lyase deficiency" +"What are the treatments for 17 alpha-hydroxylase/17,20-lyase deficiency ?","These resources address the diagnosis or management of 17 alpha-hydroxylase/17,20-lyase deficiency: - Genetic Testing Registry: Deficiency of steroid 17-alpha-monooxygenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"17 alpha-hydroxylase/17,20-lyase deficiency" +What is (are) spastic paraplegia type 15 ?,"Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence with the development of weak muscle tone (hypotonia), difficulty walking, or intellectual disability. In almost all affected individuals, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin and becomes thinner over time. Additionally, there is often a loss (atrophy) of nerve cells in several parts of the brain, including the cerebral cortex, which controls thinking and emotions, and the cerebellum, which coordinates movement. People with this form of spastic paraplegia can have numbness, tingling, or pain in the arms and legs (sensory neuropathy); impairment of the nerves used for muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the lower limbs; muscle wasting (amyotrophy); or reduced bladder control. Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia). People with spastic paraplegia type 15 may have an eye condition called pigmentary maculopathy that often impairs vision. This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision. Most people with spastic paraplegia type 15 experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, many people require walking aids or wheelchair assistance in adulthood.",GHR,spastic paraplegia type 15 +How many people are affected by spastic paraplegia type 15 ?,"Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown.",GHR,spastic paraplegia type 15 +What are the genetic changes related to spastic paraplegia type 15 ?,"Mutations in the ZFYVE26 gene cause spastic paraplegia type 15. This gene provides instructions for making a protein called spastizin. This protein is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. Specifically, spastizin is involved in the formation and maturation of sacs called autophagosomes (or autophagic vacuoles) that transport unneeded materials to be broken down. Spastizin also plays a role in the process by which dividing cells separate from one another (cytokinesis). Many ZFYVE26 gene mutations that cause spastic paraplegia type 15 result in a shortened spastizin protein that is quickly broken down. As a result, functional autophagosomes are not produced, autophagy cannot occur, and recycling of materials within cells is decreased. An inability to break down unneeded materials, and the subsequent accumulation of these materials in cells, leads to cell dysfunction and often cell death. The loss of cells in the brain and other parts of the body is responsible for many of the features of spastic paraplegia type 15. It is unclear whether a lack of spastizin protein interferes with normal cytokinesis and whether impaired cell division contributes to the signs and symptoms of spastic paraplegia type 15.",GHR,spastic paraplegia type 15 +Is spastic paraplegia type 15 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spastic paraplegia type 15 +What are the treatments for spastic paraplegia type 15 ?,"These resources address the diagnosis or management of spastic paraplegia type 15: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Spastic Paraplegia Foundation, Inc: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 15 +What is (are) Char syndrome ?,"Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad. The eyes are wide-set with droopy eyelids (ptosis) and outside corners that point downward (down-slanting palpebral fissures). Additional facial differences include a shortened distance between the nose and upper lip (a short philtrum), a triangular-shaped mouth, and thick, prominent lips. Patent ductus arteriosus is a common heart defect in newborns, and it occurs in most babies with Char syndrome. Before birth, the ductus arteriosus forms a connection between two major arteries (the aorta and the pulmonary artery). This connection normally closes shortly after birth, but it remains open in babies with patent ductus arteriosus. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection. Hand abnormalities are another feature of Char syndrome. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other abnormalities of the hands and feet have been reported but are less common.",GHR,Char syndrome +How many people are affected by Char syndrome ?,"Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.",GHR,Char syndrome +What are the genetic changes related to Char syndrome ?,"Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs. TFAP2B mutations alter the structure of transcription factor AP-2. Some of these mutations prevent the protein from binding to DNA, while other mutations render it unable to regulate the activity of other genes. A loss of this protein's function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.",GHR,Char syndrome +Is Char syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Char syndrome +What are the treatments for Char syndrome ?,These resources address the diagnosis or management of Char syndrome: - Gene Review: Gene Review: Char Syndrome - Genetic Testing Registry: Char syndrome - MedlinePlus Encyclopedia: Patent Ductus Arteriosus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Char syndrome +What is (are) nonsyndromic holoprosencephaly ?,"Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family. Nonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms. People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia). Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member. Most people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.",GHR,nonsyndromic holoprosencephaly +How many people are affected by nonsyndromic holoprosencephaly ?,"Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns.",GHR,nonsyndromic holoprosencephaly +What are the genetic changes related to nonsyndromic holoprosencephaly ?,"Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. These genes provide instructions for making proteins that are important for normal embryonic development, particularly for determining the shape of the brain and face. About 25 percent of people with nonsyndromic holoprosencephaly have a mutation in one of these four genes: SHH, ZIC2, SIX3, or TGIF1. Mutations in the other genes related to nonsyndromic holoprosencephaly are found in only a small percentage of cases. Many individuals with this condition do not have an identified gene mutation. The cause of the disorder is unknown in these individuals. The brain normally divides into right and left hemispheres during the third to fourth week of pregnancy. To establish the line that separates the two hemispheres (the midline), the activity of many genes must be tightly regulated and coordinated. These genes provide instructions for making signaling proteins, which instruct the cells within the brain to form the right and left hemispheres. Signaling proteins are also important for the formation of the eyes. During early development, the cells that develop into the eyes form a single structure called the eye field. This structure is located in the center of the developing face. The signaling protein produced from the SHH gene causes the eye field to separate into two distinct eyes. The SIX3 gene is involved in the formation of the lens of the eye and the specialized tissue at the back of the eye that detects light and color (the retina). Mutations in the genes that cause nonsyndromic holoprosencephaly lead to the production of abnormal or nonfunctional signaling proteins. Without the correct signals, the eyes will not form normally and the brain does not separate into two hemispheres. The development of other parts of the face is affected if the eyes do not move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face. Researchers believe that other genetic or environmental factors, many of which have not been identified, play a role in determining the severity of nonsyndromic holoprosencephaly.",GHR,nonsyndromic holoprosencephaly +Is nonsyndromic holoprosencephaly inherited ?,"Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. In some cases, an affected person inherits the mutation from one parent who may or may not have mild features of the condition. Other cases result from a new gene mutation and occur in people with no history of the disorder in their family.",GHR,nonsyndromic holoprosencephaly +What are the treatments for nonsyndromic holoprosencephaly ?,These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Testing Registry: Holoprosencephaly 2 - Genetic Testing Registry: Holoprosencephaly 3 - Genetic Testing Registry: Holoprosencephaly 4 - Genetic Testing Registry: Holoprosencephaly 5 - Genetic Testing Registry: Holoprosencephaly 6 - Genetic Testing Registry: Holoprosencephaly 7 - Genetic Testing Registry: Holoprosencephaly 8 - Genetic Testing Registry: Holoprosencephaly 9 - Genetic Testing Registry: Holoprosencephaly sequence - Genetic Testing Registry: NODAL-Related Holoprosencephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nonsyndromic holoprosencephaly +What is (are) lactate dehydrogenase deficiency ?,"Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly. People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.",GHR,lactate dehydrogenase deficiency +How many people are affected by lactate dehydrogenase deficiency ?,"Lactate dehydrogenase deficiency is a rare disorder. In Japan, this condition affects 1 in 1 million individuals; the prevalence of lactate dehydrogenase deficiency in other countries is unknown.",GHR,lactate dehydrogenase deficiency +What are the genetic changes related to lactate dehydrogenase deficiency ?,"Mutations in the LDHA gene cause lactate dehydrogenase-A deficiency, and mutations in the LDHB gene cause lactate dehydrogenase-B deficiency. These genes provide instructions for making the lactate dehydrogenase-A and lactate dehydrogenase-B pieces (subunits) of the lactate dehydrogenase enzyme. This enzyme is found throughout the body and is important for creating energy for cells. There are five different forms of this enzyme, each made up of four protein subunits. Various combinations of the lactate dehydrogenase-A and lactate dehydrogenase-B subunits make up the different forms of the enzyme. The version of lactate dehydrogenase made of four lactate dehydrogenase-A subunits is found primarily in skeletal muscles, which are muscles used for movement. Skeletal muscles need large amounts of energy during high-intensity physical activity when the body's oxygen intake is not sufficient for the amount of energy required (anaerobic exercise). During anaerobic exercise, the lactate dehydrogenase enzyme is involved in the breakdown of sugar stored in the muscles (in the form of glycogen) to create additional energy. During the final stage of glycogen breakdown, lactate dehydrogenase converts a molecule called pyruvate to a similar molecule called lactate. Mutations in the LDHA gene result in the production of an abnormal lactate dehydrogenase-A subunit that cannot attach (bind) to other subunits to form the lactate dehydrogenase enzyme. A lack of functional subunit reduces the amount of enzyme that is formed, mostly affecting skeletal muscles. As a result, glycogen is not broken down efficiently, leading to decreased energy in muscle cells. When muscle cells do not get sufficient energy during exercise or strenuous activity, the muscles become weak and muscle tissue can break down, as experienced by people with lactate dehydrogenase-A deficiency. The version of lactate dehydrogenase made of four lactate dehydrogenase-B subunits is found primarily in heart (cardiac) muscle. In cardiac muscle, lactate dehydrogenase converts lactate to pyruvate, which can participate in other chemical reactions to create energy. LDHB gene mutations lead to the production of an abnormal lactate dehydrogenase-B subunit that cannot form the lactate dehydrogenase enzyme. Even though lactate dehydrogenase activity is decreased in the cardiac muscle of people with lactate dehydrogenase-B deficiency, they do not appear to have any signs or symptoms related to their condition. It is unclear why this type of enzyme deficiency does not cause any health problems.",GHR,lactate dehydrogenase deficiency +Is lactate dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,lactate dehydrogenase deficiency +What are the treatments for lactate dehydrogenase deficiency ?,These resources address the diagnosis or management of lactate dehydrogenase deficiency: - Genetic Testing Registry: Glycogen storage disease XI - Genetic Testing Registry: Lactate dehydrogenase B deficiency - MedlinePlus Encyclopedia: LDH Isoenzymes - MedlinePlus Encyclopedia: Lactate Dehydrogenase Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lactate dehydrogenase deficiency +What is (are) Diamond-Blackfan anemia ?,"Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Affected individuals also have an increased risk of developing certain cancers, including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) and a type of bone cancer called osteosarcoma. Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades which are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slow growth leading to short stature. Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias). The severity of Diamond-Blackfan anemia may vary, even within the same family. Increasingly, individuals with ""non-classical"" Diamond-Blackfan anemia have been identified. This form of the disorder typically has less severe symptoms that may include mild anemia beginning in adulthood.",GHR,Diamond-Blackfan anemia +How many people are affected by Diamond-Blackfan anemia ?,Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn infants worldwide.,GHR,Diamond-Blackfan anemia +What are the genetic changes related to Diamond-Blackfan anemia ?,"Diamond-Blackfan anemia can be caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes. These genes provide instructions for making several of the approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins. Each ribosome is made up of two parts (subunits) called the large and small subunits. The RPL5, RPL11, and RPL35A genes provide instructions for making ribosomal proteins that are among those found in the large subunit. The ribosomal proteins produced from the RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes are among those found in the small subunit. The specific functions of each ribosomal protein within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis). Mutations in any of the genes listed above are believed to affect the stability or function of the ribosomal proteins. Studies indicate that a shortage of functioning ribosomal proteins may increase the self-destruction of blood-forming cells in the bone marrow, resulting in anemia. Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems that affect some people with Diamond-Blackfan anemia. Approximately 25 percent of individuals with Diamond-Blackfan anemia have identified mutations in the RPS19 gene. About another 25 to 35 percent of individuals with this disorder have identified mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, or RPS26 genes. In the remaining 40 to 50 percent of cases, the cause of the condition is unknown. Researchers suspect that other genes may also be associated with Diamond-Blackfan anemia.",GHR,Diamond-Blackfan anemia +Is Diamond-Blackfan anemia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Diamond-Blackfan anemia +What are the treatments for Diamond-Blackfan anemia ?,These resources address the diagnosis or management of Diamond-Blackfan anemia: - Gene Review: Gene Review: Diamond-Blackfan Anemia - Genetic Testing Registry: Aase syndrome - Genetic Testing Registry: Diamond-Blackfan anemia - Genetic Testing Registry: Diamond-Blackfan anemia 10 - Genetic Testing Registry: Diamond-Blackfan anemia 2 - Genetic Testing Registry: Diamond-Blackfan anemia 3 - Genetic Testing Registry: Diamond-Blackfan anemia 4 - Genetic Testing Registry: Diamond-Blackfan anemia 5 - Genetic Testing Registry: Diamond-Blackfan anemia 7 - Genetic Testing Registry: Diamond-Blackfan anemia 8 - Genetic Testing Registry: Diamond-Blackfan anemia 9 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Diamond-Blackfan anemia +What is (are) Kawasaki disease ?,"Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet. Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop bulging and thinning of the walls of the arteries that supply blood to the heart muscle (coronary artery aneurysms) or other damage to the coronary arteries, which can be life-threatening.",GHR,Kawasaki disease +How many people are affected by Kawasaki disease ?,"In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan.",GHR,Kawasaki disease +What are the genetic changes related to Kawasaki disease ?,"The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an infection may be involved. However, no infectious agent (such as a virus or bacteria) has been identified. A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease. The ITPKC gene provides instructions for making an enzyme called inositol 1,4,5-trisphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage. Researchers suggest that the ITPKC gene variation may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease. It appears likely that other factors, including changes in other genes, also influence the development of this complex disorder.",GHR,Kawasaki disease +Is Kawasaki disease inherited ?,"A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Children with affected siblings have a tenfold higher risk.",GHR,Kawasaki disease +What are the treatments for Kawasaki disease ?,"These resources address the diagnosis or management of Kawasaki disease: - Cincinnati Children's Hospital Medical Center - Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome - National Heart, Lung, and Blood Institute: How is Kawasaki Disease Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Kawasaki disease +What is (are) autosomal dominant hypocalcemia ?,"Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems. The most common features of autosomal dominant hypocalcemia include muscle spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling or tingling sensations (paresthesias), or twitching of the nerves and muscles (neuromuscular irritability) in various parts of the body. More severely affected individuals develop seizures, usually in infancy or childhood. Sometimes, these symptoms occur only during episodes of illness or fever. Some people with autosomal dominant hypocalcemia have high levels of calcium in their urine (hypercalciuria), which can lead to deposits of calcium in the kidneys (nephrocalcinosis) or the formation of kidney stones (nephrolithiasis). These conditions can damage the kidneys and impair their function. Sometimes, abnormal deposits of calcium form in the brain, typically in structures called basal ganglia, which help control movement. A small percentage of severely affected individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include a shortage of potassium (hypokalemia) and magnesium and a buildup of the hormone aldosterone (hyperaldosteronism) in the blood. The abnormal balance of molecules can raise the pH of the blood, which is known as metabolic alkalosis. The combination of features of these two conditions is sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two types of autosomal dominant hypocalcemia distinguished by their genetic cause. The signs and symptoms of the two types are generally the same.",GHR,autosomal dominant hypocalcemia +How many people are affected by autosomal dominant hypocalcemia ?,The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.,GHR,autosomal dominant hypocalcemia +What are the genetic changes related to autosomal dominant hypocalcemia ?,"Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood. The CASR gene provides instructions for making a protein called the calcium-sensing receptor (CaSR). Calcium molecules attach (bind) to the CaSR protein, which allows this protein to monitor and regulate the amount of calcium in the blood. G11, which is produced from the GNA11 gene, is one component of a signaling protein that works in conjunction with CaSR. When a certain concentration of calcium is reached, CaSR stimulates G11 to send signals to block processes that increase the amount of calcium in the blood. Mutations in the CASR or GNA11 gene lead to overactivity of the respective protein. The altered CaSR protein is more sensitive to calcium, meaning even low levels of calcium can trigger it to stimulate G11 signaling. Similarly, the altered G11 protein continues to send signals to prevent calcium increases, even when levels in the blood are very low. As a result, calcium levels in the blood remain low, causing hypocalcemia. Calcium plays an important role in the control of muscle movement, and a shortage of this molecule can lead to cramping or twitching of the muscles. Impairment of the processes that increase calcium can also disrupt the normal regulation of other molecules, such as phosphate and magnesium, leading to other signs of autosomal dominant hypocalcemia. Studies show that the lower the amount of calcium in the blood, the more severe the symptoms of the condition are.",GHR,autosomal dominant hypocalcemia +Is autosomal dominant hypocalcemia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small number of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,autosomal dominant hypocalcemia +What are the treatments for autosomal dominant hypocalcemia ?,These resources address the diagnosis or management of autosomal dominant hypocalcemia: - Genetic Testing Registry: Autosomal dominant hypocalcemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal dominant hypocalcemia +What is (are) PMM2-congenital disorder of glycosylation ?,"PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family. Individuals with PMM2-CDG typically develop signs and symptoms of the condition during infancy. Affected infants may have weak muscle tone (hypotonia), retracted (inverted) nipples, an abnormal distribution of fat, eyes that do not look in the same direction (strabismus), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with PMM2-CDG also frequently have an underdeveloped cerebellum, which is the part of the brain that coordinates movement. Distinctive facial features are sometimes present in affected individuals, including a high forehead, a triangular face, large ears, and a thin upper lip. Children with PMM2-CDG may also have elevated liver function test results, seizures, fluid around the heart (pericardial effusion), and blood clotting disorders. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of PMM2-CDG are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. People with PMM2-CDG who survive infancy may have moderate intellectual disability, and some are unable to walk independently. Affected individuals may also experience stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. Recovery from these episodes usually occurs over a period of a few weeks to several months. During adolescence or adulthood, individuals with PMM2-CDG have reduced sensation and weakness in their arms and legs (peripheral neuropathy), an abnormal curvature of the spine (kyphoscoliosis), impaired muscle coordination (ataxia), and joint deformities (contractures). Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, females with PMM2-CDG do not go through puberty. Affected males experience normal puberty but often have small testes.",GHR,PMM2-congenital disorder of glycosylation +How many people are affected by PMM2-congenital disorder of glycosylation ?,More than 800 individuals with PMM2-CDG have been identified worldwide.,GHR,PMM2-congenital disorder of glycosylation +What are the genetic changes related to PMM2-congenital disorder of glycosylation ?,"PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues.",GHR,PMM2-congenital disorder of glycosylation +Is PMM2-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,PMM2-congenital disorder of glycosylation +What are the treatments for PMM2-congenital disorder of glycosylation ?,These resources address the diagnosis or management of PMM2-CDG: - Gene Review: Gene Review: PMM2-CDG (CDG-Ia) - Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,PMM2-congenital disorder of glycosylation +What is (are) carnitine palmitoyltransferase I deficiency ?,"Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood. Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CPT I deficiency can also have an enlarged liver (hepatomegaly), liver malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Problems related to CPT I deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,carnitine palmitoyltransferase I deficiency +How many people are affected by carnitine palmitoyltransferase I deficiency ?,CPT I deficiency is a rare disorder; fewer than 50 affected individuals have been identified. This disorder may be more common in the Hutterite and Inuit populations.,GHR,carnitine palmitoyltransferase I deficiency +What are the genetic changes related to carnitine palmitoyltransferase I deficiency ?,"Mutations in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids cannot enter mitochondria unless they are attached to carnitine. Carnitine palmitoyltransferase 1A connects carnitine to long-chain fatty acids so they can enter mitochondria and be used to produce energy. During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues. Mutations in the CPT1A gene severely reduce or eliminate the activity of carnitine palmitoyltransferase 1A. Without enough of this enzyme, carnitine is not attached to long-chain fatty acids. As a result, these fatty acids cannot enter mitochondria and be converted into energy. Reduced energy production can lead to some of the features of CPT I deficiency, such as hypoketotic hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of the disorder.",GHR,carnitine palmitoyltransferase I deficiency +Is carnitine palmitoyltransferase I deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,carnitine palmitoyltransferase I deficiency +What are the treatments for carnitine palmitoyltransferase I deficiency ?,These resources address the diagnosis or management of CPT I deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase 1A Deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase I deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,carnitine palmitoyltransferase I deficiency +What is (are) inherited thyroxine-binding globulin deficiency ?,"Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.",GHR,inherited thyroxine-binding globulin deficiency +How many people are affected by inherited thyroxine-binding globulin deficiency ?,"The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel.",GHR,inherited thyroxine-binding globulin deficiency +What are the genetic changes related to inherited thyroxine-binding globulin deficiency ?,"Inherited thyroxine-binding globulin deficiency results from mutations in the SERPINA7 gene. This gene provides instructions for making thyroxine-binding globulin. Some mutations in the SERPINA7 gene prevent the production of a functional protein, causing TBG-CD. Other mutations reduce the amount of this protein or alter its structure, resulting in TBG-PD. Researchers have also described non-inherited forms of thyroxine-binding globulin deficiency, which are more common than the inherited form. Non-inherited thyroxine-binding globulin deficiency can occur with a variety of illnesses and is a side effect of some medications.",GHR,inherited thyroxine-binding globulin deficiency +Is inherited thyroxine-binding globulin deficiency inherited ?,"Inherited thyroxine-binding globulin deficiency has an X-linked pattern of inheritance. The SERPINA7 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes partial or complete inherited thyroxine-binding globulin deficiency. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell reduces the amount of thyroxine-binding globulin. However, their levels of this protein are usually within the normal range. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,inherited thyroxine-binding globulin deficiency +What are the treatments for inherited thyroxine-binding globulin deficiency ?,These resources address the diagnosis or management of inherited thyroxine-binding globulin deficiency: - American Thyroid Association: Thyroid Function Tests - MedlinePlus Encyclopedia: Serum TBG Level These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,inherited thyroxine-binding globulin deficiency +What is (are) dyserythropoietic anemia and thrombocytopenia ?,"Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term ""dyserythropoietic"" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia. The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals. Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.",GHR,dyserythropoietic anemia and thrombocytopenia +How many people are affected by dyserythropoietic anemia and thrombocytopenia ?,"Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia.",GHR,dyserythropoietic anemia and thrombocytopenia +What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ?,"Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. To function properly, these immature cells must differentiate into specific types of mature blood cells. Through its activity as a transcription factor and its interactions with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation. GATA1 gene mutations disrupt the protein's ability to bind with DNA or interact with other proteins. These impairments in the GATA1 protein's normal function result in an increased proliferation of megakaryocytes and a decrease in mature platelets, leading to abnormal bleeding. An abnormal GATA1 protein causes immature red blood cells to undergo a form of programmed cell death called apoptosis. A lack of immature red blood cells results in decreased amounts of specialized, mature red blood cells, leading to anemia. The severity of dyserythropoietic anemia and thrombocytopenia can usually be predicted by the type of GATA1 gene mutation. When the two blood disorders dyserythropoietic anemia and thrombocytopenia occur separately, each of the conditions can result from many different factors. The occurrence of these disorders together is characteristic of mutations in the GATA1 gene.",GHR,dyserythropoietic anemia and thrombocytopenia +Is dyserythropoietic anemia and thrombocytopenia inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males or may cause no symptoms in females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,dyserythropoietic anemia and thrombocytopenia +What are the treatments for dyserythropoietic anemia and thrombocytopenia ?,These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dyserythropoietic anemia and thrombocytopenia +What is (are) Lafora progressive myoclonus epilepsy ?,"Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes. About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition progresses, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.",GHR,Lafora progressive myoclonus epilepsy +How many people are affected by Lafora progressive myoclonus epilepsy ?,"The prevalence of Lafora progressive myoclonus epilepsy is unknown. Although the condition occurs worldwide, it appears to be most common in Mediterranean countries (including Spain, France, and Italy), parts of Central Asia, India, Pakistan, North Africa, and the Middle East.",GHR,Lafora progressive myoclonus epilepsy +What are the genetic changes related to Lafora progressive myoclonus epilepsy ?,"Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that laforin and malin work together and may have several functions. One of these is to help regulate the production of a complex sugar called glycogen, which is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Laforin and malin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system. Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells. Neurons appear to be particularly vulnerable to this type of damage. Although Lafora bodies are found in many of the body's tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy are limited to the nervous system. Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. However, a loss of laforin or malin ultimately results in the death of neurons, which interferes with the brain's normal functions. The condition tends to progress more slowly in some people with NHLRC1 gene mutations than in those with EPM2A gene mutations. Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. In the remaining cases, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie this disease.",GHR,Lafora progressive myoclonus epilepsy +Is Lafora progressive myoclonus epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Lafora progressive myoclonus epilepsy +What are the treatments for Lafora progressive myoclonus epilepsy ?,"These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy: - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type - Genetic Testing Registry: Lafora disease - MedlinePlus Encyclopedia: Epilepsy - MedlinePlus Encyclopedia:Generalized Tonic-Clonic Seizure These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Lafora progressive myoclonus epilepsy +What is (are) mucopolysaccharidosis type I ?,"Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally begin to show other signs and symptoms of the disorder within the first year of life, while those with the attenuated form have milder features that develop later in childhood. Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as ""coarse,"" an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). People with MPS I often develop clouding of the clear covering of the eye (cornea), which can cause significant vision loss. Affected individuals may also have hearing loss and recurrent ear infections. Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. While both forms of MPS I can affect many different organs and tissues, people with severe MPS I experience a decline in intellectual function and a more rapid disease progression. Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress). Children with this form of the disorder usually have a shortened lifespan, sometimes living only into late childhood. Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Some people with the attenuated type have learning disabilities, while others have no intellectual impairments. Heart disease and airway obstruction are major causes of death in people with both types of MPS I.",GHR,mucopolysaccharidosis type I +How many people are affected by mucopolysaccharidosis type I ?,"Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.",GHR,mucopolysaccharidosis type I +What are the genetic changes related to mucopolysaccharidosis type I ?,"Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.",GHR,mucopolysaccharidosis type I +Is mucopolysaccharidosis type I inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucopolysaccharidosis type I +What are the treatments for mucopolysaccharidosis type I ?,These resources address the diagnosis or management of mucopolysaccharidosis type I: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type I - Genetic Testing Registry: Mucopolysaccharidosis type I - MedlinePlus Encyclopedia: Hurler Syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides - MedlinePlus Encyclopedia: Scheie Syndrome - National MPS Society: Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucopolysaccharidosis type I +What is (are) Langer mesomelic dysplasia ?,"Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).",GHR,Langer mesomelic dysplasia +How many people are affected by Langer mesomelic dysplasia ?,"The prevalence of Langer mesomelic dysplasia is unknown, although the condition appears to be rare. Several dozen affected individuals have been reported in the scientific literature.",GHR,Langer mesomelic dysplasia +What are the genetic changes related to Langer mesomelic dysplasia ?,"Langer mesomelic dysplasia results from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX gene. Other genetic changes that can cause the disorder include mutations in the SHOX gene or deletions of nearby genetic material that normally helps regulate the gene's activity. These changes greatly reduce or eliminate the amount of SHOX protein that is produced. A lack of this protein disrupts normal bone development and growth, which underlies the severe skeletal abnormalities associated with Langer mesomelic dysplasia.",GHR,Langer mesomelic dysplasia +Is Langer mesomelic dysplasia inherited ?,"Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Langer mesomelic dysplasia is described as recessive because both copies of the SHOX gene in each cell must be missing or altered to cause the disorder. In females, the condition results when the gene is missing or altered on both copies of the X chromosome; in males, it results when the gene is missing or altered on the X chromosome and the Y chromosome. A related skeletal disorder called Lri-Weill dyschondrosteosis occurs when one copy of the SHOX gene is mutated in each cell. This disorder has signs and symptoms that are similar to, but typically less severe than, those of Langer mesomelic dysplasia.",GHR,Langer mesomelic dysplasia +What are the treatments for Langer mesomelic dysplasia ?,These resources address the diagnosis or management of Langer mesomelic dysplasia: - Genetic Testing Registry: Langer mesomelic dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Langer mesomelic dysplasia +What is (are) Legius syndrome ?,"Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder (ADD), or attention deficit hyperactivity disorder (ADHD). Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.",GHR,Legius syndrome +How many people are affected by Legius syndrome ?,The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.,GHR,Legius syndrome +What are the genetic changes related to Legius syndrome ?,"Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Mutations in the SPRED1 gene lead to a nonfunctional protein that can no longer regulate the pathway, resulting in overactive signaling. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.",GHR,Legius syndrome +Is Legius syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Legius syndrome +What are the treatments for Legius syndrome ?,These resources address the diagnosis or management of Legius syndrome: - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis - Gene Review: Gene Review: Legius Syndrome - Genetic Testing Registry: Legius syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Legius syndrome +What is (are) Huntington disease ?,"Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin. A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.",GHR,Huntington disease +How many people are affected by Huntington disease ?,"Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.",GHR,Huntington disease +What are the genetic changes related to Huntington disease ?,"Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.",GHR,Huntington disease +Is Huntington disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats. Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).",GHR,Huntington disease +What are the treatments for Huntington disease ?,These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Testing for Huntington Disease: Making an Informed Choice These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Huntington disease +What is (are) familial thoracic aortic aneurysm and dissection ?,"Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture). The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation. Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.",GHR,familial thoracic aortic aneurysm and dissection +How many people are affected by familial thoracic aortic aneurysm and dissection ?,"Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysms are common worldwide, it is difficult to determine their exact prevalence because they usually cause no symptoms unless they rupture. Ruptured aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in the United States each year.",GHR,familial thoracic aortic aneurysm and dissection +What are the genetic changes related to familial thoracic aortic aneurysm and dissection ?,"Mutations in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of cases. The ACTA2 gene provides instructions for making a protein called smooth muscle alpha ()-2 actin, which is found in vascular smooth muscle cells. Layers of these cells are found in the walls of the aorta and other arteries. Within vascular smooth muscle cells, smooth muscle -2 actin forms the core of structures called sarcomeres, which are necessary for muscles to contract. This ability to contract allows the arteries to maintain their shape instead of stretching out as blood is pumped through them. ACTA2 gene mutations that are associated with familial TAAD change single protein building blocks (amino acids) in the smooth muscle -2 actin protein. These changes likely affect the way the protein functions in smooth muscle contraction, interfering with the sarcomeres' ability to prevent the arteries from stretching. The aorta, where the force of blood pumped directly from the heart is most intense, is particularly vulnerable to this stretching. Abnormal stretching of the aorta results in the aortic dilatation, aneurysms, and dissections that characterize familial TAAD. TGFBR2 gene mutations are also associated with familial TAAD. The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-) receptor type 2. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell. In particular, the TGF- receptor type 2 protein helps control the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). It is also involved in the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells. TGFBR2 gene mutations alter the receptor's structure, which disturbs signal transduction. The disturbed signaling can impair cell growth and development. It is not known how these changes result in the specific aortic abnormalities associated with familial TAAD. Mutations in other genes, some of which have not been identified, are also associated with familial TAAD.",GHR,familial thoracic aortic aneurysm and dissection +Is familial thoracic aortic aneurysm and dissection inherited ?,"Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance.",GHR,familial thoracic aortic aneurysm and dissection +What are the treatments for familial thoracic aortic aneurysm and dissection ?,"These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 6 - Genetic Testing Registry: Congenital aneurysm of ascending aorta - Genetic Testing Registry: Thoracic aortic aneurysm and aortic dissection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial thoracic aortic aneurysm and dissection +What is (are) distal arthrogryposis type 1 ?,"Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term ""arthrogryposis"" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.",GHR,distal arthrogryposis type 1 +How many people are affected by distal arthrogryposis type 1 ?,"Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people worldwide.",GHR,distal arthrogryposis type 1 +What are the genetic changes related to distal arthrogryposis type 1 ?,"Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1. However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth. In some cases, the genetic cause of distal arthrogryposis type 1 is unknown. Researchers are looking for additional genetic changes that may be responsible for this condition.",GHR,distal arthrogryposis type 1 +Is distal arthrogryposis type 1 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition.",GHR,distal arthrogryposis type 1 +What are the treatments for distal arthrogryposis type 1 ?,These resources address the diagnosis or management of distal arthrogryposis type 1: - Genetic Testing Registry: Arthrogryposis multiplex congenita distal type 1 - Merck Manual for Health Care Professionals - New York University Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,distal arthrogryposis type 1 +What is (are) chronic granulomatous disease ?,"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.",GHR,chronic granulomatous disease +How many people are affected by chronic granulomatous disease ?,"Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide.",GHR,chronic granulomatous disease +What are the genetic changes related to chronic granulomatous disease ?,"Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. Within phagocytes, NADPH oxidase is involved in the production of a toxic molecule called superoxide. Superoxide is used to generate other toxic substances, which play a role in killing foreign invaders and preventing them from reproducing in the body and causing illness. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body. Mutations in the CYBA, CYBB, NCF1, NCF2, and NCF4 genes result in the production of proteins with little or no function or the production of no protein at all. Mutations in the genes that cause chronic granulomatous disease that prevent the production of any functional protein are designated ""0"". For example, mutations in the CYBB gene that lead to no functional beta chain are designated CYBB0. Mutations that lead to a reduction of the amount of protein produced are designated ""-"", for example, CYBB-. Without any one of its subunit proteins, NADPH oxidase cannot assemble or function properly. As a result, phagocytes are unable to kill foreign invaders and neutrophil activity is not regulated. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection and excessive inflammation. Some people with chronic granulomatous disease do not have an identified mutation in any of these genes. The cause of the condition in these individuals is unknown.",GHR,chronic granulomatous disease +Is chronic granulomatous disease inherited ?,"When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, females with one altered copy of the CYBB gene have mild symptoms of chronic granulomatous disease, such as an increased frequency of bacterial or fungal infections. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Men and women are affected by autosomal recessive conditions equally.",GHR,chronic granulomatous disease +What are the treatments for chronic granulomatous disease ?,"These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 - Genetic Testing Registry: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 - Genetic Testing Registry: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative - MedlinePlus Encyclopedia: Chronic Granulomatous Disease - Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,chronic granulomatous disease +What is (are) factor X deficiency ?,"Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.",GHR,factor X deficiency +How many people are affected by factor X deficiency ?,Factor X deficiency occurs in approximately 1 per million individuals worldwide.,GHR,factor X deficiency +What are the genetic changes related to factor X deficiency ?,"The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. Some F10 gene mutations that cause factor X deficiency reduce the amount of coagulation factor X in the bloodstream, resulting in a form of the disorder called type I. Other F10 gene mutations result in the production of a coagulation factor X protein with impaired function, leading to type II factor X deficiency. Reduced quantity or function of coagulation factor X prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. A non-inherited form of the disorder, called acquired factor X deficiency, is more common than the congenital form. Acquired factor X deficiency can be caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal proteins called amyloids. Acquired factor X deficiency can also be caused by certain drugs such as medicines that prevent clotting, or by a deficiency of vitamin K.",GHR,factor X deficiency +Is factor X deficiency inherited ?,"When this condition is caused by mutations in the F10 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Acquired factor X deficiency is not inherited, and generally occurs in individuals with no history of the disorder in their family.",GHR,factor X deficiency +What are the treatments for factor X deficiency ?,These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,factor X deficiency +What is (are) osteopetrosis ?,"Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schnberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.",GHR,osteopetrosis +How many people are affected by osteopetrosis ?,"Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. Other forms of osteopetrosis are very rare. Only a few cases of intermediate autosomal osteopetrosis and OL-EDA-ID have been reported in the medical literature.",GHR,osteopetrosis +What are the genetic changes related to osteopetrosis ?,"Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 gene mutations cause about 50 percent of cases of autosomal recessive osteopetrosis. Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts. These cells break down bone tissue during bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in any of the genes associated with osteopetrosis lead to abnormal or missing osteoclasts. Without functional osteoclasts, old bone is not broken down as new bone is formed. As a result, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making them prone to fracture. These problems with bone remodeling underlie all of the major features of osteopetrosis.",GHR,osteopetrosis +Is osteopetrosis inherited ?,"Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected parent. Osteopetrosis can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. OL-EDA-ID is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,osteopetrosis +What are the treatments for osteopetrosis ?,"These resources address the diagnosis or management of osteopetrosis: - Gene Review: Gene Review: CLCN7-Related Osteopetrosis - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema - Genetic Testing Registry: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 - Genetic Testing Registry: Osteopetrosis and infantile neuroaxonal dystrophy - Genetic Testing Registry: Osteopetrosis autosomal dominant type 2 - Genetic Testing Registry: Osteopetrosis autosomal recessive 1 - Genetic Testing Registry: Osteopetrosis autosomal recessive 2 - Genetic Testing Registry: Osteopetrosis autosomal recessive 4 - Genetic Testing Registry: Osteopetrosis autosomal recessive 6 - Genetic Testing Registry: Osteopetrosis autosomal recessive 7 - Genetic Testing Registry: Osteopetrosis with renal tubular acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,osteopetrosis +What is (are) leukocyte adhesion deficiency type 1 ?,"Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections. One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the detachment of the umbilical cord stump after birth. In newborns, the stump normally falls off within the first two weeks of life; but, in infants with leukocyte adhesion deficiency type 1, this separation usually occurs at three weeks or later. In addition, affected infants often have inflammation of the umbilical cord stump (omphalitis) due to a bacterial infection. In leukocyte adhesion deficiency type 1, bacterial and fungal infections most commonly occur on the skin and mucous membranes such as the moist lining of the nose and mouth. In childhood, people with this condition develop severe inflammation of the gums (gingivitis) and other tissue around the teeth (periodontitis), which often results in the loss of both primary and permanent teeth. These infections often spread to cover a large area. A hallmark of leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites of infection. In people with this condition, wounds are slow to heal, which can lead to additional infection. Life expectancy in individuals with leukocyte adhesion deficiency type 1 is often severely shortened. Due to repeat infections, affected individuals may not survive past infancy.",GHR,leukocyte adhesion deficiency type 1 +How many people are affected by leukocyte adhesion deficiency type 1 ?,Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million people worldwide. At least 300 cases of this condition have been reported in the scientific literature.,GHR,leukocyte adhesion deficiency type 1 +What are the genetic changes related to leukocyte adhesion deficiency type 1 ?,"Mutations in the ITGB2 gene cause leukocyte adhesion deficiency type 1. This gene provides instructions for making one part (the 2 subunit) of at least four different proteins known as 2 integrins. Integrins that contain the 2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). These integrins help leukocytes gather at sites of infection or injury, where they contribute to the immune response. 2 integrins recognize signs of inflammation and attach (bind) to proteins called ligands on the lining of blood vessels. This binding leads to linkage (adhesion) of the leukocyte to the blood vessel wall. Signaling through the 2 integrins triggers the transport of the attached leukocyte across the blood vessel wall to the site of infection or injury. ITGB2 gene mutations that cause leukocyte adhesion deficiency type 1 lead to the production of a 2 subunit that cannot bind with other subunits to form 2 integrins. Leukocytes that lack these integrins cannot attach to the blood vessel wall or cross the vessel wall to contribute to the immune response. As a result, there is a decreased response to injury and foreign invaders, such as bacteria and fungi, resulting in frequent infections, delayed wound healing, and other signs and symptoms of this condition.",GHR,leukocyte adhesion deficiency type 1 +Is leukocyte adhesion deficiency type 1 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,leukocyte adhesion deficiency type 1 +What are the treatments for leukocyte adhesion deficiency type 1 ?,These resources address the diagnosis or management of leukocyte adhesion deficiency type 1: - Genetic Testing Registry: Leukocyte adhesion deficiency type 1 - MedlinePlus Encyclopedia: Gingivitis - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,leukocyte adhesion deficiency type 1 +What is (are) Charcot-Marie-Tooth disease ?,"Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Some people never realize they have the disorder, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision. There are several types of Charcot-Marie-Tooth disease. Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct nerve impulses. These abnormalities slow the transmission of nerve impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body and transmits nerve impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or myelin and is distinguished from the other types by its pattern of inheritance. In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both axons and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in a gene on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) are distinguished by the specific gene that is altered. Sometimes other, more historical names are used to describe this disorder. For example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth disease type 3 (CMT3). Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition is not actually a form of Charcot-Marie-Tooth disease. Instead, they classify it as a separate disorder characterized by peripheral nerve problems, deafness, and vision loss.",GHR,Charcot-Marie-Tooth disease +How many people are affected by Charcot-Marie-Tooth disease ?,"Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.",GHR,Charcot-Marie-Tooth disease +What are the genetic changes related to Charcot-Marie-Tooth disease ?,"Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles and to transmit sensory signals to the brain. The list of genes associated with Charcot-Marie-Tooth disease continues to grow as researchers study this disorder. Different mutations within a particular gene may cause signs and symptoms of differing severities or lead to different types of Charcot-Marie-Tooth disease. CMT1 is caused by mutations in the following genes: PMP22 (CMT1A and CMT1E), MPZ (CMT1B), LITAF (CMT1C), EGR2 (CMT1D), and NEFL (CMT1F). CMT2 can result from alterations in many genes, including MFN2 and KIF1B (CMT2A); RAB7A (CMT2B); LMNA (CMT2B1); TRPV4 (CMT2C); BSCL2 and GARS (CMT2D); NEFL (CMT2E); HSPB1 (CMT2F); MPZ (CMT2I and CMT2J); GDAP1 (CMT2K); and HSPB8 (CMT2L). Certain DNM2 gene mutations also cause a form of CMT2. CMT4 is caused by mutations in the following genes: GDAP1 (CMT4A), MTMR2 (CMT4B1), SBF2 (CMT4B2), SH3TC2 (CMT4C), NDRG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FGD4 (CMT4H), and FIG4 (CMT4J). Intermediate forms of the disorder can be caused by alterations in genes including DNM2, MPZ, YARS, and GDAP1. CMTX is caused by mutations in genes including GJB1 (CMTX1) and PRPS1 (CMTX5). Mutations in additional genes, some of which have not been identified, also cause various forms of Charcot-Marie-Tooth disease.",GHR,Charcot-Marie-Tooth disease +Is Charcot-Marie-Tooth disease inherited ?,"The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. CMT4, a few CMT2 subtypes, and some intermediate forms are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. CMTX is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome. The inheritance is dominant if one copy of the altered gene is sufficient to cause the condition. In most cases, affected males, who have the alteration on their only copy of the X chromosome, experience more severe symptoms of the disorder than females, who have two X chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. All daughters of affected men will have one altered X chromosome, but they may only have mild symptoms of the disorder. Some cases of Charcot-Marie-Tooth disease result from a new mutation and occur in people with no history of the disorder in their family.",GHR,Charcot-Marie-Tooth disease +What are the treatments for Charcot-Marie-Tooth disease ?,"These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2E/1F - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4C - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 5 - Gene Review: Gene Review: DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Charcot-Marie-Tooth disease - Genetic Testing Registry: Charcot-Marie-Tooth disease dominant intermediate 3 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 1B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2C - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2D - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2E - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2F - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2I - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2J - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2K - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2P - Genetic Testing Registry: Charcot-Marie-Tooth disease, X-linked recessive, type 5 - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, type 2O - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate C - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate E - Genetic Testing Registry: Charcot-Marie-Tooth disease, recessive intermediate A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 1C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2L - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2N - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4D - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4H - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4J - Genetic Testing Registry: Charcot-Marie-Tooth disease, type I - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IA - Genetic Testing Registry: Charcot-Marie-Tooth disease, type ID - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IE - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IF - Genetic Testing Registry: Congenital hypomyelinating neuropathy - Genetic Testing Registry: DNM2-related intermediate Charcot-Marie-Tooth neuropathy - Genetic Testing Registry: Dejerine-Sottas disease - Genetic Testing Registry: Roussy-Lvy syndrome - Genetic Testing Registry: X-linked hereditary motor and sensory neuropathy - MedlinePlus Encyclopedia: Charcot-Marie-Tooth Disease - MedlinePlus Encyclopedia: Hammer Toe - MedlinePlus Encyclopedia: High Arch These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Charcot-Marie-Tooth disease +What is (are) Griscelli syndrome ?,"Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.",GHR,Griscelli syndrome +How many people are affected by Griscelli syndrome ?,Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.,GHR,Griscelli syndrome +What are the genetic changes related to Griscelli syndrome ?,"The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. The proteins produced from these genes are found in pigment-producing cells called melanocytes. Within these cells, the proteins work together to transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanosomes are formed near the center of melanocytes, but they must be transported to the outer edge of these cells and then transferred into other types of cells to provide normal pigmentation. Mutations in any of the three genes, MYO5A, RAB27A, or MLPH, impair the normal transport of melanosomes within melanocytes. As a result, these structures clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair. The clumps of pigment, which can be seen in hair shafts when viewed under a microscope, are a hallmark feature of the condition. In addition to their roles in melanosome transport, the MYO5A and RAB27A genes have functions elsewhere in the body. Specifically, the protein produced from the MYO5A gene transports materials within nerve cells (neurons) that appear to be critical for cell function. The protein produced from the RAB27A gene is found in immune system cells, where it is involved in the release of certain compounds that kill foreign invaders (such as viruses and bacteria). Mutations in these genes impair these critical cell activities, leading to the neurological problems and immune system abnormalities found in Griscelli syndrome types 1 and 2, respectively.",GHR,Griscelli syndrome +Is Griscelli syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Griscelli syndrome +What are the treatments for Griscelli syndrome ?,These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Griscelli syndrome +What is (are) junctional epidermolysis bullosa ?,"Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: Herlitz JEB and non-Herlitz JEB. Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. Herlitz JEB is the more severe form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children have chronic malnutrition and slow growth. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing. Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Because the signs and symptoms of Herlitz JEB are so severe, infants with this condition usually do not survive beyond the first year of life. The milder form of junctional epidermolysis bullosa is called non-Herlitz JEB. The blistering associated with non-Herlitz JEB may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this condition include alopecia, malformed fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. Non-Herlitz JEB is typically associated with a normal lifespan.",GHR,junctional epidermolysis bullosa +How many people are affected by junctional epidermolysis bullosa ?,"Both types of junctional epidermolysis bullosa are rare, affecting fewer than 1 per million people in the United States.",GHR,junctional epidermolysis bullosa +What are the genetic changes related to junctional epidermolysis bullosa ?,"Junctional epidermolysis bullosa results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause Herlitz JEB or non-Herlitz JEB. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. The LAMA3, LAMB3, and LAMC2 genes each provide instructions for making one part (subunit) of a protein called laminin 332. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in any of the three laminin 332 genes lead to the production of a defective or nonfunctional version of this protein. Without functional laminin 332, cells in the epidermis are fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters. The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type XVII collagen helps attach the epidermis to underlying layers of skin, making the skin strong and flexible. Mutations in the COL17A1 gene prevent the normal formation of collagen XVII. As a result, the skin is less resistant to friction and minor trauma and blisters easily. Most COL17A1 gene mutations cause non-Herlitz JEB, although a few individuals with mutations in this gene have had the more severe Herlitz JEB.",GHR,junctional epidermolysis bullosa +Is junctional epidermolysis bullosa inherited ?,"Both types of junctional epidermolysis bullosa are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,junctional epidermolysis bullosa +What are the treatments for junctional epidermolysis bullosa ?,"These resources address the diagnosis or management of junctional epidermolysis bullosa: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Junctional Epidermolysis Bullosa - Genetic Testing Registry: Adult junctional epidermolysis bullosa - Genetic Testing Registry: Epidermolysis bullosa, junctional - Genetic Testing Registry: Junctional epidermolysis bullosa gravis of Herlitz - MedlinePlus Encyclopedia: Epidermolysis Bullosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,junctional epidermolysis bullosa +What is (are) Horner syndrome ?,"Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). Horner syndrome is characterized by drooping of the upper eyelid (ptosis) on the affected side, a constricted pupil in the affected eye (miosis) resulting in unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the affected side of the face. Sinking of the eye into its cavity (enophthalmos) and a bloodshot eye often occur in this disorder. In people with Horner syndrome that occurs before the age of 2, the colored part (iris) of the eyes may differ in color (iris heterochromia), with the iris of the affected eye being lighter in color than that of the unaffected eye. Individuals who develop Horner syndrome after age 2 do not generally have iris heterochromia. The abnormalities in the eye area related to Horner syndrome do not generally affect vision or health. However, the nerve damage that causes Horner syndrome may result from other health problems, some of which can be life-threatening.",GHR,Horner syndrome +How many people are affected by Horner syndrome ?,"About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder.",GHR,Horner syndrome +What are the genetic changes related to Horner syndrome ?,"Although congenital Horner syndrome can be passed down in families, no associated genes have been identified. Horner syndrome that appears after the newborn period (acquired Horner syndrome) and most cases of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong to the part of the nervous system that controls involuntary functions (the autonomic nervous system). Within the autonomic nervous system, the nerves are part of a subdivision called the sympathetic nervous system. The cervical sympathetic nerves control several functions in the eye and face such as dilation of the pupil and sweating. Problems with the function of these nerves cause the signs and symptoms of Horner syndrome. Horner syndrome that occurs very early in life can lead to iris heterochromia because the development of the pigmentation (coloring) of the iris is under the control of the cervical sympathetic nerves. Damage to the cervical sympathetic nerves can be caused by a direct injury to the nerves themselves, which can result from trauma that might occur during a difficult birth, surgery, or accidental injury. The nerves related to Horner syndrome can also be damaged by a benign or cancerous tumor, for example a childhood cancer of the nerve tissues called a neuroblastoma. Horner syndrome can also be caused by problems with the artery that supplies blood to the head and neck (the carotid artery) on the affected side, resulting in loss of blood flow to the nerves. Some individuals with congenital Horner syndrome have a lack of development (agenesis) of the carotid artery. Tearing of the layers of the carotid artery wall (carotid artery dissection) can also lead to Horner syndrome. The signs and symptoms of Horner syndrome can also occur during a migraine headache. When the headache is gone, the signs and symptoms of Horner syndrome usually also go away. Some people with Horner syndrome have neither a known problem that would lead to nerve damage nor any history of the disorder in their family. These cases are referred to as idiopathic Horner syndrome.",GHR,Horner syndrome +Is Horner syndrome inherited ?,"Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal dominant, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, no genes associated with Horner syndrome have been identified.",GHR,Horner syndrome +What are the treatments for Horner syndrome ?,"These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Horner syndrome +What is (are) familial erythrocytosis ?,"Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.",GHR,familial erythrocytosis +How many people are affected by familial erythrocytosis ?,Familial erythrocytosis is a rare condition; its prevalence is unknown.,GHR,familial erythrocytosis +What are the genetic changes related to familial erythrocytosis ?,"Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered. The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of new red blood cells. Erythropoietin fits into the receptor like a key into a lock, triggering signaling pathways that lead to the formation of red blood cells. Mutations in the EPOR gene cause the erythropoietin receptor to be turned on for an abnormally long time after attaching to erythropoietin. The overactive receptor signals the production of red blood cells even when they are not needed, which results in an excess of these cells in the bloodstream. When familial erythrocytosis is caused by mutations in the EPOR gene, it is known as ECYT1. The proteins produced from the VHL, EGLN1, and EPAS1 genes are also involved in red blood cell production; they each play a role in regulating erythropoietin. The protein produced from the EPAS1 gene is one component of a protein complex called hypoxia-inducible factor (HIF). When oxygen levels are lower than normal (hypoxia), HIF activates genes that help the body adapt, including the gene that provides instructions for making erythropoietin. Erythropoietin stimulates the production of more red blood cells to carry oxygen to organs and tissues. The proteins produced from the VHL and EGLN1 genes indirectly regulate erythropoietin by controlling the amount of available HIF. Mutations in any of these three genes can disrupt the regulation of red blood cell formation, leading to an overproduction of these cells. When familial erythrocytosis results from VHL gene mutations it is known as ECYT2; when the condition is caused by EGLN1 gene mutations it is called ECYT3; and when the condition results from EPAS1 gene mutations it is known as ECYT4. Researchers have also described non-familial (acquired) forms of erythrocytosis. Causes of acquired erythrocytosis include long-term exposure to high altitude, chronic lung or heart disease, episodes in which breathing slows or stops for short periods during sleep (sleep apnea), and certain types of tumors. Another form of acquired erythrocytosis, called polycythemia vera, results from somatic (non-inherited) mutations in other genes involved in red blood cell production. In some cases, the cause of erythrocytosis is unknown.",GHR,familial erythrocytosis +Is familial erythrocytosis inherited ?,"Familial erythrocytosis can have different inheritance patterns depending on the gene involved. When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals inherit the altered gene from one affected parent. When familial erythrocytosis is caused by mutations in the VHL gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,familial erythrocytosis +What are the treatments for familial erythrocytosis ?,"These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlus Encyclopedia: Erythropoietin Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial erythrocytosis +What is (are) rippling muscle disease ?,"Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures. The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy.",GHR,rippling muscle disease +How many people are affected by rippling muscle disease ?,The prevalence of rippling muscle disease is unknown.,GHR,rippling muscle disease +What are the genetic changes related to rippling muscle disease ?,"Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. It may also help regulate calcium levels in muscle cells, which play a role in controlling muscle contraction and relaxation. CAV3 gene mutations that cause rippling muscle disease result in a shortage of caveolin-3 protein in the muscle cell membrane. Researchers suggest that the reduction in caveolin-3 protein disrupts the normal control of calcium levels in muscle cells, leading to abnormal muscle contractions in response to stimulation. In addition to rippling muscle disease, CAV3 gene mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family. Some people with rippling muscle disease do not have mutations in the CAV3 gene. The cause of the disorder in these individuals is unknown.",GHR,rippling muscle disease +Is rippling muscle disease inherited ?,"Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with rippling muscle disease or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family. Autosomal recessive inheritance means that both copies of the CAV3 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. People with autosomal recessive rippling muscle disease generally have more severe signs and symptoms than do people with the autosomal dominant form.",GHR,rippling muscle disease +What are the treatments for rippling muscle disease ?,These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,rippling muscle disease +What is (are) hypokalemic periodic paralysis ?,"Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life. People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.",GHR,hypokalemic periodic paralysis +How many people are affected by hypokalemic periodic paralysis ?,"Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women.",GHR,hypokalemic periodic paralysis +What are the genetic changes related to hypokalemic periodic paralysis ?,"Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions. Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels cannot properly regulate the flow of ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.",GHR,hypokalemic periodic paralysis +Is hypokalemic periodic paralysis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hypokalemic periodic paralysis +What are the treatments for hypokalemic periodic paralysis ?,These resources address the diagnosis or management of hypokalemic periodic paralysis: - Gene Review: Gene Review: Hypokalemic Periodic Paralysis - Genetic Testing Registry: Hypokalemic periodic paralysis - MedlinePlus Encyclopedia: Hypokalemic periodic paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypokalemic periodic paralysis +"What is (are) neuropathy, ataxia, and retinitis pigmentosa ?","Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate. Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals.",GHR,"neuropathy, ataxia, and retinitis pigmentosa" +"How many people are affected by neuropathy, ataxia, and retinitis pigmentosa ?","The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people.",GHR,"neuropathy, ataxia, and retinitis pigmentosa" +"What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ?","NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.",GHR,"neuropathy, ataxia, and retinitis pigmentosa" +"Is neuropathy, ataxia, and retinitis pigmentosa inherited ?","This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mtDNA. The severity of some mitochondrial disorders is associated with the percentage of mitochondria in each cell that has a particular genetic change. Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. When this mutation is present in a higher percentage of a person's mitochondriagreater than 90 percent to 95 percentit causes a more severe condition known as maternally inherited Leigh syndrome. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features instead of two distinct syndromes.",GHR,"neuropathy, ataxia, and retinitis pigmentosa" +"What are the treatments for neuropathy, ataxia, and retinitis pigmentosa ?",These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome - MedlinePlus Encyclopedia: Retinitis pigmentosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,"neuropathy, ataxia, and retinitis pigmentosa" +What is (are) spastic paraplegia type 2 ?,"Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form. People with the pure form of spastic paraplegia type 2 experience spasticity in the lower limbs, usually without any additional features. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Symptoms usually become apparent between the ages of 1 and 5 years; those affected are typically able to walk and have a normal lifespan.",GHR,spastic paraplegia type 2 +How many people are affected by spastic paraplegia type 2 ?,"The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely accounts for only a small percentage of all spastic paraplegia cases.",GHR,spastic paraplegia type 2 +What are the genetic changes related to spastic paraplegia type 2 ?,"Mutations in the PLP1 gene cause spastic paraplegia 2. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the brain and spinal cord (central nervous system) and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause a reduction in the formation of myelin (dysmyelination) which can impair nervous system function, resulting in the signs and symptoms of spastic paraplegia type 2.",GHR,spastic paraplegia type 2 +Is spastic paraplegia type 2 inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.",GHR,spastic paraplegia type 2 +What are the treatments for spastic paraplegia type 2 ?,"These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 2 +What is (are) adermatoglyphia ?,"Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the ""immigration delay disease"" because affected individuals have had difficulty entering countries that require fingerprinting for identification. In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.",GHR,adermatoglyphia +How many people are affected by adermatoglyphia ?,Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide.,GHR,adermatoglyphia +What are the genetic changes related to adermatoglyphia ?,"Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protein regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. Little is known about the function of the skin-specific version of the SMARCAD1 protein, but it appears to play a critical role in dermatoglyph formation. Dermatoglyphs develop before birth and remain the same throughout life. The activity of this protein is likely one of several factors that determine each person's unique fingerprint pattern. The SMARCAD1 gene mutations that cause adermatoglyphia affect only the skin-specific version of the SMARCAD1 protein. These mutations reduce the total amount of this protein available in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs.",GHR,adermatoglyphia +Is adermatoglyphia inherited ?,"Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the altered SMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition.",GHR,adermatoglyphia +What are the treatments for adermatoglyphia ?,These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adermatoglyphia +What is (are) megalencephalic leukoencephalopathy with subcortical cysts ?,"Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size of the head (macrocephaly). Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In megalencephalic leukoencephalopathy with subcortical cysts, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can grow in size and number. The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability. There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability.",GHR,megalencephalic leukoencephalopathy with subcortical cysts +How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ?,Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature.,GHR,megalencephalic leukoencephalopathy with subcortical cysts +What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ?,"Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion). Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear. Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts. Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown.",GHR,megalencephalic leukoencephalopathy with subcortical cysts +Is megalencephalic leukoencephalopathy with subcortical cysts inherited ?,"All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GHR,megalencephalic leukoencephalopathy with subcortical cysts +What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ?,"These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1 - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2a - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,megalencephalic leukoencephalopathy with subcortical cysts +What is (are) nephronophthisis ?,"Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Lken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.",GHR,nephronophthisis +How many people are affected by nephronophthisis ?,"Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults.",GHR,nephronophthisis +What are the genetic changes related to nephronophthisis ?,"Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes involved in nephronophthisis are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells and tissues, including cells in the kidneys, liver, and brain and the light-sensitive tissue at the back of the eye (the retina). The genetic mutations involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms.",GHR,nephronophthisis +Is nephronophthisis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,nephronophthisis +What are the treatments for nephronophthisis ?,These resources address the diagnosis or management of nephronophthisis: - Genetic Testing Registry: Adolescent nephronophthisis - Genetic Testing Registry: Infantile nephronophthisis - Genetic Testing Registry: Nephronophthisis - Genetic Testing Registry: Nephronophthisis 1 - Genetic Testing Registry: Nephronophthisis 11 - Genetic Testing Registry: Nephronophthisis 12 - Genetic Testing Registry: Nephronophthisis 14 - Genetic Testing Registry: Nephronophthisis 15 - Genetic Testing Registry: Nephronophthisis 16 - Genetic Testing Registry: Nephronophthisis 18 - Genetic Testing Registry: Nephronophthisis 4 - Genetic Testing Registry: Nephronophthisis 7 - Genetic Testing Registry: Nephronophthisis 9 - Merck Manual Professional Edition These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nephronophthisis +What is (are) multiple sclerosis ?,"Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system. Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse. There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen. Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40. Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.",GHR,multiple sclerosis +How many people are affected by multiple sclerosis ?,"An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS.",GHR,multiple sclerosis +What are the genetic changes related to multiple sclerosis ?,"Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The HLA-DRB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations in several HLA genes have been associated with increased multiple sclerosis risk, but one particular variant of the HLA-DRB1 gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor. The IL7R gene provides instructions for making one piece of two different receptor proteins: the interleukin 7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. Both receptors are embedded in the cell membrane of immune cells. These receptors stimulate signaling pathways that induce the growth and division (proliferation) and survival of immune cells. The genetic variation involved in multiple sclerosis leads to production of an IL-7 receptor that is not embedded in the cell membrane but is instead found inside the cell. It is unknown if this variation affects the TSLP receptor. Because the HLA-DRB1 and IL-7R genes are involved in the immune system, changes in either might be related to the autoimmune response that damages the myelin sheath and nerve cells and leads to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role variations in either gene plays in development of the condition.",GHR,multiple sclerosis +Is multiple sclerosis inherited ?,"The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population.",GHR,multiple sclerosis +What are the treatments for multiple sclerosis ?,These resources address the diagnosis or management of multiple sclerosis: - Gene Review: Gene Review: Multiple Sclerosis Overview - Multiple Sclerosis Association of America: Treatments for MS - Multiple Sclerosis International Federation: About MS--Diagnosis - National Multiple Sclerosis Society: Diagnosing Tools These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple sclerosis +What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ?,"Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end. SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea). Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis. Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.",GHR,Stevens-Johnson syndrome/toxic epidermal necrolysis +How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ?,"SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to develop SJS/TEN than the general population. The reason for the increased risk is unclear, but immune system factors and exposure to multiple medications may play a role.",GHR,Stevens-Johnson syndrome/toxic epidermal necrolysis +What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ?,"Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. This gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain variations in this gene occur much more often in people with SJS/TEN than in people without the condition. Studies suggest that the HLA-B gene variations associated with SJS/TEN cause the immune system to react abnormally to certain medications. In a process that is not well understood, the drug causes immune cells called cytotoxic T cells and natural killer (NK) cells to release a substance called granulysin that destroys cells in the skin and mucous membranes. The death of these cells causes the blistering and peeling that is characteristic of SJS/TEN. Variations in several other HLA and non-HLA genes have also been studied as potential risk factors for SJS/TEN. However, most people with genetic variations that increase the risk of SJS/TEN never develop the disease, even if they are exposed to drugs that can trigger it. Researchers believe that additional genetic and nongenetic factors, many of which are unknown, likely play a role in whether a particular individual develops SJS/TEN. The drugs most frequently associated with SJS/TEN include several medications that are used to treat seizures (particularly carbamazepine, lamotrigine, and phenytoin); allopurinol, which is used to treat kidney stones and a form of arthritis called gout; a class of antibiotic drugs called sulfonamides; nevirapine, which is used to treat HIV infection; and a type of non-steroidal anti-inflammatory drugs (NSAIDs) called oxicams. Other factors may also trigger SJS/TEN. In particular, these skin reactions have occurred in people with an unusual form of pneumonia caused by infection with Mycoplasma pneumoniae and in people with viral infections, including cytomegalovirus. Researchers suspect that a combination of infections and drugs could contribute to the disease in some individuals. In many cases, no definitive trigger for an individual's SJS/TEN is ever discovered.",GHR,Stevens-Johnson syndrome/toxic epidermal necrolysis +Is Stevens-Johnson syndrome/toxic epidermal necrolysis inherited ?,"SJS/TEN is not an inherited condition. However, the genetic changes that increase the risk of developing SJS/TEN can be passed from one generation to the next.",GHR,Stevens-Johnson syndrome/toxic epidermal necrolysis +What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ?,These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Stevens-Johnson syndrome/toxic epidermal necrolysis +What is (are) neurofibromatosis type 2 ?,"Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition. The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.",GHR,neurofibromatosis type 2 +How many people are affected by neurofibromatosis type 2 ?,"Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.",GHR,neurofibromatosis type 2 +What are the genetic changes related to neurofibromatosis type 2 ?,"Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.",GHR,neurofibromatosis type 2 +Is neurofibromatosis type 2 inherited ?,"Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 gene must be altered to trigger tumor formation in neurofibromatosis type 2. A mutation in the second copy of the NF2 gene occurs in Schwann cells or other cells in the nervous system during a person's lifetime. Almost everyone who is born with one NF2 mutation acquires a second mutation (known as a somatic mutation) in these cells and develops the tumors characteristic of neurofibromatosis type 2.",GHR,neurofibromatosis type 2 +What are the treatments for neurofibromatosis type 2 ?,"These resources address the diagnosis or management of neurofibromatosis type 2: - Boston Children's Hospital - Gene Review: Gene Review: Neurofibromatosis 2 - Genetic Testing Registry: Neurofibromatosis, type 2 - MedlinePlus Encyclopedia: Acoustic Neuroma - MedlinePlus Encyclopedia: Neurofibromatosis 2 - Neurofibromatosis Clinic, Massachusetts General Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,neurofibromatosis type 2 +What is (are) congenital insensitivity to pain ?,"Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.",GHR,congenital insensitivity to pain +How many people are affected by congenital insensitivity to pain ?,Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature.,GHR,congenital insensitivity to pain +What are the genetic changes related to congenital insensitivity to pain ?,"Mutations in the SCN9A gene cause congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The NaV1.7 channel is also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain. The SCN9A gene mutations that cause congenital insensitivity to pain result in the production of nonfunctional alpha subunits that cannot be incorporated into NaV1.7 channels. As a result, the channels cannot be formed. The absence of NaV1.7 channels impairs the transmission of pain signals from the site of injury to the brain, causing those affected to be insensitive to pain. Loss of this channel in olfactory sensory neurons likely impairs the transmission of smell-related signals to the brain, leading to anosmia.",GHR,congenital insensitivity to pain +Is congenital insensitivity to pain inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital insensitivity to pain +What are the treatments for congenital insensitivity to pain ?,"These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital insensitivity to pain +What is (are) Coffin-Lowry syndrome ?,"Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. Affected women may be cognitively normal, or they may have intellectual disability ranging from mild to profound. Beginning in childhood or adolescence, some people with this condition experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs). Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features become more pronounced with age. Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.",GHR,Coffin-Lowry syndrome +How many people are affected by Coffin-Lowry syndrome ?,"The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.",GHR,Coffin-Lowry syndrome +What are the genetic changes related to Coffin-Lowry syndrome ?,"Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause of the condition is unknown.",GHR,Coffin-Lowry syndrome +Is Coffin-Lowry syndrome inherited ?,"This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Between 70 percent and 80 percent of people with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene. The remaining 20 percent to 30 percent of affected individuals have other family members with Coffin-Lowry syndrome.",GHR,Coffin-Lowry syndrome +What are the treatments for Coffin-Lowry syndrome ?,These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Coffin-Lowry syndrome +What is (are) hidradenitis suppurativa ?,"Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin. The signs and symptoms of hidradenitis suppurativa appear after puberty, usually in a person's teens or twenties. Nodules are most likely to form in the armpits and groin. They may also develop around the anus, on the buttocks, or under the breasts. In some cases, nodules appear in other areas, such as the nape of the neck, waist, and inner thighs. The recurrent nodules and abscesses cause chronic pain and can lead to self-consciousness, social isolation, and depression. Rarely, nodules on the buttocks can develop into a type of skin cancer called squamous cell carcinoma.",GHR,hidradenitis suppurativa +How many people are affected by hidradenitis suppurativa ?,"Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop the condition.",GHR,hidradenitis suppurativa +What are the genetic changes related to hidradenitis suppurativa ?,"In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown that the condition actually begins with a blockage of hair follicles in areas of the body that also contain a high concentration of apocrine glands (such as the armpits and groin). The blocked hair follicles trap bacteria, leading to inflammation and rupture. It remains unclear what initially causes the follicles to become blocked and why the nodules tend to recur. Genetic factors clearly play a role in causing hidradenitis suppurativa. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. The proteins produced from these genes are all components of a complex called gamma- (-) secretase. This complex cuts apart (cleaves) many different proteins, which is an important step in several chemical signaling pathways. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function. Studies suggest that mutations in the NCSTN, PSEN1, or PSENEN gene impair Notch signaling in hair follicles. Although little is known about the mechanism, abnormal Notch signaling appears to promote the development of nodules and lead to inflammation in the skin. Researchers are working to determine whether additional genes, particularly those that provide instructions for making other -secretase components, are also associated with hidradenitis suppurativa. Researchers have studied many other possible risk factors for hidradenitis suppurativa. Obesity and smoking both appear to increase the risk of the disorder, and obesity is also associated with increased severity of signs and symptoms in affected individuals. Studies suggest that neither abnormal immune system function nor hormonal factors play a significant role in causing the disease. Other factors that were mistakenly thought to be associated with this condition include poor hygiene, the use of underarm deodorants and antiperspirants, and shaving or the use of depilatory products to remove hair.",GHR,hidradenitis suppurativa +Is hidradenitis suppurativa inherited ?,"Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the condition, and hidradenitis suppurativa is sometimes misdiagnosed as other skin disorders. In some families, including those with an NCSTN, PSEN1, or PSENEN gene mutation, hidradenitis suppurativa appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the altered gene from a parent who has the condition.",GHR,hidradenitis suppurativa +What are the treatments for hidradenitis suppurativa ?,"These resources address the diagnosis or management of hidradenitis suppurativa: - American Academy of Dermatology: Hidradenitis Suppurativa: Diagnosis, Treatment, and Outcome - Genetic Testing Registry: Hidradenitis suppurativa, familial These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hidradenitis suppurativa +What is (are) carnitine-acylcarnitine translocase deficiency ?,"Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy). Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.",GHR,carnitine-acylcarnitine translocase deficiency +How many people are affected by carnitine-acylcarnitine translocase deficiency ?,CACT deficiency is very rare; at least 30 cases have been reported.,GHR,carnitine-acylcarnitine translocase deficiency +What are the genetic changes related to carnitine-acylcarnitine translocase deficiency ?,"Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Although mutations in the SLC25A20 gene change the structure of the CACT protein in different ways, they all lead to a shortage (deficiency) of the transporter. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not converted to energy. Reduced energy production can lead to some of the features of CACT deficiency, such as hypoketotic hypoglycemia. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.",GHR,carnitine-acylcarnitine translocase deficiency +Is carnitine-acylcarnitine translocase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,carnitine-acylcarnitine translocase deficiency +What are the treatments for carnitine-acylcarnitine translocase deficiency ?,These resources address the diagnosis or management of CACT deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Genetic Testing Registry: Carnitine acylcarnitine translocase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,carnitine-acylcarnitine translocase deficiency +What is (are) adenosine monophosphate deaminase deficiency ?,"Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood. Researchers have proposed three types of AMP deaminase deficiency, which are distinguished by their symptoms and genetic cause.",GHR,adenosine monophosphate deaminase deficiency +How many people are affected by adenosine monophosphate deaminase deficiency ?,"AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population.",GHR,adenosine monophosphate deaminase deficiency +What are the genetic changes related to adenosine monophosphate deaminase deficiency ?,"Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and impair the muscle cells' ability to produce energy. This lack of energy can lead to myalgia or other muscle problems associated with AMP deaminase deficiency. The three types of AMP deaminase deficiency are known as the inherited type, acquired type, and coincidental inherited type. Individuals with the inherited type have a mutation in both copies of the AMPD1 gene in each cell. Most people are asymptomatic, meaning they have no symptoms. Some people with AMP deaminase deficiency experience muscle weakness or pain following exercise. The acquired type occurs in people who have decreased levels of AMP deaminase due to the presence of a muscle or joint condition. People with the coincidental inherited type have a mutation in both copies of the AMPD1 gene. Additionally, they have a separate joint or muscle disorder. Some individuals experience more severe joint or muscle symptoms related to their disorder if they have AMP deaminase deficiency than do people without this enzyme deficiency. Most, however, do not have any symptoms associated with AMP deaminase deficiency. It is not known why most people with this condition do not experience symptoms. Researchers speculate that additional mutations in other genes may be involved.",GHR,adenosine monophosphate deaminase deficiency +Is adenosine monophosphate deaminase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,adenosine monophosphate deaminase deficiency +What are the treatments for adenosine monophosphate deaminase deficiency ?,These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adenosine monophosphate deaminase deficiency +What is (are) vitiligo ?,"Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body. Researchers have identified several forms of vitiligo. Generalized vitiligo (also called nonsegmental vitiligo), which is the most common form, involves loss of pigment (depigmentation) in patches of skin all over the body. Depigmentation typically occurs on the face, neck, and scalp, and around body openings such as the mouth and genitals. Sometimes pigment is lost in mucous membranes, such as the lips. Loss of pigmentation is also frequently seen in areas that tend to experience rubbing, impact, or other trauma, such as the hands, arms, and places where bones are close to the skin surface (bony prominences). Another form called segmental vitiligo is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area; this occurs in about 10 percent of affected individuals. Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. In people with vitiligo the immune system appears to attack the pigment cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo are also affected by at least one other autoimmune disorder, particularly autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, Addison disease, or systemic lupus erythematosus. In the absence of other autoimmune conditions, vitiligo does not affect general health or physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected individuals.",GHR,vitiligo +How many people are affected by vitiligo ?,"Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent of the population worldwide. While the condition may be more noticeable in dark-skinned people, it occurs with similar frequency in all ethnic groups.",GHR,vitiligo +What are the genetic changes related to vitiligo ?,"Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. The PTPN22 gene provides instructions for making a protein involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. The variations in the NLRP1 and PTPN22 genes that are associated with an increased risk of developing vitiligo likely affect the activity of the NLRP1 and PTPN22 proteins, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues. Studies indicate that variations in a number of other genes also affect the risk of vitiligo. Many of these genes are also involved in immune system function or melanocyte biology, and variations in each likely make only a small contribution to vitiligo risk. Some of the gene changes associated with an increased risk of vitiligo have also been associated with an increased risk of other autoimmune conditions. It is unclear what specific circumstances trigger the immune system to attack melanocytes in the skin. Research suggests that the immune system of affected individuals may react abnormally to melanocytes that are stressed by factors such as chemicals or ultraviolet radiation. In addition, the melanocytes of people with vitiligo may be more susceptible to stress than those of the general population and therefore may be more likely to be attacked by the immune system. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.",GHR,vitiligo +Is vitiligo inherited ?,"Vitiligo sometimes runs in families, but the inheritance pattern is complex since multiple causative factors are involved. About one-fifth of people with this condition have at least one close relative who is also affected.",GHR,vitiligo +What are the treatments for vitiligo ?,These resources address the diagnosis or management of vitiligo: - Genetic Testing Registry: Vitiligo - Vitiligo Support International: Vitiligo Treatments and Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,vitiligo +What is (are) Rotor syndrome ?,"Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.",GHR,Rotor syndrome +How many people are affected by Rotor syndrome ?,"Rotor syndrome is a rare condition, although its prevalence is unknown.",GHR,Rotor syndrome +What are the genetic changes related to Rotor syndrome ?,"The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.",GHR,Rotor syndrome +Is Rotor syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.",GHR,Rotor syndrome +What are the treatments for Rotor syndrome ?,These resources address the diagnosis or management of Rotor syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Gene Review: Gene Review: Rotor Syndrome - Genetic Testing Registry: Rotor syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Rotor syndrome +What is (are) cyclic neutropenia ?,"Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.",GHR,cyclic neutropenia +How many people are affected by cyclic neutropenia ?,Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide.,GHR,cyclic neutropenia +What are the genetic changes related to cyclic neutropenia ?,"Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to help fight the infection. ELANE gene mutations that cause cyclic neutropenia lead to an abnormal neutrophil elastase protein that seems to retain some of its function. However, neutrophils that produce abnormal neutrophil elastase protein appear to have a shorter lifespan than normal neutrophils. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply.",GHR,cyclic neutropenia +Is cyclic neutropenia inherited ?,"Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,cyclic neutropenia +What are the treatments for cyclic neutropenia ?,These resources address the diagnosis or management of cyclic neutropenia: - Gene Review: Gene Review: ELANE-Related Neutropenia - Genetic Testing Registry: Cyclical neutropenia - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cyclic neutropenia +What is (are) adenylosuccinate lyase deficiency ?,"Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size (microcephaly). Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems. Some affected babies develop seizures that do not improve with treatment. Because of the severity of the encephalopathy, infants with this form of the condition generally do not survive more than a few weeks after birth. Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. The signs and symptoms of this form begin in the first months of life. Affected babies have severe psychomotor delay, weak muscle tone (hypotonia), and microcephaly. Many affected infants develop recurrent seizures that are difficult to treat, and some exhibit autistic behaviors, such as repetitive behaviors and a lack of eye contact. In individuals with adenylosuccinate lyase deficiency type II (also known as the moderate or mild form), development is typically normal for the first few years of life but then slows. Psychomotor delay is considered mild or moderate. Some children with this form of the condition develop seizures and autistic behaviors.",GHR,adenylosuccinate lyase deficiency +How many people are affected by adenylosuccinate lyase deficiency ?,"Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide.",GHR,adenylosuccinate lyase deficiency +What are the genetic changes related to adenylosuccinate lyase deficiency ?,"All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. Adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP). Most of the mutations involved in adenylosuccinate lyase deficiency change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme, which impairs its function. Reduced function of this enzyme leads to buildup of SAICAR and SAMP, which are converted through a different reaction to succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). Researchers believe that SAICAr and S-Ado are toxic; damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency. Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. Individuals with more SAICAr than S-Ado have more severe encephalopathy and psychomotor delay.",GHR,adenylosuccinate lyase deficiency +Is adenylosuccinate lyase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,adenylosuccinate lyase deficiency +What are the treatments for adenylosuccinate lyase deficiency ?,These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adenylosuccinate lyase deficiency +What is (are) neuromyelitis optica ?,"Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition. Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes. Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica. There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties. Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjgren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.",GHR,neuromyelitis optica +How many people are affected by neuromyelitis optica ?,"Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men.",GHR,neuromyelitis optica +What are the genetic changes related to neuromyelitis optica ?,"No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. It is thought that the inheritance of this condition is complex and that many environmental and genetic factors are involved in the development of the condition. The aquaporin-4 protein (AQP4), a normal protein in the body, plays a role in neuromyelitis optica. The aquaporin-4 protein is found in several body systems but is most abundant in tissues of the central nervous system. Approximately 70 percent of people with this disorder produce an immune protein called an antibody that attaches (binds) to the aquaporin-4 protein. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in people with neuromyelitis optica attacks a normal human protein; this type of antibody is called an autoantibody. The autoantibody in this condition is called NMO-IgG or anti-AQP4. The binding of the NMO-IgG autoantibody to the aquaporin-4 protein turns on (activates) the complement system, which is a group of immune system proteins that work together to destroy pathogens, trigger inflammation, and remove debris from cells and tissues. Complement activation leads to the inflammation of the optic nerve and spinal cord that is characteristic of neuromyelitis optica, resulting in the signs and symptoms of the condition. The levels of the NMO-IgG autoantibody are high during episodes of neuromyelitis optica, and the levels decrease between episodes with treatment of the disorder. However, it is unclear what triggers episodes to begin or end.",GHR,neuromyelitis optica +Is neuromyelitis optica inherited ?,"Neuromyelitis optica is usually not inherited. Rarely, this condition is passed through generations in families, but the inheritance pattern is unknown.",GHR,neuromyelitis optica +What are the treatments for neuromyelitis optica ?,These resources address the diagnosis or management of neuromyelitis optica: - Genetic Testing Registry: Neuromyelitis optica - National Institute of Neurological Disorders and Stroke: Neuromyelitis Optica Information Page - The Transverse Myelitis Association: Acute Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,neuromyelitis optica +What is (are) mucopolysaccharidosis type VII ?,"Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as ""coarse,"" and a large tongue (macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition. MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VII and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VII may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. Heart disease and airway obstruction are major causes of death in people with MPS VII.",GHR,mucopolysaccharidosis type VII +How many people are affected by mucopolysaccharidosis type VII ?,"The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis.",GHR,mucopolysaccharidosis type VII +What are the genetic changes related to mucopolysaccharidosis type VII ?,"Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the GUSB gene reduce or completely eliminate the function of -glucuronidase. The shortage (deficiency) of -glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VII that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt many normal functions of cells.",GHR,mucopolysaccharidosis type VII +Is mucopolysaccharidosis type VII inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucopolysaccharidosis type VII +What are the treatments for mucopolysaccharidosis type VII ?,These resources address the diagnosis or management of mucopolysaccharidosis type VII: - Genetic Testing Registry: Mucopolysaccharidosis type VII - National MPS Society: A Guide to Understanding MPS VII These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucopolysaccharidosis type VII +What is (are) Alzheimer disease ?,"Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care. As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Death usually results from pneumonia, malnutrition, or general body wasting (inanition). Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear before age 65, while the late-onset form appears after age 65. The early-onset form is much less common than the late-onset form, accounting for less than 5 percent of all cases of Alzheimer disease.",GHR,Alzheimer disease +How many people are affected by Alzheimer disease ?,"Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades.",GHR,Alzheimer disease +What are the genetic changes related to Alzheimer disease ?,"Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. This peptide can build up in the brain to form clumps called amyloid plaques, which are characteristic of Alzheimer disease. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of nerve cells and the progressive signs and symptoms of this disorder. Some evidence indicates that people with Down syndrome have an increased risk of developing Alzheimer disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person is born with an extra copy of chromosome 21 in each cell. As a result, people with Down syndrome have three copies of many genes in each cell, including the APP gene, instead of the usual two copies. Although the connection between Down syndrome and Alzheimer disease is unclear, the production of excess amyloid beta peptide in cells may account for the increased risk. People with Down syndrome account for less than 1 percent of all cases of Alzheimer disease. The causes of late-onset Alzheimer disease are less clear. The late-onset form does not clearly run in families, although clusters of cases have been reported in some families. This disorder is probably related to variations in one or more genes in combination with lifestyle and environmental factors. A gene called APOE has been studied extensively as a risk factor for the disease. In particular, a variant of this gene called the e4 allele seems to increase an individual's risk for developing late-onset Alzheimer disease. Researchers are investigating many additional genes that may play a role in Alzheimer disease risk.",GHR,Alzheimer disease +Is Alzheimer disease inherited ?,"The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disease is uncertain. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the e4 allele, and not all people who have the e4 allele will develop the disease.",GHR,Alzheimer disease +What are the treatments for Alzheimer disease ?,"These resources address the diagnosis or management of Alzheimer disease: - Alzheimer's Disease Research Center, Washington University School of Medicine - Gene Review: Gene Review: Alzheimer Disease Overview - Gene Review: Gene Review: Early-Onset Familial Alzheimer Disease - Genetic Testing Registry: Alzheimer disease 2 - Genetic Testing Registry: Alzheimer disease, type 3 - Genetic Testing Registry: Alzheimer disease, type 4 - Genetic Testing Registry: Alzheimer's disease - MedlinePlus Encyclopedia: Alzheimer's Disease - Michigan Alzheimer's Disease Research Center - University of California Davis Alzheimer's Disease Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Alzheimer disease +What is (are) autosomal recessive axonal neuropathy with neuromyotonia ?,"Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness may be especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, and joint deformities (contractures) in the hands and feet. In some affected individuals, axonal neuropathy also causes decreased sensitivity to touch, heat, or cold, particularly in the lower arms or legs. Another feature of this condition is neuromyotonia (also known as Isaac syndrome). Neuromyotonia results from overactivation (hyperexcitability) of peripheral nerves, which leads to delayed relaxation of muscles after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia).",GHR,autosomal recessive axonal neuropathy with neuromyotonia +How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ?,"Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown.",GHR,autosomal recessive axonal neuropathy with neuromyotonia +What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ?,"Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability to carry out a chemical reaction called hydrolysis that breaks down certain molecules; however, it is not known what effects the reaction has in the body. HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. Sometimes the abnormal protein is broken down prematurely. Researchers are working to determine how loss of functional HINT1 protein affects the peripheral nerves and leads to the signs and symptoms of this condition.",GHR,autosomal recessive axonal neuropathy with neuromyotonia +Is autosomal recessive axonal neuropathy with neuromyotonia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive axonal neuropathy with neuromyotonia +What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ?,These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal recessive axonal neuropathy with neuromyotonia +What is (are) protein C deficiency ?,"Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.",GHR,protein C deficiency +How many people are affected by protein C deficiency ?,Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns.,GHR,protein C deficiency +What are the genetic changes related to protein C deficiency ?,"Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has.",GHR,protein C deficiency +Is protein C deficiency inherited ?,"Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.",GHR,protein C deficiency +What are the treatments for protein C deficiency ?,"These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protein C - MedlinePlus Encyclopedia: Purpura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,protein C deficiency +What is (are) Bannayan-Riley-Ruvalcaba syndrome ?,"Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood. At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age. About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition. Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum). The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.",GHR,Bannayan-Riley-Ruvalcaba syndrome +How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ?,"The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle.",GHR,Bannayan-Riley-Ruvalcaba syndrome +What are the genetic changes related to Bannayan-Riley-Ruvalcaba syndrome ?,"About 60 percent of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. Another 10 percent of cases are caused by a large deletion of genetic material that includes part or all of this gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. If this protein is missing or defective, cell proliferation is not regulated effectively. Uncontrolled cell division can lead to the formation of hamartomas and other cancerous and noncancerous tumors. The protein produced from the PTEN gene likely has other important functions within cells; however, it is unclear how mutations in this gene can cause the other features of Bannayan-Riley-Ruvalcaba syndrome, such as macrocephaly, developmental delay, and muscle and skeletal abnormalities. When Bannayan-Riley-Ruvalcaba syndrome is not caused by mutations or deletions of the PTEN gene, the cause of the condition is unknown.",GHR,Bannayan-Riley-Ruvalcaba syndrome +Is Bannayan-Riley-Ruvalcaba syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Bannayan-Riley-Ruvalcaba syndrome +What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ?,These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bannayan-Riley-Ruvalcaba syndrome +What is (are) MECP2-related severe neonatal encephalopathy ?,"MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure. MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.",GHR,MECP2-related severe neonatal encephalopathy +How many people are affected by MECP2-related severe neonatal encephalopathy ?,MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature.,GHR,MECP2-related severe neonatal encephalopathy +What are the genetic changes related to MECP2-related severe neonatal encephalopathy ?,"Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them on or off as they are needed. The MeCP2 protein likely plays a role in maintaining the normal function of nerve cells, which ensures that connections (synapses) between these cells form properly. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of MECP2-related severe neonatal encephalopathy.",GHR,MECP2-related severe neonatal encephalopathy +Is MECP2-related severe neonatal encephalopathy inherited ?,"MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation in one of the two copies of the gene in each cell is usually sufficient to cause the condition. However, females with a mutation in the MECP2 gene do not develop MECP2-related severe neonatal encephalopathy. Instead, they typically develop Rett syndrome, which has signs and symptoms that include intellectual disability, seizures, and movement problems. In some cases, males with MECP2-related severe neonatal encephalopathy inherit the mutation from a mother with mild neurological problems or from a mother with no features related to the mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,MECP2-related severe neonatal encephalopathy +What are the treatments for MECP2-related severe neonatal encephalopathy ?,These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly - Johns Hopkins Children's Center: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,MECP2-related severe neonatal encephalopathy +What is (are) protein S deficiency ?,"Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Other factors can raise the risk of abnormal blood clots in people with mild protein S deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein S deficiency and other inherited disorders of blood clotting can also influence risk. Many people with mild protein S deficiency never develop an abnormal blood clot, however. In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots within small blood vessels throughout the body. These blood clots disrupt normal blood flow and can lead to death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body and is often noticeable as large, purple skin lesions. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.",GHR,protein S deficiency +How many people are affected by protein S deficiency ?,"Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown.",GHR,protein S deficiency +What are the genetic changes related to protein S deficiency ?,"Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. Most mutations that cause protein S deficiency change single protein building blocks (amino acids) in protein S, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein S to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein S deficiency can be divided into types I, II and III based on how mutations in the PROS1 gene affect protein S.",GHR,protein S deficiency +Is protein S deficiency inherited ?,"Protein S deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROS1 gene in each cell is sufficient to cause mild protein S deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein S deficiency.",GHR,protein S deficiency +What are the treatments for protein S deficiency ?,These resources address the diagnosis or management of protein S deficiency: - Genetic Testing Registry: Protein S deficiency - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protein S - MedlinePlus Encyclopedia: Purpura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,protein S deficiency +What is (are) polycythemia vera ?,"Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain. Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).",GHR,polycythemia vera +How many people are affected by polycythemia vera ?,"The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women.",GHR,polycythemia vera +What are the genetic changes related to polycythemia vera ?,"Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. JAK2 gene mutations seem to be particularly important for the development of polycythemia vera, as nearly all affected individuals have a mutation in this gene. The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. JAK2 gene mutations result in the production of a JAK2 protein that is constantly turned on (constitutively activated), which increases production of blood cells and prolongs their survival. With so many extra cells in the bloodstream, abnormal blood clots are more likely to form. Thicker blood also flows more slowly throughout the body, which prevents organs from receiving enough oxygen. Many of the signs and symptoms of polycythemia vera are related to a shortage of oxygen in body tissues. The function of the TET2 gene is unknown. Although mutations in the TET2 gene have been found in approximately 16 percent of people with polycythemia vera, it is unclear what role these mutations play in the development of the condition.",GHR,polycythemia vera +Is polycythemia vera inherited ?,"Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing polycythemia vera, although the cause of this condition in familial cases is unknown. In these families, people seem to inherit an increased risk of polycythemia vera, not the disease itself.",GHR,polycythemia vera +What are the treatments for polycythemia vera ?,These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,polycythemia vera +What is (are) pontocerebellar hypoplasia ?,"Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term ""pontocerebellar"" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term ""hypoplasia"" refers to the underdevelopment of these brain regions. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood. Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.",GHR,pontocerebellar hypoplasia +How many people are affected by pontocerebellar hypoplasia ?,"The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare.",GHR,pontocerebellar hypoplasia +What are the genetic changes related to pontocerebellar hypoplasia ?,"Pontocerebellar hypoplasia can result from mutations in several genes. About half of all cases of PCH1 are caused by mutations in the EXOSC3 gene. PCH1 can also result from mutations in several other genes, including TSEN54, RARS2, and VRK1. PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. In addition to causing PCH1 and PCH2, mutations in the TSEN54 gene can cause PCH4 and PCH5. Mutations in the RARS2 gene, in addition to causing PCH1, can result in PCH6. The remaining types of pontocerebellar hypoplasia are caused by mutations in other genes. In some cases, the genetic cause of pontocerebellar hypoplasia is unknown. The genes associated with pontocerebellar hypoplasia appear to play essential roles in the development and survival of nerve cells (neurons). Many of these genes are known or suspected to be involved in processing RNA molecules, which are chemical cousins of DNA. Fully processed, mature RNA molecules are essential for the normal functioning of all cells, including neurons. Studies suggest that abnormal RNA processing likely underlies the abnormal brain development characteristic of pontocerebellar hypoplasia, although the exact mechanism is unknown. Researchers hypothesize that developing neurons in certain areas of the brain may be particularly sensitive to problems with RNA processing. Some of the genes associated with pontocerebellar hypoplasia have functions unrelated to RNA processing. In most cases, it is unclear how mutations in these genes impair brain development.",GHR,pontocerebellar hypoplasia +Is pontocerebellar hypoplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pontocerebellar hypoplasia +What are the treatments for pontocerebellar hypoplasia ?,These resources address the diagnosis or management of pontocerebellar hypoplasia: - Gene Review: Gene Review: EXOSC3-Related Pontocerebellar Hypoplasia - Gene Review: Gene Review: TSEN54-Related Pontocerebellar Hypoplasia - Genetic Testing Registry: Pontoneocerebellar hypoplasia - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pontocerebellar hypoplasia +What is (are) adenosine deaminase deficiency ?,"Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by ""opportunistic"" organisms that ordinarily do not cause illness in people with a normal immune system. The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and widespread skin rashes. Affected children also grow much more slowly than healthy children and some have developmental delay. Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life. Without treatment, these babies usually do not survive past age 2. In about 10 percent to 15 percent of cases, onset of immune deficiency is delayed to between 6 and 24 months of age (delayed onset) or even until adulthood (late onset). Immune deficiency in these later-onset cases tends to be less severe, causing primarily recurrent upper respiratory and ear infections. Over time, affected individuals may develop chronic lung damage, malnutrition, and other health problems.",GHR,adenosine deaminase deficiency +How many people are affected by adenosine deaminase deficiency ?,"Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases.",GHR,adenosine deaminase deficiency +What are the genetic changes related to adenosine deaminase deficiency ?,"Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders, such as bacteria and viruses, by making immune proteins called antibodies or by directly attacking infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system. The function of the adenosine deaminase enzyme is to eliminate a molecule called deoxyadenosine, which is generated when DNA is broken down. Adenosine deaminase converts deoxyadenosine, which can be toxic to lymphocytes, to another molecule called deoxyinosine that is not harmful. Mutations in the ADA gene reduce or eliminate the activity of adenosine deaminase and allow the buildup of deoxyadenosine to levels that are toxic to lymphocytes. Immature lymphocytes in the thymus are particularly vulnerable to a toxic buildup of deoxyadenosine. These cells die before they can mature to help fight infection. The number of lymphocytes in other lymphoid tissues is also greatly reduced. The loss of infection-fighting cells results in the signs and symptoms of SCID.",GHR,adenosine deaminase deficiency +Is adenosine deaminase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,adenosine deaminase deficiency +What are the treatments for adenosine deaminase deficiency ?,These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase Deficiency - Genetic Testing Registry: Severe combined immunodeficiency due to ADA deficiency - National Marrow Donor Program: SCID and Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adenosine deaminase deficiency +What is (are) familial isolated pituitary adenoma ?,"Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions. Tumors that form in the pituitary gland can release excess levels of one or more hormones, although some tumors do not produce hormones (nonfunctioning pituitary adenomas). Those that do are typically distinguished by the particular hormones they produce. Prolactinomas are the most common tumors in FIPA. These tumors release prolactin, a hormone that stimulates breast milk production in females. Both women and men can develop prolactinomas, although they are more common in women. In women, these tumors may lead to changes in the menstrual cycle or difficulty becoming pregnant. Some affected women may produce breast milk, even though they are not pregnant or nursing. In men, prolactinomas may cause erectile dysfunction or decreased interest in sex. Rarely, affected men produce breast milk. Large prolactinomas can press on nearby tissues such as the nerves that carry information from the eyes to the brain (the optic nerves), causing problems with vision. Another type of tumor called somatotropinoma is also common in FIPA. These tumors release growth hormone (also called somatotropin), which promotes growth of the body. Somatotropinomas in children or adolescents can lead to increased height (gigantism), because the long bones of their arms and legs are still growing. In adults, growth of the long bones has stopped, but the tumors can cause overgrowth of the hands, feet, and face (acromegaly) as well as other tissues. Less common tumor types in FIPA include somatolactotropinomas, nonfunctioning pituitary adenomas, adrenocorticotropic hormone-secreting tumors (which cause a condition known as Cushing disease), thyrotropinomas, and gonadotropinomas. In a family with the condition, affected members can develop the same type of tumor (homogenous FIPA) or different types (heterogenous FIPA). In FIPA, pituitary tumors usually occur at a younger age than sporadic pituitary adenomas, which are not inherited. In general, FIPA tumors are also larger than sporadic pituitary tumors. Often, people with FIPA have macroadenomas, which are tumors larger than 10 millimeters. Familial pituitary adenomas can occur as one of many features in other inherited conditions such as multiple endocrine neoplasia type 1 and Carney complex; however, in FIPA, the pituitary adenomas are described as isolated because only the pituitary gland is affected.",GHR,familial isolated pituitary adenoma +How many people are affected by familial isolated pituitary adenoma ?,"Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature.",GHR,familial isolated pituitary adenoma +What are the genetic changes related to familial isolated pituitary adenoma ?,"FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the production of functional protein. These changes likely impair the ability of the AIP protein to control the growth and division of cells, allowing pituitary cells to grow and divide unchecked and form a tumor. It is not known why the pituitary gland is specifically affected or why certain types of pituitary adenomas develop. AIP gene mutations account for approximately 15 to 25 percent of cases of FIPA. Somatotropinomas are the most common type of tumor in these individuals. The tumors usually occur at a younger age, often in childhood, and are larger than FIPA tumors not caused by AIP gene mutations. The other genetic causes of FIPA are unknown.",GHR,familial isolated pituitary adenoma +Is familial isolated pituitary adenoma inherited ?,"FIPA is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 20 to 30 percent of individuals with an AIP gene mutation develop a pituitary adenoma. This phenomenon, in which some individuals with a mutation do not develop the features of a particular disorder, is called incomplete penetrance.",GHR,familial isolated pituitary adenoma +What are the treatments for familial isolated pituitary adenoma ?,These resources address the diagnosis or management of familial isolated pituitary adenoma: - American Cancer Society: How are Pituitary Tumors Diagnosed? - Gene Review: Gene Review: AIP-Related Familial Isolated Pituitary Adenomas - Genetic Testing Registry: AIP-Related Familial Isolated Pituitary Adenomas - MedlinePlus Encyclopedia: Prolactinoma - MedlinePlus Health Topic: Pituitary Tumors These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial isolated pituitary adenoma +What is (are) CAV3-related distal myopathy ?,"CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.",GHR,CAV3-related distal myopathy +How many people are affected by CAV3-related distal myopathy ?,The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature.,GHR,CAV3-related distal myopathy +What are the genetic changes related to CAV3-related distal myopathy ?,"CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. CAV3 gene mutations result in a shortage of caveolin-3 protein in the muscle cell membrane and a reduction in the number of caveolae. Researchers suggest that a shortage of caveolae impairs the structural integrity of muscle cells, interferes with cell signaling, and causes the self-destruction of cells (apoptosis). The resulting degeneration of muscle tissue leads to the signs and symptoms of CAV3-related distal myopathy. In addition to CAV3-related distal myopathy, CAV3 gene mutations can cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.",GHR,CAV3-related distal myopathy +Is CAV3-related distal myopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family.",GHR,CAV3-related distal myopathy +What are the treatments for CAV3-related distal myopathy ?,"These resources address the diagnosis or management of CAV3-related distal myopathy: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: CAV3-Related Distal Myopathy - Genetic Testing Registry: Distal myopathy, Tateyama type - MedlinePlus Encyclopedia: Electromyography - MedlinePlus Encyclopedia: Muscle Biopsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,CAV3-related distal myopathy +"What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?","The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes. The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems.",GHR,"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" +"How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?",The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature.,GHR,"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" +"What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?","The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. Studies suggest that the resulting shortage of this enzyme impairs the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of the condition.",GHR,"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" +"Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ?","This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.",GHR,"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" +"What are the treatments for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?","These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" +What is (are) systemic scleroderma ?,"Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word ""scleroderma"" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face. In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis), or small clusters of enlarged blood vessels just under the skin (telangiectasia). Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction). There are three types of systemic scleroderma, defined by the tissues affected in the disorder. In one type of systemic scleroderma, known as limited cutaneous systemic scleroderma, fibrosis usually affects only the hands, arms, and face. Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. In another type of systemic scleroderma, known as diffuse cutaneous systemic scleroderma, the fibrosis affects large areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In diffuse cutaneous systemic scleroderma, the condition worsens quickly and organ damage occurs earlier than in other types of the condition. In the third type of systemic scleroderma, called systemic sclerosis sine scleroderma (""sine"" means without in Latin), fibrosis affects one or more internal organs but not the skin. Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjgren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome.",GHR,systemic scleroderma +How many people are affected by systemic scleroderma ?,"The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more likely to develop the condition than men.",GHR,systemic scleroderma +What are the genetic changes related to systemic scleroderma ?,"Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific normal variations of several HLA genes seem to affect the risk of developing systemic scleroderma. Normal variations in other genes related to the body's immune function, such as IRF5 and STAT4, are also associated with an increased risk of developing systemic scleroderma. Variations in the IRF5 gene are specifically associated with diffuse cutaneous systemic scleroderma, and a variation in the STAT4 gene is associated with limited cutaneous systemic scleroderma. The IRF5 and STAT4 genes both play a role in initiating an immune response when the body detects a foreign invader (pathogen) such as a virus. It is not known how variations in the associated genes contribute to the increased risk of systemic scleroderma. Variations in multiple genes may work together to increase the risk of developing the condition, and researchers are working to identify and confirm other genes associated with increased risk. In addition, a combination of genetic and environmental factors seems to play a role in developing systemic scleroderma.",GHR,systemic scleroderma +Is systemic scleroderma inherited ?,"Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders. A small percentage of all cases of systemic scleroderma have been reported to run in families; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. As a result, inheriting a genetic variation linked with systemic scleroderma does not mean that a person will develop the condition.",GHR,systemic scleroderma +What are the treatments for systemic scleroderma ?,"These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,systemic scleroderma +What is (are) Bowen-Conradi syndrome ?,"Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement. Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism). Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.",GHR,Bowen-Conradi syndrome +How many people are affected by Bowen-Conradi syndrome ?,Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the medical literature. Researchers differ as to whether these individuals have Bowen-Conradi syndrome or a similar but distinct disorder.,GHR,Bowen-Conradi syndrome +What are the genetic changes related to Bowen-Conradi syndrome ?,"Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus. The particular EMG1 gene mutation known to cause Bowen-Conradi syndrome is thought to make the protein unstable, resulting in a decrease in the amount of EMG1 protein that is available in the nucleolus. A shortage of this protein in the nucleolus would impair ribosome production, which may reduce cell growth and division (proliferation); however, it is unknown how EMG1 gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.",GHR,Bowen-Conradi syndrome +Is Bowen-Conradi syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bowen-Conradi syndrome +What are the treatments for Bowen-Conradi syndrome ?,These resources address the diagnosis or management of Bowen-Conradi syndrome: - Genetic Testing Registry: Bowen-Conradi syndrome - MedlinePlus Encyclopedia: Feeding Tube--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bowen-Conradi syndrome +What is (are) lactose intolerance ?,"Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea. If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss. Lactose intolerance in adulthood is caused by reduced production of lactase after infancy (lactase nonpersistence). If individuals with lactose intolerance consume lactose-containing dairy products, they may experience abdominal pain, bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours later. Most people with lactase nonpersistence retain some lactase activity and can include varying amounts of lactose in their diets without experiencing symptoms. Often, affected individuals have difficulty digesting fresh milk but can eat certain dairy products such as cheese or yogurt without discomfort. These foods are made using fermentation processes that break down much of the lactose in milk.",GHR,lactose intolerance +How many people are affected by lactose intolerance ?,"Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy. Lactose intolerance in adulthood is most prevalent in people of East Asian descent, affecting more than 90 percent of adults in some of these communities. Lactose intolerance is also very common in people of West African, Arab, Jewish, Greek, and Italian descent. The prevalence of lactose intolerance is lowest in populations with a long history of dependence on unfermented milk products as an important food source. For example, only about 5 percent of people of Northern European descent are lactose intolerant.",GHR,lactose intolerance +What are the genetic changes related to lactose intolerance ?,"Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely impaired ability to digest lactose in breast milk or formula. Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans. LCT gene expression is controlled by a DNA sequence called a regulatory element, which is located within a nearby gene called MCM6. Some individuals have inherited changes in this element that lead to sustained lactase production in the small intestine and the ability to digest lactose throughout life. People without these changes have a reduced ability to digest lactose as they get older, resulting in the signs and symptoms of lactose intolerance.",GHR,lactose intolerance +Is lactose intolerance inherited ?,"The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The ability to digest lactose into adulthood depends on which variations in the regulatory element within the MCM6 gene individuals have inherited from their parents. The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient to sustain lactase production. People who have not inherited these variations from either parent will have some degree of lactose intolerance.",GHR,lactose intolerance +What are the treatments for lactose intolerance ?,These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lactose intolerance +What is (are) Nakajo-Nishimura syndrome ?,"Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). Later in childhood, affected individuals develop joint pain and joint deformities called contractures that limit movement, particularly in the hands, wrists, and elbows. They also experience weakness and wasting of muscles, along with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The combination of muscle and fat loss worsens over time, leading to an extremely thin (emaciated) appearance in the face, chest, and arms. Other signs and symptoms of Nakajo-Nishimura syndrome can include an enlarged liver and spleen (hepatosplenomegaly), a shortage of red blood cells (anemia), a reduced amount of blood clotting cells called platelets (thrombocytopenia), and abnormal deposits of calcium (calcification) in an area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals. The signs and symptoms of Nakajo-Nishimura syndrome overlap with those of two other conditions: one called joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and the other called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. Although they are often considered separate disorders, they are caused by mutations in the same gene, and some researchers believe they may represent different forms of a single condition.",GHR,Nakajo-Nishimura syndrome +How many people are affected by Nakajo-Nishimura syndrome ?,Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature.,GHR,Nakajo-Nishimura syndrome +What are the genetic changes related to Nakajo-Nishimura syndrome ?,"Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. One of the primary functions of immunoproteasomes is to help the immune system distinguish the body's own proteins from proteins made by foreign invaders, so the immune system can respond appropriately to infection. Mutations in the PSMB8 gene greatly reduce the amount of protein produced from the PSMB8 gene, which impairs the normal assembly of immunoproteasomes and causes the immune system to malfunction. For unknown reasons, the malfunctioning immune system triggers abnormal inflammation that can damage the body's own tissues and organs; as a result, Nakajo-Nishimura syndrome is classified as an autoinflammatory disorder. Abnormal inflammation likely underlies many of the signs and symptoms of Nakajo-Nishimura syndrome, including the nodular erythema, recurrent fevers, joint problems, and hepatosplenomegaly. It is less clear how mutations in the PSMB8 gene lead to muscle wasting and lipodystrophy. Studies suggest that the protein produced from the PSMB8 gene may play a separate role in the maturation of fat cells (adipocytes), and a shortage of this protein may interfere with the normal development and function of these cells.",GHR,Nakajo-Nishimura syndrome +Is Nakajo-Nishimura syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Nakajo-Nishimura syndrome +What are the treatments for Nakajo-Nishimura syndrome ?,These resources address the diagnosis or management of Nakajo-Nishimura syndrome: - Genetic Testing Registry: Nakajo syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Nakajo-Nishimura syndrome +What is (are) congenital plasminogen deficiency ?,"Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed. Congenital plasminogen deficiency most often affects the conjunctiva, which are the mucous membranes that protect the white part of the eye (the sclera) and line the eyelids. A characteristic feature of this disorder is ligneous conjunctivitis, in which a buildup of a protein called fibrin causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids. However, in about one-third of cases, ligneous conjunctivitis over the sclera grows onto the cornea, which is the clear covering that protects the colored part of the eye (the iris) and pupil. Such growths can tear the cornea or cause scarring. These corneal problems as well as obstruction by growths inside the eyelid can lead to vision loss. People with congenital plasminogen deficiency may also develop ligneous growths on other mucous membranes, including the inside of the mouth and the gums; the lining of the nasal cavity; and in females, the vagina. Growths on the mucous membranes that line the gastrointestinal tract may result in ulcers. The growths may also develop in the windpipe, which can cause life-threatening airway obstruction, especially in children. In a small number of cases, affected individuals are born with impaired drainage of the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF), resulting in a buildup of this fluid in the skull (occlusive hydrocephalus). It is unclear how this feature is related to the other signs and symptoms of congenital plasminogen deficiency.",GHR,congenital plasminogen deficiency +How many people are affected by congenital plasminogen deficiency ?,"The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed, because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. Mild cases likely never come to medical attention.",GHR,congenital plasminogen deficiency +What are the genetic changes related to congenital plasminogen deficiency ?,"Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in blood clots and is important for wound healing, creating the framework for normal tissue to grow back. Excess fibrin is broken down when no longer needed, and the new, more flexible normal tissue takes its place. PLG gene mutations can decrease the amount of plasminogen that is produced, its function, or both. When the mutations affect plasminogen levels as well as the activity of the protein, affected individuals may be said to have type I congenital plasminogen deficiency, characterized by the ligneous growths previously described. People with mutations that result in normal levels of plasminogen with reduced activity are said to have type II congenital plasminogen deficiency or dysplasminogenemia. This form of the condition often has no symptoms. A reduction in functional plasminogen results in less plasmin to break down fibrin, leading to a buildup of fibrin. The excess fibrin and the resulting inflammation of the tissue result in the inflamed woody growths characteristic of congenital plasminogen deficiency. It is unclear why the excess fibrin builds up in the mucous membranes but does not usually result in abnormal clots in the blood vessels (thromboses). Researchers suggest that other enzymes in the blood may also break down fibrin, helping to compensate for the reduced plasminogen levels.",GHR,congenital plasminogen deficiency +Is congenital plasminogen deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital plasminogen deficiency +What are the treatments for congenital plasminogen deficiency ?,"These resources address the diagnosis or management of congenital plasminogen deficiency: - Genetic Testing Registry: Plasminogen deficiency, type I - Indiana Hemophilia and Thrombosis Center - Plasminogen Deficiency Registry These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital plasminogen deficiency +What is (are) autosomal dominant nocturnal frontal lobe epilepsy ?,"Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks. In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers. The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication. Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.",GHR,autosomal dominant nocturnal frontal lobe epilepsy +How many people are affected by autosomal dominant nocturnal frontal lobe epilepsy ?,ADNFLE appears to be an uncommon form of epilepsy; its prevalence is unknown. This condition has been reported in more than 100 families worldwide.,GHR,autosomal dominant nocturnal frontal lobe epilepsy +What are the genetic changes related to autosomal dominant nocturnal frontal lobe epilepsy ?,"Mutations in the CHRNA2, CHRNA4, and CHRNB2 genes can cause ADNFLE. These genes provide instructions for making different parts (subunits) of a larger molecule called a neuronal nicotinic acetylcholine receptor (nAChR). This receptor plays an important role in chemical signaling between nerve cells (neurons) in the brain. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Researchers believe that mutations in the CHRNA2, CHRNA4, and CHRNB2 genes affect the normal release and uptake of certain neurotransmitters in the brain. The resulting changes in signaling between neurons likely trigger the abnormal brain activity associated with seizures. The seizures associated with ADNFLE begin in areas of the brain called the frontal lobes. These regions of the brain are involved in many critical functions, including reasoning, planning, judgment, and problem-solving. It is unclear why mutations in the CHRNA2, CHRNA4, and CHRNB2 genes cause seizures in the frontal lobes rather than elsewhere in the brain. Researchers are also working to determine why these seizures occur most often during sleep. The genetic cause of ADNFLE has been identified in only a small percentage of affected families. In some cases, a gene other than those that make up the nAChR are involved. In the remaining families, the cause of the condition is unknown. Researchers are searching for other genetic changes, including mutations in other subunits of nAChR, that may underlie the condition.",GHR,autosomal dominant nocturnal frontal lobe epilepsy +Is autosomal dominant nocturnal frontal lobe epilepsy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About 70 percent of people who inherit a mutation in the CHRNA2, CHRNA4, or CHRNB2 gene will develop seizures. In most cases, an affected person has one affected parent and other relatives with the condition. Other cases are described as sporadic, which means an affected person has no family history of the disorder.",GHR,autosomal dominant nocturnal frontal lobe epilepsy +What are the treatments for autosomal dominant nocturnal frontal lobe epilepsy ?,"These resources address the diagnosis or management of ADNFLE: - Gene Review: Gene Review: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 1 - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 2 - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 3 - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 4 - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autosomal dominant nocturnal frontal lobe epilepsy +What is (are) multiple familial trichoepithelioma ?,"Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma. Individuals with multiple familial trichoepithelioma occasionally also develop other types of tumors, including growths called spiradenomas and cylindromas. Spiradenomas develop in sweat glands. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with multiple familial trichoepithelioma typically begin developing tumors during childhood or adolescence. The tumors mostly appear on the face, especially in the folds in the skin between the nose and lips (nasolabial folds, sometimes called smile lines), but may also occur on the neck, scalp, or trunk. They may grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with multiple familial trichoepithelioma are often more severely affected than males.",GHR,multiple familial trichoepithelioma +How many people are affected by multiple familial trichoepithelioma ?,Multiple familial trichoepithelioma is a rare disorder; its prevalence is unknown.,GHR,multiple familial trichoepithelioma +What are the genetic changes related to multiple familial trichoepithelioma ?,"Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with CYLD-related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with multiple familial trichoepithelioma, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors. Some researchers consider multiple familial trichoepithelioma and two related conditions called familial cylindromatosis and Brooke-Spiegler syndrome, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders. Some people with multiple familial trichoepithelioma do not have mutations in the CYLD gene. Scientists are working to identify the genetic cause of the disorder in these individuals.",GHR,multiple familial trichoepithelioma +Is multiple familial trichoepithelioma inherited ?,"Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.",GHR,multiple familial trichoepithelioma +What are the treatments for multiple familial trichoepithelioma ?,These resources address the diagnosis or management of multiple familial trichoepithelioma: - Genetic Testing Registry: Familial multiple trichoepitheliomata - Genetic Testing Registry: Trichoepithelioma multiple familial 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple familial trichoepithelioma +"What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ?","Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).",GHR,"congenital deafness with labyrinthine aplasia, microtia, and microdontia" +"How many people are affected by congenital deafness with labyrinthine aplasia, microtia, and microdontia ?","LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified.",GHR,"congenital deafness with labyrinthine aplasia, microtia, and microdontia" +"What are the genetic changes related to congenital deafness with labyrinthine aplasia, microtia, and microdontia ?","LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as dividing or maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth. FGF3 gene mutations involved in LAMM syndrome alter the FGF3 protein. The altered protein likely has reduced or absent function and is unable to stimulate signaling. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.",GHR,"congenital deafness with labyrinthine aplasia, microtia, and microdontia" +"Is congenital deafness with labyrinthine aplasia, microtia, and microdontia inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"congenital deafness with labyrinthine aplasia, microtia, and microdontia" +"What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ?","These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"congenital deafness with labyrinthine aplasia, microtia, and microdontia" +What is (are) FOXG1 syndrome ?,"FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter. FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. Because of these social impairments, FOXG1 syndrome is classified as an autism spectrum disorder. FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.",GHR,FOXG1 syndrome +How many people are affected by FOXG1 syndrome ?,FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature.,GHR,FOXG1 syndrome +What are the genetic changes related to FOXG1 syndrome ?,"As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telencephalon ultimately develops into several critical structures, including the the largest part of the brain (the cerebrum), which controls most voluntary activity, language, sensory perception, learning, and memory. In some cases, FOXG1 syndrome is caused by mutations within the FOXG1 gene itself. In others, the condition results from a deletion of genetic material from a region of the long (q) arm of chromosome 14 that includes the FOXG1 gene. All of these genetic changes prevent the production of forkhead box G1 or impair the protein's function. A shortage of functional forkhead box G1 disrupts normal brain development starting before birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome.",GHR,FOXG1 syndrome +Is FOXG1 syndrome inherited ?,"FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. Because the condition is so severe, no one with FOXG1 syndrome has been known to have children.",GHR,FOXG1 syndrome +What are the treatments for FOXG1 syndrome ?,"These resources address the diagnosis or management of FOXG1 syndrome: - Genetic Testing Registry: Rett syndrome, congenital variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,FOXG1 syndrome +What is (are) pilomatricoma ?,"Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur). Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life. Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.",GHR,pilomatricoma +How many people are affected by pilomatricoma ?,"Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors.",GHR,pilomatricoma +What are the genetic changes related to pilomatricoma ?,"Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein plays an important role in sticking cells together (cell adhesion) and in communication between cells. It is also involved in cell signaling as part of the WNT signaling pathway. This pathway promotes the growth and division (proliferation) of cells and helps determine the specialized functions a cell will have (differentiation). WNT signaling is involved in many aspects of development before birth, as well as the maintenance and repair of adult tissues. Among its many activities, beta-catenin appears to be necessary for the normal function of hair follicles. This protein is active in cells that make up a part of the hair follicle known as the matrix. These cells divide and mature to form the different components of the hair follicle and the hair shaft. As matrix cells divide, the hair shaft is pushed upward and extends beyond the skin. Mutations in the CTNNB1 gene lead to a version of beta-catenin that is always turned on (constitutively active). The overactive protein triggers matrix cells to divide too quickly and in an uncontrolled way, leading to the formation of a pilomatricoma. Most pilomatrix carcinomas, the malignant version of pilomatricoma, also have somatic mutations in the CTNNB1 gene. It is unclear why some pilomatricomas are cancerous but most others are not.",GHR,pilomatricoma +Is pilomatricoma inherited ?,"Most people with isolated pilomatricoma do not have any other affected family members. However, rare families with multiple affected members have been reported. In these cases, the inheritance pattern of the condition (if any) is unknown.",GHR,pilomatricoma +What are the treatments for pilomatricoma ?,These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pilomatricoma +What is (are) spastic paraplegia type 4 ?,"Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and the nervous system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.",GHR,spastic paraplegia type 4 +How many people are affected by spastic paraplegia type 4 ?,"The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide.",GHR,spastic paraplegia type 4 +What are the genetic changes related to spastic paraplegia type 4 ?,"Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell components, especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4.",GHR,spastic paraplegia type 4 +Is spastic paraplegia type 4 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. The remaining cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,spastic paraplegia type 4 +What are the treatments for spastic paraplegia type 4 ?,"These resources address the diagnosis or management of spastic paraplegia type 4: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 4 - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 4 +What is (are) hepatic veno-occlusive disease with immunodeficiency ?,"Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure. Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident. Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.",GHR,hepatic veno-occlusive disease with immunodeficiency +How many people are affected by hepatic veno-occlusive disease with immunodeficiency ?,"VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy.",GHR,hepatic veno-occlusive disease with immunodeficiency +What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ?,"VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria). Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.",GHR,hepatic veno-occlusive disease with immunodeficiency +Is hepatic veno-occlusive disease with immunodeficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hepatic veno-occlusive disease with immunodeficiency +What are the treatments for hepatic veno-occlusive disease with immunodeficiency ?,These resources address the diagnosis or management of VODI: - Gene Review: Gene Review: Hepatic Veno-Occlusive Disease with Immunodeficiency - Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hepatic veno-occlusive disease with immunodeficiency +What is (are) idiopathic pulmonary fibrosis ?,"Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer. In most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.",GHR,idiopathic pulmonary fibrosis +How many people are affected by idiopathic pulmonary fibrosis ?,"Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per 100,000 people worldwide. About 100,000 people are affected in the United States, and 30,000 to 40,000 new cases are diagnosed each year. Familial pulmonary fibrosis is less common than the sporadic form of the disease. Only a small percentage of cases of idiopathic pulmonary fibrosis appear to run in families.",GHR,idiopathic pulmonary fibrosis +What are the genetic changes related to idiopathic pulmonary fibrosis ?,"The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease. Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis. Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.",GHR,idiopathic pulmonary fibrosis +Is idiopathic pulmonary fibrosis inherited ?,"Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family. Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of familial pulmonary fibrosis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with the mutated gene do not.",GHR,idiopathic pulmonary fibrosis +What are the treatments for idiopathic pulmonary fibrosis ?,"These resources address the diagnosis or management of idiopathic pulmonary fibrosis: - Gene Review: Gene Review: Pulmonary Fibrosis, Familial - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,idiopathic pulmonary fibrosis +What is (are) thanatophoric dysplasia ?,"Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull. The term thanatophoric is Greek for ""death bearing."" Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.",GHR,thanatophoric dysplasia +How many people are affected by thanatophoric dysplasia ?,"This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.",GHR,thanatophoric dysplasia +What are the genetic changes related to thanatophoric dysplasia ?,"Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.",GHR,thanatophoric dysplasia +Is thanatophoric dysplasia inherited ?,"Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.",GHR,thanatophoric dysplasia +What are the treatments for thanatophoric dysplasia ?,"These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,thanatophoric dysplasia +What is (are) aminoacylase 1 deficiency ?,"Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 deficiency have no health problems related to the condition. A key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called N-acetylated amino acids, in the urine.",GHR,aminoacylase 1 deficiency +How many people are affected by aminoacylase 1 deficiency ?,The prevalence of aminoacylase 1 deficiency is unknown.,GHR,aminoacylase 1 deficiency +What are the genetic changes related to aminoacylase 1 deficiency ?,"Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of proteins when they are no longer needed. Many proteins in the body have an acetyl group attached to one end. This modification, called N-acetylation, helps protect and stabilize the protein. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from certain amino acids. The amino acids can then be recycled and used to build other proteins. Mutations in the ACY1 gene lead to an aminoacylase 1 enzyme with little or no function. Without this enzyme's function, acetyl groups are not efficiently removed from a subset of amino acids during the breakdown of proteins. The excess N-acetylated amino acids are released from the body in urine. It is not known how a reduction of aminoacylase 1 function leads to neurological problems in people with aminoacylase 1 deficiency.",GHR,aminoacylase 1 deficiency +Is aminoacylase 1 deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,aminoacylase 1 deficiency +What are the treatments for aminoacylase 1 deficiency ?,These resources address the diagnosis or management of aminoacylase 1 deficiency: - Genetic Testing Registry: Aminoacylase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aminoacylase 1 deficiency +What is (are) multiple endocrine neoplasia ?,"Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.",GHR,multiple endocrine neoplasia +How many people are affected by multiple endocrine neoplasia ?,"Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, although the condition appears to be rare.",GHR,multiple endocrine neoplasia +What are the genetic changes related to multiple endocrine neoplasia ?,"Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia. Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues. Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues. Mutations in the CDKN1B gene cause multiple endocrine neoplasia type 4. This gene provides instructions for making a protein called p27. Like the menin protein, p27 is a tumor suppressor that helps control the growth and division of cells. Mutations in the CDKN1B gene reduce the amount of functional p27, which allows cells to grow and divide unchecked. This unregulated cell division can lead to the development of tumors in endocrine glands and other tissues.",GHR,multiple endocrine neoplasia +Is multiple endocrine neoplasia inherited ?,"Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mutations in the MEN1 gene, and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. A mutation in the second copy of the MEN1 gene occurs in a small number of cells during a person's lifetime. Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors. Multiple endocrine neoplasia type 2 and type 4 are also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. Affected individuals often inherit an altered RET or CDKN1B gene from one parent with the condition. Some cases, however, result from new mutations in the gene and occur in people without other affected family members.",GHR,multiple endocrine neoplasia +What are the treatments for multiple endocrine neoplasia ?,"These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medullary thyroid carcinoma - Genetic Testing Registry: Multiple endocrine neoplasia, type 1 - Genetic Testing Registry: Multiple endocrine neoplasia, type 2a - Genetic Testing Registry: Multiple endocrine neoplasia, type 2b - Genetic Testing Registry: Multiple endocrine neoplasia, type 4 - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 1 - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 2A - MedlinePlus Encyclopedia: Hyperparathyroidism - MedlinePlus Encyclopedia: Medullary Carcinoma of Thyroid - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) I - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) II - MedlinePlus Encyclopedia: Pancreatic Islet Cell Tumor - MedlinePlus Encyclopedia: Pheochromocytoma - MedlinePlus Encyclopedia: Pituitary Tumor - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes - New York Thyroid Center: Medullary Thyroid Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,multiple endocrine neoplasia +What is (are) KBG syndrome ?,"KBG syndrome is a rare disorder that affects several body systems. ""KBG"" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (philtrum), and a thin upper lip. A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively). Most affected individuals are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this condition have behavioral or emotional problems, such as hyperactivity or anxiety. Less common features of KBG syndrome include hearing loss, seizures, and heart defects.",GHR,KBG syndrome +How many people are affected by KBG syndrome ?,"KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders.",GHR,KBG syndrome +What are the genetic changes related to KBG syndrome ?,"KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity. The ANKRD11 protein is found in nerve cells (neurons) in the brain. It plays a role in the proper development of the brain and may be involved in the ability of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 may function in other cells in the body and appears to be involved in normal bone development. Most of the ANKRD11 gene mutations involved in KBG syndrome lead to an abnormally short ANKRD11 protein, which likely has little or no function. Reduction of this protein's function is thought to underlie the signs and symptoms of the condition. Because ANKRD11 is thought to play an important role in neurons and brain development, researchers speculate that a partial loss of its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not fully known. It is also unclear how loss of ANKRD11 function leads to the skeletal features of the condition.",GHR,KBG syndrome +Is KBG syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,KBG syndrome +What are the treatments for KBG syndrome ?,These resources address the diagnosis or management of KBG syndrome: - Genetic Testing Registry: KBG syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,KBG syndrome +What is (are) Alpers-Huttenlocher syndrome ?,"Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease. People with Alpers-Huttenlocher syndrome usually have additional signs and symptoms. Most have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). Neuropathy can lead to abnormal or absent reflexes (areflexia). In addition, affected individuals may develop weak muscle tone (hypotonia) that worsens until they lose the ability to control their muscles and movement. Some people with Alpers-Huttenlocher syndrome lose the ability to walk, sit, or feed themselves. Other movement-related symptoms in affected individuals can include involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a pattern of movement abnormalities known as parkinsonism. Affected individuals may have other brain-related signs and symptoms. Migraine headaches, often with visual sensations or auras, are common. Additionally, people with this condition may have decreased brain function that is demonstrated as sleepiness, inability to concentrate, irritability, or loss of language skills or memory. Some people with the condition may lose their eyesight or hearing. People with Alpers-Huttenlocher syndrome can survive from a few months to more than 10 years after the condition first appears.",GHR,Alpers-Huttenlocher syndrome +How many people are affected by Alpers-Huttenlocher syndrome ?,"The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.",GHR,Alpers-Huttenlocher syndrome +What are the genetic changes related to Alpers-Huttenlocher syndrome ?,"Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol ""reads"" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in a reduced number of copies of mtDNA (mtDNA depletion), particularly in muscle, brain, and liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of Alpers-Huttenlocher syndrome. A mutation in the POLG gene has not been identified in approximately 13 percent of people diagnosed with Alpers-Huttenlocher syndrome. Researchers are working to identify other genes that may be responsible for the condition.",GHR,Alpers-Huttenlocher syndrome +Is Alpers-Huttenlocher syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Alpers-Huttenlocher syndrome +What are the treatments for Alpers-Huttenlocher syndrome ?,These resources address the diagnosis or management of Alpers-Huttenlocher syndrome: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Progressive sclerosing poliodystrophy - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Alpers-Huttenlocher syndrome +What is (are) juvenile Batten disease ?,"Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness. After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties. Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder.",GHR,juvenile Batten disease +How many people are affected by juvenile Batten disease ?,"Juvenile Batten disease is the most common type of NCL, but its exact prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.",GHR,juvenile Batten disease +What are the genetic changes related to juvenile Batten disease ?,"Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. These mutations somehow disrupt the function of cellular structures called lysosomes. Lysosomes are compartments in the cell that normally digest and recycle different types of molecules. Lysosome malfunction leads to a buildup of fatty substances called lipopigments within these cell structures. These accumulations occur in cells throughout the body, but neurons in the brain seem to be particularly vulnerable to the damage caused by lipopigments. The progressive death of cells, especially in the brain, leads to vision loss, seizures, and intellectual decline in people with juvenile Batten disease. A small percentage of cases of juvenile Batten disease are caused by mutations in other genes. Many of these genes are involved in lysosomal function, and when mutated, can cause this or other forms of NCL.",GHR,juvenile Batten disease +Is juvenile Batten disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,juvenile Batten disease +What are the treatments for juvenile Batten disease ?,These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of Excellence - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Juvenile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,juvenile Batten disease +What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ?,"Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia. A few years after the muscle weakness begins, affected individuals start to experience recurrent seizures (epilepsy). Most people with SMA-PME have a variety of seizure types. In addition to myoclonic epilepsy, they may have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals can also have absence seizures, which cause loss of consciousness for a short period that may or may not be accompanied by muscle jerks. In SMA-PME, seizures often increase in frequency over time and are usually not well-controlled with medication. Individuals with SMA-PME may also have episodes of rhythmic shaking (tremors), usually in the hands; these tremors are not thought to be related to epilepsy. Some people with SMA-PME develop hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). Individuals with SMA-PME have a shortened lifespan; they generally live into late childhood or early adulthood. The cause of death is often respiratory failure or pneumonia.",GHR,spinal muscular atrophy with progressive myoclonic epilepsy +How many people are affected by spinal muscular atrophy with progressive myoclonic epilepsy ?,SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature.,GHR,spinal muscular atrophy with progressive myoclonic epilepsy +What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ?,"SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells. ASAH1 gene mutations that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. Inefficient breakdown of ceramides and impaired production of its breakdown products likely play a role in the nerve cell damage that leads to the features of SMA-PME, but the exact mechanism is unknown.",GHR,spinal muscular atrophy with progressive myoclonic epilepsy +Is spinal muscular atrophy with progressive myoclonic epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spinal muscular atrophy with progressive myoclonic epilepsy +What are the treatments for spinal muscular atrophy with progressive myoclonic epilepsy ?,These resources address the diagnosis or management of spinal muscular atrophy with progressive myoclonic epilepsy: - Genetic Testing Registry: Jankovic Rivera syndrome - Muscular Dystrophy Association: Spinal Muscular Atrophy Types These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinal muscular atrophy with progressive myoclonic epilepsy +What is (are) epidermolysis bullosa simplex ?,"Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy. Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms. The mildest form of epidermolysis bullosa simplex, known as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. Later in life, skin on the palms of the hands and soles of the feet may thicken and harden (hyperkeratosis). The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles. Another form of epidermolysis bullosa simplex, known as the other generalized type (formerly called the Koebner type), is associated with widespread blisters that appear at birth or in early infancy. The blistering tends to be less severe than in the Dowling-Meara type. Epidermolysis bullosa simplex with mottled pigmentation is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth. In addition to the four major types described above, researchers have identified another skin condition related to epidermolysis bullosa simplex, which they call the Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether the Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa. Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.",GHR,epidermolysis bullosa simplex +How many people are affected by epidermolysis bullosa simplex ?,"The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition.",GHR,epidermolysis bullosa simplex +What are the genetic changes related to epidermolysis bullosa simplex ?,"The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene prevent the keratin proteins from assembling into strong networks, causing cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. In rare cases, no KRT5 or KRT14 gene mutations are identified in people with one of the four major types of epidermolysis bullosa simplex. Mutations in another gene, PLEC, have been associated with the rare Ogna type of epidermolysis bullosa simplex. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers are working to determine how PLEC gene mutations lead to the major features of the condition.",GHR,epidermolysis bullosa simplex +Is epidermolysis bullosa simplex inherited ?,"Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare cases, epidermolysis bullosa simplex is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder.",GHR,epidermolysis bullosa simplex +What are the treatments for epidermolysis bullosa simplex ?,"These resources address the diagnosis or management of epidermolysis bullosa simplex: - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa Simplex - Genetic Testing Registry: Epidermolysis bullosa simplex - Genetic Testing Registry: Epidermolysis bullosa simplex with mottled pigmentation - Genetic Testing Registry: Epidermolysis bullosa simplex, Cockayne-Touraine type - Genetic Testing Registry: Epidermolysis bullosa simplex, Koebner type - Genetic Testing Registry: Epidermolysis bullosa simplex, Ogna type - Genetic Testing Registry: Epidermolysis bullosa simplex, autosomal recessive - MedlinePlus Encyclopedia: Epidermolysis Bullosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,epidermolysis bullosa simplex +What is (are) ring chromosome 14 syndrome ?,"Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking. Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.",GHR,ring chromosome 14 syndrome +How many people are affected by ring chromosome 14 syndrome ?,"Ring chromosome 14 syndrome appears to be a rare condition, although its prevalence is unknown. More than 50 affected individuals have been reported in the medical literature.",GHR,ring chromosome 14 syndrome +What are the genetic changes related to ring chromosome 14 syndrome ?,"Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 14 are lost when the ring chromosome forms. The loss of these genes is likely responsible for several of the major features of ring chromosome 14 syndrome, including intellectual disability and delayed development. Researchers are still working to determine which missing genes contribute to the signs and symptoms of this disorder. Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. There may be something about the ring structure itself that causes epilepsy. Seizures may occur because certain genes on the ring chromosome 14 are less active than those on the normal chromosome 14. Alternately, seizures might result from instability of the ring chromosome in some cells.",GHR,ring chromosome 14 syndrome +Is ring chromosome 14 syndrome inherited ?,"Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most affected individuals have no history of the disorder in their families. However, at least two families have been reported in which a ring chromosome 14 was passed from a mother to her children.",GHR,ring chromosome 14 syndrome +What are the treatments for ring chromosome 14 syndrome ?,These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ring chromosome 14 syndrome +What is (are) spondylocarpotarsal synostosis syndrome ?,"Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis). Affected individuals also have abnormalities of the wrist (carpal) and ankle (tarsal) bones and inward- and upward-turning feet (clubfeet). Characteristic facial features include a round face, a large forehead (frontal bossing), and nostrils that open to the front rather than downward (anteverted nares). Some people with spondylocarpotarsal synostosis syndrome have an opening in the roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet, or an unusually large range of joint movement (hypermobility). Individuals with this disorder can survive into adulthood. Intelligence is generally unaffected, although mild developmental delay has been reported in some affected individuals.",GHR,spondylocarpotarsal synostosis syndrome +How many people are affected by spondylocarpotarsal synostosis syndrome ?,Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified.,GHR,spondylocarpotarsal synostosis syndrome +What are the genetic changes related to spondylocarpotarsal synostosis syndrome ?,"Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause spondylocarpotarsal synostosis syndrome result in the production of an abnormally short filamin B protein that is unstable and breaks down rapidly. Loss of the filamin B protein appears to result in out-of-place (ectopic) ossification, resulting in fusion of the bones in the spine, wrists, and ankles and other signs and symptoms of spondylocarpotarsal synostosis syndrome. A few individuals who have been diagnosed with spondylocarpotarsal synostosis syndrome do not have mutations in the FLNB gene. In these cases, the genetic cause of the disorder is unknown.",GHR,spondylocarpotarsal synostosis syndrome +Is spondylocarpotarsal synostosis syndrome inherited ?,"Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In a few individuals with signs and symptoms similar to those of spondylocarpotarsal synostosis syndrome but without FLNB gene mutations, the condition appears to have been inherited in an autosomal dominant pattern. Autosomal dominant means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,spondylocarpotarsal synostosis syndrome +What are the treatments for spondylocarpotarsal synostosis syndrome ?,These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spondylocarpotarsal synostosis syndrome +What is (are) Axenfeld-Rieger syndrome ?,"Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye. About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness. The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth. Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.",GHR,Axenfeld-Rieger syndrome +How many people are affected by Axenfeld-Rieger syndrome ?,"Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people.",GHR,Axenfeld-Rieger syndrome +What are the genetic changes related to Axenfeld-Rieger syndrome ?,"Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye. Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. Affected individuals with PITX2 gene mutations are more likely than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye. Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes. In these individuals, the cause of the condition is unknown. Other as-yet-unidentified genes may also cause Axenfeld-Rieger syndrome.",GHR,Axenfeld-Rieger syndrome +Is Axenfeld-Rieger syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Axenfeld-Rieger syndrome +What are the treatments for Axenfeld-Rieger syndrome ?,These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 - Genetic Testing Registry: Rieger syndrome - Glaucoma Research Foundation: Care and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Axenfeld-Rieger syndrome +What is (are) cystinosis ?,"Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected. There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men. The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties. People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.",GHR,cystinosis +How many people are affected by cystinosis ?,"Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals.",GHR,cystinosis +What are the genetic changes related to cystinosis ?,"All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is defective or missing, cystine accumulates and forms crystals in the lysosomes. The buildup of cystine damages cells in the kidneys and eyes and may also affect other organs.",GHR,cystinosis +Is cystinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cystinosis +What are the treatments for cystinosis ?,"These resources address the diagnosis or management of cystinosis: - Cystinosis Research Foundation: Treatment - Cystinosis Research Network: Symptoms and Treatment - Gene Review: Gene Review: Cystinosis - Genetic Testing Registry: Cystinosis - Genetic Testing Registry: Cystinosis, ocular nonnephropathic - Genetic Testing Registry: Juvenile nephropathic cystinosis - MedlinePlus Encyclopedia: Fanconi Syndrome - MedlinePlus Encyclopedia: Photophobia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cystinosis +What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?,"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure. About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Rarely, this condition can weaken bones so much that they break (fracture). In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. Frontotemporal dementia progressively damages parts of the brain that control reasoning, personality, social skills, speech, and language. People with this condition initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Personality changes, a loss of judgment, and inappropriate social behavior are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves. People with IBMPFD usually live into their fifties or sixties.",GHR,inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +How many people are affected by inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?,"Although the prevalence of IBMPFD is unknown, this condition is rare. It has been identified in about 26 families.",GHR,inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +What are the genetic changes related to inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?,"Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene alter the structure of valosin-containing protein, disrupting its ability to break down other proteins. As a result, excess and abnormal proteins may build up in muscle, bone, and brain cells. The proteins form clumps that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.",GHR,inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?,These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,inclusion body myopathy with early-onset Paget disease and frontotemporal dementia +What is (are) tuberous sclerosis complex ?,"Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications. Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).",GHR,tuberous sclerosis complex +How many people are affected by tuberous sclerosis complex ?,"Tuberous sclerosis complex affects about 1 in 6,000 people.",GHR,tuberous sclerosis complex +What are the genetic changes related to tuberous sclerosis complex ?,"Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. People with tuberous sclerosis complex are born with one mutated copy of the TSC1 or TSC2 gene in each cell. This mutation prevents the cell from making functional hamartin or tuberin from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For some types of tumors to develop, a second mutation involving the other copy of the TSC1 or TSC2 gene must occur in certain cells during a person's lifetime. When both copies of the TSC1 gene are mutated in a particular cell, that cell cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of these proteins allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with tuberous sclerosis complex, a second TSC1 or TSC2 mutation typically occurs in multiple cells over an affected person's lifetime. The loss of hamartin or tuberin in different types of cells leads to the growth of tumors in many different organs and tissues.",GHR,tuberous sclerosis complex +Is tuberous sclerosis complex inherited ?,"Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases.",GHR,tuberous sclerosis complex +What are the treatments for tuberous sclerosis complex ?,These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,tuberous sclerosis complex +What is (are) nonsyndromic aplasia cutis congenita ?,"Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.",GHR,nonsyndromic aplasia cutis congenita +How many people are affected by nonsyndromic aplasia cutis congenita ?,"Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown.",GHR,nonsyndromic aplasia cutis congenita +What are the genetic changes related to nonsyndromic aplasia cutis congenita ?,"Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin growth may be involved. It is thought that impairments of skin growth more commonly affect the skin at the top of the head because that region needs to be able to grow quickly to cover the fast-growing skull of a developing baby. In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. In addition, certain viral infections in a pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia cutis congenita. Other cases are thought to be caused by injury to the baby during development.",GHR,nonsyndromic aplasia cutis congenita +Is nonsyndromic aplasia cutis congenita inherited ?,"Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, the condition appears to follow an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,nonsyndromic aplasia cutis congenita +What are the treatments for nonsyndromic aplasia cutis congenita ?,These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nonsyndromic aplasia cutis congenita +What is (are) Kearns-Sayre syndrome ?,"Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF). People with Kearns-Sayre syndrome may also experience muscle weakness in their limbs, deafness, kidney problems, or a deterioration of cognitive functions (dementia). Affected individuals often have short stature. In addition, diabetes mellitus is occasionally seen in people with Kearns-Sayre syndrome. When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. The abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. A related condition called ophthalmoplegia-plus may be diagnosed if an individual has many of the signs and symptoms of Kearns-Sayre syndrome but not all the criteria are met.",GHR,Kearns-Sayre syndrome +How many people are affected by Kearns-Sayre syndrome ?,"The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.",GHR,Kearns-Sayre syndrome +What are the genetic changes related to Kearns-Sayre syndrome ?,"Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA, ranging from 1,000 to 10,000 DNA building blocks (nucleotides). The cause of the deletion in affected individuals is unknown. The mtDNA deletions that cause Kearns-Sayre syndrome result in the loss of genes important for mitochondrial protein formation and oxidative phosphorylation. The most common deletion removes 4,997 nucleotides, which includes twelve mitochondrial genes. Deletions of mtDNA result in impairment of oxidative phosphorylation and a decrease in cellular energy production. Regardless of which genes are deleted, all steps of oxidative phosphorylation are affected. Researchers have not determined how these deletions lead to the specific signs and symptoms of Kearns-Sayre syndrome, although the features of the condition are probably related to a lack of cellular energy. It has been suggested that eyes are commonly affected by mitochondrial defects because they are especially dependent on mitochondria for energy.",GHR,Kearns-Sayre syndrome +Is Kearns-Sayre syndrome inherited ?,"This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.",GHR,Kearns-Sayre syndrome +What are the treatments for Kearns-Sayre syndrome ?,These resources address the diagnosis or management of Kearns-Sayre syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Kearns Sayre syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kearns-Sayre syndrome +What is (are) hypohidrotic ectodermal dysplasia ?,"Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. This condition is also characterized by absent teeth (hypodontia) or teeth that are malformed. The teeth that are present are frequently small and pointed. Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nose (ozena).",GHR,hypohidrotic ectodermal dysplasia +How many people are affected by hypohidrotic ectodermal dysplasia ?,"Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide.",GHR,hypohidrotic ectodermal dysplasia +What are the genetic changes related to hypohidrotic ectodermal dysplasia ?,"Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth. The improper formation of these ectodermal structures leads to the characteristic features of hypohidrotic ectodermal dysplasia.",GHR,hypohidrotic ectodermal dysplasia +Is hypohidrotic ectodermal dysplasia inherited ?,"Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition. These signs and symptoms are usually mild and include a few missing or abnormal teeth, sparse hair, and some problems with sweat gland function. Some carriers, however, have more severe features of this disorder. Less commonly, hypohidrotic ectodermal dysplasia results from mutations in the EDAR or EDARADD gene. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD mutations have an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.",GHR,hypohidrotic ectodermal dysplasia +What are the treatments for hypohidrotic ectodermal dysplasia ?,These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia: - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia - Genetic Testing Registry: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome - Genetic Testing Registry: Hypohidrotic X-linked ectodermal dysplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Ozena - MedlinePlus Encyclopedia: Sweating - absent These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypohidrotic ectodermal dysplasia +What is (are) dermatofibrosarcoma protuberans ?,"Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. The tumor typically grows slowly and can become a raised nodule. Occasionally, the tumor begins as a flat or depressed patch of skin (plaque). Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck. Affected individuals usually first show signs of this condition in their thirties, but the age at which a tumor appears varies widely. In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize). There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. Giant cell fibroblastoma, which is sometimes referred to as juvenile dermatofibrosarcoma protuberans because it typically affects children and adolescents, is characterized by giant cells in the tumor. Rarely, the tumors involved in the different types of dermatofibrosarcoma protuberans can have regions that look similar to fibrosarcoma, a more aggressive type of soft tissue sarcoma. In these cases, the condition is called fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than tumors in the other types of dermatofibrosarcoma protuberans.",GHR,dermatofibrosarcoma protuberans +How many people are affected by dermatofibrosarcoma protuberans ?,"Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year.",GHR,dermatofibrosarcoma protuberans +What are the genetic changes related to dermatofibrosarcoma protuberans ?,"Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. The translocation is found on one or more extra chromosomes that can be either the normal linear shape or circular. When circular, the extra chromosomes are known as supernumerary ring chromosomes. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. Other genes from chromosomes 17 and 22 can be found on the extra chromosomes, but the role these genes play in development of the condition is unclear. The translocation is acquired during a person's lifetime and the chromosomes containing the translocation are present only in the tumor cells. This type of genetic change is called a somatic mutation. In normal cells, the COL1A1 gene provides instructions for making part of a large molecule called type I collagen, which strengthens and supports many tissues in the body. The PDGFB gene provides instructions for making one version (isoform) of the platelet derived growth factor (PDGF) protein. By attaching to its receptor, the active PDGFB protein stimulates many cellular processes, including cell growth and division (proliferation) and maturation (differentiation). The abnormally fused COL1A1-PDGFB gene provides instructions for making an abnormal combined (fusion) protein that researchers believe ultimately functions like the PDGFB protein. The gene fusion leads to the production of an excessive amount of protein that functions like the PDGFB protein. In excess, this fusion protein stimulates cells to proliferate and differentiate abnormally, leading to the tumor formation seen in dermatofibrosarcoma protuberans. The COL1A1-PDGFB fusion gene is found in more than 90 percent of dermatofibrosarcoma protuberans cases. In the remaining cases, changes in other genes may be associated with this condition. These genes have not been identified.",GHR,dermatofibrosarcoma protuberans +Is dermatofibrosarcoma protuberans inherited ?,Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body's cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited.,GHR,dermatofibrosarcoma protuberans +What are the treatments for dermatofibrosarcoma protuberans ?,These resources address the diagnosis or management of dermatofibrosarcoma protuberans: - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? - American Cancer Society: Treatment of Soft Tissue Sarcomas - Genetic Testing Registry: Dermatofibrosarcoma protuberans - National Cancer Institute: Adult Soft Tissue Sarcoma - National Cancer Institute: Targeted Cancer Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dermatofibrosarcoma protuberans +What is (are) Pitt-Hopkins syndrome ?,"Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. Breathing problems in individuals with Pitt-Hopkins syndrome are characterized by episodes of rapid breathing (hyperventilation) followed by periods in which breathing slows or stops (apnea). These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. Some older individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in the blood. The breathing problems occur only when the person is awake and typically first appear in mid-childhood, but they can begin as early as infancy. Episodes of hyperventilation and apnea can be triggered by emotions such as excitement or anxiety or by extreme tiredness (fatigue). Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins during childhood, although it can be present from birth. Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full lips, and widely spaced teeth. The ears are usually thick and cup-shaped. Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. However, they can also experience anxiety and behavioral problems. Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism).",GHR,Pitt-Hopkins syndrome +How many people are affected by Pitt-Hopkins syndrome ?,Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.,GHR,Pitt-Hopkins syndrome +What are the genetic changes related to Pitt-Hopkins syndrome ?,"Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis). TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. These disruptions, particularly the inability of the TCF4 protein to control the activity of genes involved in nervous system development and function, contribute to the signs and symptoms of Pitt-Hopkins syndrome. Furthermore, additional proteins interact with the TCF4 protein to carry out specific functions. When the TCF4 protein is nonfunctional, these other proteins are also unable to function normally. It is also likely that the loss of the normal proteins that are attached to the nonfunctional TCF4 proteins contribute to the features of this condition. The loss of one protein in particular, the ASCL1 protein, is thought to be associated with breathing problems in people with Pitt-Hopkins syndrome.",GHR,Pitt-Hopkins syndrome +Is Pitt-Hopkins syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Pitt-Hopkins syndrome +What are the treatments for Pitt-Hopkins syndrome ?,These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pitt-Hopkins syndrome +What is (are) PPM-X syndrome ?,"PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.",GHR,PPM-X syndrome +How many people are affected by PPM-X syndrome ?,The prevalence of PPM-X syndrome is unknown.,GHR,PPM-X syndrome +What are the genetic changes related to PPM-X syndrome ?,"Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein likely plays a role in maintaining connections (synapses) between nerve cells. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of PPM-X syndrome. Some MECP2 gene mutations that cause PPM-X syndrome disrupt attachment (binding) of the MeCP2 protein to DNA, and other mutations alter the 3-dimensional shape of the protein. These mutations lead to the production of a MeCP2 protein that cannot properly interact with DNA or other proteins and so cannot control the expression of genes. It is unclear how MECP2 gene mutations lead to the signs and symptoms of PPM-X syndrome, but misregulation of genes in the brain likely plays a role.",GHR,PPM-X syndrome +Is PPM-X syndrome inherited ?,"More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that PPM-X syndrome has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. One copy of the altered gene in each cell is sufficient to cause the condition, although females with one altered copy of the gene are usually less severely affected than males.",GHR,PPM-X syndrome +What are the treatments for PPM-X syndrome ?,These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,PPM-X syndrome +What is (are) cardiofaciocutaneous syndrome ?,"Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as ""coarse."" Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows. Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.",GHR,cardiofaciocutaneous syndrome +How many people are affected by cardiofaciocutaneous syndrome ?,Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition.,GHR,cardiofaciocutaneous syndrome +What are the genetic changes related to cardiofaciocutaneous syndrome ?,"Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutations in the KRAS gene. The BRAF, MAP2K1, MAP2K2, and KRAS genes provide instructions for making proteins that work together to transmit chemical signals from outside the cell to the cell's nucleus. This chemical signaling pathway, known as the RAS/MAPK pathway, is essential for normal development before birth. It helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Mutations in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. The protein made from the mutated gene is overactive, which alters tightly regulated chemical signaling during development. The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified mutation in the BRAF, MAP2K1, MAP2K2, or KRAS gene. In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by mutations in genes involved in RAS/MAPK signaling. The proteins produced from these genes are all part of the same chemical signaling pathway, which helps explain why mutations in different genes can cause conditions with such similar signs and symptoms. The group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome is often called the RASopathies.",GHR,cardiofaciocutaneous syndrome +Is cardiofaciocutaneous syndrome inherited ?,"Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent.",GHR,cardiofaciocutaneous syndrome +What are the treatments for cardiofaciocutaneous syndrome ?,These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cardiofaciocutaneous syndrome +What is (are) Ghosal hematodiaphyseal dysplasia ?,"Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking. Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia.Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).",GHR,Ghosal hematodiaphyseal dysplasia +How many people are affected by Ghosal hematodiaphyseal dysplasia ?,Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India.,GHR,Ghosal hematodiaphyseal dysplasia +What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ?,"Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, researchers suspect that thromboxane A synthase 1 may also be important for bone remodeling, which is a normal process in which old bone is removed and new bone is created to replace it, and for the production of red blood cells in bone marrow. Mutations in the TBXAS1 gene severely reduce the activity of thromboxane A synthase 1. Studies suggest that a lack of this enzyme's activity may lead to abnormal bone remodeling and fibrosis of the bone marrow. However, the mechanism by which a shortage of thromboxane A synthase 1 activity leads to the particular abnormalities characteristic of Ghosal hematodiaphyseal dysplasia is unclear.",GHR,Ghosal hematodiaphyseal dysplasia +Is Ghosal hematodiaphyseal dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Ghosal hematodiaphyseal dysplasia +What are the treatments for Ghosal hematodiaphyseal dysplasia ?,"These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Ghosal hematodiaphyseal dysplasia +What is (are) Bart-Pumphrey syndrome ?,"Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood. The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.",GHR,Bart-Pumphrey syndrome +How many people are affected by Bart-Pumphrey syndrome ?,Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified.,GHR,Bart-Pumphrey syndrome +What are the genetic changes related to Bart-Pumphrey syndrome ?,"Bart-Pumphrey syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause Bart-Pumphrey syndrome change single protein building blocks (amino acids) in the connexin 26 protein. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses.",GHR,Bart-Pumphrey syndrome +Is Bart-Pumphrey syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Bart-Pumphrey syndrome +What are the treatments for Bart-Pumphrey syndrome ?,"These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Bart-Pumphrey syndrome +What is (are) coloboma ?,"Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a ""keyhole"" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.",GHR,coloboma +How many people are affected by coloboma ?,"Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.",GHR,coloboma +What are the genetic changes related to coloboma ?,"Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The location of the coloboma depends on the part of the optic fissure that failed to close. Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals. The risk of coloboma may also be increased by environmental factors that affect early development, such as exposure to alcohol during pregnancy. In these cases, affected individuals usually have other health problems in addition to coloboma.",GHR,coloboma +Is coloboma inherited ?,"Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Less commonly, isolated coloboma may have X-linked dominant or X-linked recessive patterns of inheritance. X-linked means that a gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. X-linked recessive means that in females, a mutation would have to occur in both copies of a gene to cause the disorder. In males, one altered copy of a gene in each cell is sufficient to cause the condition. Because it is unlikely that females will have two altered copies of a particular gene, males are affected by X-linked recessive disorders much more frequently than females. When coloboma occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked.",GHR,coloboma +What are the treatments for coloboma ?,"These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6 - National Eye Institute: Facts About Uveal Coloboma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,coloboma +What is (are) hypomagnesemia with secondary hypocalcemia ?,"Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as ""secondary"" because it occurs as a consequence of hypomagnesemia. Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure.",GHR,hypomagnesemia with secondary hypocalcemia +How many people are affected by hypomagnesemia with secondary hypocalcemia ?,"Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown.",GHR,hypomagnesemia with secondary hypocalcemia +What are the genetic changes related to hypomagnesemia with secondary hypocalcemia ?,"Hypomagnesemia with secondary hypocalcemia is caused by mutations in the TRPM6 gene. This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass into cells. Magnesium is involved in many cell processes, including production of cellular energy, maintenance of DNA building blocks (nucleotides), protein production, and cell growth and death. Magnesium and calcium are also required for the normal functioning of nerve cells that control muscle movement (motor neurons). The TRPM6 channel is embedded in the membrane of epithelial cells that line the large intestine, structures in the kidneys known as distal convoluted tubules, the lungs, and the testes in males. When the body needs additional Mg2+, the TRPM6 channel allows it to be absorbed in the intestine and filtered from the fluids that pass through the kidneys by the distal convoluted tubules. When the body has sufficient or too much Mg2+, the TRPM6 channel does not filter out the Mg2+ from fluids but allows the ion to be released from the kidney cells into the urine. The channel also helps to regulate Ca2+, but to a lesser degree. Most TRPM6 gene mutations that cause hypomagnesemia with secondary hypocalcemia result in a lack of functional protein. A loss of functional TRPM6 channels prevent Mg2+ absorption in the intestine and cause excessive amounts of Mg2+ to be excreted by the kidneys and released in the urine. A lack of Mg2+ in the body impairs the production of parathyroid hormone, which likely reduces blood Ca2+ levels. Additionally, hypomagnesemia and hypocalcemia can disrupt many cell processes and impair the function of motor neurons, leading to neurological problems and movement disorders. If the condition is not effectively treated and low Mg2+ levels persist, signs and symptoms can worsen over time and may lead to early death.",GHR,hypomagnesemia with secondary hypocalcemia +Is hypomagnesemia with secondary hypocalcemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hypomagnesemia with secondary hypocalcemia +What are the treatments for hypomagnesemia with secondary hypocalcemia ?,"These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hypomagnesemia with secondary hypocalcemia +What is (are) X-linked adrenoleukodystrophy ?,"X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease only. Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the disorder progresses. Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin but may survive longer with intensive medical support. Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types. Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types. For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.",GHR,X-linked adrenoleukodystrophy +How many people are affected by X-linked adrenoleukodystrophy ?,"The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations.",GHR,X-linked adrenoleukodystrophy +What are the genetic changes related to X-linked adrenoleukodystrophy ?,"Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs. ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.",GHR,X-linked adrenoleukodystrophy +Is X-linked adrenoleukodystrophy inherited ?,"X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. Because females have two copies of the X chromosome, one altered copy of the ABCD1 gene in each cell usually does not cause any features of X-linked adrenoleukodystrophy; however, some females with one altered copy of the gene have health problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy type.",GHR,X-linked adrenoleukodystrophy +What are the treatments for X-linked adrenoleukodystrophy ?,These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Adrenoleukodystrophy - National Marrow Donor Program - X-linked Adrenoleukodystrophy Database: Diagnosis of X-ALD These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked adrenoleukodystrophy +What is (are) glycogen storage disease type 0 ?,"Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired. The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0. Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (hypoglycemia) after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and sugar levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.",GHR,glycogen storage disease type 0 +How many people are affected by glycogen storage disease type 0 ?,"The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed.",GHR,glycogen storage disease type 0 +What are the genetic changes related to glycogen storage disease type 0 ?,"Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. These genes provide instructions for making different versions of an enzyme called glycogen synthase. Both versions of glycogen synthase have the same function, to form glycogen molecules by linking together molecules of the simple sugar glucose, although they perform this function in different regions of the body. The GYS1 gene provides instructions for making muscle glycogen synthase; this form of the enzyme is produced in most cells, but it is especially abundant in heart (cardiac) muscle and the muscles used for movement (skeletal muscles). During cardiac muscle contractions or rapid or sustained movement of skeletal muscle, glycogen stored in muscle cells is broken down to supply the cells with energy. The GYS2 gene provides instructions for making liver glycogen synthase, which is produced solely in liver cells. Glycogen that is stored in the liver can be broken down rapidly when glucose is needed to maintain normal blood sugar levels between meals. Mutations in the GYS1 or GYS2 gene lead to a lack of functional glycogen synthase, which prevents the production of glycogen from glucose. Mutations that cause GSD 0 result in a complete absence of glycogen in either liver or muscle cells. As a result, these cells do not have glycogen as a source of stored energy to draw upon following physical activity or fasting. This shortage of glycogen leads to the signs and symptoms of GSD 0.",GHR,glycogen storage disease type 0 +Is glycogen storage disease type 0 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type 0 +What are the treatments for glycogen storage disease type 0 ?,"These resources address the diagnosis or management of glycogen storage disease type 0: - Genetic Testing Registry: Glycogen storage disease 0, muscle - Genetic Testing Registry: Hypoglycemia with deficiency of glycogen synthetase in the liver These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type 0 +What is (are) mucopolysaccharidosis type II ?,"Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open. Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure. Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs. There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.",GHR,mucopolysaccharidosis type II +How many people are affected by mucopolysaccharidosis type II ?,"MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.",GHR,mucopolysaccharidosis type II +What are the genetic changes related to mucopolysaccharidosis type II ?,"Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDS gene reduce or completely eliminate the function of the I2S enzyme. Lack of I2S enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.",GHR,mucopolysaccharidosis type II +Is mucopolysaccharidosis type II inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,mucopolysaccharidosis type II +What are the treatments for mucopolysaccharidosis type II ?,"These resources address the diagnosis or management of mucopolysaccharidosis type II: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type II - Genetic Testing Registry: Mucopolysaccharidosis, MPS-II - MedlinePlus Encyclopedia: Hunter syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,mucopolysaccharidosis type II +What is (are) celiac disease ?,"Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus. Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form. Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin. Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy. In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.",GHR,celiac disease +How many people are affected by celiac disease ?,Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide.,GHR,celiac disease +What are the genetic changes related to celiac disease ?,"The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. The proteins produced from the HLA-DQA1 and HLA-DQB1 genes attach (bind) to each other to form a functional protein complex called an antigen-binding DQ heterodimer. This complex, which is present on the surface of certain immune system cells, attaches to protein fragments (peptides) outside the cell. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria. Celiac disease is associated with an inappropriate immune response to a segment of the gluten protein called gliadin. This inappropriate activation of the immune system causes inflammation that damages the body's organs and tissues and leads to the signs and symptoms of celiac disease. Almost all people with celiac disease have specific variants of the HLA-DQA1 and HLA-DQB1 genes, which seem to increase the risk of an inappropriate immune response to gliadin. However, these variants are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease. It appears likely that other contributors, such as environmental factors and changes in other genes, also influence the development of this complex disorder.",GHR,celiac disease +Is celiac disease inherited ?,"Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown.",GHR,celiac disease +What are the treatments for celiac disease ?,"These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachusetts General Hospital Center for Celiac Research and Treatment - MedlinePlus Encyclopedia: Celiac Disease Nutritional Considerations - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide - University of Chicago Celiac Disease Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,celiac disease +What is (are) IRAK-4 deficiency ?,"IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age. Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.",GHR,IRAK-4 deficiency +How many people are affected by IRAK-4 deficiency ?,"IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown. At least 49 individuals with this condition have been described in the scientific literature.",GHR,IRAK-4 deficiency +What are the genetic changes related to IRAK-4 deficiency ?,"IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response, which is the body's early, nonspecific response to pathogens. Mutations in the IRAK4 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional IRAK-4 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.",GHR,IRAK-4 deficiency +Is IRAK-4 deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,IRAK-4 deficiency +What are the treatments for IRAK-4 deficiency ?,These resources address the diagnosis or management of IRAK-4 deficiency: - Genetic Testing Registry: IRAK4 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,IRAK-4 deficiency +What is (are) Weissenbacher-Zweymller syndrome ?,"Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.",GHR,Weissenbacher-Zweymller syndrome +How many people are affected by Weissenbacher-Zweymller syndrome ?,Weissenbacher-Zweymller syndrome is very rare; only a few families with the disorder have been reported worldwide.,GHR,Weissenbacher-Zweymller syndrome +What are the genetic changes related to Weissenbacher-Zweymller syndrome ?,"Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.",GHR,Weissenbacher-Zweymller syndrome +Is Weissenbacher-Zweymller syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Weissenbacher-Zweymller syndrome +What are the treatments for Weissenbacher-Zweymller syndrome ?,These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Weissenbacher-Zweymller syndrome +What is (are) hereditary angioedema ?,"Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family. There are three types of hereditary angioedema, called types I, II, and III, which can be distinguished by their underlying causes and levels of a protein called C1 inhibitor in the blood. The different types have similar signs and symptoms. Type III was originally thought to occur only in women, but families with affected males have been identified.",GHR,hereditary angioedema +How many people are affected by hereditary angioedema ?,"Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare.",GHR,hereditary angioedema +What are the genetic changes related to hereditary angioedema ?,"Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary angioedema type I lead to reduced levels of C1 inhibitor in the blood, while mutations that cause type II result in the production of a C1 inhibitor that functions abnormally. Without the proper levels of functional C1 inhibitor, excessive amounts of a protein fragment (peptide) called bradykinin are generated. Bradykinin promotes inflammation by increasing the leakage of fluid through the walls of blood vessels into body tissues. Excessive accumulation of fluids in body tissues causes the episodes of swelling seen in individuals with hereditary angioedema type I and type II. Mutations in the F12 gene are associated with some cases of hereditary angioedema type III. This gene provides instructions for making a protein called coagulation factor XII. In addition to playing a critical role in blood clotting (coagulation), factor XII is also an important stimulator of inflammation and is involved in the production of bradykinin. Certain mutations in the F12 gene result in the production of factor XII with increased activity. As a result, more bradykinin is generated and blood vessel walls become more leaky, which leads to episodes of swelling in people with hereditary angioedema type III. The cause of other cases of hereditary angioedema type III remains unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.",GHR,hereditary angioedema +Is hereditary angioedema inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,hereditary angioedema +What are the treatments for hereditary angioedema ?,These resources address the diagnosis or management of hereditary angioedema: - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - Genetic Testing Registry: Hereditary angioneurotic edema - Genetic Testing Registry: Hereditary angioneurotic edema with normal C1 esterase inhibitor activity - MedlinePlus Encyclopedia: Hereditary angioedema These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary angioedema +What is (are) spondylothoracic dysostosis ?,"Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or ""crab"" appearance in x-rays. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition are born with a small chest that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia). Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.",GHR,spondylothoracic dysostosis +How many people are affected by spondylothoracic dysostosis ?,"Spondylothoracic dysostosis affects about one in 200,000 people worldwide. However, it is much more common in people of Puerto Rican ancestry, affecting approximately one in 12,000 people.",GHR,spondylothoracic dysostosis +What are the genetic changes related to spondylothoracic dysostosis ?,"The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. When the MESP2 protein is nonfunctional or absent, somite segmentation does not occur properly, which results in the malformation and fusion of the bones of the spine and ribs seen in spondylothoracic dysostosis.",GHR,spondylothoracic dysostosis +Is spondylothoracic dysostosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spondylothoracic dysostosis +What are the treatments for spondylothoracic dysostosis ?,"These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spondylothoracic dysostosis +What is (are) juvenile idiopathic arthritis ?,"Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have described seven types of juvenile idiopathic arthritis. The types are distinguished by their signs and symptoms, the number of joints affected, the results of laboratory tests, and the family history. Systemic juvenile idiopathic arthritis causes inflammation in one or more joints. A high daily fever that lasts at least 2 weeks either precedes or accompanies the arthritis. Individuals with systemic arthritis may also have a skin rash or enlargement of the lymph nodes (lymphadenopathy), liver (hepatomegaly), or spleen (splenomegaly). Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has no features other than joint inflammation. Oligoarthritis is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of the disease. It is divided into two subtypes depending on the course of disease. If the arthritis is confined to four or fewer joints after 6 months, then the condition is classified as persistent oligoarthritis. If more than four joints are affected after 6 months, this condition is classified as extended oligoarthritis. Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. This type of arthritis closely resembles rheumatoid arthritis as seen in adults. Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood. Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a condition characterized by patches of red, irritated skin that are often covered by flaky white scales. Some affected individuals develop psoriasis before arthritis while others first develop arthritis. Other features of psoriatic arthritis include abnormalities of the fingers and nails or eye problems. Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament or other connective tissue. This tenderness, known as enthesitis, accompanies the joint inflammation of arthritis. Enthesitis-related arthritis may also involve inflammation in parts of the body other than the joints. The last type of juvenile idiopathic arthritis is called undifferentiated arthritis. This classification is given to affected individuals who do not fit into any of the above types or who fulfill the criteria for more than one type of juvenile idiopathic arthritis.",GHR,juvenile idiopathic arthritis +How many people are affected by juvenile idiopathic arthritis ?,"The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups.",GHR,juvenile idiopathic arthritis +What are the genetic changes related to juvenile idiopathic arthritis ?,"Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term ""idiopathic"" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis, the inflammatory response is prolonged, particularly during movement of the joints. The reasons for this excessive inflammatory response are unclear. Researchers have identified changes in several genes that may influence the risk of developing juvenile idiopathic arthritis. Many of these genes belong to a family of genes that provide instructions for making a group of related proteins called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain normal variations of several HLA genes seem to affect the risk of developing juvenile idiopathic arthritis, and the specific type of the condition that a person may have. Normal variations in several other genes have also been associated with juvenile idiopathic arthritis. Many of these genes are thought to play roles in immune system function. Additional unknown genetic influences and environmental factors, such as infection and other issues that affect immune health, are also likely to influence a person's chances of developing this complex disorder.",GHR,juvenile idiopathic arthritis +Is juvenile idiopathic arthritis inherited ?,"Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a person with juvenile idiopathic arthritis has an estimated risk of developing the condition that is about 12 times that of the general population.",GHR,juvenile idiopathic arthritis +What are the treatments for juvenile idiopathic arthritis ?,"These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,juvenile idiopathic arthritis +What is (are) spina bifida ?,"Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood. In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.",GHR,spina bifida +How many people are affected by spina bifida ?,"Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans.",GHR,spina bifida +What are the genetic changes related to spina bifida ?,"Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with spina bifida and in their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for spina bifida. However, none of these genes appears to play a major role in causing the condition. Researchers have also examined environmental factors that could contribute to the risk of spina bifida. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible maternal risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.",GHR,spina bifida +Is spina bifida inherited ?,"Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of people with spina bifida have an increased risk of the condition compared with people in the general population.",GHR,spina bifida +What are the treatments for spina bifida ?,"These resources address the diagnosis or management of spina bifida: - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida - Centers for Disease Control and Prevention: Living with Spina Bifida - GeneFacts: Spina Bifida: Diagnosis - GeneFacts: Spina Bifida: Management - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive - Spina Bifida Association: Urologic Care and Management - University of California, San Francisco Fetal Treatment Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spina bifida +What is (are) Jervell and Lange-Nielsen syndrome ?,"Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.",GHR,Jervell and Lange-Nielsen syndrome +How many people are affected by Jervell and Lange-Nielsen syndrome ?,"Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.",GHR,Jervell and Lange-Nielsen syndrome +What are the genetic changes related to Jervell and Lange-Nielsen syndrome ?,"Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle. About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.",GHR,Jervell and Lange-Nielsen syndrome +Is Jervell and Lange-Nielsen syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have signs and symptoms affecting the heart, but their hearing is usually normal.",GHR,Jervell and Lange-Nielsen syndrome +What are the treatments for Jervell and Lange-Nielsen syndrome ?,These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome: - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Jervell and Lange-Nielsen syndrome +What is (are) phosphoribosylpyrophosphate synthetase superactivity ?,"Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure. There are two forms of PRS superactivity, a severe form that begins in infancy or early childhood, and a milder form that typically appears in late adolescence or early adulthood. In both forms, a kidney or bladder stone is often the first symptom. Gout and impairment of kidney function may develop if the condition is not adequately controlled with medication and dietary restrictions. People with the severe form may also have neurological problems, including hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.",GHR,phosphoribosylpyrophosphate synthetase superactivity +How many people are affected by phosphoribosylpyrophosphate synthetase superactivity ?,PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been reported. More than two thirds of these families are affected by the milder form of the disease.,GHR,phosphoribosylpyrophosphate synthetase superactivity +What are the genetic changes related to phosphoribosylpyrophosphate synthetase superactivity ?,"Certain mutations in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in producing purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. PRPP synthetase 1 and PRPP also play a key role in recycling purines from the breakdown of DNA and RNA, a faster and more efficient way of making purines available. In people with the more severe form of PRS superactivity, PRPS1 gene mutations change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme, resulting in a poorly regulated, overactive enzyme. In the milder form of PRS superactivity, the PRPS1 gene is overactive for reasons that are not well understood. PRPS1 gene overactivity increases the production of normal PRPP synthetase 1 enzyme, which increases the availability of PRPP. In both forms of the disorder, excessive amounts of purines are generated. Under these conditions, uric acid, a waste product of purine breakdown, accumulates in the body. A buildup of uric acid crystals can cause gout, kidney stones, and bladder stones. It is unclear how PRPS1 gene mutations are related to the neurological problems associated with the severe form of PRS superactivity.",GHR,phosphoribosylpyrophosphate synthetase superactivity +Is phosphoribosylpyrophosphate synthetase superactivity inherited ?,"This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. In most reported cases, affected individuals have inherited the mutation from a parent who carries an altered copy of the PRPS1 gene. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. PRS superactivity may also result from new mutations in the PRPS1 gene and can occur in people with no history of the disorder in their family.",GHR,phosphoribosylpyrophosphate synthetase superactivity +What are the treatments for phosphoribosylpyrophosphate synthetase superactivity ?,"These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,phosphoribosylpyrophosphate synthetase superactivity +"What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?","Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have short stature compared with others in their family. Many have a lack of fatty tissue under the skin (lipoatrophy), primarily in the face, arms, and chest. This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid. Most people with SHORT syndrome have distinctive facial features. These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. Some people with SHORT syndrome also have dental abnormalities such as delayed appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than normal (hypodontia), and a lack of protective covering (enamel) on the surface of the teeth. Other signs and symptoms that have been reported in people with SHORT syndrome include immune system abnormalities, a kidney disorder known as nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft out-pouching in the lower abdomen called an inguinal hernia. A few affected individuals have developed problems with blood sugar regulation including insulin resistance and diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild cognitive impairment or delayed development of speech in childhood.",GHR,"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" +"How many people are affected by short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?",SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide.,GHR,"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" +"What are the genetic changes related to short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?","SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood sugar levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes). Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might contribute to lipoatrophy in affected individuals. It is unclear how reduced PI3K signaling is associated with the other features of the condition.",GHR,"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" +"Is short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay inherited ?","SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.",GHR,"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" +"What are the treatments for short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?",These resources address the diagnosis or management of SHORT syndrome: - Gene Review: Gene Review: SHORT Syndrome - Genetic Testing Registry: SHORT syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" +What is (are) Ochoa syndrome ?,"Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure. Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention. Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.",GHR,Ochoa syndrome +How many people are affected by Ochoa syndrome ?,Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.,GHR,Ochoa syndrome +What are the genetic changes related to Ochoa syndrome ?,"Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder. Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.",GHR,Ochoa syndrome +Is Ochoa syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Ochoa syndrome +What are the treatments for Ochoa syndrome ?,These resources address the diagnosis or management of Ochoa syndrome: - Gene Review: Gene Review: Urofacial Syndrome - Genetic Testing Registry: Ochoa syndrome - National Institute of Diabetes and Digestive and Kidney Diseases: Urodynamic Testing - Scripps Health: Self-Catheterization -- Female - Scripps Health: Self-Catheterization -- Male These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Ochoa syndrome +What is (are) Rubinstein-Taybi syndrome ?,"Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.",GHR,Rubinstein-Taybi syndrome +How many people are affected by Rubinstein-Taybi syndrome ?,"This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.",GHR,Rubinstein-Taybi syndrome +What are the genetic changes related to Rubinstein-Taybi syndrome ?,"Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. Although a reduction in the amount of this protein disrupts normal development before and after birth, researchers have not determined how it leads to the specific signs and symptoms of Rubinstein-Taybi syndrome. Mutations in the EP300 gene cause a small percentage of cases of Rubinstein-Taybi syndrome. Like the CREBBP gene, this gene provides instructions for making a protein that helps control the activity of other genes. It also appears to be important for development before and after birth. EP300 mutations inactivate one copy of the gene in each cell, which interferes with normal development and causes the typical features of Rubinstein-Taybi syndrome. The signs and symptoms of this disorder in people with EP300 mutations are similar to those with mutations in the CREBBP gene; however, studies suggest that EP300 mutations may be associated with milder skeletal changes in the hands and feet. Some cases of severe Rubinstein-Taybi syndrome have resulted from a deletion of genetic material from the short (p) arm of chromosome 16. Several genes, including the CREBBP gene, are missing as a result of this deletion. Researchers believe that the loss of multiple genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome. About half of people with Rubinstein-Taybi syndrome do not have an identified mutation in the CREBBP or EP300 gene or a deletion in chromosome 16. The cause of the condition is unknown in these cases. Researchers predict that mutations in other genes are also responsible for the disorder.",GHR,Rubinstein-Taybi syndrome +Is Rubinstein-Taybi syndrome inherited ?,"This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Rubinstein-Taybi syndrome +What are the treatments for Rubinstein-Taybi syndrome ?,These resources address the diagnosis or management of Rubinstein-Taybi syndrome: - Gene Review: Gene Review: Rubinstein-Taybi Syndrome - Genetic Testing Registry: Rubinstein-Taybi syndrome - MedlinePlus Encyclopedia: Rubinstein-Taybi syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Rubinstein-Taybi syndrome +"What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ?","Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may also have eyes that do not point in the same direction (strabismus) or ""lazy eye"" (amblyopia) affecting one or both eyes. People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum). There are two types of BPES, which are distinguished by their signs and symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also associated with an early loss of ovarian function (primary ovarian insufficiency) in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. Primary ovarian insufficiency can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).",GHR,"blepharophimosis, ptosis, and epicanthus inversus syndrome" +"How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ?",The prevalence of BPES is unknown.,GHR,"blepharophimosis, ptosis, and epicanthus inversus syndrome" +"What are the genetic changes related to blepharophimosis, ptosis, and epicanthus inversus syndrome ?","Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development of certain ovarian cells and the breakdown of specific molecules. It is difficult to predict the type of BPES that will result from the many FOXL2 gene mutations. However, mutations that result in a partial loss of FOXL2 protein function generally cause BPES type II. These mutations probably impair regulation of normal development of muscles in the eyelids, resulting in malformed eyelids that cannot open fully. Mutations that lead to a complete loss of FOXL2 protein function often cause BPES type I. These mutations impair the regulation of eyelid development as well as various activities in the ovaries, resulting in eyelid malformation and abnormally accelerated maturation of certain ovarian cells and the premature death of egg cells.",GHR,"blepharophimosis, ptosis, and epicanthus inversus syndrome" +"Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ?","This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,"blepharophimosis, ptosis, and epicanthus inversus syndrome" +"What are the treatments for blepharophimosis, ptosis, and epicanthus inversus syndrome ?","These resources address the diagnosis or management of BPES: - Gene Review: Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus - Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"blepharophimosis, ptosis, and epicanthus inversus syndrome" +What is (are) isolated Duane retraction syndrome ?,"Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia (""lazy eye""), a condition that causes vision loss in the affected eye. About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward.",GHR,isolated Duane retraction syndrome +How many people are affected by isolated Duane retraction syndrome ?,"Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males.",GHR,isolated Duane retraction syndrome +What are the genetic changes related to isolated Duane retraction syndrome ?,"In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision.",GHR,isolated Duane retraction syndrome +Is isolated Duane retraction syndrome inherited ?,"Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome.",GHR,isolated Duane retraction syndrome +What are the treatments for isolated Duane retraction syndrome ?,These resources address the diagnosis or management of isolated Duane retraction syndrome: - Gene Review: Gene Review: Duane Syndrome - Genetic Testing Registry: Duane's syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isolated Duane retraction syndrome +What is (are) autosomal recessive hypotrichosis ?,"Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair. Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.",GHR,autosomal recessive hypotrichosis +How many people are affected by autosomal recessive hypotrichosis ?,"The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.",GHR,autosomal recessive hypotrichosis +What are the genetic changes related to autosomal recessive hypotrichosis ?,"Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands). Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals. In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems.",GHR,autosomal recessive hypotrichosis +Is autosomal recessive hypotrichosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive hypotrichosis +What are the treatments for autosomal recessive hypotrichosis ?,These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal recessive hypotrichosis +What is (are) multiple lentigines syndrome ?,"Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. These features vary, however, even among affected individuals in the same family. Not all individuals affected with multiple lentigines syndrome have all the characteristic features of this condition. The lentigines seen in multiple lentigines syndrome typically first appear in mid-childhood, mostly on the face, neck, and upper body. Affected individuals may have thousands of brown skin spots by the time they reach puberty. Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called caf-au-lait spots. Caf-au-lait spots tend to develop before the lentigines, appearing within the first year of life in most affected people. Abnormal electrical signaling in the heart can be a sign of other heart problems. Of the people with multiple lentigines syndrome who have heart problems, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. The hypertrophic cardiomyopathy in affected individuals most often affects the lower left chamber of the heart (the left ventricle). Up to 20 percent of people with multiple lentigines syndrome who have heart problems have pulmonary stenosis. People with multiple lentigines syndrome can have a distinctive facial appearance. In addition to ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. Abnormalities of the genitalia occur most often in males with multiple lentigines syndrome. The most common abnormality in affected males is undescended testes (cryptorchidism). Other males may have a urethra that opens on the underside of the penis (hypospadias). Males with multiple lentigines syndrome may have a reduced ability to have biological children (decreased fertility). Females with multiple lentigines syndrome may have poorly developed ovaries and delayed puberty. At birth, people with multiple lentigines syndrome are typically of normal weight and height, but in some, growth slows over time. This slow growth results in short stature in 50 to 75 percent of people with multiple lentigines syndrome. Approximately 20 percent of individuals with multiple lentigines syndrome develop hearing loss. This hearing loss is caused by abnormalities in the inner ear (sensorineural deafness) and can be present from birth or develop later in life. Other signs and symptoms of multiple lentigines syndrome include learning disorders, mild developmental delay, a sunken or protruding chest, and extra folds of skin on the back of the neck. Many of the signs and symptoms of multiple lentigines syndrome also occur in a similar disorder called Noonan syndrome. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.",GHR,multiple lentigines syndrome +How many people are affected by multiple lentigines syndrome ?,Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide.,GHR,multiple lentigines syndrome +What are the genetic changes related to multiple lentigines syndrome ?,"Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. A small proportion of people with multiple lentigines syndrome do not have an identified mutation in any of these three genes. In these individuals, the cause of the condition is unknown. The PTPN11, RAF1, and BRAF genes all provide instructions for making proteins that are involved in important signaling pathways needed for the proper formation of several types of tissue during development. These proteins also play roles in the regulation of cell division, cell movement (migration), and cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the PTPN11, RAF1, or BRAF genes lead to the production of a protein that functions abnormally. This abnormal functioning impairs the protein's ability to respond to cell signals. A disruption in the regulation of systems that control cell growth and division leads to the characteristic features of multiple lentigines syndrome.",GHR,multiple lentigines syndrome +Is multiple lentigines syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,multiple lentigines syndrome +What are the treatments for multiple lentigines syndrome ?,These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testing Registry: LEOPARD syndrome 3 - Genetic Testing Registry: Noonan syndrome with multiple lentigines - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple lentigines syndrome +What is (are) sickle cell disease ?,"Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.",GHR,sickle cell disease +How many people are affected by sickle cell disease ?,"Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans.",GHR,sickle cell disease +What are the genetic changes related to sickle cell disease ?,"Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in an unusually low level of beta-globin; this abnormality is called beta thalassemia. In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin. In other types of sickle cell disease, just one beta-globin subunit in hemoglobin is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta-globin. If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal) disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.",GHR,sickle cell disease +Is sickle cell disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sickle cell disease +What are the treatments for sickle cell disease ?,"These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (UK) - Howard University Hospital Center for Sickle Cell Disease - MedlinePlus Encyclopedia: Sickle Cell Anemia - MedlinePlus Encyclopedia: Sickle Cell Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sickle cell disease +What is (are) beta-mannosidosis ?,"Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).",GHR,beta-mannosidosis +How many people are affected by beta-mannosidosis ?,"Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.",GHR,beta-mannosidosis +What are the genetic changes related to beta-mannosidosis ?,"Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose. Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.",GHR,beta-mannosidosis +Is beta-mannosidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,beta-mannosidosis +What are the treatments for beta-mannosidosis ?,These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,beta-mannosidosis +What is (are) hyperphosphatemic familial tumoral calcinosis ?,"Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time. Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems. A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.",GHR,hyperphosphatemic familial tumoral calcinosis +How many people are affected by hyperphosphatemic familial tumoral calcinosis ?,"The prevalence of HFTC is unknown, but it is thought to be a rare condition. It occurs most often in Middle Eastern and African populations.",GHR,hyperphosphatemic familial tumoral calcinosis +What are the genetic changes related to hyperphosphatemic familial tumoral calcinosis ?,"Mutations in the FGF23, GALNT3, or KL gene cause HFTC. The proteins produced from these genes are all involved in the regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed. The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells and signals the kidneys to stop reabsorbing phosphate. The proteins produced from the GALNT3 and KL genes help to regulate fibroblast growth factor 23. The protein produced from the GALNT3 gene, called ppGalNacT3, attaches sugar molecules to fibroblast growth factor 23 in a process called glycosylation. Glycosylation allows fibroblast growth factor 23 to move out of the cell and protects the protein from being broken down. Once outside the bone cell, fibroblast growth factor 23 must attach (bind) to a receptor protein that spans the membrane of kidney cells. The protein produced from the KL gene, called alpha-klotho, turns on (activates) the receptor protein so that fibroblast growth factor 23 can bind to it. Binding of fibroblast growth factor 23 to its receptor stimulates signaling that stops phosphate reabsorption into the bloodstream. Mutations in the FGF23, GALNT3, or KL gene lead to a disruption in fibroblast growth factor 23 signaling. FGF23 gene mutations result in the production of a protein with decreased function that quickly gets broken down. Mutations in the GALNT3 gene result in the production of ppGalNacT3 protein with little or no function. As a result, the protein cannot glycosylate fibroblast growth factor 23, which is consequently trapped inside the cell and broken down rather than being released from the cell (secreted). KL gene mutations lead to a shortage of functional alpha-klotho. As a result, the receptor protein is not activated, causing it to be unavailable to be bound to fibroblast growth factor 23. All of these impairments to fibroblast growth factor 23 function and signaling lead to increased phosphate absorption by the kidneys. Calcinosis results when the excess phosphate combines with calcium to form deposits that build up in soft tissues. Although phosphate levels are increased, calcium is typically within the normal range.",GHR,hyperphosphatemic familial tumoral calcinosis +Is hyperphosphatemic familial tumoral calcinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hyperphosphatemic familial tumoral calcinosis +What are the treatments for hyperphosphatemic familial tumoral calcinosis ?,"These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hyperphosphatemic familial tumoral calcinosis +What is (are) pulmonary alveolar microlithiasis ?,"Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths. Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the disorder is discovered before symptoms develop, when medical imaging is done for other reasons. The condition typically worsens slowly over many years, although some affected individuals have signs and symptoms that remain stable for long periods of time. People with pulmonary alveolar microlithiasis can also develop calcium phosphate deposits in other organs and tissues of the body, including the kidneys, gallbladder, testes, and the valve that connects a large blood vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related to accumulation of these deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow.",GHR,pulmonary alveolar microlithiasis +How many people are affected by pulmonary alveolar microlithiasis ?,"Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. About 600 affected individuals have been described in the medical literature, of whom about a quarter are of Turkish descent. The remainder come from populations worldwide.",GHR,pulmonary alveolar microlithiasis +What are the genetic changes related to pulmonary alveolar microlithiasis ?,"Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs and tissues in the body, it is located mainly in the lungs, specifically in cells in the alveoli called alveolar type II cells. These cells produce and recycle surfactant, which is a mixture of certain phosphate-containing fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. The recycling of surfactant releases phosphate into the alveoli. Research suggests that the type IIb sodium-phosphate cotransporter normally helps clear this phosphate. SLC34A2 gene mutations are thought to impair the activity of the type IIb sodium-phosphate cotransporter, resulting in the accumulation of phosphate in the alveoli. The accumulated phosphate forms the microliths that cause the signs and symptoms of pulmonary alveolar microlithiasis.",GHR,pulmonary alveolar microlithiasis +Is pulmonary alveolar microlithiasis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pulmonary alveolar microlithiasis +What are the treatments for pulmonary alveolar microlithiasis ?,These resources address the diagnosis or management of pulmonary alveolar microlithiasis: - Genetic Testing Registry: Pulmonary alveolar microlithiasis - MedlinePlus Health Topic: Oxygen Therapy - MedlinePlus Health Topic: Pulmonary Rehabilitation - National Jewish Health: Interstitial Lung Disease - Rare Diseases Clinical Research Network: Rare Lung Disease Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pulmonary alveolar microlithiasis +What is (are) Caffey disease ?,"Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound imaging during the last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to be a separate disorder. For unknown reasons, the swelling and pain associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2. However, if two adjacent bones have fused, they may remain that way, possibly resulting in complications. For example, fused rib bones can lead to curvature of the spine (scoliosis) or limit expansion of the chest, resulting in breathing problems. Most people with Caffey disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout the body. Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles (hernias).",GHR,Caffey disease +How many people are affected by Caffey disease ?,"Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.",GHR,Caffey disease +What are the genetic changes related to Caffey disease ?,"A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. In these tissues, type I collagen is found in the spaces around cells. The collagen molecules are cross-linked in long, thin, fibrils that are very strong and flexible. Type I collagen is the most abundant form of collagen in the human body. The COL1A1 gene mutation that causes Caffey disease replaces the protein building block (amino acid) arginine with the amino acid cysteine at protein position 836 (written as Arg836Cys or R836C). This mutation results in the production of type I collagen fibrils that are variable in size and shape, but it is unknown how these changes lead to the signs and symptoms of Caffey disease.",GHR,Caffey disease +Is Caffey disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance. In some cases, an affected person inherits the mutation that causes Caffey disease from a parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Caffey disease +What are the treatments for Caffey disease ?,These resources address the diagnosis or management of Caffey disease: - Cedars-Sinai: Skeletal Dysplasia - Gene Review: Gene Review: Caffey Disease - Genetic Testing Registry: Infantile cortical hyperostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Caffey disease +What is (are) acatalasemia ?,"Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene. Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes mellitus, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes mellitus than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.",GHR,acatalasemia +How many people are affected by acatalasemia ?,"More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown.",GHR,acatalasemia +What are the genetic changes related to acatalasemia ?,"Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes. Mutations in the CAT gene greatly reduce the activity of catalase. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene. A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called insulin that helps control blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes mellitus in people with acatalasemia. It is unclear why some people have no health problems associated with a loss of catalase activity. Many people with reduced catalase activity do not have an identified mutation in the CAT gene; in these cases, the cause of the condition is unknown. Researchers believe that other genetic and environmental factors can also influence the activity of catalase.",GHR,acatalasemia +Is acatalasemia inherited ?,"Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal. When only one of the two copies of the CAT gene has a mutation, the activity of catalase is reduced by approximately half. This reduction in catalase activity is often called hypocatalasemia. Like acatalasemia, hypocatalasemia usually does not cause any health problems.",GHR,acatalasemia +What are the treatments for acatalasemia ?,"These resources address the diagnosis or management of acatalasemia: - Genetic Testing Registry: Acatalasemia - Genetic Testing Registry: Acatalasemia, japanese type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,acatalasemia +What is (are) ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ?,"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. Among the most common features of AEC syndrome are missing patches of skin (erosions). In affected infants, skin erosions most commonly occur on the scalp. They tend to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. The skin erosions range from mild to severe and can lead to infection, scarring, and hair loss. Other ectodermal abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. Affected individuals also report increased sensitivity to heat and a reduced ability to sweat. Many infants with AEC syndrome are born with an eyelid condition known as ankyloblepharon filiforme adnatum, in which strands of tissue partially or completely fuse the upper and lower eyelids. Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult for affected infants to suck, so these infants often have trouble feeding and do not grow and gain weight at the expected rate (failure to thrive). Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less often, affected individuals have permanently bent fingers and toes (camptodactyly) or a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). Hearing loss is common, occurring in more than 90 percent of children with AEC syndrome. Some affected individuals have distinctive facial features, such as small jaws that cannot open fully and a narrow space between the upper lip and nose (philtrum). Other signs and symptoms can include the opening of the urethra on the underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic sinus or ear infections. A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of AEC syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.",GHR,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +How many people are affected by ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ?,"AEC syndrome is a rare condition; its prevalence is unknown. All forms of ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United States.",GHR,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +What are the genetic changes related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ?,"AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. The p63 protein turns many different genes on and off during development. It appears to be especially critical for the development of ectodermal structures, such as the skin, hair, teeth, and nails. Studies suggest that it also plays important roles in the development of the limbs, facial features, urinary system, and other organs and tissues. The TP63 gene mutations responsible for AEC syndrome interfere with the ability of p63 to turn target genes on and off at the right times. It is unclear how these changes lead to abnormal ectodermal development and the specific features of AEC syndrome.",GHR,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +Is ankyloblepharon-ectodermal defects-cleft lip/palate syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +What are the treatments for ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ?,These resources address the diagnosis or management of AEC syndrome: - Gene Review: Gene Review: TP63-Related Disorders - Genetic Testing Registry: Hay-Wells syndrome of ectodermal dysplasia - Genetic Testing Registry: Rapp-Hodgkin ectodermal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +What is (are) Blau syndrome ?,"Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.",GHR,Blau syndrome +How many people are affected by Blau syndrome ?,"Although Blau syndrome appears to be uncommon, its prevalence is unknown.",GHR,Blau syndrome +What are the genetic changes related to Blau syndrome ?,"Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.",GHR,Blau syndrome +Is Blau syndrome inherited ?,"Blau syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals have one parent with the condition. In some cases, people with the characteristic features of Blau syndrome do not have a family history of the condition. Some researchers believe that these individuals have a non-inherited version of the disorder called early-onset sarcoidosis.",GHR,Blau syndrome +What are the treatments for Blau syndrome ?,"These resources address the diagnosis or management of Blau syndrome: - Genetic Testing Registry: Blau syndrome - Genetic Testing Registry: Sarcoidosis, early-onset - Merck Manual Consumer Version: Overview of Dermatitis - Merck Manual Consumer Version: Uveitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Blau syndrome +What is (are) Pallister-Hall syndrome ?,"Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.",GHR,Pallister-Hall syndrome +How many people are affected by Pallister-Hall syndrome ?,This condition is very rare; its prevalence is unknown.,GHR,Pallister-Hall syndrome +What are the genetic changes related to Pallister-Hall syndrome ?,"Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Mutations that cause Pallister-Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein. Unlike the normal GLI3 protein, which can turn target genes on or off, the short protein can only turn off (repress) target genes. Researchers are working to determine how this change in the protein's function affects early development. It remains uncertain how GLI3 mutations can cause polydactyly, hypothalamic hamartoma, and the other features of Pallister-Hall syndrome.",GHR,Pallister-Hall syndrome +Is Pallister-Hall syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Pallister-Hall syndrome +What are the treatments for Pallister-Hall syndrome ?,These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclopedia: Imperforate Anus - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pallister-Hall syndrome +What is (are) persistent Mllerian duct syndrome ?,"Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mllerian duct during development of the fetus. The Mllerian duct usually breaks down during early development in males, but it is retained in those with persistent Mllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia. The first noted signs and symptoms in males with persistent Mllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions. The testes and female reproductive organs can be located in unusual positions in persistent Mllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Mllerian duct syndrome. Other effects of persistent Mllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.",GHR,persistent Mllerian duct syndrome +How many people are affected by persistent Mllerian duct syndrome ?,"Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.",GHR,persistent Mllerian duct syndrome +What are the genetic changes related to persistent Mllerian duct syndrome ?,"Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2. The AMH protein and AMH receptor type 2 protein are involved in male sex differentiation. All fetuses develop the Mllerian duct, the precursor to female reproductive organs. During development of a male fetus, these two proteins work together to induce breakdown (regression) of the Mllerian duct. Mutations in the AMH and AMHR2 genes lead to nonfunctional proteins that cannot signal for regression of the Mllerian duct. As a result of these mutations, the Mllerian duct persists and goes on to form a uterus and fallopian tubes. Approximately 45 percent of cases of persistent Mllerian duct syndrome are caused by mutations in the AMH gene and are called persistent Mllerian duct syndrome type 1. Approximately 40 percent of cases are caused by mutations in the AMHR2 gene and are called persistent Mllerian duct syndrome type 2. In the remaining 15 percent of cases, no mutations in the AMH and AMHR2 genes have been identified, and the genes involved in causing the condition are unknown.",GHR,persistent Mllerian duct syndrome +Is persistent Mllerian duct syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.",GHR,persistent Mllerian duct syndrome +What are the treatments for persistent Mllerian duct syndrome ?,These resources address the diagnosis or management of persistent Mllerian duct syndrome: - Genetic Testing Registry: Persistent Mullerian duct syndrome - MedlinePlus Encyclopedia: Undescended testicle repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,persistent Mllerian duct syndrome +What is (are) ALG1-congenital disorder of glycosylation ?,"ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be difficult to treat. Individuals with ALG1-CDG may also have movement problems such as involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia). People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by foreign particles and germs. A reduction in antibodies can make it difficult for affected individuals to fight infections. Some people with ALG1-CDG have physical abnormalities such as a small head size (microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye problems that may occur in people with this condition include eyes that do not point in the same direction (strabismus) or involuntary eye movements (nystagmus). Rarely, affected individuals develop vision loss. Less common abnormalities that occur in people with ALG1-CDG include respiratory problems, reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties. The signs and symptoms of ALG1-CDG are often severe, with affected individuals surviving only into infancy or childhood. However, some people with this condition are more mildly affected and survive into adulthood.",GHR,ALG1-congenital disorder of glycosylation +How many people are affected by ALG1-congenital disorder of glycosylation ?,ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature.,GHR,ALG1-congenital disorder of glycosylation +What are the genetic changes related to ALG1-congenital disorder of glycosylation ?,"Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG1 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid. ALG1 gene mutations lead to the production of an abnormal enzyme with reduced activity. The poorly functioning enzyme cannot add mannose to sugar chains efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. The wide variety of signs and symptoms in ALG1-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues.",GHR,ALG1-congenital disorder of glycosylation +Is ALG1-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ALG1-congenital disorder of glycosylation +What are the treatments for ALG1-congenital disorder of glycosylation ?,These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ALG1-congenital disorder of glycosylation +What is (are) congenital hypothyroidism ?,"Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism. Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally. Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.",GHR,congenital hypothyroidism +How many people are affected by congenital hypothyroidism ?,"Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 newborns. For reasons that remain unclear, congenital hypothyroidism affects more than twice as many females as males.",GHR,congenital hypothyroidism +What are the genetic changes related to congenital hypothyroidism ?,"Congenital hypothyroidism can be caused by a variety of factors, only some of which are genetic. The most common cause worldwide is a shortage of iodine in the diet of the mother and the affected infant. Iodine is essential for the production of thyroid hormones. Genetic causes account for about 15 to 20 percent of cases of congenital hypothyroidism. The cause of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. Studies suggest that 2 to 5 percent of cases are inherited. Two of the genes involved in this form of the condition are PAX8 and TSHR. These genes play roles in the proper growth and development of the thyroid gland. Mutations in these genes prevent or disrupt normal development of the gland. The abnormal or missing gland cannot produce normal amounts of thyroid hormones. Thyroid dyshormonogenesis results from mutations in one of several genes involved in the production of thyroid hormones. These genes include DUOX2, SLC5A5, TG, and TPO. Mutations in each of these genes disrupt a step in thyroid hormone synthesis, leading to abnormally low levels of these hormones. Mutations in the TSHB gene disrupt the synthesis of thyroid hormones by impairing the stimulation of hormone production. Changes in this gene are the primary cause of central hypothyroidism. The resulting shortage of thyroid hormones disrupts normal growth, brain development, and metabolism, leading to the features of congenital hypothyroidism. Mutations in other genes that have not been as well characterized can also cause congenital hypothyroidism. Still other genes are involved in syndromic forms of the disorder.",GHR,congenital hypothyroidism +Is congenital hypothyroidism inherited ?,"Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. When congenital hypothyroidism results from mutations in the PAX8 gene or from certain mutations in the TSHR or DUOX2 gene, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GHR,congenital hypothyroidism +What are the treatments for congenital hypothyroidism ?,"These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia: Congenital Hypothyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital hypothyroidism +What is (are) Donohue syndrome ?,"Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body. Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features that become apparent soon after birth include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop recurrent, life-threatening infections beginning in infancy. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome represents the most severe end of the spectrum; most children with this condition do not survive beyond age 2.",GHR,Donohue syndrome +How many people are affected by Donohue syndrome ?,Donohue syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.,GHR,Donohue syndrome +What are the genetic changes related to Donohue syndrome ?,"Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. The INSR gene mutations that cause Donohue syndrome greatly reduce the number of insulin receptors that reach the cell membrane or disrupt the function of these receptors. Although insulin is present in the bloodstream, without functional receptors it cannot exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and affects many aspects of development in people with Donohue syndrome.",GHR,Donohue syndrome +Is Donohue syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Donohue syndrome +What are the treatments for Donohue syndrome ?,These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Donohue syndrome +What is (are) hyperprolinemia ?,"Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder has signs and symptoms that vary in severity, and is more likely than type I to involve seizures or intellectual disability. Hyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of lactic acid in the blood (lactic acidemia) may have hyperprolinemia as well, because lactic acid inhibits the breakdown of proline.",GHR,hyperprolinemia +How many people are affected by hyperprolinemia ?,It is difficult to determine the prevalence of hyperprolinemia type I because most people with the condition do not have any symptoms. Hyperprolinemia type II is a rare condition; its prevalence is also unknown.,GHR,hyperprolinemia +What are the genetic changes related to hyperprolinemia ?,"Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Inherited hyperprolinemia is caused by deficiencies in the enzymes that break down (degrade) proline. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which provides instructions for producing the enzyme proline oxidase. This enzyme begins the process of degrading proline by starting the reaction that converts it to pyrroline-5-carboxylate. Hyperprolinemia type II is caused by a mutation in the ALDH4A1 gene, which provides instructions for producing the enzyme pyrroline-5-carboxylate dehydrogenase. This enzyme helps to break down the pyrroline-5-carboxylate produced in the previous reaction, converting it to the amino acid glutamate. The conversion between proline and glutamate, and the reverse reaction controlled by different enzymes, are important in maintaining a supply of the amino acids needed for protein production, and for energy transfer within the cell. A deficiency of either proline oxidase or pyrroline-5-carboxylate dehydrogenase results in a buildup of proline in the body. A deficiency of the latter enzyme leads to higher levels of proline and a buildup of the intermediate breakdown product pyrroline-5-carboxylate, causing the signs and symptoms of hyperprolinemia type II.",GHR,hyperprolinemia +Is hyperprolinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In about one-third of cases, individuals carrying one copy of an altered PRODH gene have moderately elevated levels of proline in their blood, but these levels do not cause any health problems. Individuals with one altered ALDH4A1 gene have normal levels of proline in their blood.",GHR,hyperprolinemia +What are the treatments for hyperprolinemia ?,These resources address the diagnosis or management of hyperprolinemia: - Baby's First Test - Genetic Testing Registry: Deficiency of pyrroline-5-carboxylate reductase - Genetic Testing Registry: Proline dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hyperprolinemia +What is (are) triple A syndrome ?,"Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two. Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.",GHR,triple A syndrome +How many people are affected by triple A syndrome ?,"Triple A syndrome is a rare condition, although its exact prevalence is unknown.",GHR,triple A syndrome +What are the genetic changes related to triple A syndrome ?,"Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus. Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN in the nuclear envelope likely disrupts the movement of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene. The genetic cause of the disorder is unknown in these individuals.",GHR,triple A syndrome +Is triple A syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,triple A syndrome +What are the treatments for triple A syndrome ?,These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,triple A syndrome +What is (are) atypical hemolytic-uremic syndrome ?,"Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. This condition can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding. As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively. Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.",GHR,atypical hemolytic-uremic syndrome +How many people are affected by atypical hemolytic-uremic syndrome ?,"The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in 500,000 people per year in the United States. The atypical form is probably about 10 times less common than the typical form.",GHR,atypical hemolytic-uremic syndrome +What are the genetic changes related to atypical hemolytic-uremic syndrome ?,"Atypical hemolytic-uremic syndrome often results from a combination of environmental and genetic factors. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common; they have been found in about 30 percent of all cases of atypical hemolytic-uremic syndrome. Mutations in the other genes have each been identified in a smaller percentage of cases. The genes associated with atypical hemolytic-uremic syndrome provide instructions for making proteins involved in a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. The complement system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. The regulatory proteins associated with atypical hemolytic-uremic syndrome protect healthy cells by preventing activation of the complement system when it is not needed. Mutations in the genes associated with atypical hemolytic-uremic syndrome lead to uncontrolled activation of the complement system. The overactive system attacks cells that line blood vessels in the kidneys, causing inflammation and the formation of abnormal clots. These abnormalities lead to kidney damage and, in many cases, kidney failure and ESRD. Although gene mutations increase the risk of atypical hemolytic-uremic syndrome, studies suggest that they are often not sufficient to cause the disease. In people with certain genetic changes, the signs and symptoms of the disorder may be triggered by factors including certain medications (such as anticancer drugs), chronic diseases, viral or bacterial infections, cancers, organ transplantation, or pregnancy. Some people with atypical hemolytic-uremic syndrome do not have any known genetic changes or environmental triggers for the disease. In these cases, the disorder is described as idiopathic.",GHR,atypical hemolytic-uremic syndrome +Is atypical hemolytic-uremic syndrome inherited ?,"Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to increase the risk of the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most people with the autosomal dominant form of atypical hemolytic-uremic syndrome have no history of the disorder in their family. Because not everyone who inherits a gene mutation will develop the signs and symptoms of the disease, an affected individual may have unaffected relatives who carry a copy of the mutation. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,atypical hemolytic-uremic syndrome +What are the treatments for atypical hemolytic-uremic syndrome ?,These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 2 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 3 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 4 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 5 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 6 - MedlinePlus Encyclopedia: Hemolytic Anemia - MedlinePlus Encyclopedia: Hemolytic-Uremic Syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,atypical hemolytic-uremic syndrome +What is (are) hereditary folate malabsorption ?,"Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA. Infants with hereditary folate malabsorption are born with normal amounts of folates in their body because they obtain these vitamins from their mother's blood before birth. They generally begin to show signs and symptoms of the disorder within the first few months of life because their ability to absorb folates from food is impaired. Infants with hereditary folate malabsorption experience feeding difficulties, diarrhea, and failure to gain weight and grow at the expected rate (failure to thrive). Affected individuals usually develop a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet. People with hereditary folate malabsorption may also have a deficiency of white blood cells (leukopenia), leading to increased susceptibility to infections. In addition, they may have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. Some infants with hereditary folate malabsorption exhibit neurological problems such as developmental delay and seizures. Over time, untreated individuals may develop intellectual disability and difficulty coordinating movements (ataxia).",GHR,hereditary folate malabsorption +How many people are affected by hereditary folate malabsorption ?,"The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available.",GHR,hereditary folate malabsorption +What are the genetic changes related to hereditary folate malabsorption ?,"The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move folates across the brush border membrane, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption.",GHR,hereditary folate malabsorption +Is hereditary folate malabsorption inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary folate malabsorption +What are the treatments for hereditary folate malabsorption ?,These resources address the diagnosis or management of hereditary folate malabsorption: - Gene Review: Gene Review: Hereditary Folate Malabsorption - Genetic Testing Registry: Congenital defect of folate absorption - MedlinePlus Encyclopedia: Folate - MedlinePlus Encyclopedia: Folate Deficiency - MedlinePlus Encyclopedia: Folate-Deficiency Anemia - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary folate malabsorption +What is (are) laryngo-onycho-cutaneous syndrome ?,"Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury. One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood. In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth. Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities. LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.",GHR,laryngo-onycho-cutaneous syndrome +How many people are affected by laryngo-onycho-cutaneous syndrome ?,"LOC syndrome is a rare disorder that primarily affects families of Punjabi background from India and Pakistan, although the condition has also been reported in one family from Iran.",GHR,laryngo-onycho-cutaneous syndrome +What are the genetic changes related to laryngo-onycho-cutaneous syndrome ?,"LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced from other genes. The laminin 332 protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Studies suggest that laminin 332 is also involved in wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel. The mutations involved in LOC syndrome alter the structure of one version of the alpha subunit of laminin 332 (called alpha-3a). Laminins made with the altered subunit cannot effectively attach the epidermis to underlying layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and overgrowth of granulation tissue that are characteristic of LOC syndrome. The inability of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur in this condition.",GHR,laryngo-onycho-cutaneous syndrome +Is laryngo-onycho-cutaneous syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,laryngo-onycho-cutaneous syndrome +What are the treatments for laryngo-onycho-cutaneous syndrome ?,These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,laryngo-onycho-cutaneous syndrome +What is (are) gastrointestinal stromal tumor ?,"A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign). Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding into the intestinal tract may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood. Affected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched.",GHR,gastrointestinal stromal tumor +How many people are affected by gastrointestinal stromal tumor ?,"Approximately 5,000 new cases of GIST are diagnosed in the United States each year. However, GISTs may be more common than this estimate because small tumors may remain undiagnosed.",GHR,gastrointestinal stromal tumor +What are the genetic changes related to gastrointestinal stromal tumor ?,"Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic GISTs. A small number of affected individuals have mutations in other genes. The KIT and PDGFRA genes provide instructions for making receptor proteins that are found in the cell membrane of certain cell types and stimulate signaling pathways inside the cell. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the KIT or PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and survival. Mutations in the KIT and PDGFRA genes lead to proteins that no longer require ligand binding to be activated. As a result, the proteins and the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When these mutations occur in ICCs or their precursors, the uncontrolled cell growth leads to GIST formation.",GHR,gastrointestinal stromal tumor +Is gastrointestinal stromal tumor inherited ?,"Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing tumors. When familial GIST is associated with mutations in other genes, it can have an autosomal recessive pattern of inheritance, which means alterations in both copies of the gene in each cell increase a person's chance of developing tumors.",GHR,gastrointestinal stromal tumor +What are the treatments for gastrointestinal stromal tumor ?,These resources address the diagnosis or management of gastrointestinal stromal tumor: - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST) - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis - Genetic Testing Registry: Gastrointestinal stromal tumor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,gastrointestinal stromal tumor +What is (are) spastic paraplegia type 31 ?,"Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported. The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support.",GHR,spastic paraplegia type 31 +How many people are affected by spastic paraplegia type 31 ?,"Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases.",GHR,spastic paraplegia type 31 +What are the genetic changes related to spastic paraplegia type 31 ?,"Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport. The REEP1 protein plays a role in regulating the size of the endoplasmic reticulum and determining how many proteins it can process. The function of the REEP1 protein in the mitochondria is unknown. REEP1 gene mutations that cause spastic paraplegia type 31 result in a short, nonfunctional protein that is usually broken down quickly. As a result, there is a reduction in functional REEP1 protein. It is unclear how REEP1 gene mutations lead to the signs and symptoms of spastic paraplegia type 31. Researchers have shown that mitochondria in cells of affected individuals are less able to produce energy, which may contribute to the death of neurons and lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown.",GHR,spastic paraplegia type 31 +Is spastic paraplegia type 31 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,spastic paraplegia type 31 +What are the treatments for spastic paraplegia type 31 ?,"These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 31 +What is (are) dentinogenesis imperfecta ?,"Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.",GHR,dentinogenesis imperfecta +How many people are affected by dentinogenesis imperfecta ?,"Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people.",GHR,dentinogenesis imperfecta +What are the genetic changes related to dentinogenesis imperfecta ?,"Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes). The DSPP gene provides instructions for making two proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP gene mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II.",GHR,dentinogenesis imperfecta +Is dentinogenesis imperfecta inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,dentinogenesis imperfecta +What are the treatments for dentinogenesis imperfecta ?,These resources address the diagnosis or management of dentinogenesis imperfecta: - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III - MedlinePlus Encyclopedia: Tooth - abnormal colors These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dentinogenesis imperfecta +What is (are) neutral lipid storage disease with myopathy ?,"Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.",GHR,neutral lipid storage disease with myopathy +How many people are affected by neutral lipid storage disease with myopathy ?,Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.,GHR,neutral lipid storage disease with myopathy +What are the genetic changes related to neutral lipid storage disease with myopathy ?,"Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.",GHR,neutral lipid storage disease with myopathy +Is neutral lipid storage disease with myopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,neutral lipid storage disease with myopathy +What are the treatments for neutral lipid storage disease with myopathy ?,These resources address the diagnosis or management of neutral lipid storage disease with myopathy: - Genetic Testing Registry: Neutral lipid storage disease with myopathy - MedlinePlus Encyclopedia: Hypothyroidism - MedlinePlus Encyclopedia: Type 2 Diabetes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,neutral lipid storage disease with myopathy +What is (are) congenital dyserythropoietic anemia ?,"Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications. Researchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms. CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis. The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Several other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA.",GHR,congenital dyserythropoietic anemia +How many people are affected by congenital dyserythropoietic anemia ?,"Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA type I is unknown. Because CDA is so rare and its signs and symptoms overlap with those of other disorders, many cases likely remain undiagnosed or are incorrectly diagnosed as other disorders.",GHR,congenital dyserythropoietic anemia +What are the genetic changes related to congenital dyserythropoietic anemia ?,"CDA type I usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations in at least one other gene can also cause this form of the disorder. CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. The genetic cause of CDA type III has not been identified. It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition. The genetic changes responsible for CDA disrupt the normal development of red blood cells, a process called erythropoiesis. The term ""dyserythropoietic"" in the name of this condition means abnormal red blood cell formation. In people with CDA, immature red blood cells called erythroblasts are unusually shaped and have other abnormalities (such as extra nuclei). These abnormal erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including hepatosplenomegaly and an abnormal buildup of iron.",GHR,congenital dyserythropoietic anemia +Is congenital dyserythropoietic anemia inherited ?,"The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In several families, CDA type III appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these families, affected individuals often have a parent and other relatives with the condition.",GHR,congenital dyserythropoietic anemia +What are the treatments for congenital dyserythropoietic anemia ?,"These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III - MedlinePlus Encyclopedia: Ham Test - MedlinePlus Encyclopedia: Hepatomegaly - MedlinePlus Encyclopedia: Jaundice - MedlinePlus Encyclopedia: Splenomegaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital dyserythropoietic anemia +"What is (are) multicentric osteolysis, nodulosis, and arthropathy ?","Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene. In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as ""coarse.""",GHR,"multicentric osteolysis, nodulosis, and arthropathy" +"How many people are affected by multicentric osteolysis, nodulosis, and arthropathy ?",MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide.,GHR,"multicentric osteolysis, nodulosis, and arthropathy" +"What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ?","MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it. The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown.",GHR,"multicentric osteolysis, nodulosis, and arthropathy" +"Is multicentric osteolysis, nodulosis, and arthropathy inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"multicentric osteolysis, nodulosis, and arthropathy" +"What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ?","These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"multicentric osteolysis, nodulosis, and arthropathy" +What is (are) very long-chain acyl-CoA dehydrogenase deficiency ?,"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Problems related to VLCAD deficiency can be triggered by periods of fasting, illness, and exercise. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,very long-chain acyl-CoA dehydrogenase deficiency +How many people are affected by very long-chain acyl-CoA dehydrogenase deficiency ?,"VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people.",GHR,very long-chain acyl-CoA dehydrogenase deficiency +What are the genetic changes related to very long-chain acyl-CoA dehydrogenase deficiency ?,"Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADVL gene lead to a shortage (deficiency) of the VLCAD enzyme within cells. Without sufficient amounts of this enzyme, very long-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Very long-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the heart, liver, and muscles. This abnormal buildup causes the other signs and symptoms of VLCAD deficiency.",GHR,very long-chain acyl-CoA dehydrogenase deficiency +Is very long-chain acyl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,very long-chain acyl-CoA dehydrogenase deficiency +What are the treatments for very long-chain acyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of VLCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Very long chain acyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,very long-chain acyl-CoA dehydrogenase deficiency +What is (are) inclusion body myopathy 2 ?,"Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh. This condition also does not affect muscles of the eye or heart, and it does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. People with the characteristic features of inclusion body myopathy 2 have been described in several different populations. When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by mutations in the same gene.",GHR,inclusion body myopathy 2 +How many people are affected by inclusion body myopathy 2 ?,"More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been found in several other ethnic groups worldwide.",GHR,inclusion body myopathy 2 +What are the genetic changes related to inclusion body myopathy 2 ?,"Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attaching cells to one another (adhesion), signaling between cells, and inflammation. The mutations responsible for inclusion body myopathy 2 reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. As a result, less of this simple sugar is available to attach to cell surface molecules. Researchers are working to determine how a shortage of sialic acid leads to progressive muscle weakness in people with inclusion body myopathy 2. Sialic acid is important for the normal function of many different cells and tissues, so it is unclear why the signs and symptoms of this disorder appear to be limited to the skeletal muscles.",GHR,inclusion body myopathy 2 +Is inclusion body myopathy 2 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,inclusion body myopathy 2 +What are the treatments for inclusion body myopathy 2 ?,These resources address the diagnosis or management of inclusion body myopathy 2: - Gene Review: Gene Review: GNE-Related Myopathy - Genetic Testing Registry: Inclusion body myopathy 2 - Genetic Testing Registry: Nonaka myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,inclusion body myopathy 2 +What is (are) eosinophil peroxidase deficiency ?,"Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response. Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.",GHR,eosinophil peroxidase deficiency +How many people are affected by eosinophil peroxidase deficiency ?,"Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people.",GHR,eosinophil peroxidase deficiency +What are the genetic changes related to eosinophil peroxidase deficiency ?,"Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and parasites. These toxic molecules also play a role in regulating inflammation by fighting microbial invaders. EPX gene mutations reduce or prevent eosinophil peroxidase production or result in a protein that is unstable and nonfunctional. As a result, eosinophils have severely reduced amounts of eosinophil peroxidase or none at all. Other proteins within affected eosinophils are normal, and while the cells lacking eosinophil peroxidase are smaller and may have structural changes, the loss of eosinophil peroxidase does not appear to impair the function of eosinophils.",GHR,eosinophil peroxidase deficiency +Is eosinophil peroxidase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,eosinophil peroxidase deficiency +What are the treatments for eosinophil peroxidase deficiency ?,These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,eosinophil peroxidase deficiency +What is (are) mannose-binding lectin deficiency ?,"Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity. Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections.",GHR,mannose-binding lectin deficiency +How many people are affected by mannose-binding lectin deficiency ?,"Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans.",GHR,mannose-binding lectin deficiency +What are the genetic changes related to mannose-binding lectin deficiency ?,"Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each composed of three of the protein pieces (subunits) produced from the MBL2 gene. Mannose-binding lectin plays an important role in the body's immune response by attaching to foreign invaders such as bacteria, viruses, or yeast and turning on (activating) the complement system. The complement system is a group of immune system proteins that work together to destroy foreign invaders (pathogens), trigger inflammation, and remove debris from cells and tissues. Mannose-binding lectin can also stimulate special immune cells to engulf and break down the attached pathogen. Disease-associated mutations in the MBL2 gene can reduce the production of the mannose-binding lectin subunit or eliminate the subunit's ability to assemble into functional mannose-binding lectin. A decrease in the availability of the normal subunit protein may lead to a reduction of the functional mannose-binding lectin in blood. With decreased levels of mannose-binding lectin, the body does not recognize and fight foreign invaders efficiently. Consequently, infections can be more common in people with this condition. However, not everyone with a change in the MBL2 gene has decreased levels of mannose-binding lectin, and not everyone with decreased protein levels is prone to infection. Researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency and susceptibility to infection.",GHR,mannose-binding lectin deficiency +Is mannose-binding lectin deficiency inherited ?,"The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people inherit an increased risk of developing mannose-binding lectin deficiency, not the condition itself. Not all people who inherit mutations in this gene will develop the condition.",GHR,mannose-binding lectin deficiency +What are the treatments for mannose-binding lectin deficiency ?,These resources address the diagnosis or management of mannose-binding lectin deficiency: - Genetic Testing Registry: Mannose-binding protein deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mannose-binding lectin deficiency +What is (are) keratoderma with woolly hair ?,"Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused. Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death. Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.",GHR,keratoderma with woolly hair +How many people are affected by keratoderma with woolly hair ?,"Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 people from the Greek islands. Type II (Carvajal syndrome), type III, and type IV have each been identified in only a small number of families worldwide.",GHR,keratoderma with woolly hair +What are the genetic changes related to keratoderma with woolly hair ?,"Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin and heart muscle cells. Desmosomes help attach cells to one another, which provides strength and stability to tissues. They also play a role in signaling between cells. Mutations in the JUP, DSP, or DSC2 gene alter the structure and impair the function of desmosomes. Abnormal or missing desmosomes prevent cells from sticking to one another effectively, which likely makes the hair, skin, and heart muscle more fragile. Over time, as these tissues are exposed to mechanical stress (for example, friction on the surface of the skin or the constant contraction and relaxation of the heart muscle), they become damaged and can no longer function normally. This mechanism probably underlies the skin, hair, and heart problems that occur in keratoderma with woolly hair. Some studies suggest that abnormal cell signaling may also contribute to cardiomyopathy in people with this group of conditions. Unlike the other genes associated with keratoderma with woolly hair, the KANK2 gene provides instructions for making a protein that is not part of desmosomes. Instead, it regulates other proteins called steroid receptor coactivators (SRCs), whose function is to help turn on (activate) certain genes. SRCs play important roles in tissues throughout the body, including the skin. Studies suggest that mutations in the KANK2 gene disrupt the regulation of SRCs, which leads to abnormal gene activity. However, it is unclear how these changes underlie the skin and hair abnormalities in keratoderma with woolly hair type IV.",GHR,keratoderma with woolly hair +Is keratoderma with woolly hair inherited ?,"Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition.",GHR,keratoderma with woolly hair +What are the treatments for keratoderma with woolly hair ?,"These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 - Genetic Testing Registry: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis - Genetic Testing Registry: Naxos disease - Genetic Testing Registry: Palmoplantar keratoderma and woolly hair - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,keratoderma with woolly hair +What is (are) alpha-mannosidosis ?,"Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints. Affected individuals may also experience difficulty in coordinating movements (ataxia); muscle weakness (myopathy); delay in developing motor skills such as sitting and walking; speech impairments; increased risk of infections; enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye (cataract). Some people with alpha-mannosidosis experience psychiatric symptoms such as depression, anxiety, or hallucinations; episodes of psychiatric disturbance may be triggered by stressors such as having undergone surgery, emotional upset, or changes in routine. The signs and symptoms of alpha-mannosidosis can range from mild to severe. The disorder may appear in infancy with rapid progression and severe neurological deterioration. Individuals with this early-onset form of alpha-mannosidosis often do not survive past childhood. In the most severe cases, an affected fetus may die before birth. Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. People with later-onset alpha-mannosidosis may survive into their fifties. The mildest cases may be detected only through laboratory testing and result in few if any symptoms.",GHR,alpha-mannosidosis +How many people are affected by alpha-mannosidosis ?,"Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.",GHR,alpha-mannosidosis +What are the genetic changes related to alpha-mannosidosis ?,"Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause cells to malfunction and eventually die. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.",GHR,alpha-mannosidosis +Is alpha-mannosidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,alpha-mannosidosis +What are the treatments for alpha-mannosidosis ?,These resources address the diagnosis or management of alpha-mannosidosis: - Gene Review: Gene Review: Alpha-Mannosidosis - Genetic Testing Registry: Deficiency of alpha-mannosidase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alpha-mannosidosis +What is (are) warfarin resistance ?,"Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis). There are two types of warfarin resistance: incomplete and complete. Those with incomplete warfarin resistance can achieve the benefits of warfarin treatment with a high dose of warfarin. Individuals with complete warfarin resistance do not respond to warfarin treatment, no matter how high the dose. If people with warfarin resistance require treatment with warfarin and take the average dose, they will remain at risk of developing a potentially harmful blood clot. Both types of warfarin resistance are related to how the body processes warfarin. In some people with warfarin resistance, their blood clotting process does not react effectively to the drug. Others with this resistance rapidly break down (metabolize) warfarin, so the medication is quickly processed by their bodies; these individuals are classified as ""fast metabolizers"" or ""rapid metabolizers"" of warfarin. The severity of these abnormal processes determines whether the warfarin resistance is complete or incomplete. Warfarin resistance does not appear to cause any health problems other than those associated with warfarin drug treatment.",GHR,warfarin resistance +How many people are affected by warfarin resistance ?,"Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.",GHR,warfarin resistance +What are the genetic changes related to warfarin resistance ?,"Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 by binding to the complex and preventing it from binding to and activating the clotting proteins, stopping clot formation. Certain VKORC1 gene polymorphisms lead to the formation of a VKORC1 enzyme with a decreased ability to bind to warfarin. This reduction in warfarin binding causes incomplete warfarin resistance and results in more warfarin being needed to inhibit the VKORC1 enzyme and stop the clotting process. If no warfarin can bind to the VKORC1 enzyme, the result is complete warfarin resistance. While changes in specific genes affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.",GHR,warfarin resistance +Is warfarin resistance inherited ?,"The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin resistance have a higher tolerance for the drug's effect or are able to process the drug more quickly.",GHR,warfarin resistance +What are the treatments for warfarin resistance ?,These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,warfarin resistance +What is (are) X-linked sideroblastic anemia ?,"X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.",GHR,X-linked sideroblastic anemia +How many people are affected by X-linked sideroblastic anemia ?,"This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses.",GHR,X-linked sideroblastic anemia +What are the genetic changes related to X-linked sideroblastic anemia ?,"Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the hemoglobin protein) in bone marrow. ALAS2 mutations impair the activity of erythroid ALA-synthase, which disrupts normal heme production and prevents erythroblasts from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is normally incorporated into heme, the reduced production of heme leads to a buildup of excess iron in these cells. Additionally, the body attempts to compensate for the hemoglobin shortage by absorbing more iron from the diet. This buildup of excess iron damages the body's organs. Low hemoglobin levels and the resulting accumulation of iron in the body's organs lead to the characteristic features of X-linked sideroblastic anemia. People who have a mutation in another gene, HFE, along with a mutation in the ALAS2 gene may experience a more severe form of X-linked sideroblastic anemia. In this uncommon situation, the combined effect of these two mutations can lead to a more serious iron overload. Mutations in the HFE gene alone can increase the absorption of iron from the diet and result in hemochromatosis, which is another type of iron overload disorder.",GHR,X-linked sideroblastic anemia +Is X-linked sideroblastic anemia inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an ALAS2 mutation can pass on the mutated gene, but most do not develop any symptoms associated with X-linked sideroblastic anemia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.",GHR,X-linked sideroblastic anemia +What are the treatments for X-linked sideroblastic anemia ?,These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked sideroblastic anemia +What is (are) hereditary xanthinuria ?,"Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems. Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.",GHR,hereditary xanthinuria +How many people are affected by hereditary xanthinuria ?,"The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. Hereditary xanthinuria appears to be more common in people of Mediterranean or Middle Eastern ancestry. About 150 cases of this condition have been reported in the medical literature.",GHR,hereditary xanthinuria +What are the genetic changes related to hereditary xanthinuria ?,"Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, xanthine dehydrogenase carries out the final two steps in the process, including the conversion of xanthine to uric acid (which is excreted in urine and feces). Mutations in the XDH gene reduce or eliminate the activity of xanthine dehydrogenase. As a result, the enzyme is not available to help carry out the last two steps of purine breakdown. Because xanthine is not converted to uric acid, affected individuals have high levels of xanthine and very low levels of uric acid in their blood and urine. The excess xanthine can cause damage to the kidneys and other tissues. Hereditary xanthinuria type II results from mutations in the MOCOS gene. This gene provides instructions for making an enzyme called molybdenum cofactor sulfurase. This enzyme is necessary for the normal function of xanthine dehydrogenase, described above, and another enzyme called aldehyde oxidase. Mutations in the MOCOS gene prevent xanthine dehydrogenase and aldehyde oxidase from being turned on (activated). The loss of xanthine dehydrogenase activity prevents the conversion of xanthine to uric acid, leading to an accumulation of xanthine in the kidneys and other tissues. The loss of aldehyde oxidase activity does not appear to cause any health problems.",GHR,hereditary xanthinuria +Is hereditary xanthinuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary xanthinuria +What are the treatments for hereditary xanthinuria ?,These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary xanthinuria +What is (are) keratitis-ichthyosis-deafness syndrome ?,"Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.",GHR,keratitis-ichthyosis-deafness syndrome +How many people are affected by keratitis-ichthyosis-deafness syndrome ?,KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported.,GHR,keratitis-ichthyosis-deafness syndrome +What are the genetic changes related to keratitis-ichthyosis-deafness syndrome ?,"KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth and maturation of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause KID syndrome change single protein building blocks (amino acids) in connexin 26. The mutations are thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the ichthyosis and deafness that occur in KID syndrome. It is unclear how GJB2 gene mutations affect the eye. Because at least one of the GJB2 gene mutations identified in people with KID syndrome also occurs in hystrix-like ichthyosis with deafness (HID), a disorder with similar features but without keratitis, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not.",GHR,keratitis-ichthyosis-deafness syndrome +Is keratitis-ichthyosis-deafness syndrome inherited ?,"KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. A few families have had a condition resembling KID syndrome with an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Affected individuals in these families have liver disease, which is not a feature of the autosomal dominant form. The autosomal recessive condition is sometimes called Desmons syndrome. It is unknown whether it is also caused by GJB2 gene mutations.",GHR,keratitis-ichthyosis-deafness syndrome +What are the treatments for keratitis-ichthyosis-deafness syndrome ?,"These resources address the diagnosis or management of keratitis-ichthyosis-deafness syndrome: - Genetic Testing Registry: Autosomal recessive keratitis-ichthyosis-deafness syndrome - Genetic Testing Registry: Keratitis-ichthyosis-deafness syndrome, autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,keratitis-ichthyosis-deafness syndrome +What is (are) Kallmann syndrome ?,"Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism (HH), which is a condition affecting the production of hormones that direct sexual development. Males with hypogonadotropic hypogonadism are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed. In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing. The features of Kallmann syndrome vary, even among affected people in the same family. Additional signs and symptoms can include a failure of one kidney to develop (unilateral renal agenesis), a cleft lip with or without an opening in the roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. Bimanual synkinesis can make it difficult to do tasks that require the hands to move separately, such as playing a musical instrument. Researchers have identified four forms of Kallmann syndrome, designated types 1 through 4, which are distinguished by their genetic cause. The four types are each characterized by hypogonadotropic hypogonadism and an impaired sense of smell. Additional features, such as a cleft palate, seem to occur only in types 1 and 2.",GHR,Kallmann syndrome +How many people are affected by Kallmann syndrome ?,"Kallmann syndrome is estimated to affect 1 in 10,000 to 86,000 people and occurs more often in males than in females. Kallmann syndrome 1 is the most common form of the disorder.",GHR,Kallmann syndrome +What are the genetic changes related to Kallmann syndrome ?,"Mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. ANOS1 gene mutations are responsible for Kallmann syndrome 1. Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in the PROKR2 and PROK2 genes cause Kallmann syndrome types 3 and 4, respectively. The genes associated with Kallmann syndrome play a role in the development of certain areas of the brain before birth. Although some of their specific functions are unclear, these genes appear to be involved in the formation and movement (migration) of a group of nerve cells that are specialized to process smells (olfactory neurons). These nerve cells come together into a bundle called the olfactory bulb, which is critical for the perception of odors. The ANOS1, FGFR1, PROKR2, and PROK2 genes also play a role in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the gonads (ovaries in women and testes in men). Studies suggest that mutations in the ANOS1, FGFR1, PROKR2, or PROK2 gene disrupt the migration of olfactory nerve cells and GnRH-producing nerve cells in the developing brain. If olfactory nerve cells do not extend to the olfactory bulb, a person's sense of smell will be impaired or absent. Misplacement of GnRH-producing neurons prevents the production of certain sex hormones, which interferes with normal sexual development and causes the characteristic features of hypogonadotropic hypogonadism. It is unclear how gene mutations lead to the other possible signs and symptoms of Kallmann syndrome. Because the features of this condition vary among individuals, researchers suspect that additional genetic and environmental factors may be involved. Together, mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes account for 25 percent to 30 percent of all cases of Kallmann syndrome. In cases without an identified mutation in one of these genes, the cause of the condition is unknown. Researchers are looking for other genes that can cause this disorder.",GHR,Kallmann syndrome +Is Kallmann syndrome inherited ?,"Kallmann syndrome 1 (caused by ANOS1 gene mutations) has an X-linked recessive pattern of inheritance. The ANOS1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kallmann syndrome 1 are described as simplex, which means only one person in a family is affected. Some affected people inherit a ANOS1 gene mutation from their mothers, who carry a single mutated copy of the gene in each cell. Other people have the condition as a result of a new mutation in the ANOS1 gene. Other forms of Kallmann syndrome can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In several families, Kallmann syndrome has shown an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Kallmann syndrome +What are the treatments for Kallmann syndrome ?,These resources address the diagnosis or management of Kallmann syndrome: - Gene Review: Gene Review: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Genetic Testing Registry: Hypogonadism with anosmia - Genetic Testing Registry: Kallmann syndrome 1 - Genetic Testing Registry: Kallmann syndrome 2 - Genetic Testing Registry: Kallmann syndrome 3 - Genetic Testing Registry: Kallmann syndrome 4 - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism - MedlinePlus Encyclopedia: Smell - Impaired These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kallmann syndrome +What is (are) centronuclear myopathy ?,"Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family. People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time. Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability. A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.",GHR,centronuclear myopathy +How many people are affected by centronuclear myopathy ?,Centronuclear myopathy is a rare condition; its exact prevalence is unknown.,GHR,centronuclear myopathy +What are the genetic changes related to centronuclear myopathy ?,"Centronuclear myopathy is most often caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and BIN1 genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from the BIN1 gene plays an additional role in the formation of tube-like structures called transverse tubules (or T tubules), which are found within the membrane of muscle fibers. These tubules help transmit the electrical impulses necessary for normal muscle tensing (contraction) and relaxation. The protein produced from the DNM2 gene also regulates the actin cytoskeleton, which makes up the muscle fiber's structural framework. DNM2 and BIN1 gene mutations lead to abnormal muscle fibers that cannot contract and relax normally, resulting in muscle weakness. The TTN gene provides instructions for making a protein called titin that is an essential component of muscle fiber structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. TTN gene mutations decrease or alter titin's activity in muscle fibers. It is unclear how these mutations lead to centronuclear myopathy, but it is likely that the altered protein cannot interact with other proteins in the sarcomere, leading to dysfunction of the sarcomere. Abnormal sarcomeres prevent muscle fibers from contracting and relaxing normally, resulting in muscle weakness. Some people with centronuclear myopathy do not have identified mutations in the DNM2, BIN1, or TTN genes. Mutations in other genes associated with this condition are found in a small percentage of cases. Some males with signs and symptoms of severe centronuclear myopathy may have a condition called X-linked myotubular myopathy, which is similar to centronuclear myopathy, and is often considered a subtype of the condition, but has a different genetic cause. In some people with centronuclear myopathy, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with centronuclear myopathy.",GHR,centronuclear myopathy +Is centronuclear myopathy inherited ?,"When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy. Centronuclear myopathy caused by TTN gene mutations and most cases caused by BIN1 gene mutations are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Other cases of centronuclear myopathy that are not caused by these genes are typically inherited in an autosomal recessive manner, although some follow an autosomal dominant pattern.",GHR,centronuclear myopathy +What are the treatments for centronuclear myopathy ?,"These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - Genetic Testing Registry: Myopathy, centronuclear, 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,centronuclear myopathy +What is (are) glutaric acidemia type II ?,"Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses. In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet. Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.",GHR,glutaric acidemia type II +How many people are affected by glutaric acidemia type II ?,Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups.,GHR,glutaric acidemia type II +What are the genetic changes related to glutaric acidemia type II ?,"Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase. Glutaric acidemia type II is caused by a deficiency in either of these two enzymes. Electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase are normally active in the mitochondria, which are the energy-producing centers of cells. These enzymes help break down proteins and fats to provide energy for the body. When one of the enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II. People with mutations that result in a complete loss of either enzyme produced from the ETFA, ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. Mutations that allow the enzyme to retain some activity may result in milder forms of the disorder.",GHR,glutaric acidemia type II +Is glutaric acidemia type II inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glutaric acidemia type II +What are the treatments for glutaric acidemia type II ?,"These resources address the diagnosis or management of glutaric acidemia type II: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glutaric acidemia type II +What is (are) 15q24 microdeletion ?,"15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).",GHR,15q24 microdeletion +How many people are affected by 15q24 microdeletion ?,This condition is very rare; only a few dozen affected individuals have been identified.,GHR,15q24 microdeletion +What are the genetic changes related to 15q24 microdeletion ?,"People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development. The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.",GHR,15q24 microdeletion +Is 15q24 microdeletion inherited ?,The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.,GHR,15q24 microdeletion +What are the treatments for 15q24 microdeletion ?,These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,15q24 microdeletion +What is (are) tubular aggregate myopathy ?,"Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can also be involved. Affected individuals can have difficulty running, climbing stairs, or getting up from a squatting position. The weakness may also lead to an unusual walking style (gait). Some people with this condition develop joint deformities (contractures) in the arms and legs. Skeletal muscles are normally made up of two types of fibers, called type I and type II fibers, in approximately equal quantities. Type I fibers, also called slow twitch fibers, are used for long, sustained activity, such as walking long distances. Type II fibers, also known as fast twitch fibers, are used for short bursts of strength, which are needed for activities such as running up stairs or sprinting. In people with tubular aggregate myopathy, type II fibers waste away (atrophy), so affected individuals have mostly type I fibers. In addition, proteins build up abnormally in both type I and type II fibers, forming clumps of tube-like structures called tubular aggregates. Tubular aggregates can occur in other muscle disorders, but they are the primary muscle cell abnormality in tubular aggregate myopathy.",GHR,tubular aggregate myopathy +How many people are affected by tubular aggregate myopathy ?,Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown.,GHR,tubular aggregate myopathy +What are the genetic changes related to tubular aggregate myopathy ?,"Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. In muscle cells, the activation of CRAC channels by STIM1 is thought to help replenish calcium stores in a structure called the sarcoplasmic reticulum. STIM1 may also be involved in the release of calcium ions from the sarcoplasmic reticulum. This release of ions stimulates muscle tensing (contraction). The STIM1 gene mutations involved in tubular aggregate myopathy lead to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. It is unknown how constitutively active STIM1 leads to the muscle weakness characteristic of tubular aggregate myopathy. Evidence suggests that the tubular aggregates are composed of proteins that are normally part of the sarcoplasmic reticulum. Although the mechanism is unknown, some researchers speculate that the aggregates are the result of uncontrolled calcium levels in muscle cells, possibly due to abnormal STIM1 activity. Mutations in other genes, some of which have not been identified, are also thought to cause some cases of tubular aggregate myopathy.",GHR,tubular aggregate myopathy +Is tubular aggregate myopathy inherited ?,"Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a family. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, tubular aggregate myopathy is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Researchers are still working to determine which gene or genes are associated with autosomal recessive tubular aggregate myopathy.",GHR,tubular aggregate myopathy +What are the treatments for tubular aggregate myopathy ?,These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,tubular aggregate myopathy +What is (are) Bloom syndrome ?,"Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes. People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer. Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.",GHR,Bloom syndrome +How many people are affected by Bloom syndrome ?,"Bloom syndrome is a rare disorder. Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background.",GHR,Bloom syndrome +What are the genetic changes related to Bloom syndrome ?,"Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for several processes in the cell nucleus, including copying (replicating) DNA in preparation for cell division and repairing damaged DNA. Because RecQ helicases help maintain the structure and integrity of DNA, they are known as the ""caretakers of the genome."" When a cell prepares to divide to form two cells, the DNA that makes up the chromosomes is copied so that each new cell will have two copies of each chromosome, one from each parent. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Sister chromatids occasionally exchange small sections of DNA during this time, a process known as sister chromatid exchange. Researchers suggest that these exchanges may be a response to DNA damage during the copying process. The BLM protein helps to prevent excess sister chromatid exchanges and is also involved in other processes that help maintain the stability of the DNA during the copying process. BLM gene mutations result in the absence of functional BLM protein. As a result, the frequency of sister chromatid exchange is about 10 times higher than average. Exchange of DNA between chromosomes derived from the individual's mother and father are also increased in people with BLM gene mutations. In addition, chromosome breakage occurs more frequently in affected individuals. All of these changes are associated with gaps and breaks in the genetic material that impair normal cell activities and cause the health problems associated with this condition. Without the BLM protein, the cell is less able to repair DNA damage caused by ultraviolet light, which results in increased sun sensitivity. Genetic changes that allow cells to divide in an uncontrolled way lead to the cancers that occur in people with Bloom syndrome.",GHR,Bloom syndrome +Is Bloom syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bloom syndrome +What are the treatments for Bloom syndrome ?,These resources address the diagnosis or management of Bloom syndrome: - Gene Review: Gene Review: Bloom's Syndrome - Genetic Testing Registry: Bloom syndrome - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bloom syndrome +What is (are) familial hypertrophic cardiomyopathy ?,"Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life. The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting. While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.",GHR,familial hypertrophic cardiomyopathy +How many people are affected by familial hypertrophic cardiomyopathy ?,Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States.,GHR,familial hypertrophic cardiomyopathy +What are the genetic changes related to familial hypertrophic cardiomyopathy ?,"Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition. The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in contraction of the heart muscle by forming muscle cell structures called sarcomeres. Sarcomeres, which are the basic units of muscle contraction, are made up of thick and thin protein filaments. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. The protein produced from the MYH7 gene, called cardiac beta ()-myosin heavy chain, is the major component of the thick filament in sarcomeres. The protein produced from the MYBPC3 gene, cardiac myosin binding protein C, associates with the thick filament, providing structural support and helping to regulate muscle contractions. The TNNT2 and TNNI3 genes provide instructions for making cardiac troponin T and cardiac troponin I, respectively, which are two of the three proteins that make up the troponin protein complex found in cardiac muscle cells. The troponin complex associates with the thin filament of sarcomeres. It controls muscle contraction and relaxation by regulating the interaction of the thick and thin filaments. It is unknown how mutations in sarcomere-related genes lead to hypertrophy of the heart muscle and problems with heart rhythm. The mutations may result in an altered sarcomere protein or reduce the amount of the protein. An abnormality in or shortage of any one of these proteins may impair the function of the sarcomere, disrupting normal cardiac muscle contraction. Research shows that, in affected individuals, contraction and relaxation of the heart muscle is abnormal, even before hypertrophy develops. However, it is not clear how these contraction problems are related to hypertrophy or the symptoms of familial hypertrophic cardiomyopathy.",GHR,familial hypertrophic cardiomyopathy +Is familial hypertrophic cardiomyopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition.",GHR,familial hypertrophic cardiomyopathy +What are the treatments for familial hypertrophic cardiomyopathy ?,These resources address the diagnosis or management of familial hypertrophic cardiomyopathy: - Cleveland Clinic - Gene Review: Gene Review: Hypertrophic Cardiomyopathy Overview - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 1 - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 2 - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 4 - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 7 - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy - Stanford University Hospitals and Clinics - The Sarcomeric Human Cardiomyopathies Registry (ShaRe) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial hypertrophic cardiomyopathy +What is (are) Muckle-Wells syndrome ?,"Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent ""flare-ups"" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.",GHR,Muckle-Wells syndrome +How many people are affected by Muckle-Wells syndrome ?,"Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown.",GHR,Muckle-Wells syndrome +What are the genetic changes related to Muckle-Wells syndrome ?,"Mutations in the NLRP3 gene (also known as CIAS1) cause Muckle-Wells syndrome. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process. Researchers believe that NLRP3 gene mutations that cause Muckle-Wells syndrome result in a hyperactive cryopyrin protein and an inappropriate inflammatory response. Impairment of the body's mechanisms for controlling inflammation results in the episodes of fever and damage to the body's cells and tissues seen in Muckle-Wells syndrome.",GHR,Muckle-Wells syndrome +Is Muckle-Wells syndrome inherited ?,"This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the inheritance pattern is unknown.",GHR,Muckle-Wells syndrome +What are the treatments for Muckle-Wells syndrome ?,These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Muckle-Wells syndrome +What is (are) van der Woude syndrome ?,"Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.",GHR,van der Woude syndrome +How many people are affected by van der Woude syndrome ?,"Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.",GHR,van der Woude syndrome +What are the genetic changes related to van der Woude syndrome ?,"Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals. Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.",GHR,van der Woude syndrome +Is van der Woude syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.",GHR,van der Woude syndrome +What are the treatments for van der Woude syndrome ?,These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,van der Woude syndrome +What is (are) common variable immune deficiency ?,"Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.",GHR,common variable immune deficiency +How many people are affected by common variable immune deficiency ?,"CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations.",GHR,common variable immune deficiency +What are the genetic changes related to common variable immune deficiency ?,"CVID is believed to result from mutations in genes that are involved in the development and function of immune system cells called B cells. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). These proteins attach to foreign particles, marking them for destruction. Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies. People with CVID have a shortage (deficiency) of specific antibodies called immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin M (IgM). Some have a deficiency of all three antibodies, while others are lacking only IgG and IgA. A shortage of these antibodies makes it difficult for people with this disorder to fight off infections. Abnormal and deficient immune responses over time likely contribute to the increased cancer risk. In addition, vaccines for diseases such as measles and influenza do not provide protection for people with CVID because they cannot produce an antibody response. Mutations in at least 10 genes have been associated with CVID. Approximately 10 percent of affected individuals have mutations in the TNFRSF13B gene. The protein produced from this gene plays a role in the survival and maturation of B cells and in the production of antibodies. TNFRSF13B gene mutations disrupt B cell function and antibody production, leading to immune dysfunction. Other genes associated with CVID are also involved in the function and maturation of immune system cells, particularly of B cells; mutations in these genes account for only a small percentage of cases. In most cases of CVID, the cause is unknown, but it is likely a combination of genetic and environmental factors.",GHR,common variable immune deficiency +Is common variable immune deficiency inherited ?,"Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors. In some families, CVID is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In very rare cases, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. When CVID is caused by mutations in the TNFRSF13B gene, it is often sporadic. When TNFRSF13B gene mutations are inherited, they can cause either autosomal dominant CVID or autosomal recessive CVID. Not all individuals who inherit a gene mutation associated with CVID will develop the disease. In many cases, affected children have an unaffected parent who shares the same mutation. Additional genetic or environmental factors are probably needed for the disorder to occur.",GHR,common variable immune deficiency +What are the treatments for common variable immune deficiency ?,"These resources address the diagnosis or management of common variable immune deficiency: - Genetic Testing Registry: Common variable immunodeficiency 10 - Genetic Testing Registry: Common variable immunodeficiency 11 - Genetic Testing Registry: Common variable immunodeficiency 2 - Genetic Testing Registry: Common variable immunodeficiency 5 - Genetic Testing Registry: Common variable immunodeficiency 6 - Genetic Testing Registry: Common variable immunodeficiency 7 - Genetic Testing Registry: Common variable immunodeficiency 8, with autoimmunity - Genetic Testing Registry: Common variable immunodeficiency 9 - KidsHealth from Nemours: Blood Test: Immunoglobulins - MedlinePlus Encyclopedia: Immunodeficiency Disorders - National Marrow Donor Program - Primary Immune Deficiency Treatment Consortium - United States Immunodeficiency Network These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,common variable immune deficiency +What is (are) Farber lipogranulomatosis ?,"Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features. Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.",GHR,Farber lipogranulomatosis +How many people are affected by Farber lipogranulomatosis ?,Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide.,GHR,Farber lipogranulomatosis +What are the genetic changes related to Farber lipogranulomatosis ?,"Mutations in the ASAH1 gene cause Farber lipogranulomatosis. The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials. Acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells. Mutations in the ASAH1 gene lead to severe reduction in acid ceramidase, typically to below 10 percent of normal. As a result, the enzyme cannot break down ceramides properly and they build up in the lysosomes of various cells, including in the lung, liver, colon, muscles used for movement (skeletal muscles), cartilage, and bone. The buildup of ceramides along with the reduction of its fatty breakdown products in cells likely causes the signs and symptoms of Farber lipogranulomatosis. It is unclear whether the level of acid ceramidase activity is related to the severity of the disorder.",GHR,Farber lipogranulomatosis +Is Farber lipogranulomatosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Farber lipogranulomatosis +What are the treatments for Farber lipogranulomatosis ?,These resources address the diagnosis or management of Farber lipogranulomatosis: - Genetic Testing Registry: Farber's lipogranulomatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Farber lipogranulomatosis +What is (are) sialic acid storage disease ?,"Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease. Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as ""coarse,"" seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood. Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood. People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity.",GHR,sialic acid storage disease +How many people are affected by sialic acid storage disease ?,Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease.,GHR,sialic acid storage disease +What are the genetic changes related to sialic acid storage disease ?,"Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. Free sialic acid means that the sialic acid is not attached (bound) to other molecules. Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood. Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some of these mutations result in sialin that does not function normally; others prevent sialin from being produced. In a few cases, sialin is produced but not routed properly to the lysosomal membrane. SLC17A5 gene mutations that reduce or eliminate sialin activity result in a buildup of free sialic acid in the lysosomes. It is not known how this buildup, or the disruption of other possible functions of sialin in the brain, causes the specific signs and symptoms of sialic acid storage disease.",GHR,sialic acid storage disease +Is sialic acid storage disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sialic acid storage disease +What are the treatments for sialic acid storage disease ?,"These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sialic acid storage disease +What is (are) Smith-Magenis syndrome ?,"Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep and awaken several times each night. People with Smith-Magenis syndrome have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. People with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as ""lick and flip""). Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.",GHR,Smith-Magenis syndrome +How many people are affected by Smith-Magenis syndrome ?,"Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals.",GHR,Smith-Magenis syndrome +What are the genetic changes related to Smith-Magenis syndrome ?,"Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. The loss of other genes in the deleted region may help explain why the features of Smith-Magenis syndrome vary among affected individuals. A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion. Although these individuals have many of the major features of the condition, they are less likely than people with a chromosomal deletion to have short stature, hearing loss, and heart or kidney abnormalities. The RAI1 gene provides instructions for making a protein whose function is unknown. Mutations in one copy of this gene lead to the production of a nonfunctional version of the RAI1 protein or reduce the amount of this protein that is produced in cells. Researchers are uncertain how changes in this protein result in the physical, mental, and behavioral problems associated with Smith-Magenis syndrome.",GHR,Smith-Magenis syndrome +Is Smith-Magenis syndrome inherited ?,"Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family.",GHR,Smith-Magenis syndrome +What are the treatments for Smith-Magenis syndrome ?,These resources address the diagnosis or management of Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Smith-Magenis syndrome +What is (are) vitelliform macular dystrophy ?,"Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.",GHR,vitelliform macular dystrophy +How many people are affected by vitelliform macular dystrophy ?,Vitelliform macular dystrophy is a rare disorder; its incidence is unknown.,GHR,vitelliform macular dystrophy +What are the genetic changes related to vitelliform macular dystrophy ?,"Mutations in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 mutations are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a quarter of all people with this form of the condition have mutations in the BEST1 or PRPH2 gene. In most cases, the cause of the adult-onset form is unknown. The BEST1 gene provides instructions for making a protein called bestrophin. This protein acts as a channel that controls the movement of charged chlorine atoms (chloride ions) into or out of cells in the retina. Mutations in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot properly regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss. The PRPH2 gene provides instructions for making a protein called peripherin 2. This protein is essential for the normal function of light-sensing (photoreceptor) cells in the retina. Mutations in the PRPH2 gene cause vision loss by disrupting structures in these cells that contain light-sensing pigments. It is unclear why PRPH2 mutations affect only central vision in people with adult-onset vitelliform macular dystrophy.",GHR,vitelliform macular dystrophy +Is vitelliform macular dystrophy inherited ?,"Best disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. The inheritance pattern of adult-onset vitelliform macular dystrophy is uncertain. Some studies have suggested that this disorder may be inherited in an autosomal dominant pattern. It is difficult to be sure, however, because many affected people have no history of the disorder in their family, and only a small number of affected families have been reported.",GHR,vitelliform macular dystrophy +What are the treatments for vitelliform macular dystrophy ?,"These resources address the diagnosis or management of vitelliform macular dystrophy: - Gene Review: Gene Review: Best Vitelliform Macular Dystrophy - Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset - Genetic Testing Registry: Vitelliform dystrophy - MedlinePlus Encyclopedia: Macula (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,vitelliform macular dystrophy +What is (are) isolated growth hormone deficiency ?,"Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood. There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern. Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth. People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood. Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone. Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).",GHR,isolated growth hormone deficiency +How many people are affected by isolated growth hormone deficiency ?,"The incidence of isolated growth hormone deficiency is estimated to be 1 in 4,000 to 10,000 individuals worldwide.",GHR,isolated growth hormone deficiency +What are the genetic changes related to isolated growth hormone deficiency ?,"Isolated growth hormone deficiency is caused by mutations in one of at least three genes. Isolated growth hormone deficiency types IA and II are caused by mutations in the GH1 gene. Type IB is caused by mutations in either the GH1 or GHRHR gene. Type III is caused by mutations in the BTK gene. The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the pituitary gland and plays a major role in promoting the body's growth. Growth hormone also plays a role in various chemical reactions (metabolic processes) in the body. Mutations in the GH1 gene prevent or impair the production of growth hormone. Without sufficient growth hormone, the body fails to grow at its normal rate, resulting in slow growth and short stature as seen in isolated growth hormone deficiency types IA, IB, and II. The GHRHR gene provides instructions for making a protein called the growth hormone releasing hormone receptor. This receptor attaches (binds) to a molecule called growth hormone releasing hormone. The binding of growth hormone releasing hormone to the receptor triggers the production of growth hormone and its release from the pituitary gland. Mutations in the GHRHR gene impair the production or release of growth hormone. The resulting shortage of growth hormone prevents the body from growing at the expected rate. Decreased growth hormone activity due to GHRHR gene mutations is responsible for many cases of isolated growth hormone deficiency type IB. The BTK gene provides instructions for making a protein called Bruton tyrosine kinase (BTK), which is essential for the development and maturation of immune system cells called B cells. The BTK protein transmits important chemical signals that instruct B cells to mature and produce special proteins called antibodies. Antibodies attach to specific foreign particles and germs, marking them for destruction. It is unknown how mutations in the BTK gene contribute to short stature in people with isolated growth hormone deficiency type III. Some people with isolated growth hormone deficiency do not have mutations in the GH1, GHRHR, or BTK genes. In these individuals, the cause of the condition is unknown. When this condition does not have an identified genetic cause, it is known as idiopathic isolated growth hormone deficiency.",GHR,isolated growth hormone deficiency +Is isolated growth hormone deficiency inherited ?,"Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition. Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Isolated growth hormone deficiency type II can be inherited in an autosomal dominant pattern, which means a mutation in one copy of the GH1 gene in each cell is sufficient to cause the disorder. This condition can also result from new mutations in the GH1 gene and occur in people with no history of the disorder in their family. Isolated growth hormone deficiency type III, caused by mutations in the BTK gene, is inherited in an X-linked recessive pattern. The BTK gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,isolated growth hormone deficiency +What are the treatments for isolated growth hormone deficiency ?,These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolated growth hormone deficiency type 1B - Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency - MedlinePlus Encyclopedia: Growth Hormone Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isolated growth hormone deficiency +What is (are) UV-sensitive syndrome ?,"UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.",GHR,UV-sensitive syndrome +How many people are affected by UV-sensitive syndrome ?,"UV-sensitive syndrome appears to be a rare condition; only a small number of affected individuals have been reported in the scientific literature. However, this condition may be underdiagnosed.",GHR,UV-sensitive syndrome +What are the genetic changes related to UV-sensitive syndrome ?,"UV-sensitive syndrome can result from mutations in the ERCC6 gene (also known as the CSB gene), the ERCC8 gene (also known as the CSA gene), or the UVSSA gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death. Cells have several mechanisms to correct DNA damage. The CSB, CSA, and UVSSA proteins are involved in one mechanism that repairs damaged DNA within active genes (those genes undergoing gene transcription, the first step in protein production). When DNA in active genes is damaged, the enzyme that carries out gene transcription (RNA polymerase) gets stuck, and the process stalls. Researchers think that the CSB, CSA, and UVSSA proteins help remove RNA polymerase from the damaged site, so the DNA can be repaired. Mutations in the ERCC6, ERCC8, or UVSSA genes lead to the production of an abnormal protein or the loss of the protein. If any of these proteins is not functioning normally, skin cells cannot repair DNA damage caused by UV rays, and transcription of damaged genes is blocked. However, it is unclear exactly how abnormalities in these proteins cause the signs and symptoms of UV-sensitive syndrome.",GHR,UV-sensitive syndrome +Is UV-sensitive syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,UV-sensitive syndrome +What are the treatments for UV-sensitive syndrome ?,These resources address the diagnosis or management of UV-sensitive syndrome: - Genetic Testing Registry: UV-sensitive syndrome - Genetic Testing Registry: UV-sensitive syndrome 2 - Genetic Testing Registry: UV-sensitive syndrome 3 - Merck Manual Home Health Edition: Sunburn - World Health Organization: Sun Protection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,UV-sensitive syndrome +What is (are) activated PI3K-delta syndrome ?,"Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections. Another possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy), or the white blood cells can build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While lymphadenopathy and nodular lymphoid hyperplasia are noncancerous (benign), activated PI3K-delta syndrome also increases the risk of developing a form of cancer called B-cell lymphoma.",GHR,activated PI3K-delta syndrome +How many people are affected by activated PI3K-delta syndrome ?,The prevalence of activated PI3K-delta syndrome is unknown.,GHR,activated PI3K-delta syndrome +What are the genetic changes related to activated PI3K-delta syndrome ?,"Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing the p110 subunit, called PI3K-delta, is specifically found in white blood cells, including B cells and T cells. PI3K-delta signaling is involved in the growth and division (proliferation) of white blood cells, and it helps direct B cells and T cells to mature (differentiate) into different types, each of which has a distinct function in the immune system. PIK3CD gene mutations involved in activated PI3K-delta syndrome lead to production of an altered p110 protein. A PI3K-delta enzyme containing the altered subunit is abnormally turned on (activated). Studies indicate that overactive PI3K-delta signaling alters the differentiation of B cells and T cells, leading to production of cells that cannot respond to infections and that die earlier than usual. Lack of functioning B cells and T cells makes it difficult for people with this disorder to fight off bacterial and viral infections. Overactivation of PI3K-delta signaling can also stimulate abnormal proliferation of white blood cells, leading to lymphadenopathy and nodular lymphoid hyperplasia in some affected individuals. An increase in B cell proliferation in combination with reduced immune system function may contribute to development of B-cell lymphoma.",GHR,activated PI3K-delta syndrome +Is activated PI3K-delta syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,activated PI3K-delta syndrome +What are the treatments for activated PI3K-delta syndrome ?,These resources address the diagnosis or management of activated PI3K-delta syndrome: - Genetic Testing Registry: Activated PI3K-delta syndrome - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Doctor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,activated PI3K-delta syndrome +What is (are) Zellweger spectrum disorder ?,"Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild. Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanels) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life. People with NALD or infantile Refsum disease, which are at the less-severe end of the spectrum, have more variable features than those with Zellweger syndrome and usually do not develop signs and symptoms of the disease until late infancy or early childhood. They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. Children with these less-severe conditions often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with NALD survive into childhood, and those with infantile Refsum disease may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder.",GHR,Zellweger spectrum disorder +How many people are affected by Zellweger spectrum disorder ?,"Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals.",GHR,Zellweger spectrum disorder +What are the genetic changes related to Zellweger spectrum disorder ?,"Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. Mutations in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells. NALD and infantile Refsum disease are caused by mutations that allow some peroxisomes to form. Mutations in the PEX1 gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition.",GHR,Zellweger spectrum disorder +Is Zellweger spectrum disorder inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Zellweger spectrum disorder +What are the treatments for Zellweger spectrum disorder ?,"These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Peroxisome biogenesis disorders, Zellweger syndrome spectrum - Genetic Testing Registry: Zellweger syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Zellweger spectrum disorder +What is (are) benign familial neonatal seizures ?,"Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading. Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.",GHR,benign familial neonatal seizures +How many people are affected by benign familial neonatal seizures ?,"Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns.",GHR,benign familial neonatal seizures +What are the genetic changes related to benign familial neonatal seizures ?,"Mutations in two genes, KCNQ2 and KCNQ3, have been found to cause BFNS. Mutations in the KCNQ2 gene are a much more common cause of the condition than mutations in the KCNQ3 gene. The KCNQ2 and KCNQ3 genes provide instructions for making proteins that interact to form potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. Channels made with the KCNQ2 and KCNQ3 proteins are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. These channels transmit a particular type of electrical signal called the M-current, which prevents the neuron from continuing to send signals to other neurons. The M-current ensures that the neuron is not constantly active, or excitable. Mutations in the KCNQ2 or KCNQ3 gene result in a reduced or altered M-current, which leads to excessive excitability of neurons. Seizures develop when neurons in the brain are abnormally excited. It is unclear why the seizures stop around the age of 4 months. It has been suggested that potassium channels formed from the KCNQ2 and KCNQ3 proteins play a major role in preventing excessive excitability of neurons in newborns, but other mechanisms develop during infancy. About 70 percent of people with BFNS have a mutation in either the KCNQ2 or the KCNQ3 gene. Researchers are working to identify other gene mutations involved in this condition.",GHR,benign familial neonatal seizures +Is benign familial neonatal seizures inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few cases result from new mutations in the KCNQ2 gene. These cases occur in people with no history of benign familial neonatal seizures in their family.",GHR,benign familial neonatal seizures +What are the treatments for benign familial neonatal seizures ?,These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign familial neonatal seizures - Genetic Testing Registry: Benign familial neonatal seizures 1 - Genetic Testing Registry: Benign familial neonatal seizures 2 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,benign familial neonatal seizures +What is (are) spastic paraplegia type 3A ?,"Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve only the lower limbs, while the complex types also involve other areas of the body; additional features can include changes in vision, changes in intellectual functioning, difficulty walking, and disturbances in nerve function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported. In addition to spasticity and weakness, which typically affect both legs equally, people with spastic paraplegia type 3A can also experience progressive muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an abnormal curvature of the spine (scoliosis), loss of sensation in the feet (peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 3A usually appear before the age of 10; the average age of onset is 4 years. In some affected individuals the condition slowly worsens over time, sometimes leading to a need for walking support.",GHR,spastic paraplegia type 3A +How many people are affected by spastic paraplegia type 3A ?,"Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.",GHR,spastic paraplegia type 3A +What are the genetic changes related to spastic paraplegia type 3A ?,"Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells. ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.",GHR,spastic paraplegia type 3A +Is spastic paraplegia type 3A inherited ?,"Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.",GHR,spastic paraplegia type 3A +What are the treatments for spastic paraplegia type 3A ?,"These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 3A +What is (are) hereditary sensory and autonomic neuropathy type IE ?,"Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. People with HSAN IE also develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35. HSAN IE is characterized by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Sensations in the feet and legs are particularly affected in people with HSAN IE. Gradual loss of sensation in the feet (peripheral neuropathy), which usually begins in adolescence or early adulthood, can lead to difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to open sores and infections. If these complications are severe, amputation of the affected areas may be required. HSAN IE is also characterized by a loss of the ability to sweat (sudomotor function), especially on the hands and feet. Sweating is a function of the autonomic nervous system, which also controls involuntary body functions such as heart rate, digestion, and breathing. These other autonomic functions are unaffected in people with HSAN IE. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even within the same family.",GHR,hereditary sensory and autonomic neuropathy type IE +How many people are affected by hereditary sensory and autonomic neuropathy type IE ?,HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world.,GHR,hereditary sensory and autonomic neuropathy type IE +What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?,"HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines. DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival. DNMT1 gene mutations that cause HSAN IE reduce or eliminate the enzyme's methylation function, resulting in abnormalities in the maintenance of the neurons that make up the nervous system. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.",GHR,hereditary sensory and autonomic neuropathy type IE +Is hereditary sensory and autonomic neuropathy type IE inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,hereditary sensory and autonomic neuropathy type IE +What are the treatments for hereditary sensory and autonomic neuropathy type IE ?,"These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hereditary sensory and autonomic neuropathy type IE +What is (are) multiple pterygium syndrome ?,"Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.",GHR,multiple pterygium syndrome +How many people are affected by multiple pterygium syndrome ?,The prevalence of multiple pterygium syndrome is unknown.,GHR,multiple pterygium syndrome +What are the genetic changes related to multiple pterygium syndrome ?,"Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth. CHRNG gene mutations result in an impaired or missing subunit. The severity of the CHRNG gene mutation influences the severity of the condition. Typically, mutations that prevent the production of any subunit will result in the lethal type, while mutations that allow the production of some subunit will lead to the Escobar type. Without a functional subunit, the fetal AChR protein cannot be assembled or properly placed in the muscle cell membrane. As a result, the fetal AChR protein cannot function and the communication between nerve cells and muscle cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome. Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. Changes in these genes can cause both the lethal and Escobar types of this condition, although they account for only a small number of cases. Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. The cause of the disease in these individuals is unknown.",GHR,multiple pterygium syndrome +Is multiple pterygium syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,multiple pterygium syndrome +What are the treatments for multiple pterygium syndrome ?,These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple pterygium syndrome +What is (are) Fukuyama congenital muscular dystrophy ?,"Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life. Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures. Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.",GHR,Fukuyama congenital muscular dystrophy +How many people are affected by Fukuyama congenital muscular dystrophy ?,"Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.",GHR,Fukuyama congenital muscular dystrophy +What are the genetic changes related to Fukuyama congenital muscular dystrophy ?,"Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. This protein anchors cells to the lattice of proteins and other molecules (the extracellular matrix) that surrounds them. In skeletal muscles, -dystroglycan helps stabilize and protect muscle fibers. In the brain, this protein helps direct the movement (migration) of nerve cells (neurons) during early development. The most common mutation in the FKTN gene reduces the amount of fukutin produced within cells. A shortage of fukutin likely prevents the normal modification of -dystroglycan, which disrupts that protein's normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness and atrophy of the skeletal muscles. Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. Less is known about the effects of FKTN mutations in other parts of the body. Because Fukuyama congenital muscular dystrophy involves a malfunction of -dystroglycan, this condition is described as a dystroglycanopathy.",GHR,Fukuyama congenital muscular dystrophy +Is Fukuyama congenital muscular dystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Fukuyama congenital muscular dystrophy +What are the treatments for Fukuyama congenital muscular dystrophy ?,These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encyclopedia: Aspiration Pneumonia - MedlinePlus Encyclopedia: Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Fukuyama congenital muscular dystrophy +What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. ""Polycystic lipomembranous osteodysplasia"" refers to cyst-like bone changes that can be seen on x-rays. ""Sclerosing leukoencephalopathy"" describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.",GHR,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,"PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.",GHR,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,"Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear. Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.",GHR,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +What is (are) Aarskog-Scott syndrome ?,"Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm. Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely among affected individuals. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.",GHR,Aarskog-Scott syndrome +How many people are affected by Aarskog-Scott syndrome ?,"Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.",GHR,Aarskog-Scott syndrome +What are the genetic changes related to Aarskog-Scott syndrome ?,"Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome. Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.",GHR,Aarskog-Scott syndrome +Is Aarskog-Scott syndrome inherited ?,"Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Aarskog-Scott syndrome +What are the treatments for Aarskog-Scott syndrome ?,These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Aarskog-Scott syndrome +What is (are) Li-Fraumeni syndrome ?,"Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.",GHR,Li-Fraumeni syndrome +How many people are affected by Li-Fraumeni syndrome ?,The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.,GHR,Li-Fraumeni syndrome +What are the genetic changes related to Li-Fraumeni syndrome ?,"The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).",GHR,Li-Fraumeni syndrome +Is Li-Fraumeni syndrome inherited ?,"Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.",GHR,Li-Fraumeni syndrome +What are the treatments for Li-Fraumeni syndrome ?,These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Li-Fraumeni syndrome +What is (are) phosphoglycerate kinase deficiency ?,"Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke. The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure. Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.",GHR,phosphoglycerate kinase deficiency +How many people are affected by phosphoglycerate kinase deficiency ?,Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.,GHR,phosphoglycerate kinase deficiency +What are the genetic changes related to phosphoglycerate kinase deficiency ?,"Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.",GHR,phosphoglycerate kinase deficiency +Is phosphoglycerate kinase deficiency inherited ?,"This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,phosphoglycerate kinase deficiency +What are the treatments for phosphoglycerate kinase deficiency ?,These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,phosphoglycerate kinase deficiency +What is (are) X-linked thrombocytopenia ?,"X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening. Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome. Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.",GHR,X-linked thrombocytopenia +How many people are affected by X-linked thrombocytopenia ?,The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females.,GHR,X-linked thrombocytopenia +What are the genetic changes related to X-linked thrombocytopenia ?,"Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.",GHR,X-linked thrombocytopenia +Is X-linked thrombocytopenia inherited ?,"This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked thrombocytopenia +What are the treatments for X-linked thrombocytopenia ?,"These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked thrombocytopenia +What is (are) Legg-Calv-Perthes disease ?,"Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.",GHR,Legg-Calv-Perthes disease +How many people are affected by Legg-Calv-Perthes disease ?,"The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.",GHR,Legg-Calv-Perthes disease +What are the genetic changes related to Legg-Calv-Perthes disease ?,"Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.",GHR,Legg-Calv-Perthes disease +Is Legg-Calv-Perthes disease inherited ?,"When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. These cases are referred to as sporadic. In other cases, the condition is passed through families. In these cases, referred to as familial, an affected person inherits the mutation from one affected parent.",GHR,Legg-Calv-Perthes disease +What are the treatments for Legg-Calv-Perthes disease ?,These resources address the diagnosis or management of Legg-Calv-Perthes disease: - National Osteonecrosis Foundation - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Legg-Calv-Perthes disease +What is (are) homocystinuria ?,"Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.",GHR,homocystinuria +How many people are affected by homocystinuria ?,"The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.",GHR,homocystinuria +What are the genetic changes related to homocystinuria ?,"Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Some of the excess homocysteine is excreted in urine. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.",GHR,homocystinuria +Is homocystinuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have shortages (deficiencies) of vitamin B12 and folic acid.",GHR,homocystinuria +What are the treatments for homocystinuria ?,"These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR deficiency - Genetic Testing Registry: Homocystinuria due to CBS deficiency - Genetic Testing Registry: Homocystinuria, cblD type, variant 1 - Genetic Testing Registry: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type - Genetic Testing Registry: METHYLCOBALAMIN DEFICIENCY, cblG TYPE - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD - Genetic Testing Registry: Methylmalonic aciduria, cblD type, variant 2 - MedlinePlus Encyclopedia: Homocystinuria - New England Consortium of Metabolic Programs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,homocystinuria +What is (are) Baraitser-Winter syndrome ?,"Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin. Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures. Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).",GHR,Baraitser-Winter syndrome +How many people are affected by Baraitser-Winter syndrome ?,Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.,GHR,Baraitser-Winter syndrome +What are the genetic changes related to Baraitser-Winter syndrome ?,"Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.",GHR,Baraitser-Winter syndrome +Is Baraitser-Winter syndrome inherited ?,"This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.",GHR,Baraitser-Winter syndrome +What are the treatments for Baraitser-Winter syndrome ?,These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Baraitser-Winter syndrome +What is (are) cri-du-chat syndrome ?,"Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.",GHR,cri-du-chat syndrome +How many people are affected by cri-du-chat syndrome ?,"Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.",GHR,cri-du-chat syndrome +What are the genetic changes related to cri-du-chat syndrome ?,"Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.",GHR,cri-du-chat syndrome +Is cri-du-chat syndrome inherited ?,"Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.",GHR,cri-du-chat syndrome +What are the treatments for cri-du-chat syndrome ?,These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cri-du-chat syndrome +What is (are) restless legs syndrome ?,"Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep. The signs and symptoms of restless legs syndrome range from mild to severe; people with mild cases may experience symptoms a few times a month, while those with more severe cases may have symptoms every night. In severe cases, the uncomfortable feelings can affect the arms or other parts of the body in addition to the legs. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. When these movements occur during sleep, they are called periodic limb movements of sleep (PLMS); when they occur while a person is awake, they are called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS and PLMW are features of restless legs syndrome itself or represent similar, but separate, conditions. Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a result of these conditions, affected individuals may have difficulty concentrating during the day, and some develop mood swings, depression, or other health problems. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45, and sometimes as early as childhood. The signs and symptoms of this form usually worsen slowly with time. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly.",GHR,restless legs syndrome +How many people are affected by restless legs syndrome ?,"Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age.",GHR,restless legs syndrome +What are the genetic changes related to restless legs syndrome ?,"Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. Among its many functions, dopamine triggers signals within the nervous system that help the brain control physical movement. Researchers believe that malfunction of the dopamine signaling system may underlie the abnormal movements in people with restless legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how these changes in the brain lead to the particular signs and symptoms of the condition. Variations in several genes have been studied as risk factors for restless legs syndrome. Most of these genes are thought to be involved in the development of nerve cells (neurons) before birth. It is unclear whether any of the genes play roles in brain iron levels or in dopamine signaling. Variations in known genes appear to account for only a small percentage of the risk of developing restless legs syndrome. Changes in other genes, which have not been identified, probably also contribute to this complex disorder. Researchers suspect that the early-onset form of restless legs syndrome is more likely than the late-onset form to have a genetic basis. Nongenetic factors are also thought to play a role in restless legs syndrome. For example, several other disorders increase the risk of developing the condition. These include a life-threatening failure of kidney function called end-stage renal disease, diabetes mellitus, multiple sclerosis, rheumatoid arthritis, and Parkinson disease. People with low iron levels associated with a shortage of red blood cells (anemia) and women who are pregnant are also more likely to develop restless legs syndrome. In these cases, the condition usually improves or goes away when iron levels increase or after the woman gives birth. Restless legs syndrome can be triggered by medications, including certain drugs used to treat nausea, depression and other mental health disorders, colds and allergies, heart problems, and high blood pressure. Use of caffeine, nicotine, or alcohol can also trigger restless legs syndrome or make the signs and symptoms worse. In these cases, the condition usually improves or goes away once a person stops using these medications or substances.",GHR,restless legs syndrome +Is restless legs syndrome inherited ?,"The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form. In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.",GHR,restless legs syndrome +What are the treatments for restless legs syndrome ?,"These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Diagnosed? - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Treated? - Restless Leg Syndrome Foundation: Diagnosis - Restless Leg Syndrome Foundation: Treatment Options These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,restless legs syndrome +What is (are) ophthalmo-acromelic syndrome ?,"Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.",GHR,ophthalmo-acromelic syndrome +How many people are affected by ophthalmo-acromelic syndrome ?,The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.,GHR,ophthalmo-acromelic syndrome +What are the genetic changes related to ophthalmo-acromelic syndrome ?,"Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts. SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.",GHR,ophthalmo-acromelic syndrome +Is ophthalmo-acromelic syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ophthalmo-acromelic syndrome +What are the treatments for ophthalmo-acromelic syndrome ?,These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ophthalmo-acromelic syndrome +What is (are) Maffucci syndrome ?,"Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body. Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer. People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.",GHR,Maffucci syndrome +How many people are affected by Maffucci syndrome ?,"Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.",GHR,Maffucci syndrome +What are the genetic changes related to Maffucci syndrome ?,"In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Maffucci syndrome.",GHR,Maffucci syndrome +Is Maffucci syndrome inherited ?,"Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.",GHR,Maffucci syndrome +What are the treatments for Maffucci syndrome ?,These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Maffucci syndrome +What is (are) Pearson marrow-pancreas syndrome ?,"Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected. Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts. In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct blood sugar levels. A small number of individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition characterized by abnormally high blood sugar levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas. People with Pearson marrow-pancreas syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition. About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.",GHR,Pearson marrow-pancreas syndrome +How many people are affected by Pearson marrow-pancreas syndrome ?,Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown.,GHR,Pearson marrow-pancreas syndrome +What are the genetic changes related to Pearson marrow-pancreas syndrome ?,"Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. Pearson marrow-pancreas syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides. The mtDNA deletions involved in Pearson marrow-pancreas syndrome result in the loss of genes that provide instructions for proteins involved in oxidative phosphorylation. These deletions impair oxidative phosphorylation and decrease the energy available to cells. It is not clear how loss of mtDNA leads to the specific signs and symptoms of Pearson marrow-pancreas syndrome, although the features of the condition are likely related to a lack of cellular energy.",GHR,Pearson marrow-pancreas syndrome +Is Pearson marrow-pancreas syndrome inherited ?,Pearson marrow-pancreas syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.,GHR,Pearson marrow-pancreas syndrome +What are the treatments for Pearson marrow-pancreas syndrome ?,These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pearson marrow-pancreas syndrome +What is (are) Gaucher disease ?,"Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).",GHR,Gaucher disease +How many people are affected by Gaucher disease ?,"Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent.",GHR,Gaucher disease +What are the genetic changes related to Gaucher disease ?,"Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.",GHR,Gaucher disease +Is Gaucher disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Gaucher disease +What are the treatments for Gaucher disease ?,These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Gaucher disease +What is (are) Meige disease ?,"Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.",GHR,Meige disease +How many people are affected by Meige disease ?,"The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males.",GHR,Meige disease +What are the genetic changes related to Meige disease ?,"The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease.",GHR,Meige disease +Is Meige disease inherited ?,"Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease.",GHR,Meige disease +What are the treatments for Meige disease ?,These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Meige disease +What is (are) congenital insensitivity to pain with anhidrosis ?,"Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.",GHR,congenital insensitivity to pain with anhidrosis +How many people are affected by congenital insensitivity to pain with anhidrosis ?,"CIPA is a rare condition; however, the prevalence is unknown.",GHR,congenital insensitivity to pain with anhidrosis +What are the genetic changes related to congenital insensitivity to pain with anhidrosis ?,"Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that transmit pain, temperature, and touch sensations (sensory neurons). When the NGF protein binds to the NTRK1 receptor, signals are transmitted inside the cell that tell the cell to grow and divide, and that help it survive. Mutations in the NTRK1 gene lead to a protein that cannot transmit signals. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.",GHR,congenital insensitivity to pain with anhidrosis +Is congenital insensitivity to pain with anhidrosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital insensitivity to pain with anhidrosis +What are the treatments for congenital insensitivity to pain with anhidrosis ?,These resources address the diagnosis or management of CIPA: - Gene Review: Gene Review: Congenital Insensitivity to Pain with Anhidrosis - Genetic Testing Registry: Hereditary insensitivity to pain with anhidrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital insensitivity to pain with anhidrosis +What is (are) maple syrup urine disease ?,"Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated.",GHR,maple syrup urine disease +How many people are affected by maple syrup urine disease ?,"Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.",GHR,maple syrup urine disease +What are the genetic changes related to maple syrup urine disease ?,"Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs. Mutations in any of these three genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease.",GHR,maple syrup urine disease +Is maple syrup urine disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,maple syrup urine disease +What are the treatments for maple syrup urine disease ?,These resources address the diagnosis or management of maple syrup urine disease: - Baby's First Test - Gene Review: Gene Review: Maple Syrup Urine Disease - Genetic Testing Registry: Maple syrup urine disease - MedlinePlus Encyclopedia: Maple Syrup Urine Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,maple syrup urine disease +What is (are) chordoma ?,"A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function. Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.",GHR,chordoma +How many people are affected by chordoma ?,"Chordomas are rare, occurring in approximately 1 per million individuals each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain and spinal cord.",GHR,chordoma +What are the genetic changes related to chordoma ?,"Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. In these individuals, the changes occur only in the tumor cells and are not inherited. The T gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors. The brachyury protein is especially important for the early development of the spine. In human embryos, a structure called the notochord is the precursor of the spinal column. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. In rare cases these cells begin to grow and divide uncontrollably, invading the nearby bone and soft tissue and resulting in the development of a chordoma. Duplications and increases in expression of the T gene both result in the production of excess brachyury protein. The specific mechanism by which excess brachyury protein contributes to the development of chordomas is unclear. Some people with chordoma do not have changes in the T gene, and the cause of the disorder in these individuals is unknown.",GHR,chordoma +Is chordoma inherited ?,"When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this condition, not the condition itself. Other cases of chordoma are sporadic, which means they occur in people with no history of the condition in their family.",GHR,chordoma +What are the treatments for chordoma ?,These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,chordoma +What is (are) Carney complex ?,"Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed. Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and ""coarse"" facial features. Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant). Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.",GHR,Carney complex +How many people are affected by Carney complex ?,Carney complex is a rare disorder; fewer than 750 affected individuals have been identified.,GHR,Carney complex +What are the genetic changes related to Carney complex ?,"Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off. Most mutations in the PRKAR1A gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body. Some individuals with Carney complex do not have identified mutations in the PRKAR1A gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.",GHR,Carney complex +Is Carney complex inherited ?,"Carney complex is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 80 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of Carney complex in their family.",GHR,Carney complex +What are the treatments for Carney complex ?,"These resources address the diagnosis or management of Carney complex: - Gene Review: Gene Review: Carney Complex - Genetic Testing Registry: Carney complex - Genetic Testing Registry: Carney complex, type 1 - Genetic Testing Registry: Carney complex, type 2 - MedlinePlus Encyclopedia: Atrial Myxoma - MedlinePlus Encyclopedia: Pituitary Tumor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Carney complex +What is (are) Smith-Lemli-Opitz syndrome ?,"Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.",GHR,Smith-Lemli-Opitz syndrome +How many people are affected by Smith-Lemli-Opitz syndrome ?,"Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations.",GHR,Smith-Lemli-Opitz syndrome +What are the genetic changes related to Smith-Lemli-Opitz syndrome ?,"Mutations in the DHCR7 gene cause Smith-Lemli-Opitz syndrome. The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. Mutations in the DHCR7 gene reduce or eliminate the activity of 7-dehydrocholesterol reductase, preventing cells from producing enough cholesterol. A lack of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the blood, nervous system, and other tissues. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of Smith-Lemli-Opitz syndrome.",GHR,Smith-Lemli-Opitz syndrome +Is Smith-Lemli-Opitz syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Smith-Lemli-Opitz syndrome +What are the treatments for Smith-Lemli-Opitz syndrome ?,These resources address the diagnosis or management of Smith-Lemli-Opitz syndrome: - Gene Review: Gene Review: Smith-Lemli-Opitz Syndrome - Genetic Testing Registry: Smith-Lemli-Opitz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Smith-Lemli-Opitz syndrome +What is (are) Swyer syndrome ?,"Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures. People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life. People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo. Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.",GHR,Swyer syndrome +How many people are affected by Swyer syndrome ?,"Swyer syndrome occurs in approximately 1 in 80,000 people.",GHR,Swyer syndrome +What are the genetic changes related to Swyer syndrome ?,"Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein starts processes that are involved in male sexual development. These processes cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures (uterus and fallopian tubes). SRY gene mutations that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. A fetus whose cells do not produce functional sex-determining region Y protein will not develop testes but will develop a uterus and fallopian tubes, despite having a typically male karyotype. Swyer syndrome can also be caused by mutations in the MAP3K1 gene; research indicates that mutations in this gene may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body. These include the processes of determining sexual characteristics before birth. The mutations in this gene that cause Swyer syndrome decrease signaling that leads to male sexual differentiation and enhance signaling that leads to female sexual differentiation, preventing the development of testes and allowing the development of a uterus and fallopian tubes. Mutations in the DHH and NR5A1 genes have also been identified in small numbers of people with Swyer syndrome. The DHH gene provides instructions for making a protein that is important for early development of tissues in many parts of the body. The NR5A1 gene provides instructions for producing another transcription factor called the steroidogenic factor 1 (SF1). This protein helps control the activity of several genes related to the production of sex hormones and sexual differentiation. Mutations in the DHH and NR5A1 genes affect the process of sexual differentiation, preventing affected individuals with a typically male karyotype from developing testes and causing them to develop a uterus and fallopian tubes. Changes affecting other genes have also been identified in a small number of people with Swyer syndrome. Nongenetic factors, such as hormonal medications taken by the mother during pregnancy, have also been associated with this condition. However, in most individuals with Swyer syndrome, the cause is unknown.",GHR,Swyer syndrome +Is Swyer syndrome inherited ?,"Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. SRY-related Swyer syndrome is usually caused by a new mutation. However, some individuals with Swyer syndrome inherit an altered SRY gene from an unaffected father who is mosaic for the mutation. Mosaic means that an individual has the mutation in some cells (including some reproductive cells) but not in others. In rare cases, a father may carry the mutation in every cell of the body but also has other genetic variations that prevent him from being affected by the condition. Because the SRY gene is on the Y chromosome, Swyer syndrome caused by SRY gene mutations is described as having a Y-linked inheritance pattern. When Swyer syndrome is associated with an MAP3K1 or NR5A1 gene mutation, the condition is also usually caused by a new mutation. In the rare inherited cases, the mutation may be inherited from either parent, since these genes are not on the Y chromosome. In these cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Swyer syndrome caused by mutations in the DHH gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of one copy of the altered gene. Female carriers of a DHH gene mutation generally have typical sex development. Male carriers of a DHH gene mutation may also be unaffected, or they may have genital differences such as the urethra opening on the underside of the penis (hypospadias).",GHR,Swyer syndrome +What are the treatments for Swyer syndrome ?,"These resources address the diagnosis or management of Swyer syndrome: - Gene Review: Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis - Genetic Testing Registry: Pure gonadal dysgenesis 46,XY - MedlinePlus Encyclopedia: Intersex - University College London Hospitals: Disorders of Sexual Development These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Swyer syndrome +What is (are) Williams syndrome ?,"Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.",GHR,Williams syndrome +How many people are affected by Williams syndrome ?,"Williams syndrome affects an estimated 1 in 7,500 to 10,000 people.",GHR,Williams syndrome +What are the genetic changes related to Williams syndrome ?,"Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown.",GHR,Williams syndrome +Is Williams syndrome inherited ?,"Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.",GHR,Williams syndrome +What are the treatments for Williams syndrome ?,These resources address the diagnosis or management of Williams syndrome: - Gene Review: Gene Review: Williams Syndrome - Genetic Testing Registry: Williams syndrome - MedlinePlus Encyclopedia: Williams Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Williams syndrome +What is (are) Bardet-Biedl syndrome ?,"Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening. Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.",GHR,Bardet-Biedl syndrome +How many people are affected by Bardet-Biedl syndrome ?,"In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13,500 newborns.",GHR,Bardet-Biedl syndrome +What are the genetic changes related to Bardet-Biedl syndrome ?,"Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). The proteins produced from BBS genes are involved in the maintenance and function of cilia. Mutations in BBS genes lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome. About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in the BBS10 gene. The other BBS genes each account for only a small percentage of all cases of this condition. In about 25 percent of people with Bardet-Biedl syndrome, the cause of the disorder is unknown. In affected individuals who have mutations in one of the BBS genes, mutations in additional genes may be involved in causing or modifying the course of the disorder. Studies suggest that these modifying genes may be known BBS genes or other genes. The additional genetic changes could help explain the variability in the signs and symptoms of Bardet-Biedl syndrome. However, this phenomenon appears to be uncommon, and it has not been found consistently in scientific studies.",GHR,Bardet-Biedl syndrome +Is Bardet-Biedl syndrome inherited ?,"Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bardet-Biedl syndrome +What are the treatments for Bardet-Biedl syndrome ?,These resources address the diagnosis or management of Bardet-Biedl syndrome: - Gene Review: Gene Review: Bardet-Biedl Syndrome - Genetic Testing Registry: Bardet-Biedl syndrome - MedlinePlus Encyclopedia: Obesity - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bardet-Biedl syndrome +What is (are) familial isolated hyperparathyroidism ?,"Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream. In people with familial isolated hyperparathyroidism, the production of excess parathyroid hormone is caused by tumors that involve the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, more than one gland develops a tumor. The tumors are usually noncancerous (benign), in which case they are called adenomas. Rarely, people with familial isolated hyperparathyroidism develop a cancerous tumor called parathyroid carcinoma. Because the production of excess parathyroid hormone is caused by abnormalities of the parathyroid glands, familial isolated hyperparathyroidism is considered a form of primary hyperparathyroidism. Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Because calcium is removed from bones to be released into the bloodstream, hyperparathyroidism often causes thinning of the bones (osteoporosis). The age at which familial isolated hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the first indication of the condition is elevated calcium levels identified through a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.",GHR,familial isolated hyperparathyroidism +How many people are affected by familial isolated hyperparathyroidism ?,The prevalence of familial isolated hyperparathyroidism is unknown.,GHR,familial isolated hyperparathyroidism +What are the genetic changes related to familial isolated hyperparathyroidism ?,"Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. In familial isolated hyperparathyroidism, MEN1 gene mutations result in an altered menin protein that is no longer able to control cell growth and division. The resulting increase in cell proliferation leads to the formation of an adenoma involving one or more parathyroid glands. Overproduction of parathyroid hormone from these abnormal glands stimulates the release of excess calcium into the blood, leading to the signs and symptoms of familial isolated hyperparathyroidism. It is unclear why this condition affects only the parathyroid glands. The CDC73 gene provides instructions for making the parafibromin protein, which is also thought to act as a tumor suppressor. Parafibromin is likely involved in regulating the activity of other genes (gene transcription) and in cell proliferation. CDC73 gene mutations that cause familial isolated hyperparathyroidism likely result in decreased activity of the parafibromin protein. The loss of parafibromin's tumor suppressor function can lead to the development of parathyroid adenoma or, rarely, parathyroid carcinoma. The CASR gene provides instructions for producing a protein called the calcium-sensing receptor (CaSR), which helps regulate the amount of calcium in the body, in part by controlling the production of parathyroid hormone. Calcium molecules attach (bind) to CaSR, turning on (activating) the receptor. When calcium binds to the CaSR protein in cells of the parathyroid gland, the activated receptor sends signals that block the production and release of parathyroid hormone. Without parathyroid hormone, calcium is not released into the blood. CASR gene mutations associated with familial isolated hyperparathyroidism lead to the production of a less sensitive CaSR that requires an abnormally high concentration of calcium to trigger signaling. As a result, parathyroid hormone is produced even when the concentration of calcium in the blood is elevated, allowing the calcium levels to continue to rise. A small number of individuals with CASR-related familial isolated hyperparathyroidism have enlarged parathyroid glands, and overproduction of parathyroid hormone from these abnormal glands further contributes to the elevated calcium levels in the bloodstream. The excess calcium causes the characteristic features of this condition. Mutations in the MEN1 gene and the CDC73 gene are involved in other conditions in which hyperparathyroidism is just one of many features. However, some people with mutations in these genes have only signs and symptoms related to hyperparathyroidism (isolated hyperparathyroidism) without the additional features of these other conditions. While some individuals later develop additional signs and symptoms of the other conditions, others do not. Familial isolated hyperparathyroidism may be a milder variant or early form of the other conditions. In many individuals with the signs and symptoms of familial isolated hyperparathyroidism, a mutation in the MEN1, CDC73, or CASR gene has not been identified, indicating that other genes may be involved in this condition. The genetic cause of these cases is unknown.",GHR,familial isolated hyperparathyroidism +Is familial isolated hyperparathyroidism inherited ?,"This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,familial isolated hyperparathyroidism +What are the treatments for familial isolated hyperparathyroidism ?,These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial isolated hyperparathyroidism +What is (are) benign recurrent intrahepatic cholestasis ?,"Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years. The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis. BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types. This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.",GHR,benign recurrent intrahepatic cholestasis +How many people are affected by benign recurrent intrahepatic cholestasis ?,"BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide.",GHR,benign recurrent intrahepatic cholestasis +What are the genetic changes related to benign recurrent intrahepatic cholestasis ?,"Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2. The factors that trigger episodes of BRIC are unknown. Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.",GHR,benign recurrent intrahepatic cholestasis +Is benign recurrent intrahepatic cholestasis inherited ?,"Both types of BRIC are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with BRIC have no family history of the disorder. These cases arise from mutations in the ATP8B1 or ABCB11 gene that occur in the body's cells after conception and are not inherited.",GHR,benign recurrent intrahepatic cholestasis +What are the treatments for benign recurrent intrahepatic cholestasis ?,These resources address the diagnosis or management of benign recurrent intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 1 - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 2 - Merck Manual Home Health Edition: Cholestasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,benign recurrent intrahepatic cholestasis +What is (are) Danon disease ?,"Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34. Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most affected men have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Other affected males have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected men with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Most women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Affected individuals can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). People with Danon disease are often affected by a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal myopathy occurs in most men with Danon disease and about half of affected women. The weakness typically occurs in the muscles of the upper arms, shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. Most men with Danon disease, but only a small percentage of affected women, have intellectual disability. If present, the disability is usually mild. There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.",GHR,Danon disease +How many people are affected by Danon disease ?,"Danon disease is a rare condition, but the exact prevalence is unknown.",GHR,Danon disease +What are the genetic changes related to Danon disease ?,"Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes. Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.",GHR,Danon disease +Is Danon disease inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Danon disease +What are the treatments for Danon disease ?,These resources address the diagnosis or management of Danon disease: - American Heart Association: Dilated Cardiomyopathy - Genetic Testing Registry: Danon disease - KidsHealth from Nemours: Getting an EKG - Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Danon disease +What is (are) horizontal gaze palsy with progressive scoliosis ?,"Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS, an abnormal side-to-side curvature of the spine develops in infancy or childhood. It tends to be moderate to severe and worsens over time. Because the abnormal spine position can be painful and interfere with movement, it is often treated with surgery early in life.",GHR,horizontal gaze palsy with progressive scoliosis +How many people are affected by horizontal gaze palsy with progressive scoliosis ?,HGPPS has been reported in several dozen families worldwide.,GHR,horizontal gaze palsy with progressive scoliosis +What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ?,"HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input (such as touch, pain, and temperature). For the brain and the body to communicate effectively, these nerve pathways must cross from one side of the body to the other in the brainstem, a region that connects the upper parts of the brain with the spinal cord. The ROBO3 protein plays a critical role in ensuring that motor and sensory nerve pathways cross over in the brainstem. In people with HGPPS, these pathways do not cross over, but stay on the same side of the body. Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of progressive scoliosis in HGPPS is unclear. Researchers are working to determine why the effects of ROBO3 mutations appear to be limited to horizontal eye movement and scoliosis.",GHR,horizontal gaze palsy with progressive scoliosis +Is horizontal gaze palsy with progressive scoliosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,horizontal gaze palsy with progressive scoliosis +What are the treatments for horizontal gaze palsy with progressive scoliosis ?,"These resources address the diagnosis or management of HGPPS: - Genetic Testing Registry: Gaze palsy, familial horizontal, with progressive scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,horizontal gaze palsy with progressive scoliosis +What is (are) familial restrictive cardiomyopathy ?,"Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles). In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed. Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.",GHR,familial restrictive cardiomyopathy +How many people are affected by familial restrictive cardiomyopathy ?,"The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired contraction. In the United States and in Europe, restrictive cardiomyopathy accounts for less than five percent of all cardiomyopathies. The proportion of restrictive cardiomyopathy that runs in families is not known.",GHR,familial restrictive cardiomyopathy +What are the genetic changes related to familial restrictive cardiomyopathy ?,"Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three proteins that make up the troponin protein complex, which helps regulate tensing (contraction) and relaxation of the heart muscle. TNNI3 gene mutations associated with familial restrictive cardiomyopathy result in the production of a defective cardiac troponin I protein. The altered protein disrupts the function of the troponin protein complex and does not allow the heart muscle to fully relax. As a result, not enough blood enters the ventricles, leading to a buildup in the atria and lungs. The abnormal heart relaxation and blood flow is responsible for many of the signs and symptoms of familial restrictive cardiomyopathy. Mutations in other genes associated with familial restrictive cardiomyopathy each account for a small percentage of cases of this condition. Some people with familial restrictive cardiomyopathy do not have an identified mutation in any of the known associated genes. The cause of the disorder in these individuals is unknown.",GHR,familial restrictive cardiomyopathy +Is familial restrictive cardiomyopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,familial restrictive cardiomyopathy +What are the treatments for familial restrictive cardiomyopathy ?,These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: Familial restrictive cardiomyopathy 3 - Johns Hopkins Medicine: Cardiomyopathy/Heart Failure - MedlinePlus Encyclopedia: Restrictive Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial restrictive cardiomyopathy +What is (are) early-onset glaucoma ?,"Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term ""early-onset glaucoma"" may be used when the disorder appears before the age of 40. In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes. Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity. Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.",GHR,early-onset glaucoma +How many people are affected by early-onset glaucoma ?,"Primary congenital glaucoma affects approximately 1 in 10,000 people. Its frequency is higher in the Middle East. Juvenile open-angle glaucoma affects about 1 in 50,000 people. Primary open-angle glaucoma is much more common after the age of 40, affecting about 1 percent of the population worldwide.",GHR,early-onset glaucoma +What are the genetic changes related to early-onset glaucoma ?,"Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the intraocular pressure. Researchers believe that myocilin functions together with other proteins as part of a protein complex. Mutations may alter the protein in such a way that the complex cannot be formed. Defective myocilin that is not incorporated into functional complexes may accumulate in the trabecular meshwork and ciliary body. The excess protein may prevent sufficient flow of fluid from the eye, resulting in increased intraocular pressure and causing the signs and symptoms of early-onset glaucoma. Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. CYP1B1 gene mutations have also been detected in some people with juvenile open-angle glaucoma. The CYP1B1 gene provides instructions for producing a form of the cytochrome P450 protein. Like myocilin, this protein is found in the trabecular meshwork, ciliary body, and other structures of the eye. It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork. In the clear covering of the eye (the cornea), the CYP1B1 protein may also be involved in a process that regulates the secretion of fluid inside the eye. If this fluid is produced in excess, the high intraocular pressure characteristic of glaucoma may develop. The CYP1B1 protein may interact with myocilin. Individuals with mutations in both the MYOC and CYP1B1 genes may develop glaucoma at an earlier age and have more severe symptoms than do those with mutations in only one of the genes. Mutations in other genes may also be involved in early-onset glaucoma.",GHR,early-onset glaucoma +Is early-onset glaucoma inherited ?,"Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Juvenile open-angle glaucoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some families, primary congenital glaucoma may also be inherited in an autosomal dominant pattern.",GHR,early-onset glaucoma +What are the treatments for early-onset glaucoma ?,"These resources address the diagnosis or management of early-onset glaucoma: - Gene Review: Gene Review: Primary Congenital Glaucoma - Genetic Testing Registry: Glaucoma, congenital - Genetic Testing Registry: Primary open angle glaucoma juvenile onset 1 - MedlinePlus Encyclopedia: Glaucoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,early-onset glaucoma +What is (are) oculopharyngeal muscular dystrophy ?,"Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles. Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance. There are two types of oculopharyngeal muscular dystrophy, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types.",GHR,oculopharyngeal muscular dystrophy +How many people are affected by oculopharyngeal muscular dystrophy ?,"In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculopharyngeal muscular dystrophy is also seen more frequently in the Bukharan (Central Asian) Jewish population of Israel, affecting 1 in 600 people. The autosomal recessive form of this condition is very rare; only a few cases of autosomal recessive oculopharyngeal muscular dystrophy have been identified.",GHR,oculopharyngeal muscular dystrophy +What are the genetic changes related to oculopharyngeal muscular dystrophy ?,"Mutations in the PABPN1 gene cause oculopharyngeal muscular dystrophy. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein alters a region at the end of the mRNA molecule that protects the mRNA from being broken down and allows it to move within the cell. The PABPN1 protein contains an area where the protein building block (amino acid) alanine is repeated 10 times. This stretch of alanines is known as a polyalanine tract. The role of the polyalanine tract in normal PABPN1 protein function is unknown. Mutations in the PABPN1 gene that cause oculopharyngeal muscular dystrophy result in a PABPN1 protein that has an extended polyalanine tract. The extra alanines cause the PABPN1 protein to form clumps within muscle cells that accumulate because they cannot be broken down. These clumps (called intranuclear inclusions) are thought to impair the normal functioning of muscle cells and eventually cause cell death. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with oculopharyngeal muscular dystrophy. It is not known why dysfunctional PABPN1 proteins seem to affect only certain muscle cells.",GHR,oculopharyngeal muscular dystrophy +Is oculopharyngeal muscular dystrophy inherited ?,"Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded polyalanine tract of between 12 and 17 alanines. Less commonly, oculopharyngeal muscular dystrophy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In autosomal recessive oculopharyngeal muscular dystrophy, PABPN1 mutations lead to a polyalanine tract that is 11 alanines long. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,oculopharyngeal muscular dystrophy +What are the treatments for oculopharyngeal muscular dystrophy ?,These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,oculopharyngeal muscular dystrophy +What is (are) late-infantile neuronal ceroid lipofuscinosis ?,"Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens. Late-infantile NCL is one of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.",GHR,late-infantile neuronal ceroid lipofuscinosis +How many people are affected by late-infantile neuronal ceroid lipofuscinosis ?,"The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.",GHR,late-infantile neuronal ceroid lipofuscinosis +What are the genetic changes related to late-infantile neuronal ceroid lipofuscinosis ?,"Mutations in the TPP1 gene cause most cases of late-infantile NCL. Mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes each account for a small percentage of cases. The TPP1 gene produces an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. Tripeptidyl peptidase 1 breaks down protein fragments, known as peptides, into their individual building blocks (amino acids). The proteins produced from the other genes involved in this condition are active either in lysosomes or in another cell compartment called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Within these cell structures, the proteins largely play roles in the breakdown of other proteins or substances. Mutations in the TPP1, CLN5, CLN6, CLN8, MFSD8, or PPT1 gene usually reduce the production or activity of the particular protein or enzyme made from the gene. In many cases, a reduction in functional protein or enzyme results in incomplete breakdown of certain proteins and other materials. These materials accumulate in the lysosome forming fatty substances called lipopigments. In some cases, it is unclear what causes the buildup of lipopigments. In late-infantile NCL, these accumulations occur in cells throughout the body, but neurons seem particularly vulnerable to damage caused by lipopigments and a decrease in specific protein function. The progressive death of cells in the brain and other tissues leads to the signs and symptoms of late-infantile NCL.",GHR,late-infantile neuronal ceroid lipofuscinosis +Is late-infantile neuronal ceroid lipofuscinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,late-infantile neuronal ceroid lipofuscinosis +What are the treatments for late-infantile neuronal ceroid lipofuscinosis ?,These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 7 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 8 - Genetic Testing Registry: Late-infantile neuronal ceroid lipofuscinosis - Genetic Testing Registry: Neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,late-infantile neuronal ceroid lipofuscinosis +What is (are) adenine phosphoribosyltransferase deficiency ?,"Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine. Affected individuals can develop features of this condition anytime from infancy to late adulthood. When the condition appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones. Later, recurrent kidney and urinary tract stones can lead to problems with kidney function beginning as early as mid- to late childhood. Approximately half of individuals with APRT deficiency first experience signs and symptoms of the condition in adulthood. The first features in affected adults are usually kidney stones and related urinary problems. Other signs and symptoms of APRT deficiency caused by kidney and urinary tract stones include fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting. Without treatment, kidney function can decline, which may lead to end-stage renal disease (ESRD). ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. The features of this condition and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition.",GHR,adenine phosphoribosyltransferase deficiency +How many people are affected by adenine phosphoribosyltransferase deficiency ?,"APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The condition is rarer in Europe, where it is thought to affect 1 in 50,000 to 100,000 people. The prevalence of APRT deficiency outside these populations is unknown.",GHR,adenine phosphoribosyltransferase deficiency +What are the genetic changes related to adenine phosphoribosyltransferase deficiency ?,"Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mutations lead to the production of an abnormal APRT enzyme with reduced function or prevent the production of any enzyme. A lack of functional enzyme impairs the conversion of adenine to AMP. As a result, adenine is converted to another molecule called 2,8-dihydroxyadenine (2,8-DHA). 2,8-DHA crystallizes in urine, forming stones in the kidneys and urinary tract. 2,8-DHA crystals are brownish in color, which explains why affected infants frequently have dark urine stains in their diapers. 2,8-DHA is toxic to kidneys, which may explain the possible decline in kidney function and the progression to ESRD.",GHR,adenine phosphoribosyltransferase deficiency +Is adenine phosphoribosyltransferase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,adenine phosphoribosyltransferase deficiency +What are the treatments for adenine phosphoribosyltransferase deficiency ?,These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adenine phosphoribosyltransferase deficiency +What is (are) familial paroxysmal nonkinesigenic dyskinesia ?,"Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body. People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that develop without a known cause or are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesias can include slow, prolonged contraction of muscles (dystonia); small, fast, ""dance-like"" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). Dyskinesias also affect muscles in the trunk and face. The type of abnormal movement varies among affected individuals, even among members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any other neurological symptoms between episodes. Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1-4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.",GHR,familial paroxysmal nonkinesigenic dyskinesia +How many people are affected by familial paroxysmal nonkinesigenic dyskinesia ?,Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its prevalence is estimated to be 1 in 5 million people.,GHR,familial paroxysmal nonkinesigenic dyskinesia +What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ?,"Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical has a toxic effect on nerve cells (neurons). It remains unclear if the PNKD gene is related to the breakdown of methlglyoxal. How mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia is also unknown.",GHR,familial paroxysmal nonkinesigenic dyskinesia +Is familial paroxysmal nonkinesigenic dyskinesia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has inherited the mutation from one parent.",GHR,familial paroxysmal nonkinesigenic dyskinesia +What are the treatments for familial paroxysmal nonkinesigenic dyskinesia ?,These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Registry: Paroxysmal nonkinesigenic dyskinesia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial paroxysmal nonkinesigenic dyskinesia +What is (are) CHARGE syndrome ?,"CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. The major characteristics of CHARGE syndrome are more specific to this disorder than are the minor characteristics. Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person's vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individuals with CHARGE syndrome frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities and unusually shaped ears. The minor characteristics of CHARGE syndrome are not specific to this disorder; they are frequently present in people without CHARGE syndrome. The minor characteristics include heart defects, slow growth starting in late infancy, developmental delay, and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Males are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). External genitalia abnormalities are seen less often in females with CHARGE syndrome. Puberty can be incomplete or delayed. Individuals may have a tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. People with CHARGE syndrome also have distinctive facial features, including a square-shaped face and difference in the appearance between the right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication.",GHR,CHARGE syndrome +How many people are affected by CHARGE syndrome ?,"CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 individuals.",GHR,CHARGE syndrome +What are the genetic changes related to CHARGE syndrome ?,"Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Most mutations in the CHD7 gene lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. Researchers suspect that other genetic and environmental factors may be involved in these individuals.",GHR,CHARGE syndrome +Is CHARGE syndrome inherited ?,"CHARGE syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits the mutation from an affected parent.",GHR,CHARGE syndrome +What are the treatments for CHARGE syndrome ?,These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - MedlinePlus Encyclopedia: Facial Paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,CHARGE syndrome +What is (are) Romano-Ward syndrome ?,"Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (syncope) or cardiac arrest and sudden death.",GHR,Romano-Ward syndrome +How many people are affected by Romano-Ward syndrome ?,"Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed.",GHR,Romano-Ward syndrome +What are the genetic changes related to Romano-Ward syndrome ?,"Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of these channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome. Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not provide instructions for making an ion channel. The ANK2 protein, ankyrin-2, ensures that certain other proteins (particularly ion channels) are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm. ANK2 mutations can cause a variety of heart problems, including the irregular heartbeat often found in Romano-Ward syndrome. It is unclear whether mutations in the ANK2 gene cause Romano-Ward syndrome or lead to another heart condition with some of the same signs and symptoms.",GHR,Romano-Ward syndrome +Is Romano-Ward syndrome inherited ?,"This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes described above. These cases occur in people with no history of Romano-Ward syndrome in their family.",GHR,Romano-Ward syndrome +What are the treatments for Romano-Ward syndrome ?,These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Romano-Ward syndrome +What is (are) vitamin D-dependent rickets ?,"Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures. In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. Both VDDR1 and VDDR2 are characterized by low levels of the minerals calcium (hypocalcemia) and phosphate (hypophosphatemia), which are essential for the normal formation of bones and teeth. Affected individuals also have high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. The two forms of vitamin D-dependent rickets can be distinguished by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1 have abnormally low levels of calcitriol and individuals with VDDR2 have abnormally high levels. Hair loss (alopecia) can occur in VDDR2, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.",GHR,vitamin D-dependent rickets +How many people are affected by vitamin D-dependent rickets ?,"Rickets affects an estimated 1 in 200,000 children. The condition is most often caused by a lack of vitamin D in the diet or insufficient sun exposure rather than genetic mutations; genetic forms of rickets, including VDDR1 and VDDR2, are much less common. The prevalence of VDDR1 and VDDR2 is unknown. VDDR1 is more common in the French Canadian population than in other populations.",GHR,vitamin D-dependent rickets +What are the genetic changes related to vitamin D-dependent rickets ?,"The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of sunlight. Vitamin D helps maintain the proper balance of several minerals in the body, including calcium and phosphate. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1-hydroxylase). This enzyme carries out the final reaction to convert vitamin D to its active form, calcitriol. Once converted, calcitriol attaches (binds) to a protein called vitamin D receptor (VDR), which is produced from the VDR gene. The resulting calcitriol-VDR complex then binds to particular regions of DNA and regulates the activity of vitamin D-responsive genes. By turning these genes on or off, VDR helps control the absorption of calcium and phosphate and other processes that regulate calcium levels in the body. VDR is also involved in hair growth through a process that does not require calcitriol binding. Mutations in either of these genes prevent the body from responding to vitamin D. CYP27B1 gene mutations reduce or eliminate 1-hydroxylase activity, which means vitamin D is not converted to its active form. The absence of calcitriol means vitamin D-responsive genes are not turned on (activated). VDR gene mutations alter the vitamin D receptor so that it cannot regulate gene activity, regardless of the presence of calcitriol in the body; often the altered receptor cannot interact with calcitriol or with DNA. Without activation of vitamin D-responsive genes, absorption of calcium and phosphate falls, leading to hypocalcemia and hypophosphatemia. The lack of calcium and phosphate slows the deposition of these minerals in developing bones (bone mineralization), which leads to soft, weak bones and other features of vitamin D-dependent rickets. Low levels of calcium stimulate production of PTH, resulting in secondary hyperparathyroidism; hypocalcemia can also cause muscle weakness and seizures in individuals with vitamin D-dependent rickets. Certain abnormalities in the VDR protein also impair hair growth, causing alopecia in some people with VDDR2.",GHR,vitamin D-dependent rickets +Is vitamin D-dependent rickets inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,vitamin D-dependent rickets +What are the treatments for vitamin D-dependent rickets ?,"These resources address the diagnosis or management of vitamin D-dependent rickets: - Genetic Testing Registry: Vitamin D-dependent rickets, type 1 - Genetic Testing Registry: Vitamin D-dependent rickets, type 2 - Genetic Testing Registry: Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,vitamin D-dependent rickets +What is (are) megalencephaly-capillary malformation syndrome ?,"Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as those known as Chiari malformation and polymicrogyria. Abnormal brain development leads to intellectual disability in most affected individuals and can also cause seizures or weak muscle tone (hypotonia). In particular, polymicrogyria is associated with speech delays and difficulty chewing and swallowing. The capillary malformations characteristic of MCAP are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations usually look like pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, particularly the nose, the upper lip, and the area between the nose and upper lip (the philtrum). In other people with MCAP, the malformations appear as patches spread over the body or as a reddish net-like pattern on the skin (cutis marmorata). In some people with MCAP, excessive growth affects not only the brain but other individual parts of the body, which is known as segmental overgrowth. This can lead to one arm or leg that is bigger or longer than the other or a few oversized fingers or toes. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly). Additional features of MCAP can include flexible joints and skin that stretches easily. Some affected individuals are said to have doughy skin because the tissue under the skin is unusually thick and soft. The gene involved in MCAP is also associated with several types of cancer. Although a small number of individuals with MCAP have developed tumors (in particular, a childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in the nervous system known as meningiomas), people with MCAP do not appear to have a greater risk of developing cancer than the general population.",GHR,megalencephaly-capillary malformation syndrome +How many people are affected by megalencephaly-capillary malformation syndrome ?,"The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported.",GHR,megalencephaly-capillary malformation syndrome +What are the genetic changes related to megalencephaly-capillary malformation syndrome ?,"MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body, including the brain and blood vessels. PIK3CA gene mutations involved in MCAP alter the p110 protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to the overgrowth of the brain, blood vessels, and other organs and tissues characteristic of MCAP.",GHR,megalencephaly-capillary malformation syndrome +Is megalencephaly-capillary malformation syndrome inherited ?,"MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.",GHR,megalencephaly-capillary malformation syndrome +What are the treatments for megalencephaly-capillary malformation syndrome ?,These resources address the diagnosis or management of megalencephaly-capillary malformation syndrome: - Contact a Family - Gene Review: Gene Review: PIK3CA-Related Segmental Overgrowth - Genetic Testing Registry: Megalencephaly cutis marmorata telangiectatica congenita - M-CM Network: How is M-CM Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,megalencephaly-capillary malformation syndrome +What is (are) trichohepatoenteric syndrome ?,"Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life. Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa. Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as ""coarse."" Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition. Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.",GHR,trichohepatoenteric syndrome +How many people are affected by trichohepatoenteric syndrome ?,Trichohepatoenteric syndrome is a rare condition with an estimated prevalence of about 1 in 1 million people. At least 44 cases have been reported in the medical literature.,GHR,trichohepatoenteric syndrome +What are the genetic changes related to trichohepatoenteric syndrome ?,"Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes provide instructions for making proteins whose functions have not been confirmed. Researchers speculate that they work together with other proteins within cells to help recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that getting rid of excess and abnormal mRNA is important for cell growth. Mutations in the TTC37 or SKIV2L gene likely eliminate the function of their respective proteins, which is hypothesized to impair the breakdown of unneeded mRNA. However, it is unknown how these changes could lead to chronic diarrhea and the other features of trichohepatoenteric syndrome.",GHR,trichohepatoenteric syndrome +Is trichohepatoenteric syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,trichohepatoenteric syndrome +What are the treatments for trichohepatoenteric syndrome ?,These resources address the diagnosis or management of trichohepatoenteric syndrome: - American Society for Parenteral and Enteral Nutrition: What is Parenteral Nutrition? - Genetic Testing Registry: Trichohepatoenteric syndrome - Genetic Testing Registry: Trichohepatoenteric syndrome 2 - MedlinePlus Health Topic: Nutritional Support These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,trichohepatoenteric syndrome +What is (are) Peutz-Jeghers syndrome ?,"Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.",GHR,Peutz-Jeghers syndrome +How many people are affected by Peutz-Jeghers syndrome ?,"The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals.",GHR,Peutz-Jeghers syndrome +What are the genetic changes related to Peutz-Jeghers syndrome ?,"Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. The resulting uncontrolled cell growth leads to the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome. A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.",GHR,Peutz-Jeghers syndrome +Is Peutz-Jeghers syndrome inherited ?,"Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new (de novo) mutations in the STK11 gene.",GHR,Peutz-Jeghers syndrome +What are the treatments for Peutz-Jeghers syndrome ?,These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Peutz-Jeghers syndrome +What is (are) mucolipidosis II alpha/beta ?,"Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after birth and usually stop growing during the second year of life. Development is delayed, particularly the development of speech and motor skills such as sitting and standing. Children with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. Affected individuals may have an abnormally rounded upper back (kyphosis), feet that are abnormally rotated (clubfeet), dislocated hips, unusually shaped long bones, and short hands and fingers. People with this condition also have joint deformities (contractures) that significantly affect mobility. Most children with mucolipidosis II alpha/beta do not develop the ability to walk independently. Affected individuals have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Other features of mucolipidosis II alpha/beta include a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as ""coarse,"" and overgrowth of the gums (gingival hypertrophy). Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss.",GHR,mucolipidosis II alpha/beta +How many people are affected by mucolipidosis II alpha/beta ?,"Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.",GHR,mucolipidosis II alpha/beta +What are the genetic changes related to mucolipidosis II alpha/beta ?,"Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often ""tagged"" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTAB gene that cause mucolipidosis II alpha/beta prevent the production of any functional GlcNAc-1-phosphotransferase. Without this enzyme, digestive enzymes cannot be tagged with M6P and transported to lysosomes. Instead, they end up outside the cell and have increased digestive activity. The lack of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis II alpha/beta are most likely caused by the lack of digestive enzymes within lysosomes and the effects these enzymes have outside the cell. Mutations in the GNPTAB gene can also cause a similar but milder disorder called mucolipidosis III alpha/beta. Instead of preventing the production of any enzyme, these mutations reduce the activity of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.",GHR,mucolipidosis II alpha/beta +Is mucolipidosis II alpha/beta inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucolipidosis II alpha/beta +What are the treatments for mucolipidosis II alpha/beta ?,These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucolipidosis II alpha/beta +What is (are) hereditary hemorrhagic telangiectasia ?,"Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart. In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia). Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs. Forms of hereditary hemorrhagic telangiectasia include type 1, type 2, type 3, and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Types 1, 2 and 3 do not appear to increase the likelihood of such polyps.",GHR,hereditary hemorrhagic telangiectasia +How many people are affected by hereditary hemorrhagic telangiectasia ?,"The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many ethnic groups around the world. It is believed to affect between 1 in 5,000 and 1 in 10,000 people.",GHR,hereditary hemorrhagic telangiectasia +What are the genetic changes related to hereditary hemorrhagic telangiectasia ?,"Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development. The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5. Mutations in these genes generally prevent the production of the associated protein, or result in the production of a defective protein that cannot fulfill its function. An individual with a mutated gene will therefore have a reduced amount of the functional protein available in the tissue lining the blood vessels. This deficiency is believed to result in the signs and symptoms of hereditary hemorrhagic telangiectasia.",GHR,hereditary hemorrhagic telangiectasia +Is hereditary hemorrhagic telangiectasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary hemorrhagic telangiectasia +What are the treatments for hereditary hemorrhagic telangiectasia ?,These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia: - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 4 - Genetic Testing Registry: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome - Genetic Testing Registry: Osler hemorrhagic telangiectasia syndrome - MedlinePlus Encyclopedia: Osler-Weber-Rendu syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary hemorrhagic telangiectasia +"What is (are) 47,XYY syndrome ?","47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men. A small percentage of males with 47,XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.",GHR,"47,XYY syndrome" +"How many people are affected by 47,XYY syndrome ?","This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day.",GHR,"47,XYY syndrome" +"What are the genetic changes related to 47,XYY syndrome ?","People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. As a result of the extra Y chromosome, each cell has a total of 47 chromosomes instead of the usual 46. It is unclear why an extra copy of the Y chromosome is associated with tall stature, learning problems, and other features in some boys and men. Some males with 47,XYY syndrome have an extra Y chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism.",GHR,"47,XYY syndrome" +"Is 47,XYY syndrome inherited ?","Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. 46,XY/47,XYY mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have one X chromosome and one Y chromosome (46,XY), and other cells have one X chromosome and two Y chromosomes (47,XYY).",GHR,"47,XYY syndrome" +"What are the treatments for 47,XYY syndrome ?","These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"47,XYY syndrome" +What is (are) moyamoya disease ?,"Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: ""moyamoya"" is an expression meaning ""something hazy like a puff of smoke"" in Japanese. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.",GHR,moyamoya disease +How many people are affected by moyamoya disease ?,"Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For unknown reasons, moyamoya disease occurs twice as often in females as in males.",GHR,moyamoya disease +What are the genetic changes related to moyamoya disease ?,"The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. It is also likely that other factors (such as infection or inflammation) in combination with genetic factors play a role in the condition's development. The RNF213 gene provides instructions for making a protein whose function is unknown. However, research suggests that the RNF213 protein is involved in the proper development of blood vessels. Changes in the RNF213 gene involved in moyamoya disease replace single protein building blocks (amino acids) in the RNF213 protein. The effect of these changes on the function of the RNF213 protein is unknown, and researchers are unsure how the changes contribute to the narrowing of blood vessels or the characteristic blood vessel growth of moyamoya disease. For unknown reasons, people with moyamoya disease have elevated levels of proteins involved in cell and tissue growth, including the growth of blood vessels (angiogenesis). An excess of these proteins could account for the growth of new blood vessels characteristic of moyamoya disease. It is not clear if changes in the RNF213 gene are involved in the overproduction of these proteins.",GHR,moyamoya disease +Is moyamoya disease inherited ?,"Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who have a copy of the altered gene never develop the condition, which is a situation known as reduced penetrance.",GHR,moyamoya disease +What are the treatments for moyamoya disease ?,These resources address the diagnosis or management of moyamoya disease: - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease? - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease - Genetic Testing Registry: Moyamoya disease - Genetic Testing Registry: Moyamoya disease 2 - Genetic Testing Registry: Moyamoya disease 3 - Genetic Testing Registry: Moyamoya disease 5 - National Institute of Neurological Disorders and Stroke: Moyamoya Disease Information Page These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,moyamoya disease +What is (are) myotonic dystrophy ?,"Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw. Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family. There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes. A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.",GHR,myotonic dystrophy +How many people are affected by myotonic dystrophy ?,"Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.",GHR,myotonic dystrophy +What are the genetic changes related to myotonic dystrophy ?,"Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). The protein produced from the CNBP gene is found primarily in the heart and in skeletal muscles, where it probably helps regulate the function of other genes. Similar changes in the structure of the DMPK and CNBP genes cause the two forms of myotonic dystrophy. In each case, a segment of DNA is abnormally repeated many times, forming an unstable region in the gene. The mutated gene produces an expanded version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. The abnormally long messenger RNA forms clumps inside the cell that interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning normally, which leads to the signs and symptoms of myotonic dystrophy.",GHR,myotonic dystrophy +Is myotonic dystrophy inherited ?,"Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon, called anticipation, has been reported with both types of myotonic dystrophy. However, the evidence for anticipation appears to be strongest in myotonic dystrophy type 1. In this form of the disorder, anticipation is caused by an increase in the length of the unstable region in the DMPK gene. It is less clear whether anticipation occurs in myotonic dystrophy type 2, and the mechanism is unknown. A longer unstable region in the CNBP gene does not appear to influence the age of onset of the disorder.",GHR,myotonic dystrophy +What are the treatments for myotonic dystrophy ?,These resources address the diagnosis or management of myotonic dystrophy: - Gene Review: Gene Review: Myotonic Dystrophy Type 1 - Gene Review: Gene Review: Myotonic Dystrophy Type 2 - Genetic Testing Registry: Myotonic dystrophy type 2 - Genetic Testing Registry: Steinert myotonic dystrophy syndrome - MedlinePlus Encyclopedia: Muscular Dystrophy - University of Washington: Myotonic Dystrophy: Making an Informed Choice About Genetic Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myotonic dystrophy +What is (are) pseudoxanthoma elasticum ?,"Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss. Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.",GHR,pseudoxanthoma elasticum +How many people are affected by pseudoxanthoma elasticum ?,"PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.",GHR,pseudoxanthoma elasticum +What are the genetic changes related to pseudoxanthoma elasticum ?,"Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium and other minerals in the body. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to PXE. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium and other minerals accumulate in elastic fibers of the skin, eyes, blood vessels and other tissues affected by PXE. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium and other minerals characteristic of PXE.",GHR,pseudoxanthoma elasticum +Is pseudoxanthoma elasticum inherited ?,"PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder and the mutation is typically inherited from one affected parent. In these cases of PXE, however, the parent without apparent symptoms has an ABCC6 gene mutation. The affected offspring inherits two altered genes, one from each parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.",GHR,pseudoxanthoma elasticum +What are the treatments for pseudoxanthoma elasticum ?,These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pseudoxanthoma elasticum +What is (are) myotonia congenita ?,"Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.",GHR,myotonia congenita +How many people are affected by myotonia congenita ?,"Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people.",GHR,myotonia congenita +What are the genetic changes related to myotonia congenita ?,"Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of charged atoms (ions) into and out of muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow of negatively charged chlorine atoms (chloride ions) into these cells. The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally. Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia.",GHR,myotonia congenita +Is myotonia congenita inherited ?,"The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Becker disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Because several CLCN1 mutations can cause either Becker disease or Thomsen disease, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita.",GHR,myotonia congenita +What are the treatments for myotonia congenita ?,"These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal recessive form - Genetic Testing Registry: Myotonia congenita - MedlinePlus Encyclopedia: Myotonia congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,myotonia congenita +What is (are) core binding factor acute myeloid leukemia ?,"Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets. People with CBF-AML have a shortage of all types of mature blood cells: a shortage of white blood cells (leukopenia) leads to increased susceptibility to infections, a low number of red blood cells (anemia) causes fatigue and weakness, and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. Other symptoms of CBF-AML may include fever and weight loss. While acute myeloid leukemia is generally a disease of older adults, CBF-AML often begins in young adulthood and can occur in childhood. Compared to other forms of acute myeloid leukemia, CBF-AML has a relatively good prognosis: about 90 percent of individuals with CBF-AML recover from their disease following treatment, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, the disease recurs in approximately half of them after successful treatment of the initial occurrence.",GHR,core binding factor acute myeloid leukemia +How many people are affected by core binding factor acute myeloid leukemia ?,"Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults.",GHR,core binding factor acute myeloid leukemia +What are the genetic changes related to core binding factor acute myeloid leukemia ?,"CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). CBF attaches to certain regions of DNA and turns on genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells. Chromosomal rearrangements involving the RUNX1 or CBFB gene alter CBF, leading to leukemia. In CBF-AML, the RUNX1 gene is affected by a type of genetic rearrangement known as a translocation; in this type of change, pieces of DNA from two chromosomes break off and are interchanged. The most common translocation in this condition, called t(8;21), fuses a part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 gene (also known as ETO) on chromosome 8. The combination of these genes leads to production of the RUNX1-ETO fusion protein. This fusion protein is able to form CBF and attach to DNA, like the normal RUNX1 protein. However, because the function of the protein produced from the normal RUNX1T1 gene is to block gene activity, the abnormal CBF turns genes off instead of turning them on. Other genetic rearrangements associated with CBF-AML alter the CBFB gene. One such rearrangement, called an inversion, involves breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. The inversion involved in CBF-AML (written as inv(16)) leads to the fusion of two genes on chromosome 16, CBFB and MYH11. Less commonly, a translocation involving chromosome 16, written as t(16;16), leads to the fusion of the same two genes. The protein produced from these genetic rearrangements is called CBF-MYH11. The fusion protein can form CBF, but it is thought that the presence of the MYH11 portion of the fusion protein prevents CBF from binding to DNA, impairing its ability to control gene activity. Alternatively, the MYH11 portion may interact with other proteins that prevent CBF from controlling gene activity. The change in gene activity caused by alteration of CBF blocks the maturation (differentiation) of blood cells and leads to the production of abnormal myeloid blasts. However, a chromosomal rearrangement alone is usually not enough to cause leukemia; one or more additional genetic changes are needed for cancer to develop. The additional changes likely cause the immature cells to grow and divide uncontrollably, leading to the excess of myeloid blasts characteristic of CBF-AML.",GHR,core binding factor acute myeloid leukemia +Is core binding factor acute myeloid leukemia inherited ?,CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception.,GHR,core binding factor acute myeloid leukemia +What are the treatments for core binding factor acute myeloid leukemia ?,These resources address the diagnosis or management of core binding factor acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - Genetic Testing Registry: Acute myeloid leukemia - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,core binding factor acute myeloid leukemia +What is (are) gnathodiaphyseal dysplasia ?,"Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause. While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder. Jaw problems are common in gnathodiaphyseal dysplasia; the prefix ""gnatho-"" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life. When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.",GHR,gnathodiaphyseal dysplasia +How many people are affected by gnathodiaphyseal dysplasia ?,"The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature.",GHR,gnathodiaphyseal dysplasia +What are the genetic changes related to gnathodiaphyseal dysplasia ?,"Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear. The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.",GHR,gnathodiaphyseal dysplasia +Is gnathodiaphyseal dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,gnathodiaphyseal dysplasia +What are the treatments for gnathodiaphyseal dysplasia ?,These resources address the diagnosis or management of gnathodiaphyseal dysplasia: - Cleveland Clinic: Osteomyelitis - MedlinePlus Encyclopedia: Bone Mineral Density Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,gnathodiaphyseal dysplasia +What is (are) Adams-Oliver syndrome ?,"Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area. Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing. Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals. In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.",GHR,Adams-Oliver syndrome +How many people are affected by Adams-Oliver syndrome ?,Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.,GHR,Adams-Oliver syndrome +What are the genetic changes related to Adams-Oliver syndrome ?,"Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important role during embryonic development, and changes in any one of them can impair this tightly controlled process, leading to the signs and symptoms of Adams-Oliver syndrome. The proteins produced from the ARHGAP31 and DOCK6 genes are both involved in the regulation of proteins called GTPases, which transmit signals that are critical for various aspects of embryonic development. The ARHGAP31 and DOCK6 proteins appear to be especially important for GTPase regulation during development of the limbs, skull, and heart. GTPases are often called molecular switches because they can be turned on and off. The DOCK6 protein turns them on, and the ARHGAP31 protein turns them off. Mutations in the DOCK6 gene lead to production of an abnormally short DOCK6 protein that is likely unable to turn on GTPases, which reduces their activity. Mutations in the ARHGAP31 gene also decrease GTPase activity by leading to production of an abnormally active ARHGAP31 protein, which turns off GTPases when it normally would not. This decline in GTPase activity leads to the skin problems, bone malformations, and other features characteristic of Adams-Oliver syndrome. The proteins produced from the NOTCH1, DLL4, and RBPJ genes are part of a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells develop in the growing embryo, including those that form the bones, heart, muscles, nerves, and blood vessels. The Notch1 and DLL4 proteins fit together like a lock and its key to stimulate one part of the Notch pathway, which is important for development of blood vessels. The NOTCH1 and DLL4 gene mutations involved in Adams-Oliver syndrome likely impair Notch1 signaling, which may underlie blood vessel and heart abnormalities in some people with Adams-Oliver syndrome. Researchers suspect that the other features of the condition may be due to abnormal blood vessel development before birth. Signaling through Notch1 and other Notch proteins stimulates the RBP-J protein, produced from the RBPJ gene, to attach (bind) to specific regions of DNA and control the activity of genes that play a role in cellular development in multiple tissues throughout the body. The RBPJ gene mutations involved in Adams-Oliver syndrome alter the region of the RBP-J protein that normally binds DNA. The altered protein is unable to bind to DNA, preventing it from turning on particular genes. These changes in gene activity impair the proper development of the skin, bones, and other tissues, leading to the features of Adams-Oliver syndrome. Little is known about how mutations in the EOGT gene cause Adams-Oliver syndrome. The protein produced from this gene modifies certain proteins by transferring a molecule called N-acetylglucosamine to them. It is thought that the EOGT protein modifies Notch proteins, which stimulate the Notch signaling pathway. However, the impact of the modification on Notch signaling is unclear. At least three mutations in the EOGT gene have been identified in people with Adams-Oliver syndrome, but how the genetic changes contribute to the signs and symptoms of this disorder is still unknown.",GHR,Adams-Oliver syndrome +Is Adams-Oliver syndrome inherited ?,"Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern. In conditions with this pattern of inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Adams-Oliver syndrome +What are the treatments for Adams-Oliver syndrome ?,These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - Genetic Testing Registry: Adams-Oliver syndrome 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Adams-Oliver syndrome +What is (are) Beckwith-Wiedemann syndrome ?,"Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.",GHR,Beckwith-Wiedemann syndrome +How many people are affected by Beckwith-Wiedemann syndrome ?,"Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed.",GHR,Beckwith-Wiedemann syndrome +What are the genetic changes related to Beckwith-Wiedemann syndrome ?,"The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or ""turned on,"" in cells. For some genes, however, only the copy inherited from a person's father (the paternally inherited copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome. At least half of all cases result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Beckwith-Wiedemann syndrome is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes. Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. About twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two active copies of paternally inherited genes rather than one active copy from the father and one inactive copy from the mother. People with paternal UPD are also missing genes that are active only on the maternally inherited copy of the chromosome. In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. This phenomenon is called mosaicism. Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder. Less commonly, mutations in the CDKN1C gene cause Beckwith-Wiedemann syndrome. This gene provides instructions for making a protein that helps control growth before birth. Mutations in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome. About 1 percent of all people with Beckwith-Wiedemann syndrome have a chromosomal abnormality such as a rearrangement (translocation), abnormal copying (duplication), or loss (deletion) of genetic material from chromosome 11. Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these abnormalities disrupt the normal regulation of certain genes on this chromosome.",GHR,Beckwith-Wiedemann syndrome +Is Beckwith-Wiedemann syndrome inherited ?,"In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 to 15 percent of people with Beckwith-Wiedemann syndrome are part of families with more than one affected family member. In most of these families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is typically sufficient to cause the disorder. In most of these cases, individuals with Beckwith-Wiedemann syndrome inherit the genetic change from their mothers. Occasionally, a person who inherits the altered gene will not have any of the characteristic signs and symptoms of the condition. Rarely, Beckwith-Wiedemann syndrome results from changes in the structure of chromosome 11. Some of these chromosomal abnormalities are inherited from a parent, while others occur as random events during the formation of reproductive cells (eggs and sperm) or in the earliest stages of development before birth.",GHR,Beckwith-Wiedemann syndrome +What are the treatments for Beckwith-Wiedemann syndrome ?,These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Beckwith-Wiedemann syndrome +What is (are) otospondylomegaepiphyseal dysplasia ?,"Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymller syndrome. People with OSMED are often shorter than average because the bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Virtually all affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of OSMED tend to diminish during childhood, but other signs and symptoms, such as hearing loss and joint pain, persist into adulthood.",GHR,otospondylomegaepiphyseal dysplasia +How many people are affected by otospondylomegaepiphyseal dysplasia ?,This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide.,GHR,otospondylomegaepiphyseal dysplasia +What are the genetic changes related to otospondylomegaepiphyseal dysplasia ?,Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL11A2 gene that cause OSMED disrupt the production or assembly of type XI collagen molecules. The loss of type XI collagen prevents bones and other connective tissues from developing properly.,GHR,otospondylomegaepiphyseal dysplasia +Is otospondylomegaepiphyseal dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,otospondylomegaepiphyseal dysplasia +What are the treatments for otospondylomegaepiphyseal dysplasia ?,These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,otospondylomegaepiphyseal dysplasia +What is (are) pseudohypoaldosteronism type 2 ?,"Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys. People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function. The age of onset of PHA2 is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals also have high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have high levels of calcium in their urine (hypercalciuria).",GHR,pseudohypoaldosteronism type 2 +How many people are affected by pseudohypoaldosteronism type 2 ?,"PHA2 is a rare condition; however, the prevalence is unknown.",GHR,pseudohypoaldosteronism type 2 +What are the genetic changes related to pseudohypoaldosteronism type 2 ?,"PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure. The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of sodium or potassium into and out of cells. This process primarily occurs in the kidneys. Mutations in either of these genes disrupt control of these channels, leading to abnormal levels of sodium and potassium in the body. As a result, affected individuals develop hypertension and hyperkalemia. The proteins produced from the CUL3 gene (called cullin-3) and the KLHL3 gene help control the amount of WNK1 and WNK4 protein available. Cullin-3 and KLHL3 are two pieces of a complex, called an E3 ubiquitin ligase, that tags certain other proteins with molecules called ubiquitin. This molecule acts as a signal for the tagged protein to be broken down when it is no longer needed. E3 ubiquitin ligases containing cullin-3 and KLHL3 are able to tag the WNK1 and WNK4 proteins with ubiquitin, leading to their breakdown. Mutations in either the CUL3 or KLHL3 gene impair breakdown of the WNK4 protein. (The effect of these mutations on the WNK1 protein is unclear.) An excess of WNK4 likely disrupts control of sodium and potassium levels, resulting in hypertension and hyperkalemia.",GHR,pseudohypoaldosteronism type 2 +Is pseudohypoaldosteronism type 2 inherited ?,"This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused by CUL3 gene mutations can be inherited from an affected parent, many result from new mutations in the gene and occur in people with no history of the disorder in their family. Some cases caused by mutations in the KLHL3 gene are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pseudohypoaldosteronism type 2 +What are the treatments for pseudohypoaldosteronism type 2 ?,"These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,pseudohypoaldosteronism type 2 +What is (are) Lennox-Gastaut syndrome ?,"Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Most of the seizures associated with Lennox-Gastaut syndrome are very brief. However, more than two-thirds of affected individuals experience at least one prolonged period of seizure activity known as nonconvulsive status epilepticus. These episodes can cause confusion and a loss of alertness lasting from hours to weeks. Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and progressive intellectual disability, most people with Lennox-Gastaut syndrome require help with some or all of the usual activities of daily living. However, a small percentage of affected adults live independently. People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.",GHR,Lennox-Gastaut syndrome +How many people are affected by Lennox-Gastaut syndrome ?,"Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females.",GHR,Lennox-Gastaut syndrome +What are the genetic changes related to Lennox-Gastaut syndrome ?,"Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. Symptomatic Lennox-Gastaut syndrome can be associated with brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. The condition can also result from a brain malformation known as cortical dysplasia or occur as part of a genetic disorder called tuberous sclerosis complex. Many people with Lennox-Gastaut syndrome have a history of recurrent seizures beginning in infancy (infantile spasms) or a related condition called West syndrome. In about one-third of cases, the cause of Lennox-Gastaut syndrome is unknown. When the disorder occurs without an apparent underlying reason, it is described as cryptogenic. Individuals with cryptogenic Lennox-Gastaut syndrome have no history of epilepsy, neurological problems, or delayed development prior to the onset of the disorder.",GHR,Lennox-Gastaut syndrome +Is Lennox-Gastaut syndrome inherited ?,"Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy.",GHR,Lennox-Gastaut syndrome +What are the treatments for Lennox-Gastaut syndrome ?,"These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U.S. Food and Drug Administration, November 20, 2008) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Lennox-Gastaut syndrome +What is (are) Christianson syndrome ?,"Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individuals who do learn to walk lose the ability in childhood. Most affected children also have recurrent seizures (epilepsy), beginning between ages 1 and 2. Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. Affected children often have a happy demeanor with frequent smiling and spontaneous laughter.",GHR,Christianson syndrome +How many people are affected by Christianson syndrome ?,"Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world.",GHR,Christianson syndrome +What are the genetic changes related to Christianson syndrome ?,"Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. The NHE6 protein acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). By controlling the amount of hydrogen ions, the NHE6 protein helps regulate the relative acidity (pH) inside endosomes, which is important for the recycling function of these compartments. The NHE6 protein may have additional functions, such as helping to move proteins to the correct location in the cell (protein trafficking). Mutations in the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence of functional NHE6 channels. As a result, the pH in endosomes is not properly maintained. It is unclear how unregulated endosomal pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by endosomes is important for learning and memory, but the role of endosomal pH or the NHE6 protein in this process has not been identified.",GHR,Christianson syndrome +Is Christianson syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry an SLC9A6 gene mutation have mild learning disabilities. It is unclear if these disabilities are related to the gene mutation or occur by chance.",GHR,Christianson syndrome +What are the treatments for Christianson syndrome ?,These resources address the diagnosis or management of Christianson syndrome: - Genetic Testing Registry: Christianson syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Christianson syndrome +What is (are) Meier-Gorlin syndrome ?,"Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect. Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age). Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair. Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.",GHR,Meier-Gorlin syndrome +How many people are affected by Meier-Gorlin syndrome ?,"Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown.",GHR,Meier-Gorlin syndrome +What are the genetic changes related to Meier-Gorlin syndrome ?,"Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide. Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.",GHR,Meier-Gorlin syndrome +Is Meier-Gorlin syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Meier-Gorlin syndrome +What are the treatments for Meier-Gorlin syndrome ?,These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Registry: Meier-Gorlin syndrome 4 - Genetic Testing Registry: Meier-Gorlin syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Meier-Gorlin syndrome +What is (are) myoclonus-dystonia ?,"Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom. The movement problems usually appear in childhood or early adolescence, and myoclonus is typically the initial symptom. Myoclonus may be triggered by movement or stimulation of the affected body area, stress, sudden noise, or caffeine. In some cases, the myoclonus gets worse over time; in other cases, people experience a spontaneous improvement (remission) of their symptoms. It is unclear why the movement abnormalities improve in some people but not in others. People with myoclonus-dystonia may have an increased risk for developing psychological conditions such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).",GHR,myoclonus-dystonia +How many people are affected by myoclonus-dystonia ?,The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide.,GHR,myoclonus-dystonia +What are the genetic changes related to myoclonus-dystonia ?,"Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain.",GHR,myoclonus-dystonia +Is myoclonus-dystonia inherited ?,"Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or ""turned on,"" in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. Only the paternal copy of the SGCE gene is active. Myoclonus-dystonia occurs when mutations affect the paternal copy of the SGCE gene. Mutations in the maternal copy of the gene typically do not cause any health problems.",GHR,myoclonus-dystonia +What are the treatments for myoclonus-dystonia ?,These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myoclonus-dystonia +What is (are) 15q13.3 microdeletion ?,"15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy. 15q13.3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with developmental disorders that affect communication and social interaction (autism spectrum disorders). This chromosomal change may also be associated with an increased risk of psychiatric disorders, particularly schizophrenia. Other signs and symptoms of 15q13.3 microdeletion can include heart defects, minor abnormalities involving the hands and arms, and subtle differences in facial features. Some people with a 15q13.3 microdeletion do not have any of the intellectual, behavioral, or physical features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have an affected relative. It is unknown why a 15q13.3 microdeletion causes cognitive and behavioral problems in some individuals but few or no health problems in others.",GHR,15q13.3 microdeletion +How many people are affected by 15q13.3 microdeletion ?,"15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the general population. It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders.",GHR,15q13.3 microdeletion +What are the genetic changes related to 15q13.3 microdeletion ?,"Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA building blocks (base pairs), also written as 2 megabases (Mb), at position q13.3 on chromosome 15. The exact size of the deleted region varies, but it typically contains at least six genes. This deletion usually affects one of the two copies of chromosome 15 in each cell. The signs and symptoms that can result from a 15q13.3 microdeletion are probably related to the loss of one or more genes in this region. However, it is unclear which missing genes contribute to the specific features of the disorder. Because some people with a 15q13.3 microdeletion have no obvious signs or symptoms, researchers believe that other genetic or environmental factors may also be involved.",GHR,15q13.3 microdeletion +Is 15q13.3 microdeletion inherited ?,"15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features. In about 75 percent of cases, individuals with 15q13.3 microdeletion inherit the chromosomal change from a parent. In the remaining cases, 15q13.3 microdeletion occurs in people whose parents do not carry the chromosomal change. In these individuals, the deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.",GHR,15q13.3 microdeletion +What are the treatments for 15q13.3 microdeletion ?,These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,15q13.3 microdeletion +What is (are) androgenetic alopecia ?,"Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic ""M"" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness. The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness. Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.",GHR,androgenetic alopecia +How many people are affected by androgenetic alopecia ?,"Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.",GHR,androgenetic alopecia +What are the genetic changes related to androgenetic alopecia ?,"A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive. Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed. Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia. Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.",GHR,androgenetic alopecia +Is androgenetic alopecia inherited ?,"The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition.",GHR,androgenetic alopecia +What are the treatments for androgenetic alopecia ?,"These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male Pattern Baldness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,androgenetic alopecia +What is (are) Behet disease ?,"Behet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers are usually the first sign of Behet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women. Behet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms. An inflammation of the eye called uveitis is found in more than half of people with Behet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behet disease can lead to blindness. Less commonly, Behet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. The signs and symptoms of Behet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.",GHR,Behet disease +How many people are affected by Behet disease ?,"Behet disease is most common in Mediterranean countries, the Middle East, Japan, and other parts of Asia. However, it has been found in populations worldwide. The highest prevalence of Behet disease has been reported in Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is much less common in northern European countries and the United States, where it generally affects fewer than 1 in 100,000 people.",GHR,Behet disease +What are the genetic changes related to Behet disease ?,"The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease. The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B51 increases the risk of developing Behet disease. Although many people with Behet disease have the HLA-B51 variation, most people with this version of the HLA-B gene never develop the disorder. It is unknown how HLA-B51 increases the risk of developing Behet disease. Researchers have considered many other genetic and environmental factors as possible contributors to Behet disease. Studies have examined several genes related to immune system function, although no gene except HLA-B has been definitively associated with an increased risk of Behet disease. It appears likely that environmental factors, such as certain bacterial or viral infections, play a role in triggering the disease in people who are at risk. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear.",GHR,Behet disease +Is Behet disease inherited ?,"Most cases of Behet disease are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance.",GHR,Behet disease +What are the treatments for Behet disease ?,These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Behet disease +What is (are) juvenile primary osteoporosis ?,"Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.",GHR,juvenile primary osteoporosis +How many people are affected by juvenile primary osteoporosis ?,"The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis).",GHR,juvenile primary osteoporosis +What are the genetic changes related to juvenile primary osteoporosis ?,"Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density. LRP5 gene mutations that cause juvenile primary osteoporosis result in an LRP5 protein that cannot transmit signals along the pathway. The resulting reduction in signaling impairs proper bone development, causing decreased bone mineral density and osteoporosis at a young age. Many people with childhood-onset osteoporosis do not have a mutation in the LRP5 gene. (When its cause is unknown, the condition is often called idiopathic juvenile osteoporosis). It is likely that mutations in other genes that have not been identified are involved in this condition.",GHR,juvenile primary osteoporosis +Is juvenile primary osteoporosis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,juvenile primary osteoporosis +What are the treatments for juvenile primary osteoporosis ?,These resources address the diagnosis or management of juvenile primary osteoporosis: - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,juvenile primary osteoporosis +What is (are) otopalatodigital syndrome type 2 ?,"Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Otopalatodigital syndrome type 2 also tends to cause problems in other areas of the body, such as the brain and heart. People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia). The base of the skull may be thickened. Some people with this disorder have hearing loss. Affected individuals are usually of short stature and may have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. They may have bowed limbs; underdeveloped, irregular ribs that may cause problems with breathing; and other abnormal or absent bones. Some may be born with an opening in the roof of the mouth (a cleft palate). In addition to skeletal abnormalities, individuals with otopalatodigital syndrome type 2 may have developmental delay, increased fluid in the center of the brain (hydrocephalus), protrusion of the abdominal organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of the urethra on the underside of the penis (hypospadias). Males with otopalatodigital syndrome type 2 generally have much more severe signs and symptoms than do females. Males with the disorder usually do not live beyond their first year, because their underdeveloped rib cage does not allow sufficient lung expansion for breathing.",GHR,otopalatodigital syndrome type 2 +How many people are affected by otopalatodigital syndrome type 2 ?,"Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown.",GHR,otopalatodigital syndrome type 2 +What are the genetic changes related to otopalatodigital syndrome type 2 ?,"Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 2. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 2 are described as ""gain-of-function"" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 2.",GHR,otopalatodigital syndrome type 2 +Is otopalatodigital syndrome type 2 inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,otopalatodigital syndrome type 2 +What are the treatments for otopalatodigital syndrome type 2 ?,"These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,otopalatodigital syndrome type 2 +What is (are) desmoid tumor ?,"A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal. The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs. Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.",GHR,desmoid tumor +How many people are affected by desmoid tumor ?,"Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis.",GHR,desmoid tumor +What are the genetic changes related to desmoid tumor ?,"Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 10 to 15 percent of sporadic desmoid tumors. Both genes are involved in an important cell signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). The CTNNB1 gene provides instructions for making a protein called beta-catenin. As part of the cell-signaling pathway, beta-catenin interacts with other proteins to control the activity (expression) of particular genes, which helps promote cell proliferation and differentiation. CTNNB1 gene mutations lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed. The protein accumulates in cells, where it continues to function in an uncontrolled way. The protein produced from the APC gene helps regulate levels of beta-catenin in the cell. When beta-catenin is no longer needed, the APC protein attaches (binds) to it, which signals for it to be broken down. Mutations in the APC gene that cause desmoid tumors lead to a short APC protein that is unable to interact with beta-catenin. As a result, beta-catenin is not broken down and, instead, accumulates in cells. Excess beta-catenin, whether caused by CTNNB1 or APC gene mutations, promotes uncontrolled growth and division of cells, allowing the formation of desmoid tumors.",GHR,desmoid tumor +Is desmoid tumor inherited ?,"Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors. An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. In these cases, the condition is sometimes called hereditary desmoid disease.",GHR,desmoid tumor +What are the treatments for desmoid tumor ?,"These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,desmoid tumor +What is (are) Parkinson disease ?,"Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time. Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.",GHR,Parkinson disease +How many people are affected by Parkinson disease ?,"Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, and the risk of developing this condition increases with age. Because more people are living longer, the number of people with this disease is expected to increase in coming decades.",GHR,Parkinson disease +What are the genetic changes related to Parkinson disease ?,"Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear. Approximately 15 percent of people with Parkinson disease have a family history of this disorder. Familial cases of Parkinson disease can be caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic (not inherited). Alterations in certain genes, including GBA and UCHL1, do not cause Parkinson disease but appear to modify the risk of developing the condition in some families. Variations in other genes that have not been identified probably also contribute to Parkinson disease risk. It is not fully understood how genetic changes cause Parkinson disease or influence the risk of developing the disorder. Many Parkinson disease symptoms occur when nerve cells (neurons) in the substantia nigra die or become impaired. Normally, these cells produce a chemical messenger called dopamine, which transmits signals within the brain to produce smooth physical movements. When these dopamine-producing neurons are damaged or die, communication between the brain and muscles weakens. Eventually, the brain becomes unable to control muscle movement. Some gene mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins in dopamine-producing neurons. As a result, undegraded proteins accumulate, leading to the impairment or death of these cells. Other mutations may affect the function of mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules called free radicals that can damage cells. Cells normally counteract the effects of free radicals before they cause damage, but mutations can disrupt this process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons. In most cases of Parkinson disease, protein deposits called Lewy bodies appear in dead or dying dopamine-producing neurons. (When Lewy bodies are not present, the condition is sometimes referred to as parkinsonism.) It is unclear whether Lewy bodies play a role in killing nerve cells or if they are part of the cells' response to the disease.",GHR,Parkinson disease +Is Parkinson disease inherited ?,"Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the LRRK2 or SNCA gene is involved, the disorder is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. If the PARK2, PARK7, or PINK1 gene is involved, Parkinson disease is inherited in an autosomal recessive pattern. This type of inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with autosomal recessive Parkinson disease each carry one copy of the altered gene but do not show signs and symptoms of the disorder. When genetic alterations modify the risk of developing Parkinson disease, the inheritance pattern is usually unknown.",GHR,Parkinson disease +What are the treatments for Parkinson disease ?,"These resources address the diagnosis or management of Parkinson disease: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Parkinson disease 1 - Genetic Testing Registry: Parkinson disease 10 - Genetic Testing Registry: Parkinson disease 11 - Genetic Testing Registry: Parkinson disease 12 - Genetic Testing Registry: Parkinson disease 13 - Genetic Testing Registry: Parkinson disease 14 - Genetic Testing Registry: Parkinson disease 15 - Genetic Testing Registry: Parkinson disease 16 - Genetic Testing Registry: Parkinson disease 17 - Genetic Testing Registry: Parkinson disease 18 - Genetic Testing Registry: Parkinson disease 2 - Genetic Testing Registry: Parkinson disease 3 - Genetic Testing Registry: Parkinson disease 4 - Genetic Testing Registry: Parkinson disease 5 - Genetic Testing Registry: Parkinson disease 6, autosomal recessive early-onset - Genetic Testing Registry: Parkinson disease 7 - Genetic Testing Registry: Parkinson disease 8, autosomal dominant - Genetic Testing Registry: Parkinson disease, late-onset - Genetic Testing Registry: Parkinson disease, mitochondrial - MedlinePlus Encyclopedia: Parkinson's Disease - Michael J. Fox Foundation for Parkinson's Research: What Drugs Are Used to Treat Parkinson's Disease and How Do They Work? - National Institute of Neurological Disorders and Stroke: Deep Brain Stimulation for Parkinson's Disease - Parkinson's Disease Foundation: Diagnosis - Parkinson's Disease Foundation: Medications & Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Parkinson disease +What is (are) congenital stromal corneal dystrophy ?,"Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including ""lazy eye"" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia).",GHR,congenital stromal corneal dystrophy +How many people are affected by congenital stromal corneal dystrophy ?,Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature.,GHR,congenital stromal corneal dystrophy +What are the genetic changes related to congenital stromal corneal dystrophy ?,"Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the cornea, well-organized bundles of collagen make the cornea transparent. Decorin ensures that collagen fibrils in the cornea are uniformly sized and regularly spaced. Mutations in the DCN gene lead to the production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils in the cornea. As poorly arranged collagen fibrils accumulate, the cornea becomes cloudy. These corneal changes lead to reduced visual acuity and related eye abnormalities.",GHR,congenital stromal corneal dystrophy +Is congenital stromal corneal dystrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,congenital stromal corneal dystrophy +What are the treatments for congenital stromal corneal dystrophy ?,These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Cloudy Cornea These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital stromal corneal dystrophy +What is (are) Sheldon-Hall syndrome ?,"Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term ""arthrogryposis"" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). ""Distal"" refers to areas of the body away from the center. The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity called ulnar deviation in which all of the fingers are angled outward toward the fifth (pinky) finger. Inward- and upward-turning feet (a condition called clubfoot) is also commonly seen in Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among affected individuals; the abnormalities are present at birth and generally do not get worse over time. People with Sheldon-Hall syndrome also usually have distinctive facial features, which include a triangular face; outside corners of the eyes that point downward (down-slanting palpebral fissures); deep folds in the skin between the nose and lips (nasolabial folds); and a small mouth with a high, arched roof of the mouth (palate). Other features that may occur in Sheldon-Hall syndrome include extra folds of skin on the neck (webbed neck) and short stature. Sheldon-Hall syndrome does not usually affect other parts of the body, and intelligence and life expectancy are normal in this disorder.",GHR,Sheldon-Hall syndrome +How many people are affected by Sheldon-Hall syndrome ?,"The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature.",GHR,Sheldon-Hall syndrome +What are the genetic changes related to Sheldon-Hall syndrome ?,"Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction). Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins called actins. The MYH3 gene provides instructions for making a myosin protein that is normally active only before birth and is important for early development of the muscles. The process of muscle contraction is controlled (regulated) by other proteins called troponins and tropomyosins, which affect the interaction of myosin and actin. Certain troponin proteins are produced from the TNNI2 and TNNT3 genes. The TPM2 gene provides instructions for making a tropomyosin protein. Mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene likely interfere with normal muscle development or prevent muscle contractions from being properly controlled, resulting in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome. It is unknown why the contractures mainly affect the hands and feet or how these gene mutations are related to other features of this disorder.",GHR,Sheldon-Hall syndrome +Is Sheldon-Hall syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Sheldon-Hall syndrome +What are the treatments for Sheldon-Hall syndrome ?,These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Sheldon-Hall syndrome +What is (are) choroideremia ?,"Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.",GHR,choroideremia +How many people are affected by choroideremia ?,"The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness.",GHR,choroideremia +What are the genetic changes related to choroideremia ?,"Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). Rab proteins are involved in the movement of proteins and organelles within cells (intracellular trafficking). Mutations in the CHM gene lead to an absence of REP-1 protein or the production of a REP-1 protein that cannot carry out its protein escort function. This lack of functional REP-1 prevents Rab proteins from reaching and attaching (binding) to the organelle membranes. Without the aid of Rab proteins in intracellular trafficking, cells die prematurely. The REP-1 protein is active (expressed) throughout the body, as is a similar protein, REP-2. Research suggests that when REP-1 is absent or nonfunctional, REP-2 can perform the protein escort duties of REP-1 in many of the body's tissues. Very little REP-2 protein is present in the retina, however, so it cannot compensate for the loss of REP-1 in this tissue. Loss of REP-1 function and subsequent misplacement of Rab proteins within the cells of the retina causes the progressive vision loss characteristic of choroideremia.",GHR,choroideremia +Is choroideremia inherited ?,"Choroideremia is inherited in an X-linked recessive pattern. The CHM gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Females who carry a CHM mutation may show small areas of cell loss within the retina that can be observed during a thorough eye examination. These changes can impair vision later in life.",GHR,choroideremia +What are the treatments for choroideremia ?,These resources address the diagnosis or management of choroideremia: - Gene Review: Gene Review: Choroideremia - Genetic Testing Registry: Choroideremia - MedlinePlus Encyclopedia: Vision - night blindness - MedlinePlus Encyclopedia: Visual field These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,choroideremia +What is (are) sensorineural deafness and male infertility ?,"Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.",GHR,sensorineural deafness and male infertility +How many people are affected by sensorineural deafness and male infertility ?,The prevalence of sensorineural deafness and male infertility is unknown.,GHR,sensorineural deafness and male infertility +What are the genetic changes related to sensorineural deafness and male infertility ?,"Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.",GHR,sensorineural deafness and male infertility +Is sensorineural deafness and male infertility inherited ?,"Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition. Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.",GHR,sensorineural deafness and male infertility +What are the treatments for sensorineural deafness and male infertility ?,"These resources address the diagnosis or management of sensorineural deafness and male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: Deafness, sensorineural, and male infertility - MedlinePlus Health Topic: Assisted Reproductive Technology - RESOLVE: The National Infertility Association: Semen Analysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sensorineural deafness and male infertility +What is (are) congenital generalized lipodystrophy ?,"Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems. The signs and symptoms of congenital generalized lipodystrophy are usually apparent from birth or early childhood. One of the most common features is insulin resistance, a condition in which the body's tissues are unable to recognize insulin, a hormone that normally helps to regulate blood sugar levels. Insulin resistance may develop into a more serious disease called diabetes mellitus. Most affected individuals also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to the development of small yellow deposits of fat under the skin called eruptive xanthomas and inflammation of the pancreas (pancreatitis). Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and liver failure. Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive physical appearance. They appear very muscular because they have an almost complete absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose tissue under the skin also makes the veins appear prominent. Affected individuals tend to have a large chin, prominent bones above the eyes (orbital ridges), large hands and feet, and a prominent belly button (umbilicus). Affected females may have an enlarged clitoris (clitoromegaly), an increased amount of body hair (hirsutism), irregular menstrual periods, and multiple cysts on the ovaries, which may be related to hormonal changes. Many people with this disorder develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety. Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. The types also have some differences in their typical signs and symptoms. For example, in addition to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the arms and legs after puberty. Type 2 can be associated with intellectual disability, which is usually mild to moderate. Type 3 appears to cause poor growth and short stature, along with other health problems. Type 4 is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death.",GHR,congenital generalized lipodystrophy +How many people are affected by congenital generalized lipodystrophy ?,"Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.",GHR,congenital generalized lipodystrophy +What are the genetic changes related to congenital generalized lipodystrophy ?,"Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue disrupt hormones and affect many of the body's organs, resulting in the varied signs and symptoms of congenital generalized lipodystrophy. Some of the genes associated with congenital generalized lipodystrophy also play roles in other cells and tissues. For example, the protein produced from the BSCL2 gene is also present in the brain, although its function is unknown. A loss of this protein in the brain may help explain why congenital generalized lipodystrophy type 2 is sometimes associated with intellectual disability. In some people with congenital generalized lipodystrophy, no mutations have been found in any of the genes listed above. Researchers are looking for additional genetic changes associated with this disorder.",GHR,congenital generalized lipodystrophy +Is congenital generalized lipodystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital generalized lipodystrophy +What are the treatments for congenital generalized lipodystrophy ?,These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Southwestern Medical Center: Lipodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital generalized lipodystrophy +What is (are) achromatopsia ?,"Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination. Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life. Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.",GHR,achromatopsia +How many people are affected by achromatopsia ?,"Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people in this population have a total absence of color vision.",GHR,achromatopsia +What are the genetic changes related to achromatopsia ?,"Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones. These cells transmit visual signals from the eye to the brain through a process called phototransduction. Rods provide vision in low light (night vision). Cones provide vision in bright light (daylight vision), including color vision. Mutations in any of the genes listed above prevent cones from reacting appropriately to light, which interferes with phototransduction. In people with complete achromatopsia, cones are nonfunctional, and vision depends entirely on the activity of rods. The loss of cone function leads to a total lack of color vision and causes the other vision problems. People with incomplete achromatopsia retain some cone function. These individuals have limited color vision, and their other vision problems tend to be less severe. Some people with achromatopsia do not have identified mutations in any of the known genes. In these individuals, the cause of the disorder is unknown. Other genetic factors that have not been identified likely contribute to this condition.",GHR,achromatopsia +Is achromatopsia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,achromatopsia +What are the treatments for achromatopsia ?,These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,achromatopsia +What is (are) Nager syndrome ?,"Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems. People with Nager syndrome often have eyes that slant downward, absent eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that are unusually curved (clinodactyly) or fused together (syndactyly). Their forearms may be shortened due to the partial or complete absence of a bone called the radius. People with Nager syndrome sometimes have difficulty fully extending their elbows. This condition can also cause bone abnormalities in the legs and feet. Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, and urinary tract.",GHR,Nager syndrome +How many people are affected by Nager syndrome ?,"Nager syndrome is a rare condition, although its prevalence is unknown. More than 75 cases have been reported in the medical literature.",GHR,Nager syndrome +What are the genetic changes related to Nager syndrome ?,"The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families. Nager syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs.",GHR,Nager syndrome +Is Nager syndrome inherited ?,"Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Nager syndrome. In autosomal dominant Nager syndrome, an affected person usually inherits the condition from one affected parent. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child. The underlying genetic cause may differ among unrelated individuals with Nager syndrome, even among those with the same pattern of inheritance.",GHR,Nager syndrome +What are the treatments for Nager syndrome ?,These resources address the diagnosis or management of Nager syndrome: - Genetic Testing Registry: Nager syndrome - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Nager syndrome +"What is (are) distal hereditary motor neuropathy, type V ?","Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom. The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.",GHR,"distal hereditary motor neuropathy, type V" +"How many people are affected by distal hereditary motor neuropathy, type V ?","The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported.",GHR,"distal hereditary motor neuropathy, type V" +"What are the genetic changes related to distal hereditary motor neuropathy, type V ?","Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. This accumulation likely damages and kills motor neurons (specialized nerve cells in the brain and spinal cord that control muscle movement), leading to muscle weakness in the hands and feet. The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is involved in the production (synthesis) of proteins. It is unclear how GARS gene mutations lead to distal hereditary motor neuropathy, type V. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in the activity of this enzyme may impair transmission of nerve impulses. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet. Mutations in other genes may also cause distal hereditary motor neuropathy, type V.",GHR,"distal hereditary motor neuropathy, type V" +"Is distal hereditary motor neuropathy, type V inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance.",GHR,"distal hereditary motor neuropathy, type V" +"What are the treatments for distal hereditary motor neuropathy, type V ?","These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5 - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5B - MedlinePlus Encyclopedia: High-Arched Foot These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"distal hereditary motor neuropathy, type V" +What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?,"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP. Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves. ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP.",GHR,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?,"ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed.",GHR,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +What are the genetic changes related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?,"ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on specific functions (differentiation). CSF1R gene mutations in ALSP lead to an altered CSF-1 receptor protein that is likely unable to stimulate cell signaling pathways. However, it is unclear how the gene mutations lead to white matter damage or cognitive and movement problems in people with ALSP.",GHR,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +What are the treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?,These resources address the diagnosis or management of ALSP: - Gene Review: Gene Review: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Genetic Testing Registry: Hereditary diffuse leukoencephalopathy with spheroids - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +What is (are) lissencephaly with cerebellar hypoplasia ?,"Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem). Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).",GHR,lissencephaly with cerebellar hypoplasia +How many people are affected by lissencephaly with cerebellar hypoplasia ?,"LCH is a rare condition, although its prevalence is unknown.",GHR,lissencephaly with cerebellar hypoplasia +What are the genetic changes related to lissencephaly with cerebellar hypoplasia ?,"LCH can be caused by mutations in the RELN or TUBA1A gene. The RELN gene provides instructions for making a protein called reelin. In the developing brain, reelin turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. The protein produced from the TUBA1A gene is also involved in neuronal migration as a component of cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving neurons. Mutations in either the RELN or TUBA1A gene impair the normal migration of neurons during fetal development. As a result, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to the neurological problems characteristic of LCH.",GHR,lissencephaly with cerebellar hypoplasia +Is lissencephaly with cerebellar hypoplasia inherited ?,"When LCH is caused by mutations in the RELN gene, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When LCH is caused by mutations in the TUBA1A gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,lissencephaly with cerebellar hypoplasia +What are the treatments for lissencephaly with cerebellar hypoplasia ?,These resources address the diagnosis or management of lissencephaly with cerebellar hypoplasia: - Genetic Testing Registry: Lissencephaly 2 - Genetic Testing Registry: Lissencephaly 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lissencephaly with cerebellar hypoplasia +What is (are) lymphedema-distichiasis syndrome ?,"Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted (varicose) veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate). All people with lymphedema-distichiasis syndrome have extra eyelashes present at birth. The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.",GHR,lymphedema-distichiasis syndrome +How many people are affected by lymphedema-distichiasis syndrome ?,"The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only.",GHR,lymphedema-distichiasis syndrome +What are the genetic changes related to lymphedema-distichiasis syndrome ?,"Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).",GHR,lymphedema-distichiasis syndrome +Is lymphedema-distichiasis syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,lymphedema-distichiasis syndrome +What are the treatments for lymphedema-distichiasis syndrome ?,These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lymphedema-distichiasis syndrome +What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ?,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). Other problems may include deformities of the fingers and feet, reduced sensation and weakness in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), and less commonly, leaks in one of the valves that control blood flow through the heart (mitral valve prolapse). An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity and ataxia of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties. This condition was first seen in people of the Charlevoix-Saguenay region of Quebec, Canada. The majority of people with ARSACS live in Quebec or have recent ancestors from Quebec. People with ARSACS have also been identified in Japan, Turkey, Tunisia, Spain, Italy, and Belgium. The signs and symptoms of ARSACS seen in other countries differ from those in Quebec. In people with ARSACS outside of Quebec, hypermyelination of the retina is seen less often, intelligence may be below normal, and symptoms tend to appear at a later age.",GHR,autosomal recessive spastic ataxia of Charlevoix-Saguenay +How many people are affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay ?,"The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is rare, but the incidence is unknown.",GHR,autosomal recessive spastic ataxia of Charlevoix-Saguenay +What are the genetic changes related to autosomal recessive spastic ataxia of Charlevoix-Saguenay ?,"Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. Research suggests that sacsin might play a role in folding newly produced proteins into the proper 3-dimensional shape because it shares similar regions with other proteins that perform this function. Mutations in the SACS gene cause the production of an unstable sacsin protein that does not function normally. It is unclear how the abnormal sacsin protein affects the brain and skeletal muscles and results in the signs and symptoms of ARSACS.",GHR,autosomal recessive spastic ataxia of Charlevoix-Saguenay +Is autosomal recessive spastic ataxia of Charlevoix-Saguenay inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive spastic ataxia of Charlevoix-Saguenay +What are the treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay ?,These resources address the diagnosis or management of ARSACS: - Gene Review: Gene Review: ARSACS - Genetic Testing Registry: Spastic ataxia Charlevoix-Saguenay type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal recessive spastic ataxia of Charlevoix-Saguenay +What is (are) ataxia-telangiectasia ?,"Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals. People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.",GHR,ataxia-telangiectasia +How many people are affected by ataxia-telangiectasia ?,"Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide.",GHR,ataxia-telangiectasia +What are the genetic changes related to ataxia-telangiectasia ?,"Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. The ATM protein assists cells in recognizing damaged or broken DNA strands and coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information. Mutations in the ATM gene reduce or eliminate the function of the ATM protein. Without this protein, cells become unstable and die. Cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected by loss of the ATM protein. The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. Mutations in the ATM gene also prevent cells from responding correctly to DNA damage, which allows breaks in DNA strands to accumulate and can lead to the formation of cancerous tumors.",GHR,ataxia-telangiectasia +Is ataxia-telangiectasia inherited ?,"Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. About 1 percent of the United States population carries one mutated copy and one normal copy of the ATM gene in each cell. These individuals are called carriers. Although ATM mutation carriers do not have ataxia-telangiectasia, they are more likely than people without an ATM mutation to develop cancer; female carriers are particularly at risk for developing breast cancer. Carriers of a mutation in the ATM gene also may have an increased risk of heart disease.",GHR,ataxia-telangiectasia +What are the treatments for ataxia-telangiectasia ?,These resources address the diagnosis or management of ataxia-telangiectasia: - Gene Review: Gene Review: Ataxia-Telangiectasia - Genetic Testing Registry: Ataxia-telangiectasia syndrome - MedlinePlus Encyclopedia: Ataxia-Telangiectasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ataxia-telangiectasia +What is (are) Leber congenital amaurosis ?,"Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus. A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children. In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms. At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.",GHR,Leber congenital amaurosis +How many people are affected by Leber congenital amaurosis ?,"Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one of the most common causes of blindness in children.",GHR,Leber congenital amaurosis +What are the genetic changes related to Leber congenital amaurosis ?,"Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic finger-like projections that stick out from the surface of many types of cells. Cilia are necessary for the perception of several types of sensory input, including vision. Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.",GHR,Leber congenital amaurosis +Is Leber congenital amaurosis inherited ?,"Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.",GHR,Leber congenital amaurosis +What are the treatments for Leber congenital amaurosis ?,These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 - Genetic Testing Registry: Leber congenital amaurosis 12 - Genetic Testing Registry: Leber congenital amaurosis 13 - Genetic Testing Registry: Leber congenital amaurosis 14 - Genetic Testing Registry: Leber congenital amaurosis 2 - Genetic Testing Registry: Leber congenital amaurosis 3 - Genetic Testing Registry: Leber congenital amaurosis 4 - Genetic Testing Registry: Leber congenital amaurosis 5 - Genetic Testing Registry: Leber congenital amaurosis 9 - Genetic Testing Registry: Leber's amaurosis - National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Leber congenital amaurosis +What is (are) tibial muscular dystrophy ?,"Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking. Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives. A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms.",GHR,tibial muscular dystrophy +How many people are affected by tibial muscular dystrophy ?,"Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancestry.",GHR,tibial muscular dystrophy +What are the genetic changes related to tibial muscular dystrophy ?,"Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. Mutations in the TTN gene alter the structure and function of titin. Researchers suspect that these changes may disrupt titin's interactions with other proteins within sarcomeres. Mutations may also interfere with the protein's role in chemical signaling. The altered titin protein disrupts normal muscle contraction, which causes muscles to weaken and waste away over time. It is unclear why these effects are usually limited to muscles in the lower legs.",GHR,tibial muscular dystrophy +Is tibial muscular dystrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,tibial muscular dystrophy +What are the treatments for tibial muscular dystrophy ?,These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,tibial muscular dystrophy +What is (are) pseudohypoaldosteronism type 1 ?,"Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone. There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited. One type, called autosomal dominant PHA1 (also known as renal PHA1) is characterized by excessive sodium loss from the kidneys. This form of the condition is relatively mild and often improves in early childhood. The other type, called autosomal recessive PHA1 (also known as generalized or systemic PHA1) is characterized by sodium loss from the kidneys and other organs, including the sweat glands, salivary glands, and colon. This type of PHA1 is more severe and does not improve with age. The earliest signs of both types of PHA1 are usually the inability to gain weight and grow at the expected rate (failure to thrive) and dehydration, which are typically seen in infants. The characteristic features of both types of PHA1 are excessive amounts of sodium released in the urine (salt wasting), which leads to low levels of sodium in the blood (hyponatremia), and high levels of potassium in the blood (hyperkalemia). Infants with PHA1 can also have high levels of acid in the blood (metabolic acidosis). Hyponatremia, hyperkalemia, or metabolic acidosis can cause nonspecific symptoms such as nausea, vomiting, extreme tiredness (fatigue), and muscle weakness in infants with PHA1. Infants with autosomal recessive PHA1 can have additional signs and symptoms due to the involvement of multiple organs. Affected individuals may experience episodes of abnormal heartbeat (cardiac arrhythmia) or shock because of the imbalance of salts in the body. They may also have recurrent lung infections or lesions on the skin. Although adults with autosomal recessive PHA1 can have repeated episodes of salt wasting, they do not usually have other signs and symptoms of the condition.",GHR,pseudohypoaldosteronism type 1 +How many people are affected by pseudohypoaldosteronism type 1 ?,"PHA1 is a rare condition that has been estimated to affect 1 in 80,000 newborns.",GHR,pseudohypoaldosteronism type 1 +What are the genetic changes related to pseudohypoaldosteronism type 1 ?,"Mutations in one of four different genes involved in sodium regulation cause autosomal dominant or autosomal recessive PHA1. Mutations in the NR3C2 gene cause autosomal dominant PHA1. This gene provides instructions for making the mineralocorticoid receptor protein. Mutations in the SCNN1A, SCNN1B, or SCNN1G genes cause autosomal recessive PHA1. Each of these three genes provides instructions for making one of the pieces (subunits) of a protein complex called the epithelial sodium channel (ENaC). The mineralocorticoid receptor regulates specialized proteins in the cell membrane that control the transport of sodium or potassium into cells. In response to signals that sodium levels are low, such as the presence of the hormone aldosterone, the mineralocorticoid receptor increases the number and activity of these proteins at the cell membrane of certain kidney cells. One of these proteins is ENaC, which transports sodium into the cell; another protein simultaneously transports sodium out of the cell and potassium into the cell. These proteins help keep sodium in the body through a process called reabsorption and remove potassium from the body through a process called secretion. Mutations in the NR3C2 gene lead to a nonfunctional or abnormally functioning mineralocorticoid receptor protein that cannot properly regulate the specialized proteins that transport sodium and potassium. As a result, sodium reabsorption and potassium secretion are both decreased, causing hyponatremia and hyperkalemia. Mutations in the SCNN1A, SCNN1B, and SCNN1G genes result in reduced functioning or nonfunctioning ENaC channels. As in autosomal dominant PHA1, the reduction or absence of ENaC function in the kidneys leads to hyponatremia and hyperkalemia. In addition, nonfunctional ENaC channels in other body systems lead to additional signs and symptoms of autosomal recessive PHA1, including lung infections and skin lesions.",GHR,pseudohypoaldosteronism type 1 +Is pseudohypoaldosteronism type 1 inherited ?,"PHA1 can have different inheritance patterns. When the condition is caused by mutations in the NR3C2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When PHA1 is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pseudohypoaldosteronism type 1 +What are the treatments for pseudohypoaldosteronism type 1 ?,These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlinePlus Encyclopedia: Hyponatremia - University of Maryland Medical Center: Hyperkalemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pseudohypoaldosteronism type 1 +What is (are) autosomal recessive congenital stationary night blindness ?,"Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.",GHR,autosomal recessive congenital stationary night blindness +How many people are affected by autosomal recessive congenital stationary night blindness ?,"Autosomal recessive congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.",GHR,autosomal recessive congenital stationary night blindness +What are the genetic changes related to autosomal recessive congenital stationary night blindness ?,"Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain. Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness. Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments. Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown.",GHR,autosomal recessive congenital stationary night blindness +Is autosomal recessive congenital stationary night blindness inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive congenital stationary night blindness +What are the treatments for autosomal recessive congenital stationary night blindness ?,"These resources address the diagnosis or management of autosomal recessive congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness, type 1B - Genetic Testing Registry: Congenital stationary night blindness, type 1C - Genetic Testing Registry: Congenital stationary night blindness, type 1D - Genetic Testing Registry: Congenital stationary night blindness, type 1E - Genetic Testing Registry: Congenital stationary night blindness, type 1F - Genetic Testing Registry: Congenital stationary night blindness, type 2B These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autosomal recessive congenital stationary night blindness +What is (are) craniometaphyseal dysplasia ?,"Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal. Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent (non-erupting) teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. There are two types of craniometaphyseal dysplasia, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types. Autosomal recessive craniometaphyseal dysplasia is typically more severe than the autosomal dominant form.",GHR,craniometaphyseal dysplasia +How many people are affected by craniometaphyseal dysplasia ?,Craniometaphyseal dysplasia is a very rare disorder; its incidence is unknown.,GHR,craniometaphyseal dysplasia +What are the genetic changes related to craniometaphyseal dysplasia ?,"Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear. The genetic cause of autosomal recessive craniometaphyseal dysplasia is unknown. Researchers believe that mutations in an unidentified gene on chromosome 6 may be responsible for the autosomal recessive form of this condition.",GHR,craniometaphyseal dysplasia +Is craniometaphyseal dysplasia inherited ?,"Craniometaphyseal dysplasia can have different inheritance patterns. In most cases this condition is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, craniometaphyseal dysplasia is suspected to have autosomal recessive inheritance when unaffected parents have more than one child with the condition. Autosomal recessive disorders are caused by mutations in both copies of a gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the disorder.",GHR,craniometaphyseal dysplasia +What are the treatments for craniometaphyseal dysplasia ?,"These resources address the diagnosis or management of craniometaphyseal dysplasia: - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type - MedlinePlus Encyclopedia: Facial Paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,craniometaphyseal dysplasia +What is (are) atelosteogenesis type 3 ?,"Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.) Individuals with atelosteogenesis type 3 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure. Some affected individuals survive longer, usually with intensive medical support. They typically experience further respiratory problems as a result of weakness of the airways that can lead to partial closing, short pauses in breathing (apnea), or frequent infections. People with atelosteogenesis type 3 who survive past the newborn period may have learning disabilities and delayed language skills, which are probably caused by low levels of oxygen in the brain due to respiratory problems. As a result of their orthopedic abnormalities, they also have delayed development of motor skills such as standing and walking.",GHR,atelosteogenesis type 3 +How many people are affected by atelosteogenesis type 3 ?,Atelosteogenesis type 3 is a rare disorder; its exact prevalence is unknown. About two dozen affected individuals have been identified.,GHR,atelosteogenesis type 3 +What are the genetic changes related to atelosteogenesis type 3 ?,"Mutations in the FLNB gene cause atelosteogenesis type 3. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause atelosteogenesis type 3 change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of atelosteogenesis type 3.",GHR,atelosteogenesis type 3 +Is atelosteogenesis type 3 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,atelosteogenesis type 3 +What are the treatments for atelosteogenesis type 3 ?,These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,atelosteogenesis type 3 +What is (are) hereditary sensory and autonomic neuropathy type V ?,"Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.",GHR,hereditary sensory and autonomic neuropathy type V +How many people are affected by hereditary sensory and autonomic neuropathy type V ?,HSAN5 is very rare. Only a few people with the condition have been identified.,GHR,hereditary sensory and autonomic neuropathy type V +What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ?,"Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGF protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGF signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.",GHR,hereditary sensory and autonomic neuropathy type V +Is hereditary sensory and autonomic neuropathy type V inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary sensory and autonomic neuropathy type V +What are the treatments for hereditary sensory and autonomic neuropathy type V ?,These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary sensory and autonomic neuropathy type V +What is (are) cyclic vomiting syndrome ?,"Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age. The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 days. An affected person may vomit several times per hour, potentially leading to a dangerous loss of fluids (dehydration). Additional symptoms can include unusually pale skin (pallor), abdominal pain, diarrhea, headache, fever, and an increased sensitivity to light (photophobia) or to sound (phonophobia). In most affected people, the signs and symptoms of each attack are quite similar. These attacks can be debilitating, making it difficult for an affected person to go to work or school. Episodes of nausea, vomiting, and lethargy can occur regularly or apparently at random, or can be triggered by a variety of factors. The most common triggers are emotional excitement and infections. Other triggers can include periods without eating (fasting), temperature extremes, lack of sleep, overexertion, allergies, ingesting certain foods or alcohol, and menstruation. If the condition is not treated, episodes usually occur four to 12 times per year. Between attacks, vomiting is absent, and nausea is either absent or much reduced. However, many affected people experience other symptoms during and between episodes, including pain, lethargy, digestive disorders such as gastroesophageal reflux and irritable bowel syndrome, and fainting spells (syncope). People with cyclic vomiting syndrome are also more likely than people without the disorder to experience depression, anxiety, and panic disorder. It is unclear whether these health conditions are directly related to nausea and vomiting. Cyclic vomiting syndrome is often considered to be a variant of migraines, which are severe headaches often associated with pain, nausea, vomiting, and extreme sensitivity to light and sound. Cyclic vomiting syndrome is likely the same as or closely related to a condition called abdominal migraine, which is characterized by attacks of stomach pain and cramping. Attacks of nausea, vomiting, or abdominal pain in childhood may be replaced by migraine headaches as an affected person gets older. Many people with cyclic vomiting syndrome or abdominal migraine have a family history of migraines. Most people with cyclic vomiting syndrome have normal intelligence, although some affected people have developmental delay or intellectual disability. Autism spectrum disorders, which affect communication and social interaction, have also been associated with cyclic vomiting syndrome. Additionally, muscle weakness (myopathy) and seizures are possible. People with any of these additional features are said to have cyclic vomiting syndrome plus.",GHR,cyclic vomiting syndrome +How many people are affected by cyclic vomiting syndrome ?,"The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children. The condition is diagnosed less frequently in adults, although recent studies suggest that the condition may begin in adulthood as commonly as it begins in childhood.",GHR,cyclic vomiting syndrome +What are the genetic changes related to cyclic vomiting syndrome ?,"Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic vomiting syndrome is a migraine-like condition, which suggests that it is related to changes in signaling between nerve cells (neurons) in certain areas of the brain. Many affected individuals have abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, blood pressure, and digestion. Based on these abnormalities, cystic vomiting syndrome is often classified as a type of dysautonomia. Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Several changes in mitochondrial DNA have been associated with cyclic vomiting syndrome. Some of these changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. These changes likely impair the ability of mitochondria to produce energy. Researchers speculate that the impaired mitochondria may cause certain cells of the autonomic nervous system to malfunction, which could affect the digestive system. However, it remains unclear how changes in mitochondrial function could cause episodes of nausea, vomiting, and lethargy; abdominal pain; or migraines in people with this condition.",GHR,cyclic vomiting syndrome +Is cyclic vomiting syndrome inherited ?,"In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. This family history suggests an inheritance pattern known as maternal inheritance or mitochondrial inheritance, which applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Occasionally, people with cyclic vomiting syndrome have a family history of the disorder that does not follow maternal inheritance. In these cases, the inheritance pattern is unknown.",GHR,cyclic vomiting syndrome +What are the treatments for cyclic vomiting syndrome ?,These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cyclic vomiting syndrome +What is (are) myoclonic epilepsy with ragged-red fibers ?,"Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, called lipomas, just under the surface of the skin.",GHR,myoclonic epilepsy with ragged-red fibers +How many people are affected by myoclonic epilepsy with ragged-red fibers ?,"MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.",GHR,myoclonic epilepsy with ragged-red fibers +What are the genetic changes related to myoclonic epilepsy with ragged-red fibers ?,"Mutations in the MT-TK gene are the most common cause of MERRF, occurring in more than 80 percent of all cases. Less frequently, mutations in the MT-TL1, MT-TH, and MT-TS1 genes have been reported to cause the signs and symptoms of MERRF. People with mutations in the MT-TL1, MT-TH, or MT-TS1 gene typically have signs and symptoms of other mitochondrial disorders as well as those of MERRF. The MT-TK, MT-TL1, MT-TH, and MT-TS1 genes are contained in mitochondrial DNA (mtDNA). Mitochondria are structures within cells that use oxygen to convert the energy from food into a form cells can use through a process called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. The genes associated with MERRF provide instructions for making molecules called transfer RNAs, which are chemical cousins of DNA. These molecules help assemble protein building blocks called amino acids into full-length, functioning proteins within mitochondria. These proteins perform the steps of oxidative phosphorylation. Mutations that cause MERRF impair the ability of mitochondria to make proteins, use oxygen, and produce energy. These mutations particularly affect organs and tissues with high energy requirements, such as the brain and muscles. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MERRF. A small percentage of MERRF cases are caused by mutations in other mitochondrial genes, and in some cases the cause of the condition is unknown.",GHR,myoclonic epilepsy with ragged-red fibers +Is myoclonic epilepsy with ragged-red fibers inherited ?,"MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In most cases, people with MERRF inherit an altered mitochondrial gene from their mother, who may or may not show symptoms of the disorder. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MERRF.",GHR,myoclonic epilepsy with ragged-red fibers +What are the treatments for myoclonic epilepsy with ragged-red fibers ?,These resources address the diagnosis or management of MERRF: - Gene Review: Gene Review: MERRF - Genetic Testing Registry: Myoclonus with epilepsy with ragged red fibers - Kennedy Krieger Institute: Mitochondrial Disorders - MedlinePlus Encyclopedia: Lipoma - MedlinePlus Encyclopedia: Optic nerve atrophy - MedlinePlus Encyclopedia: Peripheral Neuropathy - MitoAction: Tips and Tools for Living with Mito - United Mitochondrial Disease Foundation: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myoclonic epilepsy with ragged-red fibers +What is (are) familial male-limited precocious puberty ?,"Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.",GHR,familial male-limited precocious puberty +How many people are affected by familial male-limited precocious puberty ?,Familial male-limited precocious puberty is a rare disorder; its prevalence is unknown.,GHR,familial male-limited precocious puberty +What are the genetic changes related to familial male-limited precocious puberty ?,"Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue. Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females. Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.",GHR,familial male-limited precocious puberty +Is familial male-limited precocious puberty inherited ?,"This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. In some cases, an affected male inherits the mutation from either his mother or his father. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family.",GHR,familial male-limited precocious puberty +What are the treatments for familial male-limited precocious puberty ?,These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial male-limited precocious puberty +What is (are) glucose phosphate isomerase deficiency ?,"Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder. Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections. A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).",GHR,glucose phosphate isomerase deficiency +How many people are affected by glucose phosphate isomerase deficiency ?,GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature.,GHR,glucose phosphate isomerase deficiency +What are the genetic changes related to glucose phosphate isomerase deficiency ?,"GPI deficiency is caused by mutations in the GPI gene, which provides instructions for making an enzyme called glucose phosphate isomerase (GPI). This enzyme has two distinct functions based on its structure. When two GPI molecules form a complex (a homodimer), the enzyme plays a role in a critical energy-producing process known as glycolysis, also called the glycolytic pathway. During glycolysis, the simple sugar glucose is broken down to produce energy. Specifically, GPI is involved in the second step of the glycolytic pathway; in this step, a molecule called glucose-6-phosphate is converted to another molecule called fructose-6-phosphate. When GPI remains a single molecule (a monomer) it is involved in the development and maintenance of nerve cells (neurons). In this context, it is often known as neuroleukin (NLK). Some GPI gene mutations may result in a less stable homodimer, impairing the activity of the enzyme in the glycolytic pathway. The resulting imbalance of molecules involved in the glycolytic pathway eventually impairs the ability of red blood cells to maintain their structure, leading to hemolysis. Other GPI gene mutations may cause the monomer to break down more easily, thereby interfering with its function in nerve cells. In addition, the shortage of monomers hinders homodimer formation, which impairs the glycolytic pathway. These mutations have been identified in individuals with GPI deficiency who have both hemolytic anemia and neurological problems.",GHR,glucose phosphate isomerase deficiency +Is glucose phosphate isomerase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glucose phosphate isomerase deficiency +What are the treatments for glucose phosphate isomerase deficiency ?,"These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glucose phosphate isomerase deficiency +What is (are) Winchester syndrome ?,"Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders. In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities later spread to other parts of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with Winchester syndrome develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. Some people with Winchester syndrome have skin abnormalities including patches of dark, thick, and leathery skin. Other features of the condition can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as ""coarse.""",GHR,Winchester syndrome +How many people are affected by Winchester syndrome ?,Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide.,GHR,Winchester syndrome +What are the genetic changes related to Winchester syndrome ?,"Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities and functions, including promoting cell growth and stimulating cell movement (migration). Matrix metallopeptidase 14 also turns on (activates) a protein called matrix metallopeptidase 2. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it. Mutations in the MMP14 gene alter matrix metallopeptidase 14 so that less of the enzyme is able to reach the cell surface. As a result, not enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix metallopeptidase 2 activation somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, causing a progressive loss of bone tissue. How a reduced amount of matrix metallopeptidase 14 leads to the other features of Winchester syndrome is unknown.",GHR,Winchester syndrome +Is Winchester syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Winchester syndrome +What are the treatments for Winchester syndrome ?,These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Winchester syndrome +What is (are) congenital neuronal ceroid lipofuscinosis ?,"Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals have seizure activity before birth. Infants with congenital NCL have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement and control thinking and emotions (the cerebellum and the cerebral cortex). Affected individuals also lack a fatty substance called myelin, which protects nerve cells and promotes efficient transmission of nerve impulses. Infants with congenital NCL often die hours to weeks after birth. Congenital NCL is the most severe form of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.",GHR,congenital neuronal ceroid lipofuscinosis +How many people are affected by congenital neuronal ceroid lipofuscinosis ?,Congenital NCL is the rarest type of NCL; approximately 10 cases have been described.,GHR,congenital neuronal ceroid lipofuscinosis +What are the genetic changes related to congenital neuronal ceroid lipofuscinosis ?,"Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis). CTSD gene mutations that cause congenital NCL lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and other materials are not broken down properly. In the lysosomes, these materials accumulate into fatty substances called lipopigments. These accumulations occur in cells throughout the body, but neurons are likely particularly vulnerable to damage caused by the abnormal cell materials and the loss of cathepsin D function. Early and widespread cell death in congenital NCL leads to severe signs and symptoms and death in infancy.",GHR,congenital neuronal ceroid lipofuscinosis +Is congenital neuronal ceroid lipofuscinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital neuronal ceroid lipofuscinosis +What are the treatments for congenital neuronal ceroid lipofuscinosis ?,"These resources address the diagnosis or management of congenital neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Neuronal ceroid lipofuscinosis, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital neuronal ceroid lipofuscinosis +What is (are) fragile X syndrome ?,"Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.",GHR,fragile X syndrome +How many people are affected by fragile X syndrome ?,"Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.",GHR,fragile X syndrome +What are the genetic changes related to fragile X syndrome ?,"Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses. Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment turns off (silences) the FMR1 gene, which prevents the gene from producing FMRP. Loss or a shortage (deficiency) of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome. Males and females with 55 to 200 repeats of the CGG segment are said to have an FMR1 gene premutation. Most people with a premutation are intellectually normal. In some cases, however, individuals with a premutation have lower than normal amounts of FMRP. As a result, they may have mild versions of the physical features seen in fragile X syndrome (such as prominent ears) and may experience emotional problems such as anxiety or depression. Some children with a premutation may have learning disabilities or autistic-like behavior. The premutation is also associated with an increased risk of disorders called fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS).",GHR,fragile X syndrome +Is fragile X syndrome inherited ?,"Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. In women, the FMR1 gene premutation on the X chromosome can expand to more than 200 CGG repeats in cells that develop into eggs. This means that women with the premutation have an increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does not expand to more than 200 repeats as it is passed to the next generation. Men pass the premutation only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene.",GHR,fragile X syndrome +What are the treatments for fragile X syndrome ?,These resources address the diagnosis or management of fragile X syndrome: - Gene Review: Gene Review: FMR1-Related Disorders - GeneFacts: Fragile X Syndrome: Diagnosis - GeneFacts: Fragile X Syndrome: Management - Genetic Testing Registry: Fragile X syndrome - MedlinePlus Encyclopedia: Fragile X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fragile X syndrome +What is (are) spinocerebellar ataxia type 1 ?,"Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment). Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years. Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.",GHR,spinocerebellar ataxia type 1 +How many people are affected by spinocerebellar ataxia type 1 ?,"SCA1 affects 1 to 2 per 100,000 people worldwide.",GHR,spinocerebellar ataxia type 1 +What are the genetic changes related to spinocerebellar ataxia type 1 ?,"Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA. The ATXN1 gene mutations that cause SCA1 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 39 times within the gene. In people with SCA1, the CAG segment is repeated 40 to more than 80 times. People with 40 to 50 repeats tend to first experience signs and symptoms of SCA1 in mid-adulthood, while people with more than 70 repeats usually have signs and symptoms by their teens. An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-1 protein that folds into the wrong 3-dimensional shape. This abnormal protein clusters with other proteins to form clumps (aggregates) within the nucleus of the cells. These aggregates prevent the ataxin-1 protein from functioning normally, which damages cells and leads to cell death. For reasons that are unclear, aggregates of ataxin-1 are found only in the brain and spinal cord (central nervous system). Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to changes in ataxin-1 shape and function. Over time, the loss of the cells of the cerebellum causes the movement problems characteristic of SCA1.",GHR,spinocerebellar ataxia type 1 +Is spinocerebellar ataxia type 1 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder. As the altered ATXN1 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN1 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance). Individuals who have around 35 CAG repeats in the ATXN1 gene do not develop SCA1, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with SCA1 (40 repeats or more).",GHR,spinocerebellar ataxia type 1 +What are the treatments for spinocerebellar ataxia type 1 ?,These resources address the diagnosis or management of SCA1: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 1 - Genetic Testing Registry: Spinocerebellar ataxia 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinocerebellar ataxia type 1 +What is (are) Floating-Harbor syndrome ?,"Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. Growth deficiency in people with Floating-Harbor syndrome generally becomes apparent in the first year of life, and affected individuals are usually among the shortest 5 percent of their age group. Bone age is delayed in early childhood; for example, an affected 3-year-old child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12. Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability. Their development of motor skills, such as sitting and crawling, is similar to that of other children their age. Typical facial features in people with Floating-Harbor syndrome include a triangular face; a low hairline; deep-set eyes; long eyelashes; a large, distinctive nose with a low-hanging separation (overhanging columella) between large nostrils; a shortened distance between the nose and upper lip (a short philtrum); and thin lips. As affected children grow and mature, the nose becomes more prominent. Additional features that have occurred in some affected individuals include short fingers and toes (brachydactyly); widened and rounded tips of the fingers (clubbing); curved pinky fingers (fifth finger clinodactyly); an unusually high-pitched voice; and, in males, undescended testes (cryptorchidism).",GHR,Floating-Harbor syndrome +How many people are affected by Floating-Harbor syndrome ?,Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.,GHR,Floating-Harbor syndrome +What are the genetic changes related to Floating-Harbor syndrome ?,"Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development. Mutations in the SRCAP gene may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown. Rubinstein-Taybi syndrome, a disorder with similar features, is caused by mutations in the CREBBP gene itself.",GHR,Floating-Harbor syndrome +Is Floating-Harbor syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Floating-Harbor syndrome result from new mutations in the gene and occur in people with no history of the disorder in their family. However, in some cases an affected person inherits the mutation from one affected parent.",GHR,Floating-Harbor syndrome +What are the treatments for Floating-Harbor syndrome ?,These resources address the diagnosis or management of Floating-Harbor syndrome: - Gene Review: Gene Review: Floating-Harbor Syndrome - Genetic Testing Registry: Floating-Harbor syndrome - KidsHealth: Bone Age Study These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Floating-Harbor syndrome +What is (are) multiple sulfatase deficiency ?,"Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as ""coarse."" Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time. The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency. Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen.",GHR,multiple sulfatase deficiency +How many people are affected by multiple sulfatase deficiency ?,Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature.,GHR,multiple sulfatase deficiency +What are the genetic changes related to multiple sulfatase deficiency ?,"Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones. Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency. Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency.",GHR,multiple sulfatase deficiency +Is multiple sulfatase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,multiple sulfatase deficiency +What are the treatments for multiple sulfatase deficiency ?,These resources address the diagnosis or management of multiple sulfatase deficiency: - Genetic Testing Registry: Multiple sulfatase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple sulfatase deficiency +What is (are) citrullinemia ?,"Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes. Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. These medical problems are life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, problems with balance and muscle coordination (ataxia), and lethargy. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder. Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. In some cases, the signs and symptoms of this disorder appear during adulthood (adult-onset). These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, surgery, and alcohol intake in people with adult-onset type II citrullinemia. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.",GHR,citrullinemia +How many people are affected by citrullinemia ?,"Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from East Asia and the Middle East.",GHR,citrullinemia +What are the genetic changes related to citrullinemia ?,"Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body. The excess nitrogen is used to make a compound called urea, which is excreted in urine. Mutations in the ASS1 gene cause type I citrullinemia. This gene provides instructions for making an enzyme, argininosuccinate synthase 1, that is responsible for one step of the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in type I citrullinemia. Mutations in the SLC25A13 gene are responsible for adult-onset type II citrullinemia and NICCD. This gene provides instructions for making a protein called citrin. Within cells, citrin helps transport molecules used in the production and breakdown of simple sugars, the production of proteins, and the urea cycle. Molecules transported by citrin are also involved in making nucleotides, which are the building blocks of DNA and its chemical cousin, RNA. Mutations in the SLC25A13 gene typically prevent cells from making any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides. The resulting buildup of ammonia and other toxic substances leads to the signs and symptoms of adult-onset type II citrullinemia. A lack of citrin also leads to the features of NICCD, although ammonia does not build up in the bloodstream of infants with this condition.",GHR,citrullinemia +Is citrullinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,citrullinemia +What are the treatments for citrullinemia ?,"These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Citrullinemia type I - Genetic Testing Registry: Citrullinemia type II - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,citrullinemia +What is (are) hereditary myopathy with early respiratory failure ?,"Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing. The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among the earliest muscles affected in HMERF are the neck flexors, which are muscles at the front of the neck that help hold the head up. Other proximal muscles that become weak in people with HMERF include those of the hips, thighs, and upper arms. Some affected individuals have also reported weakness in muscles of the lower leg and foot called the dorsal foot extensors. HMERF also causes severe weakness in muscles of the chest that are involved in breathing, particularly the diaphragm. This weakness leads to breathing problems and life-threatening respiratory failure.",GHR,hereditary myopathy with early respiratory failure +How many people are affected by hereditary myopathy with early respiratory failure ?,"HMERF is a rare condition. It has been reported in several families of Swedish and French descent, and in at least one individual from Italy.",GHR,hereditary myopathy with early respiratory failure +What are the genetic changes related to hereditary myopathy with early respiratory failure ?,"HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutation responsible for HMERF leads to the production of an altered version of the titin protein. Studies suggest that this change may disrupt titin's interactions with other proteins within sarcomeres and interfere with the protein's role in chemical signaling. Consequently, muscle fibers become damaged and weaken over time. It is unclear why these effects are usually limited to proximal muscles and muscles involved in breathing. Some people with the characteristic features of HMERF do not have identified mutations in the TTN gene. In these cases, the genetic cause of the condition is unknown.",GHR,hereditary myopathy with early respiratory failure +Is hereditary myopathy with early respiratory failure inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary myopathy with early respiratory failure +What are the treatments for hereditary myopathy with early respiratory failure ?,"These resources address the diagnosis or management of HMERF: - Gene Review: Gene Review: Hereditary Myopathy with Early Respiratory Failure (HMERF) - Genetic Testing Registry: Hereditary myopathy with early respiratory failure - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Diagnosed? - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hereditary myopathy with early respiratory failure +What is (are) Carpenter syndrome ?,"Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur. Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger. People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability. Other features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism). A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow. The signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable. The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.",GHR,Carpenter syndrome +How many people are affected by Carpenter syndrome ?,Carpenter syndrome is thought to be a rare condition; approximately 70 cases have been described in the scientific literature.,GHR,Carpenter syndrome +What are the genetic changes related to Carpenter syndrome ?,"Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome. The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. The Rab23 protein transports vesicles from the cell membrane to their proper location inside the cell. Vesicle trafficking is important for the transport of materials that are needed to trigger signaling during development. For example, the Rab23 protein regulates a developmental pathway called the hedgehog signaling pathway that is critical in cell growth (proliferation), cell specialization, and the normal shaping (patterning) of many parts of the body. The MEGF8 gene provides instructions for making a protein whose function is unclear. Based on its structure, the Megf8 protein may be involved in cell processes such as sticking cells together (cell adhesion) and helping proteins interact with each other. Researchers also suspect that the Megf8 protein plays a role in normal body patterning. Mutations in the RAB23 or MEGF8 gene lead to the production of proteins with little or no function. It is unclear how disruptions in protein function lead to the features of Carpenter syndrome, but it is likely that interference with normal body patterning plays a role. For reasons that are unknown, people with MEGF8 gene mutations are more likely to have dextrocardia and other organ positioning abnormalities and less severe craniosynostosis than individuals with RAB23 gene mutations.",GHR,Carpenter syndrome +Is Carpenter syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Carpenter syndrome +What are the treatments for Carpenter syndrome ?,These resources address the diagnosis or management of Carpenter syndrome: - Genetic Testing Registry: Carpenter syndrome 1 - Genetic Testing Registry: Carpenter syndrome 2 - Great Ormond Street Hospital for Children (UK): Craniosynostosis Information - Johns Hopkins Medicine: Craniosynostosis Treatment Options - MedlinePlus Encyclopedia: Craniosynostosis Repair - MedlinePlus Encyclopedia: Dextrocardia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Carpenter syndrome +What is (are) lacrimo-auriculo-dento-digital syndrome ?,"Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears. Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors). Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement. People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.",GHR,lacrimo-auriculo-dento-digital syndrome +How many people are affected by lacrimo-auriculo-dento-digital syndrome ?,LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature.,GHR,lacrimo-auriculo-dento-digital syndrome +What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ?,"Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome. The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of proteins that attaches (binds) to fibroblast growth factor receptors. The receptors are located within the membranes of cells, where they receive signals that control growth and development from growth factors outside the cell. The signals triggered by the FGFR2, FGFR3, and FGF10 genes appear to stimulate cells to form the structures that make up the lacrimal glands, salivary glands, ears, skeleton, and many other organs. Mutations in the FGFR2, FGFR3, or FGF10 gene alter the proteins produced from these genes and disrupt the signaling within cells. As a result, cell maturation and development is impaired and the formation of many tissues is affected, leading to the signs and symptoms of LADD syndrome.",GHR,lacrimo-auriculo-dento-digital syndrome +Is lacrimo-auriculo-dento-digital syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,lacrimo-auriculo-dento-digital syndrome +What are the treatments for lacrimo-auriculo-dento-digital syndrome ?,These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry: Levy-Hollister syndrome - Monroe Carell Jr. Children's Hospital at Vanderbilt: Blocked Tear Duct (Dacryostenosis) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lacrimo-auriculo-dento-digital syndrome +What is (are) intranuclear rod myopathy ?,"Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as ""floppy"" and may be unable to move on their own. The severe muscle weakness that occurs in intranuclear rod myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking. The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in the nucleus of muscle cells when muscle tissue is viewed under a microscope.",GHR,intranuclear rod myopathy +How many people are affected by intranuclear rod myopathy ?,Intranuclear rod myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.,GHR,intranuclear rod myopathy +What are the genetic changes related to intranuclear rod myopathy ?,"Intranuclear rod myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract. ACTA1 gene mutations that cause intranuclear rod myopathy result in the accumulation of rods of skeletal -actin in the nucleus of muscle cells. Normally, most actin is found in the fluid surrounding the nucleus (the cytoplasm), with small amounts in the nucleus itself. Researchers suggest that the ACTA1 gene mutations that cause intranuclear rod myopathy may interfere with the normal transport of actin between the nucleus and the cytoplasm, resulting in the accumulation of actin in the nucleus and the formation of intranuclear rods. Abnormal accumulation of actin in the nucleus of muscle cells and a corresponding reduction of available actin in muscle fibers may impair muscle contraction and lead to the muscle weakness seen in intranuclear rod myopathy. In some people with intranuclear rod myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.",GHR,intranuclear rod myopathy +Is intranuclear rod myopathy inherited ?,"Intranuclear rod myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,intranuclear rod myopathy +What are the treatments for intranuclear rod myopathy ?,These resources address the diagnosis or management of intranuclear rod myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,intranuclear rod myopathy +What is (are) prion disease ?,"Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.",GHR,prion disease +How many people are affected by prion disease ?,"These disorders are very rare. Although the exact prevalence of prion disease is unknown, studies suggest that this group of conditions affects about one person per million worldwide each year. Approximately 350 new cases are reported annually in the United States.",GHR,prion disease +What are the genetic changes related to prion disease ?,"Between 10 and 15 percent of all cases of prion disease are caused by mutations in the PRNP gene. Because they can run in families, these forms of prion disease are classified as familial. Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Strussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). The PRNP gene provides instructions for making a protein called prion protein (PrP). Although the precise function of this protein is unknown, researchers have proposed roles in several important processes. These include the transport of copper into cells, protection of brain cells (neurons) from injury (neuroprotection), and communication between neurons. In familial forms of prion disease, PRNP gene mutations result in the production of an abnormally shaped protein, known as PrPSc, from one copy of the gene. In a process that is not fully understood, PrPSc can attach (bind) to the normal protein (PrPC) and promote its transformation into PrPSc. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. The loss of these cells creates microscopic sponge-like holes (vacuoles) in the brain, which leads to the signs and symptoms of prion disease. The other 85 to 90 percent of cases of prion disease are classified as either sporadic or acquired. People with sporadic prion disease have no family history of the disease and no identified mutation in the PRNP gene. Sporadic disease occurs when PrPC spontaneously, and for unknown reasons, is transformed into PrPSc. Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease-sensitive prionopathy (VPSPr). Acquired prion disease results from exposure to PrPSc from an outside source. For example, variant Creutzfeldt-Jakob disease (vCJD) is a type of acquired prion disease in humans that results from eating beef products containing PrPSc from cattle with prion disease. In cows, this form of the disease is known as bovine spongiform encephalopathy (BSE) or, more commonly, ""mad cow disease."" Another example of an acquired human prion disease is kuru, which was identified in the South Fore population in Papua New Guinea. The disorder was transmitted when individuals ate affected human tissue during cannibalistic funeral rituals. Rarely, prion disease can be transmitted by accidental exposure to PrPSc-contaminated tissues during a medical procedure. This type of prion disease, which accounts for 1 to 2 percent of all cases, is classified as iatrogenic.",GHR,prion disease +Is prion disease inherited ?,"Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Although such people do not have an affected parent, they can pass the genetic change to their children. The sporadic, acquired, and iatrogenic forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited.",GHR,prion disease +What are the treatments for prion disease ?,"These resources address the diagnosis or management of prion disease: - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care - Gene Review: Gene Review: Genetic Prion Diseases - Genetic Testing Registry: Genetic prion diseases - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease - MedlinePlus Encyclopedia: Kuru - University of California, San Fransisco Memory and Aging Center: Living With Creutzfeldt-Jakob Disease - University of California, San Fransisco Memory and Aging Center: Treatments for Creutzfeldt-Jakob Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,prion disease +What is (are) pseudoachondroplasia ?,"Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. Some people with pseudoachondroplasia have legs that turn outward or inward (valgus or varus deformity). Sometimes, one leg turns outward and the other inward, which is called windswept deformity. Some affected individuals have a spine that curves to the side (scoliosis) or an abnormally curved lower back (lordosis). People with pseudoachondroplasia have normal facial features, head size, and intelligence.",GHR,pseudoachondroplasia +How many people are affected by pseudoachondroplasia ?,"The exact prevalence of pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals.",GHR,pseudoachondroplasia +What are the genetic changes related to pseudoachondroplasia ?,"Mutations in the COMP gene cause pseudoachondroplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. The COMP protein is normally found in the spaces between cartilage-forming cells called chondrocytes, where it interacts with other proteins. COMP gene mutations result in the production of an abnormal COMP protein that cannot be transported out of the cell. The abnormal protein builds up inside the chondrocyte and ultimately leads to early cell death. Early death of the chondrocytes prevents normal bone growth and causes the short stature and bone abnormalities seen in pseudoachondroplasia.",GHR,pseudoachondroplasia +Is pseudoachondroplasia inherited ?,"Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,pseudoachondroplasia +What are the treatments for pseudoachondroplasia ?,These resources address the diagnosis or management of pseudoachondroplasia: - Gene Review: Gene Review: Pseudoachondroplasia - Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pseudoachondroplasia +What is (are) Ellis-van Creveld syndrome ?,"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.",GHR,Ellis-van Creveld syndrome +How many people are affected by Ellis-van Creveld syndrome ?,"In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia.",GHR,Ellis-van Creveld syndrome +What are the genetic changes related to Ellis-van Creveld syndrome ?,"Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. The mutations that cause Ellis-van Creveld syndrome result in the production of an abnormally small, nonfunctional version of the EVC or EVC2 protein. It is unclear how the defective proteins lead to the specific signs and symptoms of this condition. Studies suggest that they prevent normal Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the bones, teeth, and other parts of the body. Together, mutations in the EVC and EVC2 genes account for more than half of all cases of Ellis-van Creveld syndrome. The cause of the remaining cases is unknown.",GHR,Ellis-van Creveld syndrome +Is Ellis-van Creveld syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Ellis-van Creveld syndrome +What are the treatments for Ellis-van Creveld syndrome ?,These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Ellis-van Creveld syndrome +What is (are) Wolff-Parkinson-White syndrome ?,"Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria. People with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other arrhythmias. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia. Complications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition. Wolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), and tuberous sclerosis (a condition that results in the growth of noncancerous tumors in many parts of the body).",GHR,Wolff-Parkinson-White syndrome +How many people are affected by Wolff-Parkinson-White syndrome ?,"Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Only a small fraction of these cases appear to run in families. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is the most frequent cause of this abnormal heart rhythm in the Chinese population, where it is responsible for more than 70 percent of cases.",GHR,Wolff-Parkinson-White syndrome +What are the genetic changes related to Wolff-Parkinson-White syndrome ?,"Mutations in the PRKAG2 gene cause Wolff-Parkinson-White syndrome. A small percentage of all cases of Wolff-Parkinson-White syndrome are caused by mutations in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the heart (cardiac) muscle. The PRKAG2 gene provides instructions for making a protein that is part of an enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is likely involved in the development of the heart before birth, although its role in this process is unknown. Researchers are uncertain how PRKAG2 mutations lead to the development of Wolff-Parkinson-White syndrome and related heart abnormalities. Research suggests that these mutations alter the activity of AMP-activated protein kinase in the heart, although it is unclear whether the genetic changes overactivate the enzyme or reduce its activity. Studies indicate that changes in AMP-activated protein kinase activity allow a complex sugar called glycogen to build up abnormally within cardiac muscle cells. Other studies have found that altered AMP-activated protein kinase activity is related to changes in the regulation of certain ion channels in the heart. These channels, which transport positively charged atoms (ions) into and out of cardiac muscle cells, play critical roles in maintaining the heart's normal rhythm. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown.",GHR,Wolff-Parkinson-White syndrome +Is Wolff-Parkinson-White syndrome inherited ?,"Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typically has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, a person with familial Wolff-Parkinson-White syndrome has inherited the condition from an affected parent.",GHR,Wolff-Parkinson-White syndrome +What are the treatments for Wolff-Parkinson-White syndrome ?,These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wolff-Parkinson-White syndrome +What is (are) limb-girdle muscular dystrophy ?,"Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild. In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) ""stick out"" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.",GHR,limb-girdle muscular dystrophy +How many people are affected by limb-girdle muscular dystrophy ?,"It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.",GHR,limb-girdle muscular dystrophy +What are the genetic changes related to limb-girdle muscular dystrophy ?,"The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair. Some of the proteins produced from these genes assemble with other proteins into larger protein complexes. These complexes maintain the physical integrity of muscle tissue and allow the muscles to contract. Other proteins participate in cell signaling, cell membrane repair, or the removal of potentially toxic wastes from muscle cells. Limb-girdle muscular dystrophy is classified based on its inheritance pattern and genetic cause. Limb-girdle muscular dystrophy type 1 includes forms of the disorder that have an inheritance pattern called autosomal dominant. Mutations in the LMNA gene cause limb-girdle muscular dystrophy type 1B. Limb-girdle muscular dystrophy type 1C is one of a group of muscle disorders called caveolinopathies caused by mutations in the CAV3 gene. Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Dysferlinopathy, also called limb-girdle muscular dystrophy type 2B, is caused by mutations in the DYSF gene. Sarcoglycanopathies are forms of limb-girdle muscular dystrophy caused by mutations in the SGCA, SGCB, SGCG, and SGCD genes. These sarcoglycanopathies are known as limb-girdle muscular dystrophy types 2D, 2E, 2C, and 2F respectively. A TTN gene mutation causes limb-girdle muscular dystrophy type 2J, which has been identified only in the Finnish population. Mutations in the ANO5 gene cause limb-girdle muscular dystrophy type 2L. Mutations in several other genes cause forms of limb-girdle muscular dystrophy called dystroglycanopathies, including limb-girdle muscular dystrophy types 2I, 2K, 2M, and 2N. Other rare forms of limb-girdle muscular dystrophy are caused by mutations in several other genes, some of which have not been identified.",GHR,limb-girdle muscular dystrophy +Is limb-girdle muscular dystrophy inherited ?,"Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,limb-girdle muscular dystrophy +What are the treatments for limb-girdle muscular dystrophy ?,"These resources address the diagnosis or management of limb-girdle muscular dystrophy: - Cleveland Clinic - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview - Genetic Testing Registry: Limb-girdle muscular dystrophy - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 - Johns Hopkins Medicine - LGMD-Diagnosis.org These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,limb-girdle muscular dystrophy +What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement. Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the bones of the spine (vertebrae) from one another. The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.",GHR,cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +How many people are affected by cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"CARASIL appears to be a rare condition. It has been identified in about 50 people, primarily in Japan and China.",GHR,cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis). In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.",GHR,cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ?,"As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +What is (are) generalized arterial calcification of infancy ?,"Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly). People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets). Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination. As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.",GHR,generalized arterial calcification of infancy +How many people are affected by generalized arterial calcification of infancy ?,"The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.",GHR,generalized arterial calcification of infancy +What are the genetic changes related to generalized arterial calcification of infancy ?,"In about two-thirds of cases, GACI is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). Extracellular ATP is quickly broken down into other molecules called adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate is important in controlling calcification and other mineralization in the body. Mutations in the ENPP1 gene are thought to result in reduced availability of pyrophosphate, leading to excessive calcification in the body and causing the signs and symptoms of GACI. GACI can also be caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein called MRP6, also known as the ABCC6 protein. This protein is found primarily in the liver and kidneys, with small amounts in other tissues such as the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of ATP from cells through an unknown mechanism, allowing it to be broken down into AMP and pyrophosphate and helping to control deposition of calcium and other minerals in the body as described above. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein. It is unclear how a lack of properly functioning MRP6 protein leads to GACI. This shortage may impair the release of ATP from cells. As a result, little pyrophosphate is produced, and calcium accumulates in the blood vessels and other tissues affected by GACI. Alternatively, a lack of functioning MRP6 may impair the transport of a substance that would normally prevent mineralization, leading to the abnormal accumulation of calcium characteristic of GACI. Some people with GACI do not have mutations in the ENPP1 or ABCC6 gene. In these affected individuals, the cause of the disorder is unknown.",GHR,generalized arterial calcification of infancy +Is generalized arterial calcification of infancy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,generalized arterial calcification of infancy +What are the treatments for generalized arterial calcification of infancy ?,These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,generalized arterial calcification of infancy +What is (are) otopalatodigital syndrome type 1 ?,"Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a small, flat nose. Affected individuals also have hearing loss and chest deformities. They have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and unusually long second toes. Affected individuals may be born with an opening in the roof of the mouth (a cleft palate). They may have mildly bowed limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family. Males with this disorder often have more severe signs and symptoms than do females, who may show only the characteristic facial features.",GHR,otopalatodigital syndrome type 1 +How many people are affected by otopalatodigital syndrome type 1 ?,"Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown.",GHR,otopalatodigital syndrome type 1 +What are the genetic changes related to otopalatodigital syndrome type 1 ?,"Mutations in the FLNA gene cause otopalatodigital syndrome type 1. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 1. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 1 are described as ""gain-of-function"" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 1.",GHR,otopalatodigital syndrome type 1 +Is otopalatodigital syndrome type 1 inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,otopalatodigital syndrome type 1 +What are the treatments for otopalatodigital syndrome type 1 ?,"These resources address the diagnosis or management of otopalatodigital syndrome type 1: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type I These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,otopalatodigital syndrome type 1 +What is (are) oculodentodigital dysplasia ?,"Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.",GHR,oculodentodigital dysplasia +How many people are affected by oculodentodigital dysplasia ?,"The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.",GHR,oculodentodigital dysplasia +What are the genetic changes related to oculodentodigital dysplasia ?,"Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin43 proteins are found in many tissues throughout the body. GJA1 gene mutations result in abnormal connexin43 proteins. Channels formed with abnormal proteins are often permanently closed. Some mutations prevent connexin43 proteins from traveling to the cell surface where they are needed to form channels between cells. Impaired functioning of these channels disrupts cell-to-cell communication, which likely interferes with normal cell growth and cell specialization, processes that determine the shape and function of many different parts of the body. These developmental problems cause the signs and symptoms of oculodentodigital dysplasia.",GHR,oculodentodigital dysplasia +Is oculodentodigital dysplasia inherited ?,"Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, oculodentodigital dysplasia can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Fewer than ten cases of autosomal recessive oculodentodigital dysplasia have been reported.",GHR,oculodentodigital dysplasia +What are the treatments for oculodentodigital dysplasia ?,These resources address the diagnosis or management of oculodentodigital dysplasia: - Genetic Testing Registry: Oculodentodigital dysplasia - MedlinePlus Encyclopedia: Webbing of the fingers or toes - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,oculodentodigital dysplasia +What is (are) succinic semialdehyde dehydrogenase deficiency ?,"Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.",GHR,succinic semialdehyde dehydrogenase deficiency +How many people are affected by succinic semialdehyde dehydrogenase deficiency ?,Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide.,GHR,succinic semialdehyde dehydrogenase deficiency +What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ?,"Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.",GHR,succinic semialdehyde dehydrogenase deficiency +Is succinic semialdehyde dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,succinic semialdehyde dehydrogenase deficiency +What are the treatments for succinic semialdehyde dehydrogenase deficiency ?,These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency: - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency - MedlinePlus Encyclopedia: Hyperactivity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,succinic semialdehyde dehydrogenase deficiency +What is (are) Muenke syndrome ?,"Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible. The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.",GHR,Muenke syndrome +How many people are affected by Muenke syndrome ?,"Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.",GHR,Muenke syndrome +What are the genetic changes related to Muenke syndrome ?,"Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.",GHR,Muenke syndrome +Is Muenke syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Muenke syndrome +What are the treatments for Muenke syndrome ?,These resources address the diagnosis or management of Muenke syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Gene Review: Gene Review: Muenke Syndrome - Genetic Testing Registry: Muenke syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Muenke syndrome +What is (are) autoimmune Addison disease ?,"Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems. The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair. Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia). Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection. Individuals with autoimmune Addison disease or their family members often have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.",GHR,autoimmune Addison disease +How many people are affected by autoimmune Addison disease ?,"Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases.",GHR,autoimmune Addison disease +What are the genetic changes related to autoimmune Addison disease ?,"The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison disease participate in the body's immune response. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The most well-known risk factor for autoimmune Addison disease is a variant of the HLA-DRB1 gene called HLA-DRB1*04:04. This and other disease-associated HLA gene variants likely contribute to an inappropriate immune response that leads to autoimmune Addison disease, although the mechanism is unknown. Normally, the immune system responds only to proteins made by foreign invaders, not to the body's own proteins. In autoimmune Addison disease, however, an immune response is triggered by a normal adrenal gland protein, typically a protein called 21-hydroxylase. This protein plays a key role in producing certain hormones in the adrenal glands. The prolonged immune attack triggered by 21-hydroxylase damages the adrenal glands (specifically the outer layers of the glands known, collectively, as the adrenal cortex), preventing hormone production. A shortage of adrenal hormones (adrenal insufficiency) disrupts several normal functions in the body, leading to hypoglycemia, hyponatremia, hypotension, muscle cramps, skin hyperpigmentation and other features of autoimmune Addison disease. Rarely, Addison disease is not caused by an autoimmune reaction. Other causes include infections that damage the adrenal glands, such as tuberculosis, or tumors in the adrenal glands. Addison disease can also be one of several features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are caused by mutations in other genes.",GHR,autoimmune Addison disease +Is autoimmune Addison disease inherited ?,"A predisposition to develop autoimmune Addison disease is passed through generations in families, but the inheritance pattern is unknown.",GHR,autoimmune Addison disease +What are the treatments for autoimmune Addison disease ?,These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autoimmune Addison disease +What is (are) peroxisomal acyl-CoA oxidase deficiency ?,"Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals. Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.",GHR,peroxisomal acyl-CoA oxidase deficiency +How many people are affected by peroxisomal acyl-CoA oxidase deficiency ?,Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature.,GHR,peroxisomal acyl-CoA oxidase deficiency +What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ?,"Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The peroxisomal straight-chain acyl-CoA oxidase enzyme plays a role in the breakdown of certain fat molecules called very long-chain fatty acids (VLCFAs). Specifically, it is involved in the first step of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the VLCFA molecules by two carbon atoms at a time until the VLCFAs are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell. ACOX1 gene mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. It is unclear exactly how VLCFA accumulation leads to the specific features of peroxisomal acyl-CoA oxidase deficiency. However, researchers suggest that the abnormal fatty acid accumulation triggers inflammation in the nervous system that leads to the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency.",GHR,peroxisomal acyl-CoA oxidase deficiency +Is peroxisomal acyl-CoA oxidase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,peroxisomal acyl-CoA oxidase deficiency +What are the treatments for peroxisomal acyl-CoA oxidase deficiency ?,These resources address the diagnosis or management of peroxisomal acyl-CoA oxidase deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Pseudoneonatal adrenoleukodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,peroxisomal acyl-CoA oxidase deficiency +What is (are) familial dilated cardiomyopathy ?,"Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure. It usually takes many years for symptoms of familial dilated cardiomyopathy to appear. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.",GHR,familial dilated cardiomyopathy +How many people are affected by familial dilated cardiomyopathy ?,"It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial.",GHR,familial dilated cardiomyopathy +What are the genetic changes related to familial dilated cardiomyopathy ?,"Mutations in more than 30 genes have been found to cause familial dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes. Many of these proteins play important roles in the contraction of the cardiac muscle through their association with cell structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Many other proteins associated with familial dilated cardiomyopathy make up the structural framework (the cytoskeleton) of cardiomyocytes. The remaining proteins play various roles within cardiomyocytes to ensure their proper functioning. Mutations in one gene, TTN, account for approximately 20 percent of cases of familial dilated cardiomyopathy. The TTN gene provides instructions for making a protein called titin, which is found in the sarcomeres of many types of muscle cells, including cardiomyocytes. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutations that cause familial dilated cardiomyopathy result in the production of an abnormally short titin protein. It is unclear how the altered protein causes familial dilated cardiomyopathy, but it is likely that it impairs sarcomere function and disrupts chemical signaling. It is unclear how mutations in the other genes cause familial dilated cardiomyopathy. It is likely that the changes impair cardiomyocyte function and reduce the ability of these cells to contract, weakening and thinning cardiac muscle. People with familial dilated cardiomyopathy often do not have an identified mutation in any of the known associated genes. The cause of the condition in these individuals is unknown. Familial dilated cardiomyopathy is described as nonsyndromic or isolated because it typically affects only the heart. However, dilated cardiomyopathy can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic and are caused by mutations in other genes. Additionally, there are many nongenetic causes of dilated cardiomyopathy, including viral infection and chronic alcohol abuse.",GHR,familial dilated cardiomyopathy +Is familial dilated cardiomyopathy inherited ?,"Familial dilated cardiomyopathy has different inheritance patterns depending on the gene involved. In 80 to 90 percent of cases, familial dilated cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of familial dilated cardiomyopathy. (This situation is known as reduced penetrance.) Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In rare instances, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In other rare cases, this condition is inherited in an X-linked pattern. In these cases, the gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell increases the risk of developing heart disease, but females with such a mutation may not develop familial dilated cardiomyopathy. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes familial dilated cardiomyopathy. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,familial dilated cardiomyopathy +What are the treatments for familial dilated cardiomyopathy ?,"These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated? - Seattle Children's Hospital: Cardiomyopathy Treatment Options - The Sarcomeric Human Cardiomyopathies Registry (ShaRe) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial dilated cardiomyopathy +What is (are) McKusick-Kaufman syndrome ?,"McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism). The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.",GHR,McKusick-Kaufman syndrome +How many people are affected by McKusick-Kaufman syndrome ?,"This condition was first described in the Old Order Amish population, where it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman syndrome in non-Amish populations is unknown.",GHR,McKusick-Kaufman syndrome +What are the genetic changes related to McKusick-Kaufman syndrome ?,"Mutations in the MKKS gene cause McKusick-Kaufman syndrome. This gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The protein's structure suggests that it may act as a chaperonin, which is a type of protein that helps fold other proteins. Proteins must be folded into the correct 3-dimensional shape to perform their usual functions in the body. Although the structure of the MKKS protein is similar to that of a chaperonin, some recent studies have suggested that protein folding may not be this protein's primary function. Researchers speculate that the MKKS protein also may be involved in transporting other proteins within the cell. The mutations that underlie McKusick-Kaufman syndrome alter the structure of the MKKS protein. Although the altered protein disrupts the development of several parts of the body before birth, it is unclear how MKKS mutations lead to the specific features of this disorder.",GHR,McKusick-Kaufman syndrome +Is McKusick-Kaufman syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,McKusick-Kaufman syndrome +What are the treatments for McKusick-Kaufman syndrome ?,These resources address the diagnosis or management of McKusick-Kaufman syndrome: - Gene Review: Gene Review: McKusick-Kaufman Syndrome - Genetic Testing Registry: McKusick Kaufman syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,McKusick-Kaufman syndrome +What is (are) piebaldism ?,"Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented. People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas. In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.",GHR,piebaldism +How many people are affected by piebaldism ?,The prevalence of piebaldism is unknown.,GHR,piebaldism +What are the genetic changes related to piebaldism ?,"Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling within cells. KIT protein signaling is important for the development of certain cell types, including melanocytes. The KIT gene mutations responsible for piebaldism lead to a nonfunctional KIT protein. The loss of KIT signaling is thought to disrupt the growth and division (proliferation) and movement (migration) of melanocytes during development, resulting in patches of skin that lack pigmentation. The SNAI2 gene (often called SLUG) provides instructions for making a protein called snail 2. Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types, including melanocytes. The snail 2 protein probably plays a role in the formation and survival of melanocytes. SNAI2 gene mutations that cause piebaldism probably reduce the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment. Piebaldism is sometimes mistaken for another condition called vitiligo, which also causes unpigmented patches of skin. People are not born with vitiligo, but acquire it later in life, and it is not caused by specific genetic mutations. For unknown reasons, in people with vitiligo the immune system appears to damage the melanocytes in the skin.",GHR,piebaldism +Is piebaldism inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,piebaldism +What are the treatments for piebaldism ?,These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,piebaldism +What is (are) essential tremor ?,"Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems. Essential tremor usually occurs with movements and can occur during many different types of activities, such as eating, drinking, or writing. Essential tremor can also occur when the muscles are opposing gravity, such as when the hands are extended. It is usually not evident at rest. In addition to the hands and arms, muscles of the trunk, face, head, and neck may also exhibit tremor in this disorder; the legs and feet are less often involved. Head tremor may appear as a ""yes-yes"" or ""no-no"" movement while the affected individual is seated or standing. In some people with essential tremor, the tremor may affect the voice (vocal tremor). Essential tremor does not shorten the lifespan. However, it may interfere with fine motor skills such as using eating utensils, writing, shaving, or applying makeup, and in some cases these and other activities of daily living can be greatly impaired. Symptoms of essential tremor may be aggravated by emotional stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature extremes. Essential tremor may appear at any age but is most common in the elderly. Some studies have suggested that people with essential tremor have a higher than average risk of developing neurological conditions including Parkinson disease or sensory problems such as hearing loss, especially in individuals whose tremor appears after age 65.",GHR,essential tremor +How many people are affected by essential tremor ?,"Essential tremor is a common disorder, affecting up to 10 million people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as other factors such as certain medications, can result in similar tremors. In addition, mild cases are often not brought to medical attention, or may not be detected in clinical exams that do not include the particular circumstances in which an individual's tremor occurs. Severe cases are often misdiagnosed as Parkinson disease.",GHR,essential tremor +What are the genetic changes related to essential tremor ?,"The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing this complex condition. The specific changes in the nervous system that account for the signs and symptoms of essential tremor are unknown.",GHR,essential tremor +Is essential tremor inherited ?,"Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause essential tremor have been identified. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, some individuals have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research.",GHR,essential tremor +What are the treatments for essential tremor ?,These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,essential tremor +What is (are) pyruvate carboxylase deficiency ?,"Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth. A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.",GHR,pyruvate carboxylase deficiency +How many people are affected by pyruvate carboxylase deficiency ?,"Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada.",GHR,pyruvate carboxylase deficiency +What are the genetic changes related to pyruvate carboxylase deficiency ?,"Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.",GHR,pyruvate carboxylase deficiency +Is pyruvate carboxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pyruvate carboxylase deficiency +What are the treatments for pyruvate carboxylase deficiency ?,These resources address the diagnosis or management of pyruvate carboxylase deficiency: - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency - Genetic Testing Registry: Pyruvate carboxylase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pyruvate carboxylase deficiency +What is (are) iron-refractory iron deficiency anemia ?,"Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as ""iron-refractory"" because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.",GHR,iron-refractory iron deficiency anemia +How many people are affected by iron-refractory iron deficiency anemia ?,"Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild symptoms may never come to medical attention.",GHR,iron-refractory iron deficiency anemia +What are the genetic changes related to iron-refractory iron deficiency anemia ?,"Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen. When not enough iron is available in the bloodstream, less hemoglobin is produced, causing red blood cells to be abnormally small and pale. The abnormal cells cannot carry oxygen effectively to the body's cells and tissues, which leads to fatigue, weakness, and other symptoms of anemia.",GHR,iron-refractory iron deficiency anemia +Is iron-refractory iron deficiency anemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,iron-refractory iron deficiency anemia +What are the treatments for iron-refractory iron deficiency anemia ?,"These resources address the diagnosis or management of iron-refractory iron deficiency anemia: - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,iron-refractory iron deficiency anemia +What is (are) Greenberg dysplasia ?,"Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.",GHR,Greenberg dysplasia +How many people are affected by Greenberg dysplasia ?,Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific literature.,GHR,Greenberg dysplasia +What are the genetic changes related to Greenberg dysplasia ?,"Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals: eggs, meat, fish, and dairy products. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several steps that convert a molecule called lanosterol to cholesterol. LBR gene mutations involved in Greenberg dysplasia lead to loss of the sterol reductase function of the lamin B receptor, and research suggests that this loss causes the condition. Absence of the sterol reductase function disrupts the normal synthesis of cholesterol within cells. This absence may also allow potentially toxic byproducts of cholesterol synthesis to build up in the body's tissues. Researchers suspect that low cholesterol levels or an accumulation of other substances disrupts the growth and development of many parts of the body. It is not known, however, how a disturbance of cholesterol synthesis leads to the specific features of Greenberg dysplasia.",GHR,Greenberg dysplasia +Is Greenberg dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Greenberg dysplasia +What are the treatments for Greenberg dysplasia ?,These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal Dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Greenberg dysplasia +What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?,"Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. Problems related to LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency +How many people are affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?,"The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower.",GHR,long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency +What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?,"Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the HADHA gene that cause LCHAD deficiency disrupt one of the functions of this enzyme complex. These mutations prevent the normal processing of long-chain fatty acids from food and body fat. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, muscles, and retina. This abnormal buildup causes the other signs and symptoms of LCHAD deficiency.",GHR,long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency +Is long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency +What are the treatments for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency +What is (are) autosomal dominant congenital stationary night blindness ?,"Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder. The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.",GHR,autosomal dominant congenital stationary night blindness +How many people are affected by autosomal dominant congenital stationary night blindness ?,"Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.",GHR,autosomal dominant congenital stationary night blindness +What are the genetic changes related to autosomal dominant congenital stationary night blindness ?,"Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit visual signals from the eye to the brain when light is dim. The RHO gene provides instructions for making a protein called rhodopsin, which is turned on (activated) by light entering the eye. Rhodopsin then attaches (binds) to and activates the protein produced from the GNAT1 gene, alpha ()-transducin. The -transducin protein then triggers the activation of a protein called cGMP-PDE, which is made up of multiple parts (subunits) including a subunit produced from the PDE6B gene. Activated cGMP-PDE triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision. Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.",GHR,autosomal dominant congenital stationary night blindness +Is autosomal dominant congenital stationary night blindness inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,autosomal dominant congenital stationary night blindness +What are the treatments for autosomal dominant congenital stationary night blindness ?,These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal dominant congenital stationary night blindness +"What is (are) X-linked intellectual disability, Siderius type ?","X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip. Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.",GHR,"X-linked intellectual disability, Siderius type" +"How many people are affected by X-linked intellectual disability, Siderius type ?","While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature.",GHR,"X-linked intellectual disability, Siderius type" +"What are the genetic changes related to X-linked intellectual disability, Siderius type ?","X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Binding with the PHF8 protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed. Most PHF8 gene mutations lead to an abnormally short protein that gets transported out of the cell's nucleus. Outside of the nucleus, the PHF8 protein cannot interact with chromatin to regulate gene expression. While the exact disease mechanism is unknown, it is likely that a lack of PHF8 protein in the nucleus of brain cells before birth prevents chromatin remodeling, altering the normal expression of genes involved in intellectual function and formation of structures along the midline of the skull. This altered gene expression leads to intellectual disability, cleft lip and palate, and the other features of X-linked intellectual disability, Siderius type.",GHR,"X-linked intellectual disability, Siderius type" +"Is X-linked intellectual disability, Siderius type inherited ?","This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,"X-linked intellectual disability, Siderius type" +"What are the treatments for X-linked intellectual disability, Siderius type ?","These resources address the diagnosis or management of X-linked intellectual disability, Siderius type: - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding - Cleveland Clinic: Cleft Lip & Palate Surgery - Genetic Testing Registry: Siderius X-linked mental retardation syndrome - Nemours Children's Health System: Cleft Lip and Palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"X-linked intellectual disability, Siderius type" +What is (are) fatty acid hydroxylase-associated neurodegeneration ?,"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable signs of FAHN. Affected individuals gradually develop extreme muscle stiffness (spasticity) and exaggerated reflexes. They typically have involuntary muscle cramping (dystonia), problems with coordination and balance (ataxia), or both. The movement problems worsen over time, and some people with this condition eventually require wheelchair assistance. People with FAHN often develop vision problems, which occur due to deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and difficulties with the muscles that control eye movement. Affected individuals may have a loss of sharp vision (reduced visual acuity), decreased field of vision, impaired color perception, eyes that do not look in the same direction (strabismus), rapid involuntary eye movements (nystagmus), or difficulty moving the eyes intentionally (supranuclear gaze palsy). Speech impairment (dysarthria) also occurs in FAHN, and severely affected individuals may lose the ability to speak. People with this disorder may also have difficulty chewing or swallowing (dysphagia). In severe cases, they may develop malnutrition and require a feeding tube. The swallowing difficulties can lead to a bacterial lung infection called aspiration pneumonia, which can be life-threatening. As the disorder progresses, some affected individuals experience seizures and a decline in intellectual function. Magnetic resonance imaging (MRI) of the brain in people with FAHN shows signs of iron accumulation, especially in an area of the brain called the globus pallidus, which is involved in regulating movement. Similar patterns of iron accumulation are seen in certain other neurological disorders such as infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration. All these conditions belong to a class of disorders called neurodegeneration with brain iron accumulation (NBIA).",GHR,fatty acid hydroxylase-associated neurodegeneration +How many people are affected by fatty acid hydroxylase-associated neurodegeneration ?,FAHN is a rare disorder; only a few dozen cases have been reported.,GHR,fatty acid hydroxylase-associated neurodegeneration +What are the genetic changes related to fatty acid hydroxylase-associated neurodegeneration ?,"Mutations in the FA2H gene cause FAHN. The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid to create a 2-hydroxylated fatty acid. Certain 2-hydroxylated fatty acids are important in forming normal myelin; myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. The FA2H gene mutations that cause FAHN reduce or eliminate the function of the fatty acid 2-hydroxylase enzyme. Reduction of this enzyme's function may result in abnormal myelin that is prone to deterioration (demyelination), leading to a loss of white matter (leukodystrophy). Leukodystrophy is likely involved in the development of the movement problems and other neurological abnormalities that occur in FAHN. Iron accumulation in the brain is probably also involved, although it is unclear how FA2H gene mutations lead to the buildup of iron. People with FA2H gene mutations and some of the movement problems seen in FAHN were once classified as having a separate disorder called spastic paraplegia 35. People with mutations in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H-related leukodystrophy. However, these conditions are now generally considered to be forms of FAHN.",GHR,fatty acid hydroxylase-associated neurodegeneration +Is fatty acid hydroxylase-associated neurodegeneration inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,fatty acid hydroxylase-associated neurodegeneration +What are the treatments for fatty acid hydroxylase-associated neurodegeneration ?,These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fatty acid hydroxylase-associated neurodegeneration +What is (are) hystrix-like ichthyosis with deafness ?,"Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.",GHR,hystrix-like ichthyosis with deafness +How many people are affected by hystrix-like ichthyosis with deafness ?,HID is a rare disorder. Its prevalence is unknown.,GHR,hystrix-like ichthyosis with deafness +What are the genetic changes related to hystrix-like ichthyosis with deafness ?,"HID is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth and maturation of the outermost layer of skin (the epidermis). At least one GJB2 gene mutation has been identified in people with HID. This mutation changes a single protein building block (amino acid) in connexin 26. The mutation is thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the signs and symptoms of HID. Because the GJB2 gene mutation identified in people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not.",GHR,hystrix-like ichthyosis with deafness +Is hystrix-like ichthyosis with deafness inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,hystrix-like ichthyosis with deafness +What are the treatments for hystrix-like ichthyosis with deafness ?,These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hystrix-like ichthyosis with deafness +What is (are) white sponge nevus ?,"White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.",GHR,white sponge nevus +How many people are affected by white sponge nevus ?,"The exact prevalence of white sponge nevus is unknown, but it is estimated to affect less than 1 in 200,000 individuals worldwide.",GHR,white sponge nevus +What are the genetic changes related to white sponge nevus ?,"Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses. Mutations in the KRT4 or KRT13 gene disrupt the structure of the keratin protein. As a result, keratin 4 and keratin 13 are mismatched and do not fit together properly, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus.",GHR,white sponge nevus +Is white sponge nevus inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. However, some people who have a mutation that causes white sponge nevus do not develop these abnormal growths; this phenomenon is called reduced penetrance.",GHR,white sponge nevus +What are the treatments for white sponge nevus ?,These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,white sponge nevus +What is (are) nonbullous congenital ichthyosiform erythroderma ?,"Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.",GHR,nonbullous congenital ichthyosiform erythroderma +How many people are affected by nonbullous congenital ichthyosiform erythroderma ?,"NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected.",GHR,nonbullous congenital ichthyosiform erythroderma +What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ?,"Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate body temperature, and fight infections. Mutations in the ALOX12B and ALOXE3 genes are responsible for the majority of cases of NBCIE. Mutations in one other gene associated with this condition are found in only a small percentage of cases. In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE.",GHR,nonbullous congenital ichthyosiform erythroderma +Is nonbullous congenital ichthyosiform erythroderma inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,nonbullous congenital ichthyosiform erythroderma +What are the treatments for nonbullous congenital ichthyosiform erythroderma ?,These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nonbullous congenital ichthyosiform erythroderma +What is (are) 2q37 deletion syndrome ?,"2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, gastrointestinal system, kidneys, or genitalia.",GHR,2q37 deletion syndrome +How many people are affected by 2q37 deletion syndrome ?,"2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.",GHR,2q37 deletion syndrome +What are the genetic changes related to 2q37 deletion syndrome ?,2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.,GHR,2q37 deletion syndrome +Is 2q37 deletion syndrome inherited ?,"Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.",GHR,2q37 deletion syndrome +What are the treatments for 2q37 deletion syndrome ?,These resources address the diagnosis or management of 2q37 deletion syndrome: - Gene Review: Gene Review: 2q37 Microdeletion Syndrome - Genetic Testing Registry: Brachydactyly-Mental Retardation syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,2q37 deletion syndrome +What is (are) SYNGAP1-related intellectual disability ?,"SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have an autism spectrum disorder.",GHR,SYNGAP1-related intellectual disability +How many people are affected by SYNGAP1-related intellectual disability ?,SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases.,GHR,SYNGAP1-related intellectual disability +What are the genetic changes related to SYNGAP1-related intellectual disability ?,"SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. Mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability.",GHR,SYNGAP1-related intellectual disability +Is SYNGAP1-related intellectual disability inherited ?,"SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one case, an affected person inherited the mutation from one affected parent.",GHR,SYNGAP1-related intellectual disability +What are the treatments for SYNGAP1-related intellectual disability ?,"These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,SYNGAP1-related intellectual disability +What is (are) X-linked dystonia-parkinsonism ?,"X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.",GHR,X-linked dystonia-parkinsonism +How many people are affected by X-linked dystonia-parkinsonism ?,"X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 people on the island of Panay.",GHR,X-linked dystonia-parkinsonism +What are the genetic changes related to X-linked dystonia-parkinsonism ?,"Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain. Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. Scientists are uncertain how these changes are related to the movement abnormalities characteristic of this disease. However, they suspect that the changes disrupt the regulation of critical genes in neurons. This defect leads to the eventual death of these cells, particularly in areas of the brain called the caudate nucleus and putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism.",GHR,X-linked dystonia-parkinsonism +Is X-linked dystonia-parkinsonism inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation typically must occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, females with one altered copy of the gene in each cell are called carriers. They can pass on the gene to their children, but they usually do not experience signs and symptoms of the disorder. However, a few females carrying one altered copy of the TAF1 gene have developed movement abnormalities associated with X-linked dystonia-parkinsonism. These movement problems tend to be milder than those seen in affected men, and they are usually not progressive or disabling.",GHR,X-linked dystonia-parkinsonism +What are the treatments for X-linked dystonia-parkinsonism ?,"These resources address the diagnosis or management of X-linked dystonia-parkinsonism: - Gene Review: Gene Review: X-Linked Dystonia-Parkinsonism Syndrome - Genetic Testing Registry: Dystonia 3, torsion, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked dystonia-parkinsonism +What is (are) Frasier syndrome ?,"Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.",GHR,Frasier syndrome +How many people are affected by Frasier syndrome ?,Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature.,GHR,Frasier syndrome +What are the genetic changes related to Frasier syndrome ?,"Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Frasier syndrome lead to the production of a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs, resulting in the signs and symptoms of Frasier syndrome. Frasier syndrome has features similar to another condition called Denys-Drash syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions.",GHR,Frasier syndrome +Is Frasier syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Frasier syndrome +What are the treatments for Frasier syndrome ?,These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Frasier syndrome +What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ?,"3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition. The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,3-methylcrotonyl-CoA carboxylase deficiency +How many people are affected by 3-methylcrotonyl-CoA carboxylase deficiency ?,"This condition is detected in an estimated 1 in 36,000 newborns worldwide.",GHR,3-methylcrotonyl-CoA carboxylase deficiency +What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ?,"Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins. Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency.",GHR,3-methylcrotonyl-CoA carboxylase deficiency +Is 3-methylcrotonyl-CoA carboxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-methylcrotonyl-CoA carboxylase deficiency +What are the treatments for 3-methylcrotonyl-CoA carboxylase deficiency ?,These resources address the diagnosis or management of 3-MCC deficiency: - Baby's First Test - Genetic Testing Registry: 3 Methylcrotonyl-CoA carboxylase 1 deficiency - Genetic Testing Registry: 3-methylcrotonyl CoA carboxylase 2 deficiency - Genetic Testing Registry: Methylcrotonyl-CoA carboxylase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-methylcrotonyl-CoA carboxylase deficiency +What is (are) Hashimoto thyroiditis ?,"Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones. One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear. Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with this condition may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones. Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.",GHR,Hashimoto thyroiditis +How many people are affected by Hashimoto thyroiditis ?,"Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States.",GHR,Hashimoto thyroiditis +What are the genetic changes related to Hashimoto thyroiditis ?,"Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Hashimoto thyroiditis, white blood cells called lymphocytes accumulate abnormally in the thyroid, which can damage it. The lymphocytes make immune system proteins called antibodies that attack and destroy thyroid cells. When too many thyroid cells become damaged or die, the thyroid can no longer make enough hormones to regulate body functions. This shortage of thyroid hormones underlies the signs and symptoms of Hashimoto thyroiditis. However, some people with thyroid antibodies never develop hypothyroidism or experience any related signs or symptoms. People with Hashimoto thyroiditis have an increased risk of developing other autoimmune disorders, including vitiligo, rheumatoid arthritis, Addison disease, type 1 diabetes, multiple sclerosis, and pernicious anemia. Variations in several genes have been studied as possible risk factors for Hashimoto thyroiditis. Some of these genes are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Hashimoto thyroiditis help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition. Other, nongenetic factors also play a role in Hashimoto thyroiditis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).",GHR,Hashimoto thyroiditis +Is Hashimoto thyroiditis inherited ?,"The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition.",GHR,Hashimoto thyroiditis +What are the treatments for Hashimoto thyroiditis ?,These resources address the diagnosis or management of Hashimoto thyroiditis: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Hashimoto thyroiditis - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Hashimoto thyroiditis +What is (are) cutis laxa ?,"Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term ""cutis laxa"" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant form. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.",GHR,cutis laxa +How many people are affected by cutis laxa ?,Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported.,GHR,cutis laxa +What are the genetic changes related to cutis laxa ?,"Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin to stretch, the lungs to expand and contract, and arteries to handle blood flowing through them at high pressure. The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. Other proteins that appear to have critical roles in the assembly of elastic fibers are produced from the EFEMP2, FBLN5, and ATP6V0A2 genes. Mutations in any of these genes disrupt the formation, assembly, or function of elastic fibers. A shortage of these fibers weakens connective tissue in the skin, arteries, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa. Occipital horn syndrome is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is important for regulating copper levels in the body. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. A reduced supply of copper can decrease the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes. Mutations in the genes described above account for only a small percentage of all cases of cutis laxa. Researchers suspect that mutations in other genes, which have not been identified, can also be responsible for the condition. Rare cases of cutis laxa are acquired, which means they are probably not caused by inherited gene mutations. Acquired cutis laxa appears later in life and is related to the destruction of normal elastic fibers. The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs).",GHR,cutis laxa +Is cutis laxa inherited ?,"Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance. Researchers have described at least two forms of autosomal recessive cutis laxa. Type I results from mutations in the EFEMP2 or FBLN5 gene, while type II is caused by mutations in the ATP6V02 gene. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Occipital horn syndrome has an X-linked recessive pattern of inheritance. It results from mutations in the ATP7A gene, which is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,cutis laxa +What are the treatments for cutis laxa ?,"These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testing Registry: Autosomal recessive cutis laxa type IA - Genetic Testing Registry: Cutis laxa with osteodystrophy - Genetic Testing Registry: Cutis laxa, X-linked - Genetic Testing Registry: Cutis laxa, autosomal dominant - MedlinePlus Encyclopedia: Colon Diverticula (image) - MedlinePlus Encyclopedia: Emphysema (image) - MedlinePlus Encyclopedia: Hernia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cutis laxa +What is (are) oculocutaneous albinism ?,"Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Several additional types of this disorder have been proposed, each affecting one or a few families.",GHR,oculocutaneous albinism +How many people are affected by oculocutaneous albinism ?,"Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. The condition affects people in many ethnic groups and geographical regions. Types 1 and 2 are the most common forms of this condition; types 3 and 4 are less common. Type 2 occurs more frequently in African Americans, some Native American groups, and people from sub-Saharan Africa. Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. Studies suggest that type 4 occurs more frequently in the Japanese and Korean populations than in people from other parts of the world.",GHR,oculocutaneous albinism +What are the genetic changes related to oculocutaneous albinism ?,"Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4. Mutations in additional genes likely underlie the other forms of this disorder. The genes associated with oculocutaneous albinism are involved in producing a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. In the retina, melanin also plays a role in normal vision. Mutations in any of these genes disrupt the ability of cells to make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. This gene helps regulate melanin production and is responsible for some normal variation in pigmentation. People with genetic changes in both the OCA2 and MC1R genes have many of the usual features of oculocutaneous albinism type 2, including light-colored eyes and vision problems; however, they typically have red hair instead of the usual yellow, blond, or light brown hair seen with this condition. Some individuals with oculocutaneous albinism do not have mutations in any of the known genes. In these people, the genetic cause of the condition is unknown.",GHR,oculocutaneous albinism +Is oculocutaneous albinism inherited ?,"Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.",GHR,oculocutaneous albinism +What are the treatments for oculocutaneous albinism ?,These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type 4 - Genetic Testing Registry: Oculocutaneous albinism - MedlinePlus Encyclopedia: Albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,oculocutaneous albinism +What is (are) Saethre-Chotzen syndrome ?,"Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild abnormalities of the hands and feet, such as fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects. Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a mild variant of Saethre-Chotzen syndrome.",GHR,Saethre-Chotzen syndrome +How many people are affected by Saethre-Chotzen syndrome ?,"Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to 50,000 people.",GHR,Saethre-Chotzen syndrome +What are the genetic changes related to Saethre-Chotzen syndrome ?,"Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The TWIST1 protein is active in cells that give rise to bones, muscles, and other tissues in the head and face. It is also involved in the development of the limbs. Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. A shortage of the TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen syndrome, including the premature fusion of certain skull bones. A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. These features are typically not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features.",GHR,Saethre-Chotzen syndrome +Is Saethre-Chotzen syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Some people with a TWIST1 mutation do not have any of the obvious features of Saethre-Chotzen syndrome. These people are still at risk of passing on the gene mutation and may have a child with craniosynostosis and the other typical signs and symptoms of the condition.",GHR,Saethre-Chotzen syndrome +What are the treatments for Saethre-Chotzen syndrome ?,These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Saethre-Chotzen syndrome +What is (are) VLDLR-associated cerebellar hypoplasia ?,"VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion). Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy.",GHR,VLDLR-associated cerebellar hypoplasia +How many people are affected by VLDLR-associated cerebellar hypoplasia ?,VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. The condition was first described in the Hutterite population in Canada and the United States. This condition has also been reported in families from Iran and Turkey.,GHR,VLDLR-associated cerebellar hypoplasia +What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ?,"As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition.",GHR,VLDLR-associated cerebellar hypoplasia +Is VLDLR-associated cerebellar hypoplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,VLDLR-associated cerebellar hypoplasia +What are the treatments for VLDLR-associated cerebellar hypoplasia ?,These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequilibrium syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,VLDLR-associated cerebellar hypoplasia +What is (are) cholesteryl ester storage disease ?,"Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke. The symptoms of cholesteryl ester storage disease are highly variable. Some people have such mild symptoms that they go undiagnosed until late adulthood, while others can have liver dysfunction in early childhood. The expected lifespan of those with cholesteryl ester storage disease depends on the severity of the associated complications.",GHR,cholesteryl ester storage disease +How many people are affected by cholesteryl ester storage disease ?,Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide.,GHR,cholesteryl ester storage disease +What are the genetic changes related to cholesteryl ester storage disease ?,"Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides. In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as ""good cholesterol."" High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid. Then the cholesterol can be transported by HDL to the liver for removal. Mutations in the LIPA gene lead to a shortage of lysosomal acid lipase and prevent the body from using lipids properly. Without the activity of lysosomal acid lipase, the cholesteryl esters stay in the blood and tissues and are not able to be transported to the liver for excretion. The resulting buildup of triglycerides, cholesteryl esters, and other fats within the cells and tissues cause the signs and symptoms of cholesteryl ester storage disease.",GHR,cholesteryl ester storage disease +Is cholesteryl ester storage disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cholesteryl ester storage disease +What are the treatments for cholesteryl ester storage disease ?,These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cholesteryl ester storage disease +What is (are) nail-patella syndrome ?,"Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.",GHR,nail-patella syndrome +How many people are affected by nail-patella syndrome ?,"The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.",GHR,nail-patella syndrome +What are the genetic changes related to nail-patella syndrome ?,"Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene lead to the production of an abnormally short, nonfunctional protein or affect the protein's ability to bind to DNA. It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome.",GHR,nail-patella syndrome +Is nail-patella syndrome inherited ?,"Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases occur in people with no history of the disorder in their family.",GHR,nail-patella syndrome +What are the treatments for nail-patella syndrome ?,These resources address the diagnosis or management of nail-patella syndrome: - Gene Review: Gene Review: Nail-Patella Syndrome - Genetic Testing Registry: Nail-patella syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nail-patella syndrome +What is (are) primary macronodular adrenal hyperplasia ?,"Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels. PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.",GHR,primary macronodular adrenal hyperplasia +How many people are affected by primary macronodular adrenal hyperplasia ?,"PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing syndrome is about 1 in 26,000 people.",GHR,primary macronodular adrenal hyperplasia +What are the genetic changes related to primary macronodular adrenal hyperplasia ?,"In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH. PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH. Mutations in other genes, some of which are unknown, can also cause PMAH.",GHR,primary macronodular adrenal hyperplasia +Is primary macronodular adrenal hyperplasia inherited ?,"People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance. When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands.",GHR,primary macronodular adrenal hyperplasia +What are the treatments for primary macronodular adrenal hyperplasia ?,These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for Adrenal Gland Disorders? - Genetic Testing Registry: Acth-independent macronodular adrenal hyperplasia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,primary macronodular adrenal hyperplasia +What is (are) GM3 synthase deficiency ?,"GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. GM3 synthase deficiency profoundly disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching for objects, speaking, sitting without support, or walking. Some have involuntary twisting or jerking movements of the arms that are described as choreoathetoid. Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. It is unknown how long people with GM3 synthase deficiency usually survive. Some affected individuals have changes in skin coloring (pigmentation), including dark freckle-like spots on the arms and legs and light patches on the arms, legs, and face. These changes appear in childhood and may become more or less apparent over time. The skin changes do not cause any symptoms, but they can help doctors diagnose GM3 synthase deficiency in children who also have seizures and delayed development.",GHR,GM3 synthase deficiency +How many people are affected by GM3 synthase deficiency ?,"GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities.",GHR,GM3 synthase deficiency +What are the genetic changes related to GM3 synthase deficiency ?,"Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. These molecules are present in cells and tissues throughout the body, and they are particularly abundant in the nervous system. Although their exact functions are unclear, gangliosides appear to be important for normal brain development and function. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. It is unclear how a loss of this enzyme leads to the signs and symptoms of GM3 synthase deficiency. Researchers are working to determine whether it is the lack of gangliosides or a buildup of compounds used to make gangliosides, or both, that underlies the seizures and other problems with brain development that occur in this condition. The connection between a shortage of GM3 synthase and changes in skin pigmentation is also unknown.",GHR,GM3 synthase deficiency +Is GM3 synthase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,GM3 synthase deficiency +What are the treatments for GM3 synthase deficiency ?,"These resources address the diagnosis or management of GM3 synthase deficiency: - American Epilepsy Society: Find a Doctor - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Amish infantile epilepsy syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,GM3 synthase deficiency +What is (are) combined pituitary hormone deficiency ?,"Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection. Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.",GHR,combined pituitary hormone deficiency +How many people are affected by combined pituitary hormone deficiency ?,"The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide.",GHR,combined pituitary hormone deficiency +What are the genetic changes related to combined pituitary hormone deficiency ?,"Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected individuals. The genes associated with combined pituitary hormone deficiency provide instructions for making proteins called transcription factors, which help control the activity of many other genes. The proteins are involved in the development of the pituitary gland and the specialization (differentiation) of its cell types. The cells of the pituitary gland are responsible for triggering the release of several hormones that direct the development of many parts of the body. Some of the transcription factors are found only in the pituitary gland, and some are also active in other parts of the body. Mutations in the genes associated with combined pituitary hormone deficiency can result in abnormal differentiation of pituitary gland cells and may prevent the production of several hormones. These hormones can include growth hormone (GH), which is needed for normal growth; follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which both play a role in sexual development and the ability to have children (fertility); thyroid-stimulating hormone (TSH), which helps with thyroid gland function; prolactin, which stimulates the production of breast milk; and adrenocorticotropic hormone (ACTH), which influences energy production in the body and maintains normal blood sugar and blood pressure levels. The degree to which these hormones are deficient is variable, with prolactin and ACTH showing the most variability. In many affected individuals, ACTH deficiency does not occur until late adulthood. Most people with combined pituitary hormone deficiency do not have identified mutations in any of the genes known to be associated with this condition. The cause of the disorder in these individuals is unknown.",GHR,combined pituitary hormone deficiency +Is combined pituitary hormone deficiency inherited ?,"Most cases of combined pituitary hormone deficiency are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Most cases of familial combined pituitary hormone deficiency are inherited in an autosomal recessive pattern.",GHR,combined pituitary hormone deficiency +What are the treatments for combined pituitary hormone deficiency ?,"These resources address the diagnosis or management of combined pituitary hormone deficiency: - Gene Review: Gene Review: PROP1-Related Combined Pituitary Hormone Deficiency - Genetic Testing Registry: Pituitary hormone deficiency, combined - Genetic Testing Registry: Pituitary hormone deficiency, combined 1 - Genetic Testing Registry: Pituitary hormone deficiency, combined 2 - Genetic Testing Registry: Pituitary hormone deficiency, combined 3 - Genetic Testing Registry: Pituitary hormone deficiency, combined 4 - Genetic Testing Registry: Pituitary hormone deficiency, combined 5 - Genetic Testing Registry: Pituitary hormone deficiency, combined 6 - Great Ormond Street Hospital for Children (UK): Growth Hormone Deficiency - MedlinePlus Encyclopedia: ACTH - MedlinePlus Encyclopedia: FSH - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Prolactin - MedlinePlus Encyclopedia: TSH Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,combined pituitary hormone deficiency +What is (are) Timothy syndrome ?,"Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born with structural heart defects that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. The most common cause of death is a form of arrhythmia called ventricular tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat abnormally fast and lead to cardiac arrest. Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia). Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities, including intellectual disability and seizures, can also occur in children with Timothy syndrome. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.",GHR,Timothy syndrome +How many people are affected by Timothy syndrome ?,"Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals.",GHR,Timothy syndrome +What are the genetic changes related to Timothy syndrome ?,"Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of heart and brain cells. In cardiac muscle, these channels play a critical role in maintaining the heart's normal rhythm. Their role in the brain and in other tissues is less clear. Mutations in the CACNA1C gene change the structure of CaV1.2 channels. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome.",GHR,Timothy syndrome +Is Timothy syndrome inherited ?,"This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, people with Timothy syndrome inherit the altered gene from an unaffected parent who is mosaic for a CACNA1C mutation. Mosaicism means that the parent has the mutation in some cells (including egg or sperm cells), but not in others.",GHR,Timothy syndrome +What are the treatments for Timothy syndrome ?,These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Timothy syndrome +What is (are) African iron overload ?,"African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet. African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved. In African iron overload, excess iron typically accumulates in liver cells (hepatocytes) and certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kuppfer cells, which are specialized macrophages found in the liver. Kuppfer cells and other macrophages help protect the body against foreign invaders such as viruses and bacteria. When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver may lead to chronic liver disease (cirrhosis) in people with African iron overload. Cirrhosis increases the risk for developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis. People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron.",GHR,African iron overload +How many people are affected by African iron overload ?,"African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron. The prevalence of increased iron stores in people of African descent in other parts of the world is unknown; however, these individuals may be at higher risk of developing mildly increased iron stores than are people of European background.",GHR,African iron overload +What are the genetic changes related to African iron overload ?,"African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all individuals of African descent with iron overload drink the beer. Therefore, researchers are seeking genetic differences that affect the risk of developing this condition. Some studies have indicated that a variation in the SLC40A1 gene increases the risk of developing increased iron stores in people of African descent. This variation is found in 5 to 20 percent of people of African descent but is not generally found in other populations. The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of iron absorption in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. Ferroportin also transports iron out of reticuloendothelial cells in the liver, spleen, and bone marrow. The amount of iron absorbed by the body depends on the amount of iron stored and released from intestinal cells and macrophages. The SLC40A1 gene variation that some studies have associated with increased iron stores in people of African descent may affect the way ferroportin helps to regulate iron absorption in the body. However, researchers suggest that this variation is not associated with most cases of African iron overload.",GHR,African iron overload +Is African iron overload inherited ?,"African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.",GHR,African iron overload +What are the treatments for African iron overload ?,These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,African iron overload +What is (are) hypochondrogenesis ?,"Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.",GHR,hypochondrogenesis +How many people are affected by hypochondrogenesis ?,"Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns.",GHR,hypochondrogenesis +What are the genetic changes related to hypochondrogenesis ?,"Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.",GHR,hypochondrogenesis +Is hypochondrogenesis inherited ?,Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. This condition is not passed on to the next generation because affected individuals do not live long enough to have children.,GHR,hypochondrogenesis +What are the treatments for hypochondrogenesis ?,These resources address the diagnosis or management of hypochondrogenesis: - Genetic Testing Registry: Hypochondrogenesis - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypochondrogenesis +What is (are) Tourette syndrome ?,"Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.",GHR,Tourette syndrome +How many people are affected by Tourette syndrome ?,"Although the exact incidence of Tourette syndrome is uncertain, it is estimated to affect 1 to 10 in 1,000 children. This disorder occurs in populations and ethnic groups worldwide, and it is more common in males than in females.",GHR,Tourette syndrome +What are the genetic changes related to Tourette syndrome ?,"A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neurotransmitters) that are responsible for producing and controlling voluntary movements. Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. This gene provides instructions for making a protein that is active in the brain. The SLITRK1 protein probably plays a role in the development of nerve cells, including the growth of specialized extensions (axons and dendrites) that allow each nerve cell to communicate with nearby cells. It is unclear how mutations in the SLITRK1 gene can lead to this disorder. Most people with Tourette syndrome do not have a mutation in the SLITRK1 gene. Because mutations have been reported in so few people with this condition, the association of the SLITRK1 gene with this disorder has not been confirmed. Researchers suspect that changes in other genes, which have not been identified, are also associated with Tourette syndrome.",GHR,Tourette syndrome +Is Tourette syndrome inherited ?,"The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance, which suggests that one mutated copy of a gene in each cell would be sufficient to cause the condition. Several decades of research have shown that this is not the case. Almost all cases of Tourette syndrome probably result from a variety of genetic and environmental factors, not changes in a single gene.",GHR,Tourette syndrome +What are the treatments for Tourette syndrome ?,These resources address the diagnosis or management of Tourette syndrome: - Gene Review: Gene Review: Tourette Disorder Overview - Genetic Testing Registry: Tourette Syndrome - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Tourette syndrome +What is (are) Buschke-Ollendorff syndrome ?,"Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis. Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen. Osteopoikilosis, which is from the Greek words for ""spotted bones,"" is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.",GHR,Buschke-Ollendorff syndrome +How many people are affected by Buschke-Ollendorff syndrome ?,"Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 people worldwide.",GHR,Buschke-Ollendorff syndrome +What are the genetic changes related to Buschke-Ollendorff syndrome ?,"Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells. Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF- signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. It is unclear how it is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome.",GHR,Buschke-Ollendorff syndrome +Is Buschke-Ollendorff syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. When osteopoikilosis occurs without connective tissue nevi, the condition is often called isolated osteopoikilosis.",GHR,Buschke-Ollendorff syndrome +What are the treatments for Buschke-Ollendorff syndrome ?,These resources address the diagnosis or management of Buschke-Ollendorff syndrome: - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Buschke-Ollendorff syndrome +What is (are) paramyotonia congenita ?,"Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most peopleeven those without muscle diseasefeel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.",GHR,paramyotonia congenita +How many people are affected by paramyotonia congenita ?,"Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.",GHR,paramyotonia congenita +What are the genetic changes related to paramyotonia congenita ?,"Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot effectively regulate the flow of sodium ions into skeletal muscle cells. The resulting increase in ion flow interferes with normal muscle contraction and relaxation, leading to episodes of muscle stiffness and weakness.",GHR,paramyotonia congenita +Is paramyotonia congenita inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has one parent with the condition.",GHR,paramyotonia congenita +What are the treatments for paramyotonia congenita ?,These resources address the diagnosis or management of paramyotonia congenita: - Genetic Testing Registry: Paramyotonia congenita of von Eulenburg - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,paramyotonia congenita +What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?,"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy). Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime. Recurrent strokes can damage the brain over time. Strokes that occur in the subcortical region of the brain, which is involved in reasoning and memory, can cause progressive loss of intellectual function (dementia) and changes in mood and personality. Many people with CADASIL also develop leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as does the severity of these features. CADASIL is not associated with the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although some affected individuals might also have these health problems.",GHR,cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +How many people are affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?,"CADASIL is likely a rare condition; however, its prevalence is unknown.",GHR,cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +What are the genetic changes related to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?,"Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells. NOTCH3 gene mutations lead to the production of an abnormal Notch3 receptor protein that impairs the function and survival of vascular smooth muscle cells. Disruption of Notch3 functioning can lead to the self-destruction (apoptosis) of these cells. In the brain, the loss of vascular smooth muscle cells results in blood vessel damage that can cause the signs and symptoms of CADASIL.",GHR,cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +Is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few rare cases may result from new mutations in the NOTCH3 gene. These cases occur in people with no history of the disorder in their family.",GHR,cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +What are the treatments for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?,These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - MedlinePlus Encyclopedia: Multi-Infarct Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +What is (are) dihydropyrimidine dehydrogenase deficiency ?,"Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others. In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder becomes apparent in infancy. These affected individuals have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone (hypertonia), delayed development of motor skills such as walking, and autistic behaviors that affect communication and social interaction. Other affected individuals are asymptomatic, which means they do not have any signs or symptoms of the condition. Individuals with asymptomatic dihydropyrimidine dehydrogenase deficiency may be identified only by laboratory testing. People with dihydropyrimidine dehydrogenase deficiency, including those who otherwise exhibit no symptoms, are vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. These drugs are not broken down efficiently by people with dihydropyrimidine dehydrogenase deficiency and build up to toxic levels in the body (fluoropyrimidine toxicity). Severe inflammation and ulceration of the lining of the gastrointestinal tract (mucositis) may occur, which can lead to signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, vomiting, and diarrhea. Fluoropyrimidine toxicity may also lead to low numbers of white blood cells (neutropenia), which increases the risk of infections. It can also be associated with low numbers of platelets in the blood (thrombocytopenia), which impairs blood clotting and may lead to abnormal bleeding (hemorrhage). Redness, swelling, numbness, and peeling of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also occur.",GHR,dihydropyrimidine dehydrogenase deficiency +How many people are affected by dihydropyrimidine dehydrogenase deficiency ?,"Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset neurological symptoms, is a rare disorder. Its prevalence is unknown. However, between 2 and 8 percent of the general population may be vulnerable to toxic reactions to fluoropyrimidine drugs caused by otherwise asymptomatic dihydropyrimidine dehydrogenase deficiency.",GHR,dihydropyrimidine dehydrogenase deficiency +What are the genetic changes related to dihydropyrimidine dehydrogenase deficiency ?,"Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Mutations in the DPYD gene result in a lack (deficiency) of functional dihydropyrimidine dehydrogenase. Dihydropyrimidine dehydrogenase deficiency interferes with the breakdown of uracil and thymine, and results in excess quantities of these molecules in the blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). It is unclear how the excess uracil and thymine are related to the specific signs and symptoms of dihydropyrimidine dehydrogenase deficiency. Mutations that result in the absence (complete deficiency) of dihydropyrimidine dehydrogenase generally lead to more severe signs and symptoms than do mutations that lead to a partial deficiency of this enzyme. Because fluoropyrimidine drugs are also broken down by the dihydropyrimidine dehydrogenase enzyme, deficiency of this enzyme leads to the drug buildup that causes fluoropyrimidine toxicity.",GHR,dihydropyrimidine dehydrogenase deficiency +Is dihydropyrimidine dehydrogenase deficiency inherited ?,"Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or they may be generally asymptomatic but at risk for toxic reactions to fluoropyrimidine drugs. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene in each cell may still experience toxic reactions to fluoropyrimidine drugs.",GHR,dihydropyrimidine dehydrogenase deficiency +What are the treatments for dihydropyrimidine dehydrogenase deficiency ?,These resources address the diagnosis or management of dihydropyrimidine dehydrogenase deficiency: - Genetic Testing Registry: Dihydropyrimidine dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dihydropyrimidine dehydrogenase deficiency +What is (are) acromicric dysplasia ?,"Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities. Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal.",GHR,acromicric dysplasia +How many people are affected by acromicric dysplasia ?,Acromicric dysplasia is a rare disorder; its prevalence is unknown.,GHR,acromicric dysplasia +What are the genetic changes related to acromicric dysplasia ?,"Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, molecules of fibrillin-1 attach (bind) to each other and to other proteins to form threadlike filaments called microfibrils. The microfibrils become part of the fibers that provide strength and flexibility to connective tissues, which support the bones, skin, and other tissues and organs. Additionally, microfibrils store molecules called growth factors, including transforming growth factor beta (TGF-), and release them at various times to control the growth and repair of tissues and organs throughout the body. Most of the FBN1 gene mutations that cause acromicric dysplasia change single protein building blocks in the fibrillin-1 protein. The mutations result in a reduction and disorganization of the microfibrils. Without enough normal microfibrils to store TGF-, the growth factor is abnormally active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms are unclear.",GHR,acromicric dysplasia +Is acromicric dysplasia inherited ?,"Acromicric dysplasia is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.",GHR,acromicric dysplasia +What are the treatments for acromicric dysplasia ?,These resources address the diagnosis or management of acromicric dysplasia: - Genetic Testing Registry: Acromicric dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,acromicric dysplasia +What is (are) cranioectodermal dysplasia ?,"Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others. Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns. Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin. Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.",GHR,cranioectodermal dysplasia +How many people are affected by cranioectodermal dysplasia ?,Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature.,GHR,cranioectodermal dysplasia +What are the genetic changes related to cranioectodermal dysplasia ?,"Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out from the surface of cells. These structures are important for the development and function of many types of cells and tissues. The IFT-A complex is involved in a process called intraflagellar transport, which moves substances within cilia. This movement is essential for the assembly and maintenance of these structures. The IFT-A complex carries materials from the tip to the base of cilia. Mutations in any of the four mentioned genes reduce the amount or function of one of the IFT-A subunits. Shortage or abnormal function of a single component of the IFT-A complex impairs the function of the entire complex, disrupting the assembly and maintenance of cilia. These mutations lead to a smaller number of cilia and to abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia. About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in people without mutations in one of these genes is unknown.",GHR,cranioectodermal dysplasia +Is cranioectodermal dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cranioectodermal dysplasia +What are the treatments for cranioectodermal dysplasia ?,These resources address the diagnosis or management of cranioectodermal dysplasia: - Gene Review: Gene Review: Cranioectodermal Dysplasia - Genetic Testing Registry: Cranioectodermal dysplasia 1 - Genetic Testing Registry: Cranioectodermal dysplasia 2 - Genetic Testing Registry: Cranioectodermal dysplasia 3 - Genetic Testing Registry: Cranioectodermal dysplasia 4 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cranioectodermal dysplasia +What is (are) short-chain acyl-CoA dehydrogenase deficiency ?,"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly). The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting. The severity of this condition varies widely, even among members of the same family. Some individuals are diagnosed with SCAD deficiency based on laboratory testing but never develop any symptoms of the condition.",GHR,short-chain acyl-CoA dehydrogenase deficiency +How many people are affected by short-chain acyl-CoA dehydrogenase deficiency ?,"This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns.",GHR,short-chain acyl-CoA dehydrogenase deficiency +What are the genetic changes related to short-chain acyl-CoA dehydrogenase deficiency ?,"Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.",GHR,short-chain acyl-CoA dehydrogenase deficiency +Is short-chain acyl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,short-chain acyl-CoA dehydrogenase deficiency +What are the treatments for short-chain acyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,short-chain acyl-CoA dehydrogenase deficiency +What is (are) Klinefelter syndrome ?,"Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population. Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.",GHR,Klinefelter syndrome +How many people are affected by Klinefelter syndrome ?,"Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionally, the features of the condition vary and overlap significantly with those of other conditions.",GHR,Klinefelter syndrome +What are the genetic changes related to Klinefelter syndrome ?,"Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Most people with an extra X chromosome have the features described above, although some have few or no associated signs and symptoms. Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called variants of Klinefelter syndrome, tend to cause more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. As the number of extra sex chromosomes increases, so does the risk of these health problems. Some people with features of Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Individuals with mosaic Klinefelter syndrome may have milder signs and symptoms, depending on how many cells have an additional X chromosome.",GHR,Klinefelter syndrome +Is Klinefelter syndrome inherited ?,"Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Mosaic 46,XY/47,XXY is also not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).",GHR,Klinefelter syndrome +What are the treatments for Klinefelter syndrome ?,"These resources address the diagnosis or management of Klinefelter syndrome: - Genetic Testing Registry: Klinefelter's syndrome, XXY - MedlinePlus Encyclopedia: Klinefelter Syndrome - MedlinePlus Encyclopedia: Testicular Failure These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Klinefelter syndrome +What is (are) fumarase deficiency ?,"Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.",GHR,fumarase deficiency +How many people are affected by fumarase deficiency ?,Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.,GHR,fumarase deficiency +What are the genetic changes related to fumarase deficiency ?,"The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. Mutations in the FH gene disrupt the enzyme's ability to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency.",GHR,fumarase deficiency +Is fumarase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,fumarase deficiency +What are the treatments for fumarase deficiency ?,These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fumarase deficiency +What is (are) phosphoglycerate dehydrogenase deficiency ?,"Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare. In phosphoglycerate dehydrogenase deficiency there is a progressive loss of brain cells leading to a loss of brain tissue (brain atrophy), specifically affecting the fatty tissue known as myelin that surrounds nerve cells (hypomyelination). Frequently, the tissue that connects the two halves of the brain (corpus callosum) is small and thin, and the fluid-filled cavities (ventricles) near the center of the brain are enlarged. Because development of the brain is disrupted, the head does not grow at the same rate as the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Poor brain growth leads to an inability to achieve many developmental milestones such as sitting unsupported and speaking. Many affected infants also have difficulty feeding. The seizures in phosphoglycerate dehydrogenase deficiency can vary in type. Recurrent muscle contractions called infantile spasms are typical early in the disorder. Without early treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; or drop attacks, which are sudden episodes of weak muscle tone. Individuals with the infantile form of phosphoglycerate dehydrogenase deficiency develop many of the features described above. Individuals with the juvenile form typically have epilepsy as well as mild developmental delay and intellectual disability. Only one case of the adult form has been reported; signs and symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and pain in the arms and legs (sensory neuropathy).",GHR,phosphoglycerate dehydrogenase deficiency +How many people are affected by phosphoglycerate dehydrogenase deficiency ?,"This condition is likely a rare disorder, but its prevalence is unknown. At least 15 cases have been described in the scientific literature.",GHR,phosphoglycerate dehydrogenase deficiency +What are the genetic changes related to phosphoglycerate dehydrogenase deficiency ?,"Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency. The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production of the protein building block (amino acid) serine. Specifically, the enzyme converts a substance called 3-phosphoglycerate to 3-phosphohydroxypyruvate in the first step in serine production. Serine is necessary for the development and function of the brain and spinal cord (central nervous system). Serine is a part of chemical messengers called neurotransmitters that transmit signals in the nervous system. Proteins that form cell membranes and myelin also contain serine. Serine can be obtained from the diet, but brain cells must produce their own serine because dietary serine cannot cross the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier). PHGDH gene mutations result in the production of an enzyme with decreased function. As a result, less 3-phosphoglycerate is converted into 3-phosphohydroxypyruvate than normal and serine production is stalled at the first step. The lack of serine likely prevents the production of proteins and neurotransmitters in the brain and impairs the formation of normal cells and myelin. These disruptions in normal brain development lead to the signs and symptoms of phosphoglycerate dehydrogenase deficiency.",GHR,phosphoglycerate dehydrogenase deficiency +Is phosphoglycerate dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,phosphoglycerate dehydrogenase deficiency +What are the treatments for phosphoglycerate dehydrogenase deficiency ?,These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,phosphoglycerate dehydrogenase deficiency +What is (are) sitosterolemia ?,"Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia begin to appear early in life after foods containing plant sterols are introduced into the diet. An accumulation of fatty deposits on the artery walls (atherosclerosis) may occur by adolescence or early adulthood in people with sitosterolemia. The deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. People with sitosterolemia typically develop small yellowish growths called xanthomas beginning in childhood. The xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems. Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).",GHR,sitosterolemia +How many people are affected by sitosterolemia ?,"Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the prevalence may be at least 1 in 50,000 people.",GHR,sitosterolemia +What are the genetic changes related to sitosterolemia ?,"Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells. Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. It is found mostly in cells of the intestines and liver. After plant sterols in food are taken into intestinal cells, the sterolin transporters in these cells pump them back into the intestinal tract, decreasing absorption. Sterolin transporters in liver cells pump the plant sterols into a fluid called bile that is released into the intestine. From the intestine, the plant sterols are eliminated with the feces. This process removes most of the dietary plant sterols, and allows only about 5 percent of these substances to get into the bloodstream. Sterolin also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the diet is absorbed by the body. Mutations in the ABCG5 or ABCG8 gene that cause sitosterolemia result in a defective sterolin transporter and impair the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the arteries, skin, and other tissues, resulting in atherosclerosis, xanthomas, and the additional signs and symptoms of sitosterolemia. Excess plant sterols, such as sitosterol, in red blood cells likely make their cell membranes stiff and prone to rupture, leading to hemolytic anemia. Changes in the lipid composition of the membranes of red blood cells and platelets may account for the other blood abnormalities that sometimes occur in sitosterolemia.",GHR,sitosterolemia +Is sitosterolemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sitosterolemia +What are the treatments for sitosterolemia ?,These resources address the diagnosis or management of sitosterolemia: - Gene Review: Gene Review: Sitosterolemia - Genetic Testing Registry: Sitosterolemia - Massachusetts General Hospital: Lipid Metabolism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,sitosterolemia +What is (are) Menkes syndrome ?,"Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.",GHR,Menkes syndrome +How many people are affected by Menkes syndrome ?,"The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns.",GHR,Menkes syndrome +What are the genetic changes related to Menkes syndrome ?,"Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.",GHR,Menkes syndrome +Is Menkes syndrome inherited ?,"Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a history of the disorder in their family.",GHR,Menkes syndrome +What are the treatments for Menkes syndrome ?,These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus Encyclopedia: Menkes syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Menkes syndrome +What is (are) progressive osseous heteroplasia ?,"Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, this may not occur until later in childhood or in early adulthood.",GHR,progressive osseous heteroplasia +How many people are affected by progressive osseous heteroplasia ?,Progressive osseous heteroplasia is a rare condition. Its exact incidence is unknown.,GHR,progressive osseous heteroplasia +What are the genetic changes related to progressive osseous heteroplasia ?,"Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton. The GNAS gene mutations that cause progressive osseous heteroplasia disrupt the function of the G protein and impair its ability to regulate osteogenesis. As a result, bony tissue grows outside the skeleton and causes the complications associated with this disorder.",GHR,progressive osseous heteroplasia +Is progressive osseous heteroplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or ""turned on,"" in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. The GNAS gene has a complex genomic imprinting pattern. In some cells of the body the maternal copy of the gene is active, while in others the paternal copy is active. Progressive osseous heteroplasia occurs when mutations affect the paternal copy of the gene.",GHR,progressive osseous heteroplasia +What are the treatments for progressive osseous heteroplasia ?,These resources address the diagnosis or management of progressive osseous heteroplasia: - Genetic Testing Registry: Progressive osseous heteroplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,progressive osseous heteroplasia +What is (are) task-specific focal dystonia ?,"Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term ""focal"" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw. Researchers have described several forms of task-specific focal dystonia. The most common is writer's cramp, in which muscle cramps or spasms in the hand, wrist, or forearm interfere with holding a pen or pencil. Writer's cramp begins in the hand used for writing (the dominant hand) and is usually limited to that task, but with time it can spread to the other hand and affect other fine-motor activities such as shaving or typing. Musician's dystonia is a form of task-specific focal dystonia characterized by muscle cramps and spasms that occur while playing a musical instrument. This condition can affect amateur or professional musicians, and the location of the dystonia depends on the instrument. Some musicians (such as piano, guitar, and violin players) develop focal hand dystonia, which causes loss of fine-motor control in the hand and wrist muscles. This condition reduces finger coordination, speed, and endurance while playing. Musicians who play woodwind or brass instruments can develop what is known as embouchure dystonia. This condition causes muscle cramps or spasms involving the lips, tongue, or jaw, which prevents normal positioning of the mouth around the instrument's mouthpiece. Musician's dystonia often occurs only when playing a particular instrument. However, over time focal hand dystonia may impair other activities, and embouchure dystonia can worsen to affect eating and speech. Task-specific focal dystonia can affect people who play sports and engage in other occupations involving repetitive, highly practiced movements. For example, some golfers experience involuntary jerking of the wrists during putting, a condition known informally as ""the yips."" Cramps and spasms of the hand and arm muscles can also affect tennis players, billiards players, dart throwers, and other athletes. Additionally, task-specific dystonia has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. The abnormal movements associated with task-specific focal dystonia are usually painless, although they can cause anxiety when they interfere with musical performance and other activities. Severe cases can cause professional disability.",GHR,task-specific focal dystonia +How many people are affected by task-specific focal dystonia ?,Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians.,GHR,task-specific focal dystonia +What are the genetic changes related to task-specific focal dystonia ?,"The causes of task-specific focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the onset of symptoms in people who are at risk. It is possible that the different forms of task-specific focal dystonia have different underlying causes. Having a family history of dystonia, particularly focal dystonia, is one of the only established risk factors for task-specific focal dystonia. Studies suggest that previous injury, changes in practice routine, and exposure to anti-psychotic drugs (which can cause other types of dystonia) are not major risk factors. Nor does the condition appear to be a form of performance anxiety. Task-specific focal dystonia may be associated with dysfunction in areas of the brain that regulate movement. In particular, researchers have found that at least some cases of the condition are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Although genetic factors are almost certainly involved in task-specific focal dystonia, no genes have been clearly associated with the condition. Researchers have looked for mutations in several genes known to be involved in other forms of dystonia, but these genetic changes do not appear to be a major cause of task-specific focal dystonia. Researchers are working to determine which genetic factors are related to this disorder.",GHR,task-specific focal dystonia +Is task-specific focal dystonia inherited ?,"Most cases of task-specific focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history of focal dystonia. (For example, writer's cramp and musician's dystonia have been reported to occur in the same family.) The dystonia often appears to have an autosomal dominant pattern of inheritance, based on the observation that some affected people have a parent with the condition.",GHR,task-specific focal dystonia +What are the treatments for task-specific focal dystonia ?,These resources address the diagnosis or management of task-specific focal dystonia: - Dystonia Medical Research Foundation: How Is Dystonia Diagnosed? - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Focal dystonia - Merck Manual Home Health Handbook: Dystonias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,task-specific focal dystonia +What is (are) spinocerebellar ataxia type 6 ?,"Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.",GHR,spinocerebellar ataxia type 6 +How many people are affected by spinocerebellar ataxia type 6 ?,"The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals.",GHR,spinocerebellar ataxia type 6 +What are the genetic changes related to spinocerebellar ataxia type 6 ?,"Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. CaV2.1 channels play an essential role in communication between neurons in the brain. The CACNA1A gene mutations that cause SCA6 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 4 to 18 times within the gene. In people with SCA6, the CAG segment is repeated 20 to 33 times. People with 20 repeats tend to experience signs and symptoms of SCA6 beginning in late adulthood, while people with a larger number of repeats usually have signs and symptoms from mid-adulthood. An increase in the length of the CAG segment leads to the production of an abnormally long version of the alpha-1 subunit. This version of the subunit alters the location and function of the CaV2.1 channels. Normally the alpha-1 subunit is located within the cell membrane; the abnormal subunit is found in the cell membrane as well as in the fluid inside cells (cytoplasm), where it clusters together and forms clumps (aggregates). The effect these aggregates have on cell functioning is unknown. The lack of normal calcium channels in the cell membrane impairs cell communication between neurons in the brain. Diminished cell communication leads to cell death. Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to the accumulation of these aggregates. Over time, a loss of cells in the cerebellum causes the movement problems characteristic of SCA6.",GHR,spinocerebellar ataxia type 6 +Is spinocerebellar ataxia type 6 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered CACNA1A gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often slightly increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation.",GHR,spinocerebellar ataxia type 6 +What are the treatments for spinocerebellar ataxia type 6 ?,These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinocerebellar ataxia type 6 +What is (are) Cole disease ?,"Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life. In some cases, individuals with Cole disease develop abnormal accumulations of the mineral calcium (calcifications) in the tendons, which can cause pain during movement. Calcifications may also occur in the skin or breast tissue.",GHR,Cole disease +How many people are affected by Cole disease ?,Cole disease is a rare disease; its prevalence is unknown. Only a few affected families have been described in the medical literature.,GHR,Cole disease +What are the genetic changes related to Cole disease ?,"Cole disease is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps to prevent minerals, including calcium, from being deposited in body tissues where they do not belong. It also plays a role in controlling cell signaling in response to the hormone insulin, through interaction between a part of the ENPP1 protein called the SMB2 domain and the insulin receptor. The insulin receptor is a protein that attaches (binds) to insulin and initiates cell signaling. Insulin plays many roles in the body, including regulating blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Cell signaling in response to insulin is also important for the maintenance of the outer layer of skin (the epidermis). It helps control the transport of the pigment melanin from the cells in which it is produced (melanocytes) to epidermal cells called keratinocytes, and it is also involved in the development of keratinocytes. The mutations that cause Cole disease change the structure of the SMB2 domain, which alters its interaction with the insulin receptor and affects cell signaling. The resulting impairment of ENPP1's role in melanin transport and keratinocyte development leads to the hypopigmentation and keratoderma that occurs in Cole disease. The mutations may also impair ENPP1's control of calcification, which likely accounts for the abnormal calcium deposits that occur in some people with this disorder. For reasons that are unclear, the changes in insulin signaling resulting from these ENPP1 gene mutations do not seem to affect blood sugar control.",GHR,Cole disease +Is Cole disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Cole disease +What are the treatments for Cole disease ?,These resources address the diagnosis or management of Cole disease: - Genetic Testing Registry: Cole disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cole disease +What is (are) pulmonary arterial hypertension ?,"Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart. Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.",GHR,pulmonary arterial hypertension +How many people are affected by pulmonary arterial hypertension ?,"In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males.",GHR,pulmonary arterial hypertension +What are the genetic changes related to pulmonary arterial hypertension ?,"Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. As a result, these arteries narrow in diameter, which increases the resistance to blood flow. Blood pressure in the pulmonary artery and the right ventricle of the heart increases to overcome the increased resistance to blood flow. Mutations in several additional genes have also been found to cause pulmonary arterial hypertension, but they are much less common causes of the disorder than are BMPR2 gene mutations. Variations in other genes may increase the risk of developing pulmonary arterial hypertension or modify the course of the disease (usually making it more severe). Changes in as-yet-unidentified genes may also be associated with this condition. Although pulmonary arterial hypertension often occurs on its own, it can also be part of syndromes that affect many parts of the body. For example, this condition is occasionally found in people with systemic scleroderma, systemic lupus erythematosus, critical congenital heart disease, or Down syndrome. Researchers have also identified nongenetic factors that increase the risk of developing pulmonary arterial hypertension. These include certain drugs used as appetite suppressants and several illegal drugs, such as cocaine and methamphetamine. Pulmonary arterial hypertension is also a rare complication of certain infectious diseases, including HIV and schistosomiasis.",GHR,pulmonary arterial hypertension +Is pulmonary arterial hypertension inherited ?,"Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated with the disease, but most of the time a causative gene mutation has not been identified. Inherited cases of this disorder are known as familial pulmonary arterial hypertension. When the condition is inherited, it most often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, many people with an altered gene never develop pulmonary arterial hypertension; this phenomenon is called reduced penetrance.",GHR,pulmonary arterial hypertension +What are the treatments for pulmonary arterial hypertension ?,These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary pulmonary hypertension 2 - Genetic Testing Registry: Primary pulmonary hypertension 3 - Genetic Testing Registry: Primary pulmonary hypertension 4 - MedlinePlus Encyclopedia: Pulmonary hypertension These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pulmonary arterial hypertension +"What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ?","Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.",GHR,"platyspondylic lethal skeletal dysplasia, Torrance type" +"How many people are affected by platyspondylic lethal skeletal dysplasia, Torrance type ?",This condition is very rare; only a few affected individuals have been reported worldwide.,GHR,"platyspondylic lethal skeletal dysplasia, Torrance type" +"What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ?","Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. All of the COL2A1 mutations that have been found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type.",GHR,"platyspondylic lethal skeletal dysplasia, Torrance type" +"Is platyspondylic lethal skeletal dysplasia, Torrance type inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,"platyspondylic lethal skeletal dysplasia, Torrance type" +"What are the treatments for platyspondylic lethal skeletal dysplasia, Torrance type ?","These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type: - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"platyspondylic lethal skeletal dysplasia, Torrance type" +What is (are) PDGFRB-associated chronic eosinophilic leukemia ?,"PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.",GHR,PDGFRB-associated chronic eosinophilic leukemia +How many people are affected by PDGFRB-associated chronic eosinophilic leukemia ?,"The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is unknown. For unknown reasons, males are up to nine times more likely than females to develop PDGFRB-associated chronic eosinophilic leukemia.",GHR,PDGFRB-associated chronic eosinophilic leukemia +What are the genetic changes related to PDGFRB-associated chronic eosinophilic leukemia ?,"PDGFRB-associated chronic eosinophilic leukemia is caused by genetic rearrangements that join part of the PDGFRB gene with part of another gene. At least 20 genes have been found that fuse with the PDGFRB gene to cause PDGFRB-associated chronic eosinophilic leukemia. The most common genetic abnormality in this condition results from a rearrangement (translocation) of genetic material that brings part of the PDGFRB gene on chromosome 5 together with part of the ETV6 gene on chromosome 12, creating the ETV6-PDGFRB fusion gene. The PDGFRB gene provides instructions for making a protein that plays a role in turning on (activating) signaling pathways that control many cell processes, including cell growth and division (proliferation). The ETV6 gene provides instructions for making a protein that turns off (represses) gene activity. This protein is important in development before birth and in regulating blood cell formation. The protein produced from the ETV6-PDGFRB fusion gene, called ETV6/PDGFR, functions differently than the proteins normally produced from the individual genes. Like the normal PDGFR protein, the ETV6/PDGFR fusion protein turns on signaling pathways. However, the fusion protein does not need to be turned on to be active, so the signaling pathways are constantly turned on (constitutively activated). The fusion protein is unable to repress gene activity regulated by the normal ETV6 protein, so gene activity is increased. The constitutively active signaling pathways and abnormal gene activity increase the proliferation and survival of cells. When the ETV6-PDGFRB fusion gene mutation occurs in cells that develop into blood cells, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRB-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.",GHR,PDGFRB-associated chronic eosinophilic leukemia +Is PDGFRB-associated chronic eosinophilic leukemia inherited ?,"PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population).",GHR,PDGFRB-associated chronic eosinophilic leukemia +What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ?,"These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care Alliance: Hypereosinophilia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,PDGFRB-associated chronic eosinophilic leukemia +What is (are) Usher syndrome ?,"Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however. Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity and the age when signs and symptoms appear. Type I is further divided into seven distinct subtypes, designated as types IA through IG. Usher syndrome type II has at least three described subtypes, designated as types IIA, IIB, and IIC. Individuals with Usher syndrome type I are typically born completely deaf or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual. Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems. People with Usher syndrome type III experience progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. People with Usher syndrome type III may also experience difficulties with balance due to inner ear problems. These problems vary among affected individuals, however.",GHR,Usher syndrome +How many people are affected by Usher syndrome ?,"Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and eastern European) Jewish ancestry and the Acadian population in Louisiana. Type II is thought to be the most common form of Usher syndrome, although the frequency of this type is unknown. Type III Usher syndrome accounts for only a small percentage of all Usher syndrome cases in most populations. This form of the condition is more common in the Finnish population, however, where it accounts for about 40 percent of all cases.",GHR,Usher syndrome +What are the genetic changes related to Usher syndrome ?,"Mutations in the ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes can cause Usher syndrome. The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, which are sensory cells in the inner ear that help transmit sound and motion signals to the brain. In the retina, these genes are also involved in determining the structure and function of light-sensing cells called rods and cones. In some cases, the exact role of these genes in hearing and vision is unknown. Most of the mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes hearing loss, balance problems, and vision loss characteristic of this condition. Usher syndrome type I can result from mutations in the CDH23, MYO7A, PCDH15, USH1C, or USH1G gene. At least two other unidentified genes also cause this form of Usher syndrome. Usher syndrome type II is caused by mutations in at least four genes. Only two of these genes, ADGRV1 and USH2A, have been identified. Mutations in at least two genes are responsible for Usher syndrome type III; however, CLRN1 is the only gene that has been identified.",GHR,Usher syndrome +Is Usher syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Usher syndrome +What are the treatments for Usher syndrome ?,"These resources address the diagnosis or management of Usher syndrome: - Gene Review: Gene Review: Usher Syndrome Type I - Gene Review: Gene Review: Usher Syndrome Type II - Genetic Testing Registry: Usher syndrome type 2 - Genetic Testing Registry: Usher syndrome, type 1 - Genetic Testing Registry: Usher syndrome, type 3A - MedlinePlus Encyclopedia: Retinitis Pigmentosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Usher syndrome +What is (are) mal de Meleda ?,"Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).",GHR,mal de Meleda +How many people are affected by mal de Meleda ?,Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide.,GHR,mal de Meleda +What are the genetic changes related to mal de Meleda ?,"Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in the skin. Through interaction with these receptors, the SLURP-1 protein is thought to be involved in controlling the growth and division (proliferation), maturation (differentiation), and survival of skin cells. Mutations in the SLURP1 gene lead to little or no SLURP-1 protein in the body. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.",GHR,mal de Meleda +Is mal de Meleda inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mal de Meleda +What are the treatments for mal de Meleda ?,These resources address the diagnosis or management of mal de Meleda: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Acroerythrokeratoderma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mal de Meleda +What is (are) Salih myopathy ?,"Salih myopathy is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with Salih myopathy may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood. A form of heart disease called dilated cardiomyopathy is another feature of Salih myopathy. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with Salih myopathy usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.",GHR,Salih myopathy +How many people are affected by Salih myopathy ?,"Salih myopathy appears to be a rare disorder, although its prevalence is unknown. It has been reported in a small number of families of Moroccan and Sudanese descent.",GHR,Salih myopathy +What are the genetic changes related to Salih myopathy ?,"Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy.",GHR,Salih myopathy +Is Salih myopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Salih myopathy +What are the treatments for Salih myopathy ?,"These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Salih myopathy +What is (are) hereditary antithrombin deficiency ?,"Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. These clots usually develop after adolescence. Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. These factors include increasing age, surgery, or immobility. The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. They also may have an increased risk for pregnancy loss (miscarriage) or stillbirth.",GHR,hereditary antithrombin deficiency +How many people are affected by hereditary antithrombin deficiency ?,"Hereditary antithrombin deficiency is estimated to occur in about 1 in 2,000 to 3,000 individuals. Of people who have experienced an abnormal blood clot, about 1 in 20 to 200 have hereditary antithrombin deficiency.",GHR,hereditary antithrombin deficiency +What are the genetic changes related to hereditary antithrombin deficiency ?,"Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots.",GHR,hereditary antithrombin deficiency +Is hereditary antithrombin deficiency inherited ?,"Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern, which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder. Inheriting two altered copies of this gene in each cell is usually incompatible with life; however, a few severely affected individuals have been reported with mutations in both copies of the SERPINC1 gene in each cell.",GHR,hereditary antithrombin deficiency +What are the treatments for hereditary antithrombin deficiency ?,These resources address the diagnosis or management of hereditary antithrombin deficiency: - Genetic Testing Registry: Antithrombin III deficiency - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Congenital Antithrombin III Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary antithrombin deficiency +What is (are) glutathione synthetase deficiency ?,"Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). In addition, affected individuals may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells. Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis). In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections.",GHR,glutathione synthetase deficiency +How many people are affected by glutathione synthetase deficiency ?,Glutathione synthetase deficiency is very rare. This disorder has been described in more than 70 people worldwide.,GHR,glutathione synthetase deficiency +What are the genetic changes related to glutathione synthetase deficiency ?,"Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule called glutathione. Glutathione protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production. Glutathione is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules. Mutations in the GSS gene prevent cells from making adequate levels of glutathione, leading to the signs and symptoms of glutathione synthetase deficiency.",GHR,glutathione synthetase deficiency +Is glutathione synthetase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glutathione synthetase deficiency +What are the treatments for glutathione synthetase deficiency ?,"These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glutathione synthetase deficiency +What is (are) palmoplantar keratoderma with deafness ?,"Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.",GHR,palmoplantar keratoderma with deafness +How many people are affected by palmoplantar keratoderma with deafness ?,Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified.,GHR,palmoplantar keratoderma with deafness +What are the genetic changes related to palmoplantar keratoderma with deafness ?,"Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause palmoplantar keratoderma with deafness change single protein building blocks (amino acids) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses. Palmoplantar keratoderma with deafness can also be caused by a mutation in the MT-TS1 gene. This gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNASer(UCN). This molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in many different proteins. The tRNASer(UCN) molecule is present only in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNASer(UCN) molecule is involved in the assembly of proteins that carry out oxidative phosphorylation. The MT-TS1 gene mutation that causes palmoplantar keratoderma with deafness leads to reduced levels of tRNASer(UCN) to assemble proteins within mitochondria. Reduced production of proteins needed for oxidative phosphorylation may impair the ability of mitochondria to make ATP. Researchers have not determined why the effects of the mutation are limited to cells in the inner ear and the skin in this condition.",GHR,palmoplantar keratoderma with deafness +Is palmoplantar keratoderma with deafness inherited ?,"Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When palmoplantar keratoderma with deafness is caused by mutations in the MT-TS1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (mtDNA). Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.",GHR,palmoplantar keratoderma with deafness +What are the treatments for palmoplantar keratoderma with deafness ?,These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,palmoplantar keratoderma with deafness +What is (are) Crohn disease ?,"Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). Inflammation can occur in any part of the digestive system, however. The inflamed tissues become thick and swollen, and the inner surface of the intestine may develop open sores (ulcers). Crohn disease most commonly appears in a person's late teens or twenties, although the disease can appear at any age. Signs and symptoms tend to flare up multiple times throughout life. The most common features of this condition are persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, and fever. Some people with Crohn disease have chronic bleeding from inflamed tissues in the intestine; over time, this bleeding can lead to a low number of red blood cells (anemia). In some cases, Crohn disease can also cause medical problems affecting the joints, eyes, or skin. Intestinal blockage is a common complication of Crohn disease. Blockages are caused by swelling or a buildup of scar tissue in the intestinal walls. Some affected individuals also develop fistulae, which are abnormal connections between the intestine and other tissues. Fistulae occur when ulcers break through the intestinal wall to form passages between loops of the intestine or between the intestine and nearby structures (such as the bladder, vagina, or skin). Crohn disease is one common form of inflammatory bowel disease (IBD). Another type of IBD, ulcerative colitis, also causes chronic inflammation of the intestinal lining. Unlike Crohn disease, which can affect any part of the digestive system, ulcerative colitis typically causes inflammation only in the colon. In addition, the two disorders involve different patterns of inflammation.",GHR,Crohn disease +How many people are affected by Crohn disease ?,"Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other ethnic backgrounds.",GHR,Crohn disease +What are the genetic changes related to Crohn disease ?,"Crohn disease is related to chromosomes 5 and 10. Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease. The IL23R gene is associated with Crohn disease. A variety of genetic and environmental factors likely play a role in causing Crohn disease. Although researchers are studying risk factors that may contribute to this complex disorder, many of these factors remain unknown. Cigarette smoking is thought to increase the risk of developing this disease, and it may also play a role in periodic flare-ups of signs and symptoms. Studies suggest that Crohn disease may result from a combination of certain genetic variations, changes in the immune system, and the presence of bacteria in the digestive tract. Recent studies have identified variations in specific genes, including ATG16L1, IL23R, IRGM, and NOD2, that influence the risk of developing Crohn disease. These genes provide instructions for making proteins that are involved in immune system function. Variations in any of these genes may disrupt the ability of cells in the intestine to respond normally to bacteria. An abnormal immune response to bacteria in the intestinal walls may lead to chronic inflammation and the digestive problems characteristic of Crohn disease. Researchers have also discovered genetic variations in certain regions of chromosome 5 and chromosome 10 that appear to contribute to Crohn disease risk. One area of chromosome 5, known as the IBD5 locus, contains several genetic changes that may increase the risk of developing this condition. Other regions of chromosome 5 and chromosome 10 identified in studies of Crohn disease risk are known as ""gene deserts"" because they include no known genes. Instead, these regions may contain stretches of DNA that regulate nearby genes. Additional research is needed to determine how genetic variations in these chromosomal regions are related to a person's chance of developing Crohn disease.",GHR,Crohn disease +Is Crohn disease inherited ?,"The inheritance pattern of Crohn disease is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a significant risk factor for the disease.",GHR,Crohn disease +What are the treatments for Crohn disease ?,These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Crohn disease +What is (are) frontometaphyseal dysplasia ?,"Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands. Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss. In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing. Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.",GHR,frontometaphyseal dysplasia +How many people are affected by frontometaphyseal dysplasia ?,Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have been reported worldwide.,GHR,frontometaphyseal dysplasia +What are the genetic changes related to frontometaphyseal dysplasia ?,"Mutations in the FLNA gene cause frontometaphyseal dysplasia. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with frontometaphyseal dysplasia. These mutations are described as ""gain-of-function"" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of frontometaphyseal dysplasia.",GHR,frontometaphyseal dysplasia +Is frontometaphyseal dysplasia inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,frontometaphyseal dysplasia +What are the treatments for frontometaphyseal dysplasia ?,These resources address the diagnosis or management of frontometaphyseal dysplasia: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Frontometaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,frontometaphyseal dysplasia +What is (are) recombinant 8 syndrome ?,"Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.",GHR,recombinant 8 syndrome +How many people are affected by recombinant 8 syndrome ?,Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outside this population have been found.,GHR,recombinant 8 syndrome +What are the genetic changes related to recombinant 8 syndrome ?,Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8.,GHR,recombinant 8 syndrome +Is recombinant 8 syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome.",GHR,recombinant 8 syndrome +What are the treatments for recombinant 8 syndrome ?,These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,recombinant 8 syndrome +What is (are) biotin-thiamine-responsive basal ganglia disease ?,"Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family. The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. Many of the neurological problems that can occur in biotin-thiamine-responsive basal ganglia disease affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia). Movement problems can also affect the face, and may include the inability to move facial muscles due to facial nerve paralysis (supranuclear facial palsy), paralysis of the eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may result in coma and become life-threatening. Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the body. Less commonly, the signs and symptoms persist at the same level or slowly increase in severity over time rather than occurring as episodes that come and go. In these individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of mental and motor skills (psychomotor delay).",GHR,biotin-thiamine-responsive basal ganglia disease +How many people are affected by biotin-thiamine-responsive basal ganglia disease ?,Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its prevalence is unknown. Approximately 48 cases have been reported in the medical literature; most of these are individuals from Arab populations.,GHR,biotin-thiamine-responsive basal ganglia disease +What are the genetic changes related to biotin-thiamine-responsive basal ganglia disease ?,"Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene. This gene provides instructions for making a protein called a thiamine transporter, which moves thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet and is necessary for proper functioning of the nervous system. Mutations in the SLC19A3 gene likely result in a protein with impaired ability to transport thiamine into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. In this disorder, abnormalities affect several parts of the brain. Using medical imaging, generalized swelling as well as specific areas of damage (lesions) in the brain can often be seen, including in the basal ganglia. The relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown. It is unclear how biotin is related to this disorder. Some researchers suggest that the excess biotin given along with thiamine as treatment for the disorder may increase the amount of thiamine transporter that is produced, partially compensating for the impaired efficiency of the abnormal protein. Others propose that biotin transporter proteins may interact with thiamine transporters in such a way that biotin levels influence the course of the disease.",GHR,biotin-thiamine-responsive basal ganglia disease +Is biotin-thiamine-responsive basal ganglia disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,biotin-thiamine-responsive basal ganglia disease +What are the treatments for biotin-thiamine-responsive basal ganglia disease ?,These resources address the diagnosis or management of biotin-thiamine-responsive basal ganglia disease: - Gene Review: Gene Review: Biotin-Thiamine-Responsive Basal Ganglia Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,biotin-thiamine-responsive basal ganglia disease +What is (are) congenital myasthenic syndrome ?,"Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk. Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).",GHR,congenital myasthenic syndrome +How many people are affected by congenital myasthenic syndrome ?,The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected individuals have been described in the scientific literature.,GHR,congenital myasthenic syndrome +What are the genetic changes related to congenital myasthenic syndrome ?,"Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement. Gene mutations lead to changes in proteins that play a role in the function of the neuromuscular junction and disrupt signaling between the ends of nerve cells and muscle cells. Disrupted signaling between these cells results in an impaired ability to move skeletal muscles, muscle weakness, and delayed development of motor skills. The respiratory problems in congenital myasthenic syndrome result from impaired movement of the muscles of the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm). Mutations in other genes that provide instructions for proteins involved in neuromuscular signaling have been found to cause some cases of congenital myasthenic syndrome, although these mutations account for only a small number of cases. Some people with congenital myasthenic syndrome do not have an identified mutation in any of the genes known to be associated with this condition.",GHR,congenital myasthenic syndrome +Is congenital myasthenic syndrome inherited ?,"This condition is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rarely, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,congenital myasthenic syndrome +What are the treatments for congenital myasthenic syndrome ?,"These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenital myasthenic syndrome 1B, fast-channel - Genetic Testing Registry: Congenital myasthenic syndrome with tubular aggregates 1 - Genetic Testing Registry: Congenital myasthenic syndrome, acetazolamide-responsive - Genetic Testing Registry: Endplate acetylcholinesterase deficiency - Genetic Testing Registry: Familial infantile myasthenia - Genetic Testing Registry: Myasthenia, limb-girdle, familial - Genetic Testing Registry: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency - Genetic Testing Registry: Myasthenic syndrome, slow-channel congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital myasthenic syndrome +What is (are) tetrahydrobiopterin deficiency ?,"Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.",GHR,tetrahydrobiopterin deficiency +How many people are affected by tetrahydrobiopterin deficiency ?,"This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 million newborns. In most parts of the world, tetrahydrobiopterin deficiency accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The remaining cases are caused by a similar condition called phenylketonuria (PKU). In certain countries, including Saudi Arabia, Taiwan, China, and Turkey, it is more common for elevated levels of phenylalanine to be caused by tetrahydrobiopterin deficiency than by PKU.",GHR,tetrahydrobiopterin deficiency +What are the genetic changes related to tetrahydrobiopterin deficiency ?,"Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine. It is also involved in the production of neurotransmitters. If one of the enzymes fails to function correctly because of a gene mutation, little or no tetrahydrobiopterin is available to help process phenylalanine. As a result, phenylalanine can build up in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Tetrahydrobiopterin deficiency can also alter the levels of certain neurotransmitters, which disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition.",GHR,tetrahydrobiopterin deficiency +Is tetrahydrobiopterin deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,tetrahydrobiopterin deficiency +What are the treatments for tetrahydrobiopterin deficiency ?,"These resources address the diagnosis or management of tetrahydrobiopterin deficiency: - Baby's First Test: Biopterin Defect in Cofactor Biosynthesis - Baby's First Test: Biopterin Defect in Cofactor Regeneration - Genetic Testing Registry: 6-pyruvoyl-tetrahydropterin synthase deficiency - Genetic Testing Registry: Dihydropteridine reductase deficiency - Genetic Testing Registry: GTP cyclohydrolase I deficiency - Genetic Testing Registry: Hyperphenylalaninemia, BH4-deficient, D - MedlinePlus Encyclopedia: Serum Phenylalanine Screening These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,tetrahydrobiopterin deficiency +What is (are) glycogen storage disease type V ?,"Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as ""second wind""). Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure. The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.",GHR,glycogen storage disease type V +How many people are affected by glycogen storage disease type V ?,"GSDV is a rare disorder; however, its prevalence is unknown. In the Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, the condition is estimated to affect 1 in 100,000 individuals.",GHR,glycogen storage disease type V +What are the genetic changes related to glycogen storage disease type V ?,"Mutations in the PYGM gene cause GSDV. The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells. PYGM gene mutations prevent myophosphorylase from breaking down glycogen effectively. As a result, muscle cells cannot produce enough energy, so muscles become easily fatigued. Reduced energy production in muscle cells leads to the major features of GSDV.",GHR,glycogen storage disease type V +Is glycogen storage disease type V inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type V +What are the treatments for glycogen storage disease type V ?,"These resources address the diagnosis or management of glycogen storage disease type V: - Gene Review: Gene Review: Glycogen Storage Disease Type V - Genetic Testing Registry: Glycogen storage disease, type V - MedlinePlus Encyclopedia: McArdle syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type V +What is (are) dyskeratosis congenita ?,"Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as ""lacy""; and white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals. People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of the urethra, which is the tube that carries urine out of the body from the bladder. Urethral stenosis may lead to difficult or painful urination and urinary tract infections. The severity of dyskeratosis congenita varies widely among affected individuals. The least severely affected individuals have only a few mild physical features of the disorder and normal bone marrow function. More severely affected individuals have many of the characteristic physical features and experience bone marrow failure, cancer, or pulmonary fibrosis by early adulthood. While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some severely affected individuals. In one severe form of the disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita.",GHR,dyskeratosis congenita +How many people are affected by dyskeratosis congenita ?,The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people.,GHR,dyskeratosis congenita +What are the genetic changes related to dyskeratosis congenita ?,"In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. In a small number of individuals with dyskeratosis congenita, mutations in other genes involved with telomere maintenance have been identified. Other affected individuals have no mutations in any of the genes currently associated with dyskeratosis congenita. In these cases, the cause of the disorder is unknown, but other unidentified genes related to telomere maintenance are likely involved. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). Telomeres are maintained by two important protein complexes called telomerase and shelterin. Telomerase helps maintain normal telomere length by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. The main components of telomerase, called hTR and hTERT, are produced from the TERC and TERT genes, respectively. The hTR component is an RNA molecule, a chemical cousin of DNA. It provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The function of the hTERT component is to add the new DNA segment to chromosome ends. The DKC1 gene provides instructions for making another protein that is important in telomerase function. This protein, called dyskerin, attaches (binds) to hTR and helps stabilize the telomerase complex. The shelterin complex helps protect telomeres from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the chromosome ends as abnormal breaks in the DNA sequence and either attempt to join the ends together or initiate apoptosis. The TINF2 gene provides instructions for making a protein that is part of the shelterin complex. TERT, TERC, DKC1, or TINF2 gene mutations result in dysfunction of the telomerase or shelterin complexes, leading to impaired maintenance of telomeres and reduced telomere length. Cells that divide rapidly are especially vulnerable to the effects of shortened telomeres. As a result, people with dyskeratosis congenita may experience a variety of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow. Breakage and instability of chromosomes resulting from inadequate telomere maintenance may lead to genetic changes that allow cells to divide in an uncontrolled way, resulting in the development of cancer in people with dyskeratosis congenita.",GHR,dyskeratosis congenita +Is dyskeratosis congenita inherited ?,"Dyskeratosis congenita can have different inheritance patterns. When dyskeratosis congenita is caused by DKC1 gene mutations, it is inherited in an X-linked recessive pattern. The DKC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dyskeratosis congenita +What are the treatments for dyskeratosis congenita ?,These resources address the diagnosis or management of dyskeratosis congenita: - Gene Review: Gene Review: Dyskeratosis Congenita - Genetic Testing Registry: Dyskeratosis congenita - Genetic Testing Registry: Dyskeratosis congenita X-linked - Genetic Testing Registry: Dyskeratosis congenita autosomal dominant - Genetic Testing Registry: Dyskeratosis congenita autosomal recessive 1 - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dyskeratosis congenita +What is (are) familial encephalopathy with neuroserpin inclusion bodies ?,"Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired. Affected people lose the ability to perform the activities of daily living, and most eventually require comprehensive care. The signs and symptoms of FENIB vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties.",GHR,familial encephalopathy with neuroserpin inclusion bodies +How many people are affected by familial encephalopathy with neuroserpin inclusion bodies ?,This condition appears to be rare; only a few affected individuals have been reported worldwide.,GHR,familial encephalopathy with neuroserpin inclusion bodies +What are the genetic changes related to familial encephalopathy with neuroserpin inclusion bodies ?,"FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with one another, which suggests that it may be important for learning and memory. Mutations in the SERPINI1 gene result in the production of an abnormally shaped, unstable form of neuroserpin. Within neurons, defective neuroserpin proteins can attach to one another and form clumps called neuroserpin inclusion bodies or Collins bodies. These clumps disrupt the cells' normal functioning and ultimately lead to cell death. The gradual loss of neurons in certain parts of the brain causes progressive dementia. Researchers believe that a buildup of related, potentially toxic substances in neurons may also contribute to the signs and symptoms of this condition.",GHR,familial encephalopathy with neuroserpin inclusion bodies +Is familial encephalopathy with neuroserpin inclusion bodies inherited ?,"FENIB is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent with the condition.",GHR,familial encephalopathy with neuroserpin inclusion bodies +What are the treatments for familial encephalopathy with neuroserpin inclusion bodies ?,These resources address the diagnosis or management of FENIB: - Genetic Testing Registry: Familial encephalopathy with neuroserpin inclusion bodies - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial encephalopathy with neuroserpin inclusion bodies +What is (are) craniofacial-deafness-hand syndrome ?,"Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and a flattened mid-face with a flat nasal bridge. Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed openings of the eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a small mouth with pursed lips. People with this condition also have profound hearing loss that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth. In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may also have permanently bent third, fourth, and fifth fingers (camptodactyly), which can limit finger movement and lead to joint deformities called contractures. Contractures in the wrist can further impair hand movements.",GHR,craniofacial-deafness-hand syndrome +How many people are affected by craniofacial-deafness-hand syndrome ?,Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a few cases have been reported in the scientific literature.,GHR,craniofacial-deafness-hand syndrome +What are the genetic changes related to craniofacial-deafness-hand syndrome ?,"Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help control the activity of particular genes. During embryonic development, the PAX3 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo. The protein produced from the PAX3 gene directs the activity of other genes that signal neural crest cells to form specialized tissues or cell types. These include some nerve tissues, bones in the face and skull (craniofacial bones), and muscle tissue. At least one PAX3 gene mutation has been identified in individuals with craniofacial-deafness-hand syndrome. This mutation appears to affect the ability of the PAX3 protein to bind to DNA. As a result, the PAX3 protein cannot control the activity of other genes and cannot regulate the differentiation of neural crest cells. A lack of specialization of neural crest cells leads to the impaired growth of craniofacial bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome.",GHR,craniofacial-deafness-hand syndrome +Is craniofacial-deafness-hand syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,craniofacial-deafness-hand syndrome +What are the treatments for craniofacial-deafness-hand syndrome ?,These resources address the diagnosis or management of craniofacial-deafness-hand syndrome: - Genetic Testing Registry: Craniofacial deafness hand syndrome - Johns Hopkins Children's Center: Hearing Loss These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,craniofacial-deafness-hand syndrome +What is (are) Apert syndrome ?,"Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).",GHR,Apert syndrome +How many people are affected by Apert syndrome ?,"Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.",GHR,Apert syndrome +What are the genetic changes related to Apert syndrome ?,"Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.",GHR,Apert syndrome +Is Apert syndrome inherited ?,"Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.",GHR,Apert syndrome +What are the treatments for Apert syndrome ?,These resources address the diagnosis or management of Apert syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Acrocephalosyndactyly type I - MedlinePlus Encyclopedia: Apert syndrome - MedlinePlus Encyclopedia: Webbing of the fingers or toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Apert syndrome +What is (are) adult polyglucosan body disease ?,"Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia). People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60.",GHR,adult polyglucosan body disease +How many people are affected by adult polyglucosan body disease ?,"Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature.",GHR,adult polyglucosan body disease +What are the genetic changes related to adult polyglucosan body disease ?,"Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations result in a shortage (deficiency) of the glycogen branching enzyme, which leads to the production of abnormal glycogen molecules. These abnormal glycogen molecules, called polyglucosan bodies, accumulate within cells and cause damage. Nerve cells (neurons) appear to be particularly vulnerable to the accumulation of polyglucosan bodies in people with this disorder, leading to impaired neuronal function. Some mutations in the GBE1 gene that cause adult polyglucosan body disease do not result in a shortage of glycogen branching enzyme. In people with these mutations, the activity of this enzyme is normal. How mutations cause the disease in these individuals is unclear. Other people with adult polyglucosan body disease do not have identified mutations in the GBE1 gene. In these individuals, the cause of the disease is unknown.",GHR,adult polyglucosan body disease +Is adult polyglucosan body disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,adult polyglucosan body disease +What are the treatments for adult polyglucosan body disease ?,"These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladder - MedlinePlus Encyclopedia: Spasticity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,adult polyglucosan body disease +What is (are) X-linked chondrodysplasia punctata 2 ?,"X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with this condition tend to have short stature. Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps. Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision. In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more severe form of the condition has been reported in a small number of males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males.",GHR,X-linked chondrodysplasia punctata 2 +How many people are affected by X-linked chondrodysplasia punctata 2 ?,"X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia punctata 2 occur in females. About a dozen males with the condition have been reported in the scientific literature.",GHR,X-linked chondrodysplasia punctata 2 +What are the genetic changes related to X-linked chondrodysplasia punctata 2 ?,"X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids. Mutations in the EBP gene reduce the activity of 3-hydroxysteroid-8,7-isomerase, preventing cells from producing enough cholesterol. A shortage of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the body. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of X-linked chondrodysplasia punctata 2.",GHR,X-linked chondrodysplasia punctata 2 +Is X-linked chondrodysplasia punctata 2 inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of 3-hydroxysteroid-8,7-isomerase and other cells produce none. The resulting overall reduction in the amount of this enzyme underlies the signs and symptoms of X-linked chondrodysplasia punctata 2. In males (who have only one X chromosome), a mutation in the EBP gene can result in a total loss of 3-hydroxysteroid-8,7-isomerase. A complete lack of this enzyme is usually lethal in the early stages of development, so few males have been born with X-linked chondrodysplasia punctata 2.",GHR,X-linked chondrodysplasia punctata 2 +What are the treatments for X-linked chondrodysplasia punctata 2 ?,"These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked chondrodysplasia punctata 2 +What is (are) fragile X-associated primary ovarian insufficiency ?,"Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems. The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.",GHR,fragile X-associated primary ovarian insufficiency +How many people are affected by fragile X-associated primary ovarian insufficiency ?,"An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women.",GHR,fragile X-associated primary ovarian insufficiency +What are the genetic changes related to fragile X-associated primary ovarian insufficiency ?,"Mutations in the FMR1 gene increase a woman's risk of developing FXPOI. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. This protein plays a role in the functioning of nerve cells. It is also important for normal ovarian function, although the role is not fully understood. Women with FXPOI have a mutation in which a DNA segment, known as a CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In women with FXPOI, however, the CGG segment is repeated 55 to 200 times. This mutation is known as an FMR1 gene premutation. Some studies show that women with about 44 to 54 CGG repeats, known as an intermediate (or gray zone) mutation, can also have features of FXPOI. An expansion of more than 200 repeats, a full mutation, causes a more serious disorder called fragile X syndrome, which is characterized by intellectual disability, learning problems, and certain physical features. For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. The FMR1 mRNA is the genetic blueprint for FMRP. Researchers believe that the high levels of mRNA cause the signs and symptoms of FXPOI. It is thought that the mRNA attaches to other proteins and keeps them from performing their functions. In addition, the repeats make producing FMRP from the blueprint more difficult, and as a result, people with the FMR1 gene premutation can have less FMRP than normal. A reduction of this protein is not thought to be involved in FXPOI. However, it may cause mild versions of the features seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings.",GHR,fragile X-associated primary ovarian insufficiency +Is fragile X-associated primary ovarian insufficiency inherited ?,"An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXPOI. In females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell can lead to the disorder. However, not all women who inherit an FMR1 premutation will develop FXPOI. Because males do not have ovaries, they are unaffected.",GHR,fragile X-associated primary ovarian insufficiency +What are the treatments for fragile X-associated primary ovarian insufficiency ?,These resources address the diagnosis or management of FXPOI: - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Premature ovarian failure 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fragile X-associated primary ovarian insufficiency +What is (are) 18q deletion syndrome ?,"18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to severe, but some affected individuals have normal intelligence and development. Seizures, hyperactivity, aggression, and autistic behaviors that affect communication and social interaction may also occur. Some people with 18q deletion syndrome have a loss of tissue called white matter in the brain and spinal cord (leukodystrophy), structural abnormalities of the brain, or an abnormally small head size (microcephaly). Other features that are common in 18q deletion syndrome include short stature, weak muscle tone (hypotonia), narrow auditory canals leading to hearing loss, and limb abnormalities such as foot deformities and thumbs that are positioned unusually close to the wrist. Some affected individuals have mild facial differences such as deep-set eyes, a flat or sunken appearance of the middle of the face (midface hypoplasia), a wide mouth, and prominent ears; these features are often not noticeable except in a detailed medical evaluation. Eye movement disorders and other vision problems, genital abnormalities, heart disease, and skin problems may also occur in this disorder.",GHR,18q deletion syndrome +How many people are affected by 18q deletion syndrome ?,"18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds.",GHR,18q deletion syndrome +What are the genetic changes related to 18q deletion syndrome ?,"18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The size of the deletion and its location on the chromosome vary among affected individuals. The signs and symptoms of 18q deletion syndrome, including the leukodystrophy that likely contributes to the neurological problems, are probably related to the loss of multiple genes on the long arm of chromosome 18. 18q deletion syndrome is often categorized into two types: individuals with deletions near the end of the long arm of chromosome 18 are said to have distal 18q deletion syndrome, and those with deletions in the part of the long arm near the center of chromosome 18 are said to have proximal 18q deletion syndrome. The signs and symptoms of these two types of the condition are overlapping, with certain features being more common in one form of the disorder than in the other. For example, hearing loss and heart abnormalities are more common in people with distal 18q deletion syndrome, while seizures occur more often in people with proximal 18q deletion syndrome. Researchers are working to determine how the loss of specific genes in these regions contributes to the various features of 18q deletion syndrome.",GHR,18q deletion syndrome +Is 18q deletion syndrome inherited ?,"Most cases of 18q deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. In some cases, 18q deletion syndrome is inherited, usually from a mildly affected parent. The deletion can also be inherited from an unaffected parent who carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Individuals with a balanced translocation do not usually have any related health problems; however, the translocation can become unbalanced as it is passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 18q deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 18, which results in the signs and symptoms of this disorder.",GHR,18q deletion syndrome +What are the treatments for 18q deletion syndrome ?,These resources address the diagnosis or management of 18q deletion syndrome: - Gene Review: Gene Review: Leukodystrophy Overview - University of Texas Chromosome 18 Clinical Research Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,18q deletion syndrome +What is (are) CHST3-related skeletal dysplasia ?,"CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals. Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene.",GHR,CHST3-related skeletal dysplasia +How many people are affected by CHST3-related skeletal dysplasia ?,The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported.,GHR,CHST3-related skeletal dysplasia +What are the genetic changes related to CHST3-related skeletal dysplasia ?,"As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the CHST3 gene reduce or eliminate the activity of the C6ST-1 enzyme. A shortage of this enzyme disrupts the normal development of cartilage and bone, resulting in the abnormalities associated with CHST3-related skeletal dysplasia.",GHR,CHST3-related skeletal dysplasia +Is CHST3-related skeletal dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,CHST3-related skeletal dysplasia +What are the treatments for CHST3-related skeletal dysplasia ?,These resources address the diagnosis or management of CHST3-related skeletal dysplasia: - Gene Review: Gene Review: CHST3-Related Skeletal Dysplasia - Genetic Testing Registry: Spondyloepiphyseal dysplasia with congenital joint dislocations These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,CHST3-related skeletal dysplasia +What is (are) X-linked spondyloepiphyseal dysplasia tarda ?,"X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. ""Tarda"" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10. Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk and neck, and their arms appear disproportionately long. Impaired growth of the spinal bones (vertebrae) causes the short stature seen in this disorder. The spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and decreased mobility of the elbow and hip joints. Arthritis often develops in early adulthood, typically affecting the hip joints and spine.",GHR,X-linked spondyloepiphyseal dysplasia tarda +How many people are affected by X-linked spondyloepiphyseal dysplasia tarda ?,"The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated to be 1 in 150,000 to 200,000 people worldwide.",GHR,X-linked spondyloepiphyseal dysplasia tarda +What are the genetic changes related to X-linked spondyloepiphyseal dysplasia tarda ?,"Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Because sedlin is active (expressed) in cells throughout the body; it is unclear why mutations in the TRAPPC2 gene affect only bone growth.",GHR,X-linked spondyloepiphyseal dysplasia tarda +Is X-linked spondyloepiphyseal dysplasia tarda inherited ?,"X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a TRAPPC2 mutation may develop arthritis in early adulthood.",GHR,X-linked spondyloepiphyseal dysplasia tarda +What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ?,These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked spondyloepiphyseal dysplasia tarda +What is (are) thiopurine S-methyltransferase deficiency ?,"Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs are used to treat some autoimmune disorders, including Crohn disease and rheumatoid arthritis, which occur when the immune system malfunctions. These drugs are also used to treat several forms of cancer, particularly cancers of blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). Additionally, thiopurine drugs are used in organ transplant recipients to help prevent the immune system from attacking the transplanted organ. A potential complication of treatment with thiopurine drugs is damage to the bone marrow (hematopoietic toxicity). Although this complication can occur in anyone who takes these drugs, people with TPMT deficiency are at highest risk. Bone marrow normally makes several types of blood cells, including red blood cells, which carry oxygen; white blood cells, which help protect the body from infection; and platelets, which are involved in blood clotting. Damage to the bone marrow results in myelosuppression, a condition in which the bone marrow is unable to make enough of these cells. A shortage of red blood cells (anemia) can cause pale skin (pallor), weakness, shortness of breath, and extreme tiredness (fatigue). Low numbers of white blood cells (neutropenia) can lead to frequent and potentially life-threatening infections. A shortage of platelets (thrombocytopenia) can cause easy bruising and bleeding. Many healthcare providers recommend that patients' TPMT activity levels be tested before thiopurine drugs are prescribed. In people who are found to have reduced enzyme activity, the drugs may be given at a significantly lower dose or different medications can be used to reduce the risk of hematopoietic toxicity. TPMT deficiency does not appear to cause any health problems other than those associated with thiopurine drug treatment.",GHR,thiopurine S-methyltransferase deficiency +How many people are affected by thiopurine S-methyltransferase deficiency ?,Studies suggest that less than 1 percent of individuals in the general population have TPMT deficiency. Another 11 percent have moderately reduced levels of TPMT activity that increase their risk of hematopoietic toxicity with thiopurine drug treatment.,GHR,thiopurine S-methyltransferase deficiency +What are the genetic changes related to thiopurine S-methyltransferase deficiency ?,"TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. The TPMT enzyme ""turns off"" thiopurine drugs by breaking them down into inactive, nontoxic compounds. Changes in the TPMT gene reduce the stability and activity of the TPMT enzyme. Without enough of this enzyme, the drugs cannot be ""turned off,"" so they stay in the body longer and continue to destroy cells unchecked. The resulting damage to the bone marrow leads to potentially life-threatening myelosuppression.",GHR,thiopurine S-methyltransferase deficiency +Is thiopurine S-methyltransferase deficiency inherited ?,"The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. When the gene is altered in a way that impairs the activity of the TPMT enzyme, it is described as low-activity. When the gene is unaltered and TPMT activity is normal, it is described as high-activity. Because two copies of the gene are present in each cell, each person can have two low-activity copies, one low-activity copy and one high-activity copy, or two high-activity copies. People with two low-activity copies of the TPMT gene in each cell have TPMT deficiency and are at the greatest risk of developing hematopoietic toxicity when treated with thiopurine drugs unless they are given much less than the usual dose. People with one high-activity copy and one low-activity copy have moderately reduced enzyme activity and are also at increased risk of this complication unless given a significantly lower dose of the drug. People with two high-activity copies have normal TPMT activity and do not have an increased risk of hematopoietic toxicity with thiopurine drug treatment.",GHR,thiopurine S-methyltransferase deficiency +What are the treatments for thiopurine S-methyltransferase deficiency ?,These resources address the diagnosis or management of thiopurine S-methyltransferase deficiency: - MedlinePlus Drug: Azathioprine - MedlinePlus Drug: Mercaptopurine - MedlinePlus Drug: Thioguanine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,thiopurine S-methyltransferase deficiency +What is (are) 7q11.23 duplication syndrome ?,"7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11.23 duplication syndrome typically have delayed development of speech and delayed motor skills such as crawling and walking. Speech problems and abnormalities in the way affected individuals walk and stand may persist throughout life. Affected individuals may also have weak muscle tone (hypotonia) and abnormal movements, such as involuntary movements of one side of the body that mirror intentional movements of the other side. Behavioral problems associated with this condition include anxiety disorders (such as social phobias and selective mutism, which is an inability to speak in certain circumstances), attention deficit hyperactivity disorder (ADHD), physical aggression, excessively defiant behavior (oppositional disorder), and autistic behaviors that affect communication and social interaction. While the majority of people with 7q11.23 duplication syndrome have low-average to average intelligence, intellectual development varies widely in this condition, from intellectual disability to, rarely, above-average intelligence. About one-fifth of people with 7q11.23 duplication syndrome experience seizures. About half of individuals with 7q11.23 duplication syndrome have enlargement (dilatation) of the blood vessel that carries blood from the heart to the rest of the body (the aorta); this enlargement can get worse over time. Aortic dilatation can lead to life-threatening complications if the wall of the aorta separates into layers (aortic dissection) or breaks open (ruptures). The characteristic appearance of people with 7q11.23 duplication syndrome can include a large head (macrocephaly) that is flattened in the back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes with long eyelashes. The nose may be broad at the tip with the area separating the nostrils attaching lower than usual on the face (low insertion of the columella), resulting in a shortened area between the nose and the upper lip (philtrum). A high arch in the roof of the mouth (high-arched palate) and ear abnormalities may also occur in affected individuals.",GHR,7q11.23 duplication syndrome +How many people are affected by 7q11.23 duplication syndrome ?,"The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 people.",GHR,7q11.23 duplication syndrome +What are the genetic changes related to 7q11.23 duplication syndrome ?,"7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes. Extra copies of several of the genes in the duplicated region, including the ELN and GTF2I genes, likely contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers suggest that an extra copy of the ELN gene in each cell may be related to the increased risk for aortic dilatation in 7q11.23 duplication syndrome. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of the disorder. However, the specific causes of these features are unclear. Researchers are studying additional genes in the duplicated region, but none have been definitely linked to any of the specific signs or symptoms of 7q11.23 duplication syndrome.",GHR,7q11.23 duplication syndrome +Is 7q11.23 duplication syndrome inherited ?,"7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent.",GHR,7q11.23 duplication syndrome +What are the treatments for 7q11.23 duplication syndrome ?,These resources address the diagnosis or management of 7q11.23 duplication syndrome: - Cardiff University (United Kingdom): Copy Number Variant Research - Gene Review: Gene Review: 7q11.23 Duplication Syndrome - Genetic Testing Registry: Williams-Beuren region duplication syndrome - University of Antwerp (Belgium): 7q11.23 Research Project - University of Louisville: 7q11.23 Duplication Syndrome Research - University of Toronto: 7q11.23 Duplication Syndrome Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,7q11.23 duplication syndrome +What is (are) 22q11.2 deletion syndrome ?,"22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones. Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention deficit hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorders that affect communication and social interaction. Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.",GHR,22q11.2 deletion syndrome +How many people are affected by 22q11.2 deletion syndrome ?,"22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.",GHR,22q11.2 deletion syndrome +What are the genetic changes related to 22q11.2 deletion syndrome ?,"Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome.",GHR,22q11.2 deletion syndrome +Is 22q11.2 deletion syndrome inherited ?,"The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well.",GHR,22q11.2 deletion syndrome +What are the treatments for 22q11.2 deletion syndrome ?,These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Shprintzen syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,22q11.2 deletion syndrome +What is (are) diastrophic dysplasia ?,"Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears. The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.",GHR,diastrophic dysplasia +How many people are affected by diastrophic dysplasia ?,"Although the exact incidence of this condition is unknown, researchers estimate that it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland.",GHR,diastrophic dysplasia +What are the genetic changes related to diastrophic dysplasia ?,"Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.",GHR,diastrophic dysplasia +Is diastrophic dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,diastrophic dysplasia +What are the treatments for diastrophic dysplasia ?,These resources address the diagnosis or management of diastrophic dysplasia: - Gene Review: Gene Review: Diastrophic Dysplasia - Genetic Testing Registry: Diastrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,diastrophic dysplasia +"What is (are) congenital cataracts, facial dysmorphism, and neuropathy ?","Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw. CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine. People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density. A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.",GHR,"congenital cataracts, facial dysmorphism, and neuropathy" +"How many people are affected by congenital cataracts, facial dysmorphism, and neuropathy ?","The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community.",GHR,"congenital cataracts, facial dysmorphism, and neuropathy" +"What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ?","A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.",GHR,"congenital cataracts, facial dysmorphism, and neuropathy" +"Is congenital cataracts, facial dysmorphism, and neuropathy inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"congenital cataracts, facial dysmorphism, and neuropathy" +"What are the treatments for congenital cataracts, facial dysmorphism, and neuropathy ?","These resources address the diagnosis or management of CCFDN: - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"congenital cataracts, facial dysmorphism, and neuropathy" +What is (are) multiple mitochondrial dysfunctions syndrome ?,"Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy. Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).",GHR,multiple mitochondrial dysfunctions syndrome +How many people are affected by multiple mitochondrial dysfunctions syndrome ?,"Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.",GHR,multiple mitochondrial dysfunctions syndrome +What are the genetic changes related to multiple mitochondrial dysfunctions syndrome ?,"Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. Certain proteins require attachment of Fe-S clusters to function properly. The NFU-1 and BOLA3 proteins play an important role in mitochondria. In these structures, several proteins carry out a series of chemical steps to convert the energy in food into a form that cells can use. Many of the proteins involved in these steps require Fe-S clusters to function, including protein complexes called complex I, complex II, and complex III. Fe-S clusters are also required for another mitochondrial protein to function; this protein is involved in the modification of additional proteins that aid in energy production in mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex (also known as the oxoglutarate dehydrogenase complex). This modification is also critical to the function of the glycine cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine when levels become too high. Mutations in the NFU1 or BOLA3 gene reduce or eliminate production of the respective protein, which impairs Fe-S cluster formation. Consequently, proteins affected by the presence of Fe-S clusters, including those involved in energy production and glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine.",GHR,multiple mitochondrial dysfunctions syndrome +Is multiple mitochondrial dysfunctions syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,multiple mitochondrial dysfunctions syndrome +What are the treatments for multiple mitochondrial dysfunctions syndrome ?,These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple mitochondrial dysfunctions syndrome +What is (are) Dowling-Degos disease ?,"Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems. Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented). The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems. A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.",GHR,Dowling-Degos disease +How many people are affected by Dowling-Degos disease ?,"Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown.",GHR,Dowling-Degos disease +What are the genetic changes related to Dowling-Degos disease ?,"Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called keratinocytes found in the outer layer of the skin (the epidermis). Keratin 5 is one component of molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. Researchers believe that keratin 5 may also play a role in transporting melanosomes, which are cellular structures that produce a pigment called melanin. The transport of these structures into keratinocytes is important for normal skin coloration (pigmentation). KRT5 gene mutations that cause Dowling-Degos disease lead to a decrease in the amount of functional keratin 5 protein that is produced. A reduction in keratin 5 can impair the formation of keratin intermediate filaments. As a result, the normal organization of the epidermis is altered, leading to the development of different types of skin lesions. Additionally, a decrease in keratin 5 may disrupt the movement of pigment-carrying melanosomes into keratinocytes, where they are needed for normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease. Some people with Dowling-Degos disease do not have an identified mutation in the KRT5 gene. In these cases, the cause of the condition is unknown.",GHR,Dowling-Degos disease +Is Dowling-Degos disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Dowling-Degos disease +What are the treatments for Dowling-Degos disease ?,These resources address the diagnosis or management of Dowling-Degos disease: - Cleveland Clinic: Skin Care Concerns - Genetic Testing Registry: Reticulate acropigmentation of Kitamura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Dowling-Degos disease +What is (are) Sandhoff disease ?,"Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have enlarged organs (organomegaly) or bone abnormalities. Children with the severe infantile form of Sandhoff disease usually live only into early childhood. Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease.",GHR,Sandhoff disease +How many people are affected by Sandhoff disease ?,"Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon.",GHR,Sandhoff disease +What are the genetic changes related to Sandhoff disease ?,"Mutations in the HEXB gene cause Sandhoff disease. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXB gene disrupt the activity of beta-hexosaminidase A and beta-hexosaminidase B, which prevents these enzymes from breaking down GM2 ganglioside and other molecules. As a result, these compounds can accumulate to toxic levels, particularly in neurons of the brain and spinal cord. A buildup of GM2 ganglioside leads to the progressive destruction of these neurons, which causes many of the signs and symptoms of Sandhoff disease. Because Sandhoff disease impairs the function of lysosomal enzymes and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.",GHR,Sandhoff disease +Is Sandhoff disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Sandhoff disease +What are the treatments for Sandhoff disease ?,These resources address the diagnosis or management of Sandhoff disease: - Genetic Testing Registry: Sandhoff disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Sandhoff disease +What is (are) dihydrolipoamide dehydrogenase deficiency ?,"Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals. A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy). As the problems worsen, affected infants can have difficulty feeding, decreased alertness, and seizures. Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. In some affected people, liver disease, which can begin anytime from infancy to adulthood, is the primary symptom. The liver problems are usually associated with recurrent vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase deficiency experience weakness of the muscles used for movement (skeletal muscles), particularly during exercise; droopy eyelids; or a weakened heart muscle (cardiomyopathy). Other features of this condition include excess ammonia in the blood (hyperammonemia), a buildup of molecules called ketones in the body (ketoacidosis), or low blood sugar levels (hypoglycemia). Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency occur in episodes that may be triggered by fever, injury, or other stresses on the body. Affected individuals are usually symptom-free between episodes. Many infants with this condition do not survive the first few years of life because of the severity of these episodes. Affected individuals who survive past early childhood often have delayed growth and neurological problems, including intellectual disability, muscle stiffness (spasticity), difficulty coordinating movements (ataxia), and seizures.",GHR,dihydrolipoamide dehydrogenase deficiency +How many people are affected by dihydrolipoamide dehydrogenase deficiency ?,"Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely rare.",GHR,dihydrolipoamide dehydrogenase deficiency +What are the genetic changes related to dihydrolipoamide dehydrogenase deficiency ?,"Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. This gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one component of three different groups of enzymes that work together (enzyme complexes): branched-chain alpha-keto acid dehydrogenase (BCKD), pyruvate dehydrogenase (PDH), and alpha ()-ketoglutarate dehydrogenase (KGDH). The BCKD enzyme complex is involved in the breakdown of three protein building blocks (amino acids) commonly found in protein-rich foods: leucine, isoleucine, and valine. Breakdown of these amino acids produces molecules that can be used for energy. The PDH and KGDH enzyme complexes are involved in other reactions in the pathways that convert the energy from food into a form that cells can use. Mutations in the DLD gene impair the function of the DLD enzyme, which prevents the three enzyme complexes from functioning properly. As a result, molecules that are normally broken down and their byproducts build up in the body, damaging tissues and leading to lactic acidosis and other chemical imbalances. In addition, the production of cellular energy is diminished. The brain is especially affected by the buildup of molecules and the lack of cellular energy, resulting in the neurological problems associated with dihydrolipoamide dehydrogenase deficiency. Liver problems are likely also related to decreased energy production in cells. The degree of impairment of each complex contributes to the variability in the features of this condition.",GHR,dihydrolipoamide dehydrogenase deficiency +Is dihydrolipoamide dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dihydrolipoamide dehydrogenase deficiency +What are the treatments for dihydrolipoamide dehydrogenase deficiency ?,"These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,dihydrolipoamide dehydrogenase deficiency +What is (are) spondyloperipheral dysplasia ?,"Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.",GHR,spondyloperipheral dysplasia +How many people are affected by spondyloperipheral dysplasia ?,This condition is rare; only a few affected individuals have been reported worldwide.,GHR,spondyloperipheral dysplasia +What are the genetic changes related to spondyloperipheral dysplasia ?,"Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the signs and symptoms of spondyloperipheral dysplasia.",GHR,spondyloperipheral dysplasia +Is spondyloperipheral dysplasia inherited ?,"This condition is probably inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,spondyloperipheral dysplasia +What are the treatments for spondyloperipheral dysplasia ?,These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spondyloperipheral dysplasia +"What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?","The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth restriction) and are small in infancy. They have skeletal abnormalities that often become apparent in early childhood, although these abnormalities are usually mild and can be difficult to recognize on x-rays. The most common bone changes are metaphyseal dysplasia and epiphyseal dysplasia; these are malformations of the ends of long bones in the arms and legs. Some affected individuals also have an abnormal side-to-side curvature of the spine (scoliosis) or thinning of the bones (osteoporosis). Adrenal hypoplasia congenita is the most severe feature of IMAGe syndrome. The adrenal glands are a pair of small glands on top of each kidney. They produce a variety of hormones that regulate many essential functions in the body. Underdevelopment (hypoplasia) of these glands prevents them from producing enough hormones, a condition known as adrenal insufficiency. The signs of adrenal insufficiency begin shortly after birth and include vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications can be life-threatening. The genital abnormalities associated with IMAGe syndrome occur only in affected males. They include an unusually small penis (micropenis), undescended testes (cryptorchidism), and the opening of the urethra on the underside of the penis (hypospadias). Several additional signs and symptoms have been reported in people with IMAGe syndrome. Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge. Less commonly, people with this condition have premature fusion of certain bones of the skull (craniosynostosis), a split in the soft flap of tissue that hangs from the back of the mouth (cleft or bifid uvula), a high-arched roof of the mouth (palate), and a small chin (micrognathia). Other possible features of IMAGe syndrome include high levels of calcium in the blood (hypercalcemia) or urine (hypercalcuria) and a shortage of growth hormone in childhood that results in short stature.",GHR,"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" +"How many people are affected by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?","IMAGe syndrome is very rare, with only about 20 cases reported in the medical literature. The condition has been diagnosed more often in males than in females, probably because females do not have associated genital abnormalities.",GHR,"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" +"What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?","IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. Researchers are working to determine how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms of this condition. People inherit one copy of most genes from their mother and one copy from their father. For most genes, both copies are fully turned on (active) in cells. The CDKN1C gene, however, is most active when it is inherited from a person's mother. The copy of CDKN1C inherited from a person's father is active at much lower levels in most tissues. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the activity of the copy of a gene inherited from the father, that gene is said to be paternally imprinted.",GHR,"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" +"Is intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies inherited ?","The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is present on the maternally inherited copy of the gene. When a mutation affects the paternally inherited copy of the CDKN1C gene, it does not cause health problems. Therefore, IMAGe syndrome is passed only from mothers to their children.",GHR,"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" +"What are the treatments for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?","These resources address the diagnosis or management of IMAGe syndrome: - Gene Review: Gene Review: IMAGe Syndrome - Genetic Testing Registry: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" +What is (are) SOST-related sclerosing bone dysplasia ?,"SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misaligned teeth. People with this condition may also have a sunken appearance of the middle of the face (midface hypoplasia), bulging eyes with shallow eye sockets (ocular proptosis), and a prominent forehead. People with this condition often experience headaches because increased thickness of the skull bones increases pressure on the brain. The excessive bone formation seen in this condition seems to occur throughout a person's life, so the skeletal features become more pronounced over time. However, the excessive bone growth may only occur in certain areas. Abnormal bone growth can pinch (compress) the cranial nerves, which emerge from the brain and extend to various areas of the head and neck. Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), hearing loss, vision loss, and a sense of smell that is diminished (hyposmia) or completely absent (anosmia). Abnormal bone growth can cause life-threatening complications if it compresses the part of the brain that is connected to the spinal cord (the brainstem). There are two forms of SOST-related sclerosing bone dysplasia: sclerosteosis and van Buchem disease. The two forms are distinguished by the severity of their symptoms. Sclerosteosis is the more severe form of the disorder. People with sclerosteosis are often tall and have webbed or fused fingers (syndactyly), most often involving the second and third fingers. The syndactyly is present from birth, while the skeletal features typically appear in early childhood. People with sclerosteosis may also have absent or malformed nails. Van Buchem disease represents the milder form of the disorder. People with van Buchem disease are typically of average height and do not have syndactyly or nail abnormalities. Affected individuals tend to have less severe cranial nerve compression, resulting in milder neurological features. In people with van Buchem disease, the skeletal features typically appear in childhood or adolescence.",GHR,SOST-related sclerosing bone dysplasia +How many people are affected by SOST-related sclerosing bone dysplasia ?,SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. Van Buchem disease has been reported in approximately 30 people. Most people with van Buchem disease are of Dutch ancestry.,GHR,SOST-related sclerosing bone dysplasia +What are the genetic changes related to SOST-related sclerosing bone dysplasia ?,"SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation. Mutations in the SOST gene that cause sclerosteosis prevent the production of any functional sclerostin. A lack of sclerostin disrupts the inhibitory role it plays during bone formation, causing excessive bone growth. SOST mutations that cause van Buchem disease result in a shortage of functional sclerostin. This shortage reduces the protein's ability to inhibit bone formation, causing the excessive bone growth seen in people with van Buchem disease.",GHR,SOST-related sclerosing bone dysplasia +Is SOST-related sclerosing bone dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,SOST-related sclerosing bone dysplasia +What are the treatments for SOST-related sclerosing bone dysplasia ?,These resources address the diagnosis or management of SOST-related sclerosing bone dysplasia: - Gene Review: Gene Review: SOST-Related Sclerosing Bone Dysplasias - Genetic Testing Registry: Hyperphosphatasemia tarda - Genetic Testing Registry: Sclerosteosis - MedlinePlus Encyclopedia: Facial Paralysis - MedlinePlus Encyclopedia: Smell--Impaired These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,SOST-related sclerosing bone dysplasia +What is (are) spondyloenchondrodysplasia with immune dysregulation ?,"Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on the long bones and spinal bones that can be seen on x-rays. Additional skeletal problems occur because of abnormalities of the tough, flexible tissue called cartilage that makes up much of the skeleton during early development. Individuals with SPENCDI often have areas where cartilage did not convert to bone. They may also have noncancerous growths of cartilage (enchondromas). The bone and cartilage problems contribute to short stature in people with SPENCDI. Individuals with SPENCDI have a combination of immune system problems. Many affected individuals have malfunctioning immune systems that attack the body's own tissues and organs, which is known as an autoimmune reaction. The malfunctioning immune system can lead to a variety of disorders, such as a decrease in blood cells called platelets (thrombocytopenia), premature destruction of red blood cells (hemolytic anemia), an underactive thyroid gland (hypothyroidism), or chronic inflammatory disorders such as systemic lupus erythematosus or rheumatoid arthritis. In addition, affected individuals often have abnormal immune cells that cannot grow and divide in response to harmful invaders such as bacteria and viruses. As a result of this immune deficiency, these individuals have frequent fevers and recurrent respiratory infections. Some people with SPENCDI have neurological problems such as abnormal muscle stiffness (spasticity), difficulty with coordinating movements (ataxia), and intellectual disability. They may also have abnormal deposits of calcium (calcification) in the brain. Due to the range of immune system problems, people with SPENCDI typically have a shortened life expectancy, but figures vary widely.",GHR,spondyloenchondrodysplasia with immune dysregulation +How many people are affected by spondyloenchondrodysplasia with immune dysregulation ?,"SPENCDI appears to be a rare condition, although its prevalence is unknown.",GHR,spondyloenchondrodysplasia with immune dysregulation +What are the genetic changes related to spondyloenchondrodysplasia with immune dysregulation ?,"Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced in bone cells called osteoclasts and in immune cells. Osteopontin performs a variety of functions in these cells. Osteoclasts are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. During bone remodeling, osteopontin is turned on (activated), allowing osteoclasts to attach (bind) to bones. When the breakdown of bone is complete, TRAP turns off (inactivates) osteopontin, causing the osteoclasts to release themselves from bone. In immune system cells, osteopontin helps fight infection by promoting inflammation, regulating immune cell activity, and turning on various immune system cells that are necessary to fight off foreign invaders. As in bone cells, the TRAP enzyme inactivates osteopontin in immune cells when it is no longer needed. The ACP5 gene mutations that cause SPENCDI impair or eliminate TRAP's ability to inactivate osteopontin. As a result, osteopontin is abnormally active, prolonging bone breakdown by osteoclasts and triggering abnormal inflammation and immune responses by immune cells. In people with SPENCDI, increased bone remodeling contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders and impairs the body's normal immune response to harmful invaders, resulting in frequent infections. The mechanism that leads to the other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown.",GHR,spondyloenchondrodysplasia with immune dysregulation +Is spondyloenchondrodysplasia with immune dysregulation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spondyloenchondrodysplasia with immune dysregulation +What are the treatments for spondyloenchondrodysplasia with immune dysregulation ?,These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spondyloenchondrodysplasia with immune dysregulation +What is (are) Kniest dysplasia ?,"Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.",GHR,Kniest dysplasia +How many people are affected by Kniest dysplasia ?,Kniest dysplasia is a rare condition; the exact incidence is unknown.,GHR,Kniest dysplasia +What are the genetic changes related to Kniest dysplasia ?,"Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Most mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules. Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of Kniest dysplasia.",GHR,Kniest dysplasia +Is Kniest dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Kniest dysplasia +What are the treatments for Kniest dysplasia ?,These resources address the diagnosis or management of Kniest dysplasia: - Genetic Testing Registry: Kniest dysplasia - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kniest dysplasia +What is (are) hypochromic microcytic anemia with iron overload ?,"Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth. In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.",GHR,hypochromic microcytic anemia with iron overload +How many people are affected by hypochromic microcytic anemia with iron overload ?,Hypochromic microcytic anemia with iron overload is likely a rare disorder; at least five affected families have been reported in the scientific literature.,GHR,hypochromic microcytic anemia with iron overload +What are the genetic changes related to hypochromic microcytic anemia with iron overload ?,"Mutations in the SLC11A2 gene cause hypochromic microcytic anemia with iron overload. The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). The DMT1 protein is found in all tissues, where its primary role is to transport positively charged iron atoms (ions) within cells. In a section of the small intestine called the duodenum, the DMT1 protein is located within finger-like projections called microvilli. These projections absorb nutrients from food as it passes through the intestine and then release them into the bloodstream. In all other cells, including immature red blood cells called erythroblasts, DMT1 is located in the membrane of endosomes, which are specialized compartments that are formed at the cell surface to carry proteins and other molecules to their destinations within the cell. DMT1 transports iron from the endosomes to the cytoplasm so it can be used by the cell. SLC11A2 gene mutations lead to reduced production of the DMT1 protein, decreased protein function, or impaired ability of the protein to get to the correct location in cells. In erythroblasts, a shortage of DMT1 protein diminishes the amount of iron transported within cells to attach to hemoglobin. As a result, the development of healthy red blood cells is impaired, leading to a shortage of these cells. In the duodenum, a shortage of DMT1 protein decreases iron absorption. To compensate, cells increase production of functional DMT1 protein, which increases iron absorption. Because the red blood cells cannot use the iron that is absorbed, it accumulates in the liver, eventually impairing liver function. The lack of involvement of other tissues in hypochromic microcytic anemia with iron overload is likely because these tissues have other ways to transport iron.",GHR,hypochromic microcytic anemia with iron overload +Is hypochromic microcytic anemia with iron overload inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hypochromic microcytic anemia with iron overload +What are the treatments for hypochromic microcytic anemia with iron overload ?,These resources address the diagnosis or management of hypochromic microcytic anemia with iron overload: - Genetic Testing Registry: Hypochromic microcytic anemia with iron overload These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypochromic microcytic anemia with iron overload +What is (are) erythrokeratodermia variabilis et progressiva ?,"Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are usually reddish-brown and can either be widespread over many parts of the body or occur only in a small area. They tend to be fixed, meaning they do not spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of thickened skin are generally symmetric, which means they occur in the same places on the right and left sides of the body. The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.",GHR,erythrokeratodermia variabilis et progressiva +How many people are affected by erythrokeratodermia variabilis et progressiva ?,EKVP is a rare disorder; its prevalence is unknown.,GHR,erythrokeratodermia variabilis et progressiva +What are the genetic changes related to erythrokeratodermia variabilis et progressiva ?,"EKVP can be caused by mutations in the GJB3 or GJB4 gene. These genes provide instructions for making proteins called connexin 31 and connexin 30.3, respectively. These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells. Gap junctions formed with connexin 31 and connexin 30.3 are found in several tissues, including the outermost layer of skin (the epidermis). The GJB3 and GJB4 gene mutations that cause EKVP alter the structure of the connexins produced from these genes. Studies suggest that the abnormal proteins can build up in a cell structure called the endoplasmic reticulum (ER), triggering a harmful process known as ER stress. Researchers suspect that ER stress damages and leads to the premature death of cells in the epidermis. This cell death leads to skin inflammation, which appears to underlie the development of erythematous areas. The mechanism by which epidermal damage and cell death contributes to hyperkeratosis is poorly understood. In some cases, affected individuals have no identified mutation in the GJB3 or GJB4 gene. In these individuals, the cause of the disorder is unknown. Researchers suspect that changes in other, unidentified genes may also be associated with EKVP.",GHR,erythrokeratodermia variabilis et progressiva +Is erythrokeratodermia variabilis et progressiva inherited ?,"EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family. A few studies have suggested that EKVP can also have an autosomal recessive pattern of inheritance. However, this inheritance pattern has only been reported in a small number of affected families, and not all researchers agree that it is truly autosomal recessive. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,erythrokeratodermia variabilis et progressiva +What are the treatments for erythrokeratodermia variabilis et progressiva ?,These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,erythrokeratodermia variabilis et progressiva +What is (are) Moebius syndrome ?,"Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals lack facial expressions; they cannot smile, frown, or raise their eyebrows. The muscle weakness also causes problems with feeding that become apparent in early infancy. Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common. Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes. Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.",GHR,Moebius syndrome +How many people are affected by Moebius syndrome ?,"The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns.",GHR,Moebius syndrome +What are the genetic changes related to Moebius syndrome ?,"The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. Certain medications taken during pregnancy and abuse of drugs such as cocaine may also be risk factors for Moebius syndrome. Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII. These nerves, which emerge from the brainstem at the back of the brain, control back-and-forth eye movement and facial expressions. The disorder can also affect other cranial nerves that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial muscle weakness or paralysis that is characteristic of Moebius syndrome. Researchers speculate that Moebius syndrome may result from changes in blood flow to the brainstem during early stages of embryonic development. However, it is unclear what causes these changes to occur and why they specifically disrupt the development of cranial nerves VI and VII. Even less is known about the causes of some other signs and symptoms of this condition, including hand and foot abnormalities.",GHR,Moebius syndrome +Is Moebius syndrome inherited ?,"Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance.",GHR,Moebius syndrome +What are the treatments for Moebius syndrome ?,These resources address the diagnosis or management of Moebius syndrome: - Boston Children's Hospital - Cleveland Clinic - Genetic Testing Registry: Oromandibular-limb hypogenesis spectrum - Swedish Information Centre for Rare Diseases: Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Moebius syndrome +What is (are) Laron syndrome ?,"Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. If the condition is not treated, adult males typically reach a maximum height of about 4.5 feet; adult females may be just over 4 feet tall. Other features of untreated Laron syndrome include reduced muscle strength and endurance, low blood sugar levels (hypoglycemia) in infancy, small genitals and delayed puberty, hair that is thin and fragile, and dental abnormalities. Many affected individuals have a distinctive facial appearance, including a protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). Affected individuals have short limbs compared to the size of their torso, as well as small hands and feet. Adults with this condition tend to develop obesity. However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family. Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes. Affected individuals appear to develop these common diseases much less frequently than their unaffected relatives, despite having obesity (a risk factor for both cancer and type 2 diabetes). However, people with Laron syndrome do not seem to have an increased lifespan compared with their unaffected relatives.",GHR,Laron syndrome +How many people are affected by Laron syndrome ?,Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador.,GHR,Laron syndrome +What are the genetic changes related to Laron syndrome ?,"Laron syndrome is caused by mutations in the GHR gene. This gene provides instructions for making a protein called the growth hormone receptor. The receptor is present on the outer membrane of cells throughout the body, particularly liver cells. As its name suggests, the growth hormone receptor attaches (binds) to growth hormone; the two proteins fit together like a key in a lock. When growth hormone is bound to its receptor, it triggers signaling that stimulates the growth and division of cells. This signaling also leads to the production, primarily by liver cells, of another important growth-promoting hormone called insulin-like growth factor I (IGF-I). Growth hormone and IGF-I have a wide variety of effects on the growth and function of many parts of the body. For example, these hormones stimulate the growth and division of cells called chondrocytes, which play a critical role in producing new bone tissue. Growth hormone and IGF-I also influence metabolism, including how the body uses and stores carbohydrates, proteins, and fats from food. Mutations in the GHR gene impair the receptor's ability to bind to growth hormone or to trigger signaling within cells. As a result, even when growth hormone is available, cells are unable to respond by producing IGF-I and stimulating growth and division. The cells' inability to react to growth hormone, which is described as growth hormone insensitivity, disrupts the normal growth and function of many different tissues. Short stature results when growth hormone cannot adequately stimulate the growth of bones. Changes in metabolism caused by insensitivity to growth hormone and the resulting shortage of IGF-I cause many of the other features of the condition, including obesity. Researchers are working to determine how mutations in the GHR gene may protect people with Laron syndrome from developing cancer and type 2 diabetes. Studies suggest that insensitivity to growth hormone may help prevent the uncontrolled growth and division of cells that can lead to the development of cancerous tumors. Growth hormone insensitivity also appears to alter how the body responds to insulin, which is a hormone that regulates blood sugar levels. Resistance to the effects of insulin is a major risk factor for type 2 diabetes. People with Laron syndrome have the opposite situation, an increased sensitivity to insulin, which likely helps explain their reduced risk of this common disease.",GHR,Laron syndrome +Is Laron syndrome inherited ?,"Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Much less commonly, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition.",GHR,Laron syndrome +What are the treatments for Laron syndrome ?,These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated somatotropin defect These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Laron syndrome +What is (are) campomelic dysplasia ?,"Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term ""campomelic"" comes from the Greek words for ""bent limb."" Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries. Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia. Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.",GHR,campomelic dysplasia +How many people are affected by campomelic dysplasia ?,"The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people.",GHR,campomelic dysplasia +What are the genetic changes related to campomelic dysplasia ?,"Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs. Most cases of campomelic dysplasia are caused by mutations within the SOX9 gene. These mutations prevent the production of the SOX9 protein or result in a protein with impaired function. About 5 percent of cases are caused by chromosome abnormalities that occur near the SOX9 gene; these cases tend to be milder than those caused by mutations within the SOX9 gene. The chromosome abnormalities disrupt regions of DNA that normally regulate the activity of the SOX9 gene. All of these genetic changes prevent the SOX9 protein from properly controlling the genes essential for normal development of the skeleton, reproductive system, and other parts of the body. Abnormal development of these structures causes the signs and symptoms of campomelic dysplasia.",GHR,campomelic dysplasia +Is campomelic dysplasia inherited ?,"Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals inherit a chromosome abnormality from a parent who may or may not show mild signs and symptoms of campomelic dysplasia.",GHR,campomelic dysplasia +What are the treatments for campomelic dysplasia ?,These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Pierre-Robin Syndrome - The Hospital for Sick Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,campomelic dysplasia +What is (are) amyotrophic lateral sclerosis ?,"Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS. The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals. Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD. A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.",GHR,amyotrophic lateral sclerosis +How many people are affected by amyotrophic lateral sclerosis ?,"About 5,000 people in the United States are diagnosed with ALS each year. Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small percentage of cases have a known genetic cause. Among the Chamorro people of Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more frequent than ALS is in other populations. ALS-PDC has not been reported outside of these populations.",GHR,amyotrophic lateral sclerosis +What are the genetic changes related to amyotrophic lateral sclerosis ?,"Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each account for about 5 percent of cases. The other genes that have been associated with familial ALS each account for a small proportion of cases. It is estimated that 60 percent of individuals with familial ALS have an identified genetic mutation. The cause of the condition in the remaining individuals is unknown. The C9orf72, SOD1, TARDBP, and FUS genes are key to the normal functioning of motor neurons and other cells. It is unclear how mutations in these genes contribute to the death of motor neurons, but it is thought that motor neurons are more sensitive to disruptions in function because of their large size. Most motor neurons affected by ALS have a buildup of protein clumps (aggregates); however, it is unknown whether these aggregates are involved in causing ALS or are a byproduct of the dying cell. In some cases of familial ALS due to mutations in other genes, studies have identified the mechanisms that lead to ALS. Some gene mutations lead to a disruption in the development of axons, the specialized extensions of nerve cells (such as motor neurons) that transmit nerve impulses. The altered axons may impair transmission of impulses from nerves to muscles, leading to muscle weakness and atrophy. Other mutations lead to a slowing in the transport of materials needed for the proper function of axons in motor neurons, eventually causing the motor neurons to die. Additional gene mutations prevent the breakdown of toxic substances, leading to their buildup in nerve cells. The accumulation of toxic substances can damage motor neurons and eventually cause cell death. In some cases of ALS, it is unknown how the gene mutation causes the condition. The cause of sporadic ALS is largely unknown but probably involves a combination of genetic and environmental factors. Variations in many genes, including the previously mentioned genes involved in transmission of nerve impulses and transportation of materials within neurons, increase the risk of developing ALS. Gene mutations that are risk factors for ALS may add, delete, or change DNA building blocks (nucleotides), resulting in the production of a protein with an altered or reduced function. While genetic variations have been associated with sporadic ALS, not all genetic factors have been identified and it is unclear how most genetic changes influence the development of the disease. People with a gene variation that increases their risk of ALS likely require additional genetic and environmental triggers to develop the disorder.",GHR,amyotrophic lateral sclerosis +Is amyotrophic lateral sclerosis inherited ?,"About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Some people who inherit a familial genetic mutation known to cause ALS never develop features of the condition. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. Less frequently, ALS is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Because an affected person's parents are not affected, autosomal recessive ALS is often mistaken for sporadic ALS even though it is caused by a familial genetic mutation. Very rarely, ALS is inherited in an X-linked dominant pattern. X-linked conditions occur when the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males tend to develop the disease earlier and have a decreased life expectancy compared with females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,amyotrophic lateral sclerosis +What are the treatments for amyotrophic lateral sclerosis ?,These resources address the diagnosis or management of amyotrophic lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview - Gene Review: Gene Review: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia - Gene Review: Gene Review: TARDBP-Related Amyotrophic Lateral Sclerosis - Genetic Testing Registry: Amyotrophic lateral sclerosis - Genetic Testing Registry: Amyotrophic lateral sclerosis type 1 - Massachusetts General Hospital: How is ALS Diagnosed? - MedlinePlus Encyclopedia: Amyotrophic Lateral Sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,amyotrophic lateral sclerosis +What is (are) Wiskott-Aldrich syndrome ?,"Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma. Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.",GHR,Wiskott-Aldrich syndrome +How many people are affected by Wiskott-Aldrich syndrome ?,The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females.,GHR,Wiskott-Aldrich syndrome +What are the genetic changes related to Wiskott-Aldrich syndrome ?,"Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause Wiskott-Aldrich syndrome lead to a lack of any functional WASP. Loss of WASP signaling disrupts the function of the actin cytoskeleton in developing blood cells. White blood cells that lack WASP have a decreased ability to respond to their environment and form immune synapses. As a result, white blood cells are less able to respond to foreign invaders, causing many of the immune problems related to Wiskott-Aldrich syndrome. Similarly, a lack of functional WASP in platelets impairs their development, leading to reduced size and early cell death.",GHR,Wiskott-Aldrich syndrome +Is Wiskott-Aldrich syndrome inherited ?,"This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Wiskott-Aldrich syndrome +What are the treatments for Wiskott-Aldrich syndrome ?,These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor Program - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wiskott-Aldrich syndrome +What is (are) Vohwinkel syndrome ?,"Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.",GHR,Vohwinkel syndrome +How many people are affected by Vohwinkel syndrome ?,Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature.,GHR,Vohwinkel syndrome +What are the genetic changes related to Vohwinkel syndrome ?,"The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause Vohwinkel syndrome change single protein building blocks (amino acids) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses. The variant form of Vohwinkel syndrome, sometimes called loricrin keratoderma, is caused by mutations in the LOR gene. This gene provides instructions for making a protein called loricrin, which is involved in the formation and maintenance of the epidermis, particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope. Loricrin is a major component of the cornified envelope. Links between loricrin and other components of the envelopes hold the corneocytes together and help give the stratum corneum its strength. Mutations in the LOR gene change the structure of the loricrin protein; the altered protein is trapped inside the cell and cannot reach the cornified envelope. While other proteins can partially compensate for the missing loricrin, the envelope of some corneocytes is thinner than normal in affected individuals, resulting in ichthyosis and the other skin abnormalities associated with the variant form of Vohwinkel syndrome.",GHR,Vohwinkel syndrome +Is Vohwinkel syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Vohwinkel syndrome +What are the treatments for Vohwinkel syndrome ?,"These resources address the diagnosis or management of Vohwinkel syndrome: - Genetic Testing Registry: Mutilating keratoderma - Genetic Testing Registry: Vohwinkel syndrome, variant form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Vohwinkel syndrome +What is (are) adiposis dolorosa ?,"Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse. Other signs and symptoms that have been reported to occur with adiposis dolorosa include general weakness and tiredness (fatigue), depression, irritability, confusion, recurrent seizures (epilepsy), and a progressive decline in intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.",GHR,adiposis dolorosa +How many people are affected by adiposis dolorosa ?,"Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men.",GHR,adiposis dolorosa +What are the genetic changes related to adiposis dolorosa ?,"The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.",GHR,adiposis dolorosa +Is adiposis dolorosa inherited ?,"Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family. A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.",GHR,adiposis dolorosa +What are the treatments for adiposis dolorosa ?,These resources address the diagnosis or management of adiposis dolorosa: - Genetic Testing Registry: Lipomatosis dolorosa - Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,adiposis dolorosa +What is (are) lattice corneal dystrophy type II ?,"Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age. The earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy). The cornea is the clear, outer covering of the eye. It is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes. As lattice corneal dystrophy type II progresses, the nerves become involved, typically starting in a person's forties. It is thought that the amyloid deposits disrupt nerve function. Dysfunction of the nerves in the head and face (cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, and swallowing. Dysfunction of the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves) can cause loss of sensation and weakness in the limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing vibrations. The skin is also commonly affected in people with lattice corneal dystrophy type II, typically beginning in a person's forties. People with this condition may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks elasticity. The skin can also be dry and itchy. Because of loose skin and muscle paralysis in the face, individuals with lattice corneal dystrophy type II can have a facial expression that appears sad.",GHR,lattice corneal dystrophy type II +How many people are affected by lattice corneal dystrophy type II ?,"Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there.",GHR,lattice corneal dystrophy type II +What are the genetic changes related to lattice corneal dystrophy type II ?,"Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments clump together and form amyloid deposits, which lead to the signs and symptoms of lattice corneal dystrophy type II.",GHR,lattice corneal dystrophy type II +Is lattice corneal dystrophy type II inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms.",GHR,lattice corneal dystrophy type II +What are the treatments for lattice corneal dystrophy type II ?,These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lattice corneal dystrophy type II +What is (are) pyridoxine-dependent epilepsy ?,"Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.",GHR,pyridoxine-dependent epilepsy +How many people are affected by pyridoxine-dependent epilepsy ?,"Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 cases have been reported worldwide.",GHR,pyridoxine-dependent epilepsy +What are the genetic changes related to pyridoxine-dependent epilepsy ?,"Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.",GHR,pyridoxine-dependent epilepsy +Is pyridoxine-dependent epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pyridoxine-dependent epilepsy +What are the treatments for pyridoxine-dependent epilepsy ?,These resources address the diagnosis or management of pyridoxine-dependent epilepsy: - Gene Review: Gene Review: Pyridoxine-Dependent Epilepsy - Genetic Testing Registry: Pyridoxine-dependent epilepsy - MedlinePlus Encyclopedia: Generalized tonic-clonic seizure These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pyridoxine-dependent epilepsy +What is (are) familial hemiplegic migraine ?,"Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days. In some types of migraine, including familial hemiplegic migraine, a pattern of neurological symptoms called an aura precedes the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour. Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine. These episodes have included fever, seizures, prolonged weakness, coma, and, rarely, death. Although most people with familial hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. About 20 percent of people with this condition develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus.",GHR,familial hemiplegic migraine +How many people are affected by familial hemiplegic migraine ?,"The worldwide prevalence of familial hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine). Like other forms of migraine, familial hemiplegic migraine affects females more often than males.",GHR,familial hemiplegic migraine +What are the genetic changes related to familial hemiplegic migraine ?,"Mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been found to cause familial hemiplegic migraine. The first three genes provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The function of the protein produced from the PRRT2 gene is unknown, although studies suggest it interacts with a protein that helps control signaling between neurons. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Researchers believe that mutations in the CACNA1A, ATP1A2, and SCN1A genes can upset the balance of ions in neurons, which disrupts the normal release and uptake of certain neurotransmitters in the brain. Although the mechanism is unknown, researchers speculate that mutations in the PRRT2 gene, which reduce the amount of PRRT2 protein, also disrupt normal control of neurotransmitter release. The resulting changes in signaling between neurons lead people with familial hemiplegic migraine to develop these severe headaches. There is little evidence that mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as familial hemiplegic migraine, as well as the more common forms of migraine.",GHR,familial hemiplegic migraine +Is familial hemiplegic migraine inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, affected individuals have one affected parent. However, some people who inherit an altered gene never develop features of familial hemiplegic migraine. (This situation is known as reduced penetrance.) A related condition, sporadic hemiplegic migraine, has identical signs and symptoms but occurs in individuals with no history of the disorder in their family.",GHR,familial hemiplegic migraine +What are the treatments for familial hemiplegic migraine ?,These resources address the diagnosis or management of familial hemiplegic migraine: - Gene Review: Gene Review: Familial Hemiplegic Migraine - Genetic Testing Registry: Familial hemiplegic migraine - Genetic Testing Registry: Familial hemiplegic migraine type 1 - Genetic Testing Registry: Familial hemiplegic migraine type 2 - Genetic Testing Registry: Familial hemiplegic migraine type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial hemiplegic migraine +What is (are) Imerslund-Grsbeck syndrome ?,"Imerslund-Grsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Grsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Grsbeck syndrome appear to have normal kidney function. Imerslund-Grsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Grsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).",GHR,Imerslund-Grsbeck syndrome +How many people are affected by Imerslund-Grsbeck syndrome ?,"Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown.",GHR,Imerslund-Grsbeck syndrome +What are the genetic changes related to Imerslund-Grsbeck syndrome ?,"Mutations in the AMN or CUBN gene can cause Imerslund-Grsbeck syndrome. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin. Together, these proteins play a role in the uptake of vitamin B12 from food. Vitamin B12, which cannot be made in the body and can only be obtained from food, is essential for the formation of DNA and proteins, the production of cellular energy, and the breakdown of fats. This vitamin is involved in the formation of red blood cells and maintenance of the brain and spinal cord (central nervous system). The amnionless protein is embedded primarily in the membrane of kidney cells and cells that line the small intestine. Amnionless attaches (binds) to cubilin, anchoring cubilin to the cell membrane. Cubilin can interact with molecules and proteins passing through the intestine or kidneys. During digestion, vitamin B12 is released from food. As the vitamin passes through the small intestine, cubilin binds to it. Amnionless helps transfer the cubilin-vitamin B12 complex into the intestinal cell. From there, the vitamin is released into the blood and transported throughout the body. In the kidney, the amnionless and cubilin proteins are involved in the reabsorption of certain proteins that would otherwise be released in urine. Mutations in the AMN gene prevent cubilin from attaching to the cells in the small intestine and kidneys. Without cubilin function in the small intestine, vitamin B12 is not taken into the body. A shortage of this essential vitamin impairs the proper development of red blood cells, leading to megaloblastic anemia. Low levels of vitamin B12 can also affect the central nervous system, causing neurological problems. In addition, without cubilin function in the kidneys, proteins are not reabsorbed and are instead released in urine, leading to proteinuria. Like AMN gene mutations, some CUBN gene mutations impair cubilin's function in both the small intestine and the kidneys, leading to a shortage of vitamin B12 and proteinuria. Other CUBN gene mutations affect cubilin's function only in the small intestine, impairing uptake of vitamin B12 into the intestinal cells. Individuals with these mutations have a shortage of vitamin B12, which can lead to megaloblastic anemia and neurological problems, but not proteinuria.",GHR,Imerslund-Grsbeck syndrome +Is Imerslund-Grsbeck syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Imerslund-Grsbeck syndrome +What are the treatments for Imerslund-Grsbeck syndrome ?,These resources address the diagnosis or management of Imerslund-Grsbeck syndrome: - MedlinePlus Encyclopedia: Anemia - B12 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Imerslund-Grsbeck syndrome +What is (are) glutaric acidemia type I ?,"Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood. Some babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.",GHR,glutaric acidemia type I +How many people are affected by glutaric acidemia type I ?,"Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.",GHR,glutaric acidemia type I +What are the genetic changes related to glutaric acidemia type I ?,"Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. This enzyme deficiency allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress. The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine, and tryptophan can damage the brain, particularly the basal ganglia, causing the signs and symptoms of glutaric acidemia type I.",GHR,glutaric acidemia type I +Is glutaric acidemia type I inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glutaric acidemia type I +What are the treatments for glutaric acidemia type I ?,"These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glutaric acidemia type I +What is (are) X-linked juvenile retinoschisis ?,"X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.",GHR,X-linked juvenile retinoschisis +How many people are affected by X-linked juvenile retinoschisis ?,"The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide.",GHR,X-linked juvenile retinoschisis +What are the genetic changes related to X-linked juvenile retinoschisis ?,"Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in the organization of cells in the retina by attaching cells together (cell adhesion). RS1 gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina. As a result, tiny splits (schisis) or tears form in the retina. This damage often forms a ""spoke-wheel"" pattern in the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, affecting visual acuity, in the other half of cases the schisis occurs in the sides of the retina, resulting in impaired peripheral vision. Some individuals with X-linked juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.",GHR,X-linked juvenile retinoschisis +Is X-linked juvenile retinoschisis inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked juvenile retinoschisis +What are the treatments for X-linked juvenile retinoschisis ?,These resources address the diagnosis or management of X-linked juvenile retinoschisis: - Gene Review: Gene Review: X-Linked Juvenile Retinoschisis - Genetic Testing Registry: Juvenile retinoschisis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked juvenile retinoschisis +What is (are) spondyloepiphyseal dysplasia congenita ?,"Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth. People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a foot deformity called a clubfoot; and a broad, barrel-shaped chest. Abnormal development of the chest can cause problems with breathing. Arthritis and decreased joint mobility often develop early in life. People with spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.",GHR,spondyloepiphyseal dysplasia congenita +How many people are affected by spondyloepiphyseal dysplasia congenita ?,This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.,GHR,spondyloepiphyseal dysplasia congenita +What are the genetic changes related to spondyloepiphyseal dysplasia congenita ?,"Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.",GHR,spondyloepiphyseal dysplasia congenita +Is spondyloepiphyseal dysplasia congenita inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,spondyloepiphyseal dysplasia congenita +What are the treatments for spondyloepiphyseal dysplasia congenita ?,These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spondyloepiphyseal dysplasia congenita +What is (are) Donnai-Barrow syndrome ?,"Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline. Individuals with Donnai-Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). In addition, they often experience vision problems, including extreme nearsightedness (high myopia), detachment or deterioration of the light-sensitive tissue in the back of the eye (the retina), and progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma). In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. Affected individuals may also have other structural abnormalities of the brain. They generally have mild to moderate intellectual disability and developmental delay. People with Donnai-Barrow syndrome may also have a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a congenital diaphragmatic hernia. This potentially serious birth defect allows the stomach and intestines to move into the chest and possibly crowd the developing heart and lungs. An opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel may also occur in affected individuals. Occasionally people with Donnai-Barrow syndrome have abnormalities of the intestine, heart, or other organs.",GHR,Donnai-Barrow syndrome +How many people are affected by Donnai-Barrow syndrome ?,"Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world.",GHR,Donnai-Barrow syndrome +What are the genetic changes related to Donnai-Barrow syndrome ?,"Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. Megalin has many ligands involved in various body processes, including the absorption of vitamins A and D, immune functioning, stress response, and the transport of fats in the bloodstream. Megalin is embedded in the membrane of cells that line the surfaces and cavities of the body (epithelial cells). The receptor helps move its ligands from the cell surface into the cell (endocytosis). It is active in the development and function of many parts of the body, including the brain and spinal cord (central nervous system), eyes, ears, lungs, intestine, reproductive system, and the small tubes in the kidneys where urine is formed (renal tubules). LRP2 gene mutations that cause Donnai-Barrow syndrome are believed to result in the absence of functional megalin protein. The lack of functional megalin in the renal tubules causes megalin's various ligands to be excreted in the urine rather than being absorbed back into the bloodstream. The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. However, it is unclear how these abnormalities result in the specific signs and symptoms of the disorder. A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be caused by LRP2 mutations. FOAR syndrome is now considered to be the same disorder as Donnai-Barrow syndrome.",GHR,Donnai-Barrow syndrome +Is Donnai-Barrow syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD). UPD occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development.",GHR,Donnai-Barrow syndrome +What are the treatments for Donnai-Barrow syndrome ?,These resources address the diagnosis or management of Donnai-Barrow syndrome: - Gene Review: Gene Review: Donnai-Barrow Syndrome - Genetic Testing Registry: Donnai Barrow syndrome - MedlinePlus Encyclopedia: Diaphragmatic Hernia - MedlinePlus Encyclopedia: Hearing Loss - Infants - MedlinePlus Encyclopedia: Omphalocele - Nemours Foundation: Hearing Evaluation in Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Donnai-Barrow syndrome +What is (are) popliteal pterygium syndrome ?,"Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth. Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum). People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.",GHR,popliteal pterygium syndrome +How many people are affected by popliteal pterygium syndrome ?,"Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.",GHR,popliteal pterygium syndrome +What are the genetic changes related to popliteal pterygium syndrome ?,"Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals. Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor's effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.",GHR,popliteal pterygium syndrome +Is popliteal pterygium syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,popliteal pterygium syndrome +What are the treatments for popliteal pterygium syndrome ?,These resources address the diagnosis or management of popliteal pterygium syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Popliteal pterygium syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,popliteal pterygium syndrome +What is (are) pyruvate kinase deficiency ?,"Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder. In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.",GHR,pyruvate kinase deficiency +How many people are affected by pyruvate kinase deficiency ?,"Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of European descent. It is more common in the Old Order Amish population of Pennsylvania.",GHR,pyruvate kinase deficiency +What are the genetic changes related to pyruvate kinase deficiency ?,"Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce adenosine triphosphate (ATP), the cell's main energy source. PKLR gene mutations result in reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. The abnormal red blood cells are gathered up by the spleen and destroyed, causing hemolytic anemia and an enlarged spleen. A shortage of red blood cells to carry oxygen throughout the body leads to fatigue, pallor, and shortness of breath. Iron and a molecule called bilirubin are released when red blood cells are destroyed, resulting in an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice and increases the risk of developing gallstones. Pyruvate kinase deficiency may also occur as an effect of other blood diseases, such as leukemia. These cases are called secondary pyruvate kinase deficiency and are not inherited.",GHR,pyruvate kinase deficiency +Is pyruvate kinase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pyruvate kinase deficiency +What are the treatments for pyruvate kinase deficiency ?,These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pyruvate kinase deficiency +What is (are) alpha-1 antitrypsin deficiency ?,"Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, and rapid heartbeat upon standing. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs. About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Signs of cirrhosis include a swollen abdomen, swollen feet or legs, and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma. In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.",GHR,alpha-1 antitrypsin deficiency +How many people are affected by alpha-1 antitrypsin deficiency ?,"Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma.",GHR,alpha-1 antitrypsin deficiency +What are the genetic changes related to alpha-1 antitrypsin deficiency ?,"Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ. Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency.",GHR,alpha-1 antitrypsin deficiency +Is alpha-1 antitrypsin deficiency inherited ?,"This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait. The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. Most people in the general population have two copies of the M allele (MM) in each cell. Other versions of the SERPINA1 gene lead to reduced levels of alpha-1 antitrypsin. For example, the S allele produces moderately low levels of this protein, and the Z allele produces very little alpha-1 antitrypsin. Individuals with two copies of the Z allele (ZZ) in each cell are likely to have alpha-1 antitrypsin deficiency. Those with the SZ combination have an increased risk of developing lung diseases (such as emphysema), particularly if they smoke. Worldwide, it is estimated that 161 million people have one copy of the S or Z allele and one copy of the M allele in each cell (MS or MZ). Individuals with an MS (or SS) combination usually produce enough alpha-1 antitrypsin to protect the lungs. People with MZ alleles, however, have a slightly increased risk of impaired lung or liver function.",GHR,alpha-1 antitrypsin deficiency +What are the treatments for alpha-1 antitrypsin deficiency ?,These resources address the diagnosis or management of alpha-1 antitrypsin deficiency: - Alpha-1 Foundation: Testing for Alpha-1 - Cleveland Clinic Respiratory Institute - Gene Review: Gene Review: Alpha-1 Antitrypsin Deficiency - GeneFacts: Alpha-1 Antitrypsin Deficiency: Diagnosis - GeneFacts: Alpha-1 Antitrypsin Deficiency: Management - Genetic Testing Registry: Alpha-1-antitrypsin deficiency - MedlinePlus Encyclopedia: Alpha-1 antitrypsin deficiency - MedlinePlus Encyclopedia: Pulmonary function tests - MedlinePlus Encyclopedia: Wheezing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alpha-1 antitrypsin deficiency +What is (are) trichothiodystrophy ?,"Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood. Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.",GHR,trichothiodystrophy +How many people are affected by trichothiodystrophy ?,Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide.,GHR,trichothiodystrophy +What are the genetic changes related to trichothiodystrophy ?,"Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. This complex is involved in the repair of DNA damage, which can be caused by UV radiation from the sun. The TFIIH complex also plays an important role in gene transcription, which is the first step in protein production. Mutations in the ERCC2, ERCC3, or GTF2H5 genes reduce the amount of TFIIH complex within cells, which impairs both DNA repair and gene transcription. An inability to repair DNA damage probably underlies the sun sensitivity in affected individuals. Studies suggest that many of the other features of trichothiodystrophy may result from problems with the transcription of genes needed for normal development before and after birth. Mutations in at least one gene, MPLKIP, have been reported to cause a non-photosensitive form of trichothiodystrophy. Mutations in this gene account for fewer than 20 percent of all cases of non-photosensitive trichothiodystrophy. Little is known about the protein produced from the MPLKIP gene, although it does not appear to be involved in DNA repair. It is unclear how mutations in the MPLKIP gene lead to the varied features of trichothiodystrophy. In some cases, the genetic cause of trichothiodystrophy is unknown.",GHR,trichothiodystrophy +Is trichothiodystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,trichothiodystrophy +What are the treatments for trichothiodystrophy ?,"These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genetic Testing Registry: Trichothiodystrophy, nonphotosensitive 1 - The Merck Manual Home Edition for Patients and Caregivers: Photosensitivity Reactions - The Merck Manual for Healthcare Professionals: Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,trichothiodystrophy +What is (are) juvenile myoclonic epilepsy ?,"Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.",GHR,juvenile myoclonic epilepsy +How many people are affected by juvenile myoclonic epilepsy ?,"Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.",GHR,juvenile myoclonic epilepsy +What are the genetic changes related to juvenile myoclonic epilepsy ?,"The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified in people with this condition. Many people with juvenile myoclonic epilepsy do not have mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition. A mutation in the GABRA1 gene has been identified in several members of a large family with juvenile myoclonic epilepsy. The GABRA1 gene provides instructions for making one piece, the alpha-1 (1) subunit, of the GABAA receptor protein. The GABAA receptor acts as a channel that allows negatively charged chlorine atoms (chloride ions) to cross the cell membrane. After infancy, the influx of chloride ions creates an environment in the cell that inhibits signaling between nerve cells (neurons) and prevents the brain from being overloaded with too many signals. Mutations in the GABRA1 gene lead to an altered 1 subunit and a decrease in the number of GABAA receptors available. As a result, the signaling between neurons is not controlled, which can lead to overstimulation of neurons. Researchers believe that the overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures. Mutations in the EFHC1 gene have been associated with juvenile myoclonic epilepsy in a small number of people. The EFHC1 gene provides instructions for making a protein that also plays a role in neuron activity, although its function is not completely understood. The EFHC1 protein is attached to another protein that acts as a calcium channel. This protein allows positively charged calcium ions to cross the cell membrane. The movement of these ions is critical for normal signaling between neurons. The EFHC1 protein is thought to help regulate the balance of calcium ions inside the cell, although the mechanism is unclear. In addition, studies show that the EFHC1 protein may be involved in the self-destruction of cells. EFHC1 gene mutations reduce the function of the EFHC1 protein. Researchers suggest that this reduction causes an increase in the number of neurons and disrupts the calcium balance. Together, these effects may lead to overstimulation of neurons and trigger seizures.",GHR,juvenile myoclonic epilepsy +Is juvenile myoclonic epilepsy inherited ?,"The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance pattern of juvenile myoclonic epilepsy caused by mutations in the EFHC1 gene is not known. Although juvenile myoclonic epilepsy can run in families, many cases occur in people with no family history of the disorder.",GHR,juvenile myoclonic epilepsy +What are the treatments for juvenile myoclonic epilepsy ?,"These resources address the diagnosis or management of juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing Registry: Epilepsy, idiopathic generalized 9 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 5 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 9 - Genetic Testing Registry: Juvenile myoclonic epilepsy - Merck Manual Consumer Version: Seizure Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,juvenile myoclonic epilepsy +What is (are) corticosteroid-binding globulin deficiency ?,"Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family. Many people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected. Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.",GHR,corticosteroid-binding globulin deficiency +How many people are affected by corticosteroid-binding globulin deficiency ?,"The prevalence of corticosteroid-binding globulin deficiency is unknown, but it is thought to be a rare disorder. However, because some people with the disorder have mild or no symptoms, it is likely that corticosteroid-binding globulin deficiency is underdiagnosed.",GHR,corticosteroid-binding globulin deficiency +What are the genetic changes related to corticosteroid-binding globulin deficiency ?,"Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. This hormone has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol is bound to CBG, the hormone is turned off (inactive). Normally, around 80 to 90 percent of the body's cortisol is bound to CBG. When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it, causing cortisol to become active. In this manner, CBG regulates the amount of cortisol that is available for use in the body. The amount of total cortisol in the body consists of both bound (inactive) and unbound (active) cortisol. SERPINA6 gene mutations often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. With less functional CBG to bind cortisol, people with corticosteroid-binding globulin deficiency usually have increased unbound cortisol levels. Typically, the body decreases cortisol production to compensate, resulting in a reduction in total cortisol. It is unclear how a decrease in CBG protein and total cortisol leads to the signs and symptoms of corticosteroid-binding globulin deficiency. Since the CBG protein is needed to transport cortisol to specific tissues at certain times, it may be that while cortisol is available in the body, the cortisol is not getting to the tissues that require it. A decrease in cortisol may influence widening or narrowing of the blood vessels, contributing to abnormal blood pressure. Some researchers think the features of the disorder may influence each other and that fatigue could be a result of chronic pain rather than a symptom of the disorder itself. There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue.",GHR,corticosteroid-binding globulin deficiency +Is corticosteroid-binding globulin deficiency inherited ?,"This condition is reported to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some people with only one SERPINA6 gene mutation may have symptoms such as fatigue or chronic pain. Alternatively, individuals with two SERPINA6 gene mutations may not have any features of the disorder. It is unclear why some people with mutations have features of the disorder and others do not.",GHR,corticosteroid-binding globulin deficiency +What are the treatments for corticosteroid-binding globulin deficiency ?,These resources address the diagnosis or management of corticosteroid-binding globulin deficiency: - American Heart Association: Understanding Blood Pressure Readings - Genetic Testing Registry: Corticosteroid-binding globulin deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,corticosteroid-binding globulin deficiency +What is (are) Nijmegen breakage syndrome ?,"Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. People with this condition typically grow slowly during infancy and early childhood. After this period of slow growth, affected individuals grow at a normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of affected individuals. The head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with Nijmegen breakage syndrome have distinctive facial features that include a sloping forehead, a prominent nose, large ears, a small jaw, and outside corners of the eyes that point upward (upslanting palpebral fissures). These facial features typically become apparent by age 3. People with Nijmegen breakage syndrome have a malfunctioning immune system (immunodeficiency) with abnormally low levels of immune system proteins called immunoglobulin G (IgG) and immunoglobulin A (IgA). Affected individuals also have a shortage of immune system cells called T cells. The immune system abnormalities increase susceptibility to recurrent infections, such as bronchitis, pneumonia, sinusitis, and other infections affecting the upper respiratory tract and lungs. Individuals with Nijmegen breakage syndrome have an increased risk of developing cancer, most commonly a cancer of immune system cells called non-Hodgkin lymphoma. About half of individuals with Nijmegen breakage syndrome develop non-Hodgkin lymphoma, usually before age 15. Other cancers seen in people with Nijmegen breakage syndrome include brain tumors such as medulloblastoma and glioma, and a cancer of muscle tissue called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 times more likely to develop cancer than people without this condition. Intellectual development is normal in most people with this condition for the first year or two of life, but then development becomes delayed. Skills decline over time, and most affected children and adults have mild to moderate intellectual disability. Most affected woman have premature ovarian failure and do not begin menstruation by age 16 (primary amenorrhea) or have infrequent menstrual periods. Most women with Nijmegen breakage syndrome are unable to have biological children (infertile).",GHR,Nijmegen breakage syndrome +How many people are affected by Nijmegen breakage syndrome ?,"The exact prevalence of Nijmegen breakage syndrome is unknown. This condition is estimated to affect one in 100,000 newborns worldwide, but is thought to be most common in the Slavic populations of Eastern Europe.",GHR,Nijmegen breakage syndrome +What are the genetic changes related to Nijmegen breakage syndrome ?,"Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. This protein complex works to mend broken strands of DNA. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that can cause them to die or to divide uncontrollably. The nibrin protein and the proteins with which it interacts help maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division. The NBN gene mutations that cause this condition typically lead to the production of an abnormally short version of the nibrin protein. The defective protein is missing important regions, preventing it from responding to DNA damage effectively. As a result, affected individuals are sensitive to the effects of radiation exposure and other agents that can cause breaks in DNA. Nijmegen breakage syndrome gets its name from numerous breaks in DNA that occur in affected people's cells. A buildup of mistakes in DNA can trigger cells to grow and divide abnormally, increasing the risk of cancer in people with Nijmegen breakage syndrome. Nibrin's role in regulating cell division and cell growth (proliferation) is thought to lead to the immunodeficiency seen in affected individuals. A lack of functional nibrin results in less immune cell proliferation. A decrease in the amount of immune cells that are produced leads to reduced amounts of immunoglobulins and other features of immunodeficiency. It is unclear how mutations in the NBN gene cause the other features of Nijmegen breakage syndrome.",GHR,Nijmegen breakage syndrome +Is Nijmegen breakage syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Nijmegen breakage syndrome +What are the treatments for Nijmegen breakage syndrome ?,"These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, normal intelligence and immunodeficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Nijmegen breakage syndrome +What is (are) Gorlin syndrome ?,"Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement. Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility). Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.",GHR,Gorlin syndrome +How many people are affected by Gorlin syndrome ?,"Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome.",GHR,Gorlin syndrome +What are the genetic changes related to Gorlin syndrome ?,"Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. Patched-1 blocks cell growth and division (proliferation) until Sonic Hedgehog is attached. The PTCH1 gene is a tumor suppressor gene, which means it stops cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome. It is less clear how PTCH1 gene mutations cause the other signs and symptoms related to this condition. The characteristic features of Gorlin syndrome can also be associated with a chromosomal change called a 9q22.3 microdeletion, in which a small piece of chromosome 9 is deleted in each cell. This deletion includes the segment of chromosome 9 that contains the PTCH1 gene, and as a result, people with a 9q22.3 microdeletion are missing one copy of this gene. Loss of this gene underlies the signs and symptoms of Gorlin syndrome in people with 9q22.3 microdeletions. Affected individuals also have features that are not typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical abnormalities. Researchers believe that these other signs and symptoms may result from the loss of additional genes in the deleted region of chromosome 9.",GHR,Gorlin syndrome +Is Gorlin syndrome inherited ?,"Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the PTCH1 gene and occur in people with no history of the disorder in their family. Having one mutated copy of the PTCH1 gene in each cell is enough to cause the features of Gorlin syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and other tumors to develop, a mutation in the second copy of the PTCH1 gene must also occur in certain cells during the person's lifetime. Most people who are born with one PTCH1 gene mutation eventually acquire a second mutation in some cells and consequently develop various types of tumors.",GHR,Gorlin syndrome +What are the treatments for Gorlin syndrome ?,These resources address the diagnosis or management of Gorlin syndrome: - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Gorlin syndrome +What is (are) PDGFRA-associated chronic eosinophilic leukemia ?,"PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia. Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood. Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma. PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.",GHR,PDGFRA-associated chronic eosinophilic leukemia +How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ?,"PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown.",GHR,PDGFRA-associated chronic eosinophilic leukemia +What are the genetic changes related to PDGFRA-associated chronic eosinophilic leukemia ?,"PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. Genetic rearrangements and point mutations affecting the PDGFRA gene are somatic mutations, which are mutations acquired during a person's lifetime that are present only in certain cells. The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population). The most common genetic abnormality in PDGFRA-associated chronic eosinophilic leukemia results from a deletion of genetic material from chromosome 4, which brings together part of the PDGFRA gene and part of the FIP1L1 gene, creating the FIP1L1-PDGFRA fusion gene. The FIP1L1 gene provides instructions for a protein that plays a role in forming the genetic blueprints for making proteins (messenger RNA or mRNA). The PDGFRA gene provides instructions for making a receptor protein that is found in the cell membrane of certain cell types. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and cell survival. The FIP1L1-PDGFRA fusion gene (as well as other PDGFRA fusion genes) provides instructions for making a fusion protein that has the function of the normal PDGFRA protein. However, the fusion protein does not require ligand binding to be activated. Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. As a result, the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in blood cell precursors, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRA-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.",GHR,PDGFRA-associated chronic eosinophilic leukemia +Is PDGFRA-associated chronic eosinophilic leukemia inherited ?,"PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. Somatic mutations are not inherited. Males are more likely to develop PDGFRA-associated chronic eosinophilic leukemia than females because, for unknown reasons, PDGFRA fusion genes are found more often in males.",GHR,PDGFRA-associated chronic eosinophilic leukemia +What are the treatments for PDGFRA-associated chronic eosinophilic leukemia ?,These resources address the diagnosis or management of PDGFRA-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia - Eosinophilic: Treatment - Genetic Testing Registry: Idiopathic hypereosinophilic syndrome - MedlinePlus Encyclopedia: Eosinophil Count - Absolute - Seattle Cancer Care Alliance: Hypereosinophilia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,PDGFRA-associated chronic eosinophilic leukemia +What is (are) mitochondrial complex III deficiency ?,"Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. The severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. Most people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood sugar levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening. Mitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.",GHR,mitochondrial complex III deficiency +How many people are affected by mitochondrial complex III deficiency ?,"The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare.",GHR,mitochondrial complex III deficiency +What are the genetic changes related to mitochondrial complex III deficiency ?,"Mitochondrial complex III deficiency can be caused by mutations in one of several genes. The proteins produced from these genes either are a part of or help assemble a group of proteins called complex III. The two most commonly mutated genes involved in mitochondrial complex III deficiency are MT-CYB and BCS1L. It is likely that genes that have not been identified are also involved in this condition. Cytochrome b, produced from the MT-CYB gene, is one component of complex III, and the protein produced from the BCS1L gene is critical for the formation of the complex. Complex III is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex III is one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues. MT-CYB and BCS1L gene mutations impair the formation of complex III molecules. As a result, complex III activity and oxidative phosphorylation are reduced. Researchers believe that impaired oxidative phosphorylation can lead to cell death by reducing the amount of energy available in the cell. It is thought that tissues and organs that require a lot of energy, such as the brain, liver, kidneys, and skeletal muscles, are most affected by a reduction in oxidative phosphorylation. In addition, for unknown reasons, BCS1L gene mutations lead to increased overall production of reactive oxygen species, although production by complex III is reduced. Damage from reduced energy and from reactive oxygen species likely contributes to the signs and symptoms of mitochondrial complex III deficiency. Unlike most genes, the MT-CYB gene is found in DNA located in mitochondria, called mitochondrial DNA (mtDNA). This location may help explain why some people have more severe features of the condition than others. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mtDNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). When caused by MT-CYB gene mutations, the severity of mitochondrial complex III deficiency is thought to be associated with the percentage of mitochondria with the gene mutation. The other genes known to be involved in this condition are found in DNA packaged in chromosomes within the cell nucleus (nuclear DNA). It is not clear why the severity of the condition varies in people with mutations in these other genes.",GHR,mitochondrial complex III deficiency +Is mitochondrial complex III deficiency inherited ?,"Mitochondrial complex III deficiency is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases caused by mutations in the MT-CYB gene, the condition is not inherited; it is caused by new mutations in the gene that occur in people with no history of the condition in their family. Other cases caused by mutations in the MT-CYB gene are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.",GHR,mitochondrial complex III deficiency +What are the treatments for mitochondrial complex III deficiency ?,"These resources address the diagnosis or management of mitochondrial complex III deficiency: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 - Genetic Testing Registry: Mitochondrial complex III deficiency - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 2 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 3 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 4 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,mitochondrial complex III deficiency +What is (are) primary myelofibrosis ?,"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.",GHR,primary myelofibrosis +How many people are affected by primary myelofibrosis ?,"Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide.",GHR,primary myelofibrosis +What are the genetic changes related to primary myelofibrosis ?,"Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown. The proteins produced from the JAK2 and MPL genes are both part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The protein produced from the MPL gene, called thrombopoietin receptor, turns on (activates) the pathway, and the JAK2 protein transmits signals after activation. Through the JAK/STAT pathway, these two proteins promote the proliferation of blood cells, particularly a type of blood cell known as a megakaryocyte. Mutations in either the JAK2 gene or the MPL gene that are associated with primary myelofibrosis lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of abnormal megakaryocytes, and these megakaryocytes stimulate another type of cell to release collagen. Collagen is a protein that normally provides structural support for the cells in the bone marrow. However, in primary myelofibrosis, the excess collagen forms scar tissue in the bone marrow. Although mutations in the CALR gene and the TET2 gene are relatively common in primary myelofibrosis, it is unclear how these mutations are involved in the development of the condition. Some people with primary myelofibrosis do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition.",GHR,primary myelofibrosis +Is primary myelofibrosis inherited ?,This condition is generally not inherited but arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations.,GHR,primary myelofibrosis +What are the treatments for primary myelofibrosis ?,These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,primary myelofibrosis +What is (are) Freeman-Sheldon syndrome ?,"Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a ""whistling face."" For this reason, the condition is sometimes called ""whistling face syndrome."" People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an ""H"" or ""V"". Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus). Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening. Speech problems are also common in this disorder. Some affected individuals have hearing loss. Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis). These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called ""windmill vane hand""), and inward- and downward-turning feet (clubfoot). Affected individuals may also have a spine that curves to the side (scoliosis). People with Freeman-Sheldon syndrome also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain. A particular type of muscle relaxant may also trigger the reaction. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but approximately one-third have some degree of intellectual disability.",GHR,Freeman-Sheldon syndrome +How many people are affected by Freeman-Sheldon syndrome ?,Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown.,GHR,Freeman-Sheldon syndrome +What are the genetic changes related to Freeman-Sheldon syndrome ?,"Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and between cells. Myosin and another protein called actin are the primary components of muscle fibers and are important for the tensing of muscles (muscle contraction). Embryonic skeletal muscle myosin heavy chain 3 forms part of a myosin protein complex that is active before birth and is important for normal development of the muscles. MYH3 gene mutations that cause Freeman-Sheldon syndrome likely disrupt the function of the embryonic skeletal muscle myosin heavy chain 3 protein, reducing the ability of fetal muscle cells to contract. This impairment of muscle contraction may interfere with muscle development in the fetus, resulting in the contractures and other muscle and skeletal abnormalities associated with Freeman-Sheldon syndrome. It is unclear how MYH3 gene mutations may cause other features of this disorder. Some people with Freeman-Sheldon syndrome do not have mutations in the MYH3 gene. In these individuals, the cause of the disorder is unknown.",GHR,Freeman-Sheldon syndrome +Is Freeman-Sheldon syndrome inherited ?,"Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition can also have an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, the inheritance pattern is unknown.",GHR,Freeman-Sheldon syndrome +What are the treatments for Freeman-Sheldon syndrome ?,These resources address the diagnosis or management of Freeman-Sheldon syndrome: - Genetic Testing Registry: Freeman-Sheldon syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Freeman-Sheldon syndrome +What is (are) Opitz G/BBB syndrome ?,"Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. ""G/BBB"" represents the first letters of the last names of the families first diagnosed with this disorder and ""Opitz"" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same. Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular hypertelorism). Affected individuals commonly have defects of the voice box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening breathing problems. A common defect is a gap between the trachea and esophagus (laryngeal cleft) that allows food or fluids to enter the airway. The cleft can vary in size, and infants may struggle to breathe when feeding. Most males with Opitz G/BBB syndrome have genital abnormalities such as the urethra opening on the underside of the penis (hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract. Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. Some people with Opitz G/BBB syndrome have features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. About half of affected individuals also have an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Some have cleft palate without cleft lip. Less common features of Opitz G/BBB syndrome, affecting less than half of people with this disorder, include minor heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as a small or absent connection between the left and right halves of the brain (corpus callosum). Distinct facial features that may be seen in this disorder include a prominent forehead, widow's peak hairline, flat nasal bridge, thin upper lip, and low-set ears. These features vary among affected individuals, even within the same family.",GHR,Opitz G/BBB syndrome +How many people are affected by Opitz G/BBB syndrome ?,"X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed. The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in 4,000 people.",GHR,Opitz G/BBB syndrome +What are the genetic changes related to Opitz G/BBB syndrome ?,"X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). Midline-1 assists in recycling certain proteins that need to be reused instead of broken down. MID1 gene mutations lead to a decrease in midline-1 function, which prevents protein recycling. The resulting accumulation of proteins impairs microtubule function, leading to problems with cell division and migration. It is unclear how these changes disrupt normal development and cause the signs and symptoms of Opitz G/BBB syndrome. Autosomal dominant Opitz G/BBB syndrome is caused by changes in chromosome 22. Some affected individuals have a deletion of a small piece of chromosome 22, specifically at an area of the chromosome designated 22q11.2. Because this same region is deleted in another condition called 22q11.2 deletion syndrome, researchers often consider Opitz/GBBB syndrome caused by this genetic change to be a form of 22q11.2 deletion syndrome. It is not known which of the deleted genes contribute to the signs and symptoms of Opitz G/BBB syndrome. In other people, autosomal dominant Opitz/GBBB syndrome is caused by a mutation in the SPECC1L gene, which is near the 22q11.2 region but is not in the area that is typically deleted in other individuals with autosomal dominant Opitz G/BBB syndrome or 22q11.2 deletion syndrome. The SPECC1L gene provides instructions for making a protein called cytospin-A. This protein interacts with components of the cytoskeleton and stabilizes microtubules, which is necessary for these fibers to regulate various cell processes including the movement of cells to their proper location (cell migration). Cytospin-A is particularly involved in the migration of cells that will form the facial features. Mutations in the SPECC1L gene result in the production of a protein with a decreased ability to interact with components of the cytoskeleton. As a result, microtubules are disorganized and cells have trouble migrating to their proper location. Because the SPECC1L gene plays a role in facial development, mutations in this gene likely account for the cleft lip and palate seen in some individuals with Opitz G/BBB syndrome, but it is unclear how SPECC1L gene mutations cause the other features of this disorder. Some people with Opitz G/BBB syndrome do not have any of the genetic changes described above. The cause of the condition in these individuals is unknown.",GHR,Opitz G/BBB syndrome +Is Opitz G/BBB syndrome inherited ?,"When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no symptoms at all. Because it is unlikely that females will have two altered copies of the MID1 gene, females with X-linked Opitz G/BBB syndrome typically have hypertelorism as the only sign of the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, Opitz G/BBB syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases are caused by a mutation in the SPECC1L gene or by a deletion of genetic material from one copy of chromosome 22 in each cell. Males and females with autosomal dominant Opitz G/BBB syndrome usually have the same severity of symptoms. In both types of Opitz G/BBB syndrome, some affected people inherit the genetic change from an affected parent. Other cases may result from new mutations. These cases occur in people with no history of the disorder in their family.",GHR,Opitz G/BBB syndrome +What are the treatments for Opitz G/BBB syndrome ?,These resources address the diagnosis or management of Opitz G/BBB syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Gene Review: Gene Review: X-Linked Opitz G/BBB Syndrome - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Opitz-Frias syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Opitz G/BBB syndrome +What is (are) alpha thalassemia X-linked intellectual disability syndrome ?,"Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently. Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down ""V,"" and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose. Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).",GHR,alpha thalassemia X-linked intellectual disability syndrome +How many people are affected by alpha thalassemia X-linked intellectual disability syndrome ?,"Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.",GHR,alpha thalassemia X-linked intellectual disability syndrome +What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome ?,"Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. Among these genes are HBA1 and HBA2, which are necessary for normal hemoglobin production. Mutations in the ATRX gene change the structure of the ATRX protein, which likely prevents it from effectively regulating gene expression. Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. Abnormal expression of other genes, which have not been identified, probably causes developmental delay, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome.",GHR,alpha thalassemia X-linked intellectual disability syndrome +Is alpha thalassemia X-linked intellectual disability syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one working copy of the ATRX gene can usually compensate for the mutated copy. Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked intellectual disability syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,alpha thalassemia X-linked intellectual disability syndrome +What are the treatments for alpha thalassemia X-linked intellectual disability syndrome ?,These resources address the diagnosis or management of alpha thalassemia X-linked intellectual disability syndrome: - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - Genetic Testing Registry: ATR-X syndrome - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alpha thalassemia X-linked intellectual disability syndrome +What is (are) nephrogenic diabetes insipidus ?,"Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life. Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail to gain weight and grow at the expected rate (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, over time it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan. Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although nephrogenic diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.",GHR,nephrogenic diabetes insipidus +How many people are affected by nephrogenic diabetes insipidus ?,"The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form.",GHR,nephrogenic diabetes insipidus +What are the genetic changes related to nephrogenic diabetes insipidus ?,"The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. Both of these genes provide instructions for making proteins that help determine how much water is excreted in urine. The acquired form of nephrogenic diabetes insipidus can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. The kidneys filter the blood to remove waste and excess fluid, which are stored in the bladder as urine. The balance between fluid intake and urine excretion is controlled by a hormone called vasopressin or antidiuretic hormone (ADH). ADH directs the kidneys to concentrate urine by reabsorbing some of the water into the bloodstream. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), increased levels of ADH in the blood tell the kidneys to make less urine. When fluid intake is adequate, lower levels of ADH tell the kidneys to make more urine. Mutations in the AVPR2 or AQP2 genes prevent the kidneys from responding to signals from ADH. Chronic kidney disease, certain drugs, and other factors can also impair the kidneys' ability to respond to this hormone. As a result, the kidneys do not reabsorb water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of nephrogenic diabetes insipidus.",GHR,nephrogenic diabetes insipidus +Is nephrogenic diabetes insipidus inherited ?,"When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder.",GHR,nephrogenic diabetes insipidus +What are the treatments for nephrogenic diabetes insipidus ?,"These resources address the diagnosis or management of nephrogenic diabetes insipidus: - Gene Review: Gene Review: Nephrogenic Diabetes Insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus, X-linked - Genetic Testing Registry: Nephrogenic diabetes insipidus, autosomal - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Nephrogenic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,nephrogenic diabetes insipidus +What is (are) 1p36 deletion syndrome ?,"1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped. People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.",GHR,1p36 deletion syndrome +How many people are affected by 1p36 deletion syndrome ?,"1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.",GHR,1p36 deletion syndrome +What are the genetic changes related to 1p36 deletion syndrome ?,1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.,GHR,1p36 deletion syndrome +Is 1p36 deletion syndrome inherited ?,"Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder.",GHR,1p36 deletion syndrome +What are the treatments for 1p36 deletion syndrome ?,These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,1p36 deletion syndrome +What is (are) mevalonate kinase deficiency ?,"Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.",GHR,mevalonate kinase deficiency +How many people are affected by mevalonate kinase deficiency ?,More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS.,GHR,mevalonate kinase deficiency +What are the genetic changes related to mevalonate kinase deficiency ?,"Mutations in the MVK gene cause mevalonate kinase deficiency. The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol, which is later converted into steroid hormones and bile acids. Steroid hormones are needed for normal development and reproduction, and bile acids are used to digest fats. Mevalonate kinase also helps to produce other substances that are necessary for certain cellular functions, such as cell growth, cell maturation (differentiation), formation of the cell's structural framework (the cytoskeleton), gene activity (expression), and protein production and modification. Most MVK gene mutations that cause mevalonate kinase deficiency result in an enzyme that is unstable and folded into an incorrect 3-dimensional shape, leading to a reduction of mevalonate kinase enzyme activity. Despite this shortage (deficiency) of mevalonate kinase activity, people with mevalonate kinase deficiency typically have normal production of cholesterol, steroid hormones, and bile acids. It is unclear how a lack of mevalonate kinase activity causes the signs and symptoms of this condition. Some researchers believe the features may be due to a buildup of mevalonic acid, the substance that mevalonate kinase normally acts on. Other researchers think that a shortage of the substances produced from mevalonic acid, such as those substances necessary for certain cellular functions, causes the fever episodes and other features of this condition. The severity of the enzyme deficiency determines the severity of the condition. People who have approximately 1 to 20 percent of normal mevalonate kinase activity typically develop HIDS. Individuals who have less than 1 percent of normal enzyme activity usually develop MVA.",GHR,mevalonate kinase deficiency +Is mevalonate kinase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mevalonate kinase deficiency +What are the treatments for mevalonate kinase deficiency ?,These resources address the diagnosis or management of mevalonate kinase deficiency: - Genetic Testing Registry: Hyperimmunoglobulin D with periodic fever - Genetic Testing Registry: Mevalonic aciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mevalonate kinase deficiency +What is (are) cystinuria ?,"Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine. As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.",GHR,cystinuria +How many people are affected by cystinuria ?,"Cystinuria affects approximately 1 in 10,000 people.",GHR,cystinuria +What are the genetic changes related to cystinuria ?,"Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the protein complex to reabsorb amino acids, which causes the amino acids to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the protein complex do not create crystals when they accumulate in the urine.",GHR,cystinuria +Is cystinuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cystinuria +What are the treatments for cystinuria ?,These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cystinuria +What is (are) myostatin-related muscle hypertrophy ?,"Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.",GHR,myostatin-related muscle hypertrophy +How many people are affected by myostatin-related muscle hypertrophy ?,The prevalence of this condition is unknown.,GHR,myostatin-related muscle hypertrophy +What are the genetic changes related to myostatin-related muscle hypertrophy ?,"Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue.",GHR,myostatin-related muscle hypertrophy +Is myostatin-related muscle hypertrophy inherited ?,"Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree.",GHR,myostatin-related muscle hypertrophy +What are the treatments for myostatin-related muscle hypertrophy ?,These resources address the diagnosis or management of myostatin-related muscle hypertrophy: - Gene Review: Gene Review: Myostatin-Related Muscle Hypertrophy - Genetic Testing Registry: Myostatin-related muscle hypertrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myostatin-related muscle hypertrophy +What is (are) small fiber neuropathy ?,"Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood. Individuals with small fiber neuropathy cannot feel pain that is concentrated in a very small area, such as the prick of a pin. However, they have an increased sensitivity to pain in general (hyperalgesia) and experience pain from stimulation that typically does not cause pain (hypoesthesia). People affected with this condition may also have a reduced ability to differentiate between hot and cold. However, in some individuals, the pain attacks are provoked by cold or warm triggers. Some affected individuals have urinary or bowel problems, episodes of rapid heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. Small fiber neuropathy is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.",GHR,small fiber neuropathy +How many people are affected by small fiber neuropathy ?,The prevalence of small fiber neuropathy is unknown.,GHR,small fiber neuropathy +What are the genetic changes related to small fiber neuropathy ?,"Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit for the NaV1.8 sodium channel. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. The NaV1.7 and NaV1.8 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The SCN9A gene mutations that cause small fiber neuropathy result in NaV1.7 sodium channels that do not close completely when the channel is turned off. Many SCN10A gene mutations result in NaV1.8 sodium channels that open more easily than usual. The altered channels allow sodium ions to flow abnormally into nociceptors. This increase in sodium ions enhances transmission of pain signals, causing individuals to be more sensitive to stimulation that might otherwise not cause pain. In this condition, the small fibers that extend from the nociceptors through which pain signals are transmitted (axons) degenerate over time. The cause of this degeneration is unknown, but it likely accounts for signs and symptoms such as the loss of temperature differentiation and pinprick sensation. The combination of increased pain signaling and degeneration of pain-transmitting fibers leads to a variable condition with signs and symptoms that can change over time. SCN9A gene mutations have been found in approximately 30 percent of individuals with small fiber neuropathy; SCN10A gene mutations are responsible for about 5 percent of cases. In some instances, other health conditions cause this disorder. Diabetes mellitus and impaired glucose tolerance are the most common diseases that lead to this disorder, with 6 to 50 percent of diabetics or pre-diabetics developing small fiber neuropathy. Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection.",GHR,small fiber neuropathy +Is small fiber neuropathy inherited ?,"Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one copy of the altered SCN9A gene or SCN10A gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When the genetic cause of small fiber neuropathy is unknown or when the condition is caused by another disorder, the inheritance pattern is unclear.",GHR,small fiber neuropathy +What are the treatments for small fiber neuropathy ?,These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,small fiber neuropathy +What is (are) Lynch syndrome ?,"Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.",GHR,Lynch syndrome +How many people are affected by Lynch syndrome ?,"In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome.",GHR,Lynch syndrome +What are the genetic changes related to Lynch syndrome ?,"Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Mutations in the EPCAM gene also lead to impaired DNA repair, although the gene is not itself involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2; certain EPCAM gene mutations cause the MSH2 gene to be turned off (inactivated), interrupting DNA repair and leading to accumulated DNA mistakes. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.",GHR,Lynch syndrome +Is Lynch syndrome inherited ?,"Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.",GHR,Lynch syndrome +What are the treatments for Lynch syndrome ?,These resources address the diagnosis or management of Lynch syndrome: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: Lynch Syndrome - GeneFacts: Lynch Syndrome: Management - Genetic Testing Registry: Hereditary nonpolyposis colorectal cancer type 3 - Genetic Testing Registry: Hereditary nonpolyposis colorectal cancer type 4 - Genetic Testing Registry: Hereditary nonpolyposis colorectal cancer type 5 - Genetic Testing Registry: Hereditary nonpolyposis colorectal cancer type 8 - Genetic Testing Registry: Lynch syndrome - Genetic Testing Registry: Lynch syndrome I - Genetic Testing Registry: Lynch syndrome II - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Colon Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Lynch syndrome +What is (are) MECP2 duplication syndrome ?,"MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.",GHR,MECP2 duplication syndrome +How many people are affected by MECP2 duplication syndrome ?,The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.,GHR,MECP2 duplication syndrome +What are the genetic changes related to MECP2 duplication syndrome ?,"MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building blocks (base pairs), also written as 100 to 900 kilobases (kb). The MECP2 gene is always included in this duplication, and other genes may be involved, depending on the size of the duplicated segment. Extra copies of these other genes do not seem to affect the severity of the condition, because people with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein, which is unable to properly regulate the expression of other genes. The misregulation of gene expression in the brain results in abnormal nerve cell (neuronal) function. These neuronal abnormalities cause irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.",GHR,MECP2 duplication syndrome +Is MECP2 duplication syndrome inherited ?,"MECP2 duplication syndrome is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a duplication of the only copy of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Females usually do not have signs and symptoms of MECP2 duplication syndrome because the X chromosome that contains the duplication may be turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Research shows that females with an MECP2 gene duplication have skewed X-inactivation, which results in the inactivation of the X chromosome containing the duplication in most cells of the body. This skewed X inactivation ensures that only the chromosome with the normal MECP2 gene is expressed. This skewed X-inactivation is why females with an MECP2 gene duplication typically do not have any features related to the additional genetic material.",GHR,MECP2 duplication syndrome +What are the treatments for MECP2 duplication syndrome ?,These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,MECP2 duplication syndrome +What is (are) aromatase excess syndrome ?,"Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.",GHR,aromatase excess syndrome +How many people are affected by aromatase excess syndrome ?,The prevalence of aromatase excess syndrome is unknown; more than 20 cases have been described in the medical literature.,GHR,aromatase excess syndrome +What are the genetic changes related to aromatase excess syndrome ?,"Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth. The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.",GHR,aromatase excess syndrome +Is aromatase excess syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new genetic changes and occur in people with no history of the disorder in their family.",GHR,aromatase excess syndrome +What are the treatments for aromatase excess syndrome ?,"These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,aromatase excess syndrome +What is (are) hereditary fructose intolerance ?,"Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive). Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose. Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.",GHR,hereditary fructose intolerance +How many people are affected by hereditary fructose intolerance ?,"The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide.",GHR,hereditary fructose intolerance +What are the genetic changes related to hereditary fructose intolerance ?,"Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second step in the metabolism of fructose, which breaks down the molecule fructose-1-phosphate into other molecules called glyceraldehyde and dihydroxyacetone phosphate. ALDOB gene mutations reduce the function of the enzyme, impairing its ability to metabolize fructose. A lack of functional aldolase B results in an accumulation of fructose-1-phosphate in liver cells. This buildup is toxic, resulting in the death of liver cells over time. Additionally, the breakdown products of fructose-1-phosphase are needed in the body to produce energy and to maintain blood sugar levels. The combination of decreased cellular energy, low blood sugar, and liver cell death leads to the features of hereditary fructose intolerance.",GHR,hereditary fructose intolerance +Is hereditary fructose intolerance inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary fructose intolerance +What are the treatments for hereditary fructose intolerance ?,These resources address the diagnosis or management of hereditary fructose intolerance: - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis - Gene Review: Gene Review: Hereditary Fructose Intolerance - Genetic Testing Registry: Hereditary fructosuria - MedlinePlus Encyclopedia: Hereditary Fructose Intolerance These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary fructose intolerance +What is (are) Shwachman-Diamond syndrome ?,"Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML). Shwachman-Diamond syndrome also affects the pancreas, which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic insufficiency. Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder. The complications of this condition can affect several other parts of the body, including the liver, heart, endocrine system (which produces hormones), eyes, teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking.",GHR,Shwachman-Diamond syndrome +How many people are affected by Shwachman-Diamond syndrome ?,Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies.,GHR,Shwachman-Diamond syndrome +What are the genetic changes related to Shwachman-Diamond syndrome ?,"Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes, which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome. In cases where no SBDS mutation is found, the cause of this disorder is unknown.",GHR,Shwachman-Diamond syndrome +Is Shwachman-Diamond syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Shwachman-Diamond syndrome +What are the treatments for Shwachman-Diamond syndrome ?,These resources address the diagnosis or management of Shwachman-Diamond syndrome: - Gene Review: Gene Review: Shwachman-Diamond Syndrome - Genetic Testing Registry: Shwachman syndrome - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Shwachman-Diamond syndrome +What is (are) Myhre syndrome ?,"Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction. People with Myhre syndrome often have hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). Growth is reduced in people with this disorder, beginning before birth and continuing through adolescence. Affected individuals have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. People with Myhre syndrome typically have stiffness of the skin and are usually described as having a muscular appearance. Skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism). Some affected individuals also have an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Other features that occur in some people with this disorder include constriction of the throat (laryngotracheal stenosis), high blood pressure (hypertension), heart or eye abnormalities, and in males, undescended testes (cryptorchidism). A disorder sometimes called laryngotracheal stenosis, arthropathy, prognathism, and short stature (LAPS) syndrome is now generally considered to be the same condition as Myhre syndrome because it has similar symptoms and the same genetic cause.",GHR,Myhre syndrome +How many people are affected by Myhre syndrome ?,"Myhre syndrome is a rare disorder. Only about 30 cases have been documented in the medical literature. For reasons that are unknown, most affected individuals have been males.",GHR,Myhre syndrome +What are the genetic changes related to Myhre syndrome ?,"Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.",GHR,Myhre syndrome +Is Myhre syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Myhre syndrome +What are the treatments for Myhre syndrome ?,These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearing Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Myhre syndrome +What is (are) Alport syndrome ?,"Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.",GHR,Alport syndrome +How many people are affected by Alport syndrome ?,"Alport syndrome occurs in approximately 1 in 50,000 newborns.",GHR,Alport syndrome +What are the genetic changes related to Alport syndrome ?,"Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vessels that remove water and waste products from blood and create urine. Mutations in these genes result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the urine. Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome. Type IV collagen is also an important component of inner ear structures, particularly the organ of Corti, that transform sound waves into nerve impulses for the brain. Alterations in type IV collagen often result in abnormal inner ear function, which can lead to hearing loss. In the eye, this protein is important for maintaining the shape of the lens and the normal color of the retina. Mutations that disrupt type IV collagen can result in misshapen lenses and an abnormally colored retina.",GHR,Alport syndrome +Is Alport syndrome inherited ?,"Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern. The parents of an individual with the autosomal recessive form of this condition each have one copy of the mutated gene and are called carriers. Some carriers are unaffected and others develop a less severe condition called thin basement membrane nephropathy, which is characterized by hematuria. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. It remains unclear why some individuals with one mutation in the COL4A3 or COL4A4 gene have autosomal dominant Alport syndrome and others have thin basement membrane nephropathy.",GHR,Alport syndrome +What are the treatments for Alport syndrome ?,"These resources address the diagnosis or management of Alport syndrome: - Gene Review: Gene Review: Alport Syndrome and Thin Basement Membrane Nephropathy - Genetic Testing Registry: Alport syndrome - Genetic Testing Registry: Alport syndrome, X-linked recessive - Genetic Testing Registry: Alport syndrome, autosomal dominant - Genetic Testing Registry: Alport syndrome, autosomal recessive - MedlinePlus Encyclopedia: Alport Syndrome - MedlinePlus Encyclopedia: End-Stage Kidney Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Alport syndrome +What is (are) Huntington disease-like syndrome ?,"As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder. HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin. HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.",GHR,Huntington disease-like syndrome +How many people are affected by Huntington disease-like syndrome ?,"Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African heritage (especially black South Africans). HDL1 has been reported in only one family. HDL3 has been found in two families, both of which were from Saudi Arabia.",GHR,Huntington disease-like syndrome +What are the genetic changes related to Huntington disease-like syndrome ?,"In about one percent of people with the characteristic features of Huntington disease, no mutation in the HD gene has been identified. Mutations in the PRNP, JPH3, and TBP genes have been found to cause the signs and symptoms in some of these individuals. HDL1 is caused by mutations in the PRNP gene, while HDL2 results from mutations in JPH3. Mutations in the TBP gene are responsible for HDL4 (also known as spinocerebellar ataxia type 17). The genetic cause of HDL3 is unknown. The PRNP, JPH3, and TBP genes provide instructions for making proteins that are important for normal brain function. The features of HDL syndromes result from a particular type of mutation in any one of these genes. This mutation increases the length of a repeated segment of DNA within the gene, which leads to the production of an abnormal PRNP, JPH3, or TBP protein. The abnormal protein can build up in nerve cells (neurons) and disrupt the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of HDL syndromes. Other medical conditions and gene mutations may also cause signs and symptoms resembling Huntington disease. In some affected people, the cause of the disorder is never identified.",GHR,Huntington disease-like syndrome +Is Huntington disease-like syndrome inherited ?,"HDL1, HDL2, and HDL4 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. As the mutation responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. This phenomenon is known as anticipation. HDL3 is probably inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.",GHR,Huntington disease-like syndrome +What are the treatments for Huntington disease-like syndrome ?,These resources address the diagnosis or management of Huntington disease-like syndrome: - Gene Review: Gene Review: Huntington Disease-Like 2 - Gene Review: Gene Review: Spinocerebellar Ataxia Type 17 - Genetic Testing Registry: Huntington disease-like 1 - Genetic Testing Registry: Huntington disease-like 2 - Genetic Testing Registry: Huntington disease-like 3 - Genetic Testing Registry: Spinocerebellar ataxia 17 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Huntington disease-like syndrome +What is (are) Holt-Oram syndrome ?,"Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by x-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each side. In cases where the skeletal abnormalities are not the same on both sides of the body, the left side is usually more severely affected than the right side. About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening. The most common problem is a defect in the muscular wall (septum) that separates the right and left sides of the heart. A hole in the septum between the upper chambers of the heart (atria) is called an atrial septal defect (ASD), and a hole in the septum between the lower chambers of the heart (ventricles) is called a ventricular septal defect (VSD). Some people with Holt-Oram syndrome have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). Cardiac conduction disease can occur along with other heart defects (such as ASD or VSD) or as the only heart problem in people with Holt-Oram syndrome. The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome; however, these two disorders are caused by mutations in different genes.",GHR,Holt-Oram syndrome +How many people are affected by Holt-Oram syndrome ?,"Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.",GHR,Holt-Oram syndrome +What are the genetic changes related to Holt-Oram syndrome ?,"Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). The TBX5 gene also appears to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to the characteristic features of Holt-Oram syndrome.",GHR,Holt-Oram syndrome +Is Holt-Oram syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Holt-Oram syndrome +What are the treatments for Holt-Oram syndrome ?,These resources address the diagnosis or management of Holt-Oram syndrome: - Gene Review: Gene Review: Holt-Oram Syndrome - Genetic Testing Registry: Holt-Oram syndrome - MedlinePlus Encyclopedia: Atrial Septal Defect - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities - MedlinePlus Encyclopedia: Ventricular Septal Defect These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Holt-Oram syndrome +What is (are) alpha-methylacyl-CoA racemase deficiency ?,"Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.",GHR,alpha-methylacyl-CoA racemase deficiency +How many people are affected by alpha-methylacyl-CoA racemase deficiency ?,AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature.,GHR,alpha-methylacyl-CoA racemase deficiency +What are the genetic changes related to alpha-methylacyl-CoA racemase deficiency ?,"AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system. In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid. Most individuals with AMACR deficiency have an AMACR gene mutation that results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the blood. However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency.",GHR,alpha-methylacyl-CoA racemase deficiency +Is alpha-methylacyl-CoA racemase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,alpha-methylacyl-CoA racemase deficiency +What are the treatments for alpha-methylacyl-CoA racemase deficiency ?,These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alpha-methylacyl-CoA racemase deficiency +What is (are) cytochrome c oxidase deficiency ?,"Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other health problems. More severely affected people have myopathy along with severe brain dysfunction (encephalomyopathy). Approximately one quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver, which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening. Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. Cytochrome c oxidase deficiency is frequently fatal in childhood, although some individuals with mild signs and symptoms survive into adolescence or adulthood.",GHR,cytochrome c oxidase deficiency +How many people are affected by cytochrome c oxidase deficiency ?,"In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in 1 in 35,000 individuals. The prevalence of this condition outside this region is unknown.",GHR,cytochrome c oxidase deficiency +What are the genetic changes related to cytochrome c oxidase deficiency ?,"Cytochrome c oxidase deficiency is caused by mutations in one of at least 14 genes. In humans, most genes are found in DNA in the cell's nucleus (nuclear DNA). However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). Most cases of cytochrome c oxidase deficiency are caused by mutations in genes found within nuclear DNA; however, in some rare instances, mutations in genes located within mtDNA cause this condition. The genes associated with cytochrome c oxidase deficiency are involved in energy production in mitochondria through a process called oxidative phosphorylation. The gene mutations that cause cytochrome c oxidase deficiency affect an enzyme complex called cytochrome c oxidase, which is responsible for one of the final steps in oxidative phosphorylation. Cytochrome c oxidase is made up of two large enzyme complexes called holoenzymes, which are each composed of multiple protein subunits. Three of these subunits are produced from mitochondrial genes; the rest are produced from nuclear genes. Many other proteins, all produced from nuclear genes, are involved in assembling these subunits into holoenzymes. Most mutations that cause cytochrome c oxidase alter proteins that assemble the holoenzymes. As a result, the holoenzymes are either partially assembled or not assembled at all. Without complete holoenzymes, cytochrome c oxidase cannot form. Mutations in the three mitochondrial genes and a few nuclear genes that provide instructions for making the holoenzyme subunits can also cause cytochrome c oxidase deficiency. Altered subunit proteins reduce the function of the holoenzymes, resulting in a nonfunctional version of cytochrome c oxidase. A lack of functional cytochrome c oxidase disrupts the last step of oxidative phosphorylation, causing a decrease in energy production. Researchers believe that impaired oxidative phosphorylation can lead to cell death by reducing the amount of energy available in the cell. Certain tissues that require large amounts of energy, such as the brain, muscles, and heart, seem especially sensitive to decreases in cellular energy. Cell death in other sensitive tissues may also contribute to the features of cytochrome c oxidase deficiency.",GHR,cytochrome c oxidase deficiency +Is cytochrome c oxidase deficiency inherited ?,"Cytochrome c oxidase deficiency can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in genes within nuclear DNA, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When this condition is caused by mutations in genes within mtDNA, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.",GHR,cytochrome c oxidase deficiency +What are the treatments for cytochrome c oxidase deficiency ?,"These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Testing Registry: Cytochrome-c oxidase deficiency - The United Mitochondrial Disease Foundation: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,cytochrome c oxidase deficiency +What is (are) Costello syndrome ?,"Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. The most common noncancerous tumors associated with this condition are papillomas, which are small, wart-like growths that usually develop around the nose and mouth or near the anus. The most common cancerous tumor associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor that arises in developing nerve cells, also has been reported in children and adolescents with this syndrome. In addition, some teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is usually seen in older adults. The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by their genetic cause and by specific patterns of signs and symptoms that develop later in childhood.",GHR,Costello syndrome +How many people are affected by Costello syndrome ?,"This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.",GHR,Costello syndrome +What are the genetic changes related to Costello syndrome ?,"Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with one another and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms.",GHR,Costello syndrome +Is Costello syndrome inherited ?,"Costello syndrome is considered to be an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.",GHR,Costello syndrome +What are the treatments for Costello syndrome ?,These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Costello syndrome +What is (are) glycogen storage disease type IX ?,"Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue. When GSD IX affects the liver, the signs and symptoms typically begin in early childhood. The initial features are usually an enlarged liver (hepatomegaly) and slow growth. Affected children are often shorter than normal. During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Affected children may have delayed development of motor skills, such as sitting, standing, or walking, and some have mild muscle weakness. Puberty is delayed in some adolescents with GSD IX. In the form of the condition that affects the liver, the signs and symptoms usually improve with age. Typically, individuals catch up developmentally, and adults reach normal height. However, some affected individuals have a buildup of scar tissue (fibrosis) in the liver, which can rarely progress to irreversible liver disease (cirrhosis). GSD IX can affect muscle tissue, although this form of the condition is very rare and not well understood. The features of this form of the condition can appear anytime from childhood to adulthood. Affected individuals may experience fatigue, muscle pain, and cramps, especially during exercise (exercise intolerance). Most affected individuals have muscle weakness that worsens over time. GSD IX can cause myoglobinuria, which occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin that is excreted in the urine. Myoglobinuria can cause the urine to be red or brown. In a small number of people with GSD IX, the liver and muscles are both affected. These individuals develop a combination of the features described above, although the muscle problems are usually mild.",GHR,glycogen storage disease type IX +How many people are affected by glycogen storage disease type IX ?,"GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.",GHR,glycogen storage disease type IX +What are the genetic changes related to glycogen storage disease type IX ?,"Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. At least two different versions of phosphorylase b kinase are formed from the subunits: one is most abundant in liver cells and the other in muscle cells. The PHKA1 and PHKA2 genes provide instructions for making alpha subunits of phosphorylase b kinase. The protein produced from the PHKA1 gene is a subunit of the muscle enzyme, while the protein produced from the PHKA2 gene is part of the liver enzyme. The PHKB gene provides instructions for making the beta subunit, which is found in both the muscle and the liver. The PHKG2 gene provides instructions for making the gamma subunit of the liver enzyme. Whether in the liver or the muscles, phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance to maintain normal levels of glucose in the blood between meals or for energy during exercise. Phosphorylase b kinase turns on (activates) the enzyme that breaks down glycogen. Although the effects of gene mutations on the respective protein subunits are unknown, mutations in the PHKA1, PHKA2, PHKB, and PHKG2 genes reduce the activity of phosphorylase b kinase in liver or muscle cells and in blood cells. Reduction of this enzyme's function impairs glycogen breakdown. As a result, glycogen accumulates in and damages cells, and glucose is not available for energy. Glycogen accumulation in the liver leads to hepatomegaly, and the liver's inability to break down glycogen for glucose contributes to hypoglycemia and ketosis. Reduced energy production in muscle cells leads to muscle weakness, pain, and cramping.",GHR,glycogen storage disease type IX +Is glycogen storage disease type IX inherited ?,"GSD IX can have different inheritance patterns depending on the genetic cause of the condition. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, some women with one altered copy of the PHKA2 gene have signs and symptoms of GSD IX, such as mild hepatomegaly or short stature in childhood. These features are usually mild but can be more severe in rare cases. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When the condition is caused by mutations in the PHKB or PHKG2 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type IX +What are the treatments for glycogen storage disease type IX ?,These resources address the diagnosis or management of glycogen storage disease type IX: - Gene Review: Gene Review: Phosphorylase Kinase Deficiency - Genetic Testing Registry: Glycogen storage disease IXb - Genetic Testing Registry: Glycogen storage disease IXc - Genetic Testing Registry: Glycogen storage disease IXd - Genetic Testing Registry: Glycogen storage disease type IXa1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glycogen storage disease type IX +What is (are) cerebrotendinous xanthomatosis ?,"Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone). Other features of cerebrotendinous xanthomatosis include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria). The neurological symptoms are thought to be caused by an accumulation of fats and an increasing number of xanthomas in the brain. Xanthomas can also accumulate in the fatty substance that insulates and protects nerves (myelin), disrupting nerve signaling in the brain. Disorders that involve the destruction of myelin are known as leukodystrophies. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems. Xanthomas in the tendons (most commonly in the Achilles tendon, which connects the heel of the foot to the calf muscles) begin to form in early adulthood. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease. If untreated, the signs and symptoms related to the accumulation of lipids throughout the body worsen over time; however, the course of this condition varies greatly among those who are affected.",GHR,cerebrotendinous xanthomatosis +How many people are affected by cerebrotendinous xanthomatosis ?,"The incidence of cerebrotendinous xanthomatosis is estimated to be 3 to 5 per 100,000 people worldwide. This condition is more common in the Moroccan Jewish population with an incidence of 1 in 108 individuals.",GHR,cerebrotendinous xanthomatosis +What are the genetic changes related to cerebrotendinous xanthomatosis ?,"Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27-hydroxylase impair its ability to break down cholesterol to a specific bile acid called chenodeoxycholic acid. As a result, a molecule called cholestanol, which is similar to cholesterol, accumulates in xanthomas, blood, nerve cells, and the brain. Cholesterol levels are not increased in the blood, but they are elevated in various tissues throughout the body. The accumulation of cholesterol and cholestanol in the brain, tendons, and other tissues causes the signs and symptoms of cerebrotendinous xanthomatosis.",GHR,cerebrotendinous xanthomatosis +Is cerebrotendinous xanthomatosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cerebrotendinous xanthomatosis +What are the treatments for cerebrotendinous xanthomatosis ?,These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cerebrotendinous xanthomatosis +What is (are) critical congenital heart disease ?,"Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth. Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment. Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death. Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities. People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.",GHR,critical congenital heart disease +How many people are affected by critical congenital heart disease ?,"Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year.",GHR,critical congenital heart disease +What are the genetic changes related to critical congenital heart disease ?,"In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD. CCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body). However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. Some of these genetic conditions, such as Down syndrome, Turner syndrome, and 22q11.2 deletion syndrome, result from changes in the number or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single genes. Environmental factors may also contribute to the development of CCHD. Potential risk factors that have been studied include exposure to certain chemicals or drugs before birth, viral infections (such as rubella and influenza) that occur during pregnancy, and other maternal illnesses including diabetes and phenylketonuria. Although researchers are examining risk factors that may be associated with this complex condition, many of these factors remain unknown.",GHR,critical congenital heart disease +Is critical congenital heart disease inherited ?,"Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population.",GHR,critical congenital heart disease +What are the treatments for critical congenital heart disease ?,"These resources address the diagnosis or management of critical congenital heart disease: - Baby's First Test: Critical Congenital Heart Disease - Boston Children's Hospital - Centers for Disease Control and Prevention: Screening for Critical Congenital Heart Defects - Children's Hospital of Philadelphia - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Congenital heart disease - Genetic Testing Registry: Ebstein's anomaly - Genetic Testing Registry: Hypoplastic left heart syndrome - Genetic Testing Registry: Hypoplastic left heart syndrome 2 - Genetic Testing Registry: Persistent truncus arteriosus - Genetic Testing Registry: Pulmonary atresia with intact ventricular septum - Genetic Testing Registry: Pulmonary atresia with ventricular septal defect - Genetic Testing Registry: Tetralogy of Fallot - Genetic Testing Registry: Transposition of the great arteries - Genetic Testing Registry: Transposition of the great arteries, dextro-looped 2 - Genetic Testing Registry: Transposition of the great arteries, dextro-looped 3 - Genetic Testing Registry: Tricuspid atresia - Screening, Technology, and Research in Genetics (STAR-G) - University of California, San Francisco Fetal Treatment Center: Congenital Heart Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,critical congenital heart disease +What is (are) microphthalmia with linear skin defects syndrome ?,"Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring. The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).",GHR,microphthalmia with linear skin defects syndrome +How many people are affected by microphthalmia with linear skin defects syndrome ?,The prevalence of microphthalmia with linear skin defects syndrome is unknown. More than 50 affected individuals have been identified.,GHR,microphthalmia with linear skin defects syndrome +What are the genetic changes related to microphthalmia with linear skin defects syndrome ?,"Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells. Within the mitochondria, the holocytochrome c-type synthase enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in a process called oxidative phosphorylation, by which mitochondria generate adenosine triphosphate (ATP), the cell's main energy source. It also plays a role in the self-destruction of cells (apoptosis). HCCS gene mutations result in a holocytochrome c-type synthase enzyme that cannot perform its function. A deletion of genetic material that includes the HCCS gene prevents the production of the enzyme. A lack of functional holocytochrome c-type synthase enzyme can damage cells by impairing their ability to generate energy. In addition, without the holocytochrome c-type synthase enzyme, the damaged cells may not be able to undergo apoptosis. These cells may instead die in a process called necrosis that causes inflammation and damages neighboring cells. During early development this spreading cell damage may lead to the eye abnormalities and other signs and symptoms of microphthalmia with linear skin defects syndrome.",GHR,microphthalmia with linear skin defects syndrome +Is microphthalmia with linear skin defects syndrome inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of the holocytochrome c-type synthase enzyme and other cells produce none. The resulting overall reduction in the amount of this enzyme leads to the signs and symptoms of microphthalmia with linear skin defects syndrome. In males (who have only one X chromosome), mutations result in a total loss of the holocytochrome c-type synthase enzyme. A lack of this enzyme appears to be lethal very early in development, so almost no males are born with microphthalmia with linear skin defects syndrome. A few affected individuals with male appearance but who have two X chromosomes have been identified. Most cases of microphthalmia with linear skin defects syndrome occur in people with no history of the disorder in their family. These cases usually result from the deletion of a segment of the X chromosome during the formation of reproductive cells (eggs and sperm) or in early fetal development. They may also result from a new mutation in the HCCS gene.",GHR,microphthalmia with linear skin defects syndrome +What are the treatments for microphthalmia with linear skin defects syndrome ?,"These resources address the diagnosis or management of microphthalmia with linear skin defects syndrome: - Gene Review: Gene Review: Microphthalmia with Linear Skin Defects Syndrome - Genetic Testing Registry: Microphthalmia, syndromic, 7 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,microphthalmia with linear skin defects syndrome +What is (are) medium-chain acyl-CoA dehydrogenase deficiency ?,"Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,medium-chain acyl-CoA dehydrogenase deficiency +How many people are affected by medium-chain acyl-CoA dehydrogenase deficiency ?,"In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.",GHR,medium-chain acyl-CoA dehydrogenase deficiency +What are the genetic changes related to medium-chain acyl-CoA dehydrogenase deficiency ?,"Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.",GHR,medium-chain acyl-CoA dehydrogenase deficiency +Is medium-chain acyl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,medium-chain acyl-CoA dehydrogenase deficiency +What are the treatments for medium-chain acyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of MCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Medium-chain acyl-coenzyme A dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,medium-chain acyl-CoA dehydrogenase deficiency +What is (are) branchiootorenal/branchiootic syndrome ?,"Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). ""Branchio-"" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically. ""Oto-"" and ""-otic"" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively. ""Renal"" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.",GHR,branchiootorenal/branchiootic syndrome +How many people are affected by branchiootorenal/branchiootic syndrome ?,"Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people.",GHR,branchiootorenal/branchiootic syndrome +What are the genetic changes related to branchiootorenal/branchiootic syndrome ?,"Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. Some affected individuals originally reported to have SIX5 gene mutations were later found to have EYA1 gene mutations as well, and researchers suspect that the EYA1 gene mutations may be the actual cause of the condition in these people. The proteins produced from the EYA1, SIX1, and SIX5 genes play important roles in development before birth. The EYA1 protein interacts with several other proteins, including SIX1 and SIX5, to regulate the activity of genes involved in many aspects of embryonic development. Research suggests that these protein interactions are essential for the normal formation of many organs and tissues, including the second branchial arch, ears, and kidneys. Mutations in the EYA1, SIX1, or SIX5 gene may disrupt the proteins' ability to interact with one another and regulate gene activity. The resulting genetic changes affect the development of organs and tissues before birth, which leads to the characteristic features of BOR/BO syndrome. Some people with BOR/BO syndrome do not have an identified mutation in any of the genes listed above. In these cases, the cause of the condition is unknown.",GHR,branchiootorenal/branchiootic syndrome +Is branchiootorenal/branchiootic syndrome inherited ?,"BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,branchiootorenal/branchiootic syndrome +What are the treatments for branchiootorenal/branchiootic syndrome ?,These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic syndrome 2 - Genetic Testing Registry: Branchiootic syndrome 3 - Genetic Testing Registry: Branchiootorenal syndrome 2 - Genetic Testing Registry: Melnick-Fraser syndrome - MedlinePlus Encyclopedia: Branchial Cleft Cyst - MedlinePlus Encyclopedia: End-Stage Kidney Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,branchiootorenal/branchiootic syndrome +What is (are) Weyers acrofacial dysostosis ?,"Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly). The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.",GHR,Weyers acrofacial dysostosis +How many people are affected by Weyers acrofacial dysostosis ?,Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide.,GHR,Weyers acrofacial dysostosis +What are the genetic changes related to Weyers acrofacial dysostosis ?,"Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. The mutations that cause Weyers acrofacial dysostosis result in the production of an abnormal EVC or EVC2 protein. It is unclear how the abnormal proteins lead to the specific signs and symptoms of this condition. Studies suggest that they interfere with Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the teeth, nails, and bones.",GHR,Weyers acrofacial dysostosis +Is Weyers acrofacial dysostosis inherited ?,"Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition.",GHR,Weyers acrofacial dysostosis +What are the treatments for Weyers acrofacial dysostosis ?,These resources address the diagnosis or management of Weyers acrofacial dysostosis: - Genetic Testing Registry: Curry-Hall syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Weyers acrofacial dysostosis +What is (are) cleidocranial dysplasia ?,"Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases the shoulders can be made to meet in the middle of the body. Delayed closing of the spaces between the bones of the skull (fontanels) is also characteristic of this condition. The fontanels usually close in early childhood, but may remain open into adulthood in people with this disorder. Affected individuals may be 3 to 6 inches shorter than other members of their family, and may have short, tapered fingers and broad thumbs; short forearms; flat feet; knock knees; and an abnormal curvature of the spine (scoliosis). Characteristic facial features may include a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw. Individuals with cleidocranial dysplasia may have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head. Dental abnormalities seen in cleidocranial dysplasia may include delayed loss of the primary (baby) teeth; delayed appearance of the secondary (adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the gums. In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and be prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.",GHR,cleidocranial dysplasia +How many people are affected by cleidocranial dysplasia ?,Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide.,GHR,cleidocranial dysplasia +What are the genetic changes related to cleidocranial dysplasia ?,"The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a ""master switch,"" regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing. These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown.",GHR,cleidocranial dysplasia +Is cleidocranial dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,cleidocranial dysplasia +What are the treatments for cleidocranial dysplasia ?,These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cleidocranial dysplasia +What is (are) Tietz syndrome ?,"Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family. Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.",GHR,Tietz syndrome +How many people are affected by Tietz syndrome ?,Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature.,GHR,Tietz syndrome +What are the genetic changes related to Tietz syndrome ?,"Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a two-protein unit (dimer). The dimer attaches to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the MITF protein is called a transcription factor. The MITF protein helps control the development and function of pigment-producing cells called melanocytes. Within these cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in the inner ear and play an important role in hearing. Additionally, the MITF protein regulates the development of the retinal pigment epithelium. MITF gene mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in an area of the MITF protein known as the basic motif region. Dimers incorporating the abnormal MITF protein cannot be transported into the cell nucleus to bind with DNA. As a result, most of the dimers are unavailable to bind to DNA, which affects the development of melanocytes and the production of melanin. The resulting reduction or absence of melanocytes in the inner ear leads to hearing loss. Decreased melanin production (hypopigmentation) accounts for the light skin and hair color and the retinal pigment epithelium changes that are characteristic of Tietz syndrome. Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by MITF gene mutations.",GHR,Tietz syndrome +Is Tietz syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,Tietz syndrome +What are the treatments for Tietz syndrome ?,These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Tietz syndrome +What is (are) Weill-Marchesani syndrome ?,"Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches. An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness. Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.",GHR,Weill-Marchesani syndrome +How many people are affected by Weill-Marchesani syndrome ?,"Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people.",GHR,Weill-Marchesani syndrome +What are the genetic changes related to Weill-Marchesani syndrome ?,"Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome. A mutation in the FBN1 gene has also been found to cause Weill-Marchesani syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. This protein is needed to form threadlike filaments, called microfibrils, that help provide strength and flexibility to connective tissue. The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. Researchers believe that the unstable protein interferes with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome. In some people with Weill-Marchesani syndrome, no mutations in ADAMTS10 or FBN1 have been found. Researchers are looking for other genetic changes that may be responsible for the disorder in these people.",GHR,Weill-Marchesani syndrome +Is Weill-Marchesani syndrome inherited ?,"Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Other cases of Weill-Marchesani syndrome, including those caused by mutations in the FBN1 gene, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the genetic change from one parent with the condition.",GHR,Weill-Marchesani syndrome +What are the treatments for Weill-Marchesani syndrome ?,These resources address the diagnosis or management of Weill-Marchesani syndrome: - Gene Review: Gene Review: Weill-Marchesani Syndrome - Genetic Testing Registry: Weill-Marchesani syndrome - Genetic Testing Registry: Weill-Marchesani syndrome 1 - Genetic Testing Registry: Weill-Marchesani syndrome 2 - Genetic Testing Registry: Weill-Marchesani syndrome 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Weill-Marchesani syndrome +What is (are) familial idiopathic basal ganglia calcification ?,"Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected. The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders. The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.",GHR,familial idiopathic basal ganglia calcification +How many people are affected by familial idiopathic basal ganglia calcification ?,"FIBGC is thought to be a rare disorder; about 60 affected families have been described in the medical literature. However, because brain imaging tests are needed to recognize the calcium deposits, this condition is believed to be underdiagnosed.",GHR,familial idiopathic basal ganglia calcification +What are the genetic changes related to familial idiopathic basal ganglia calcification ?,"Mutations in the SLC20A2 gene cause nearly half of all cases of FIBGC. A small percentage of cases are caused by mutations in the PDGFRB gene. Other cases of FIBGC appear to be associated with changes in chromosomes 2, 7, 9, and 14, although specific genes have yet to be identified. These findings suggest that multiple genes are involved in this condition. The SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein plays a major role in regulating phosphate levels within the body (phosphate homeostasis) by transporting phosphate across cell membranes. The SLC20A2 gene mutations that cause FIBGC lead to the production of a PiT-2 protein that cannot effectively transport phosphate into cells. As a result, phosphate levels in the bloodstream rise. In the brain, the excess phosphate combines with calcium and forms deposits. The PDGFRB gene provides instructions for making a protein that plays a role in turning on (activating) signaling pathways that control many cell processes. It is unclear how PDGFRB gene mutations cause FIBGC. Mutations may alter signaling within cells that line blood vessels in the brain, causing them to take in excess calcium, and leading to calcification of the lining of these blood vessels. Alternatively, changes in the PDGFRB protein could alter phosphate transport signaling pathways, causing an increase in phosphate levels and the formation of calcium deposits. Researchers suggest that calcium deposits lead to the characteristic features of FIBGC by interrupting signaling pathways in various parts of the brain. Calcium deposits may disrupt the pathways that connect the basal ganglia to other areas of the brain, particularly the frontal lobes. These areas at the front of the brain are involved in reasoning, planning, judgment, and problem-solving. The regions of the brain that regulate social behavior, mood, and motivation may also be affected. Research has shown that people with significant calcification tend to have more signs and symptoms of FIBGC than people with little or no calcification. However, this association does not apply to all people with FIBGC.",GHR,familial idiopathic basal ganglia calcification +Is familial idiopathic basal ganglia calcification inherited ?,"FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. In most cases, an affected person has one parent with the condition.",GHR,familial idiopathic basal ganglia calcification +What are the treatments for familial idiopathic basal ganglia calcification ?,"These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 4 - Genetic Testing Registry: Idiopathic basal ganglia calcification 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial idiopathic basal ganglia calcification +What is (are) monilethrix ?,"Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily. Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs. Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.",GHR,monilethrix +How many people are affected by monilethrix ?,The prevalence of monilethrix is unknown.,GHR,monilethrix +What are the genetic changes related to monilethrix ?,"Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair. Hair growth occurs in the hair follicle, a specialized structure in the skin. As the cells of the hair follicle mature to take on specialized functions (differentiate), they produce particular proteins and form the different compartments of the hair follicle and the hair shaft. As the cells in the hair follicle divide, the hair shaft is pushed upward and extends beyond the skin. The KRT81, KRT83, and KRT86 genes provide instructions for making proteins known as keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of cells that make up the hair, skin, and nails. The KRT81 gene provides instructions for making the type II hair keratin K81 protein (K81); the KRT83 gene provides instruction for making the type II hair keratin K83 protein (K83); and the KRT86 gene provides instructions for making the type II hair keratin K86 protein (K86). The K81, K83, and K86 proteins are found in cells of the inner compartment of the hair shaft known as the cortex. These proteins give hair its strength and elasticity. The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. These structures help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in particular regions of the hair follicle, including the hair shaft cortex. Desmosomes in these regions provide strength to the hair and are thought to play a role in communicating the signals for cells to differentiate to form the hair shaft. In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT81, KRT83, KRT86, or DSG4 genes are related to the abnormality in the cortex or the beaded appearance of the hair. Some people with monilethrix do not have a mutation in one of these genes. These individuals may have a genetic change in another gene, or the cause of the condition may be unknown.",GHR,monilethrix +Is monilethrix inherited ?,"Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new mutation in the gene and is not inherited. When the condition is caused by mutations in the DSG4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,monilethrix +What are the treatments for monilethrix ?,These resources address the diagnosis or management of monilethrix: - Genetic Testing Registry: Beaded hair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,monilethrix +What is (are) ovarian cancer ?,"Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60. The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary. Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts. In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases. Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 140,000 women annually, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.",GHR,ovarian cancer +How many people are affected by ovarian cancer ?,"Ovarian cancer affects about 12 in 100,000 women per year.",GHR,ovarian cancer +What are the genetic changes related to ovarian cancer ?,"Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and are present only in certain cells in the ovary. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. The protein produced from this gene is described as a tumor suppressor because it helps keep cells from growing and dividing too fast or in an uncontrolled way. Most of these mutations change single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor suppressor function. Because the altered protein is less able to regulate cell growth and division, a cancerous tumor may develop. Somatic mutations in many other genes have also been found in ovarian cancer cells. In hereditary ovarian cancer, the associated genetic changes are passed down within a family. These changes, classified as germline mutations, are present in all the body's cells. In people with germline mutations, other inherited and somatic gene changes, together with environmental and lifestyle factors, also influence whether a woman will develop ovarian cancer. Germline mutations are involved in more than one-fifth of ovarian cancer cases. Between 65 and 85 percent of these mutations are in the BRCA1 or BRCA2 gene. These gene mutations are described as ""high penetrance"" because they are associated with a high risk of developing ovarian cancer, breast cancer, and several other types of cancer in women. Compared to a 1.6 percent lifetime risk of developing ovarian cancer for women in the total population, the lifetime risk in women with a BRCA1 gene mutation is 40 to 60 percent, and the lifetime risk in women with a BRCA2 gene mutation is 20 to 35 percent. Men with mutations in these genes also have an increased risk of developing several forms of cancer. The proteins produced from the BRCA1 and BRCA2 genes are tumor suppressors that are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor. A significantly increased risk of ovarian cancer is also a feature of certain rare genetic syndromes, including a disorder called Lynch syndrome. Lynch syndrome is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 and 15 percent of hereditary ovarian cancers. Other rare genetic syndromes may also be associated with an increased risk of ovarian cancer. The proteins produced from the genes associated with these syndromes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered ""high penetrance"" because mutations greatly increase a person's chance of developing cancer. In addition to ovarian cancer, mutations in these genes increase the risk of several other types of cancer in both men and women. Germline mutations in dozens of other genes have been studied as possible risk factors for ovarian cancer. These genes are described as ""low penetrance"" or ""moderate penetrance"" because changes in each of these genes appear to make only a small or moderate contribution to overall ovarian cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing ovarian cancer. In many families, the genetic changes associated with hereditary ovarian cancer are unknown. Identifying additional genetic risk factors for ovarian cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a woman's risk of developing ovarian cancer. These factors include age, ethnic background, and hormonal and reproductive factors. A history of ovarian cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.",GHR,ovarian cancer +Is ovarian cancer inherited ?,"Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although ovarian cancer occurs only in women, the mutated gene can be inherited from either the mother or the father. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer. In many cases of ovarian cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.",GHR,ovarian cancer +What are the treatments for ovarian cancer ?,These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian cancer syndrome - Genetic Testing Registry: Ovarian cancer - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer - M.D. Anderson Cancer Center - MedlinePlus Encyclopedia: BRCA1 and BRCA2 Gene Testing - MedlinePlus Encyclopedia: CA-125 Blood Test - Memorial Sloan-Kettering Cancer Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ovarian cancer +What is (are) Schimke immuno-osseous dysplasia ?,"Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness. Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose. Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females. In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood.",GHR,Schimke immuno-osseous dysplasia +How many people are affected by Schimke immuno-osseous dysplasia ?,Schimke immuno-osseous dysplasia is a very rare condition. The prevalence in North America is estimated to be one in 1 million to 3 million people.,GHR,Schimke immuno-osseous dysplasia +What are the genetic changes related to Schimke immuno-osseous dysplasia ?,"Mutations in the SMARCAL1 gene increase the risk of Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based on the function of similar proteins, SMARCAL1 is thought to influence the activity (expression) of other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Mutations in the SMARCAL1 gene are thought to lead to disease by affecting protein activity, protein stability, or the protein's ability to bind to chromatin. It is not clear if mutations in the SMARCAL1 gene interfere with chromatin remodeling and the expression of other genes. The mutations associated with Schimke immuno-osseous dysplasia disrupt the usual functions of the SMARCAL1 protein or prevent the production of any functional protein. People who have mutations that cause a complete lack of functional protein tend to have a more severe form of this disorder than those who have mutations that lead to an active but malfunctioning protein. However, in order for people with SMARCAL1 gene mutations to develop Schimke immuno-osseous dysplasia, other currently unknown genetic or environmental factors must also be present. Approximately half of all people with Schimke immuno-osseous dysplasia do not have identified mutations in the SMARCAL1 gene. In these cases, the cause of the disease is unknown.",GHR,Schimke immuno-osseous dysplasia +Is Schimke immuno-osseous dysplasia inherited ?,"Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Schimke immuno-osseous dysplasia +What are the treatments for Schimke immuno-osseous dysplasia ?,These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Schimke immuno-osseous dysplasia +What is (are) spastic paraplegia type 7 ?,"Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 7 can occur in either the pure or complex form. Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and increased muscle weakness. People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features are usually noticeable in adulthood.",GHR,spastic paraplegia type 7 +How many people are affected by spastic paraplegia type 7 ?,"The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases.",GHR,spastic paraplegia type 7 +What are the genetic changes related to spastic paraplegia type 7 ?,"Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria. When there is a mutation in paraplegin, the m-AAA protease cannot function correctly. Nonfunctional m-AAA proteases cause a build up of unusable proteins in the mitochondria of nerve cells, which can result in swelling of the cell, reduced cell signaling, and impaired cell movement, leading to the major signs and symptoms of spastic paraplegia type 7.",GHR,spastic paraplegia type 7 +Is spastic paraplegia type 7 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spastic paraplegia type 7 +What are the treatments for spastic paraplegia type 7 ?,"These resources address the diagnosis or management of spastic paraplegia type 7: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 7 - Genetic Testing Registry: Spastic paraplegia 7 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 7 +What is (are) Hajdu-Cheney syndrome ?,"Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. Bone loss in the fingers can interfere with fine motor skills, such as picking up small objects. Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. Affected individuals develop osteoporosis, which causes the bones to be brittle and prone to fracture. Many affected individuals experience breakage (compression fractures) of the spinal bones (vertebrae). Some also develop abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome also affects the shape and strength of the long bones in the arms and legs. The abnormalities associated with this condition lead to short stature. Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described as dolichocephalic, which means it is elongated from back to front. In many affected individuals, the bone at the back of the skull bulges outward, causing a bump called a prominent occiput. Distinctive facial features associated with this condition include widely spaced and downward-slanting eyes, eyebrows that grow together in the middle (synophrys), low-set ears, a sunken appearance of the middle of the face (midface hypoplasia), and a large space between the nose and upper lip (a long philtrum). Some affected children are born with an opening in the roof of the mouth called a cleft palate or with a high arched palate. In affected adults, the facial features are often described as ""coarse."" Other features of Hajdu-Cheney syndrome found in some affected individuals include joint abnormalities, particularly an unusually large range of joint movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; excess body hair; recurrent infections in childhood; heart defects; and kidney abnormalities such as the growth of multiple fluid-filled cysts (polycystic kidneys). Some people with this condition have delayed development in childhood, but the delays are usually mild. The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. Platybasia is a flattening of the base of the skull caused by thinning and softening of the skull bones. Basilar invagination occurs when the softened bones allow part of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death. The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected individuals, even among members of the same family. Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. The risk of developing platybasia and basilar invagination also increases over time. The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although they used to be considered separate disorders, researchers discovered that the two conditions are associated with mutations in the same gene. Based on these similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same condition.",GHR,Hajdu-Cheney syndrome +How many people are affected by Hajdu-Cheney syndrome ?,Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer than 100 affected individuals have been described in the medical literature.,GHR,Hajdu-Cheney syndrome +What are the genetic changes related to Hajdu-Cheney syndrome ?,"Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When a ligand binds to the Notch2 receptor, it triggers signals that are important for the normal development and function of many different types of cells. Studies suggest that signaling through the Notch2 receptor is important for the early development of bones and later for bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Notch2 signaling also appears to be involved in the development of the heart, kidneys, teeth, and other parts of the body. Mutations in a specific area near the end of the NOTCH2 gene are associated with Hajdu-Cheney syndrome. These mutations lead to a version of the Notch2 receptor that cannot be broken down normally. As a result, the receptor continues to be active even after signaling should stop. Researchers are unsure how excessive Notch2 signaling is related to the varied features of Hajdu-Cheney syndrome. They suspect that the skeletal features of the disorder, including acro-osteolysis, osteoporosis, and distinctive facial features, likely result from abnormal bone development and remodeling. Excess signaling through the overactive Notch2 receptor may increase the removal of old bone, reduce the formation of new bone, or both. It is less clear how the overactive receptor contributes to the other signs and symptoms of this condition.",GHR,Hajdu-Cheney syndrome +Is Hajdu-Cheney syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the mutation from one affected parent.",GHR,Hajdu-Cheney syndrome +What are the treatments for Hajdu-Cheney syndrome ?,These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Hajdu-Cheney syndrome +What is (are) triple X syndrome ?,"Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children. Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.",GHR,triple X syndrome +How many people are affected by triple X syndrome ?,"This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.",GHR,triple X syndrome +What are the genetic changes related to triple X syndrome ?,"People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism.",GHR,triple X syndrome +Is triple X syndrome inherited ?,"Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).",GHR,triple X syndrome +What are the treatments for triple X syndrome ?,These resources address the diagnosis or management of triple X syndrome: - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome - Genetic Testing Registry: Trisomy X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,triple X syndrome +What is (are) cerebral cavernous malformation ?,"Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral). Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time. There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation.",GHR,cerebral cavernous malformation +How many people are affected by cerebral cavernous malformation ?,Cerebral cavernous malformations affect about 0.5 percent of the population worldwide.,GHR,cerebral cavernous malformation +What are the genetic changes related to cerebral cavernous malformation ?,"Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. The proteins interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. Mutations in any of the three genes impair the function of the protein complex, resulting in weakened cell-to-cell junctions and increased leakage from vessels as seen in cerebral cavernous malformations. Mutations in these three genes account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic cerebral cavernous malformations. The cause of this form of the condition is unknown.",GHR,cerebral cavernous malformation +Is cerebral cavernous malformation inherited ?,"This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent. Most people with cerebral cavernous malformations have the sporadic form of the disorder. These cases occur in people with no history of the disorder in their family.",GHR,cerebral cavernous malformation +What are the treatments for cerebral cavernous malformation ?,These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malformations 1 - Genetic Testing Registry: Cerebral cavernous malformations 2 - Genetic Testing Registry: Cerebral cavernous malformations 3 - MedlinePlus Encyclopedia: Cerebral angiography These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cerebral cavernous malformation +What is (are) complement component 2 deficiency ?,"Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood. Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population. The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.",GHR,complement component 2 deficiency +How many people are affected by complement component 2 deficiency ?,"In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown.",GHR,complement component 2 deficiency +What are the genetic changes related to complement component 2 deficiency ?,"Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders, trigger inflammation, and remove debris from cells and tissues. The complement component 2 protein is involved in the pathway that turns on (activates) the complement system when foreign invaders, such as bacteria, are detected. The most common C2 gene mutation, which is found in more than 90 percent of people with complement component 2 deficiency, prevents the production of complement component 2 protein. A lack of this protein impairs activation of the complement pathway. As a result, the complement system's ability to fight infections is diminished. It is unclear how complement component 2 deficiency leads to an increase in autoimmune disorders. Researchers speculate that the dysfunctional complement system is unable to distinguish what it should attack, and it sometimes attacks normal tissues, leading to autoimmunity. Alternatively, the dysfunctional complement system may perform partial attacks on invading molecules, which leaves behind foreign fragments that are difficult to distinguish from the body's tissues, so the complement system sometimes attacks the body's own cells. It is likely that other factors, both genetic and environmental, play a role in the variability of the signs and symptoms of complement component 2 deficiency.",GHR,complement component 2 deficiency +Is complement component 2 deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,complement component 2 deficiency +What are the treatments for complement component 2 deficiency ?,These resources address the diagnosis or management of complement component 2 deficiency: - Genetic Testing Registry: Complement component 2 deficiency - MedlinePlus Encyclopedia: Complement - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,complement component 2 deficiency +What is (are) aromatic l-amino acid decarboxylase deficiency ?,"Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest. Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.",GHR,aromatic l-amino acid decarboxylase deficiency +How many people are affected by aromatic l-amino acid decarboxylase deficiency ?,AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan.,GHR,aromatic l-amino acid decarboxylase deficiency +What are the genetic changes related to aromatic l-amino acid decarboxylase deficiency ?,"Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system). Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.",GHR,aromatic l-amino acid decarboxylase deficiency +Is aromatic l-amino acid decarboxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,aromatic l-amino acid decarboxylase deficiency +What are the treatments for aromatic l-amino acid decarboxylase deficiency ?,These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency: - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aromatic l-amino acid decarboxylase deficiency +What is (are) Stormorken syndrome ?,"Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).",GHR,Stormorken syndrome +How many people are affected by Stormorken syndrome ?,Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature.,GHR,Stormorken syndrome +What are the genetic changes related to Stormorken syndrome ?,"Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.",GHR,Stormorken syndrome +Is Stormorken syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Stormorken syndrome +What are the treatments for Stormorken syndrome ?,These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Stormorken syndrome +What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?,"Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder. Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life. NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints. Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).",GHR,Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis +How many people are affected by Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?,NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.,GHR,Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis +What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?,"NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs. The KRT14 gene mutations that cause NFJS/DPR most likely reduce the amount of functional keratin 14 that is produced in cells. A shortage of this protein makes cells in the epidermis more likely to self-destruct (undergo apoptosis). The resulting loss of these cells alters the normal development and structure of ectodermal tissues, which likely underlies most of the skin and nail problems characteristic of NFJS/DPR. However, it is unclear how a shortage of keratin 14 is related to changes in skin pigmentation.",GHR,Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis +Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis +What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?,These resources address the diagnosis or management of NFJS/DPR: - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas - Genetic Testing Registry: Dermatopathia pigmentosa reticularis - Genetic Testing Registry: Naegeli-Franceschetti-Jadassohn syndrome - MedlinePlus Encyclopedia: Ectodermal Dysplasia - MedlinePlus Encyclopedia: Nail Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis +What is (are) trisomy 18 ?,"Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.",GHR,trisomy 18 +How many people are affected by trisomy 18 ?,"Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.",GHR,trisomy 18 +What are the genetic changes related to trisomy 18 ?,"Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body's cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected. Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. People with this genetic change are said to have partial trisomy 18. If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.",GHR,trisomy 18 +Is trisomy 18 inherited ?,"Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body's cells. Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body's cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome. Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.",GHR,trisomy 18 +What are the treatments for trisomy 18 ?,These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,trisomy 18 +What is (are) sick sinus syndrome ?,"Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. ""Sick sinus"" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart. Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems. Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.",GHR,sick sinus syndrome +How many people are affected by sick sinus syndrome ?,Sick sinus syndrome accounts for 1 in 600 patients with heart disease who are over age 65. The incidence of this condition increases with age.,GHR,sick sinus syndrome +What are the genetic changes related to sick sinus syndrome ?,"Sick sinus syndrome can result from genetic or environmental factors. In many cases, the cause of the condition is unknown. Genetic changes are an uncommon cause of sick sinus syndrome. Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. These genes provide instructions for making proteins called ion channels that transport positively charged atoms (ions) into cardiac cells, including cells that make up the SA node. The flow of these ions is essential for creating the electrical impulses that start each heartbeat and coordinate contraction of the cardiac muscle. Mutations in these genes reduce the flow of ions, which alters the SA node's ability to create and spread electrical signals. These changes lead to abnormal heartbeats and the other symptoms of sick sinus syndrome. A particular variation in another gene, MYH6, appears to increase the risk of developing sick sinus syndrome. The protein produced from the MYH6 gene forms part of a larger protein called myosin, which generates the mechanical force needed for cardiac muscle to contract. Researchers believe that the MYH6 gene variation changes the structure of myosin, which can affect cardiac muscle contraction and increase the likelihood of developing an abnormal heartbeat. More commonly, sick sinus syndrome is caused by other factors that alter the structure or function of the SA node. These include a variety of heart conditions, other disorders such as muscular dystrophy, abnormal inflammation, or a shortage of oxygen (hypoxia). Certain medications, such as drugs given to treat abnormal heart rhythms or high blood pressure, can also disrupt SA node function. One of the most common causes of sick sinus syndrome in children is trauma to the SA node, such as damage that occurs during heart surgery. In older adults, sick sinus syndrome is often associated with age-related changes in the heart. Over time, the SA node may harden and develop scar-like damage (fibrosis) that prevents it from working properly.",GHR,sick sinus syndrome +Is sick sinus syndrome inherited ?,"Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. When sick sinus syndrome is caused by mutations in the SCN5A gene, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sick sinus syndrome +What are the treatments for sick sinus syndrome ?,"These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant - Genetic Testing Registry: Sick sinus syndrome 3, susceptibility to - National Heart Lung and Blood Institute: What Is a Pacemaker? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sick sinus syndrome +What is (are) infantile systemic hyalinosis ?,"Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. Infantile systemic hyalinosis is characterized by painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They also develop in joint creases and the genital region. These skin bumps may be large or small and often increase in number over time. Lumps of noncancerous tissue also form in the muscles and internal organs of children with infantile systemic hyalinosis, causing pain and severe complications. Most affected individuals develop a condition called protein-losing enteropathy due to the formation of lumps in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Infantile systemic hyalinosis is also characterized by overgrowth of the gums (gingival hypertrophy). Additionally, people with this condition have joint deformities (contractures) that impair movement. Affected individuals may grow slowly and have bone abnormalities. Although children with infantile systemic hyalinosis have severe physical limitations, mental development is typically normal. Affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.",GHR,infantile systemic hyalinosis +How many people are affected by infantile systemic hyalinosis ?,The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 people with this disorder have been reported.,GHR,infantile systemic hyalinosis +What are the genetic changes related to infantile systemic hyalinosis ?,"Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of infantile systemic hyalinosis are caused by the accumulation of a hyaline substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.",GHR,infantile systemic hyalinosis +Is infantile systemic hyalinosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,infantile systemic hyalinosis +What are the treatments for infantile systemic hyalinosis ?,"These resources address the diagnosis or management of infantile systemic hyalinosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome - MedlinePlus Encyclopedia: Protein-losing enteropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,infantile systemic hyalinosis +What is (are) autosomal recessive congenital methemoglobinemia ?,"Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis). There are two forms of autosomal recessive congenital methemoglobinemia: types I and II. People with type I have cyanosis from birth and may experience weakness or shortness of breath related to the shortage of oxygen in their tissues. People with type II have cyanosis as well as severe neurological problems. After a few months of apparently normal development, children with type II develop severe brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains small and does not grow in proportion with their body (microcephaly). People with type II have severe intellectual disability; they can recognize faces and usually babble but speak no words. They can sit unassisted and grip objects but have impaired motor skills that leave them unable to walk. In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead to feeding difficulties and further slow growth. People with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, but people with type II often do not survive past early adulthood.",GHR,autosomal recessive congenital methemoglobinemia +How many people are affected by autosomal recessive congenital methemoglobinemia ?,The incidence of autosomal recessive congenital methemoglobinemia is unknown.,GHR,autosomal recessive congenital methemoglobinemia +What are the genetic changes related to autosomal recessive congenital methemoglobinemia ?,"Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. Two versions (isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in red blood cells, and the membrane-bound isoform is found in all other cell types. Each hemoglobin molecule contains four iron atoms, which are needed to carry oxygen. In normal red blood cells, the iron in hemoglobin is ferrous (Fe2+), but it can spontaneously become ferric (Fe3+). When hemoglobin contains ferric iron, it is methemoglobin. The soluble isoform of cytochrome b5 reductase 3 changes ferric iron back to ferrous iron so hemoglobin can deliver oxygen to tissues. Normally, red blood cells contain less than 2 percent methemoglobin. The membrane-bound isoform is widely used in the body. This isoform is necessary for many chemical reactions, including the breakdown and formation of fatty acids, the formation of cholesterol, and the breakdown of various molecules and drugs. CYB5R3 gene mutations that cause autosomal recessive congenital methemoglobinemia type I typically reduce enzyme activity or stability. As a result, the enzyme cannot efficiently change ferric iron to ferrous iron, leading to a 10 to 50 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin reduces the amount of oxygen delivered to tissues. The altered enzyme activity affects only red blood cells because other cells can compensate for a decrease in enzyme activity, but red blood cells cannot. Mutations that cause autosomal recessive congenital methemoglobinemia type II usually result in a complete loss of enzyme activity. Cells cannot compensate for a complete loss of this enzyme, which results in a 10 to 70 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin leads to cyanosis. The lack of enzyme activity in other cells leads to the neurological features associated with type II. Researchers suspect that the neurological problems are caused by impaired fatty acid and cholesterol formation, which reduces the production of a fatty substance called myelin. Myelin insulates nerve cells and promotes the rapid transmission of nerve impulses. This reduced ability to form myelin (hypomyelination) leads to a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II.",GHR,autosomal recessive congenital methemoglobinemia +Is autosomal recessive congenital methemoglobinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive congenital methemoglobinemia +What are the treatments for autosomal recessive congenital methemoglobinemia ?,"These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia: - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I - Genetic Testing Registry: Methemoglobinemia type 2 - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autosomal recessive congenital methemoglobinemia +What is (are) periventricular heterotopia ?,"Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means ""out of place."" In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles. Periventricular heterotopia usually becomes evident when seizures first appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some people with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels.",GHR,periventricular heterotopia +How many people are affected by periventricular heterotopia ?,Periventricular heterotopia is a rare condition. Its incidence is unknown.,GHR,periventricular heterotopia +What are the genetic changes related to periventricular heterotopia ?,"Periventricular heterotopia is related to chromosome 5. Mutations in the ARFGEF2 and FLNA genes cause periventricular heterotopia. In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Certain mutations in the FLNA gene result in an impaired FLNA protein that cannot perform this function, disrupting the normal migration patterns of neurons during brain development. Periventricular heterotopia can also be caused by mutations in the ARFGEF2 gene. This gene provides instructions for making a protein that is involved in the movement (trafficking) of small sac-like structures (vesicles) within the cell. Vesicle trafficking is important in controlling the migration of neurons during the development of the brain. Mutations in the ARFGEF2 gene may disrupt this function, which could result in the abnormal neuronal migration seen in periventricular heterotopia. Researchers believe that mutations in the FLNA or ARFGEF2 genes may also result in weakening of the attachments (adhesion) between cells that form the lining of the ventricles. A weakened ventricular lining could allow some neurons to form clumps around the ventricles while others migrate normally to the exterior of the brain, as seen in periventricular heterotopia. In a few cases, periventricular heterotopia has been associated with abnormalities in chromosome 5. In each case, the affected individual had extra genetic material caused by an abnormal duplication of part of this chromosome. It is not known how this duplicated genetic material results in the signs and symptoms of periventricular heterotopia.",GHR,periventricular heterotopia +Is periventricular heterotopia inherited ?,"Periventricular heterotopia can have different inheritance patterns. When this condition is caused by mutations in the FLNA gene, it is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked periventricular heterotopia, males experience much more severe symptoms of the disorder than females, and in most cases die before birth. In about 50 percent of cases of X-linked periventricular heterotopia, an affected person inherits the mutation from a mother who is also affected. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Periventricular heterotopia caused by mutations in the ARFGEF2 gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Individuals with periventricular heterotopia in whom ARFGEF2 gene mutations have been identified have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.",GHR,periventricular heterotopia +What are the treatments for periventricular heterotopia ?,"These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, autosomal recessive - Genetic Testing Registry: X-linked periventricular heterotopia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,periventricular heterotopia +What is (are) Chanarin-Dorfman syndrome ?,"Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.",GHR,Chanarin-Dorfman syndrome +How many people are affected by Chanarin-Dorfman syndrome ?,Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown.,GHR,Chanarin-Dorfman syndrome +What are the genetic changes related to Chanarin-Dorfman syndrome ?,"Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome.",GHR,Chanarin-Dorfman syndrome +Is Chanarin-Dorfman syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Chanarin-Dorfman syndrome +What are the treatments for Chanarin-Dorfman syndrome ?,These resources address the diagnosis or management of Chanarin-Dorfman syndrome: - Genetic Testing Registry: Triglyceride storage disease with ichthyosis - MedlinePlus Encyclopedia: Ichthyosis vulgaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Chanarin-Dorfman syndrome +What is (are) Larsen syndrome ?,"Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). People with Larsen syndrome may also have an unusually large range of joint movement (hypermobility) and short stature. They can also have abnormal curvature of the spine (kyphosis or scoliosis) that may compress the spinal cord and lead to weakness of the limbs. Characteristic facial features include a prominent forehead (frontal bossing), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Some people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate) or hearing loss caused by malformations in the tiny bones in the ears (ossicles). Some affected individuals experience respiratory problems as a result of weakness of the airways that can lead to partial closing, short pauses in breathing (apnea), and frequent respiratory infections. People with Larsen syndrome can survive into adulthood and intelligence is unaffected.",GHR,Larsen syndrome +How many people are affected by Larsen syndrome ?,"Larsen syndrome occurs in approximately 1 in 100,000 newborns.",GHR,Larsen syndrome +What are the genetic changes related to Larsen syndrome ?,"Mutations in the FLNB gene cause Larsen syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause Larsen syndrome change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of Larsen syndrome.",GHR,Larsen syndrome +Is Larsen syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an FLNB mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism. A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by FLNB gene mutations.",GHR,Larsen syndrome +What are the treatments for Larsen syndrome ?,"These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Larsen syndrome +What is (are) carnitine palmitoyltransferase II deficiency ?,"Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months. The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.",GHR,carnitine palmitoyltransferase II deficiency +How many people are affected by carnitine palmitoyltransferase II deficiency ?,"CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases.",GHR,carnitine palmitoyltransferase II deficiency +What are the genetic changes related to carnitine palmitoyltransferase II deficiency ?,"Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and prepares them for fatty acid oxidation. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the CPT2 gene reduce the activity of carnitine palmitoyltransferase 2. Without enough of this enzyme, carnitine is not removed from long-chain fatty acids. As a result, these fatty acids cannot be metabolized to produce energy. Reduced energy production can lead to some of the features of CPT II deficiency, such as hypoketotic hypoglycemia, myalgia, and weakness. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.",GHR,carnitine palmitoyltransferase II deficiency +Is carnitine palmitoyltransferase II deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,carnitine palmitoyltransferase II deficiency +What are the treatments for carnitine palmitoyltransferase II deficiency ?,"These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,carnitine palmitoyltransferase II deficiency +What is (are) Bietti crystalline dystrophy ?,"Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.",GHR,Bietti crystalline dystrophy +How many people are affected by Bietti crystalline dystrophy ?,"Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disorders that progressively damage the retina.",GHR,Bietti crystalline dystrophy +What are the genetic changes related to Bietti crystalline dystrophy ?,"Bietti crystalline dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is involved in a multi-step process called fatty acid oxidation in which lipids are broken down and converted into energy, but the enzyme's specific function is not well understood. CYP4V2 gene mutations that cause Bietti crystalline dystrophy impair or eliminate the function of this enzyme and are believed to affect lipid breakdown. However, it is unknown how they lead to the specific signs and symptoms of Bietti crystalline dystrophy. For unknown reasons, the severity of the signs and symptoms differs significantly among individuals with the same CYP4V2 gene mutation.",GHR,Bietti crystalline dystrophy +Is Bietti crystalline dystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bietti crystalline dystrophy +What are the treatments for Bietti crystalline dystrophy ?,These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bietti crystalline dystrophy +What is (are) cold-induced sweating syndrome ?,"Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life. Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death. Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments. Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy.",GHR,cold-induced sweating syndrome +How many people are affected by cold-induced sweating syndrome ?,"Cold-induced sweating syndrome is a rare condition; its prevalence is unknown. The condition was first identified in the Sardinian population, but it has since been reported in regions worldwide.",GHR,cold-induced sweating syndrome +What are the genetic changes related to cold-induced sweating syndrome ?,"About 90 percent of cases of cold-induced sweating syndrome and Crisponi syndrome result from mutations in the CRLF1 gene. These cases are designated as CISS1. The remaining 10 percent of cases are caused by mutations in the CLCF1 gene and are designated as CISS2. The proteins produced from the CRLF1 and CLCF1 genes work together as part of a signaling pathway that is involved in the normal development of the nervous system. This pathway appears to be particularly important for the development and maintenance of motor neurons, which are nerve cells that control muscle movement. Studies suggest that this pathway also has a role in a part of the nervous system known as the sympathetic nervous system, specifically in the regulation of sweating in response to temperature changes and other factors. The proteins produced from the CRLF1 and CLCF1 genes appear to be critical for the normal development and maturation of nerve cells that control the activity of sweat glands. Additionally, the CRLF1 and CLCF1 genes likely have functions outside the nervous system, including roles in the body's inflammatory response and in bone development. However, little is known about their involvement in these processes. Mutations in either the CRLF1 or CLCF1 gene disrupt the normal development of several body systems, including the nervous system. The role of these genes in sympathetic nervous system development may help explain the abnormal sweating that is characteristic of this condition, including unusual sweating patterns and related problems with body temperature regulation. The involvement of these genes in motor neuron development and bone development provides clues to some of the other signs and symptoms of cold-induced sweating syndrome, including distinctive facial features, facial muscle weakness, and skeletal abnormalities. However, little is known about how CRLF1 or CLCF1 gene mutations underlie these other features of cold-induced sweating syndrome.",GHR,cold-induced sweating syndrome +Is cold-induced sweating syndrome inherited ?,"Cold-induced sweating syndrome is inherited in anautosomal recessive pattern, which means both copies of the CRLF1 or CLCF1 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cold-induced sweating syndrome +What are the treatments for cold-induced sweating syndrome ?,These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing Registry: Cold-induced sweating syndrome 2 - Merck Manual Consumer Version: Excessive Sweating These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cold-induced sweating syndrome +What is (are) spinal and bulbar muscular atrophy ?,"Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).",GHR,spinal and bulbar muscular atrophy +How many people are affected by spinal and bulbar muscular atrophy ?,"This condition affects fewer than 1 in 150,000 males and is very rare in females.",GHR,spinal and bulbar muscular atrophy +What are the genetic changes related to spinal and bulbar muscular atrophy ?,"Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat. Normally, this DNA segment is repeated up to about 36 times. In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. Researchers believe that a fragment of the androgen receptor protein containing the CAG segment accumulates within these cells and interferes with normal cell functions. The nerve cells gradually die, leading to the muscle weakness and wasting seen in this condition. People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age.",GHR,spinal and bulbar muscular atrophy +Is spinal and bulbar muscular atrophy inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females (who have two X chromosomes). Females with a mutation in one copy of the AR gene in each cell are typically unaffected. A few females with mutations in both copies of the gene have had mild features related to the condition, including muscle cramps and occasional tremors. Researchers believe that the milder signs and symptoms in females may be related to lower androgen levels. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,spinal and bulbar muscular atrophy +What are the treatments for spinal and bulbar muscular atrophy ?,These resources address the diagnosis or management of spinal and bulbar muscular atrophy: - Gene Review: Gene Review: Spinal and Bulbar Muscular Atrophy - Genetic Testing Registry: Bulbo-spinal atrophy X-linked - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinal and bulbar muscular atrophy +What is (are) Cowden syndrome ?,"Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.",GHR,Cowden syndrome +How many people are affected by Cowden syndrome ?,"Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.",GHR,Cowden syndrome +What are the genetic changes related to Cowden syndrome ?,"Changes involving at least four genes, PTEN, SDHB, SDHD, and KLLN, have been identified in people with Cowden syndrome or Cowden-like syndrome. Most cases of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. Mutations in the PTEN gene prevent the protein from regulating cell proliferation effectively, leading to uncontrolled cell division and the formation of hamartomas and cancerous tumors. The PTEN gene likely has other important functions within cells; however, it is unclear how mutations in this gene cause the other features of Cowden syndrome, such as macrocephaly and intellectual disability. Other cases of Cowden syndrome and Cowden-like syndrome result from changes involving the KLLN gene. This gene provides instructions for making a protein called killin. Like the protein produced from the PTEN gene, killin probably acts as a tumor suppressor. The genetic change that causes Cowden syndrome and Cowden-like syndrome is known as promoter hypermethylation. The promoter is a region of DNA near the gene that controls gene activity (expression). Hypermethylation occurs when too many small molecules called methyl groups are attached to the promoter region. The extra methyl groups reduce the expression of the KLLN gene, which means that less killin is produced. A reduced amount of killin may allow abnormal cells to survive and proliferate inappropriately, which can lead to the formation of tumors. A small percentage of people with Cowden syndrome or Cowden-like syndrome have variations in the SDHB or SDHD gene. These genes provide instructions for making parts of an enzyme called succinate dehydrogenase (SDH), which is important for energy production in the cell. This enzyme also plays a role in signaling pathways that regulate cell survival and proliferation. Variations in the SDHB or SDHD gene alter the function of the SDH enzyme. Studies suggest that the defective enzyme may allow cells to grow and divide unchecked, leading to the formation of hamartomas and cancerous tumors. However, researchers are uncertain whether the identified SDHB and SDHD gene variants are directly associated with Cowden syndrome and Cowden-like syndrome. Some of the variants described above have also been identified in people without the features of these conditions. When Cowden syndrome and Cowden-like syndrome are not related to changes in the PTEN, SDHB, SDHD, or KLLN genes, the cause of the conditions is unknown.",GHR,Cowden syndrome +Is Cowden syndrome inherited ?,"Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,Cowden syndrome +What are the treatments for Cowden syndrome ?,These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry: Cowden syndrome 2 - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes - University of Iowa: Are Tests for Cowden Syndrome Available? - University of Iowa: How is Cowden Syndrome Diagnosed? - University of Iowa: What Should I Be Doing About This Condition? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cowden syndrome +What is (are) Kabuki syndrome ?,"Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki. People with Kabuki syndrome have developmental delay and intellectual disability that range from mild to severe. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth. A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.",GHR,Kabuki syndrome +How many people are affected by Kabuki syndrome ?,"Kabuki syndrome occurs in approximately 1 in 32,000 newborns.",GHR,Kabuki syndrome +What are the genetic changes related to Kabuki syndrome ?,"Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. Between 55 and 80 percent of cases of Kabuki syndrome are caused by mutations in the KMT2D gene. This gene provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes. Lysine-specific methyltransferase 2D appears to activate certain genes that are important for development. About 6 percent of cases of Kabuki syndrome are caused by mutations in the KDM6A gene. This gene provides instructions for making an enzyme called lysine-specific demethylase 6A. This enzyme is a histone demethylase, which means that it helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, lysine-specific demethylase 6A regulates the activity of certain genes, and research suggests that the two enzymes work together to control certain developmental processes. The KMT2D and KDM6A gene mutations associated with Kabuki syndrome lead to the absence of the corresponding functional enzyme. A lack of the enzymes produced from these genes disrupts normal histone methylation and impairs proper activation of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kabuki syndrome. Some people with Kabuki syndrome have no identified KMT2D or KDM6A gene mutation. The cause of the disorder in these individuals is unknown.",GHR,Kabuki syndrome +Is Kabuki syndrome inherited ?,"When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. The KDM6A gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kabuki syndrome result from a new mutation in one of these genes and occur in people with no history of the disorder in their family. In a few cases, an affected person is believed to have inherited the mutation from one affected parent.",GHR,Kabuki syndrome +What are the treatments for Kabuki syndrome ?,These resources address the diagnosis or management of Kabuki syndrome: - Boston Children's Hospital - Gene Review: Gene Review: Kabuki Syndrome - Genetic Testing Registry: Kabuki make-up syndrome - Genetic Testing Registry: Kabuki syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kabuki syndrome +What is (are) familial glucocorticoid deficiency ?,"Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive). If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. Other features of familial glucocorticoid deficiency can include recurrent infections and skin coloring darker than that of other family members (hyperpigmentation). There are multiple types of familial glucocorticoid deficiency, which are distinguished by their genetic cause.",GHR,familial glucocorticoid deficiency +How many people are affected by familial glucocorticoid deficiency ?,The prevalence of familial glucocorticoid deficiency is unknown.,GHR,familial glucocorticoid deficiency +What are the genetic changes related to familial glucocorticoid deficiency ?,"Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition. The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, which is found primarily in the adrenal glands. The protein produced from the MRAP gene transports the ACTH receptor from the interior of the cell to the cell membrane. When the ACTH receptor is embedded within the cell membrane, it is turned on (activated) by the MRAP protein. Activated ACTH receptor can then attach (bind) to ACTH, and this binding triggers the adrenal glands to produce glucocorticoids. MC2R gene mutations lead to the production of a receptor that cannot be transported to the cell membrane or, if it does get to the cell membrane, cannot bind to ACTH. MRAP gene mutations impair the transport of the ACTH receptor to the cell membrane. Without the binding of the ACTH receptor to its hormone, there is no signal to trigger the adrenal glands to produce glucocorticoids. The NNT gene provides instructions for making an enzyme called nicotinamide nucleotide transhydrogenase. This enzyme is found embedded in the inner membrane of structures called mitochondria, which are the energy-producing centers of cells. This enzyme helps produce a substance called NADPH, which is involved in removing potentially toxic molecules called reactive oxygen species that can damage DNA, proteins, and cell membranes. NNT gene mutations impair the enzyme's ability to produce NADPH, leading to an increase in reactive oxygen species in adrenal gland tissues. Over time, these toxic molecules can impair the function of adrenal gland cells and lead to their death (apoptosis), diminishing the production of glucocorticoids.",GHR,familial glucocorticoid deficiency +Is familial glucocorticoid deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,familial glucocorticoid deficiency +What are the treatments for familial glucocorticoid deficiency ?,"These resources address the diagnosis or management of familial glucocorticoid deficiency: - Genetic Testing Registry: ACTH resistance - Genetic Testing Registry: Glucocorticoid deficiency 2 - Genetic Testing Registry: Glucocorticoid deficiency 3 - Genetic Testing Registry: Glucocorticoid deficiency 4 - Genetic Testing Registry: Natural killer cell deficiency, familial isolated These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial glucocorticoid deficiency +What is (are) Walker-Warburg syndrome ?,"Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3. Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as ""floppy."" The muscle weakness worsens over time. Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). They may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of other parts of the brain, including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals.",GHR,Walker-Warburg syndrome +How many people are affected by Walker-Warburg syndrome ?,"Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.",GHR,Walker-Warburg syndrome +What are the genetic changes related to Walker-Warburg syndrome ?,"Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. The -dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, the anchoring function of -dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development. Mutations in these genes prevent glycosylation of -dystroglycan, which disrupts its normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness of the skeletal muscles. Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is known about the effects of the gene mutations in other parts of the body, including the eyes. Mutations in the POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE genes are found in only about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are likely involved in the development of this condition. Because Walker-Warburg syndrome involves a malfunction of -dystroglycan, this condition is classified as a dystroglycanopathy.",GHR,Walker-Warburg syndrome +Is Walker-Warburg syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Walker-Warburg syndrome +What are the treatments for Walker-Warburg syndrome ?,These resources address the diagnosis or management of Walker-Warburg syndrome: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Walker-Warburg syndrome +What is (are) Wolman disease ?,"Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen. Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.",GHR,Wolman disease +How many people are affected by Wolman disease ?,"Wolman disease is estimated to occur in 1 in 350,000 newborns.",GHR,Wolman disease +What are the genetic changes related to Wolman disease ?,"Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body. Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.",GHR,Wolman disease +Is Wolman disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Wolman disease +What are the treatments for Wolman disease ?,These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wolman disease +What is (are) glycogen storage disease type VI ?,Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver. The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). Affected individuals may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the body (lactic acidosis) during prolonged periods without food (fasting). The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.,GHR,glycogen storage disease type VI +How many people are affected by glycogen storage disease type VI ?,"The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, with an estimated incidence of 1 in 1,000 individuals.",GHR,glycogen storage disease type VI +What are the genetic changes related to glycogen storage disease type VI ?,"Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body. PYGL gene mutations prevent liver glycogen phosphorylase from breaking down glycogen effectively. As a result, liver cells cannot use glycogen for energy. Since glycogen cannot be broken down, it accumulates within liver cells, causing these cells to become enlarged and dysfunctional.",GHR,glycogen storage disease type VI +Is glycogen storage disease type VI inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type VI +What are the treatments for glycogen storage disease type VI ?,"These resources address the diagnosis or management of glycogen storage disease type VI: - Gene Review: Gene Review: Glycogen Storage Disease Type VI - Genetic Testing Registry: Glycogen storage disease, type VI These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,glycogen storage disease type VI +What is (are) guanidinoacetate methyltransferase deficiency ?,"Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.",GHR,guanidinoacetate methyltransferase deficiency +How many people are affected by guanidinoacetate methyltransferase deficiency ?,"Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin.",GHR,guanidinoacetate methyltransferase deficiency +What are the genetic changes related to guanidinoacetate methyltransferase deficiency ?,"Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly. GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.",GHR,guanidinoacetate methyltransferase deficiency +Is guanidinoacetate methyltransferase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,guanidinoacetate methyltransferase deficiency +What are the treatments for guanidinoacetate methyltransferase deficiency ?,These resources address the diagnosis or management of guanidinoacetate methyltransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Deficiency of guanidinoacetate methyltransferase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,guanidinoacetate methyltransferase deficiency +What is (are) enlarged parietal foramina ?,"Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.",GHR,enlarged parietal foramina +How many people are affected by enlarged parietal foramina ?,"The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals.",GHR,enlarged parietal foramina +What are the genetic changes related to enlarged parietal foramina ?,"Mutations in the ALX4 gene account for 60 percent of cases of enlarged parietal foramina and mutations in the MSX2 gene account for 40 percent of cases. These genes provide instructions for producing proteins called transcription factors, which are required for proper development throughout the body. Transcription factors attach (bind) to specific regions of DNA and help control the activity of particular genes. The ALX4 and MSX2 transcription factor proteins are involved in regulating genes that are needed in various cell processes in early development. Mutations in either the ALX4 or MSX2 gene likely impair the ability of their respective transcription factors to bind to DNA. As a result, the regulation of multiple genes is altered, which disrupts a number of necessary cell functions. The processes that guide skull development seem to be particularly sensitive to changes in the activity of these transcription factors. If the condition is caused by a mutation in the MSX2 gene, it is called enlarged parietal foramina type 1. Mutations in the ALX4 gene cause enlarged parietal foramina type 2. There appears to be no difference in the size of the openings between enlarged parietal foramina types 1 and 2.",GHR,enlarged parietal foramina +Is enlarged parietal foramina inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. However, in rare cases, people who inherit an altered gene do not have enlarged parietal foramina. (This situation is known as reduced penetrance.)",GHR,enlarged parietal foramina +What are the treatments for enlarged parietal foramina ?,These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull of a Newborn These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,enlarged parietal foramina +What is (are) osteogenesis imperfecta ?,"Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term ""osteogenesis imperfecta"" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include blue sclerae, short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.",GHR,osteogenesis imperfecta +How many people are affected by osteogenesis imperfecta ?,"This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 to 5 per 100,000 people.",GHR,osteogenesis imperfecta +What are the genetic changes related to osteogenesis imperfecta ?,"Mutations in the COL1A1, COL1A2, CRTAP, and P3H1 genes cause osteogenesis imperfecta. Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body. Most of the mutations that cause osteogenesis imperfecta type I occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. The mutations responsible for most cases of osteogenesis imperfecta types II, III, and IV occur in either the COL1A1 or COL1A2 gene. These mutations typically alter the structure of type I collagen molecules. A defect in the structure of type I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of osteogenesis imperfecta. Mutations in the CRTAP and P3H1 genes are responsible for rare, often severe cases of osteogenesis imperfecta. Cases caused by CRTAP mutations are usually classified as type VII; when P3H1 mutations underlie the condition, it is classified as type VIII. The proteins produced from these genes work together to process collagen into its mature form. Mutations in either gene disrupt the normal folding, assembly, and secretion of collagen molecules. These defects weaken connective tissues, leading to severe bone abnormalities and problems with growth. In cases of osteogenesis imperfecta without identified mutations in one of the genes described above, the cause of the disorder is unknown. These cases include osteogenesis imperfecta types V and VI. Researchers are working to identify additional genes that may be responsible for these conditions.",GHR,osteogenesis imperfecta +Is osteogenesis imperfecta inherited ?,"Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of osteogenesis imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of osteogenesis imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When osteogenesis imperfecta is caused by mutations in the CRTAP or P3H1 gene, the condition also has an autosomal recessive pattern of inheritance.",GHR,osteogenesis imperfecta +What are the treatments for osteogenesis imperfecta ?,"These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta type 5 - Genetic Testing Registry: Osteogenesis imperfecta type 6 - Genetic Testing Registry: Osteogenesis imperfecta type 7 - Genetic Testing Registry: Osteogenesis imperfecta type 8 - Genetic Testing Registry: Osteogenesis imperfecta type I - Genetic Testing Registry: Osteogenesis imperfecta type III - Genetic Testing Registry: Osteogenesis imperfecta with normal sclerae, dominant form - Genetic Testing Registry: Osteogenesis imperfecta, recessive perinatal lethal - MedlinePlus Encyclopedia: Osteogenesis Imperfecta These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,osteogenesis imperfecta +What is (are) dystonia 6 ?,"Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.",GHR,dystonia 6 +How many people are affected by dystonia 6 ?,"The prevalence of dystonia 6 is unknown. Studies indicate that it likely accounts for between 1 and 3 percent of all cases of dystonia. For reasons that are unclear, the disorder appears to be slightly more prevalent in females than in males.",GHR,dystonia 6 +What are the genetic changes related to dystonia 6 ?,"Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in the body, including the growth and division (proliferation) of endothelial cells, which line the inside surface of blood vessels and other circulatory system structures called lymphatic vessels. The THAP1 protein also plays a role in the self-destruction of cells that are no longer needed (apoptosis). Studies indicate that most of the THAP1 gene mutations that cause dystonia 6 affect the stability of the THAP1 protein, reducing the amount of functional THAP1 protein available for DNA binding. Other mutations may impair the protein's ability to bind with the correct regions of DNA. Problems with DNA binding likely disrupt the proper regulation of gene activity, leading to the signs and symptoms of dystonia 6. A particular THAP1 gene mutation is specific to a Mennonite population in the Midwestern United States in which dystonia 6 was first described. This mutation changes the DNA sequence in a region of the gene known as exon 2. Some researchers use the term DYT6 dystonia to refer to dystonia caused by this particular mutation, and the broader term THAP1 dystonia to refer to dystonia caused by any THAP1 gene mutation. In general, mutations affecting the region of the THAP1 protein that binds to DNA, including the mutation found in the Mennonite population, tend to result in more severe signs and symptoms than mutations affecting other regions of the protein.",GHR,dystonia 6 +Is dystonia 6 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. Some people who inherit the altered gene never develop the condition, a situation known as reduced penetrance.",GHR,dystonia 6 +What are the treatments for dystonia 6 ?,"These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,dystonia 6 +"What is (are) Ohdo syndrome, Maat-Kievit-Brunner type ?","The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems. Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular. Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.",GHR,"Ohdo syndrome, Maat-Kievit-Brunner type" +"How many people are affected by Ohdo syndrome, Maat-Kievit-Brunner type ?","The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, with only a few affected individuals reported in the medical literature.",GHR,"Ohdo syndrome, Maat-Kievit-Brunner type" +"What are the genetic changes related to Ohdo syndrome, Maat-Kievit-Brunner type ?","The Maat-Kievit-Brunner type of Ohdo syndrome results from mutations in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is thought to play an essential role in development both before and after birth. The MED12 gene mutations that cause this condition alter the structure of the MED12 protein, impairing its ability to control gene activity. It is unclear how these changes lead to the particular cognitive and physical features of the Maat-Kievit-Brunner type of Ohdo syndrome.",GHR,"Ohdo syndrome, Maat-Kievit-Brunner type" +"Is Ohdo syndrome, Maat-Kievit-Brunner type inherited ?","This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with only one altered copy of the gene in each cell are called carriers. They do not usually experience health problems related to the condition, but they can pass the mutation to their children. Sons who inherit the altered gene will have the condition, while daughters who inherit the altered gene will be carriers. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,"Ohdo syndrome, Maat-Kievit-Brunner type" +"What are the treatments for Ohdo syndrome, Maat-Kievit-Brunner type ?","These resources address the diagnosis or management of Ohdo syndrome, Maat-Kievit-Brunner type: - Genetic Testing Registry: Ohdo syndrome, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"Ohdo syndrome, Maat-Kievit-Brunner type" +What is (are) epidermal nevus ?,"An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. There are several types of epidermal nevi that are defined in part by the type of skin cell involved. The epidermis is the outermost layer of skin and is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved.",GHR,epidermal nevus +How many people are affected by epidermal nevus ?,"Epidermal nevi affect approximately 1 in 1,000 people.",GHR,epidermal nevus +What are the genetic changes related to epidermal nevus ?,"Mutations in the FGFR3 gene have been found in approximately 30 percent of people with a type of nevus in the keratinocytic epidermal nevi group. The gene mutations involved in most epidermal nevi are unknown. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it. Because the mutation is found in some of the body's cells but not in others, people with an epidermal nevus are said to be mosaic for the mutation. The FGFR3 gene provides instructions for the fibroblast growth factor receptor 3 (FGFR3) protein. This protein is involved in several important cellular processes, including regulation of growth and division of skin cells. The FGFR3 protein interacts with specific growth factors outside the cell to receive signals that control growth and development. When these growth factors attach to the FGFR3 protein, the protein is turned on (activated), which triggers a cascade of chemical reactions inside the cell that control growth and other cellular functions. The most common FGFR3 gene mutation in epidermal nevi creates a protein that is turned on without attachment of a growth factor, which means that the FGFR3 protein is constantly active. Cells with a mutated FGFR3 gene grow and divide more than normal cells. In addition, these mutated cells do not undergo a form of self-destruction called apoptosis as readily as normal cells. These effects result in overgrowth of skin cells, leading to epidermal nevi.",GHR,epidermal nevus +Is epidermal nevus inherited ?,"This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation. Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mutation is found in every cell in the body, which results in skeletal abnormalities rather than epidermal nevus.",GHR,epidermal nevus +What are the treatments for epidermal nevus ?,These resources address the diagnosis or management of epidermal nevus: - Genetic Testing Registry: Epidermal nevus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,epidermal nevus +What is (are) infantile-onset ascending hereditary spastic paralysis ?,"Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types involve additional areas of the nervous system, affecting the upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, but as the disorder progresses, the muscles in the arms, neck, and head become involved and features of the disorder are more characteristic of the complicated type. Affected infants are typically normal at birth, then within the first 2 years of life, the initial symptoms of infantile-onset ascending hereditary spastic paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. Muscles in the head and neck usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing. Affected individuals may lose the ability to speak (anarthria). The leg and arm muscle weakness can become so severe as to lead to paralysis; as a result affected individuals require wheelchair assistance by late childhood or early adolescence. Intelligence is not affected in this condition. A condition called juvenile primary lateral sclerosis shares many of the features of infantile-onset ascending hereditary spastic paralysis. Both conditions have the same genetic cause and significantly impair movement beginning in childhood; however, the pattern of nerve degeneration is different. Because of their similarities, these conditions are sometimes considered the same disorder.",GHR,infantile-onset ascending hereditary spastic paralysis +How many people are affected by infantile-onset ascending hereditary spastic paralysis ?,"Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with at least 30 cases reported in the scientific literature.",GHR,infantile-onset ascending hereditary spastic paralysis +What are the genetic changes related to infantile-onset ascending hereditary spastic paralysis ?,"Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the ALS2 gene. This gene provides instructions for making the alsin protein. Alsin is produced in a wide range of tissues, with highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in several cell processes. The GTPases that are activated by alsin are involved in the proper placement of the various proteins and fats that make up the cell membrane, the transport of molecules from the cell membrane to the interior of the cell (endocytosis), and the development of specialized structures called axons and dendrites that project from neurons and are essential for the transmission of nerve impulses. Mutations in the ALS2 gene alter the instructions for making alsin, often resulting in the production of an abnormally short alsin protein that is unstable and rapidly broken down. It is unclear exactly how ALS2 gene mutations cause infantile-onset ascending hereditary spastic paralysis. Research suggests that a lack of alsin and the subsequent loss of GTPase functions, such as endocytosis and the development of axons and dendrites, contribute to the progressive atrophy of motor neurons that is characteristic of this condition.",GHR,infantile-onset ascending hereditary spastic paralysis +Is infantile-onset ascending hereditary spastic paralysis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,infantile-onset ascending hereditary spastic paralysis +What are the treatments for infantile-onset ascending hereditary spastic paralysis ?,These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,infantile-onset ascending hereditary spastic paralysis +What is (are) Pelizaeus-Merzbacher disease ?,"Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Pelizaeus-Merzbacher disease is caused by an inability to form myelin (dysmyelination). As a result, individuals with this condition have impaired intellectual functions, such as language and memory, and delayed motor skills, such as coordination and walking. Typically, motor skills are more severely affected than intellectual function; motor skills development tends to occur more slowly and usually stops in a person's teens, followed by gradual deterioration. Pelizaeus-Merzbacher disease is divided into classic and connatal types. Although these two types differ in severity, their features can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills such as crawling or walking. As the child gets older, nystagmus usually stops but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), and involuntary jerking (choreiform movements). Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms can begin in infancy and include problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures. Those affected with connatal Pelizaeus-Merzbacher disease show little development of motor skills and intellectual function.",GHR,Pelizaeus-Merzbacher disease +How many people are affected by Pelizaeus-Merzbacher disease ?,"The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 males in the United States. This condition rarely affects females.",GHR,Pelizaeus-Merzbacher disease +What are the genetic changes related to Pelizaeus-Merzbacher disease ?,"Mutations in the PLP1 gene cause Pelizaeus-Merzbacher disease. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown.",GHR,Pelizaeus-Merzbacher disease +Is Pelizaeus-Merzbacher disease inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.",GHR,Pelizaeus-Merzbacher disease +What are the treatments for Pelizaeus-Merzbacher disease ?,These resources address the diagnosis or management of Pelizaeus-Merzbacher disease: - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Pelizaeus-Merzbacher disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pelizaeus-Merzbacher disease +What is (are) arginine:glycine amidinotransferase deficiency ?,"Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.",GHR,arginine:glycine amidinotransferase deficiency +How many people are affected by arginine:glycine amidinotransferase deficiency ?,The prevalence of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families.,GHR,arginine:glycine amidinotransferase deficiency +What are the genetic changes related to arginine:glycine amidinotransferase deficiency ?,"Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, arginine:glycine amidinotransferase controls the first step of the process. In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy properly. GATM gene mutations impair the ability of the arginine:glycine amidinotransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of arginine:glycine amidinotransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.",GHR,arginine:glycine amidinotransferase deficiency +Is arginine:glycine amidinotransferase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,arginine:glycine amidinotransferase deficiency +What are the treatments for arginine:glycine amidinotransferase deficiency ?,These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,arginine:glycine amidinotransferase deficiency +What is (are) Pendred syndrome ?,"Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation. An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation. Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.",GHR,Pendred syndrome +How many people are affected by Pendred syndrome ?,"The prevalence of Pendred syndrome is unknown. However, researchers estimate that it accounts for 7 to 8 percent of all hearing loss that is present from birth (congenital hearing loss).",GHR,Pendred syndrome +What are the genetic changes related to Pendred syndrome ?,"Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin is not fully understood, this protein is important for maintaining the proper levels of ions in the thyroid and the inner ear. Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts ion transport. An imbalance of particular ions disrupts the development and function of the thyroid gland and structures in the inner ear, which leads to the characteristic features of Pendred syndrome. In people with Pendred syndrome who do not have mutations in the SLC26A4 gene, the cause of the condition is unknown. Researchers suspect that other genetic and environmental factors may influence the condition.",GHR,Pendred syndrome +Is Pendred syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Pendred syndrome +What are the treatments for Pendred syndrome ?,"These resources address the diagnosis or management of Pendred syndrome: - Children's Hospital of Philadelphia, Center for Childhood Communication - Gene Review: Gene Review: Pendred Syndrome/DFNB4 - Genetic Testing Registry: Pendred's syndrome - MedlinePlus Encyclopedia: Goiter - MedlinePlus Encyclopedia: Hearing Loss These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Pendred syndrome +What is (are) Poland syndrome ?,"Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured. Mild cases of Poland syndrome without hand involvement may not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become more apparent. By contrast, severely affected individuals have abnormalities of the chest, hand, or both that are apparent at birth. In rare cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or the heart is abnormally located in the right side of the chest (dextrocardia). Rarely, chest and hand abnormalities resembling those of Poland syndrome occur on both sides of the body, but researchers disagree as to whether this condition is a variant of Poland syndrome or a different disorder.",GHR,Poland syndrome +How many people are affected by Poland syndrome ?,"Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention.",GHR,Poland syndrome +What are the genetic changes related to Poland syndrome ?,"The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on each side of the body. The arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand on their respective sides. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder. Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.",GHR,Poland syndrome +Is Poland syndrome inherited ?,"Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found.",GHR,Poland syndrome +What are the treatments for Poland syndrome ?,These resources address the diagnosis or management of Poland syndrome: - Children's Medical Center of Dallas - Great Ormond Street Hospital (UK): Treatment Options for Symbrachydactyly - St. Louis Children's Hospital: Chest Wall Deformities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Poland syndrome +What is (are) ataxia neuropathy spectrum ?,"Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement. Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.",GHR,ataxia neuropathy spectrum +How many people are affected by ataxia neuropathy spectrum ?,The prevalence of ataxia neuropathy spectrum is unknown.,GHR,ataxia neuropathy spectrum +What are the genetic changes related to ataxia neuropathy spectrum ?,"Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. Pol and Twinkle function in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol and Twinkle are both integral to the process of DNA replication by which new copies of mtDNA are produced. Mutated pol or mutated Twinkle reduce mtDNA replication. Although the mechanisms are unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), and mutations in the C10orf2 gene often result in deletions of large regions of mtDNA (mtDNA deletion). MtDNA depletion or deletion occurs most commonly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of ataxia neuropathy spectrum. It is unclear what role mtDNA deletions play in the signs and symptoms of the condition.",GHR,ataxia neuropathy spectrum +Is ataxia neuropathy spectrum inherited ?,"Ataxia neuropathy spectrum can have different inheritance patterns depending on the associated gene. Mutations in the POLG gene cause a form of the condition that is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Mutations in the C10orf2 gene cause a form of the condition that is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,ataxia neuropathy spectrum +What are the treatments for ataxia neuropathy spectrum ?,"These resources address the diagnosis or management of ataxia neuropathy spectrum: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - National Ataxia Foundation: Gene Testing for Hereditary Ataxia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,ataxia neuropathy spectrum +What is (are) Mabry syndrome ?,"Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time. Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome. Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss. The signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.",GHR,Mabry syndrome +How many people are affected by Mabry syndrome ?,"Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature.",GHR,Mabry syndrome +What are the genetic changes related to Mabry syndrome ?,"Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer surface of the cell membrane, ensuring that they are available when needed. Alkaline phosphatase is an example of a protein that is bound to the cell membrane by a GPI anchor. The proteins produced from the PIGV and PIGO genes are involved in piecing together the GPI anchor. After the complete GPI anchor is attached to a protein, the protein produced from the PGAP2 gene adjusts the anchor to enhance the anchor's ability to bind to the cell membrane. Mutations in the PIGV, PIGO, or PGAP2 gene result in the production of an incomplete GPI anchor that cannot attach to proteins or to cell membranes. Proteins lacking a functional GPI anchor cannot bind to the cell membrane and are instead released from the cell. The release of non-GPI anchored alkaline phosphatase elevates the amount of this protein in the blood, causing hyperphosphatasia in people with Mabry syndrome. It is unclear how gene mutations lead to the other features of Mabry syndrome, but these signs and symptoms are likely due to a lack of proper GPI anchoring of proteins. PIGV gene mutations are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases. Mutations in the PIGO and PGAP2 genes are responsible for a small proportion of Mabry syndrome. The remaining affected individuals do not have an identified mutation in any of these three genes; the cause of the condition in these individuals is unknown.",GHR,Mabry syndrome +Is Mabry syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Mabry syndrome +What are the treatments for Mabry syndrome ?,These resources address the diagnosis or management of Mabry syndrome: - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 2 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 3 - MedlinePlus Encyclopedia: ALP Isoenzyme Test - MedlinePlus Encyclopedia: ALP--Blood Test - Seattle Children's Hospital: Hirschsprung's Disease--Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Mabry syndrome +What is (are) anhidrotic ectodermal dysplasia with immune deficiency ?,"Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth. Skin abnormalities in people with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most people with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. The immune deficiency in EDA-ID varies among people with this condition. People with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for people with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections. People with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and GI tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis. The life expectancy of affected individuals depends of the severity of the immune deficiency; most people with this condition do not live past childhood. There are two forms of this condition that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.",GHR,anhidrotic ectodermal dysplasia with immune deficiency +How many people are affected by anhidrotic ectodermal dysplasia with immune deficiency ?,"The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature.",GHR,anhidrotic ectodermal dysplasia with immune deficiency +What are the genetic changes related to anhidrotic ectodermal dysplasia with immune deficiency ?,"Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity of other genes, including genes that direct the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis). The IKBKG and NFKBIA gene mutations responsible for EDA-ID result in the production of proteins with impaired function, which reduces activation of nuclear factor-kappa-B. These changes disrupt certain signaling pathways within immune cells, resulting in immune deficiency. It is unclear how gene mutations alter the development of the skin, teeth, sweat glands, and other tissues, although it is likely caused by abnormal nuclear factor-kappa-B signaling in other types of cells.",GHR,anhidrotic ectodermal dysplasia with immune deficiency +Is anhidrotic ectodermal dysplasia with immune deficiency inherited ?,"When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of the IKBKG gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When EDA-ID is caused by mutations in the NFKBIA gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,anhidrotic ectodermal dysplasia with immune deficiency +What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ?,These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,anhidrotic ectodermal dysplasia with immune deficiency +What is (are) hypophosphatasia ?,"Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding. The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases. The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation. The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia.",GHR,hypophosphatasia +How many people are affected by hypophosphatasia ?,"Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. Milder cases, such as those that appear in childhood or adulthood, probably occur more frequently. Hypophosphatasia has been reported worldwide in people of various ethnic backgrounds. This condition appears to be most common in white populations. It is particularly frequent in a Mennonite population in Manitoba, Canada, where about 1 in 2,500 infants is born with severe features of the condition.",GHR,hypophosphatasia +What are the genetic changes related to hypophosphatasia ?,"Mutations in the ALPL gene cause hypophosphatasia. The ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays an essential role in mineralization of the skeleton and teeth. Mutations in the ALPL gene lead to the production of an abnormal version of alkaline phosphatase that cannot participate effectively in the mineralization process. A shortage of alkaline phosphatase allows several other substances, which are normally processed by the enzyme, to build up abnormally in the body. Researchers believe that a buildup of one of these compounds, inorganic pyrophosphate (PPi), underlies the defective mineralization of bones and teeth in people with hypophosphatasia. ALPL mutations that almost completely eliminate the activity of alkaline phosphatase usually result in the more severe forms of hypophosphatasia. Other mutations, which reduce but do not eliminate the activity of the enzyme, are often responsible for milder forms of the condition.",GHR,hypophosphatasia +Is hypophosphatasia inherited ?,"The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder. Milder forms of hypophosphatasia can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hypophosphatasia +What are the treatments for hypophosphatasia ?,These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: Hypophosphatasia - Genetic Testing Registry: Infantile hypophosphatasia - MedlinePlus Encyclopedia: Osteomalacia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypophosphatasia +What is (are) central core disease ?,"Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear ""floppy"" and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (hypotonia) and serious or life-threatening breathing problems. Central core disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis), hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Central core disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.",GHR,central core disease +How many people are affected by central core disease ?,"Central core disease is probably an uncommon condition, although its incidence is unknown.",GHR,central core disease +What are the genetic changes related to central core disease ?,"Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move. Mutations in the RYR1 gene change the structure of ryanodine receptor 1, allowing calcium ions to ""leak"" through the abnormal channel or impairing the channel's ability to release stored calcium ions at the correct time. This disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of central core disease.",GHR,central core disease +Is central core disease inherited ?,"Central core disease is most often inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Less commonly, central core disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. People who carry one mutated copy of the RYR1 gene, however, may be at increased risk for malignant hyperthermia.",GHR,central core disease +What are the treatments for central core disease ?,These resources address the diagnosis or management of central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,central core disease +What is (are) alkaptonuria ?,"Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.",GHR,alkaptonuria +How many people are affected by alkaptonuria ?,"This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.",GHR,alkaptonuria +What are the genetic changes related to alkaptonuria ?,"Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.",GHR,alkaptonuria +Is alkaptonuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,alkaptonuria +What are the treatments for alkaptonuria ?,These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,alkaptonuria +What is (are) CHMP2B-related frontotemporal dementia ?,"CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms. Changes in personality and behavior are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living. Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate. Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk.",GHR,CHMP2B-related frontotemporal dementia +How many people are affected by CHMP2B-related frontotemporal dementia ?,CHMP2B-related frontotemporal dementia has been reported in one large family in Denmark and a few unrelated individuals from other countries. This disease appears to be a rare form of frontotemporal dementia.,GHR,CHMP2B-related frontotemporal dementia +What are the genetic changes related to CHMP2B-related frontotemporal dementia ?,"CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded). Mutations in the CHMP2B gene lead to the production of an abnormal version of charged multivesicular body protein 2B. Most of the mutations that cause CHMP2B-related frontotemporal dementia result in the production of an abnormal protein that is missing a critical segment at one end. This segment keeps the protein turned off (inactive) when it is not needed. Without this segment, the protein is constantly turned on (active), which disrupts the transport and degradation of other proteins. These abnormalities ultimately lead to the death of nerve cells (neurons) in the brain. A gradual loss of neurons throughout the brain is characteristic of CHMP2B-related frontotemporal dementia. Many of the features of this disease result from neuronal death in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. It is unclear why the signs and symptoms of this disease are related primarily to the frontal and temporal lobes.",GHR,CHMP2B-related frontotemporal dementia +Is CHMP2B-related frontotemporal dementia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,CHMP2B-related frontotemporal dementia +What are the treatments for CHMP2B-related frontotemporal dementia ?,"These resources address the diagnosis or management of CHMP2B-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: Frontotemporal Dementia, Chromosome 3-Linked - Genetic Testing Registry: Frontotemporal Dementia, Chromosome 3-Linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,CHMP2B-related frontotemporal dementia +What is (are) Mowat-Wilson syndrome ?,"Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities. Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking. More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson syndrome who have not been diagnosed with Hirschsprung disease. Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every individual with this condition has all of these features.",GHR,Mowat-Wilson syndrome +How many people are affected by Mowat-Wilson syndrome ?,The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature.,GHR,Mowat-Wilson syndrome +What are the genetic changes related to Mowat-Wilson syndrome ?,"Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from a loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.",GHR,Mowat-Wilson syndrome +Is Mowat-Wilson syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Mowat-Wilson syndrome +What are the treatments for Mowat-Wilson syndrome ?,These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Mowat-Wilson syndrome +What is (are) molybdenum cofactor deficiency ?,"Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as ""coarse."" Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood. Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.",GHR,molybdenum cofactor deficiency +How many people are affected by molybdenum cofactor deficiency ?,"Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher.",GHR,molybdenum cofactor deficiency +What are the genetic changes related to molybdenum cofactor deficiency ?,"Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type B, and GPHN gene mutations cause type C. The proteins produced from each of these genes are involved in the formation (biosynthesis) of a molecule called molybdenum cofactor. Molybdenum cofactor, which contains the element molybdenum, is essential to the function of several enzymes. These enzymes help break down (metabolize) different substances in the body, some of which are toxic if not metabolized. Mutations in the MOCS1, MOCS2, or GPHN gene reduce or eliminate the function of the associated protein, which impairs molybdenum cofactor biosynthesis. Without the cofactor, the metabolic enzymes that rely on it cannot function. The resulting loss of enzyme activity leads to buildup of certain chemicals, including sulfite, S-sulfocysteine, xanthine, and hypoxanthine (which can be identified in urine), and low levels of uric acid in the blood. Sulfite, which is normally broken down by one of the molybdenum cofactor-dependent enzymes, is toxic, especially to the brain. Researchers suggest that damage caused by the abnormally high levels of sulfite (and possibly other chemicals) leads to encephalopathy, seizures, and the other features of molybdenum cofactor deficiency.",GHR,molybdenum cofactor deficiency +Is molybdenum cofactor deficiency inherited ?,"Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.",GHR,molybdenum cofactor deficiency +What are the treatments for molybdenum cofactor deficiency ?,"These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group B - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group C These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,molybdenum cofactor deficiency +What is (are) retinoblastoma ?,"Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In most children with retinoblastoma, the disease affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called ""cat's eye reflex"" or leukocoria. This unusual whiteness is particularly noticeable in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a gene mutation that occurs in all of the body's cells, it is known as germinal retinoblastoma. People with this form of retinoblastoma also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pinealoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues such as muscle, and an aggressive form of skin cancer called melanoma.",GHR,retinoblastoma +How many people are affected by retinoblastoma ?,Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years.,GHR,retinoblastoma +What are the genetic changes related to retinoblastoma ?,"Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of tumors in different people. A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).",GHR,retinoblastoma +Is retinoblastoma inherited ?,"Researchers estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all of the body's cells, including reproductive cells (sperm or eggs). People with germinal retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene to the next generation. The other 60 percent of retinoblastomas are non-germinal, which means that RB1 mutations occur only in the eye and cannot be passed to the next generation. In germinal retinoblastoma, mutations in the RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance suggests that one copy of the altered gene in each cell is sufficient to increase cancer risk. A person with germinal retinoblastoma may inherit an altered copy of the gene from one parent, or the altered gene may be the result of a new mutation that occurs in an egg or sperm cell or just after fertilization. For retinoblastoma to develop, a mutation involving the other copy of the RB1 gene must occur in retinal cells during the person's lifetime. This second mutation usually occurs in childhood, typically leading to the development of retinoblastoma in both eyes. In the non-germinal form of retinoblastoma, typically only one eye is affected and there is no family history of the disease. Affected individuals are born with two normal copies of the RB1 gene. Then, usually in early childhood, both copies of the RB1 gene in retinal cells acquire mutations or are lost. People with non-germinal retinoblastoma are not at risk of passing these RB1 mutations to their children. However, without genetic testing it can be difficult to tell whether a person with retinoblastoma in one eye has the germinal or the non-germinal form of the disease.",GHR,retinoblastoma +What are the treatments for retinoblastoma ?,These resources address the diagnosis or management of retinoblastoma: - Gene Review: Gene Review: Retinoblastoma - Genetic Testing Registry: Retinoblastoma - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Retinoblastoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,retinoblastoma +What is (are) Alexander disease ?,"Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired. Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures. Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).",GHR,Alexander disease +How many people are affected by Alexander disease ?,The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.,GHR,Alexander disease +What are the genetic changes related to Alexander disease ?,"Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.",GHR,Alexander disease +Is Alexander disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Rarely, an affected person inherits the mutation from one affected parent.",GHR,Alexander disease +What are the treatments for Alexander disease ?,These resources address the diagnosis or management of Alexander disease: - Gene Review: Gene Review: Alexander Disease - Genetic Testing Registry: Alexander's disease - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Alexander disease +What is (are) 9q22.3 microdeletion ?,"9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome. Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion. About 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that can be associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum). 9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur more often in people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.",GHR,9q22.3 microdeletion +How many people are affected by 9q22.3 microdeletion ?,9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature.,GHR,9q22.3 microdeletion +What are the genetic changes related to 9q22.3 microdeletion ?,"People with a 9q22.3 microdeletion are missing a sequence of at least 352,000 DNA building blocks (base pairs), also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. This 352-kb segment is known as the minimum critical region because it is the smallest deletion that has been found to cause the signs and symptoms described above. 9q22.3 microdeletions can also be much larger; the largest reported deletion includes 20.5 million base pairs (20.5 Mb). 9q22.3 microdeletion affects one of the two copies of chromosome 9 in each cell. People with a 9q22.3 microdeletion are missing from two to more than 270 genes on chromosome 9. All known 9q22.3 microdeletions include the PTCH1 gene. The protein produced from this gene, patched-1, acts as a tumor suppressor, which means it keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. Researchers believe that many of the features associated with 9q22.3 microdeletions, particularly the signs and symptoms of Gorlin syndrome, result from a loss of the PTCH1 gene. When this gene is missing, patched-1 is not available to suppress cell proliferation. As a result, cells divide uncontrollably to form the tumors that are characteristic of Gorlin syndrome. Other signs and symptoms related to 9q22.3 microdeletions probably result from the loss of additional genes in the q22.3 region. Researchers are working to determine which missing genes contribute to the other features associated with the deletion.",GHR,9q22.3 microdeletion +Is 9q22.3 microdeletion inherited ?,"9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome. A 9q22.3 microdeletion most often occurs in people whose parents do not carry the chromosomal change. In these cases, the deletion occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) in a parent or in early embryonic development. De novo chromosomal changes occur in people with no history of the disorder in their family. Less commonly, individuals with a 9q22.3 microdeletion inherit the chromosomal change from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment of chromosome 9 has traded places with a segment of another chromosome. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. People who inherit a 9q22.3 microdeletion receive an unbalanced translocation that deletes genetic material from one copy of the q22.3 region of chromosome 9 in each cell. Having one missing copy of the PTCH1 gene in each cell is enough to cause the features of Gorlin syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and other tumors to develop, a mutation in the other copy of the PTCH1 gene must also occur in certain cells during the person's lifetime. Most people who are born with one missing copy of the PTCH1 gene eventually acquire a mutation in the other copy of the gene in some cells and consequently develop various types of tumors.",GHR,9q22.3 microdeletion +What are the treatments for 9q22.3 microdeletion ?,These resources address the diagnosis or management of 9q22.3 microdeletion: - Gene Review: Gene Review: 9q22.3 Microdeletion - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,9q22.3 microdeletion +What is (are) Darier disease ?,"Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups alternating with periods when they have fewer blemishes. The appearance of the blemishes is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summertime when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or scratching; and ingestion of certain medications can also cause an increase in blemishes. On occasion, people with Darier disease may have neurological disorders such as mild intellectual disability, epilepsy, and depression. Learning and behavior difficulties have also been reported in people with Darier disease. Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. The blemishes are not as widespread as they are in typical Darier disease. Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.",GHR,Darier disease +How many people are affected by Darier disease ?,"The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 people in northern England, and 1 in 100,000 people in Denmark.",GHR,Darier disease +What are the genetic changes related to Darier disease ?,"Mutations in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for producing an enzyme abbreviated as SERCA2. This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell that is involved in protein processing and transport. The sarcoplasmic reticulum is a structure in muscle cells that assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals. Mutations in the ATP2A2 gene result in insufficient amounts of functional SERCA2 enzyme. A lack of SERCA2 enzyme reduces calcium levels in the endoplasmic reticulum, causing it to become dysfunctional. SERCA2 is expressed throughout the body; it is not clear why changes in this enzyme affect only the skin. Some researchers note that skin cells are the only cell types expressing SERCA2 that do not have a ""back-up"" enzyme for calcium transport. This dependence on the SERCA2 enzyme may make skin cells particularly vulnerable to changes in this enzyme. The linear form of Darier disease is caused by ATP2A2 gene mutations that are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. There have been no known cases of people with the linear form of Darier disease passing it on to their children.",GHR,Darier disease +Is Darier disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. The linear form of Darier disease is generally not inherited but arises from mutations in the body's cells that occur after conception. These alterations are called somatic mutations.",GHR,Darier disease +What are the treatments for Darier disease ?,These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Darier disease +What is (are) Proteus syndrome ?,"Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age. In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body. Bones in the limbs, skull, and spine are often affected. The condition can also cause a variety of skin growths, particularly a thick, raised, and deeply grooved lesion known as a cerebriform connective tissue nevus. This type of skin growth usually occurs on the soles of the feet and is hardly ever seen in conditions other than Proteus syndrome. Blood vessels (vascular tissue) and fat (adipose tissue) can also grow abnormally in Proteus syndrome. Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss. Affected individuals may also have distinctive facial features such as a long face, outside corners of the eyes that point downward (down-slanting palpebral fissures), a low nasal bridge with wide nostrils, and an open-mouth expression. For reasons that are unclear, affected people with neurological symptoms are more likely to have distinctive facial features than those without neurological symptoms. It is unclear how these signs and symptoms are related to abnormal growth. Other potential complications of Proteus syndrome include an increased risk of developing various types of noncancerous (benign) tumors and a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the deep veins of the legs or arms. If these clots travel through the bloodstream, they can lodge in the lungs and cause a life-threatening complication called a pulmonary embolism. Pulmonary embolism is a common cause of death in people with Proteus syndrome.",GHR,Proteus syndrome +How many people are affected by Proteus syndrome ?,"Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To make an accurate diagnosis, most doctors and researchers now follow a set of strict guidelines that define the signs and symptoms of Proteus syndrome.",GHR,Proteus syndrome +What are the genetic changes related to Proteus syndrome ?,"Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally. In some published case reports, mutations in a gene called PTEN have been associated with Proteus syndrome. However, many researchers now believe that individuals with PTEN gene mutations and asymmetric overgrowth do not meet the strict guidelines for a diagnosis of Proteus syndrome. Instead, these individuals actually have condition that is considered part of a larger group of disorders called PTEN hamartoma tumor syndrome. One name that has been proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another is type 2 segmental Cowden syndrome. However, some scientific articles still refer to PTEN-related Proteus syndrome.",GHR,Proteus syndrome +Is Proteus syndrome inherited ?,"Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families.",GHR,Proteus syndrome +What are the treatments for Proteus syndrome ?,These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Proteus syndrome +What is (are) thrombotic thrombocytopenic purpura ?,"Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Blood clots normally form to prevent excess blood loss at the site of an injury. In people with thrombotic thrombocytopenic purpura, clots develop in blood vessels even in the absence of injury. Blood clots are formed from clumps of cell fragments called platelets, which circulate in the blood and assist with clotting. Because a large number of platelets are used to make clots in people with thrombotic thrombocytopenic purpura, fewer platelets are available in the bloodstream. A reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura. This disorder also causes red blood cells to break down (undergo hemolysis) prematurely. As blood squeezes past clots within blood vessels, red blood cells can break apart. A condition called hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. There are two major forms of thrombotic thrombocytopenic purpura, an acquired (noninherited) form and a familial form. The acquired form usually appears in late childhood or adulthood. Affected individuals may have a single episode of signs and symptoms, or they may recur over time. The familial form of this disorder is much rarer and typically appears in infancy or early childhood. In people with the familial form, signs and symptoms often recur on a regular basis.",GHR,thrombotic thrombocytopenic purpura +How many people are affected by thrombotic thrombocytopenic purpura ?,"The precise incidence of thrombotic thrombocytopenic purpura is unknown. Researchers estimate that, depending on geographic location, the condition affects 1.7 to 11 per million people each year in the United States. For unknown reasons, the disorder occurs more frequently in women than in men. The acquired form of thrombotic thrombocytopenic purpura is much more common than the familial form.",GHR,thrombotic thrombocytopenic purpura +What are the genetic changes related to thrombotic thrombocytopenic purpura ?,"Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thrombotic thrombocytopenic purpura also results from a reduction in ADAMTS13 enzyme activity; however, people with the acquired form do not have mutations in the ADAMTS13 gene. Instead, their immune systems often produce specific proteins called autoantibodies that block the activity of the enzyme. A lack of ADAMTS13 enzyme activity disrupts the usual balance between bleeding and clotting. Normally, blood clots form at the site of an injury to seal off damaged blood vessels and prevent excess blood loss. In people with thrombotic thrombocytopenic purpura, clots form throughout the body as platelets bind together abnormally and stick to the walls of blood vessels. These clots can block small blood vessels, causing organ damage and the other features of thrombotic thrombocytopenic purpura. Researchers believe that other genetic or environmental factors may contribute to the signs and symptoms of thrombotic thrombocytopenic purpura. In people with reduced ADAMTS13 enzyme activity, factors such as pregnancy, surgery, and infection may trigger abnormal blood clotting and its associated complications.",GHR,thrombotic thrombocytopenic purpura +Is thrombotic thrombocytopenic purpura inherited ?,"The familial form of thrombotic thrombocytopenic purpura is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The acquired form of thrombotic thrombocytopenic purpura is not inherited.",GHR,thrombotic thrombocytopenic purpura +What are the treatments for thrombotic thrombocytopenic purpura ?,These resources address the diagnosis or management of thrombotic thrombocytopenic purpura: - Genetic Testing Registry: Upshaw-Schulman syndrome - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Hemolytic anemia - MedlinePlus Encyclopedia: Purpura - MedlinePlus Encyclopedia: Thrombocytopenia - MedlinePlus Encyclopedia: Thrombotic thrombocytopenic purpura These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,thrombotic thrombocytopenic purpura +What is (are) D-bifunctional protein deficiency ?,"D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may reach very early developmental milestones such as the ability to follow movement with their eyes or control their head movement, but they experience a gradual loss of these skills (developmental regression) within a few months. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with D-bifunctional protein deficiency do not survive past the age of 2. A small number of individuals with this disorder are somewhat less severely affected. They may acquire additional basic skills, such as voluntary hand movements or unsupported sitting, before experiencing developmental regression, and they may survive longer into childhood than more severely affected individuals. Individuals with D-bifunctional protein deficiency may have unusual facial features, including a high forehead, widely spaced eyes (hypertelorism), a lengthened area between the nose and mouth (philtrum), and a high arch of the hard palate at the roof of the mouth. Affected infants may also have an unusually large space between the bones of the skull (fontanel). An enlarged liver (hepatomegaly) occurs in about half of affected individuals. Because these features are similar to those of another disorder called Zellweger syndrome (part of a group of disorders called the Zellweger spectrum), D-bifunctional protein deficiency is sometimes called pseudo-Zellweger syndrome.",GHR,D-bifunctional protein deficiency +How many people are affected by D-bifunctional protein deficiency ?,"D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns.",GHR,D-bifunctional protein deficiency +What are the genetic changes related to D-bifunctional protein deficiency ?,"D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell. HSD17B4 gene mutations that cause D-bifunctional protein deficiency can affect one or both of the protein's functions; however, this distinction does not seem to affect the severity or features of the disorder. Impairment of one or both of the protein's enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body. It is unclear how fatty acid accumulation leads to the specific neurological and non-neurological features of D-bifunctional protein deficiency. However, the accumulation may result in abnormal development of the brain and the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency.",GHR,D-bifunctional protein deficiency +Is D-bifunctional protein deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,D-bifunctional protein deficiency +What are the treatments for D-bifunctional protein deficiency ?,These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,D-bifunctional protein deficiency +What is (are) collagen VI-related myopathy ?,"Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related myopathy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars. The intermediate form of collagen VI-related myopathy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep. People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their neck, hips, and knees, which further impair movement. There may be joint laxity in the fingers, wrists, toes, ankles, and other joints. Some affected individuals need continuous mechanical ventilation to help them breathe. As in Bethlem myopathy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing. Individuals with collagen VI-related myopathy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.",GHR,collagen VI-related myopathy +How many people are affected by collagen VI-related myopathy ?,"Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.",GHR,collagen VI-related myopathy +What are the genetic changes related to collagen VI-related myopathy ?,"Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue. This matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen helps secure and organize the extracellular matrix by linking the matrix to the cells it surrounds. Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. While it is difficult to predict which type of mutation will lead to which form of collagen VI-related myopathy, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life. Changes in type VI collagen structure or production lead to an unstable extracellular matrix that is no longer attached to cells. As a result, the stability of the surrounding muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.",GHR,collagen VI-related myopathy +Is collagen VI-related myopathy inherited ?,"Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullrich congenital muscular dystrophy. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. Collagen VI-related myopathy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive manner, as are some cases of the intermediate form and a few rare instances of Bethlem myopathy. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,collagen VI-related myopathy +What are the treatments for collagen VI-related myopathy ?,These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Registry: Collagen VI-related myopathy - Genetic Testing Registry: Ullrich congenital muscular dystrophy - Muscular Dystrophy UK: Could Cyclosporine A be used to treat Bethlem myopathy and Ullrich congenital muscular dystrophy? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,collagen VI-related myopathy +What is (are) combined malonic and methylmalonic aciduria ?,"Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly). Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.",GHR,combined malonic and methylmalonic aciduria +How many people are affected by combined malonic and methylmalonic aciduria ?,CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature.,GHR,combined malonic and methylmalonic aciduria +What are the genetic changes related to combined malonic and methylmalonic aciduria ?,"Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the first step of fatty acid synthesis in cellular structures called mitochondria. Based on this activity, the enzyme is classified as a malonyl-CoA synthetase. The ACSF3 enzyme also converts methylmalonic acid to methylmalonyl-CoA, making it a methylmalonyl-CoA synthetase as well. The effects of ACSF3 gene mutations are unknown. Researchers suspect that the mutations lead to altered enzymes that have little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of these acids may be responsible for the signs and symptoms of CMAMMA, although the mechanisms are unclear.",GHR,combined malonic and methylmalonic aciduria +Is combined malonic and methylmalonic aciduria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,combined malonic and methylmalonic aciduria +What are the treatments for combined malonic and methylmalonic aciduria ?,These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,combined malonic and methylmalonic aciduria +What is (are) retroperitoneal fibrosis ?,"Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60. The inflamed tissue characteristic of retroperitoneal fibrosis typically causes gradually increasing pain in the lower abdomen, back, or side. Other symptoms arise from blockage of blood flow to and from various parts of the lower body, due to the development of scar tissue around blood vessels. The fibrosis usually develops first around the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Additional blood vessels including the inferior vena cava, which returns blood from the lower part of the body to the heart, may also be involved. Obstruction of blood flow to and from the legs can result in pain, changes in color, and swelling in these limbs. Impairment of blood flow in the intestines may lead to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, reduced blood flow back toward the heart (venous flow) may cause swelling of the scrotum. Because the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, which are tubes that carry urine from each kidney to the bladder. Such blockages can lead to decreased or absent urine flow and kidney failure. When the kidneys fail, toxic substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells (anemia), and changes in brain function.",GHR,retroperitoneal fibrosis +How many people are affected by retroperitoneal fibrosis ?,"Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear.",GHR,retroperitoneal fibrosis +What are the genetic changes related to retroperitoneal fibrosis ?,"No genes associated with retroperitoneal fibrosis have been identified. Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. They propose that the immune system may be reacting abnormally to blood vessels damaged by fatty buildup (atherosclerosis) or to certain drugs, infections, or trauma. In many cases, the reason for the abnormal immune system reaction is unknown. Such cases are described as idiopathic.",GHR,retroperitoneal fibrosis +Is retroperitoneal fibrosis inherited ?,"Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown.",GHR,retroperitoneal fibrosis +What are the treatments for retroperitoneal fibrosis ?,These resources address the diagnosis or management of retroperitoneal fibrosis: - Johns Hopkins Medicine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,retroperitoneal fibrosis +What is (are) holocarboxylase synthetase deficiency ?,"Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.",GHR,holocarboxylase synthetase deficiency +How many people are affected by holocarboxylase synthetase deficiency ?,"The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.",GHR,holocarboxylase synthetase deficiency +What are the genetic changes related to holocarboxylase synthetase deficiency ?,"Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.",GHR,holocarboxylase synthetase deficiency +Is holocarboxylase synthetase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,holocarboxylase synthetase deficiency +What are the treatments for holocarboxylase synthetase deficiency ?,These resources address the diagnosis or management of holocarboxylase synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Holocarboxylase synthetase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,holocarboxylase synthetase deficiency +What is (are) X-linked agammaglobulinemia ?,"X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies. Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.",GHR,X-linked agammaglobulinemia +How many people are affected by X-linked agammaglobulinemia ?,"XLA occurs in approximately 1 in 200,000 newborns.",GHR,X-linked agammaglobulinemia +What are the genetic changes related to X-linked agammaglobulinemia ?,"Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell development and leads to a lack of antibodies. Without antibodies, the immune system cannot properly respond to foreign invaders and prevent infection.",GHR,X-linked agammaglobulinemia +Is X-linked agammaglobulinemia inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. About half of affected individuals do not have a family history of XLA. In most of these cases, the affected person's mother is a carrier of one altered BTK gene. Carriers do not have the immune system abnormalities associated with XLA, but they can pass the altered gene to their children. In other cases, the mother is not a carrier and the affected individual has a new mutation in the BTK gene.",GHR,X-linked agammaglobulinemia +What are the treatments for X-linked agammaglobulinemia ?,These resources address the diagnosis or management of X-linked agammaglobulinemia: - Gene Review: Gene Review: X-Linked Agammaglobulinemia - Genetic Testing Registry: X-linked agammaglobulinemia - MedlinePlus Encyclopedia: Agammaglobulinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked agammaglobulinemia +What is (are) DICER1 syndrome ?,"DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).",GHR,DICER1 syndrome +How many people are affected by DICER1 syndrome ?,DICER1 syndrome is a rare condition; its prevalence is unknown.,GHR,DICER1 syndrome +What are the genetic changes related to DICER1 syndrome ?,"DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that attaches to a protein's blueprint (a molecule called messenger RNA) and blocks the production of proteins from it. Through this role in regulating the activity (expression) of genes, the Dicer protein is involved in many processes, including cell growth and division (proliferation) and the maturation of cells to take on specialized functions (differentiation). Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. Without appropriate regulation by miRNA, genes are likely expressed abnormally, which could cause cells to grow and divide uncontrollably and lead to tumor formation.",GHR,DICER1 syndrome +Is DICER1 syndrome inherited ?,"DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths.",GHR,DICER1 syndrome +What are the treatments for DICER1 syndrome ?,These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Registry: Pleuropulmonary blastoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,DICER1 syndrome +What is (are) RAPADILINO syndrome ?,"RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints. Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as caf-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood. The condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence. The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.",GHR,RAPADILINO syndrome +How many people are affected by RAPADILINO syndrome ?,"RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown. The condition was first identified in Finland, where it affects an estimated 1 in 75,000 individuals, although it has since been found in other regions.",GHR,RAPADILINO syndrome +What are the genetic changes related to RAPADILINO syndrome ?,"Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. The most common RECQL4 gene mutation involved in RAPADILINO syndrome causes the RECQL4 protein to be pieced together incorrectly. This genetic change results in the production of a protein that is missing a region called exon 7 and is unable to act as a helicase. The loss of helicase function may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. These changes may result in the accumulation of DNA errors and cell death, although it is unclear exactly how RECQL4 gene mutations lead to the specific features of RAPADILINO syndrome.",GHR,RAPADILINO syndrome +Is RAPADILINO syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,RAPADILINO syndrome +What are the treatments for RAPADILINO syndrome ?,These resources address the diagnosis or management of RAPADILINO syndrome: - Genetic Testing Registry: Rapadilino syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,RAPADILINO syndrome +What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ?,"PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria). Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping. PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.",GHR,PRICKLE1-related progressive myoclonus epilepsy with ataxia +How many people are affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia ?,The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals.,GHR,PRICKLE1-related progressive myoclonus epilepsy with ataxia +What are the genetic changes related to PRICKLE1-related progressive myoclonus epilepsy with ataxia ?,"PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function. Mutations in the PRICKLE1 gene alter the structure of prickle homolog 1 and disrupt its ability to interact with other proteins. However, it is unclear how these changes lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.",GHR,PRICKLE1-related progressive myoclonus epilepsy with ataxia +Is PRICKLE1-related progressive myoclonus epilepsy with ataxia inherited ?,"Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Other cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are considered autosomal dominant because one copy of the altered gene in each cell is sufficient to cause the disorder. These cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,PRICKLE1-related progressive myoclonus epilepsy with ataxia +What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ?,These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,PRICKLE1-related progressive myoclonus epilepsy with ataxia +What is (are) familial Mediterranean fever ?,"Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.",GHR,familial Mediterranean fever +How many people are affected by familial Mediterranean fever ?,"Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations.",GHR,familial Mediterranean fever +What are the genetic changes related to familial Mediterranean fever ?,"Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this process is complete, the body stops the inflammatory response to prevent damage to its own cells and tissues. Mutations in the MEFV gene reduce the activity of the pyrin protein, which disrupts control of the inflammation process. An inappropriate or prolonged inflammatory response can result, leading to fever and pain in the abdomen, chest, or joints. Normal variations in the SAA1 gene may modify the course of familial Mediterranean fever. Some evidence suggests that a particular version of the SAA1 gene (called the alpha variant) increases the risk of amyloidosis among people with familial Mediterranean fever.",GHR,familial Mediterranean fever +Is familial Mediterranean fever inherited ?,"Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the MEFV gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In rare cases, this condition appears to be inherited in an autosomal dominant pattern. An autosomal dominant inheritance pattern describes cases in which one copy of the altered gene in each cell is sufficient to cause the disorder. In autosomal dominant inheritance, affected individuals often inherit the mutation from one affected parent. However, another mechanism is believed to account for some cases of familial Mediterranean fever that were originally thought to be inherited in an autosomal dominant pattern. A gene mutation that occurs frequently in a population may result in a disorder with autosomal recessive inheritance appearing in multiple generations in a family, a pattern that mimics autosomal dominant inheritance. If one parent has familial Mediterranean fever (with mutations in both copies of the MEFV gene in each cell) and the other parent is an unaffected carrier (with a mutation in one copy of the MEFV gene in each cell), it may appear as if the affected child inherited the disorder only from the affected parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.",GHR,familial Mediterranean fever +What are the treatments for familial Mediterranean fever ?,These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial Mediterranean fever +What is (are) primary hyperoxaluria ?,"Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures. There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.",GHR,primary hyperoxaluria +How many people are affected by primary hyperoxaluria ?,"Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.",GHR,primary hyperoxaluria +What are the genetic changes related to primary hyperoxaluria ?,"Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the AGXT and GRHPR genes. Mutations in the AGXT, GRHPR, or HOGA1 gene lead to a decrease in production or activity of the respective proteins, which prevents the normal breakdown of glyoxylate. AGXT and GRHPR gene mutations result in an accumulation of glyoxylate, which is then converted to oxalate for removal from the body as a waste product. HOGA1 gene mutations also result in excess oxalate, although researchers are unsure as to how this occurs. Oxalate that is not excreted from the body combines with calcium to form calcium oxalate deposits, which can damage the kidneys and other organs.",GHR,primary hyperoxaluria +Is primary hyperoxaluria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,primary hyperoxaluria +What are the treatments for primary hyperoxaluria ?,These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Registry: Primary hyperoxaluria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,primary hyperoxaluria +"What is (are) GM2-gangliosidosis, AB variant ?","GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with the AB variant experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with the AB variant usually live only into early childhood.",GHR,"GM2-gangliosidosis, AB variant" +"How many people are affected by GM2-gangliosidosis, AB variant ?",The AB variant is extremely rare; only a few cases have been reported worldwide.,GHR,"GM2-gangliosidosis, AB variant" +"What are the genetic changes related to GM2-gangliosidosis, AB variant ?","Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down. Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of the AB variant. Because the AB variant impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.",GHR,"GM2-gangliosidosis, AB variant" +"Is GM2-gangliosidosis, AB variant inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"GM2-gangliosidosis, AB variant" +"What are the treatments for GM2-gangliosidosis, AB variant ?","These resources address the diagnosis or management of GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"GM2-gangliosidosis, AB variant" +"What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?","Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.",GHR,"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" +"How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?","The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.",GHR,"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" +"What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?","MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. Some of the genes related to MELAS provide instructions for making proteins involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Other genes associated with this disorder provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks called amino acids into full-length, functioning proteins within mitochondria. Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. They continue to investigate the effects of mitochondrial gene mutations in different tissues, particularly in the brain.",GHR,"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" +"Is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes inherited ?","This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS.",GHR,"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" +"What are the treatments for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?","These resources address the diagnosis or management of MELAS: - Gene Review: Gene Review: MELAS - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke - MedlinePlus Encyclopedia: Lactic acidosis - MedlinePlus Encyclopedia: Stroke These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes" +What is (are) Kuskokwim syndrome ?,"Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and elbows, although other joints, particularly of the lower body, can be affected. The contractures are usually present at birth and worsen during childhood. They tend to stabilize after childhood, and they remain throughout life. Some individuals with this condition have other bone abnormalities, most commonly affecting the spine, pelvis, and feet. Affected individuals can develop an inward curve of the lower back (lordosis), a spine that curves to the side (scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones (clavicles) described as clubbing. Affected individuals are typically shorter than their peers and they may have an abnormally large head (macrocephaly).",GHR,Kuskokwim syndrome +How many people are affected by Kuskokwim syndrome ?,Kuskokwim syndrome is extremely rare. It affects a small number of people from the Yup'ik Eskimo population in southwest Alaska.,GHR,Kuskokwim syndrome +What are the genetic changes related to Kuskokwim syndrome ?,"Kuskokwim syndrome is caused by mutations in the FKBP10 gene, which provides instructions for making the FKBP10 protein (formerly known as FKBP65). This protein is important for the correct processing of complex molecules called collagens, which provide structure and strength to connective tissues that support the body's bones, joints, and organs. Collagen molecules are cross-linked to one another to form long, thin fibrils, which are found in the spaces around cells (the extracellular matrix). The formation of cross-links results in very strong collagen fibrils. The FKBP10 protein attaches to collagens and plays a role in their cross-linking. A mutation in the FKBP10 gene alters the FKBP10 protein, making it unstable and easily broken down. As a result, people with Kuskokwim syndrome have only about 5 percent of the normal amount of FKBP10 protein. This reduction in protein levels impairs collagen cross-linking and leads to a disorganized network of collagen molecules. It is unclear how these changes in the collagen matrix are involved in the development of joint contractures and other abnormalities in people with Kuskokwim syndrome.",GHR,Kuskokwim syndrome +Is Kuskokwim syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Kuskokwim syndrome +What are the treatments for Kuskokwim syndrome ?,These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kuskokwim syndrome +What is (are) MYH9-related disorder ?,"MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.",GHR,MYH9-related disorder +How many people are affected by MYH9-related disorder ?,The incidence of MYH9-related disorder is unknown. More than 200 affected families have been reported in the scientific literature.,GHR,MYH9-related disorder +What are the genetic changes related to MYH9-related disorder ?,"MYH9-related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, myosin IIB and myosin IIC. The three forms are found throughout the body and perform similar functions. They play roles in cell movement (cell motility); maintenance of cell shape; and cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. While some cells use more than one type of myosin II, certain blood cells such as platelets and white blood cells (leukocytes) use only myosin IIA. MYH9 gene mutations that cause MYH9-related disorder typically result in a nonfunctional version of the myosin-9 protein. The nonfunctional protein cannot properly interact with other subunits to form myosin IIA. Platelets and leukocytes, which only use myosin IIA, are most affected by a lack of functional myosin-9. It is thought that a lack of functional myosin IIA leads to the release of large, immature platelets in the bloodstream, resulting in a reduced amount of normal platelets. In leukocytes, the nonfunctional myosin-9 clumps together. These clumps of protein, called inclusion bodies, are a hallmark of MYH9-related disorder and are present in the leukocytes of everyone with this condition.",GHR,MYH9-related disorder +Is MYH9-related disorder inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,MYH9-related disorder +What are the treatments for MYH9-related disorder ?,These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness - Genetic Testing Registry: May-Hegglin anomaly - Genetic Testing Registry: Sebastian syndrome - MedlinePlus Encyclopedia: Glomerulonephritis - MedlinePlus Encyclopedia: Thrombocytopenia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,MYH9-related disorder +What is (are) Milroy disease ?,"Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.",GHR,Milroy disease +How many people are affected by Milroy disease ?,Milroy disease is a rare disorder; its incidence is unknown.,GHR,Milroy disease +What are the genetic changes related to Milroy disease ?,"Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder. Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown.",GHR,Milroy disease +Is Milroy disease inherited ?,"Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease.",GHR,Milroy disease +What are the treatments for Milroy disease ?,These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Milroy disease +What is (are) familial atrial fibrillation ?,"Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.",GHR,familial atrial fibrillation +How many people are affected by familial atrial fibrillation ?,"Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.",GHR,familial atrial fibrillation +What are the genetic changes related to familial atrial fibrillation ?,"A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death. Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation.",GHR,familial atrial fibrillation +Is familial atrial fibrillation inherited ?,"Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,familial atrial fibrillation +What are the treatments for familial atrial fibrillation ?,"These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation, familial, 3 - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Atrial fibrillation/flutter These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial atrial fibrillation +What is (are) GRN-related frontotemporal dementia ?,"GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. However, the features of this condition vary significantly, even among affected members of the same family. Behavioral changes are the most common early signs of GRN-related frontotemporal dementia. These include marked changes in personality, judgment, and insight. It may become difficult for affected individuals to interact with others in a socially appropriate manner. Affected people may also become easily distracted and unable to complete tasks. They increasingly require help with personal care and other activities of daily living. Many people with GRN-related frontotemporal dementia develop progressive problems with speech and language (aphasia). Affected individuals may have trouble speaking, remembering words and names (dysnomia), and understanding speech. Over time, they may completely lose the ability to communicate. Some people with GRN-related frontotemporal dementia also develop movement disorders, such as parkinsonism and corticobasal syndrome. The signs and symptoms of these disorders include tremors, rigidity, unusually slow movement (bradykinesia), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia), and an inability to carry out purposeful movements (apraxia).",GHR,GRN-related frontotemporal dementia +How many people are affected by GRN-related frontotemporal dementia ?,"GRN-related frontotemporal dementia affects an estimated 3 to 15 per 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all cases of frontotemporal dementia.",GHR,GRN-related frontotemporal dementia +What are the genetic changes related to GRN-related frontotemporal dementia ?,"GRN-related frontotemporal dementia results from mutations in the GRN gene. This gene provides instructions for making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. Granulin's function in the brain is not well understood, although it appears to play an important role in the survival of nerve cells (neurons). Most mutations in the GRN gene prevent any granulin from being produced from one copy of the gene in each cell. As a result, cells make only half the usual amount of granulin. It is unclear how a shortage of this protein leads to the features of GRN-related frontotemporal dementia. However, studies have shown that the disorder is characterized by the buildup of a protein called TAR DNA-binding protein (TDP-43) in certain brain cells. The TDP-43 protein forms clumps (aggregates) that may interfere with cell functions and ultimately lead to cell death. Researchers are working to determine how mutations in the GRN gene, and the resulting loss of granulin, are related to a buildup of TDP-43 in the brain. The features of GRN-related frontotemporal dementia result from the gradual loss of neurons in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. The death of neurons in these areas causes problems with many critical brain functions. However, it is unclear why the loss of neurons occurs in the frontal and temporal lobes more often than other brain regions in people with GRN-related frontotemporal dementia.",GHR,GRN-related frontotemporal dementia +Is GRN-related frontotemporal dementia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has a parent and other family members with the condition.",GHR,GRN-related frontotemporal dementia +What are the treatments for GRN-related frontotemporal dementia ?,"These resources address the diagnosis or management of GRN-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: GRN-Related Frontotemporal Dementia - Genetic Testing Registry: Frontotemporal dementia, ubiquitin-positive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,GRN-related frontotemporal dementia +What is (are) nemaline myopathy ?,"Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.",GHR,nemaline myopathy +How many people are affected by nemaline myopathy ?,"Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.",GHR,nemaline myopathy +What are the genetic changes related to nemaline myopathy ?,"Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the proteins associated with nemaline myopathy interact within the sarcomere to facilitate muscle contraction. When the skeletal muscle cells of people with nemaline myopathy are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain rod-like structures called nemaline bodies. Most cases of nemaline myopathy with a known genetic cause result from mutations in one of two genes, NEB or ACTA1. NEB gene mutations account for about 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent of all cases. When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at birth or beginning in early childhood. When nemaline myopathy is caused by ACTA1 gene mutations, the condition's severity and age of onset vary widely. Mutations in the other genes associated with nemaline myopathy each account for only a small percentage of cases. Mutations in any of the genes associated with nemaline myopathy lead to disorganization of the proteins found in the sarcomeres of skeletal muscles. The disorganized proteins cannot interact normally, which disrupts muscle contraction. Inefficient muscle contraction leads to muscle weakness and the other features of nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals.",GHR,nemaline myopathy +Is nemaline myopathy inherited ?,"Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less often, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,nemaline myopathy +What are the treatments for nemaline myopathy ?,These resources address the diagnosis or management of nemaline myopathy: - Gene Review: Gene Review: Nemaline Myopathy - Genetic Testing Registry: Nemaline myopathy - Genetic Testing Registry: Nemaline myopathy 1 - Genetic Testing Registry: Nemaline myopathy 10 - Genetic Testing Registry: Nemaline myopathy 2 - Genetic Testing Registry: Nemaline myopathy 3 - Genetic Testing Registry: Nemaline myopathy 4 - Genetic Testing Registry: Nemaline myopathy 5 - Genetic Testing Registry: Nemaline myopathy 6 - Genetic Testing Registry: Nemaline myopathy 7 - Genetic Testing Registry: Nemaline myopathy 8 - Genetic Testing Registry: Nemaline myopathy 9 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nemaline myopathy +What is (are) CASK-related intellectual disability ?,"CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth. People with MICPCH often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of areas of the brain called the cerebellum and the pons. The cerebellum is the part of the brain that coordinates movement. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain. Individuals with MICPCH have intellectual disability that is usually severe. They may have sleep disturbances and exhibit self-biting, hand flapping, or other abnormal repetitive behaviors. Seizures are also common in this form of the disorder. People with MICPCH do not usually develop language skills, and most do not learn to walk. They have hearing loss caused by nerve problems in the inner ear (sensorineural hearing loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do not look in the same direction (strabismus). Characteristic facial features may include arched eyebrows; a short, broad nose; a lengthened area between the nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and large ears. Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along with increased muscle tone (hypertonia) and stiffness (spasticity) in the limbs. Movement problems such as involuntary tensing of various muscles (dystonia) may also occur in this form of the disorder. XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form.",GHR,CASK-related intellectual disability +How many people are affected by CASK-related intellectual disability ?,"The prevalence of CASK-related intellectual disability is unknown. More than 50 females with MICPCH have been described in the medical literature, while only a few affected males have been described. By contrast, more than 20 males but only a few females have been diagnosed with the milder form of the disorder, XL-ID with or without nystagmus. This form of the disorder may go unrecognized in mildly affected females.",GHR,CASK-related intellectual disability +What are the genetic changes related to CASK-related intellectual disability ?,"CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network). Mutations in the CASK gene affect the role of the CASK protein in brain development and function, resulting in the signs and symptoms of CASK-related intellectual disability. The severe form of this disorder, MICPCH, is caused by mutations that eliminate CASK function, while mutations that impair the function of this protein cause the milder form, XL-ID with or without nystagmus. Affected individuals with nystagmus may have CASK gene mutations that disrupt the interaction between the CASK protein and the protein produced from the FRMD7 gene, leading to problems with the development of the oculomotor neural network and resulting in abnormal eye movements.",GHR,CASK-related intellectual disability +Is CASK-related intellectual disability inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell is sufficient to cause the disorder. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell causes the condition. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,CASK-related intellectual disability +What are the treatments for CASK-related intellectual disability ?,These resources address the diagnosis or management of CASK-related intellectual disability: - Gene Review: Gene Review: CASK-Related Disorders - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,CASK-related intellectual disability +What is (are) von Hippel-Lindau syndrome ?,"Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor. Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous if they develop during pregnancy. About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.",GHR,von Hippel-Lindau syndrome +How many people are affected by von Hippel-Lindau syndrome ?,"The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.",GHR,von Hippel-Lindau syndrome +What are the genetic changes related to von Hippel-Lindau syndrome ?,"Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.",GHR,von Hippel-Lindau syndrome +Is von Hippel-Lindau syndrome inherited ?,"Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development. Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in von Hippel-Lindau syndrome. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.",GHR,von Hippel-Lindau syndrome +What are the treatments for von Hippel-Lindau syndrome ?,These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programme (UK) - MD Anderson Cancer Center - MedlinePlus Encyclopedia: Pheochromocytoma - MedlinePlus Encyclopedia: Renal Cell Carcinoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,von Hippel-Lindau syndrome +What is (are) leukoencephalopathy with vanishing white matter ?,"Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves. In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms. While childhood onset is the most common form of leukoencephalopathy with vanishing white matter, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood, when behavioral or psychiatric problems may be the first signs of the disease. Some females with milder forms of leukoencephalopathy with vanishing white matter who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. Progression of leukoencephalopathy with vanishing white matter is generally uneven, with periods of relative stability interrupted by episodes of rapid decline. People with this disorder are particularly vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright. These stresses may trigger the first symptoms of the condition or worsen existing symptoms, and can cause affected individuals to become lethargic or comatose.",GHR,leukoencephalopathy with vanishing white matter +How many people are affected by leukoencephalopathy with vanishing white matter ?,"The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.",GHR,leukoencephalopathy with vanishing white matter +What are the genetic changes related to leukoencephalopathy with vanishing white matter ?,"Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter. The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2. The eIF2 protein is called an initiation factor because it is involved in starting (initiating) protein synthesis. Proper regulation of protein synthesis is vital for ensuring that the correct levels of protein are available for the cell to cope with changing conditions. For example, cells must synthesize protein much faster if they are multiplying than if they are in a resting state. Mutations have been identified in all five of the genes from which the eIF2B protein is produced, although most of these mutations (about 65 percent) occur in the EIF2B5 gene. These mutations cause partial loss of eIF2B function in various ways. For example, they may impair the ability of one of the protein subunits to form a complex with the others, or make it more difficult for the protein to attach to the initiation factor. Partial loss of eIF2B function makes it more difficult for the body's cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter.",GHR,leukoencephalopathy with vanishing white matter +Is leukoencephalopathy with vanishing white matter inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,leukoencephalopathy with vanishing white matter +What are the treatments for leukoencephalopathy with vanishing white matter ?,These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,leukoencephalopathy with vanishing white matter +"What is (are) methemoglobinemia, beta-globin type ?","Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.",GHR,"methemoglobinemia, beta-globin type" +"How many people are affected by methemoglobinemia, beta-globin type ?","The incidence of methemoglobinemia, beta-globin type is unknown.",GHR,"methemoglobinemia, beta-globin type" +"What are the genetic changes related to methemoglobinemia, beta-globin type ?","Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. Each of these protein subunits is bound to an iron-containing molecule called heme; each heme contains an iron molecule in its center that can bind to one oxygen molecule. For hemoglobin to bind to oxygen, the iron within the heme molecule needs to be in a form called ferrous iron (Fe2+). The iron within the heme can change to another form of iron called ferric iron (Fe3+), which cannot bind oxygen. Hemoglobin that contains ferric iron is known as methemoglobin. HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. The ferric iron cannot bind oxygen and causes cyanosis and the brown appearance of blood.",GHR,"methemoglobinemia, beta-globin type" +"Is methemoglobinemia, beta-globin type inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,"methemoglobinemia, beta-globin type" +"What are the treatments for methemoglobinemia, beta-globin type ?","These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia - MedlinePlus Encyclopedia: Skin Discoloration--Bluish These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"methemoglobinemia, beta-globin type" +What is (are) STING-associated vasculopathy with onset in infancy ?,"STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. Excessive inflammation damages the body's own cells and tissues. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases. The signs and symptoms of SAVI begin in the first few months of life, and most are related to problems with blood vessels (vasculopathy) and damage to the tissues that rely on these vessels for their blood supply. Affected infants develop areas of severely damaged skin (lesions), particularly on the face, ears, nose, fingers, and toes. These lesions begin as rashes and can progress to become wounds (ulcers) and dead tissue (necrosis). The skin problems, which worsen in cold weather, can lead to complications such as scarred ears, a hole in the tissue that separates the two nostrils (nasal septum perforation), or fingers or toes that require amputation. Individuals with SAVI also have a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. Affected individuals may also experience episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. In addition to problems affecting the skin, people with SAVI have recurrent low-grade fevers and swollen lymph nodes. They may also develop widespread lung damage (interstitial lung disease) that can lead to the formation of scar tissue in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory complications can become life-threatening. Rarely, muscle inflammation (myositis) and joint stiffness also occur.",GHR,STING-associated vasculopathy with onset in infancy +How many people are affected by STING-associated vasculopathy with onset in infancy ?,The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature.,GHR,STING-associated vasculopathy with onset in infancy +What are the genetic changes related to STING-associated vasculopathy with onset in infancy ?,"SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. The TMEM173 gene mutations that cause SAVI are described as ""gain-of-function"" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation that results in tissue damage, leading to the signs and symptoms of SAVI.",GHR,STING-associated vasculopathy with onset in infancy +Is STING-associated vasculopathy with onset in infancy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.",GHR,STING-associated vasculopathy with onset in infancy +What are the treatments for STING-associated vasculopathy with onset in infancy ?,"These resources address the diagnosis or management of SAVI: - Beth Israel Deaconess Medical Center: Autoinflammatory Disease Center - Eurofever Project - Genetic Testing Registry: Sting-associated vasculopathy, infantile-onset - University College London: Vasculitis and Autoinflammation Research Group These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,STING-associated vasculopathy with onset in infancy +What is (are) 3-M syndrome ?,"3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. They have low birth weight and length and remain much smaller than others in their family, growing to an adult height of approximately 120 centimeters to 130 centimeters (4 feet to 4 feet 6 inches). Affected individuals have a normally sized head that looks disproportionately large in comparison with their body. The head may be unusually long and narrow in shape (dolichocephalic). In addition to short stature, people with 3-M syndrome have a triangle-shaped face with a broad, prominent forehead (frontal bossing) and a pointed chin; the middle of the face is less prominent (hypoplastic midface). They may have large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth (philtrum), a prominent mouth, and full lips. Affected individuals may have a short, broad neck and chest with prominent shoulder blades and square shoulders. They may have abnormal spinal curvature such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of the lower back (hyperlordosis). People with 3-M syndrome may also have unusual curving of the fingers (clinodactyly), short fifth (pinky) fingers, prominent heels, and loose joints. Other skeletal abnormalities, such as unusually slender long bones in the arms and legs, tall, narrow spinal bones (vertebrae), or slightly delayed bone age may be apparent in x-ray images. 3-M syndrome can also affect other body systems. Males with 3-M syndrome may produce reduced amounts of sex hormones (hypogonadism) and occasionally have the urethra opening on the underside of the penis (hypospadias). People with this condition may be at increased risk of developing bulges in blood vessel walls (aneurysms) in the brain. Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal. A variant of 3-M syndrome called Yakut short stature syndrome has been identified in an isolated population in Siberia. In addition to having most of the physical features characteristic of 3-M syndrome, people with this form of the disorder are often born with respiratory problems that can be life-threatening in infancy.",GHR,3-M syndrome +How many people are affected by 3-M syndrome ?,3-M syndrome is a rare disorder. About 50 individuals with this disorder have been identified worldwide.,GHR,3-M syndrome +What are the genetic changes related to 3-M syndrome ?,"Mutations in the CUL7 gene cause 3-M syndrome. The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. Cullin-7 helps to assemble a complex known as an E3 ubiquitin ligase. This complex tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. Mutations in the CUL7 gene that cause 3-M syndrome disrupt the ability of the cullin-7 protein to bring together the components of the E3 ubiquitin ligase complex, interfering with the process of tagging other proteins with ubiquitin (ubiquitination). It is not known how impaired ubiquitination results in the specific signs and symptoms of 3-M syndrome.",GHR,3-M syndrome +Is 3-M syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-M syndrome +What are the treatments for 3-M syndrome ?,These resources address the diagnosis or management of 3-M syndrome: - Gene Review: Gene Review: 3-M Syndrome - Genetic Testing Registry: Three M syndrome 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-M syndrome +What is (are) dopa-responsive dystonia ?,"Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa. Signs and symptoms of dopa-responsive dystonia usually appear during childhood, most commonly around age 6. The first signs of the condition are typically the development of inward- and upward-turning feet (clubfeet) and dystonia in the lower limbs. The dystonia spreads to the upper limbs over time; beginning in adolescence, the whole body is typically involved. Affected individuals may have unusual limb positioning and a lack of coordination when walking or running. Some people with this condition have sleep problems or episodes of depression more frequently than would normally be expected. Over time, affected individuals often develop a group of movement abnormalities called parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The movement difficulties associated with dopa-responsive dystonia usually worsen with age but stabilize around age 30. A characteristic feature of dopa-responsive dystonia is worsening of movement problems later in the day and an improvement of symptoms in the morning, after sleep (diurnal fluctuation). Rarely, the movement problems associated with dopa-responsive dystonia do not appear until adulthood. In these adult-onset cases, parkinsonism usually develops before dystonia, and movement problems are slow to worsen and do not show diurnal fluctuations.",GHR,dopa-responsive dystonia +How many people are affected by dopa-responsive dystonia ?,"Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders.",GHR,dopa-responsive dystonia +What are the genetic changes related to dopa-responsive dystonia ?,"Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule called tetrahydrobiopterin (BH4). The SPR gene, which provides instructions for making the sepiapterin reductase enzyme, is involved in the last step of tetrahydrobiopterin production. Tetrahydrobiopterin helps process several protein building blocks (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Specifically, tetrahydrobiopterin is involved in the production of two neurotransmitters called dopamine and serotonin. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The protein produced from the TH gene is also involved in dopamine production. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which helps convert the amino acid tyrosine to dopamine. Mutations in the GCH1 or SPR gene impair the production of tetrahydrobiopterin, which leads to a decrease in the amount of available dopamine. TH gene mutations result in the production of a tyrosine hydroxylase enzyme with reduced function, which leads to a decrease in dopamine production. A reduction in the amount of dopamine interferes with the brain's ability to produce smooth physical movements, resulting in the dystonia, tremor, and other movement problems associated with dopa-responsive dystonia. Sleep and mood disorders also occur in some individuals with GCH1 or SPR gene mutations; these disorders likely result from a disruption in the production of serotonin. Problems with sleep and episodes of depression are not seen in people with dopa-responsive dystonia caused by TH gene mutations, which is sometimes referred to as Segawa syndrome. Some people with dopa-responsive dystonia do not have an identified mutation in the GCH1, TH, or SPR gene. The cause of the condition in these individuals is unknown.",GHR,dopa-responsive dystonia +Is dopa-responsive dystonia inherited ?,"When dopa-responsive dystonia is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who inherit the altered GCH1 gene never develop features of dopa-responsive dystonia. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. For unknown reasons, dopa-responsive dystonia caused by mutations in the GCH1 gene affects females two to four times more often than males. When TH gene mutations are responsible for causing dopa-responsive dystonia, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When dopa-responsive dystonia is caused by mutations in the SPR gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance.",GHR,dopa-responsive dystonia +What are the treatments for dopa-responsive dystonia ?,"These resources address the diagnosis or management of dopa-responsive dystonia: - Dartmouth-Hitchcock Children's Hospital at Dartmouth - Gene Review: Gene Review: Dystonia Overview - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia - Genetic Testing Registry: Dystonia 5, Dopa-responsive type - Genetic Testing Registry: Segawa syndrome, autosomal recessive - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,dopa-responsive dystonia +What is (are) prekallikrein deficiency ?,"Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons. A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.",GHR,prekallikrein deficiency +How many people are affected by prekallikrein deficiency ?,"The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.",GHR,prekallikrein deficiency +What are the genetic changes related to prekallikrein deficiency ?,"Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. Plasma kallikrein plays a role in a process called the intrinsic coagulation pathway (also called the contact activation pathway). This pathway turns on (activates) proteins that are needed later in the clotting process. Blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. The KLKB1 gene mutations that cause prekallikrein deficiency reduce or eliminate functional plasma kallikrein, which likely impairs the intrinsic coagulation pathway. Researchers suggest that this lack (deficiency) of functional plasma kallikrein protein does not generally cause any symptoms because another process called the extrinsic coagulation pathway (also known as the tissue factor pathway) can compensate for the impaired intrinsic coagulation pathway.",GHR,prekallikrein deficiency +Is prekallikrein deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,prekallikrein deficiency +What are the treatments for prekallikrein deficiency ?,These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,prekallikrein deficiency +What is (are) mitochondrial neurogastrointestinal encephalopathy disease ?,"Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time. Abnormalities of the digestive system are among the most common and severe features of MNGIE disease. Almost all affected people have a condition known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety) after eating only a small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, episodes of abdominal pain, diarrhea, and intestinal blockage. These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia). MNGIE disease is also characterized by abnormalities of the nervous system, although these tend to be milder than the gastrointestinal problems. Affected individuals experience tingling, numbness, and weakness in their limbs (peripheral neuropathy), particularly in the hands and feet. Additional neurological signs and symptoms can include droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms in people with this disorder.",GHR,mitochondrial neurogastrointestinal encephalopathy disease +How many people are affected by mitochondrial neurogastrointestinal encephalopathy disease ?,The prevalence of MNGIE disease is unknown. About 70 people with this disorder have been reported.,GHR,mitochondrial neurogastrointestinal encephalopathy disease +What are the genetic changes related to mitochondrial neurogastrointestinal encephalopathy disease ?,"Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. Thymidine phosphorylase breaks down thymidine into smaller molecules, which helps regulate the level of nucleosides in cells. TYMP mutations greatly reduce or eliminate the activity of thymidine phosphorylase. A shortage of this enzyme allows thymidine to build up to very high levels in the body. Researchers believe that an excess of this molecule is damaging to a particular kind of DNA known as mitochondrial DNA or mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA as needed. A loss of thymidine phosphorylase activity and the resulting buildup of thymidine disrupt the usual maintenance and repair of mtDNA. As a result, mutations can accumulate in mtDNA, causing it to become unstable. Additionally, mitochondria may have less mtDNA than usual (mtDNA depletion). These genetic changes impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems characteristic of MNGIE disease, it is unclear how defective mitochondria cause the specific features of the disorder.",GHR,mitochondrial neurogastrointestinal encephalopathy disease +Is mitochondrial neurogastrointestinal encephalopathy disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mitochondrial neurogastrointestinal encephalopathy disease +What are the treatments for mitochondrial neurogastrointestinal encephalopathy disease ?,These resources address the diagnosis or management of MNGIE disease: - Gene Review: Gene Review: Mitochondrial Neurogastrointestinal Encephalopathy Disease - Genetic Testing Registry: Myoneural gastrointestinal encephalopathy syndrome - MedlinePlus Encyclopedia: Leukoencephalopathy (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mitochondrial neurogastrointestinal encephalopathy disease +What is (are) fish-eye disease ?,"Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.",GHR,fish-eye disease +How many people are affected by fish-eye disease ?,Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature.,GHR,fish-eye disease +What are the genetic changes related to fish-eye disease ?,"Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). LCAT gene mutations that cause fish-eye disease impair alpha-LCAT activity, reducing the enzyme's ability to attach cholesterol to HDL. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol-containing opacities in the corneas. It is not known why the cholesterol deposits affect only the corneas in this disorder. Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body.",GHR,fish-eye disease +Is fish-eye disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,fish-eye disease +What are the treatments for fish-eye disease ?,These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fish-eye disease +What is (are) Fabry disease ?,"Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.",GHR,Fabry disease +How many people are affected by Fabry disease ?,"Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This disorder also occurs in females, although the prevalence is unknown. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.",GHR,Fabry disease +What are the genetic changes related to Fabry disease ?,"Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.",GHR,Fabry disease +Is Fabry disease inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or rarely may cause no symptoms at all. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives. A small percentage of females who carry a mutation in one copy of the GLA gene never develop signs and symptoms of Fabry disease.",GHR,Fabry disease +What are the treatments for Fabry disease ?,These resources address the diagnosis or management of Fabry disease: - Baby's First Test - Gene Review: Gene Review: Fabry Disease - Genetic Testing Registry: Fabry disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Fabry disease +What is (are) MEGDEL syndrome ?,"MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L). MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome is one of a group of metabolic disorders that can be diagnosed by presence of this feature. People with MEGDEL syndrome also have high urine levels of another acid called 3-methylglutaric acid. In infancy, individuals with MEGDEL syndrome develop hearing loss caused by changes in the inner ear (sensorineural deafness); the hearing problems gradually worsen over time. Another feature of MEGDEL syndrome is brain dysfunction (encephalopathy). In infancy, encephalopathy leads to difficulty feeding, an inability to grow and gain weight at the expected rate (failure to thrive), and weak muscle tone (hypotonia). Infants with MEGDEL syndrome later develop involuntary muscle tensing (dystonia) and muscle stiffness (spasticity), which worsen over time. Because of these brain and muscle problems, affected babies have delayed development of mental and movement abilities (psychomotor delay), or they may lose skills they already developed. Individuals with MEGDEL syndrome have intellectual disability and never learn to speak. People with MEGDEL syndrome have changes in the brain that resemble those in another condition called Leigh syndrome. These changes, which can be seen with medical imaging, are referred to as Leigh-like disease. Other features that occur commonly in MEGDEL syndrome include low blood sugar (hypoglycemia) in affected newborns; liver problems (hepatopathy) in infancy, which can be serious but improve by early childhood; and episodes of abnormally high amounts of lactic acid in the blood (lactic acidosis). The life expectancy of individuals with MEGDEL syndrome is unknown. Because of the severe health problems caused by the disorder, some affected individuals do not survive past infancy.",GHR,MEGDEL syndrome +How many people are affected by MEGDEL syndrome ?,MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature.,GHR,MEGDEL syndrome +What are the genetic changes related to MEGDEL syndrome ?,"MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. Another phospholipid called cardiolipin is made from phosphatidylglycerol. Cardiolipin is a component of the membrane that surrounds cellular structures called mitochondria, which convert the energy from food into a form that cells can use, and is important for the proper functioning of these structures. SERAC1 gene mutations involved in MEGDEL syndrome lead to little or no SERAC1 protein function. As a result, phosphatidylglycerol remodeling is impaired, which likely alters the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production and leading to the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine, although it is thought to be related to mitochondrial dysfunction.",GHR,MEGDEL syndrome +Is MEGDEL syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,MEGDEL syndrome +What are the treatments for MEGDEL syndrome ?,"These resources address the diagnosis or management of MEGDEL syndrome: - Baby's First Test: 3-Methylglutaconic Aciduria - Gene Review: Gene Review: MEGDEL Syndrome - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,MEGDEL syndrome +What is (are) DMD-associated dilated cardiomyopathy ?,"DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with DMD-associated dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly. Dilated cardiomyopathy is a feature of two related conditions that are also caused by mutations in the DMD gene: Duchenne and Becker muscular dystrophy. In addition to heart disease, these conditions are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles). People with DMD-associated dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, DMD-associated dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.",GHR,DMD-associated dilated cardiomyopathy +How many people are affected by DMD-associated dilated cardiomyopathy ?,"DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.",GHR,DMD-associated dilated cardiomyopathy +What are the genetic changes related to DMD-associated dilated cardiomyopathy ?,"DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of DMD-associated dilated cardiomyopathy. The mutations that cause DMD-associated dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles. Because DMD-associated dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy.",GHR,DMD-associated dilated cardiomyopathy +Is DMD-associated dilated cardiomyopathy inherited ?,"DMD-associated dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that appears later in life. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes more severe signs and symptoms that occur earlier in life. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,DMD-associated dilated cardiomyopathy +What are the treatments for DMD-associated dilated cardiomyopathy ?,"These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B - Genetic Testing Registry: Duchenne muscular dystrophy - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,DMD-associated dilated cardiomyopathy +What is (are) pyruvate dehydrogenase deficiency ?,"Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.",GHR,pyruvate dehydrogenase deficiency +How many people are affected by pyruvate dehydrogenase deficiency ?,"Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown.",GHR,pyruvate dehydrogenase deficiency +What are the genetic changes related to pyruvate dehydrogenase deficiency ?,"The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells. The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex. The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex. Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity. With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.",GHR,pyruvate dehydrogenase deficiency +Is pyruvate dehydrogenase deficiency inherited ?,"Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked recessive pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would usually have to occur in both copies of the gene to cause the disorder. However, in pyruvate dehydrogenase deficiency, one altered copy of the PDHA1 gene is sufficient to cause the disorder, because the X chromosome with the normal copy of the PDHA1 gene is turned off through a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Research shows that females with pyruvate dehydrogenase deficiency caused by mutation of the PDHA1 gene have skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the PDHA1 gene in most cells of the body. This skewed X-inactivation causes the chromosome with the mutated PDHA1 gene to be expressed in more than half of cells. When caused by mutations in the other associated genes, pyruvate dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pyruvate dehydrogenase deficiency +What are the treatments for pyruvate dehydrogenase deficiency ?,These resources address the diagnosis or management of pyruvate dehydrogenase deficiency: - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency - Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency - Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pyruvate dehydrogenase deficiency +What is (are) Fryns syndrome ?,"Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants. Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small chin (micrognathia). Many also have low-set and abnormally shaped ears. Several additional features have been reported in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe developmental delay and intellectual disability.",GHR,Fryns syndrome +How many people are affected by Fryns syndrome ?,The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia.,GHR,Fryns syndrome +What are the genetic changes related to Fryns syndrome ?,"The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder.",GHR,Fryns syndrome +Is Fryns syndrome inherited ?,"Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.",GHR,Fryns syndrome +What are the treatments for Fryns syndrome ?,These resources address the diagnosis or management of Fryns syndrome: - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia - Gene Review: Gene Review: Fryns Syndrome - Genetic Testing Registry: Fryns syndrome - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Fryns syndrome +What is (are) Cockayne syndrome ?,"Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans. Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood.",GHR,Cockayne syndrome +How many people are affected by Cockayne syndrome ?,Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe.,GHR,Cockayne syndrome +What are the genetic changes related to Cockayne syndrome ?,"Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As more abnormalities build up in DNA, cells malfunction and eventually die. The increased cell death likely contributes to the features of Cockayne syndrome, such as growth failure and premature aging.",GHR,Cockayne syndrome +Is Cockayne syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Cockayne syndrome +What are the treatments for Cockayne syndrome ?,"These resources address the diagnosis or management of Cockayne syndrome: - Gene Review: Gene Review: Cockayne Syndrome - Genetic Testing Registry: Cockayne syndrome - Genetic Testing Registry: Cockayne syndrome type A - Genetic Testing Registry: Cockayne syndrome type C - Genetic Testing Registry: Cockayne syndrome, type B - MedlinePlus Encyclopedia: Failure to Thrive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Cockayne syndrome +What is (are) early-onset primary dystonia ?,"Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body.",GHR,early-onset primary dystonia +How many people are affected by early-onset primary dystonia ?,"Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people worldwide.",GHR,early-onset primary dystonia +What are the genetic changes related to early-onset primary dystonia ?,"A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It appears to be critical for the normal development and function of nerve cells in the brain. A mutation in the TOR1A gene alters the structure of torsinA. The altered protein's effect on the function of nerve cells in the brain is unclear. People with early-onset primary dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement. Researchers are working to determine how a change in this protein leads to the characteristic features of this disorder.",GHR,early-onset primary dystonia +Is early-onset primary dystonia inherited ?,"Mutations in the TOR1A gene are inherited in an autosomal dominant pattern, which means one of the two copies of the gene is altered in each cell. Many people who have a mutation in this gene are not affected by the disorder and may never know they have the mutation. Only 30 to 40 percent of people who inherit a TOR1A mutation will ever develop signs and symptoms of early-onset primary dystonia. Everyone who has been diagnosed with early-onset primary dystonia has inherited a TOR1A mutation from one parent. The parent may or may not have signs and symptoms of the condition, and other family members may or may not be affected.",GHR,early-onset primary dystonia +What are the treatments for early-onset primary dystonia ?,These resources address the diagnosis or management of early-onset primary dystonia: - Gene Review: Gene Review: DYT1 Early-Onset Primary Dystonia - Genetic Testing Registry: Dystonia 1 - MedlinePlus Encyclopedia: Movement - uncontrolled or slow These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,early-onset primary dystonia +What is (are) Andersen-Tawil syndrome ?,"Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). Two types of Andersen-Tawil syndrome are distinguished by their genetic causes. Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene. The remaining 40 percent of cases are designated as type 2; the cause of these cases is unknown.",GHR,Andersen-Tawil syndrome +How many people are affected by Andersen-Tawil syndrome ?,Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide.,GHR,Andersen-Tawil syndrome +What are the genetic changes related to Andersen-Tawil syndrome ?,"Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the developmental abnormalities often found in Andersen-Tawil syndrome.",GHR,Andersen-Tawil syndrome +Is Andersen-Tawil syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cases occur in people with no history of the disorder in their family.",GHR,Andersen-Tawil syndrome +What are the treatments for Andersen-Tawil syndrome ?,These resources address the diagnosis or management of Andersen-Tawil syndrome: - Gene Review: Gene Review: Andersen-Tawil Syndrome - Genetic Testing Registry: Andersen Tawil syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Andersen-Tawil syndrome +What is (are) Gitelman syndrome ?,"Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia. The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.",GHR,Gitelman syndrome +How many people are affected by Gitelman syndrome ?,"Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.",GHR,Gitelman syndrome +What are the genetic changes related to Gitelman syndrome ?,"Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.",GHR,Gitelman syndrome +Is Gitelman syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Gitelman syndrome +What are the treatments for Gitelman syndrome ?,These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Gitelman syndrome +What is (are) 16p11.2 deletion syndrome ?,"16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Some people with this disorder have recurrent seizures (epilepsy). Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities.",GHR,16p11.2 deletion syndrome +How many people are affected by 16p11.2 deletion syndrome ?,"Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. Other individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected. For this reason, the prevalence of this deletion in the general population is difficult to determine but has been estimated at approximately 3 in 10,000.",GHR,16p11.2 deletion syndrome +What are the genetic changes related to 16p11.2 deletion syndrome ?,"People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many cases little is known about their function. Researchers are working to determine how the missing genes contribute to the features of 16p11.2 deletion syndrome.",GHR,16p11.2 deletion syndrome +Is 16p11.2 deletion syndrome inherited ?,"16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition. However, most cases of 16p11.2 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the condition to their children. Several examples of inherited 16p11.2 deletion have been reported. In inherited cases, other family members may be affected as well.",GHR,16p11.2 deletion syndrome +What are the treatments for 16p11.2 deletion syndrome ?,"These resources address the diagnosis or management of 16p11.2 deletion syndrome: - Gene Review: Gene Review: 16p11.2 Recurrent Microdeletion - Genetic Testing Registry: 16p11.2 deletion syndrome - Genetic Testing Registry: Autism, susceptibility to, 14a These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,16p11.2 deletion syndrome +What is (are) Sjgren syndrome ?,"Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In Sjgren syndrome, the immune system primarily attacks the glands that produce tears (the lacrimal glands) and saliva (the salivary glands), impairing the glands' ability to secrete these fluids. Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel chalky or full of cotton, and affected individuals may have difficulty speaking, tasting food, or swallowing. Because saliva helps protect the teeth and the tissues of the oral cavity, people with Sjgren syndrome are at increased risk of tooth decay and infections in the mouth. In most people with Sjgren syndrome, dry eyes and dry mouth are the primary features of the disorder, and general health and life expectancy are largely unaffected. However, in some cases the immune system also attacks and damages other organs and tissues. This complication is known as extraglandular involvement. Affected individuals may develop inflammation in connective tissues, which provide strength and flexibility to structures throughout the body. Disorders involving connective tissue inflammation are sometimes called rheumatic conditions. In Sjgren syndrome, extraglandular involvement may result in painful inflammation of the joints and muscles; dry, itchy skin and skin rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and extreme tiredness (fatigue) severe enough to affect activities of daily living may also occur in this disorder. A small number of people with Sjgren syndrome develop lymphoma, a blood-related cancer that causes tumor formation in the lymph nodes. When Sjgren syndrome first occurs on its own, it is called primary Sjgren syndrome. Some individuals who are first diagnosed with another rheumatic disorder, such as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry eyes and dry mouth characteristic of Sjgren syndrome. In such cases, the individual is said to have secondary Sjgren syndrome. Other autoimmune disorders can also develop after the onset of primary Sjgren syndrome. In all, about half of all individuals with Sjgren syndrome also have another autoimmune disorder.",GHR,Sjgren syndrome +How many people are affected by Sjgren syndrome ?,"Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjgren syndrome about 10 times more often than men; the specific reason for this difference is unknown but likely involves the effects of sex hormones on immune system function.",GHR,Sjgren syndrome +What are the genetic changes related to Sjgren syndrome ?,"Sjgren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjgren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjgren syndrome, but that development of the condition may be triggered by something in the environment. In particular, viral or bacterial infections, which activate the immune system, may have the potential to encourage the development of Sjgren syndrome in susceptible individuals. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed.",GHR,Sjgren syndrome +Is Sjgren syndrome inherited ?,"A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this predisposition is unknown.",GHR,Sjgren syndrome +What are the treatments for Sjgren syndrome ?,These resources address the diagnosis or management of Sjgren syndrome: - Genetic Testing Registry: Sjgren's syndrome - MedlinePlus Encyclopedia: Schirmer's Test - National Institute of Dental and Craniofacial Research: Sjgren's Syndrome Clinic - Sjgren's Syndrome Foundation: Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Sjgren syndrome +What is (are) Werner syndrome ?,"Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as ""bird-like."" Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition. As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.",GHR,Werner syndrome +How many people are affected by Werner syndrome ?,"Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people.",GHR,Werner syndrome +What are the genetic changes related to Werner syndrome ?,"Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.",GHR,Werner syndrome +Is Werner syndrome inherited ?,"Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Werner syndrome +What are the treatments for Werner syndrome ?,These resources address the diagnosis or management of Werner syndrome: - Gene Review: Gene Review: Werner Syndrome - Genetic Testing Registry: Werner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Werner syndrome +What is (are) multiple system atrophy ?,"Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Both forms of multiple system atrophy are associated with abnormalities of the autonomic nervous system. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The signs and symptoms of the condition worsen with time, and affected individuals survive an average of 9 years after their diagnosis.",GHR,multiple system atrophy +How many people are affected by multiple system atrophy ?,"Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people.",GHR,multiple system atrophy +What are the genetic changes related to multiple system atrophy ?,"Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in several genes have been studied as possible risk factors for multiple system atrophy. The only confirmed genetic risk factors are variants in the SNCA gene. This gene provides instructions for making a protein called alpha-synuclein, which is abundant in normal brain cells but whose function is unknown. Studies suggest that several common variations in the SNCA gene are associated with an increased risk of multiple system atrophy in people of European descent. However, it is unclear how having one of these SNCA gene variants increases the risk of developing this condition. Researchers have also examined environmental factors that could contribute to the risk of multiple system atrophy. Initial studies suggested that exposure to solvents, certain types of plastic or metal, and other potential toxins might be associated with the condition. However, these associations have not been confirmed. Multiple system atrophy is characterized by clumps of abnormal alpha-synuclein protein that build up in cells in many parts of the brain and spinal cord. Over time, these clumps (which are known as inclusions) damage cells in parts of the nervous system that control movement, balance and coordination, and autonomic functioning. The progressive loss of cells in these regions underlies the major features of multiple system atrophy.",GHR,multiple system atrophy +Is multiple system atrophy inherited ?,"Most cases of multiple system atrophy are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance.",GHR,multiple system atrophy +What are the treatments for multiple system atrophy ?,These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple system atrophy +What is (are) Paget disease of bone ?,"Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs. Many people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease. Other complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking. A rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease. Early-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life.",GHR,Paget disease of bone +How many people are affected by Paget disease of bone ?,Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the disorder has been reported in only a few families.,GHR,Paget disease of bone +What are the genetic changes related to Paget disease of bone ?,"A combination of genetic and environmental factors likely play a role in causing Paget disease of bone. Researchers have identified changes in several genes that increase the risk of the disorder. Other factors, including infections with certain viruses, may be involved in triggering the disease in people who are at risk. However, the influence of genetic and environmental factors on the development of Paget disease of bone remains unclear. Researchers have identified variations in three genes that are associated with Paget disease of bone: SQSTM1, TNFRSF11A, and TNFRSF11B. Mutations in the SQSTM1 gene are the most common genetic cause of classic Paget disease of bone, accounting for 10 to 50 percent of cases that run in families and 5 to 30 percent of cases in which there is no family history of the disease. Variations in the TNFRSF11B gene also appear to increase the risk of the classic form of the disorder, particularly in women. TNFRSF11A mutations cause the early-onset form of Paget disease of bone. The SQSTM1, TNFRSF11A, and TNFRSF11B genes are involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Paget disease of bone disrupts the bone remodeling process. Affected bone is broken down abnormally and then replaced much faster than usual. When the new bone tissue grows, it is larger, weaker, and less organized than normal bone. It is unclear why these problems with bone remodeling affect some bones but not others in people with this disease. Researchers are looking for additional genes that may influence a person's chances of developing Paget disease of bone. Studies suggest that genetic variations in certain regions of chromosome 2, chromosome 5, and chromosome 10 appear to contribute to disease risk. However, the associated genes on these chromosomes have not been identified.",GHR,Paget disease of bone +Is Paget disease of bone inherited ?,"In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Paget disease of bone is unclear. Many affected people have no family history of the disease, although it sometimes clusters in families. Studies suggest that close relatives of people with classic Paget disease of bone are 7 to 10 times more likely to develop the disease than people without an affected relative. Early-onset Paget disease of bone is inherited in an autosomal dominant pattern. In people with this form of the disorder, having one altered copy of the TNFRSF11A gene in each cell is sufficient to cause the disease.",GHR,Paget disease of bone +What are the treatments for Paget disease of bone ?,"These resources address the diagnosis or management of Paget disease of bone: - Genetic Testing Registry: Osteitis deformans - Genetic Testing Registry: Paget disease of bone 4 - Genetic Testing Registry: Paget disease of bone, familial - MedlinePlus Encyclopedia: Paget's Disease of the Bone These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Paget disease of bone +What is (are) dystrophic epidermolysis bullosa ?,"Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. Researchers classify dystrophic epidermolysis bullosa into three major types. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS) is the most severe, classic form of the condition. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of progressive scarring can include fusion of the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. A second type of autosomal recessive dystrophic epidermolysis bullosa is known as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is somewhat less severe than the classic type and includes a range of subtypes. Blistering is limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Affected people often have malformed fingernails and toenails. Non-HS RDEB involves scarring in the areas where blisters occur, but this form of the condition does not cause the severe scarring characteristic of the classic type. The third major type of dystrophic epidermolysis bullosa is known as the autosomal dominant type (DDEB). The signs and symptoms of this condition tend to be milder than those of the autosomal recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.",GHR,dystrophic epidermolysis bullosa +How many people are affected by dystrophic epidermolysis bullosa ?,"Considered together, the incidence of all types of dystrophic epidermolysis bullosa is estimated to be 6.5 per million newborns in the United States. The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns.",GHR,dystrophic epidermolysis bullosa +What are the genetic changes related to dystrophic epidermolysis bullosa ?,"Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal. Researchers are working to determine how abnormalities of type VII collagen also underlie the increased risk of skin cancer seen in the severe form of dystrophic epidermolysis bullosa.",GHR,dystrophic epidermolysis bullosa +Is dystrophic epidermolysis bullosa inherited ?,"The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. A milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with autosomal dominant dystrophic epidermolysis bullosa have inherited an altered COL7A1 gene from an affected parent. The remaining 30 percent of affected people have the condition as a result of a new mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family.",GHR,dystrophic epidermolysis bullosa +What are the treatments for dystrophic epidermolysis bullosa ?,These resources address the diagnosis or management of dystrophic epidermolysis bullosa: - Gene Review: Gene Review: Dystrophic Epidermolysis Bullosa - Genetic Testing Registry: Dystrophic epidermolysis bullosa - Genetic Testing Registry: Generalized dominant dystrophic epidermolysis bullosa - Genetic Testing Registry: Recessive dystrophic epidermolysis bullosa - MedlinePlus Encyclopedia: Epidermolysis bullosa - MedlinePlus Encyclopedia: Squamous Cell Skin Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dystrophic epidermolysis bullosa +What is (are) Mainzer-Saldino syndrome ?,"Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals. Degeneration of the light-sensitive tissue at the back of the eye (the retina) almost always occurs in this disorder, but the age at which this feature develops varies. Some affected individuals are blind or have severe vision impairment beginning in infancy, with the pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some vision is retained into early adulthood. The vision loss in these affected individuals resembles a category of retinal disorders called rod-cone dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as such. However, the abnormal deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in Mainzer-Saldino syndrome. As a result, some researchers use terms such as ""atypical retinitis pigmentosa without pigment"" to describe the retinal degeneration that occurs in Mainzer-Saldino syndrome. The skeletal abnormality most characteristic of Mainzer-Saldino syndrome consists of cone-shaped ends of the bones (epiphyses) in the fingers (phalanges) that can be seen on x-ray images after the first year of life. Affected individuals may also have abnormalities of the thigh bones that occur in the epiphyses and adjacent areas where bone growth occurs (the metaphyses). Occasionally, other skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. Affected individuals may also have a small rib cage, which sometimes causes breathing problems in infancy, but the breathing problems are usually mild. A small number of individuals with this disorder have additional problems affecting other organs. These can include liver disease resulting in a buildup of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is difficulty with coordination and balance arising from problems with a part of the brain called the cerebellum; and mild intellectual disability.",GHR,Mainzer-Saldino syndrome +How many people are affected by Mainzer-Saldino syndrome ?,Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At least 20 cases have been reported.,GHR,Mainzer-Saldino syndrome +What are the genetic changes related to Mainzer-Saldino syndrome ?,"Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. Cilia are important for the structure and function of many types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina also contain cilia, which are essential for normal vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood. The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport (IFT). This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. IFT particles are made of proteins produced from related genes that belong to the IFT gene family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes at least six proteins, and complex B, which includes at least 15 proteins. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A). Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or affect its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies. While IFT140 gene mutations are believed to account for most cases of Mainzer-Saldino syndrome, mutations in additional genes that have not been identified may also cause this disorder.",GHR,Mainzer-Saldino syndrome +Is Mainzer-Saldino syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Mainzer-Saldino syndrome +What are the treatments for Mainzer-Saldino syndrome ?,These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Mainzer-Saldino syndrome +What is (are) fibronectin glomerulopathy ?,"Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and proteinuria, respectively). They also have high blood pressure (hypertension). Some affected individuals develop renal tubular acidosis, which occurs when the kidneys are unable to remove enough acid from the body and the blood becomes too acidic. The kidneys of people with fibronectin glomerulopathy have large deposits of the protein fibronectin-1 in structures called glomeruli. These structures are clusters of tiny blood vessels in the kidneys that filter waste products from blood. The waste products are then released in urine. The fibronectin-1 deposits impair the glomeruli's filtration ability. Fifteen to 20 years following the appearance of signs and symptoms, individuals with fibronectin glomerulopathy often develop end-stage renal disease. Affected individuals may receive treatment in the form of a kidney transplant; in some cases, fibronectin glomerulopathy comes back (recurs) following transplantation.",GHR,fibronectin glomerulopathy +How many people are affected by fibronectin glomerulopathy ?,"Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature.",GHR,fibronectin glomerulopathy +What are the genetic changes related to fibronectin glomerulopathy ?,"Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. During extracellular matrix formation, fibronectin-1 helps individual cells expand (spread) and move (migrate) to cover more space, and it also influences cell shape and maturation (differentiation). FN1 gene mutations lead to production of an abnormal fibronectin-1 protein that gets deposited in the glomeruli of the kidneys, probably as the body attempts to filter it out as waste. Even though there is an abundance of fibronectin-1 in the glomeruli, the extracellular matrix that supports the blood vessels is weak because the altered fibronectin-1 cannot assist in the matrix's continual formation. Without a strong cellular support network, the glomeruli are less able to filter waste. As a result, products that normally are retained by the body, such as protein and blood, get released in the urine, and acids are not properly filtered from the blood. Over time, the kidneys' ability to filter waste decreases until the kidneys can no longer function, resulting in end-stage renal disease. It is estimated that mutations in the FN1 gene are responsible for 40 percent of cases of fibronectin glomerulopathy. The cause of the remaining cases of this condition is unknown.",GHR,fibronectin glomerulopathy +Is fibronectin glomerulopathy inherited ?,"When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who have the altered FN1 gene never develop the condition, a situation known as reduced penetrance.",GHR,fibronectin glomerulopathy +What are the treatments for fibronectin glomerulopathy ?,These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fibronectin glomerulopathy +What is (are) familial porencephaly ?,"Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.",GHR,familial porencephaly +How many people are affected by familial porencephaly ?,"Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.",GHR,familial porencephaly +What are the genetic changes related to familial porencephaly ?,"Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth.",GHR,familial porencephaly +Is familial porencephaly inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,familial porencephaly +What are the treatments for familial porencephaly ?,These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial porencephaly +What is (are) Stve-Wiedemann syndrome ?,"Stve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia). In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia). In infants with Stve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stve-Wiedemann syndrome live into adolescence or later. Problems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex). Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.",GHR,Stve-Wiedemann syndrome +How many people are affected by Stve-Wiedemann syndrome ?,Stve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown.,GHR,Stve-Wiedemann syndrome +What are the genetic changes related to Stve-Wiedemann syndrome ?,"Stve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The LIFR protein acts as a receptor for a ligand known as leukemia inhibitory factor (LIF). LIFR signaling can control several cellular processes, including growth and division (proliferation), maturation (differentiation), and survival. First found to be important in blocking (inhibiting) growth of blood cancer (leukemia) cells, this signaling is also involved in the formation of bone and the development of nerve cells. It appears to play an important role in normal development and functioning of the autonomic nervous system. Most LIFR gene mutations that cause Stve-Wiedemann syndrome prevent production of any LIFR protein. Other mutations lead to production of an altered protein that likely cannot function. Without functional LIFR, signaling is impaired. The lack of LIFR signaling disrupts normal bone formation, leading to osteopenia, bowed legs, and other skeletal problems common in Stve-Wiedemann syndrome. In addition, development of nerve cells, particularly those involved in the autonomic nervous system, is abnormal, leading to the problems with breathing, feeding, and regulating body temperature characteristic of this condition. A small number of people with Stve-Wiedemann syndrome do not have an identified mutation in the LIFR gene. Researchers suggest that other genes that have not been identified may be involved in this condition.",GHR,Stve-Wiedemann syndrome +Is Stve-Wiedemann syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Stve-Wiedemann syndrome +What are the treatments for Stve-Wiedemann syndrome ?,These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Stve-Wiedemann syndrome +What is (are) biotinidase deficiency ?,"Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.",GHR,biotinidase deficiency +How many people are affected by biotinidase deficiency ?,"Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns",GHR,biotinidase deficiency +What are the genetic changes related to biotinidase deficiency ?,"Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. Mutations in the BTD gene reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup of potentially toxic compounds in the body. If the condition is not treated promptly, this buildup damages various cells and tissues, causing the signs and symptoms described above.",GHR,biotinidase deficiency +Is biotinidase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition.",GHR,biotinidase deficiency +What are the treatments for biotinidase deficiency ?,These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,biotinidase deficiency +What is (are) sialidosis ?,"Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. People with type I develop signs and symptoms of sialidosis in their teens or twenties. Initially, affected individuals experience problems walking (gait disturbance) and/or a loss of sharp vision (reduced visual acuity). Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. People with sialidosis type I eventually require wheelchair assistance. Affected individuals have progressive vision problems, including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. The features of congenital sialidosis type II can develop before birth. This form of sialidosis is associated with an abnormal buildup of fluid in the abdominal cavity (ascites) or widespread swelling before birth caused by fluid accumulation (hydrops fetalis). Affected infants may also have an enlarged liver and spleen (hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and distinctive facial features that are often described as ""coarse."" As a result of these serious health problems, individuals with congenital sialidosis type II usually are stillborn or die soon after birth. Infantile sialidosis type II shares some features with the congenital form, although the signs and symptoms are slightly less severe and begin within the first year of life. Features of the infantile form include hepatosplenomegaly, dysostosis multiplex, ""coarse"" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get older, they may develop myoclonus and cherry-red spots. Other signs and symptoms include hearing loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth. Affected individuals may survive into childhood or adolescence. The juvenile form has the least severe signs and symptoms of the different forms of sialidosis type II. Features of this condition usually appear in late childhood and may include mildly ""coarse"" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). The life expectancy of individuals with juvenile sialidosis type II varies depending on the severity of symptoms.",GHR,sialidosis +How many people are affected by sialidosis ?,The overall prevalence of sialidosis is unknown. Sialidosis type I appears to be more common in people with Italian ancestry.,GHR,sialidosis +What are the genetic changes related to sialidosis ?,"Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid. Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to build up inside lysosomes are called lysosomal storage disorders. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.",GHR,sialidosis +Is sialidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sialidosis +What are the treatments for sialidosis ?,"These resources address the diagnosis or management of sialidosis: - Genetic Testing Registry: Sialidosis type I - Genetic Testing Registry: Sialidosis, type II - MedlinePlus Encyclopedia: Ascites - MedlinePlus Encyclopedia: Hydrops Fetalis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,sialidosis +What is (are) Coffin-Siris syndrome ?,"Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly). Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.",GHR,Coffin-Siris syndrome +How many people are affected by Coffin-Siris syndrome ?,Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature.,GHR,Coffin-Siris syndrome +What are the genetic changes related to Coffin-Siris syndrome ?,"Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed. Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. Although it is unclear what effect mutations in these genes have on SWI/SNF complexes, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.",GHR,Coffin-Siris syndrome +Is Coffin-Siris syndrome inherited ?,"Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur during early embryonic development.",GHR,Coffin-Siris syndrome +What are the treatments for Coffin-Siris syndrome ?,These resources address the diagnosis or management of Coffin-Siris syndrome: - Gene Review: Gene Review: Coffin-Siris Syndrome - Genetic Testing Registry: Coffin-Siris syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Coffin-Siris syndrome +What is (are) Pompe disease ?,"Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.",GHR,Pompe disease +How many people are affected by Pompe disease ?,"Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.",GHR,Pompe disease +What are the genetic changes related to Pompe disease ?,"Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells. Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.",GHR,Pompe disease +Is Pompe disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Pompe disease +What are the treatments for Pompe disease ?,"These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testing Registry: Glycogen storage disease, type II These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Pompe disease +What is (are) dentatorubral-pallidoluysian atrophy ?,"Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).",GHR,dentatorubral-pallidoluysian atrophy +How many people are affected by dentatorubral-pallidoluysian atrophy ?,"DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe. Although DRPLA is rare in the United States, it has been studied in a large African American family from the Haw River area of North Carolina. When the family was first identified, researchers named the disorder Haw River syndrome. Later, researchers determined that Haw River syndrome and DRPLA are the same condition.",GHR,dentatorubral-pallidoluysian atrophy +What are the genetic changes related to dentatorubral-pallidoluysian atrophy ?,"DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that underlies DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, this segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times, and the repeat region may be two or three times its usual length. The abnormally long CAG trinucleotide repeat changes the structure of atrophin 1. This altered protein accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA.",GHR,dentatorubral-pallidoluysian atrophy +Is dentatorubral-pallidoluysian atrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. Larger repeat expansions are usually associated with an earlier onset of the disorder and more severe signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATN1 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).",GHR,dentatorubral-pallidoluysian atrophy +What are the treatments for dentatorubral-pallidoluysian atrophy ?,These resources address the diagnosis or management of DRPLA: - Gene Review: Gene Review: DRPLA - Genetic Testing Registry: Dentatorubral pallidoluysian atrophy - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dentatorubral-pallidoluysian atrophy +What is (are) X-linked sideroblastic anemia and ataxia ?,"X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms. X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals.",GHR,X-linked sideroblastic anemia and ataxia +How many people are affected by X-linked sideroblastic anemia and ataxia ?,X-linked sideroblastic anemia and ataxia is a rare disorder; only a few affected families have been reported.,GHR,X-linked sideroblastic anemia and ataxia +What are the genetic changes related to X-linked sideroblastic anemia and ataxia ?,"Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the formation of certain proteins containing clusters of iron and sulfur atoms. Overall, researchers believe that the ABCB7 protein helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells. ABCB7 mutations slightly alter the structure of the ABCB7 protein, disrupting its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, and therefore not enough hemoglobin is made. It is unclear how changes in the ABCB7 gene lead to ataxia and other problems with movement.",GHR,X-linked sideroblastic anemia and ataxia +Is X-linked sideroblastic anemia and ataxia inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an ABCB7 mutation can pass on the mutated gene but do not develop ataxia or other health problems associated with X-linked sideroblastic anemia and ataxia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.",GHR,X-linked sideroblastic anemia and ataxia +What are the treatments for X-linked sideroblastic anemia and ataxia ?,These resources address the diagnosis or management of X-linked sideroblastic anemia and ataxia: - Gene Review: Gene Review: X-Linked Sideroblastic Anemia and Ataxia - Genetic Testing Registry: Anemia sideroblastic and spinocerebellar ataxia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked sideroblastic anemia and ataxia +What is (are) hypercholesterolemia ?,"Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack. Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.",GHR,hypercholesterolemia +How many people are affected by hypercholesterolemia ?,"More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns.",GHR,hypercholesterolemia +What are the genetic changes related to hypercholesterolemia ?,"Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia. High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. Additional factors that impact cholesterol levels include a person's gender, age, and health problems such as diabetes and obesity. A small percentage of all people with high cholesterol have an inherited form of hypercholesterolemia. The most common cause of inherited high cholesterol is a condition known as familial hypercholesterolemia, which results from mutations in the LDLR gene. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. By removing low-density lipoproteins from the bloodstream, these receptors play a critical role in regulating cholesterol levels. Some LDLR mutations reduce the number of low-density lipoprotein receptors produced within cells. Other mutations disrupt the receptors' ability to remove low-density lipoproteins from the bloodstream. As a result, people with mutations in the LDLR gene have very high levels of blood cholesterol. As the excess cholesterol circulates through the bloodstream, it is deposited abnormally in tissues such as the skin, tendons, and arteries that supply blood to the heart. Less commonly, hypercholesterolemia can be caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. Changes in the APOB gene result in a form of inherited hypercholesterolemia known as familial defective apolipoprotein B-100 (FDB). LDLRAP1 mutations are responsible for another type of inherited high cholesterol, autosomal recessive hypercholesterolemia (ARH). Proteins produced from the APOB, LDLRAP1, and PCSK9 genes are essential for the normal function of low-density lipoprotein receptors. Mutations in any of these genes prevent the cell from making functional receptors or alter the receptors' function. Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively. Researchers are working to identify and characterize additional genes that may influence cholesterol levels and the risk of heart disease in people with hypercholesterolemia.",GHR,hypercholesterolemia +Is hypercholesterolemia inherited ?,"Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person typically inherits one altered copy of the gene from an affected parent and one normal copy of the gene from the other parent. Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the LDLR gene. This situation occurs when the person has two affected parents, each of whom passes on one altered copy of the gene. The presence of two LDLR mutations results in a more severe form of hypercholesterolemia that usually appears in childhood. When hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy of the altered gene, but their blood cholesterol levels are usually in the normal range.",GHR,hypercholesterolemia +What are the treatments for hypercholesterolemia ?,"These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic Testing Registry: Familial hypercholesterolemia - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, 3 - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, type B - Genetic Testing Registry: Hypercholesterolemia, autosomal recessive - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Familial hypercholesterolemia - MedlinePlus Encyclopedia: High blood cholesterol and triglycerides - MedlinePlus Encyclopedia: Xanthoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hypercholesterolemia +What is (are) glycogen storage disease type III ?,"Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition. Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver. Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.",GHR,glycogen storage disease type III +How many people are affected by glycogen storage disease type III ?,"The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types IIIc and IIId are very rare, and their signs and symptoms are poorly defined. Only a small number of affected individuals have been suspected to have GSD types IIIc and IIId.",GHR,glycogen storage disease type III +What are the genetic changes related to glycogen storage disease type III ?,"Mutations in the AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel. Most AGL gene mutations lead to the production of a nonfunctional glycogen debranching enzyme. These mutations typically cause GSD types IIIa and IIIb. The mutations that cause GSD types IIIc and IIId are thought to lead to the production of an enzyme with reduced function. All AGL gene mutations lead to storage of abnormal, partially broken down glycogen molecules within cells. A buildup of abnormal glycogen damages organs and tissues throughout the body, particularly the liver and muscles, leading to the signs and symptoms of GSDIII.",GHR,glycogen storage disease type III +Is glycogen storage disease type III inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,glycogen storage disease type III +What are the treatments for glycogen storage disease type III ?,These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glycogen storage disease type III +What is (are) tetrasomy 18p ?,"Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals. Babies with tetrasomy 18p often have trouble feeding and may vomit frequently, which makes it difficult for them to gain weight. Some affected infants also have breathing problems and jaundice, which is a yellowing of the skin and the whites of the eyes. Changes in muscle tone are commonly seen with tetrasomy 18p. Some affected children have weak muscle tone (hypotonia), while others have increased muscle tone (hypertonia) and stiffness (spasticity). These changes contribute to delayed development of motor skills, including sitting, crawling, and walking. Tetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose (philtrum), and a thin upper lip. Many affected individuals also have a high, arched roof of the mouth (palate), and a few have had a split in the roof of the mouth (cleft palate). Additional features of tetrasomy 18p can include seizures, vision problems, recurrent ear infections, mild to moderate hearing loss, constipation and other gastrointestinal problems, abnormal curvature of the spine (scoliosis or kyphosis), a shortage of growth hormone, and birth defects affecting the heart and other organs. Males with tetrasomy 18p may be born with undescended testes (cryptorchidism) or the opening of the urethra on the underside of the penis (hypospadias). Psychiatric conditions, such as attention deficit hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p.",GHR,tetrasomy 18p +How many people are affected by tetrasomy 18p ?,Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide.,GHR,tetrasomy 18p +What are the genetic changes related to tetrasomy 18p ?,"Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a version of chromosome 18 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. As a result, each cell has four copies of the short arm of chromosome 18. (The word ""tetrasomy"" is derived from ""tetra,"" the Greek word for ""four."") The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder.",GHR,tetrasomy 18p +Is tetrasomy 18p inherited ?,"Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family. However, rare inherited cases of tetrasomy 18p have been reported.",GHR,tetrasomy 18p +What are the treatments for tetrasomy 18p ?,"These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,tetrasomy 18p +What is (are) heterotaxy syndrome ?,"Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term ""heterotaxy"" is from the Greek words ""heteros,"" meaning ""other than,"" and ""taxis,"" meaning ""arrangement."" Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as ""situs solitus."" Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as ""situs inversus."" This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as ""situs ambiguus."" Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems. Heterotaxy syndrome alters the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth. Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. Heterotaxy syndrome is often life-threatening in infancy or childhood, even with treatment, although its severity depends on the specific abnormalities involved.",GHR,heterotaxy syndrome +How many people are affected by heterotaxy syndrome ?,"The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears to be more common in Asian populations than in North America and Europe. Recent studies report that in the United States, the condition occurs more frequently in children born to black or Hispanic mothers than in children born to white mothers.",GHR,heterotaxy syndrome +What are the genetic changes related to heterotaxy syndrome ?,"Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the earliest stages of embryonic development. Dozens of genes are probably involved in establishing left-right asymmetry; mutations in at least 20 of these genes have been identified in people with heterotaxy syndrome. In some cases, heterotaxy syndrome is caused by mutations in genes whose involvement in determining left-right asymmetry is unknown. Rarely, chromosomal changes such as insertions, deletions, duplications, and other rearrangements of genetic material have been associated with this condition. Heterotaxy syndrome can occur by itself, or it can be a feature of other genetic syndromes that have additional signs and symptoms. For example, at least 12 percent of people with a condition called primary ciliary dyskinesia have heterotaxy syndrome. In addition to abnormally positioned internal organs, primary ciliary dyskinesia is characterized by chronic respiratory tract infections and an inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia, which are microscopic, finger-like projections that stick out from the surface of cells. It appears that cilia play a critical role in establishing left-right asymmetry before birth. Studies suggest that certain factors affecting a woman during pregnancy may also contribute to the risk of heterotaxy syndrome in her child. These include diabetes mellitus; smoking; and exposure to hair dyes, cocaine, and certain laboratory chemicals. Some people with heterotaxy syndrome have no identified gene mutations or other risk factors. In these cases, the cause of the condition is unknown.",GHR,heterotaxy syndrome +Is heterotaxy syndrome inherited ?,"Most often, heterotaxy syndrome is sporadic, meaning that only one person in a family is affected. However, about 10 percent of people with heterotaxy syndrome have a close relative (such as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated congenital heart defects and heterotaxy syndrome may represent a range of signs and symptoms that can result from a particular genetic mutation; this situation is known as variable expressivity. It is also possible that different genetic and environmental factors combine to produce isolated congenital heart defects in some family members and heterotaxy syndrome in others. When heterotaxy syndrome runs in families, it can have an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance, depending on which gene is involved. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In X-linked inheritance, the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. When heterotaxy syndrome occurs as a feature of primary ciliary dyskinesia, it has an autosomal recessive pattern of inheritance.",GHR,heterotaxy syndrome +What are the treatments for heterotaxy syndrome ?,"These resources address the diagnosis or management of heterotaxy syndrome: - Boston Children's Hospital: Tests for Heterotaxy Syndrome - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome - Genetic Testing Registry: Heterotaxy syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,heterotaxy syndrome +What is (are) Niemann-Pick disease ?,"Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood. Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood. The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.",GHR,Niemann-Pick disease +How many people are affected by Niemann-Pick disease ?,"Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals. Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have mutations in the gene associated with Niemann-Pick disease type C1.",GHR,Niemann-Pick disease +What are the genetic changes related to Niemann-Pick disease ?,"Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Mutations in SMPD1 lead to a shortage of acid sphingomyelinase, which results in reduced break down of sphingomyelin, causing this fat to accumulate in cells. This fat buildup causes cells to malfunction and eventually die. Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B. Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved in the movement of lipids within cells. Mutations in these genes lead to a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their proper location in cells, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids as well as the cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease types C1 and C2.",GHR,Niemann-Pick disease +Is Niemann-Pick disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Niemann-Pick disease +What are the treatments for Niemann-Pick disease ?,"These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pick disease type C1 - Genetic Testing Registry: Niemann-Pick disease type C2 - Genetic Testing Registry: Niemann-Pick disease, type A - Genetic Testing Registry: Niemann-Pick disease, type B - Genetic Testing Registry: Niemann-Pick disease, type C - Genetic Testing Registry: Niemann-Pick disease, type D - Genetic Testing Registry: Niemann-pick disease, intermediate, protracted neurovisceral - Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis - MedlinePlus Encyclopedia: Niemann-Pick Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Niemann-Pick disease +What is (are) Emanuel syndrome ?,"Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.",GHR,Emanuel syndrome +How many people are affected by Emanuel syndrome ?,Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported.,GHR,Emanuel syndrome +What are the genetic changes related to Emanuel syndrome ?,"Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.",GHR,Emanuel syndrome +Is Emanuel syndrome inherited ?,"Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.",GHR,Emanuel syndrome +What are the treatments for Emanuel syndrome ?,These resources address the diagnosis or management of Emanuel syndrome: - Gene Review: Gene Review: Emanuel Syndrome - Genetic Testing Registry: Emanuel syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Preauricular Tag or Pit These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Emanuel syndrome +What is (are) actin-accumulation myopathy ?,"Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as ""floppy"" and may be unable to move on their own. The severe muscle weakness that occurs in actin-accumulation myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking. The name actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.",GHR,actin-accumulation myopathy +How many people are affected by actin-accumulation myopathy ?,Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.,GHR,actin-accumulation myopathy +What are the genetic changes related to actin-accumulation myopathy ?,"Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract. ACTA1 gene mutations that cause actin-accumulation myopathy may affect the way the skeletal -actin protein binds to ATP. ATP is a molecule that supplies energy for cells' activities, and is important in the formation of thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation and impair muscle contraction, leading to muscle weakness and the other signs and symptoms of actin-accumulation myopathy. In some people with actin-accumulation myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.",GHR,actin-accumulation myopathy +Is actin-accumulation myopathy inherited ?,"Actin-accumulation myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,actin-accumulation myopathy +What are the treatments for actin-accumulation myopathy ?,These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,actin-accumulation myopathy +What is (are) tarsal-carpal coalition syndrome ?,"Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family. In this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.",GHR,tarsal-carpal coalition syndrome +How many people are affected by tarsal-carpal coalition syndrome ?,"This condition is very rare; however, the exact prevalence is unknown.",GHR,tarsal-carpal coalition syndrome +What are the genetic changes related to tarsal-carpal coalition syndrome ?,"Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. The noggin protein attaches (binds) to proteins called bone morphogenetic proteins (BMPs), which keeps the BMPs from triggering signals for the development of bone. NOG gene mutations that cause tarsal-carpal coalition syndrome reduce the amount of functional noggin protein. With decreased noggin function, BMPs abnormally stimulate bone formation in joint areas, where there should be no bone, causing the bone fusions seen in people with tarsal-carpal coalition syndrome. Mutations in the NOG gene are involved in several disorders with overlapping signs and symptoms. Because of a shared genetic cause and overlapping features, researchers have suggested that these conditions, including tarsal-carpal coalition syndrome, represent a spectrum of related conditions referred to as NOG-related-symphalangism spectrum disorder (NOG-SSD).",GHR,tarsal-carpal coalition syndrome +Is tarsal-carpal coalition syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,tarsal-carpal coalition syndrome +What are the treatments for tarsal-carpal coalition syndrome ?,These resources address the diagnosis or management of tarsal-carpal coalition syndrome: - Foot Health Facts: Tarsal Coalition - Genetic Testing Registry: Tarsal carpal coalition syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,tarsal-carpal coalition syndrome +What is (are) carbamoyl phosphate synthetase I deficiency ?,"Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual disability. In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.",GHR,carbamoyl phosphate synthetase I deficiency +How many people are affected by carbamoyl phosphate synthetase I deficiency ?,"Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country.",GHR,carbamoyl phosphate synthetase I deficiency +What are the genetic changes related to carbamoyl phosphate synthetase I deficiency ?,"Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, which is a sequence of biochemical reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is broken down by the body, to make a compound called urea that is excreted by the kidneys. The specific role of the carbamoyl phosphate synthetase I enzyme is to control the first step of the urea cycle, a reaction in which excess nitrogen compounds are incorporated into the cycle to be processed. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the carbamoyl phosphate synthetase I enzyme is at low levels (deficient) or absent, and the urea cycle cannot proceed normally. As a result, nitrogen accumulates in the bloodstream in the form of toxic ammonia instead of being converted to less toxic urea and excreted. Ammonia is especially damaging to the brain, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency.",GHR,carbamoyl phosphate synthetase I deficiency +Is carbamoyl phosphate synthetase I deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,carbamoyl phosphate synthetase I deficiency +What are the treatments for carbamoyl phosphate synthetase I deficiency ?,"These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,carbamoyl phosphate synthetase I deficiency +What is (are) Camurati-Engelmann disease ?,"Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition.",GHR,Camurati-Engelmann disease +How many people are affected by Camurati-Engelmann disease ?,The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide.,GHR,Camurati-Engelmann disease +What are the genetic changes related to Camurati-Engelmann disease ?,"Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmann disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.",GHR,Camurati-Engelmann disease +Is Camurati-Engelmann disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Camurati-Engelmann disease +What are the treatments for Camurati-Engelmann disease ?,These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Camurati-Engelmann disease +What is (are) prolidase deficiency ?,"Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease. Characteristic facial features in people with prolidase deficiency include prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected children may experience delayed development, and about 75 percent of people with prolidase deficiency have intellectual disability that may range from mild to severe. People with prolidase deficiency often develop skin lesions, especially on their hands, feet, lower legs, and face. The severity of the skin involvement, which usually begins during childhood, may range from a mild rash to severe skin ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting in complications including infection and amputation. The severity of symptoms in prolidase deficiency varies greatly among affected individuals. Some people with this disorder do not have any symptoms. In these individuals the condition can be detected by laboratory tests such as newborn screening tests or tests offered to relatives of affected individuals.",GHR,prolidase deficiency +How many people are affected by prolidase deficiency ?,"Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations.",GHR,prolidase deficiency +What are the genetic changes related to prolidase deficiency ?,"Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). Specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase helps make them available for use in producing proteins that the body needs. Prolidase is also involved in the final step of the breakdown of some proteins obtained through the diet and proteins that are no longer needed in the body. Prolidase is particularly important in the breakdown of collagens, a family of proteins that are rich in proline and hydroxyproline. Collagens are an important part of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. The extracellular matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen breakdown occurs during the maintenance (remodeling) of the extracellular matrix. PEPD gene mutations that cause prolidase deficiency result in the loss of prolidase enzyme activity. It is not well understood how the absence of prolidase activity causes the various signs and symptoms of prolidase deficiency. Researchers have suggested that accumulation of dipeptides that have not been broken down may lead to cell death. When cells die, their contents are released into the surrounding tissue, which could cause inflammation and lead to the skin problems seen in prolidase deficiency. Impaired collagen breakdown during remodeling of the extracellular matrix may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency might result from problems in processing neuropeptides, which are brain signaling proteins that are rich in proline. It is unclear how absence of prolidase activity results in the other features of prolidase deficiency.",GHR,prolidase deficiency +Is prolidase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,prolidase deficiency +What are the treatments for prolidase deficiency ?,These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,prolidase deficiency +What is (are) childhood myocerebrohepatopathy spectrum ?,"Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-). Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive). Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.",GHR,childhood myocerebrohepatopathy spectrum +How many people are affected by childhood myocerebrohepatopathy spectrum ?,The prevalence of childhood myocerebrohepatopathy spectrum is unknown.,GHR,childhood myocerebrohepatopathy spectrum +What are the genetic changes related to childhood myocerebrohepatopathy spectrum ?,"MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol ""reads"" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of MCHS.",GHR,childhood myocerebrohepatopathy spectrum +Is childhood myocerebrohepatopathy spectrum inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,childhood myocerebrohepatopathy spectrum +What are the treatments for childhood myocerebrohepatopathy spectrum ?,These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,childhood myocerebrohepatopathy spectrum +What is (are) familial paroxysmal kinesigenic dyskinesia ?,"Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, ""dance-like"" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age. In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures called benign infantile convulsions. These seizures usually develop in the first year of life and stop by age 3. When benign infantile convulsions are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign infantile convulsions, some have only familial paroxysmal kinesigenic dyskinesia, and others develop both.",GHR,familial paroxysmal kinesigenic dyskinesia +How many people are affected by familial paroxysmal kinesigenic dyskinesia ?,"Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females.",GHR,familial paroxysmal kinesigenic dyskinesia +What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ?,"Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). It is thought that PRRT2 gene mutations, which reduce the amount of PRRT2 protein, lead to abnormal neuronal signaling. Altered neuronal activity could underlie the movement problems associated with familial paroxysmal kinesigenic dyskinesia. Not everyone with this condition has a mutation in the PRRT2 gene. When no PRRT2 gene mutations are found, the cause of the condition is unknown.",GHR,familial paroxysmal kinesigenic dyskinesia +Is familial paroxysmal kinesigenic dyskinesia inherited ?,"This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,familial paroxysmal kinesigenic dyskinesia +What are the treatments for familial paroxysmal kinesigenic dyskinesia ?,These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial paroxysmal kinesigenic dyskinesia +What is (are) multiple cutaneous and mucosal venous malformations ?,"Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling. Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.",GHR,multiple cutaneous and mucosal venous malformations +How many people are affected by multiple cutaneous and mucosal venous malformations ?,"VMCM appears to be a rare disorder, although its prevalence is unknown.",GHR,multiple cutaneous and mucosal venous malformations +What are the genetic changes related to multiple cutaneous and mucosal venous malformations ?,"Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals needed for forming blood vessels (angiogenesis) and maintaining their structure. This signaling process facilitates communication between two types of cells within the walls of blood vessels, endothelial cells and smooth muscle cells. Communication between these two cell types is necessary to direct angiogenesis and ensure the structure and integrity of blood vessels. TEK gene mutations that cause VMCM result in a TEK receptor that is always turned on (overactive). An overactive TEK receptor is thought to disrupt the communication between endothelial cells and smooth muscle cells. It is unclear how a lack of communication between these cells causes venous malformations. These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are characteristic of VMCM.",GHR,multiple cutaneous and mucosal venous malformations +Is multiple cutaneous and mucosal venous malformations inherited ?,"VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Researchers have discovered that some VMCM lesions have one inherited and one somatic TEK gene mutation. It is not known if the somatic mutation occurs before or after the venous malformation forms. As lesions are localized and not all veins are malformed, it is thought that the inherited mutation alone is not enough to cause venous malformations. In most cases, an affected person has one parent with the condition.",GHR,multiple cutaneous and mucosal venous malformations +What are the treatments for multiple cutaneous and mucosal venous malformations ?,These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,multiple cutaneous and mucosal venous malformations +What is (are) isodicentric chromosome 15 syndrome ?,"Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Babies with isodicentric chromosome 15 syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing; many also have backflow of acidic stomach contents into the esophagus (gastroesophageal reflux). These feeding problems may make it difficult for them to gain weight. Intellectual disability in isodicentric chromosome 15 syndrome can range from mild to profound. Speech is usually delayed and often remains absent or impaired. Behavioral difficulties often associated with isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of autistic spectrum disorders, such as repeating the words of others (echolalia), difficulty with changes in routine, and problems with social interaction. About two-thirds of people with isodicentric chromosome 15 syndrome have seizures. In more than half of affected individuals, the seizures begin in the first year of life. About 40 percent of individuals with isodicentric chromosome 15 syndrome are born with eyes that do not look in the same direction (strabismus). Hearing loss in childhood is common and is usually caused by fluid buildup in the middle ear. This hearing loss is often temporary. However, if left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with this disorder. Other problems associated with isodicentric chromosome 15 syndrome in some affected individuals include minor genital abnormalities in males such as undescended testes (cryptorchidism) and a spine that curves to the side (scoliosis).",GHR,isodicentric chromosome 15 syndrome +How many people are affected by isodicentric chromosome 15 syndrome ?,"Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns.",GHR,isodicentric chromosome 15 syndrome +What are the genetic changes related to isodicentric chromosome 15 syndrome ?,"Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. In isodicentric chromosome 15 syndrome, the isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. Cells normally have two copies of each chromosome, one inherited from each parent. In people with isodicentric chromosome 15 syndrome, cells have the usual two copies of chromosome 15 plus the two extra copies of the segment of genetic material in the isodicentric chromosome. The extra genetic material disrupts the normal course of development, causing the characteristic features of this disorder. Some individuals with isodicentric chromosome 15 whose copied genetic material does not include the 15q11-q13 region do not show signs or symptoms of the condition.",GHR,isodicentric chromosome 15 syndrome +Is isodicentric chromosome 15 syndrome inherited ?,Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family.,GHR,isodicentric chromosome 15 syndrome +What are the treatments for isodicentric chromosome 15 syndrome ?,These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isodicentric chromosome 15 syndrome +What is (are) androgen insensitivity syndrome ?,"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organs (testes) that are undescended, which means they are abnormally located in the pelvis or abdomen. Undescended testes can become cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. They may be raised as males or as females, and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but are often infertile and tend to experience breast enlargement at puberty.",GHR,androgen insensitivity syndrome +How many people are affected by androgen insensitivity syndrome ?,"Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common.",GHR,androgen insensitivity syndrome +What are the genetic changes related to androgen insensitivity syndrome ?,"Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male.",GHR,androgen insensitivity syndrome +Is androgen insensitivity syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In genetic males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In genetic females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. The remaining cases result from a new mutation that can occur in the mother's egg cell before the child is conceived or during early fetal development.",GHR,androgen insensitivity syndrome +What are the treatments for androgen insensitivity syndrome ?,These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome - MedlinePlus Encyclopedia: Intersex - MedlinePlus Encyclopedia: Reifenstein Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,androgen insensitivity syndrome +What is (are) congenital bilateral absence of the vas deferens ?,"Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Cystic fibrosis causes progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of the vas deferens do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.",GHR,congenital bilateral absence of the vas deferens +How many people are affected by congenital bilateral absence of the vas deferens ?,This condition is responsible for 1 percent to 2 percent of all infertility in men.,GHR,congenital bilateral absence of the vas deferens +What are the genetic changes related to congenital bilateral absence of the vas deferens ?,"Mutations in the CFTR gene cause congenital bilateral absence of the vas deferens. More than half of all men with this condition have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. The protein made from the CFTR gene forms a channel that transports negatively charged particles called chloride ions into and out of cells. The flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky. This mucus clogs the vas deferens as they are forming, causing them to deteriorate before birth. In instances of congenital bilateral absence of the vas deferens without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.",GHR,congenital bilateral absence of the vas deferens +Is congenital bilateral absence of the vas deferens inherited ?,"When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Men with this condition who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased.",GHR,congenital bilateral absence of the vas deferens +What are the treatments for congenital bilateral absence of the vas deferens ?,These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclopedia: Infertility - MedlinePlus Encyclopedia: Pathway of sperm (image) - MedlinePlus Health Topic: Assisted Reproductive Technology These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital bilateral absence of the vas deferens +What is (are) Leber hereditary optic neuropathy ?,"Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent. Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as ""LHON plus."" In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.",GHR,Leber hereditary optic neuropathy +How many people are affected by Leber hereditary optic neuropathy ?,"The prevalence of LHON in most populations is unknown. It affects 1 in 30,000 to 50,000 people in northeast England and Finland.",GHR,Leber hereditary optic neuropathy +What are the genetic changes related to Leber hereditary optic neuropathy ?,"Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. The genes associated with LHON each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of LHON. A significant percentage of people with a mutation that causes LHON do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related health problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies have produced conflicting results. Researchers are also investigating whether changes in additional genes contribute to the development of signs and symptoms.",GHR,Leber hereditary optic neuropathy +Is Leber hereditary optic neuropathy inherited ?,"LHON has a mitochondrial pattern of inheritance, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Often, people who develop the features of LHON have no family history of the condition. Because a person may carry an mtDNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other problems associated with LHON. It is important to note that all females with an mtDNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.",GHR,Leber hereditary optic neuropathy +What are the treatments for Leber hereditary optic neuropathy ?,These resources address the diagnosis or management of Leber hereditary optic neuropathy: - Gene Review: Gene Review: Leber Hereditary Optic Neuropathy - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Leber's optic atrophy - MedlinePlus Encyclopedia: Blindness - MedlinePlus Encyclopedia: Blindness - Resources These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Leber hereditary optic neuropathy +What is (are) Netherton syndrome ?,"Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature. After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved. Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature. People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair. Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.",GHR,Netherton syndrome +How many people are affected by Netherton syndrome ?,"Netherton syndrome is estimated to affect 1 in 200,000 newborns.",GHR,Netherton syndrome +What are the genetic changes related to Netherton syndrome ?,"Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function. Mutations in the SPINK5 gene result in a LEKT1 protein that is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active and break down too many proteins in the stratum corneum. As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction that leads to allergies, asthma, and eczema.",GHR,Netherton syndrome +Is Netherton syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Netherton syndrome +What are the treatments for Netherton syndrome ?,These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Netherton syndrome +What is (are) Down syndrome ?,"Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia). Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals' speech and language develop later and more slowly than in children without Down syndrome, and affected individuals' speech may be more difficult to understand. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome usually develop this condition in their fifties or sixties.",GHR,Down syndrome +How many people are affected by Down syndrome ?,"Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.",GHR,Down syndrome +What are the genetic changes related to Down syndrome ?,"Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Affected individuals with this genetic change are said to have translocation Down syndrome. A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome. Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition.",GHR,Down syndrome +Is Down syndrome inherited ?,"Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells. People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, as this translocation is passed to the next generation, it can become unbalanced. People who inherit an unbalanced translocation involving chromosome 21 may have extra genetic material from chromosome 21, which causes Down syndrome. Like trisomy 21, mosaic Down syndrome is not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have the usual two copies of chromosome 21, and other cells have three copies of this chromosome.",GHR,Down syndrome +What are the treatments for Down syndrome ?,These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - National Down Syndrome Congress: Speech and Language - National Down Syndrome Society: Health Care - National Down Syndrome Society: Therapies and Development These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Down syndrome +What is (are) paroxysmal nocturnal hemoglobinuria ?,"Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both sexes equally, and can occur at any age, although it is most often diagnosed in young adulthood. People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are prematurely destroyed (hemolysis). Affected individuals may pass dark-colored urine due to the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal). The premature destruction of red blood cells results in a deficiency of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with paroxysmal nocturnal hemoglobinuria may also be prone to infections due to a deficiency of white blood cells. Abnormal platelets associated with paroxysmal nocturnal hemoglobinuria can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage). Individuals with paroxysmal nocturnal hemoglobinuria are at increased risk of developing cancer in blood-forming cells (leukemia). In some cases, people who have been treated for another blood disease called aplastic anemia may develop paroxysmal nocturnal hemoglobinuria.",GHR,paroxysmal nocturnal hemoglobinuria +How many people are affected by paroxysmal nocturnal hemoglobinuria ?,"Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people.",GHR,paroxysmal nocturnal hemoglobinuria +What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ?,"Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell membrane, thereby ensuring that these proteins are available when needed at the surface of the cell. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. In people with paroxysmal nocturnal hemoglobinuria, somatic mutations of the PIGA gene occur in blood-forming cells called hematopoietic stem cells, which are found mainly in the bone marrow. These mutations result in the production of abnormal blood cells. As the abnormal hematopoietic stem cells multiply, increasing numbers of abnormal blood cells are formed, alongside normal blood cells produced by normal hematopoietic stem cells. The premature destruction of red blood cells seen in paroxysmal nocturnal hemoglobinuria is caused by a component of the immune system called complement. Complement consists of a group of proteins that work together to destroy foreign invaders such as bacteria and viruses. To protect the individual's own cells from being destroyed, this process is tightly controlled by complement-regulating proteins. Complement-regulating proteins normally protect red blood cells from destruction by complement. In people with paroxysmal nocturnal hemoglobinuria, however, abnormal red blood cells are missing two important complement-regulating proteins that need the GPI anchor protein to attach them to the cell membrane. These red blood cells are prematurely destroyed, leading to hemolytic anemia. Research suggests that certain abnormal white blood cells that are also part of the immune system may mistakenly attack normal blood-forming cells, in a malfunction called an autoimmune process. In addition, abnormal hematopoietic stem cells in people with paroxysmal nocturnal hemoglobinuria may be less susceptible than normal cells to a process called apoptosis, which causes cells to self-destruct when they are damaged or unneeded. These features of the disorder may increase the proportion of abnormal blood cells in the body. The proportion of abnormal blood cells affects the severity of the signs and symptoms of paroxysmal nocturnal hemoglobinuria, including the risk of hemoglobinuria and thrombosis.",GHR,paroxysmal nocturnal hemoglobinuria +Is paroxysmal nocturnal hemoglobinuria inherited ?,"This condition is acquired, rather than inherited. It results from new mutations in the PIGA gene, and generally occurs in people with no previous history of the disorder in their family. The condition is not passed down to children of affected individuals.",GHR,paroxysmal nocturnal hemoglobinuria +What are the treatments for paroxysmal nocturnal hemoglobinuria ?,These resources address the diagnosis or management of paroxysmal nocturnal hemoglobinuria: - Duke University School of Medicine: Hemostasis & Thrombosis Center - Genetic Testing Registry: Paroxysmal nocturnal hemoglobinuria - MedlinePlus Encyclopedia: Paroxysmal nocturnal hemoglobinuria (PNH) - Memorial Sloan-Kettering Cancer Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,paroxysmal nocturnal hemoglobinuria +What is (are) congenital mirror movement disorder ?,"Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. People with congenital mirror movement disorder can have some difficulty with certain activities of daily living, particularly with those requiring different movements in each hand, such as typing on a keyboard. They may experience discomfort or pain in the upper limbs during prolonged use of the hands. The extent of the mirror movements in this disorder can vary, even within the same family. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements. The extent of the movements typically stay the same throughout the lifetime of an affected individual. Mirror movements can also occur in people who do not have congenital mirror movement disorder. Mild mirror movements are common during the normal development of young children and typically disappear before age 7. They can also develop later in life in people with neurodegenerative disorders such as Parkinson disease. Mirror movements may also be present in certain other conditions with a wider range of signs and symptoms (syndromes).",GHR,congenital mirror movement disorder +How many people are affected by congenital mirror movement disorder ?,Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed.,GHR,congenital mirror movement disorder +What are the genetic changes related to congenital mirror movement disorder ?,"Congenital mirror movement disorder can be caused by mutations in the DCC or RAD51 gene; mutations in these genes account for a total of about 35 percent of cases. Mutations in other genes that have not been identified likely account for other cases of this disorder. The DCC gene provides instructions for making a protein called the netrin-1 receptor, which is involved in the development of the nervous system. This receptor attaches (binds) to a substance called netrin-1, fitting together like a lock and its key. The binding of netrin-1 to its receptor triggers signaling that helps direct the growth of specialized nerve cell extensions called axons, which transmit nerve impulses that signal muscle movement. Normally, signals from each half of the brain control movements on the opposite side of the body. Binding of netrin-1 to its receptor inhibits axons from developing in ways that would carry movement signals from each half of the brain to the same side of the body. Mutations in the DCC gene result in an impaired or missing netrin-1 receptor protein. A shortage of functional netrin-1 receptor protein impairs control of axon growth during nervous system development. As a result, movement signals from each half of the brain are abnormally transmitted to both sides of the body, leading to mirror movements. The RAD51 gene provides instructions for making a protein that is also thought to be involved in the development of nervous system functions that control movement, but its role in this development is unclear. Mutations in the RAD51 gene result in a missing or impaired RAD51 protein, but it is unknown how a shortage of functional RAD51 protein affects nervous system development and leads to the signs and symptoms of congenital mirror movement disorder.",GHR,congenital mirror movement disorder +Is congenital mirror movement disorder inherited ?,"In most cases, including those caused by mutations in the DCC or RAD51 gene, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the altered gene. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance. Research suggests that in rare cases, this condition may be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,congenital mirror movement disorder +What are the treatments for congenital mirror movement disorder ?,"These resources address the diagnosis or management of congenital mirror movement disorder: - Gene Review: Gene Review: Congenital Mirror Movements - Genetic Testing Registry: Mirror movements 2 - Genetic Testing Registry: Mirror movements, congenital - KidsHealth: Occupational Therapy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital mirror movement disorder +What is (are) Knobloch syndrome ?,"Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence.",GHR,Knobloch syndrome +How many people are affected by Knobloch syndrome ?,"Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown.",GHR,Knobloch syndrome +What are the genetic changes related to Knobloch syndrome ?,"Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. Collagen XVIII is found in the basement membranes of several parts of the eye, including the vitreous and retina, among other tissues. Little is known about the function of this protein, but it appears to be involved in normal development of the eye. Several mutations in the COL18A1 gene have been identified in people with Knobloch syndrome. Most COL18A1 gene mutations lead to an abnormally short version of the genetic blueprint used to make the collagen XVIII protein. Although the process is unclear, the COL18A1 gene mutations result in the loss of collagen XVIII protein, which likely causes the signs and symptoms of Knobloch syndrome. When the condition is caused by COL18A1 gene mutations, it is sometimes referred to as Knobloch syndrome type I. Research indicates that mutations in at least two other genes that have not been identified may cause Knobloch syndrome types II and III. Although they are caused by alterations in different genes, the three types of the condition have similar signs and symptoms.",GHR,Knobloch syndrome +Is Knobloch syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Knobloch syndrome +What are the treatments for Knobloch syndrome ?,These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and Detachments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Knobloch syndrome +What is (are) potassium-aggravated myotonia ?,"Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.",GHR,potassium-aggravated myotonia +How many people are affected by potassium-aggravated myotonia ?,This condition appears to be rare; it has been reported in only a few individuals and families worldwide.,GHR,potassium-aggravated myotonia +What are the genetic changes related to potassium-aggravated myotonia ?,"Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. The influx of extra sodium ions triggers prolonged muscle contractions, which are the hallmark of myotonia.",GHR,potassium-aggravated myotonia +Is potassium-aggravated myotonia inherited ?,"Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,potassium-aggravated myotonia +What are the treatments for potassium-aggravated myotonia ?,These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,potassium-aggravated myotonia +What is (are) maternally inherited diabetes and deafness ?,"Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers.",GHR,maternally inherited diabetes and deafness +How many people are affected by maternally inherited diabetes and deafness ?,About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide.,GHR,maternally inherited diabetes and deafness +What are the genetic changes related to maternally inherited diabetes and deafness ?,"Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The MT-TL1, MT-TK, and MT-TE genes provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks (amino acids) into functioning proteins. The MT-TL1 gene provides instructions for making a specific form of tRNA that is designated as tRNALeu(UUR). During protein assembly, this molecule attaches to the amino acid leucine (Leu) and inserts it into the appropriate locations in the growing protein. Similarly, the protein produced from the MT-TK gene, called tRNALys, attaches to the amino acid lysine (Lys) and inserts it into proteins being assembled. Also, the protein produced from the MT-TE gene, called tRNAGlu, attaches to the amino acid glutamic acid (Glu) and adds it to growing proteins. These tRNA molecules are present only in mitochondria, and they help assemble proteins that are involved in producing energy for cells. In certain cells in the pancreas called beta cells, mitochondria also play a role in controlling the amount of sugar (glucose) in the bloodstream. In response to high glucose levels, mitochondria help trigger the release of insulin, which stimulates cells to take up glucose from the blood. Mutations in the MT-TL1, MT-TK, or MT-TE gene reduce the ability of tRNA to add amino acids to growing proteins, which slows protein production in mitochondria and impairs their functioning. Researchers believe that the disruption of mitochondrial function lessens the ability of mitochondria to help trigger insulin release. In people with this condition, diabetes results when the beta cells do not produce enough insulin to regulate blood sugar effectively. Researchers have not determined how the mutations lead to hearing loss or the other features of MIDD.",GHR,maternally inherited diabetes and deafness +Is maternally inherited diabetes and deafness inherited ?,"MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mtDNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mtDNA mutation.",GHR,maternally inherited diabetes and deafness +What are the treatments for maternally inherited diabetes and deafness ?,These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,maternally inherited diabetes and deafness +What is (are) Krabbe disease ?,"Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.",GHR,Krabbe disease +How many people are affected by Krabbe disease ?,"In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.",GHR,Krabbe disease +What are the genetic changes related to Krabbe disease ?,"Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease.",GHR,Krabbe disease +Is Krabbe disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Krabbe disease +What are the treatments for Krabbe disease ?,These resources address the diagnosis or management of Krabbe disease: - Baby's First Test - Gene Review: Gene Review: Krabbe Disease - Genetic Testing Registry: Galactosylceramide beta-galactosidase deficiency - MedlinePlus Encyclopedia: Krabbe disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Krabbe disease +What is (are) Simpson-Golabi-Behmel syndrome ?,"Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood. People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as ""coarse"" in older children and adults with this condition. Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs. Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence. About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumors in early childhood. The most common tumors are a rare form of kidney cancer called Wilms tumor and a cancerous tumor called a neuroblastoma that arises in developing nerve cells.",GHR,Simpson-Golabi-Behmel syndrome +How many people are affected by Simpson-Golabi-Behmel syndrome ?,The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 130 people worldwide have been diagnosed with this disorder.,GHR,Simpson-Golabi-Behmel syndrome +What are the genetic changes related to Simpson-Golabi-Behmel syndrome ?,"Mutations in the GPC3 gene are responsible for some cases of Simpson-Golabi-Behmel syndrome. This gene provides instructions for making a protein called glypican 3, which is involved in the regulation of cell growth and division (cell proliferation). Researchers believe that the GPC3 protein can also cause certain cells to self-destruct (undergo apoptosis) when they are no longer needed, which can help establish the body's shape. GPC3 mutations can delete part or all of the gene, or alter the structure of glypican 3. These mutations prevent the protein from performing its usual functions, which may contribute to an increased rate of cell growth and cell division starting before birth. It is unclear, however, how a shortage of functional glypican 3 causes overgrowth of the entire body and the other abnormalities characteristic of Simpson-Golabi-Behmel syndrome. Some individuals with Simpson-Golabi-Behmel syndrome do not have identified mutations in the GPC3 gene. In these cases, the cause of the condition is unknown.",GHR,Simpson-Golabi-Behmel syndrome +Is Simpson-Golabi-Behmel syndrome inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or it may cause no symptoms at all. Some females who have one altered copy of the GPC3 gene have distinctive facial features including an upturned nose, a wide mouth, and a prominent chin. Their fingernails may be malformed and they can have extra nipples. Skeletal abnormalities, including extra spinal bones (vertebrae), are also possible in affected females. Other females who carry one altered copy of the GPC3 gene do not have these features or any other medical problems associated with Simpson-Golabi-Behmel syndrome.",GHR,Simpson-Golabi-Behmel syndrome +What are the treatments for Simpson-Golabi-Behmel syndrome ?,These resources address the diagnosis or management of Simpson-Golabi-Behmel syndrome: - Gene Review: Gene Review: Simpson-Golabi-Behmel Syndrome Type 1 - Genetic Testing Registry: Simpson-Golabi-Behmel syndrome - MedlinePlus Encyclopedia: Diastasis Recti - MedlinePlus Encyclopedia: Macrosomia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Simpson-Golabi-Behmel syndrome +What is (are) surfactant dysfunction ?,"Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired. The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months. Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive). There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.",GHR,surfactant dysfunction +How many people are affected by surfactant dysfunction ?,"One type of surfactant dysfunction, SP-B deficiency, is estimated to occur in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction due to other causes is unknown.",GHR,surfactant dysfunction +What are the genetic changes related to surfactant dysfunction ?,"Surfactant dysfunction is caused by mutations in one of several genes, including SFTPB, SFTPC, and ABCA3. Each of these genes is involved in the production of surfactant. The production and release of surfactant is a complex process. The phospholipids and proteins that make up surfactant are packaged in cellular structures known as lamellar bodies. These structures are also important for some processing of surfactant proteins, which is necessary for the proteins to mature and become functional. Surfactant is released from the lung cells and spreads across the tissue that surrounds alveoli. This substance lowers surface tension, which keeps the alveoli from collapsing after exhalation and makes breathing easy. The SFTPB and SFTPC genes provide instructions for making surfactant protein-B (SP-B) and surfactant protein-C (SP-C), respectively, two of the four proteins in surfactant. These two proteins help spread the surfactant across the surface of the lung tissue, aiding in the surface tension-lowering property of surfactant. In addition, SP-B plays a role in the formation of lamellar bodies. Mutations in the SFTPB gene cause a type of surfactant dysfunction sometimes referred to as SP-B deficiency. These mutations lead to a reduction in or absence of mature SP-B. In addition, SFTPB gene mutations cause abnormal processing of SP-C, resulting in a lack of mature SP-C and a buildup of unprocessed forms of SP-C. These changes lead to abnormal surfactant composition and decreased surfactant function. The loss of functional surfactant raises surface tension in the alveoli, causing severe breathing problems. The combination of SP-B and SP-C dysfunction may explain why the signs and symptoms of SP-B deficiency are so severe. Mutations in the SFTPC gene are involved in a type of surfactant dysfunction sometimes called SP-C dysfunction. These mutations result in a reduction or absence of mature SP-C and the buildup of abnormal forms of SP-C. It is unclear which of these outcomes causes the signs and symptoms of SP-C dysfunction. Lack of mature SP-C can lead to abnormal composition of surfactant and decreased surfactant function. Alternatively, research suggests that abnormally processed SP-C proteins form the wrong three-dimensional shape and accumulate inside the lung cells. These misfolded proteins may trigger a cellular response that results in cell damage and death. This damage may disrupt surfactant production and release. The ABCA3 gene provides instructions for making a protein that is found in the membrane that surrounds lamellar bodies. The ABCA3 protein transports phospholipids into lamellar bodies where they form surfactant. The ABCA3 protein also appears to be involved in the formation of lamellar bodies. ABCA3 gene mutations, which cause a type of surfactant dysfunction sometimes referred to as ABCA3 deficiency, lead to reduction or absence of the protein's function. Without ABCA3 protein function, the transport of surfactant phospholipids is decreased. In addition, lamellar body formation is impaired, which causes abnormal processing of SP-B and SP-C. ABCA3 gene mutations result in abnormal surfactant composition and function. It has been suggested that mutations that eliminate ABCA3 protein function cause severe forms of surfactant dysfunction, and mutations that leave some residual ABCA3 activity cause milder forms of the condition.",GHR,surfactant dysfunction +Is surfactant dysfunction inherited ?,"Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When caused by mutations in the SFTPC gene, this condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases caused by changes in the SFTPC gene, an affected person inherits the mutation from one affected parent. The remainder result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,surfactant dysfunction +What are the treatments for surfactant dysfunction ?,"These resources address the diagnosis or management of surfactant dysfunction: - Children's Interstitial and Diffuse Lung Disease (chILD) Foundation: Surfactant Deficiency - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 1 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 2 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 4 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 5 - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Diagnosed? - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,surfactant dysfunction +What is (are) C3 glomerulopathy ?,"C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood. The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood. One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.",GHR,C3 glomerulopathy +How many people are affected by C3 glomerulopathy ?,"C3 glomerulopathy is very rare, affecting 1 to 2 per million people worldwide. It is equally common in men and women.",GHR,C3 glomerulopathy +What are the genetic changes related to C3 glomerulopathy ?,"C3 glomerulopathy is associated with changes in many genes. Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. The complement system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells. A specific mutation in one of the complement system-related genes, CFHR5, has been found to cause C3 glomerulopathy in people from the Mediterranean island of Cyprus. Mutation in the C3 and CFH genes, as well as other complement system-related genes, have been found to cause the condition in other populations. The known mutations account for only a small percentage of all cases of C3 glomerulopathy. In most cases, the cause of the condition is unknown. Several normal variants (polymorphisms) in complement system-related genes are associated with an increased likelihood of developing C3 glomerulopathy. In some cases, the increased risk is related to a group of specific variants in several genes, a combination known as a C3 glomerulopathy at-risk haplotype. While these polymorphisms increase the risk of C3 glomerulopathy, many people who inherit these genetic changes will never develop the condition. The genetic changes related to C3 glomerulopathy ""turn up,"" or increase the activation of, the complement system. The overactive system damages structures called glomeruli in the kidneys. These structures are clusters of tiny blood vessels that help filter waste products from the blood. Damage to glomeruli prevents the kidneys from filtering waste products normally and can lead to ESRD. Studies suggest that uncontrolled activation of the complement system also causes the other health problems that can occur with dense deposit disease, including acquired partial lipodystrophy and a buildup of drusen in the retina. Researchers are working to determine how these associated health problems are related to overactivity of the complement system. Studies suggest that C3 glomerulopathy can also result from the presence of specialized proteins called autoantibodies. Autoantibodies cause the condition by altering the activity of proteins involved in regulating the complement system.",GHR,C3 glomerulopathy +Is C3 glomerulopathy inherited ?,"Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. The connection between C3 glomerulopathy and autoimmune diseases is not fully understood.",GHR,C3 glomerulopathy +What are the treatments for C3 glomerulopathy ?,"These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: CFHR5 deficiency - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: Factor H deficiency - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,C3 glomerulopathy +What is (are) sepiapterin reductase deficiency ?,"Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time. People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.",GHR,sepiapterin reductase deficiency +How many people are affected by sepiapterin reductase deficiency ?,Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature.,GHR,sepiapterin reductase deficiency +What are the genetic changes related to sepiapterin reductase deficiency ?,"Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. SPR gene mutations disrupt the production of sepiapterin reductase. Most SPR gene mutations result in an enzyme with little or no function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, there are alternate pathways that do not use sepiapterin reductase for the production of tetrahydrobiopterin, but these pathways are not found in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin is produced in the brain, production of dopamine and serotonin is greatly reduced. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The lack of these two neurotransmitters causes the problems with movement and other features of sepiapterin reductase deficiency.",GHR,sepiapterin reductase deficiency +Is sepiapterin reductase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,sepiapterin reductase deficiency +What are the treatments for sepiapterin reductase deficiency ?,These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,sepiapterin reductase deficiency +What is (are) familial adenomatous polyposis ?,"Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.",GHR,familial adenomatous polyposis +How many people are affected by familial adenomatous polyposis ?,"The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals.",GHR,familial adenomatous polyposis +What are the genetic changes related to familial adenomatous polyposis ?,"Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most people with mutations in the APC gene will develop colorectal cancer, the number of polyps and the time frame in which they become malignant depend on the location of the mutation in the gene. Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.",GHR,familial adenomatous polyposis +Is familial adenomatous polyposis inherited ?,"Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.",GHR,familial adenomatous polyposis +What are the treatments for familial adenomatous polyposis ?,"These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Conditions - Gene Review: Gene Review: MUTYH-Associated Polyposis - GeneFacts: Familial Adenomatous Polyposis: Diagnosis - GeneFacts: Familial Adenomatous Polyposis: Management - Genetic Testing Registry: Desmoid disease, hereditary - Genetic Testing Registry: Familial adenomatous polyposis 1 - Genetic Testing Registry: Familial multiple polyposis syndrome - Genetic Testing Registry: MYH-associated polyposis - Genomics Education Programme (UK): Familial Adenomatous Polyposis - Genomics Education Programme (UK): MYH-Associated Polyposis - MedlinePlus Encyclopedia: Colon Cancer - MedlinePlus Encyclopedia: Colorectal polyps - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial adenomatous polyposis +What is (are) Lesch-Nyhan syndrome ?,"Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.",GHR,Lesch-Nyhan syndrome +How many people are affected by Lesch-Nyhan syndrome ?,"The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.",GHR,Lesch-Nyhan syndrome +What are the genetic changes related to Lesch-Nyhan syndrome ?,"Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a plentiful supply of building blocks for the production of DNA and RNA. HPRT1 gene mutations that cause Lesch-Nyhan syndrome result in a severe shortage (deficiency) or complete absence of hypoxanthine phosphoribosyltransferase 1. When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid. For unknown reasons, a deficiency of hypoxanthine phosphoribosyltransferase 1 is associated with low levels of a chemical messenger in the brain called dopamine. Dopamine transmits messages that help the brain control physical movement and emotional behavior, and its shortage may play a role in the movement problems and other features of this disorder. However, it is unclear how a shortage of hypoxanthine phosphoribosyltransferase 1 causes the neurological and behavioral problems characteristic of Lesch-Nyhan syndrome. Some people with HPRT1 gene mutations produce some functional enzyme. These individuals are said to have Lesch-Nyhan variant. The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome and do not include self-injury.",GHR,Lesch-Nyhan syndrome +Is Lesch-Nyhan syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Lesch-Nyhan syndrome +What are the treatments for Lesch-Nyhan syndrome ?,These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: Uric Acid Crystals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Lesch-Nyhan syndrome +What is (are) Warsaw breakage syndrome ?,"Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.",GHR,Warsaw breakage syndrome +How many people are affected by Warsaw breakage syndrome ?,Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.,GHR,Warsaw breakage syndrome +What are the genetic changes related to Warsaw breakage syndrome ?,"Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA and any mistakes that are made when DNA is copied. In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By helping repair mistakes in DNA and ensuring proper DNA replication, the ChlR1 enzyme is involved in maintaining the stability of a cell's genetic information. DDX11 gene mutations severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.",GHR,Warsaw breakage syndrome +Is Warsaw breakage syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Warsaw breakage syndrome +What are the treatments for Warsaw breakage syndrome ?,These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Warsaw breakage syndrome +What is (are) autosomal recessive hyper-IgE syndrome ?,"Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with AR-HIES also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with AR-HIES include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma. In some affected individuals, the immune system malfunctions and attacks the body's own tissues and organs, causing autoimmune disease. For example, autoimmunity can lead to abnormal destruction of red blood cells (hemolytic anemia) in people with AR-HIES. AR-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels are more than 10 times higher than normal. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with AR-HIES have such high levels of this protein. People with AR-HIES also have highly elevated numbers of certain white blood cells called eosinophils (hypereosinophilia). Eosinophils aid in the immune response and are involved in allergic reactions. Some people with AR-HIES have neurological problems, such as paralysis that affects the face or one side of the body (hemiplegia). Blockage of blood flow in the brain or abnormal bleeding in the brain, both of which can lead to stroke, can also occur in AR-HIES. People with AR-HIES have a greater-than-average risk of developing cancer, particularly cancers of the blood or skin.",GHR,autosomal recessive hyper-IgE syndrome +How many people are affected by autosomal recessive hyper-IgE syndrome ?,AR-HIES is a rare disorder whose prevalence is unknown.,GHR,autosomal recessive hyper-IgE syndrome +What are the genetic changes related to autosomal recessive hyper-IgE syndrome ?,"AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions is to help maintain the structure and integrity of immune cells called T cells and NK cells, which recognize and attack foreign invaders, particularly as these cells travel to sites of infection within the body. In addition, DOCK8 is involved in chemical signaling pathways that stimulate other immune cells called B cells to mature and produce antibodies, which are specialized proteins that attach to foreign particles and germs, marking them for destruction. DOCK8 gene mutations result in the production of little or no functional DOCK8 protein. Shortage of this protein impairs normal immune cell development and function. It is thought that T cells and NK cells lacking DOCK8 cannot maintain their shape as they move through dense spaces, such as those found within the skin. The abnormal cells die, resulting in reduced numbers of these cells. A shortage of these immune cells impairs the immune response to foreign invaders, accounting for the severe viral skin infections common in AR-HIES. A lack of DOCK8 also impairs B cell maturation and the production of antibodies. A lack of this type of immune response leads to recurrent respiratory tract infections in people with this disorder. It is unclear how DOCK8 gene mutations are involved in other features of AR-HIES, such as the elevation of IgE levels, autoimmunity, and neurological problems. Some people with AR-HIES do not have mutations in the DOCK8 gene. The genetic cause of the condition in these individuals is unknown.",GHR,autosomal recessive hyper-IgE syndrome +Is autosomal recessive hyper-IgE syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive hyper-IgE syndrome +What are the treatments for autosomal recessive hyper-IgE syndrome ?,These resources address the diagnosis or management of autosomal recessive hyper-IgE syndrome: - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E Syndrome - Merck Manual Professional Version: Hyperimmunoglobulin E Syndrome - PID UK: Hyperimmunoglobulin E Syndromes Treatment and Immunizations These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal recessive hyper-IgE syndrome +What is (are) giant congenital melanocytic nevus ?,"Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).",GHR,giant congenital melanocytic nevus +How many people are affected by giant congenital melanocytic nevus ?,"Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 newborns worldwide.",GHR,giant congenital melanocytic nevus +What are the genetic changes related to giant congenital melanocytic nevus ?,"NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Signals relayed by the N-Ras and BRAF proteins instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). To transmit signals, these proteins must be turned on; when the proteins are turned off, they do not relay signals to the cell's nucleus. The NRAS or BRAF gene mutations responsible for giant congenital melanocytic nevus are somatic, meaning that they are acquired during a person's lifetime and are present only in certain cells. These mutations occur early in embryonic development during the growth and division (proliferation) of cells that develop into melanocytes. Somatic NRAS or BRAF gene mutations cause the altered protein in affected cells to be constantly turned on (constitutively active) and relaying signals. The overactive protein may contribute to the development of giant congenital melanocytic nevus by allowing cells that develop into melanocytes to grow and divide uncontrollably, starting before birth.",GHR,giant congenital melanocytic nevus +Is giant congenital melanocytic nevus inherited ?,This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder.,GHR,giant congenital melanocytic nevus +What are the treatments for giant congenital melanocytic nevus ?,These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Outreach: Treatment Options - Primary Care Dermatology Society These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,giant congenital melanocytic nevus +What is (are) spinocerebellar ataxia type 36 ?,"Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals. Some people with SCA36 have abnormalities of the eye muscles, which can lead to involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble moving the eyes side-to-side (oculomotor apraxia), and droopy eyelids (ptosis). Sensorineural hearing loss, which is hearing loss caused by changes in the inner ear, may also occur in people with SCA36. Brain imaging of people with SCA36 shows progressive atrophy of various parts of the brain, particularly within the cerebellum, which is the area of the brain involved in coordinating movements. Over time, the loss of cells in the cerebellum causes the movement problems characteristic of SCA36. In older affected individuals, the frontal lobes of the brain may show atrophy resulting in loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Signs and symptoms of SCA36 typically begin in a person's forties or fifties but can appear anytime during adulthood. People with SCA36 have a normal lifespan and are usually mobile for 15 to 20 years after they are diagnosed.",GHR,spinocerebellar ataxia type 36 +How many people are affected by spinocerebellar ataxia type 36 ?,"Approximately 100 individuals with SCA36 have been reported in the scientific literature. Almost all of these individuals have been from two regions: western Japan and the Costa de Morte in Galicia, Spain.",GHR,spinocerebellar ataxia type 36 +What are the genetic changes related to spinocerebellar ataxia type 36 ?,"SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is composed of proteins and molecules of RNA, DNA's chemical cousin. The ribonucleoprotein complex is needed to make cellular structures called ribosomes, which process the cell's genetic instructions to create proteins. The NOP56 gene mutations that cause SCA36 involve a string of six DNA building blocks (nucleotides) located in an area of the gene known as intron 1. This string of six nucleotides (known as a hexanucleotide) is represented by the letters GGCCTG and normally appears multiple times in a row. In healthy individuals, GGCCTG is repeated 3 to 14 times within the gene. In people with SCA36, GGCCTG is repeated at least 650 times. It is unclear if 15 to 649 repeats of this hexanucleotide cause any signs or symptoms. To make proteins from the genetic instructions carried in genes, a molecule called messenger RNA (mRNA) is formed. This molecule acts as a genetic blueprint for protein production. However, a large increase in the number of GGCCTG repeats in the NOP56 gene disrupts the normal structure of NOP56 mRNA. Abnormal NOP56 mRNA molecules form clumps called RNA foci within the nucleus of neurons. Other proteins become trapped in the RNA foci, where they cannot function. These proteins may be important for controlling gene activity or protein production. Additionally, researchers believe that the large expansion of the hexanucleotide repeat in the NOP56 gene may reduce the activity of a nearby gene called MIR1292. The MIR1292 gene provides instructions for making a type of RNA that regulates the activity (expression) of genes that produce proteins called glutamate receptors. These proteins are found on the surface of neurons and allow these cells to communicate with one another. A decrease in the production of Mir1292 RNA can lead to an increase in the production of glutamate receptors. The increased receptor activity may overexcite neurons, which disrupts normal communication between cells and can contribute to ataxia. The combination of RNA foci and overly excited neurons likely leads to the death of these cells over time. Because the NOP56 gene is especially active in neurons in the cerebellum, these cells are particularly affected by expansion of the gene, leading to cerebellar atrophy. Deterioration in this part of the brain leads to ataxia and the other signs and symptoms of SCA36.",GHR,spinocerebellar ataxia type 36 +Is spinocerebellar ataxia type 36 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. In conditions that are caused by repeated segments of DNA, the number of repeats often increases when the altered gene is passed down from one generation to the next. Additionally, a larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Some families affected by SCA36 have demonstrated anticipation while others have not. When anticipation is observed in SCA36, the mutation is most often passed down from the affected father.",GHR,spinocerebellar ataxia type 36 +What are the treatments for spinocerebellar ataxia type 36 ?,These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36 - Genetic Testing Registry: Spinocerebellar ataxia 36 - Johns Hopkins Medicine: Ataxia - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinocerebellar ataxia type 36 +What is (are) Laing distal myopathy ?,"Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors. In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.",GHR,Laing distal myopathy +How many people are affected by Laing distal myopathy ?,"Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide.",GHR,Laing distal myopathy +What are the genetic changes related to Laing distal myopathy ?,"Mutations in the MYH7 gene cause Laing distal myopathy. The MYH7 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. In cardiac and skeletal muscle cells, the protein produced from the MYH7 gene forms part of a larger protein called type II myosin. This type of myosin generates the mechanical force that is needed for muscles to contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. The coordinated contraction and relaxation of skeletal muscles allow the body to move. It is unknown how mutations in the MYH7 gene cause progressive muscle weakness in people with Laing distal myopathy. Researchers have proposed that these mutations alter the structure of myosin in skeletal muscles, which prevents it from interacting with other proteins. The abnormal myosin gradually impairs the function of type I skeletal muscle fibers. In most people with Laing distal myopathy, the signs and symptoms of the disorder are limited to weakness of skeletal muscles. Although myosin made with the MYH7 protein is also found in cardiac muscle, it is unclear why heart problems are not a typical feature of this condition.",GHR,Laing distal myopathy +Is Laing distal myopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.",GHR,Laing distal myopathy +What are the treatments for Laing distal myopathy ?,"These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Laing distal myopathy +What is (are) Graves disease ?,"Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. In people with Graves disease, the thyroid is overactive and makes more hormones than the body needs. The condition usually appears in mid-adulthood, although it may occur at any age. Excess thyroid hormones can cause a variety of signs and symptoms. These include nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular heartbeat, hand tremors, frequent bowel movements or diarrhea, increased sweating and difficulty tolerating hot conditions, trouble sleeping, and weight loss in spite of an increased appetite. Affected women may have menstrual irregularities, such as an unusually light menstrual flow and infrequent periods. Some people with Graves disease develop an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and ""pulling back"" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss. A small percentage of people with Graves disease develop a skin abnormality called pretibial myxedema or Graves dermopathy. This abnormality causes the skin on the front of the lower legs and the tops of the feet to become thick, lumpy, and red. It is not usually painful.",GHR,Graves disease +How many people are affected by Graves disease ?,"Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States.",GHR,Graves disease +What are the genetic changes related to Graves disease ?,"Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Graves disease is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Graves disease, the immune system creates a protein (antibody) called thyroid-stimulating immunoglobulin (TSI). TSI signals the thyroid to increase its production of hormones abnormally. The resulting overactivity of the thyroid causes many of the signs and symptoms of Graves disease. Studies suggest that immune system abnormalities also underlie Graves ophthalmopathy and pretibial myxedema. People with Graves disease have an increased risk of developing other autoimmune disorders, including rheumatoid arthritis, pernicious anemia, systemic lupus erythematosus, Addison disease, celiac disease, type 1 diabetes, and vitiligo. Variations in many genes have been studied as possible risk factors for Graves disease. Some of these genes are part of a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Other genes that have been associated with Graves disease help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition. Other, nongenetic factors are also believed to play a role in Graves disease. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral or bacterial infections, certain medications, and having too much or too little iodine (a substance critical for thyroid hormone production). Smoking increases the risk of eye problems and is associated with more severe eye abnormalities in people with Graves disease.",GHR,Graves disease +Is Graves disease inherited ?,"The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition.",GHR,Graves disease +What are the treatments for Graves disease ?,"These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves disease, susceptibility to, X-linked 1 - Genetic Testing Registry: Graves' disease - Graves' Disease & Thyroid Foundation: Treatment Options - MedlinePlus Encyclopedia: TSI - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests - Thyroid Disease Manager: Diagnosis and Treatment of Graves Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Graves disease +What is (are) acral peeling skin syndrome ?,"Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term ""acral"" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.",GHR,acral peeling skin syndrome +How many people are affected by acral peeling skin syndrome ?,"Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed.",GHR,acral peeling skin syndrome +What are the genetic changes related to acral peeling skin syndrome ?,"Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment. TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of this protein. A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet probably because those areas tend to be heavily exposed to moisture and friction.",GHR,acral peeling skin syndrome +Is acral peeling skin syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,acral peeling skin syndrome +What are the treatments for acral peeling skin syndrome ?,"These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,acral peeling skin syndrome +What is (are) Marfan syndrome ?,"Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition. The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood.",GHR,Marfan syndrome +How many people are affected by Marfan syndrome ?,"The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide.",GHR,Marfan syndrome +What are the genetic changes related to Marfan syndrome ?,"Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.",GHR,Marfan syndrome +Is Marfan syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.",GHR,Marfan syndrome +What are the treatments for Marfan syndrome ?,These resources address the diagnosis or management of Marfan syndrome: - Gene Review: Gene Review: Marfan Syndrome - Genetic Testing Registry: Marfan syndrome - MarfanDX - MedlinePlus Encyclopedia: Aortic Dissection - MedlinePlus Encyclopedia: Marfan Syndrome - MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm - National Marfan Foundation: Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Marfan syndrome +What is (are) optic atrophy type 1 ?,"Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly. People with optic atrophy type 1 frequently have problems with color vision that make it difficult or impossible to distinguish between shades of blue and green. Other vision problems associated with this condition include a progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the nerve that relays visual information from the eye to the brain (optic nerve). Optic nerve pallor can be detected during an eye examination.",GHR,optic atrophy type 1 +How many people are affected by optic atrophy type 1 ?,"Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people.",GHR,optic atrophy type 1 +What are the genetic changes related to optic atrophy type 1 ?,"Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. The OPA1 protein plays a key role in the organization of the shape and structure of the mitochondria and in the self-destruction of cells (apoptosis). The OPA1 protein is also involved in a process called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the protein plays a role in the maintenance of the small amount of DNA within mitochondria, called mitochondrial DNA (mtDNA). Mutations in the OPA1 gene lead to overall dysfunction of mitochondria. The structure of the mitochondria become disorganized and cells are more susceptible to self-destruction. OPA1 gene mutations lead to mitochondria with reduced energy-producing capabilities. The maintenance of mtDNA is also sometimes impaired, resulting in mtDNA mutations. The vision problems experienced by people with optic atrophy type 1 are due to mitochondrial dysfunction, leading to the breakdown of structures that transmit visual information from the eyes to the brain. Affected individuals first experience a progressive loss of nerve cells within the retina, called retinal ganglion cells. The loss of these cells is followed by the degeneration (atrophy) of the optic nerve. The optic nerve is partly made up of specialized extensions of retinal ganglion cells called axons; when the retinal ganglion cells die, the optic nerve cannot transmit visual information to the brain normally. It is unclear why the OPA1 gene mutations that cause optic atrophy type 1 only affect the eyes. Retinal ganglion cells have many mitochondria and especially high energy requirements, which researchers believe may make them particularly vulnerable to mitochondrial dysfunction and decreases in energy production. Some individuals with optic atrophy type 1 do not have identified mutations in the OPA1 gene. In these cases, the cause of the condition is unknown.",GHR,optic atrophy type 1 +Is optic atrophy type 1 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,optic atrophy type 1 +What are the treatments for optic atrophy type 1 ?,These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,optic atrophy type 1 +What is (are) intestinal pseudo-obstruction ?,"Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features of this condition may include decreased muscle tone (hypotonia) or stiffness (spasticity), weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections. Intestinal pseudo-obstruction can occur at any time of life. Its symptoms may range from mild to severe. Some affected individuals may require nutritional support. Depending on the severity of the condition, such support may include nutritional supplements, a feeding tube, or intravenous feedings (parenteral nutrition).",GHR,intestinal pseudo-obstruction +How many people are affected by intestinal pseudo-obstruction ?,"Primary intestinal pseudo-obstruction is a rare disorder. Its prevalence is unknown. The prevalence of secondary intestinal pseudo-obstruction is also unknown, but it is believed to be more common than the primary form.",GHR,intestinal pseudo-obstruction +What are the genetic changes related to intestinal pseudo-obstruction ?,"In some individuals with primary intestinal pseudo-obstruction, the condition is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton. Some individuals with primary intestinal pseudo-obstruction have FLNA gene mutations that result in an abnormally short filamin A protein. Others have duplications or deletions of genetic material in the FLNA gene. Researchers believe that these genetic changes may impair the function of the filamin A protein, causing abnormalities in the cytoskeleton of nerve cells (neurons) in the gastrointestinal tract. These abnormalities interfere with the nerves' ability to produce the coordinated waves of muscle contractions (peristalsis) that move food through the digestive tract. Deletions or duplications of genetic material that affect the FLNA gene can also include adjacent genes on the X chromosome. Changes in adjacent genes may account for some of the other signs and symptoms that can occur with intestinal pseudo-obstruction. Secondary intestinal pseudo-obstruction may result from other disorders that damage muscles or nerves, such as Parkinson disease, diabetes, or muscular dystrophy. Additionally, the condition is a feature of an inherited disease called mitochondrial neurogastrointestinal encephalopathy disease (MNGIE disease) that affects the energy-producing centers of cells (mitochondria). Infections, surgery, or certain drugs can also cause secondary intestinal pseudo-obstruction. In some affected individuals, the cause of intestinal pseudo-obstruction is unknown. Studies suggest that in some cases the condition may result from mutations in other genes that have not been identified.",GHR,intestinal pseudo-obstruction +Is intestinal pseudo-obstruction inherited ?,"Intestinal pseudo-obstruction is often not inherited. When it does run in families, it can have different inheritance patterns. Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Intestinal pseudo-obstruction can also be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In other families it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When intestinal pseudo-obstruction is inherited in an autosomal dominant or autosomal recessive pattern, the genetic cause of the disorder is unknown. When intestinal pseudo-obstruction is a feature of MNGIE disease, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (mtDNA). Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In some cases, the inheritance pattern is unknown.",GHR,intestinal pseudo-obstruction +What are the treatments for intestinal pseudo-obstruction ?,"These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus - Genetic Testing Registry: Visceral myopathy familial with external ophthalmoplegia - Genetic Testing Registry: Visceral neuropathy familial - Genetic Testing Registry: Visceral neuropathy, familial, autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,intestinal pseudo-obstruction +What is (are) CATSPER1-related nonsyndromic male infertility ?,"CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. Men with CATSPER1-related nonsyndromic male infertility do not have any other symptoms related to this condition.",GHR,CATSPER1-related nonsyndromic male infertility +How many people are affected by CATSPER1-related nonsyndromic male infertility ?,The prevalence of CATSPER1-related nonsyndromic male infertility is unknown.,GHR,CATSPER1-related nonsyndromic male infertility +What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ?,"Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization. CATSPER1 gene mutations result in the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. Sperm cells missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. Sperm cells lacking functional CATSPER1 protein cannot push through the outside membrane of the egg cell. As a result, sperm cells cannot reach the inside of the egg cell to achieve fertilization.",GHR,CATSPER1-related nonsyndromic male infertility +Is CATSPER1-related nonsyndromic male infertility inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show symptoms of the condition. Males with two CATSPER1 gene mutations in each cell have CATSPER1-related nonsyndromic male infertility. Females with two CATSPER1 gene mutations in each cell have no symptoms because the mutations only affect sperm function, and women do not produce sperm.",GHR,CATSPER1-related nonsyndromic male infertility +What are the treatments for CATSPER1-related nonsyndromic male infertility ?,These resources address the diagnosis or management of CATSPER1-related nonsyndromic male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: CATSPER-Related Male Infertility - MedlinePlus Health Topic: Assisted Reproductive Technology - RESOLVE: The National Infertility Association: Semen Analysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,CATSPER1-related nonsyndromic male infertility +What is (are) mucolipidosis III alpha/beta ?,"Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta. People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or ""coarse"" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.",GHR,mucolipidosis III alpha/beta +How many people are affected by mucolipidosis III alpha/beta ?,"Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.",GHR,mucolipidosis III alpha/beta +What are the genetic changes related to mucolipidosis III alpha/beta ?,"Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often ""tagged"" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome. Mutations in the GNPTAB gene that cause mucolipidosis III alpha/beta result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III alpha/beta are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell. Mutations in the GNPTAB gene can also cause a similar but more severe disorder called mucolipidosis II alpha/beta. These mutations completely eliminate the function of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.",GHR,mucolipidosis III alpha/beta +Is mucolipidosis III alpha/beta inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucolipidosis III alpha/beta +What are the treatments for mucolipidosis III alpha/beta ?,These resources address the diagnosis or management of mucolipidosis III alpha/beta: - Gene Review: Gene Review: Mucolipidosis III Alpha/Beta - Genetic Testing Registry: Pseudo-Hurler polydystrophy - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mucolipidosis III alpha/beta +What is (are) catecholaminergic polymorphic ventricular tachycardia ?,"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood. If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.",GHR,catecholaminergic polymorphic ventricular tachycardia +How many people are affected by catecholaminergic polymorphic ventricular tachycardia ?,"The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.",GHR,catecholaminergic polymorphic ventricular tachycardia +What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ?,"CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in handling calcium within myocytes, which is critical for the regular contraction of these cells. Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.",GHR,catecholaminergic polymorphic ventricular tachycardia +Is catecholaminergic polymorphic ventricular tachycardia inherited ?,"When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new mutations in the RYR2 gene and occur in people with no history of the disorder in their family. When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,catecholaminergic polymorphic ventricular tachycardia +What are the treatments for catecholaminergic polymorphic ventricular tachycardia ?,"These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycardia - Genetic Testing Registry: Ventricular tachycardia, catecholaminergic polymorphic, 2 - MedlinePlus Encyclopedia: Fainting - MedlinePlus Encyclopedia: Ventricular Tachycardia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,catecholaminergic polymorphic ventricular tachycardia +What is (are) nonsyndromic hearing loss ?,"Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The various inheritance patterns of nonsyndromic hearing loss are described in more detail below. The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term ""deafness"" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss. Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.",GHR,nonsyndromic hearing loss +How many people are affected by nonsyndromic hearing loss ?,"Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss.",GHR,nonsyndromic hearing loss +What are the genetic changes related to nonsyndromic hearing loss ?,"The causes of nonsyndromic hearing loss are complex. Researchers have identified more than 90 genes that, when altered, are associated with nonsyndromic hearing loss. Many of these genes are involved in the development and function of the inner ear. Mutations in these genes contribute to hearing loss by interfering with critical steps in processing sound. Different mutations in the same gene can be associated with different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic forms. In many affected families, the factors contributing to hearing loss have not been identified. Most cases of nonsyndromic hearing loss are inherited in an autosomal recessive pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are designated DFNB1. The GJB2 gene provides instructions for making a protein called connexin 26, which is a member of the connexin protein family. Mutations in another connexin gene, GJB6, can also cause DFNB1. The GJB6 gene provides instructions for making a protein called connexin 30. Connexin proteins form channels called gap junctions, which allow communication between neighboring cells, including cells in the inner ear. Mutations in the GJB2 or GJB6 gene alter their respective connexin proteins, which changes the structure of gap junctions and may affect the function or survival of cells that are needed for hearing. The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations cause a form of the condition known as DFNB16. Mutations in more than 60 other genes can also cause autosomal recessive nonsyndromic hearing loss. Many of these gene mutations have been found in one or a few families. Nonsyndromic hearing loss can also be inherited in an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 and GJB6) can also cause autosomal recessive forms of the condition. Although no single gene is associated with a majority of autosomal dominant nonsyndromic hearing loss cases, mutations in a few genes, such as KCNQ4 and TECTA, are relatively common. Mutations in many of the other genes associated with autosomal dominant nonsyndromic hearing loss have been found in only one or a few families. X-linked and mitochondrial forms of nonsyndromic hearing loss are rare. About half of all X-linked cases are caused by mutations in the POU3F4 gene. This form of the condition is designated DFNX2. Mutations in at least three other genes have also been identified in people with X-linked nonsyndromic hearing loss. Mitochondrial forms of hearing loss result from changes in mitochondrial DNA (mtDNA). Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. Only a few mutations in mtDNA have been associated with hearing loss, and their role in the condition is still being studied. Mutations in some of the genes associated with nonsyndromic hearing loss can also cause syndromic forms of hearing loss, such as Usher syndrome (CDH23 and MYO7A, among others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in the same gene can cause isolated hearing loss in some individuals and hearing loss with additional signs and symptoms in others. In addition to genetic changes, hearing loss can result from environmental factors or a combination of genetic risk and a person's environmental exposures. Environmental causes of hearing loss include certain medications, specific infections before or after birth, and exposure to loud noise over an extended period. Age is also a major risk factor for hearing loss. Age-related hearing loss (presbyacusis) is thought to have both genetic and environmental influences.",GHR,nonsyndromic hearing loss +Is nonsyndromic hearing loss inherited ?,"As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss. Another 20 to 25 percent of nonsyndromic hearing loss has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Most people with autosomal dominant hearing loss inherit an altered copy of the gene from a parent who also has hearing loss. Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. Males with X-linked nonsyndromic hearing loss tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same gene mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Mitochondrial forms of the condition, which result from changes to mtDNA, account for less than 1 percent of all nonsyndromic hearing loss in the United States. These cases are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In some cases, hearing loss occurs in people with no history of the condition in their family. These cases are described as sporadic, and the cause of the hearing loss is often unknown. When hearing loss results from environmental factors, it is not inherited.",GHR,nonsyndromic hearing loss +What are the treatments for nonsyndromic hearing loss ?,"These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Testing Registry: Non-syndromic genetic deafness - MedlinePlus Encyclopedia: Age-related hearing loss - MedlinePlus Encyclopedia: Audiology - MedlinePlus Encyclopedia: Hearing loss - MedlinePlus Encyclopedia: Hearing or speech impairment - resources These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,nonsyndromic hearing loss +What is (are) congenital contractural arachnodactyly ?,"Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look ""crumpled,"" and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.",GHR,congenital contractural arachnodactyly +How many people are affected by congenital contractural arachnodactyly ?,"The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide.",GHR,congenital contractural arachnodactyly +What are the genetic changes related to congenital contractural arachnodactyly ?,"Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. Additionally, microfibrils regulate the activity of molecules called growth factors. Growth factors enable the growth and repair of tissues throughout the body. Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of a protein with impaired function. As a result, microfibril formation is reduced, which probably weakens the structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly.",GHR,congenital contractural arachnodactyly +Is congenital contractural arachnodactyly inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,congenital contractural arachnodactyly +What are the treatments for congenital contractural arachnodactyly ?,These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital contractural arachnodactyly +What is (are) Joubert syndrome ?,"Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of regions near the back of the brain called the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI. Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast or slow breathing in infancy and abnormal eye movements. Most affected individuals have delayed development and intellectual disability, which range from mild to severe. Distinctive facial features are also characteristic of Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth. Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss), kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), and hormone (endocrine) problems. When the characteristic features of Joubert syndrome occur in combination with one or more of these additional signs and symptoms, researchers refer to the condition as ""Joubert syndrome and related disorders (JSRD).""",GHR,Joubert syndrome +How many people are affected by Joubert syndrome ?,"Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed.",GHR,Joubert syndrome +What are the genetic changes related to Joubert syndrome ?,"Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). Mutations in the genes associated with Joubert syndrome and related disorders lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development. Although researchers believe that defective cilia are responsible for most of the features of these disorders, it remains unclear how they lead to specific developmental abnormalities. Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown.",GHR,Joubert syndrome +Is Joubert syndrome inherited ?,"Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern. In these cases, the causative gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Joubert syndrome +What are the treatments for Joubert syndrome ?,These resources address the diagnosis or management of Joubert syndrome: - Gene Review: Gene Review: Joubert Syndrome and Related Disorders - Genetic Testing Registry: Familial aplasia of the vermis - Genetic Testing Registry: Joubert syndrome 10 - Genetic Testing Registry: Joubert syndrome 2 - Genetic Testing Registry: Joubert syndrome 3 - Genetic Testing Registry: Joubert syndrome 4 - Genetic Testing Registry: Joubert syndrome 5 - Genetic Testing Registry: Joubert syndrome 6 - Genetic Testing Registry: Joubert syndrome 7 - Genetic Testing Registry: Joubert syndrome 8 - Genetic Testing Registry: Joubert syndrome 9 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Joubert syndrome +What is (are) fibrodysplasia ossificans progressiva ?,"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.",GHR,fibrodysplasia ossificans progressiva +How many people are affected by fibrodysplasia ossificans progressiva ?,"Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported.",GHR,fibrodysplasia ossificans progressiva +What are the genetic changes related to fibrodysplasia ossificans progressiva ?,"Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood. Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.",GHR,fibrodysplasia ossificans progressiva +Is fibrodysplasia ossificans progressiva inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In a small number of cases, an affected person has inherited the mutation from one affected parent.",GHR,fibrodysplasia ossificans progressiva +What are the treatments for fibrodysplasia ossificans progressiva ?,These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fibrodysplasia ossificans progressiva +What is (are) ataxia with oculomotor apraxia ?,"Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. There are multiple types of ataxia with oculomotor apraxia. The types are very similar but are caused by mutations in different genes. The two most common types (types 1 and 2) share features, in addition to ataxia and oculomotor apraxia, that include involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). In type 1, ataxia beings around age 4; in type 2, ataxia begins around age 15. Chorea and myoclonus tend to disappear gradually in type 1; these movement problems persist throughout life in type 2. Individuals with type 1 often develop wasting (atrophy) in their hands and feet, which further impairs movement. Nearly all individuals with ataxia with oculomotor apraxia develop neuropathy, which leads to absent reflexes and weakness. Neuropathy causes many individuals with this condition to require wheelchair assistance, typically 10 to 15 years after the start of movement problems. Intelligence is usually not affected by this condition, but some people have intellectual disability. People with ataxia with oculomotor apraxia type 1 tend to have decreased amounts of a protein called albumin, which transports molecules in the blood. This decrease in albumin likely causes an increase in the amount of cholesterol circulating in the bloodstream. Increased cholesterol levels may raise a person's risk of developing heart disease. People with ataxia with oculomotor apraxia type 2 have increased blood cholesterol, but they have normal albumin levels. Individuals with type 2 tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. (An increase in the level of this protein is normally seen in the bloodstream of pregnant women.) Affected individuals may also have high amounts of a protein called creatine phosphokinase (CPK) in their blood. This protein is found mainly in muscle tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia with oculomotor apraxia type 2 is unknown.",GHR,ataxia with oculomotor apraxia +How many people are affected by ataxia with oculomotor apraxia ?,"Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 individuals worldwide.",GHR,ataxia with oculomotor apraxia +What are the genetic changes related to ataxia with oculomotor apraxia ?,"Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair. Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads to the accumulation of breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. DNA damage that is not repaired causes the cell to be unstable and can lead to cell death. It is thought that nerve cells in the brain are particularly affected by cell death because these cells do not copy (replicate) themselves to replace cells that have been lost. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia. Mutations in other genes are responsible for the rare types of ataxia with oculomotor apraxia.",GHR,ataxia with oculomotor apraxia +Is ataxia with oculomotor apraxia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ataxia with oculomotor apraxia +What are the treatments for ataxia with oculomotor apraxia ?,These resources address the diagnosis or management of ataxia with oculomotor apraxia: - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1 - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2 - Genetic Testing Registry: Adult onset ataxia with oculomotor apraxia - Genetic Testing Registry: Ataxia-oculomotor apraxia 3 - Genetic Testing Registry: Ataxia-oculomotor apraxia 4 - Genetic Testing Registry: Spinocerebellar ataxia autosomal recessive 1 - MedlinePlus Encyclopedia: Apraxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ataxia with oculomotor apraxia +What is (are) SADDAN ?,"SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.",GHR,SADDAN +How many people are affected by SADDAN ?,This disorder is very rare; it has been described in only a small number of individuals worldwide.,GHR,SADDAN +What are the genetic changes related to SADDAN ?,"Mutations in the FGFR3 gene cause SADDAN. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to the disturbances in bone growth that are characteristic of this disorder. Researchers have not determined how the mutation disrupts brain development or causes acanthosis nigricans.",GHR,SADDAN +Is SADDAN inherited ?,"SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene and occurred in people with no history of the disorder in their family. No individuals with this disorder are known to have had children; therefore, the disorder has not been passed to the next generation.",GHR,SADDAN +What are the treatments for SADDAN ?,These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,SADDAN +What is (are) COL4A1-related brain small-vessel disease ?,"COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras. Some people with COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. Other eye problems experienced by people with COL4A1-related brain small-vessel disease include clouding of the lens of the eye (cataract) and the presence of arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye, leading to temporary vision loss. The severity of the condition varies greatly among affected individuals. Some individuals with COL4A1-related brain small-vessel disease do not have any signs or symptoms of the condition.",GHR,COL4A1-related brain small-vessel disease +How many people are affected by COL4A1-related brain small-vessel disease ?,"COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature.",GHR,COL4A1-related brain small-vessel disease +What are the genetic changes related to COL4A1-related brain small-vessel disease ?,"As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with COL4A1-related brain small-vessel disease, the vasculature in the brain weakens, which can lead to blood vessel breakage and stroke. Similar blood vessel weakness and breakage occurs in the eyes of some affected individuals.",GHR,COL4A1-related brain small-vessel disease +Is COL4A1-related brain small-vessel disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Rarely, new mutations in the gene occur in people with no history of the disorder in their family.",GHR,COL4A1-related brain small-vessel disease +What are the treatments for COL4A1-related brain small-vessel disease ?,These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,COL4A1-related brain small-vessel disease +What is (are) Stargardt macular degeneration ?,"Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.",GHR,Stargardt macular degeneration +How many people are affected by Stargardt macular degeneration ?,"Stargardt macular degeneration is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. The estimated prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 individuals.",GHR,Stargardt macular degeneration +What are the genetic changes related to Stargardt macular degeneration ?,"In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina. The ABCA4 protein transports potentially toxic substances out of photoreceptor cells. These substances form after phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Mutations in the ABCA4 gene prevent the ABCA4 protein from removing toxic byproducts from photoreceptor cells. These toxic substances build up and form lipofuscin in the photoreceptor cells and the surrounding cells of the retina, eventually causing cell death. Loss of cells in the retina causes the progressive vision loss characteristic of Stargardt macular degeneration. The ELOVL4 protein plays a role in making a group of fats called very long-chain fatty acids. The ELOVL4 protein is primarily active (expressed) in the retina, but is also expressed in the brain and skin. The function of very long-chain fatty acids within the retina is unknown. Mutations in the ELOVL4 gene lead to the formation of ELOVL4 protein clumps (aggregates) that build up and may interfere with retinal cell functions, ultimately leading to cell death.",GHR,Stargardt macular degeneration +Is Stargardt macular degeneration inherited ?,"Stargardt macular degeneration can have different inheritance patterns. When mutations in the ABCA4 gene cause this condition, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When this condition is caused by mutations in the ELOVL4 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Stargardt macular degeneration +What are the treatments for Stargardt macular degeneration ?,These resources address the diagnosis or management of Stargardt macular degeneration: - Genetic Testing Registry: Stargardt Disease 3 - Genetic Testing Registry: Stargardt disease 1 - Genetic Testing Registry: Stargardt disease 4 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Stargardt macular degeneration +What is (are) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?,"3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during periods without food (fasting). The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress. HMG-CoA lyase deficiency is sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,3-hydroxy-3-methylglutaryl-CoA lyase deficiency +How many people are affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?,"HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain.",GHR,3-hydroxy-3-methylglutaryl-CoA lyase deficiency +What are the genetic changes related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?,"Mutations in the HMGCL gene cause HMG-CoA lyase deficiency. The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats. Ketones are compounds that certain organs and tissues, particularly the brain, use for energy when the simple sugar glucose is not available. For example, ketones are important sources of energy during periods of fasting. If a mutation in the HMGCL gene reduces or eliminates the activity of HMG-CoA lyase, the body is unable to process leucine or make ketones properly. When leucine is not processed normally, a buildup of chemical byproducts called organic acids can result in metabolic acidosis. A shortage of ketones often leads to hypoglycemia. Metabolic acidosis and hypoglycemia can damage cells, particularly in the brain, resulting in serious illness in children with HMG-CoA lyase deficiency.",GHR,3-hydroxy-3-methylglutaryl-CoA lyase deficiency +Is 3-hydroxy-3-methylglutaryl-CoA lyase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-hydroxy-3-methylglutaryl-CoA lyase deficiency +What are the treatments for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?,These resources address the diagnosis or management of HMG-CoA lyase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of hydroxymethylglutaryl-CoA lyase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-hydroxy-3-methylglutaryl-CoA lyase deficiency +What is (are) Czech dysplasia ?,"Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss.",GHR,Czech dysplasia +How many people are affected by Czech dysplasia ?,The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic.,GHR,Czech dysplasia +What are the genetic changes related to Czech dysplasia ?,"Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.",GHR,Czech dysplasia +Is Czech dysplasia inherited ?,"Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition.",GHR,Czech dysplasia +What are the treatments for Czech dysplasia ?,These resources address the diagnosis or management of Czech dysplasia: - Genetic Testing Registry: Czech dysplasia metatarsal type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Czech dysplasia +What is (are) Miller-Dieker syndrome ?,"Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malformations cause severe intellectual disability, developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Seizures usually begin before six months of age, and some occur from birth. Typically, the smoother the surface of the brain is, the more severe the associated symptoms are. In addition to lissencephaly, people with Miller-Dieker syndrome tend to have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip. Some individuals with this condition also grow more slowly than other children. Rarely, affected individuals will have heart or kidney malformations or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. People with Miller-Dieker syndrome may also have life-threatening breathing problems. Most individuals with this condition do not survive beyond childhood.",GHR,Miller-Dieker syndrome +How many people are affected by Miller-Dieker syndrome ?,"Miller-Dieker syndrome appears to be a rare disorder, although its prevalence is unknown.",GHR,Miller-Dieker syndrome +What are the genetic changes related to Miller-Dieker syndrome ?,"Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers are working to identify all of the genes that contribute to the features of Miller-Dieker syndrome. They have determined that the loss of a particular gene on chromosome 17, PAFAH1B1, is responsible for the syndrome's characteristic sign of lissencephaly. The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in people with Miller-Dieker syndrome. Additional genes in the deleted region probably contribute to the varied features of Miller-Dieker syndrome.",GHR,Miller-Dieker syndrome +Is Miller-Dieker syndrome inherited ?,"Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. When Miller-Dieker syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 17 in each cell is sufficient to cause the condition. About 12 percent of people with Miller-Dieker syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with Miller-Dieker syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 17, which results in the health problems characteristic of this disorder.",GHR,Miller-Dieker syndrome +What are the treatments for Miller-Dieker syndrome ?,These resources address the diagnosis or management of Miller-Dieker syndrome: - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Genetic Testing Registry: Miller Dieker syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Miller-Dieker syndrome +What is (are) X-linked hyper IgM syndrome ?,"X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections. Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells. The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.",GHR,X-linked hyper IgM syndrome +How many people are affected by X-linked hyper IgM syndrome ?,X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys.,GHR,X-linked hyper IgM syndrome +What are the genetic changes related to X-linked hyper IgM syndrome ?,"Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies. CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with other immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system.",GHR,X-linked hyper IgM syndrome +Is X-linked hyper IgM syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked hyper IgM syndrome +What are the treatments for X-linked hyper IgM syndrome ?,These resources address the diagnosis or management of X-linked hyper IgM syndrome: - Gene Review: Gene Review: X-Linked Hyper IgM Syndrome - Genetic Testing Registry: Immunodeficiency with hyper IgM type 1 - MedlinePlus Encyclopedia: Immunodeficiency Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked hyper IgM syndrome +What is (are) myofibrillar myopathy ?,"Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).",GHR,myofibrillar myopathy +How many people are affected by myofibrillar myopathy ?,The prevalence of myofibrillar myopathy is unknown.,GHR,myofibrillar myopathy +What are the genetic changes related to myofibrillar myopathy ?,"Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The proteins associated with myofibrillar myopathy are normally active on rod-like structures within the sarcomere called Z-discs. Z-discs link neighboring sarcomeres together to form myofibrils, the basic unit of muscle fibers. The linking of sarcomeres and formation of myofibrils provide strength for muscle fibers during repeated muscle contraction and relaxation. Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres. As a result, muscle fiber strength is diminished. At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.",GHR,myofibrillar myopathy +Is myofibrillar myopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,myofibrillar myopathy +What are the treatments for myofibrillar myopathy ?,"These resources address the diagnosis or management of myofibrillar myopathy: - Gene Review: Gene Review: Myofibrillar Myopathy - Genetic Testing Registry: Alpha-B crystallinopathy - Genetic Testing Registry: Myofibrillar myopathy - Genetic Testing Registry: Myofibrillar myopathy 1 - Genetic Testing Registry: Myofibrillar myopathy, BAG3-related - Genetic Testing Registry: Myofibrillar myopathy, ZASP-related - Genetic Testing Registry: Myofibrillar myopathy, filamin C-related - Genetic Testing Registry: Myotilinopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,myofibrillar myopathy +What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ?,"2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with 2-methylbutyryl-CoA dehydrogenase deficiency have inadequate levels of an enzyme that helps process a particular amino acid called isoleucine. Health problems related to 2-methylbutyryl-CoA dehydrogenase deficiency vary widely from severe and life-threatening to mild or absent. Signs and symptoms of this disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and an irritable mood. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision problems, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking. Symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency may be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with this disorder never have any signs or symptoms (asymptomatic). For example, individuals of Hmong ancestry identified with 2-methylbutyryl-CoA dehydrogenase deficiency through newborn screening are usually asymptomatic.",GHR,2-methylbutyryl-CoA dehydrogenase deficiency +How many people are affected by 2-methylbutyryl-CoA dehydrogenase deficiency ?,"2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry.",GHR,2-methylbutyryl-CoA dehydrogenase deficiency +What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ?,"Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of 2-methylbutyryl-CoA dehydrogenase, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Also, an organic acid called 2-methylbutyrylglycine and related compounds may build up to harmful levels, causing serious health problems.",GHR,2-methylbutyryl-CoA dehydrogenase deficiency +Is 2-methylbutyryl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,2-methylbutyryl-CoA dehydrogenase deficiency +What are the treatments for 2-methylbutyryl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,2-methylbutyryl-CoA dehydrogenase deficiency +What is (are) Turner syndrome ?,"Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood. About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.",GHR,Turner syndrome +How many people are affected by Turner syndrome ?,"This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).",GHR,Turner syndrome +What are the genetic changes related to Turner syndrome ?,"Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome. Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.",GHR,Turner syndrome +Is Turner syndrome inherited ?,"Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome. Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.",GHR,Turner syndrome +What are the treatments for Turner syndrome ?,These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Turner syndrome +What is (are) Kufs disease ?,"Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. Two types of Kufs disease have been described: type A and type B. The two types are differentiated by their genetic cause, pattern of inheritance, and certain signs and symptoms. Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), impaired muscle coordination (ataxia), involuntary movements such as tremors or tics, and speech difficulties (dysarthria). Kufs disease type B shares many features with type A, but it is distinguished by changes in personality and is not associated with myoclonic epilepsy or dysarthria. The signs and symptoms of Kufs disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins. Kufs disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. These disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. Kufs disease, however, does not affect vision. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.",GHR,Kufs disease +How many people are affected by Kufs disease ?,"Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals have the condition. Kufs disease is thought to represent 1.3 to 10 percent of all NCLs.",GHR,Kufs disease +What are the genetic changes related to Kufs disease ?,"Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells. The CLN6 gene provides instructions for making a protein that likely regulates the transport of certain proteins and fats within the cell. Based on this function, the CLN6 protein appears to help in the process of ridding cells of materials they no longer need. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats from proteins, which probably helps break down the proteins. The protein produced from the DNAJC5 gene is called cysteine string protein alpha (CSP). This protein is found in the brain and plays a role in the transmission of nerve impulses by ensuring that nerve cells receive signals. The enzyme produced from the CTSF gene is called cathepsin F. Cathepsin F acts as a protease, which modifies proteins by cutting them apart. Cathepsin F is found in many types of cells and is active in lysosomes. By cutting proteins apart, cathepsin F can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis). Mutations in the CLN6, PPT1, DNAJC5, or CTSF gene usually reduce the activity of the gene or impair the function of the protein or enzyme produced from the gene. In many cases, these mutations cause incomplete breakdown of certain proteins and other materials. These materials accumulate in the lysosome, forming fatty substances called lipopigments. In other cases, it is unclear what causes the buildup of lipopigments. In Kufs disease, these accumulations occur in nerve cells (neurons) in the brain, resulting in cell dysfunction and eventually cell death. The progressive death of neurons leads to the signs and symptoms of Kufs disease. Some people with either type of Kufs disease do not have an identified mutation in any of these four genes. In these individuals, the cause of the condition is unknown.",GHR,Kufs disease +Is Kufs disease inherited ?,"Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Kufs disease type B, caused by mutations in the DNAJC5 or CTSF gene, has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Kufs disease type B occur in people with no history of the disorder in their family.",GHR,Kufs disease +What are the treatments for Kufs disease ?,These resources address the diagnosis or management of Kufs disease: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Kufs disease +What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?,"Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction. Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.",GHR,Mayer-Rokitansky-Kster-Hauser syndrome +How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ?,"MRKH syndrome affects approximately 1 in 4,500 newborn girls.",GHR,Mayer-Rokitansky-Kster-Hauser syndrome +What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ?,"The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Mllerian duct in affected individuals is unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system.",GHR,Mayer-Rokitansky-Kster-Hauser syndrome +Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ?,"Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome.",GHR,Mayer-Rokitansky-Kster-Hauser syndrome +What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ?,These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Mayer-Rokitansky-Kster-Hauser syndrome +What is (are) cytogenetically normal acute myeloid leukemia ?,"Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets. People with CN-AML have a shortage of all types of mature blood cells: a shortage of white blood cells (leukopenia) leads to increased susceptibility to infections, a low number of red blood cells (anemia) causes fatigue and weakness, and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. Other symptoms of CN-AML may include fever and weight loss. The age at which CN-AML begins ranges from childhood to late adulthood. CN-AML is said to be an intermediate-risk cancer because the prognosis varies: some affected individuals respond well to normal treatment while others may require stronger treatments. The age at which the condition begins and the prognosis are affected by the specific genetic factors involved in the condition.",GHR,cytogenetically normal acute myeloid leukemia +How many people are affected by cytogenetically normal acute myeloid leukemia ?,"Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. Forty to 50 percent of people with acute myeloid leukemia have CN-AML.",GHR,cytogenetically normal acute myeloid leukemia +What are the genetic changes related to cytogenetically normal acute myeloid leukemia ?,"CN-AML is classified as ""cytogenetically normal"" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of the condition; the other half have genetic changes that alter large regions of certain chromosomes. These changes can be identified by a test known as cytogenetic analysis. CN-AML is associated with smaller genetic changes that cannot be seen by cytogenetic analysis. Mutations in a large number of genes have been found in people with CN-AML; the most commonly affected genes are NPM1, FLT3, DNMT3A, CEBPA, IDH1, and IDH2. The proteins produced from these genes have different functions in the cell. Most are involved in regulating processes such as the growth and division (proliferation), maturation (differentiation), or survival of cells. For example, the protein produced from the FLT3 gene stimulates the proliferation and survival of cells. The proteins produced from the CEBPA and DNMT3A genes regulate gene activity and help to control when cells divide and how they mature. The NPM1 gene provides instructions for a protein that is likely involved in the regulation of cell growth and division. Mutations in any of these genes can disrupt one or more of these processes in hematopoietic stem cells and lead to overproduction of abnormal, immature white blood cells, which is characteristic of CN-AML. Although the proteins produced from two other genes involved in CN-AML, IDH1 and IDH2, are not normally involved in proliferation, differentiation, or survival of cells, mutations in these genes lead to the production of proteins with a new function. These changes result in impaired differentiation of hematopoietic stem cells, which leads to CN-AML. CN-AML is a complex condition influenced by several genetic and environmental factors. Typically, mutations in more than one gene are involved. For example, people with an NPM1 gene mutation frequently also have a mutation in the FLT3 gene, both of which are likely involved in the cancer's development. In addition, environmental factors such as smoking or exposure to radiation increase an individual's risk of developing acute myeloid leukemia.",GHR,cytogenetically normal acute myeloid leukemia +Is cytogenetically normal acute myeloid leukemia inherited ?,"CN-AML is not usually inherited but arises from genetic changes in the body's cells that occur after conception. Rarely, an inherited mutation in the CEBPA gene causes acute myeloid leukemia. In these cases, the condition follows an autosomal dominant pattern of inheritance, which means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. These cases of CN-AML are referred to as familial acute myeloid leukemia with mutated CEBPA.",GHR,cytogenetically normal acute myeloid leukemia +What are the treatments for cytogenetically normal acute myeloid leukemia ?,These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cytogenetically normal acute myeloid leukemia +What is (are) prothrombin deficiency ?,"Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.",GHR,prothrombin deficiency +How many people are affected by prothrombin deficiency ?,Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.,GHR,prothrombin deficiency +What are the genetic changes related to prothrombin deficiency ?,"Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series of chemical reactions to form a blood clot. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. F2 gene mutations reduce the production of prothrombin in cells, which prevents clots from forming properly in response to injury. Problems with blood clotting can lead to excessive bleeding. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other F2 gene mutations allow for a moderate amount of prothrombin activity, typically resulting in mild bleeding episodes.",GHR,prothrombin deficiency +Is prothrombin deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,prothrombin deficiency +What are the treatments for prothrombin deficiency ?,"These resources address the diagnosis or management of prothrombin deficiency: - Genetic Testing Registry: Prothrombin deficiency, congenital - MedlinePlus Encyclopedia: Factor II deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,prothrombin deficiency +What is (are) familial exudative vitreoretinopathy ?,"Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.",GHR,familial exudative vitreoretinopathy +How many people are affected by familial exudative vitreoretinopathy ?,"The prevalence of familial exudative vitreoretinopathy is unknown. It appears to be rare, although affected people with normal vision may never come to medical attention.",GHR,familial exudative vitreoretinopathy +What are the genetic changes related to familial exudative vitreoretinopathy ?,"Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear to play critical roles in the specialization of retinal cells and the establishment of a blood supply to the retina and the inner ear. The LRP5 protein also helps regulate bone formation. Mutations in the FZD4, LRP5, or NDP gene disrupt chemical signaling during early development, which interferes with the formation of blood vessels at the edges of the retina. The resulting abnormal blood supply to this tissue leads to retinal damage and vision loss in some people with familial exudative vitreoretinopathy. The eye abnormalities associated with familial exudative vitreoretinopathy tend to be similar no matter which gene is altered. However, affected individuals with LRP5 gene mutations often have reduced bone mineral density in addition to vision loss. Mutations in the other genes responsible for familial exudative vitreoretinopathy do not appear to affect bone density. In some cases, the cause of familial exudative vitreoretinopathy is unknown. Researchers believe that mutations in several as-yet-unidentified genes are responsible for the disorder in these cases.",GHR,familial exudative vitreoretinopathy +Is familial exudative vitreoretinopathy inherited ?,"Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant familial exudative vitreoretinopathy inherit the altered gene from a parent, although the parent may not have any signs and symptoms associated with this disorder. Familial exudative vitreoretinopathy caused by LRP5 gene mutations can also have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with autosomal recessive familial exudative vitreoretinopathy each carry one copy of the mutated gene, but they do not have the disorder. When familial exudative vitreoretinopathy is caused by mutations in the NDP gene, it has an X-linked recessive pattern of inheritance. The NDP gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,familial exudative vitreoretinopathy +What are the treatments for familial exudative vitreoretinopathy ?,"These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry: Exudative vitreoretinopathy 3 - Genetic Testing Registry: Exudative vitreoretinopathy 4 - Genetic Testing Registry: Familial exudative vitreoretinopathy, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial exudative vitreoretinopathy +What is (are) autosomal dominant vitreoretinochoroidopathy ?,"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision. The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid. A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.",GHR,autosomal dominant vitreoretinochoroidopathy +How many people are affected by autosomal dominant vitreoretinochoroidopathy ?,ADVIRC is considered a rare disease. Its prevalence is unknown.,GHR,autosomal dominant vitreoretinochoroidopathy +What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ?,"ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane. Mutations in the BEST1 gene alter how the gene's instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.",GHR,autosomal dominant vitreoretinochoroidopathy +Is autosomal dominant vitreoretinochoroidopathy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.",GHR,autosomal dominant vitreoretinochoroidopathy +What are the treatments for autosomal dominant vitreoretinochoroidopathy ?,These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,autosomal dominant vitreoretinochoroidopathy +What is (are) geleophysic dysplasia ?,"Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes. The name of this condition, which comes from the Greek words for happy (""gelios"") and nature (""physis""), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum). Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect). Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.",GHR,geleophysic dysplasia +How many people are affected by geleophysic dysplasia ?,Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported.,GHR,geleophysic dysplasia +What are the genetic changes related to geleophysic dysplasia ?,"Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that the ADAMTSL2 protein may play a role in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix. This network provides strength and flexibility to tissues throughout the body. Mutations in the ADAMTSL2 protein likely change the protein's 3-dimensional structure. Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition.",GHR,geleophysic dysplasia +Is geleophysic dysplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,geleophysic dysplasia +What are the treatments for geleophysic dysplasia ?,These resources address the diagnosis or management of geleophysic dysplasia: - Gene Review: Gene Review: Geleophysic Dysplasia - Genetic Testing Registry: Geleophysic dysplasia 2 - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,geleophysic dysplasia +What is (are) 2-hydroxyglutaric aciduria ?,"2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I. L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood. Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.",GHR,2-hydroxyglutaric aciduria +How many people are affected by 2-hydroxyglutaric aciduria ?,"2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have each been reported to affect fewer than 150 individuals worldwide. Combined D,L-2-HGA appears to be even rarer, with only about a dozen reported cases.",GHR,2-hydroxyglutaric aciduria +What are the genetic changes related to 2-hydroxyglutaric aciduria ?,"The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene. The D2HGDH and L2HGDH genes provide instructions for making enzymes that are found in mitochondria, which are the energy-producing centers within cells. The enzymes break down compounds called D-2-hydroxyglutarate and L-2-hydroxyglutarate, respectively, as part of a series of reactions that produce energy for cell activities. Mutations in either of these genes lead to a shortage of functional enzyme, which allows D-2-hydroxyglutarate or L-2-hydroxyglutarate to build up in cells. At high levels, these compounds can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of these compounds, which may explain why the signs and symptoms of D-2-HGA type I and L-2-HGA primarily involve the brain. The IDH2 gene provides instructions for making an enzyme in mitochondria that normally produces a different compound. When the enzyme is altered by mutations, it takes on a new, abnormal function: production of the potentially toxic compound D-2-hydroxyglutarate. The resulting excess of this compound damages brain cells, leading to the signs and symptoms of D-2-HGA type II. It is unclear why an accumulation of D-2-hydroxyglutarate may be associated with cardiomyopathy in some people with this form of the condition. The SLC25A1 gene provides instructions for making a protein that transports certain molecules, such as citrate, in and out of mitochondria. Mutations in the SLC25A1 gene reduce the protein's function, which prevents it from carrying out this transport. Through processes that are not fully understood, a loss of this transport allows both D-2-hydroxyglutarate and L-2-hydroxyglutarate to build up, which damages brain cells. Researchers suspect that an imbalance of other molecules, particularly citrate, also contributes to the severe signs and symptoms of combined D,L-2-HGA.",GHR,2-hydroxyglutaric aciduria +Is 2-hydroxyglutaric aciduria inherited ?,"D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. D-2-HGA type II is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder typically results from a new mutation in the IDH2 gene and occurs in people with no history of the condition in their family.",GHR,2-hydroxyglutaric aciduria +What are the treatments for 2-hydroxyglutaric aciduria ?,These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 - Genetic Testing Registry: L-2-hydroxyglutaric aciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,2-hydroxyglutaric aciduria +What is (are) Dubin-Johnson syndrome ?,"Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johnson syndrome, but some people also experience weakness, mild upper abdominal pain, nausea, and/or vomiting.",GHR,Dubin-Johnson syndrome +How many people are affected by Dubin-Johnson syndrome ?,"Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, it is more common among Iranian and Moroccan Jews living in Israel. Studies suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. Additionally, several people in the Japanese population have been diagnosed with Dubin-Johnson syndrome. This condition appears to be less common in other countries.",GHR,Dubin-Johnson syndrome +What are the genetic changes related to Dubin-Johnson syndrome ?,"Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. For example, MRP2 transports a substance called bilirubin out of liver cells and into bile (a digestive fluid produced by the liver). Bilirubin is produced during the breakdown of old red blood cells and has an orange-yellow tint. ABCC2 gene mutations lead to a version of MRP2 that cannot effectively pump substances out of cells. These mutations particularly affect the transport of bilirubin into bile. As a result, bilirubin accumulates in the body, causing a condition called hyperbilirubinemia. The buildup of bilirubin in the body causes the yellowing of the skin and whites of the eyes seen in people with Dubin-Johnson syndrome.",GHR,Dubin-Johnson syndrome +Is Dubin-Johnson syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Dubin-Johnson syndrome +What are the treatments for Dubin-Johnson syndrome ?,These resources address the diagnosis or management of Dubin-Johnson syndrome: - Genetic Testing Registry: Dubin-Johnson syndrome - MedlinePlus Encyclopedia: Bilirubin - MedlinePlus Encyclopedia: Dubin-Johnson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Dubin-Johnson syndrome +What is (are) allergic asthma ?,"Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. Allergens are harmless substances that the body's immune system mistakenly reacts to as though they are harmful. Common allergens include pollen, dust, animal dander, and mold. The immune response leads to the symptoms of asthma. Allergic asthma is the most common form of the disorder. A hallmark of asthma is bronchial hyperresponsiveness, which means the airways are especially sensitive to irritants and respond excessively. Because of this hyperresponsiveness, attacks can be triggered by irritants other than allergens, such as physical activity, respiratory infections, or exposure to tobacco smoke, in people with allergic asthma. An asthma attack is characterized by tightening of the muscles around the airways (bronchoconstriction), which narrows the airway and makes breathing difficult. Additionally, the immune reaction can lead to swelling of the airways and overproduction of mucus. During an attack, an affected individual can experience chest tightness, wheezing, shortness of breath, and coughing. Over time, the muscles around the airways can become enlarged (hypertrophied), further narrowing the airways. Some people with allergic asthma have another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a series of allergic disorders, referred to as the atopic march. Development of these conditions typically follows a pattern, beginning with eczema (atopic dermatitis), followed by food allergies, then hay fever, and finally asthma. However, not all individuals with asthma have progressed through the atopic march, and not all individuals with one allergic disease will develop others.",GHR,allergic asthma +How many people are affected by allergic asthma ?,"Approximately 235 million people worldwide have asthma. In the United States, the condition affects an estimated 8 percent of the population. In nearly 90 percent of children and 50 percent of adults with asthma, the condition is classified as allergic asthma.",GHR,allergic asthma +What are the genetic changes related to allergic asthma ?,"The cause of allergic asthma is complex. It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing asthma. Studies suggest that more than 100 genes may be associated with allergic asthma, but each seems to be a factor in only one or a few populations. Many of the associated genes are involved in the body's immune response. Others play a role in lung and airway function. There is evidence that an unbalanced immune response underlies allergic asthma. While there is normally a balance between type 1 (or Th1) and type 2 (or Th2) immune reactions in the body, many individuals with allergic asthma predominantly have type 2 reactions. Type 2 reactions lead to the production of immune proteins called IgE antibodies and the generation of other factors that predispose to bronchial hyperresponsiveness. Normally, the body produces IgE antibodies in response to foreign invaders, particularly parasitic worms. For unknown reasons, in susceptible individuals, the body reacts to an allergen as if it is harmful, producing IgE antibodies specific to it. Upon later encounters with the allergen, IgE antibodies recognize it, which stimulates an immune response, causing bronchoconstriction, airway swelling, and mucus production. Not everyone with a variation in one of the allergic asthma-associated genes develops the condition; exposure to certain environmental factors also contributes to its development. Studies suggest that these exposures trigger epigenetic changes to the DNA. Epigenetic changes modify DNA without changing the DNA sequence. They can affect gene activity and regulate the production of proteins, which may influence the development of allergies in susceptible individuals.",GHR,allergic asthma +Is allergic asthma inherited ?,"Allergic asthma can be passed through generations in families, but the inheritance pattern is unknown. People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. Because allergic asthma is a complex condition influenced by genetic and environmental factors, not all people with a mutation in an asthma-associated gene will develop the disorder.",GHR,allergic asthma +What are the treatments for allergic asthma ?,"These resources address the diagnosis or management of allergic asthma: - American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management - Genetic Testing Registry: Asthma, atopic - Genetic Testing Registry: Asthma, susceptibility to These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,allergic asthma +What is (are) supravalvular aortic stenosis ?,"Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.",GHR,supravalvular aortic stenosis +How many people are affected by supravalvular aortic stenosis ?,"SVAS occurs in 1 in 20,000 newborns worldwide.",GHR,supravalvular aortic stenosis +What are the genetic changes related to supravalvular aortic stenosis ?,"Mutations in the ELN gene cause SVAS. The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix), where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels. Elastic fibers make up approximately 50 percent of the aorta, the rest being primarily muscle cells called vascular smooth muscle cells that line the aorta. Together, elastic fibers and vascular smooth muscle cells provide flexibility and resilience to the aorta. Most of the ELN gene mutations that cause SVAS lead to a decrease in the production of tropoelastin. A shortage of tropoelastin reduces the amount of mature elastin protein that is processed and available for forming elastic fibers. As a result, elastic fibers that make up the aorta are thinner than normal. To compensate, the smooth muscle cells that line the aorta increase in number, making the aorta thicker and narrower than usual. A thickened aorta is less flexible and resilient to the stress of constant blood flow and pumping of the heart. Over time, the wall of the aorta can become damaged. Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS.",GHR,supravalvular aortic stenosis +Is supravalvular aortic stenosis inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of SVAS. (This situation is known as reduced penetrance.) In some cases, a person inherits the mutation from one parent who has the mutation. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,supravalvular aortic stenosis +What are the treatments for supravalvular aortic stenosis ?,These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,supravalvular aortic stenosis +What is (are) atelosteogenesis type 2 ?,"Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.",GHR,atelosteogenesis type 2 +How many people are affected by atelosteogenesis type 2 ?,Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.,GHR,atelosteogenesis type 2 +What are the genetic changes related to atelosteogenesis type 2 ?,"Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2.",GHR,atelosteogenesis type 2 +Is atelosteogenesis type 2 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,atelosteogenesis type 2 +What are the treatments for atelosteogenesis type 2 ?,These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,atelosteogenesis type 2 +What is (are) congenital afibrinogenemia ?,"Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.",GHR,congenital afibrinogenemia +How many people are affected by congenital afibrinogenemia ?,Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.,GHR,congenital afibrinogenemia +What are the genetic changes related to congenital afibrinogenemia ?,"Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot. Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia.",GHR,congenital afibrinogenemia +Is congenital afibrinogenemia inherited ?,"Congenital afibrinogenemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. The parents have about half the normal level of fibrinogen in their blood but typically do not show signs and symptoms of the condition.",GHR,congenital afibrinogenemia +What are the treatments for congenital afibrinogenemia ?,These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital afibrinogenemia +What is (are) epidermolysis bullosa with pyloric atresia ?,"Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. People with EB-PA are also born with pyloric atresia, which is an obstruction of the lower part of the stomach (the pylorus). This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. Pyloric atresia is life-threatening and must be repaired with surgery soon after birth. Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Some affected individuals are also born with malformations of the urinary tract, including the kidneys and bladder. Because the signs and symptoms of EB-PA are so severe, many infants with this condition do not survive beyond the first year of life. In those who survive, the condition may improve with time; some affected individuals have little or no blistering later in life. However, many affected individuals who live past infancy experience severe medical problems, including blistering and the formation of red, bumpy patches called granulation tissue. Granulation tissue most often forms on the skin around the mouth, nose, fingers, and toes. It can also build up in the airway, leading to difficulty breathing.",GHR,epidermolysis bullosa with pyloric atresia +How many people are affected by epidermolysis bullosa with pyloric atresia ?,"EB-PA appears to be a rare condition, although its prevalence is unknown. At least 50 affected individuals have been reported worldwide.",GHR,epidermolysis bullosa with pyloric atresia +What are the genetic changes related to epidermolysis bullosa with pyloric atresia ?,"EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract. ITGB4 gene mutations are the most common cause of EB-PA; these mutations are responsible for about 80 percent of all cases. ITGA6 gene mutations cause about 5 percent of cases. The proteins produced from the ITGA6 and ITGB4 genes join to form a protein known as 64 integrin. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in either the ITGA6 gene or the ITGB4 gene lead to the production of a defective or nonfunctional version of 64 integrin, or prevent cells from making any of this protein. A shortage of functional 64 integrin causes cells in the epidermis to be fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters. About 15 percent of all cases of EB-PA result from mutations in the PLEC gene. This gene provides instructions for making a protein called plectin. Like 64 integrin, plectin helps attach the epidermis to underlying layers of skin. Some PLEC gene mutations prevent the cell from making any functional plectin, while other mutations result in an abnormal form of the protein. When plectin is altered or missing, the skin is less resistant to friction and minor trauma and blisters easily. Researchers are working to determine how mutations in the ITGA6, ITGB4, and PLEC genes lead to pyloric atresia in people with EB-PA. Studies suggest that these genes are important for the normal development of the digestive tract.",GHR,epidermolysis bullosa with pyloric atresia +Is epidermolysis bullosa with pyloric atresia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,epidermolysis bullosa with pyloric atresia +What are the treatments for epidermolysis bullosa with pyloric atresia ?,"These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa with Pyloric Atresia - Genetic Testing Registry: Epidermolysis bullosa simplex with pyloric atresia - Genetic Testing Registry: Epidermolysis bullosa with pyloric atresia - MedlinePlus Encyclopedia: Epidermolysis Bullosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,epidermolysis bullosa with pyloric atresia +What is (are) fucosidosis ?,"Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as ""coarse""; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly). In severe cases, symptoms typically appear in infancy, and affected individuals usually live into late childhood. In milder cases, symptoms begin at age 1 or 2, and affected individuals tend to survive into mid-adulthood. In the past, researchers described two types of this condition based on symptoms and age of onset, but current opinion is that the two types are actually a single disorder with signs and symptoms that range in severity.",GHR,fucosidosis +How many people are affected by fucosidosis ?,"Fucosidosis is a rare condition; approximately 100 cases have been reported worldwide. This condition appears to be most prevalent in Italy, Cuba, and the southwestern United States.",GHR,fucosidosis +What are the genetic changes related to fucosidosis ?,"Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process. FUCA1 gene mutations severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. A lack of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds gradually accumulate within various cells and tissues throughout the body and cause cells to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis.",GHR,fucosidosis +Is fucosidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,fucosidosis +What are the treatments for fucosidosis ?,These resources address the diagnosis or management of fucosidosis: - Genetic Testing Registry: Fucosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fucosidosis +What is (are) L1 syndrome ?,"L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lower limbs, intellectual disability, increased fluid in the center of the brain (hydrocephalus), and thumbs bent toward the palm (adducted thumbs). People with L1 syndrome can also have difficulty speaking (aphasia), seizures, and underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum). The symptoms of L1 syndrome vary widely among affected individuals, even among members of the same family. Because this disorder involves spasticity of the lower limbs, L1 syndrome is sometimes referred to as spastic paraplegia type 1 (SPG1).",GHR,L1 syndrome +How many people are affected by L1 syndrome ?,"L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition.",GHR,L1 syndrome +What are the genetic changes related to L1 syndrome ?,"L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheath (myelin) that surrounds certain neurons, and the formation of junctions between nerve cells (synapses), where cell-to-cell communication occurs. Mutations in the L1 protein can interfere with these developmental processes. Research suggests that a disruption in the development and function of neurons causes the signs and symptoms of L1 syndrome.",GHR,L1 syndrome +Is L1 syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,L1 syndrome +What are the treatments for L1 syndrome ?,"These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registry: Spastic paraplegia 1 - Genetic Testing Registry: X-linked hydrocephalus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,L1 syndrome +What is (are) acute promyelocytic leukemia ?,"Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition. People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding. The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss. Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.",GHR,acute promyelocytic leukemia +How many people are affected by acute promyelocytic leukemia ?,"Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in 250,000 people in the United States.",GHR,acute promyelocytic leukemia +What are the genetic changes related to acute promyelocytic leukemia ?,"The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. The protein produced from this fused gene is known as PML-RAR. This mutation is acquired during a person's lifetime and is present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited. The PML-RAR protein functions differently than the protein products of the normal PML and RARA genes. The protein produced from the RARA gene, RAR, is involved in the regulation of gene transcription, which is the first step in protein production. Specifically, this protein helps control the transcription of certain genes important in the maturation (differentiation) of white blood cells beyond the promyelocyte stage. The protein produced from the PML gene acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML-RAR protein interferes with the normal function of both the PML and the RAR proteins. As a result, blood cells are stuck at the promyelocyte stage, and they proliferate abnormally. Excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia. The PML-RARA gene fusion accounts for up to 98 percent of cases of acute promyelocytic leukemia. Translocations involving the RARA gene and other genes have been identified in a few cases of acute promyelocytic leukemia.",GHR,acute promyelocytic leukemia +Is acute promyelocytic leukemia inherited ?,Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception.,GHR,acute promyelocytic leukemia +What are the treatments for acute promyelocytic leukemia ?,These resources address the diagnosis or management of acute promyelocytic leukemia: - American Cancer Society: Diagnosis of Acute Myeloid Leukemia - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia - Genetic Testing Registry: Acute promyelocytic leukemia - MedlinePlus Encyclopedia: Acute Myeloid Leukemia - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment - National Cancer Institute: Leukemia - National Heart Lung and Blood Institute: Bone Marrow Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,acute promyelocytic leukemia +What is (are) renal hypouricemia ?,"Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in the blood. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much uric acid in the body is toxic, so excess uric acid is removed from the body in urine. People with renal hypouricemia have little to no uric acid in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours. Because an excessive amount of uric acid passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from uric acid crystals. These uric acid stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.",GHR,renal hypouricemia +How many people are affected by renal hypouricemia ?,"The prevalence of renal hypouricemia is unknown; at least 150 affected individuals have been described in the scientific literature. This condition is thought to be most prevalent in Asian countries such as Japan and South Korea, although affected individuals have been found in Europe. Renal hypouricemia is likely underdiagnosed because it does not cause any symptoms in many affected individuals.",GHR,renal hypouricemia +What are the genetic changes related to renal hypouricemia ?,"Mutations in the SLC22A12 or SLC2A9 gene cause renal hypouricemia. These genes provide instructions for making proteins called urate transporter 1 (URAT1) and glucose transporter 9 (GLUT9), respectively. These proteins are found in the kidneys, specifically in structures called proximal tubules. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete unneeded substances into the urine. Within the proximal tubules, both the URAT1 and GLUT9 proteins reabsorb uric acid into the bloodstream or release it into the urine, depending on the body's needs. Most uric acid that is filtered through the kidneys is reabsorbed into the bloodstream; about 10 percent is released into urine. Mutations that cause renal hypouricemia lead to the production of URAT1 or GLUT9 protein with a reduced ability to reabsorb uric acid into the bloodstream. Instead, large amounts of uric acid are released in the urine. The specific cause of the signs and symptoms of renal hypouricemia is unclear. Researchers suspect that when additional uric acid is produced during exercise and passed through the kidneys, it could lead to tissue damage. Alternatively, without the antioxidant properties of uric acid, free radicals could cause tissue damage in the kidneys. Another possibility is that other substances are prevented from being reabsorbed along with uric acid; accumulation of these substances in the kidneys could cause tissue damage. It is likely that individuals with renal hypouricemia who have mild or no symptoms have enough protein function to reabsorb a sufficient amount of uric acid into the bloodstream to prevent severe kidney problems.",GHR,renal hypouricemia +Is renal hypouricemia inherited ?,"This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. Sometimes, individuals with one SLC2A9 gene mutation in each cell have reduced levels of uric acid. The levels usually are not as low as they are in people who have mutations in both copies of the gene, and they often do not cause any signs or symptoms. Rarely, people who carry one copy of the mutated gene will develop uric acid kidney stones.",GHR,renal hypouricemia +What are the treatments for renal hypouricemia ?,These resources address the diagnosis or management of renal hypouricemia: - Genetic Testing Registry: Familial renal hypouricemia - Genetic Testing Registry: Renal hypouricemia 2 - KidsHealth from Nemours: Blood Test: Uric Acid - MedlinePlus Encyclopedia: Uric Acid--Blood These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,renal hypouricemia +What is (are) GM1 gangliosidosis ?,"GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually become apparent by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as ""coarse,"" enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not survive past early childhood. Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood. The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.",GHR,GM1 gangliosidosis +How many people are affected by GM1 gangliosidosis ?,"GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent.",GHR,GM1 gangliosidosis +What are the genetic changes related to GM1 gangliosidosis ?,"Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, -galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of nerve cells in the brain. Mutations in the GLB1 gene reduce or eliminate the activity of -galactosidase. Without enough functional -galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of -galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body. Conditions such as GM1 gangliosidosis that cause molecules to build up inside the lysosomes are called lysosomal storage disorders.",GHR,GM1 gangliosidosis +Is GM1 gangliosidosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,GM1 gangliosidosis +What are the treatments for GM1 gangliosidosis ?,These resources address the diagnosis or management of GM1 gangliosidosis: - Genetic Testing Registry: Gangliosidosis GM1 type 3 - Genetic Testing Registry: Gangliosidosis generalized GM1 type 1 - Genetic Testing Registry: Infantile GM1 gangliosidosis - Genetic Testing Registry: Juvenile GM>1< gangliosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,GM1 gangliosidosis +What is (are) giant axonal neuropathy ?,"Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people. As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.",GHR,giant axonal neuropathy +How many people are affected by giant axonal neuropathy ?,Giant axonal neuropathy is a very rare disorder; the incidence is unknown.,GHR,giant axonal neuropathy +What are the genetic changes related to giant axonal neuropathy ?,"Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein. Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction.",GHR,giant axonal neuropathy +Is giant axonal neuropathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,giant axonal neuropathy +What are the treatments for giant axonal neuropathy ?,These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,giant axonal neuropathy +What is (are) Waldenstrm macroglobulinemia ?,"Waldenstrm macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name (""macroglobulinemia""). Waldenstrm macroglobulinemia usually begins in a person's sixties and is a slow-growing (indolent) cancer. Some affected individuals have elevated levels of IgM and lymphoplasmacytic cells but no symptoms of the condition; in these cases, the disease is usually found incidentally by a blood test taken for another reason. These individuals are diagnosed with smoldering (or asymptomatic) Waldenstrm macroglobulinemia. It can be several years before this form of the condition progresses to the symptomatic form. Individuals with symptomatic Waldenstrm macroglobulinemia can experience general symptoms such as fever, night sweats, and weight loss. Several other signs and symptoms of the condition are related to the excess IgM, which can thicken blood and impair circulation, causing a condition known as hyperviscosity syndrome. Features related to hyperviscosity syndrome include bleeding in the nose or mouth, blurring or loss of vision, headache, dizziness, and difficulty coordinating movements (ataxia). In some affected individuals, the IgM proteins clump together in the hands and feet, where the body temperature is cooler than at the center of the body. These proteins are then referred to as cryoglobulins, and their clumping causes a condition known as cryoglobulinemia. Cryoglobulinemia can lead to pain in the hands and feet or episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperatures. The IgM protein can also build up in organs such as the heart and kidneys, causing a condition called amyloidosis, which can lead to heart and kidney problems. Some people with Waldenstrm macroglobulinemia develop a loss of sensation and weakness in the limbs (peripheral neuropathy). Doctors are unsure why this feature occurs, although they speculate that the IgM protein attaches to the protective covering of nerve cells (myelin) and breaks it down. The damaged nerves cannot carry signals normally, leading to neuropathy. Other features of Waldenstrm macroglobulinemia are due to the accumulation of lymphoplasmacytic cells in different tissues. For example, accumulation of these cells can lead to an enlarged liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy). In the bone marrow, the lymphoplasmacytic cells interfere with normal blood cell development, causing a shortage of normal blood cells (pancytopenia). Excessive tiredness (fatigue) due to a reduction in red blood cells (anemia) is common in affected individuals. People with Waldenstrm macroglobulinemia have an increased risk of developing other cancers of the blood or other tissues.",GHR,Waldenstrm macroglobulinemia +How many people are affected by Waldenstrm macroglobulinemia ?,"Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men than women.",GHR,Waldenstrm macroglobulinemia +What are the genetic changes related to Waldenstrm macroglobulinemia ?,"Waldenstrm macroglobulinemia is thought to result from a combination of genetic changes. The most common known genetic change associated with this condition is a mutation in the MYD88 gene, which is found in more than 90 percent of affected individuals. Another gene commonly associated with Waldenstrm macroglobulinemia, CXCR4, is mutated in approximately 30 percent of affected individuals (most of whom also have the MYD88 gene mutation). Other genetic changes believed to be involved in Waldenstrm macroglobulinemia have not yet been identified. Studies have found that certain regions of DNA are deleted or added in some people with the condition; however, researchers are unsure which genes in these regions are important for development of the condition. The mutations that cause Waldenstrm macroglobulinemia are acquired during a person's lifetime and are present only in the abnormal blood cells. The proteins produced from the MYD88 and CXCR4 genes are both involved in signaling within cells. The MyD88 protein relays signals that help prevent the self-destruction (apoptosis) of cells, thus aiding in cell survival. The CXCR4 protein stimulates signaling pathways inside the cell that help regulate cell growth and division (proliferation) and cell survival. Mutations in these genes lead to production of proteins that are constantly functioning (overactive). Excessive signaling through these overactive proteins allows survival and proliferation of abnormal cells that should undergo apoptosis, which likely contributes to the accumulation of lymphoplasmacytic cells in Waldenstrm macroglobulinemia.",GHR,Waldenstrm macroglobulinemia +Is Waldenstrm macroglobulinemia inherited ?,"Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited. Some families seem to have a predisposition to the condition. Approximately 20 percent of people with Waldenstrm macroglobulinemia have a family member with the condition or another disorder involving abnormal B cells.",GHR,Waldenstrm macroglobulinemia +What are the treatments for Waldenstrm macroglobulinemia ?,These resources address the diagnosis or management of Waldenstrm macroglobulinemia: - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed? - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated? - Genetic Testing Registry: Waldenstrom macroglobulinemia - MD Anderson Cancer Center - MedlinePlus Encyclopedia: Macroglobulinemia of Waldenstrom These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Waldenstrm macroglobulinemia +What is (are) Birt-Hogg-Dub syndrome ?,"Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dub syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dub syndrome.",GHR,Birt-Hogg-Dub syndrome +How many people are affected by Birt-Hogg-Dub syndrome ?,Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.,GHR,Birt-Hogg-Dub syndrome +What are the genetic changes related to Birt-Hogg-Dub syndrome ?,"Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to uncontrolled cell growth and the formation of noncancerous and cancerous tumors. Researchers have not determined how FLCN mutations increase the risk of lung problems, such as pneumothorax.",GHR,Birt-Hogg-Dub syndrome +Is Birt-Hogg-Dub syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. Having a single mutated copy of the FLCN gene in each cell is enough to cause the skin tumors and lung problems associated with Birt-Hogg-Dub syndrome. However, both copies of the FLCN gene are often mutated in the kidney tumors that occur with this condition. One of the mutations is inherited from a parent, while the other occurs by chance in a kidney cell during a person's lifetime. These genetic changes disable both copies of the FLCN gene, which allows kidney cells to divide uncontrollably and form tumors.",GHR,Birt-Hogg-Dub syndrome +What are the treatments for Birt-Hogg-Dub syndrome ?,These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus Encyclopedia: Collapsed Lung These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Birt-Hogg-Dub syndrome +What is (are) pseudocholinesterase deficiency ?,"Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. The drugs are often employed for brief surgical procedures or in emergencies when a breathing tube must be inserted quickly. Normally, these drugs are broken down (metabolized) by the body within a few minutes of being administered, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after the drugs are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the drugs are cleared from the body. People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. The condition causes no other signs or symptoms and is usually not discovered until an abnormal drug reaction occurs.",GHR,pseudocholinesterase deficiency +How many people are affected by pseudocholinesterase deficiency ?,"Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives.",GHR,pseudocholinesterase deficiency +What are the genetic changes related to pseudocholinesterase deficiency ?,"Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body's ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects. Pseudocholinesterase deficiency can also have nongenetic causes. In these cases, the condition is called acquired pseudocholinesterase deficiency; it is not inherited and cannot be passed to the next generation. Activity of the pseudocholinesterase enzyme can be impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.",GHR,pseudocholinesterase deficiency +Is pseudocholinesterase deficiency inherited ?,"When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass on the gene mutation to their children, but they do not usually experience signs and symptoms of the disorder. In some cases, carriers of BCHE gene mutations take longer than usual to clear choline ester drugs from the body, but not as long as those with two copies of the altered gene in each cell.",GHR,pseudocholinesterase deficiency +What are the treatments for pseudocholinesterase deficiency ?,These resources address the diagnosis or management of pseudocholinesterase deficiency: - MedlinePlus Encyclopedia: Cholinesterase (blood test) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,pseudocholinesterase deficiency +What is (are) warfarin sensitivity ?,"Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis). Many people with warfarin sensitivity take longer than normal to break down (metabolize) warfarin, so the medication is in their body longer than usual and they require lower doses. These individuals are classified as ""slow metabolizers"" of warfarin. Other people with warfarin sensitivity do not need as much drug to prevent clots because their clot forming process is already slower than average and can be inhibited by low warfarin doses. If people with warfarin sensitivity take the average dose (or more) of warfarin, they are at risk of an overdose, which can cause abnormal bleeding in the brain, gastrointestinal tract, or other tissues, and may lead to serious health problems or death. Warfarin sensitivity does not appear to cause any health problems other than those associated with warfarin drug treatment.",GHR,warfarin sensitivity +How many people are affected by warfarin sensitivity ?,"The prevalence of warfarin sensitivity is unknown. However, it appears to be more common in people who are older, those with lower body weights, and individuals of Asian ancestry. Of the approximately 2 million people in the U.S. who are prescribed warfarin annually, 35,000 to 45,000 individuals go to hospital emergency rooms with warfarin-related adverse drug events. While it is unclear how many of these events are due to warfarin sensitivity, the most common sign is excessive internal bleeding, which is often seen when individuals with warfarin sensitivity are given too much of the medication.",GHR,warfarin sensitivity +What are the genetic changes related to warfarin sensitivity ?,"Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. The CYP2C9 gene provides instructions for making an enzyme that breaks down compounds including steroids and fatty acids. The CYP2C9 enzyme also breaks down certain drugs, including warfarin. Several CYP2C9 gene polymorphisms can decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. As a result, the drug remains active in the body for a longer period of time, leading to warfarin sensitivity. The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 and slows the activation of clotting proteins and clot formation. Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. Individuals develop warfarin sensitivity because less warfarin is needed to inhibit the VKORC1 enzyme, as there is less functional enzyme that needs to be suppressed. While changes in specific genes, particularly CYP2C9 and VKORC1, affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.",GHR,warfarin sensitivity +Is warfarin sensitivity inherited ?,"The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin sensitivity have a lower tolerance for the drug's effect or take even longer to clear the drug from their body.",GHR,warfarin sensitivity +What are the treatments for warfarin sensitivity ?,These resources address the diagnosis or management of warfarin sensitivity: - Food and Drug Administration Medication Guide - MedlinePlus Drugs & Supplements: Warfarin - My46 Trait Profile - PharmGKB - WarfarinDosing.org These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,warfarin sensitivity +What is (are) ankylosing spondylitis ?,"Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis. The earliest symptoms of ankylosing spondylitis result from inflammation of the joints between the pelvic bones (the ilia) and the base of the spine (the sacrum). These joints are called sacroiliac joints, and inflammation of these joints is known as sacroiliitis. The inflammation gradually spreads to the joints between the vertebrae, causing a condition called spondylitis. Ankylosing spondylitis can involve other joints as well, including the shoulders, hips, and, less often, the knees. As the disease progresses, it can affect the joints between the spine and ribs, restricting movement of the chest and making it difficult to breathe deeply. People with advanced disease are also more prone to fractures of the vertebrae. Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis. Acute iritis causes eye pain and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis can also cause serious complications involving the heart, lungs, and nervous system.",GHR,ankylosing spondylitis +How many people are affected by ankylosing spondylitis ?,"Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 to 13 per 1,000 people.",GHR,ankylosing spondylitis +What are the genetic changes related to ankylosing spondylitis ?,"Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder. The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B27 increases the risk of developing ankylosing spondylitis. Although many people with ankylosing spondylitis have the HLA-B27 variation, most people with this version of the HLA-B gene never develop the disorder. It is not known how HLA-B27 increases the risk of developing ankylosing spondylitis. Variations in several additional genes, including ERAP1, IL1A, and IL23R, have also been associated with ankylosing spondylitis. Although these genes play critical roles in the immune system, it is unclear how variations in these genes affect a person's risk of developing ankylosing spondylitis. Changes in genes that have not yet been identified are also believed to affect the chances of developing ankylosing spondylitis and influence the progression of the disorder. Some of these genes likely play a role in the immune system, while others may have different functions. Researchers are working to identify these genes and clarify their role in ankylosing spondylitis.",GHR,ankylosing spondylitis +Is ankylosing spondylitis inherited ?,"Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not mean that a person will develop the condition, even in families in which more than one family member has the disorder. For example, about 80 percent of children who inherit HLA-B27 from a parent with ankylosing spondylitis do not develop the disorder.",GHR,ankylosing spondylitis +What are the treatments for ankylosing spondylitis ?,These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ankylosing spondylitis +What is (are) thiamine-responsive megaloblastic anemia syndrome ?,"Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, diarrhea, and tingling or numbness in the hands and feet. Individuals with thiamine-responsive megaloblastic anemia syndrome begin to show symptoms of megaloblastic anemia between infancy and adolescence. This syndrome is called ""thiamine-responsive"" because the anemia can be treated with high doses of vitamin B1 (thiamine). People with thiamine-responsive megaloblastic anemia syndrome develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss) during early childhood. It remains unclear whether thiamine treatment can improve hearing or prevent hearing loss. Diabetes becomes apparent in affected individuals sometime between infancy and adolescence. Although these individuals develop diabetes during childhood, they do not have the form of the disease that develops most often in children, called type 1 (autoimmune) diabetes. People with thiamine-responsive megaloblastic anemia syndrome usually require insulin to treat their diabetes. In some cases, treatment with thiamine can reduce the amount of insulin a person needs. Some individuals with thiamine-responsive megaloblastic anemia syndrome develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Heart and blood vessel (cardiovascular) problems such as heart rhythm abnormalities and heart defects have also been reported in some people with this syndrome.",GHR,thiamine-responsive megaloblastic anemia syndrome +How many people are affected by thiamine-responsive megaloblastic anemia syndrome ?,Thiamine-responsive megaloblastic anemia syndrome has been reported in approximately 30 families worldwide. Its prevalence is unknown.,GHR,thiamine-responsive megaloblastic anemia syndrome +What are the genetic changes related to thiamine-responsive megaloblastic anemia syndrome ?,"Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions. Most mutations in the SLC19A2 gene lead to the production of an abnormally short, nonfunctional thiamine transporter 1. Other mutations change single protein building blocks (amino acids) in this protein. All of these mutations prevent thiamine transporter 1 from bringing thiamine into the cell. It remains unclear how the absence of this protein leads to the seemingly unrelated symptoms of megaloblastic anemia, diabetes, and hearing loss. Research suggests that an alternative method for transporting thiamine is present in all the cells of the body, except where blood cells and insulin are formed (in the bone marrow and pancreas, respectively) and cells in the inner ear.",GHR,thiamine-responsive megaloblastic anemia syndrome +Is thiamine-responsive megaloblastic anemia syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,thiamine-responsive megaloblastic anemia syndrome +What are the treatments for thiamine-responsive megaloblastic anemia syndrome ?,"These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlus Encyclopedia: Optic nerve atrophy - MedlinePlus Encyclopedia: Thiamine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,thiamine-responsive megaloblastic anemia syndrome +What is (are) X-linked myotubular myopathy ?,"X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. The muscle problems in X-linked myotubular myopathy impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with this condition often do not have the muscle strength to breathe on their own and must be supported with a machine to help them breathe (mechanical ventilation). Some affected individuals need breathing assistance only periodically, typically during sleep, while others require it continuously. People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia). In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have liver disease, recurrent ear and respiratory infections, or seizures. Because of their severe breathing problems, individuals with X-linked myotubular myopathy usually survive only into early childhood; however, some people with this condition have lived into adulthood. X-linked myotubular myopathy is a member of a group of disorders called centronuclear myopathies. In centronuclear myopathies, the nucleus is found at the center of many rod-shaped muscle cells instead of at either end, where it is normally located.",GHR,X-linked myotubular myopathy +How many people are affected by X-linked myotubular myopathy ?,"The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide.",GHR,X-linked myotubular myopathy +What are the genetic changes related to X-linked myotubular myopathy ?,"Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. MTM1 gene mutations probably disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.",GHR,X-linked myotubular myopathy +Is X-linked myotubular myopathy inherited ?,"X-linked myotubular myopathy is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked myotubular myopathy, the affected male inherits one altered copy from his mother in 80 to 90 percent of cases. In the remaining 10 to 20 percent of cases, the disorder results from a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Females with one altered copy of the MTM1 gene generally do not experience signs and symptoms of the disorder. In rare cases, however, females who have one altered copy of the MTM1 gene experience some mild muscle weakness.",GHR,X-linked myotubular myopathy +What are the treatments for X-linked myotubular myopathy ?,These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked myotubular myopathy +What is (are) Greig cephalopolysyndactyly syndrome ?,"Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.",GHR,Greig cephalopolysyndactyly syndrome +How many people are affected by Greig cephalopolysyndactyly syndrome ?,This condition is very rare; its prevalence is unknown.,GHR,Greig cephalopolysyndactyly syndrome +What are the genetic changes related to Greig cephalopolysyndactyly syndrome ?,"Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.",GHR,Greig cephalopolysyndactyly syndrome +Is Greig cephalopolysyndactyly syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family.",GHR,Greig cephalopolysyndactyly syndrome +What are the treatments for Greig cephalopolysyndactyly syndrome ?,These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Greig cephalopolysyndactyly syndrome +What is (are) galactosemia ?,"Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.",GHR,galactosemia +How many people are affected by galactosemia ?,"Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.",GHR,galactosemia +What are the genetic changes related to galactosemia ?,"Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. Mutations in the GALT gene cause classic galactosemia (type I). Most of these genetic changes almost completely eliminate the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder. Another GALT gene mutation, known as the Duarte variant, reduces but does not eliminate the activity of the enzyme. People with the Duarte variant tend to have much milder features of galactosemia. Galactosemia type II results from mutations in the GALK1 gene, while mutations in the GALE gene underlie galactosemia type III. Like the enzyme produced from the GALT gene, the enzymes made from the GALK1 and GALE genes play important roles in processing galactose. A shortage of any of these critical enzymes allows galactose and related compounds to build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to the characteristic features of galactosemia.",GHR,galactosemia +Is galactosemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,galactosemia +What are the treatments for galactosemia ?,These resources address the diagnosis or management of galactosemia: - Baby's First Test: Classic Galactosemia - Baby's First Test: Galactoepimerase Deficiency - Baby's First Test: Galactokinase Deficiency - Gene Review: Gene Review: Classic Galactosemia and Clinical Variant Galactosemia - Gene Review: Gene Review: Duarte Variant Galactosemia - Gene Review: Gene Review: Epimerase Deficiency Galactosemia - Genetic Testing Registry: Galactosemia - MedlinePlus Encyclopedia: Galactose-1-phosphate uridyltransferase - MedlinePlus Encyclopedia: Galactosemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,galactosemia +What is (are) microvillus inclusion disease ?,"Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis). In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition). Even with nutritional supplementation, most children with microvillus inclusion disease do not survive beyond childhood. A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.",GHR,microvillus inclusion disease +How many people are affected by microvillus inclusion disease ?,"The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide.",GHR,microvillus inclusion disease +What are the genetic changes related to microvillus inclusion disease ?,"Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling. MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease. Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown.",GHR,microvillus inclusion disease +Is microvillus inclusion disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,microvillus inclusion disease +What are the treatments for microvillus inclusion disease ?,These resources address the diagnosis or management of microvillus inclusion disease: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Congenital microvillous atrophy - Great Ormond Street Hospital for Children (UK): Intestinal Assessment - International Microvillus Inclusion Disease Patient Registry These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,microvillus inclusion disease +What is (are) Hermansky-Pudlak syndrome ?,"Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood. People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding. Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems. Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.",GHR,Hermansky-Pudlak syndrome +How many people are affected by Hermansky-Pudlak syndrome ?,"Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puerto Rico. Groups of affected individuals have been identified in many other regions, including India, Japan, the United Kingdom, and Western Europe.",GHR,Hermansky-Pudlak syndrome +What are the genetic changes related to Hermansky-Pudlak syndrome ?,"At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles (LROs). LROs are very similar to compartments within the cell called lysosomes, which digest and recycle materials. However, LROs perform specialized functions and are found only in certain cell types. LROs have been identified in pigment-producing cells (melanocytes), blood-clotting cells (platelets), and lung cells. Mutations in the genes associated with Hermansky-Pudlak syndrome prevent the formation of LROs or impair the functioning of these cell structures. In general, mutations in genes that involve the same protein complex cause similar signs and symptoms. People with this syndrome have oculocutaneous albinism because the LROs within melanocytes cannot produce and distribute the substance that gives skin, hair, and eyes their color (melanin). Bleeding problems are caused by the absence of LROs within platelets, which affects the ability of platelets to stick together and form a blood clot. Mutations in some of the genes that cause Hermansky-Pudlak syndrome affect the normal functioning of LROs in lung cells, leading to pulmonary fibrosis. Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico. About 45 percent of affected individuals from other populations have mutations in the HPS1 gene. Mutations in the HPS3 gene are found in about 25 percent of affected people from Puerto Rico and in approximately 20 percent of affected individuals from other areas. The other genes associated with Hermansky-Pudlak syndrome each account for a small percentage of cases of this condition. In some people with Hermansky-Pudlak syndrome, the genetic cause of the disorder is unknown.",GHR,Hermansky-Pudlak syndrome +Is Hermansky-Pudlak syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Hermansky-Pudlak syndrome +What are the treatments for Hermansky-Pudlak syndrome ?,These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - MedlinePlus Encyclopedia: Albinism - MedlinePlus Encyclopedia: Colitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Hermansky-Pudlak syndrome +What is (are) incontinentia pigmenti ?,"Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.",GHR,incontinentia pigmenti +How many people are affected by incontinentia pigmenti ?,"Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.",GHR,incontinentia pigmenti +What are the genetic changes related to incontinentia pigmenti ?,"Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.",GHR,incontinentia pigmenti +Is incontinentia pigmenti inherited ?,"This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti. In males (who have only one X chromosome), most IKBKG mutations result in a total loss of the IKBKG protein. A lack of this protein appears to be lethal early in development, so few males are born with incontinentia pigmenti. Affected males who survive may have an IKBKG mutation with relatively mild effects, an IKBKG mutation in only some of the body's cells (mosaicism), or an extra copy of the X chromosome in each cell. Some people with incontinentia pigmenti inherit an IKBKG mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,incontinentia pigmenti +What are the treatments for incontinentia pigmenti ?,These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,incontinentia pigmenti +What is (are) Cornelia de Lange syndrome ?,"Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction. Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition.",GHR,Cornelia de Lange syndrome +How many people are affected by Cornelia de Lange syndrome ?,"Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.",GHR,Cornelia de Lange syndrome +What are the genetic changes related to Cornelia de Lange syndrome ?,"Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3. Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common. The proteins produced from all five genes contribute to the structure or function of the cohesin complex, a group of proteins with an important role in directing development before birth. Within cells, the cohesin complex helps regulate the structure and organization of chromosomes, stabilize cells' genetic information, and repair damaged DNA. The cohesin complex also regulates the activity of certain genes that guide the development of limbs, face, and other parts of the body. Mutations in the NIPBL, SMC1A, HDAC8, RAD21, and SMC3 genes cause Cornelia de Lange syndrome by impairing the function of the cohesin complex, which disrupts gene regulation during critical stages of early development. The features of Cornelia de Lange syndrome vary widely, and the severity of the disorder can differ even in individuals with the same gene mutation. Researchers suspect that additional genetic or environmental factors may be important for determining the specific signs and symptoms in each individual. In general, SMC1A, RAD21, and SMC3 gene mutations cause milder signs and symptoms than NIPBL gene mutations. Mutations in the HDAC8 gene cause a somewhat different set of features, including delayed closure of the ""soft spot"" on the head (the anterior fontanelle) in infancy, widely spaced eyes, and dental abnormalities. Like affected individuals with NIPBL gene mutations, those with HDAC8 gene mutations may have significant intellectual disability. In about 30 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Researchers are looking for additional changes in the five known genes, as well as mutations in other genes, that may cause this condition.",GHR,Cornelia de Lange syndrome +Is Cornelia de Lange syndrome inherited ?,"When Cornelia de Lange syndrome is caused by mutations in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new gene mutations and occur in people with no history of the condition in their family. When Cornelia de Lange syndrome is caused by mutations in the HDAC8 or SMC1A gene, the condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. Studies of X-linked Cornelia de Lange syndrome indicate that one copy of the altered gene in each cell may be sufficient to cause the condition. Unlike X-linked recessive conditions, in which males are more frequently affected or experience more severe symptoms than females, X-linked dominant Cornelia de Lange syndrome appears to affect males and females similarly. Most cases result from new mutations in the HDAC8 or SMC1A gene and occur in people with no history of the condition in their family.",GHR,Cornelia de Lange syndrome +What are the treatments for Cornelia de Lange syndrome ?,These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cornelia de Lange syndrome +"What is (are) autoimmune polyglandular syndrome, type 1 ?","Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. Mucocutaneous candidiasis is a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Autoimmune polyglandular syndrome, type 1 can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, a butterfly-shaped gland at the base of the neck called the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition.",GHR,"autoimmune polyglandular syndrome, type 1" +"How many people are affected by autoimmune polyglandular syndrome, type 1 ?","Autoimmune polyglandular syndrome, type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.",GHR,"autoimmune polyglandular syndrome, type 1" +"What are the genetic changes related to autoimmune polyglandular syndrome, type 1 ?","Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues. Mutations in the AIRE gene reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can turn against itself and attack the body's own organs. This reaction, which is known as autoimmunity, results in inflammation and can damage otherwise healthy cells and tissues. Damage to the adrenal glands, parathyroid glands, and other organs underlies many of the major features of autoimmune polyglandular syndrome, type 1. It remains unclear why people with this condition tend to get candidiasis infections. Although most of the characteristic features of autoimmune polyglandular syndrome, type 1 result from mutations in the AIRE gene, researchers believe that variations in other genes may help explain why the signs and symptoms of this condition can vary among affected individuals.",GHR,"autoimmune polyglandular syndrome, type 1" +"Is autoimmune polyglandular syndrome, type 1 inherited ?","This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"autoimmune polyglandular syndrome, type 1" +"What are the treatments for autoimmune polyglandular syndrome, type 1 ?","These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1: - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1 - MedlinePlus Encyclopedia: Addison's Disease - MedlinePlus Encyclopedia: Autoimmune Disorders - MedlinePlus Encyclopedia: Cutaneous Candidiasis - MedlinePlus Encyclopedia: Hypoparathyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"autoimmune polyglandular syndrome, type 1" +What is (are) progressive familial intrahepatic cholestasis ?,"Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly). There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma. Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.",GHR,progressive familial intrahepatic cholestasis +How many people are affected by progressive familial intrahepatic cholestasis ?,"PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States.",GHR,progressive familial intrahepatic cholestasis +What are the genetic changes related to progressive familial intrahepatic cholestasis ?,"Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC. ATP8B1 gene mutations cause PFIC1. The ATP8B1 gene provides instructions for making a protein that helps to maintain an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. In its role in maintaining bile acid homeostasis, some researchers believe that the ATP8B1 protein is involved in moving certain fats across cell membranes. Mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells, damaging these cells and causing liver disease. The ATP8B1 protein is found throughout the body, but it is unclear how a lack of this protein causes short stature, deafness, and other signs and symptoms of PFIC1. Mutations in the ABCB11 gene are responsible for PFIC2. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in the buildup of bile salts in liver cells, damaging these cells and causing liver disease. ABCB4 gene mutations cause PFIC3. The ABCB4 gene provides instructions for making a protein that moves certain fats called phospholipids across cell membranes. Outside liver cells, phospholipids attach (bind) to bile acids. Large amounts of bile acids can be toxic when they are not bound to phospholipids. Mutations in the ABCB4 gene lead to a lack of phospholipids available to bind to bile acids. A buildup of free bile acids damages liver cells and leads to liver disease. Some people with PFIC do not have a mutation in the ATP8B1, ABCB11, or ABCB4 gene. In these cases, the cause of the condition is unknown.",GHR,progressive familial intrahepatic cholestasis +Is progressive familial intrahepatic cholestasis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,progressive familial intrahepatic cholestasis +What are the treatments for progressive familial intrahepatic cholestasis ?,These resources address the diagnosis or management of progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3 - Genetic Testing Registry: Progressive intrahepatic cholestasis - MedlinePlus Encyclopedia: Cholestasis - MedlinePlus Encyclopedia: Hepatocellular Carcinoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,progressive familial intrahepatic cholestasis +What is (are) hyperlysinemia ?,"Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.",GHR,hyperlysinemia +How many people are affected by hyperlysinemia ?,The incidence of hyperlysinemia is unknown.,GHR,hyperlysinemia +What are the genetic changes related to hyperlysinemia ?,"Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body. When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.",GHR,hyperlysinemia +Is hyperlysinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hyperlysinemia +What are the treatments for hyperlysinemia ?,These resources address the diagnosis or management of hyperlysinemia: - Genetic Testing Registry: Hyperlysinemia - Genetic Testing Registry: Saccharopinuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hyperlysinemia +What is (are) frontonasal dysplasia ?,"Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.",GHR,frontonasal dysplasia +How many people are affected by frontonasal dysplasia ?,Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.,GHR,frontonasal dysplasia +What are the genetic changes related to frontonasal dysplasia ?,"Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth. ALX3, ALX4, or ALX1 gene mutations reduce or eliminate function of the respective protein. As a result, the regulation of cell organization during development of the head and face is disrupted, particularly affecting the middle of the face. Abnormal development of the nose, philtrum, and upper lip leads to the facial clefts that characterize this disorder. This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, and other features of frontonasal dysplasia.",GHR,frontonasal dysplasia +Is frontonasal dysplasia inherited ?,"When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When ALX4 gene mutations cause frontonasal dysplasia, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,frontonasal dysplasia +What are the treatments for frontonasal dysplasia ?,These resources address the diagnosis or management of frontonasal dysplasia: - Genetic Testing Registry: Frontonasal dysplasia 1 - Genetic Testing Registry: Frontonasal dysplasia 2 - Genetic Testing Registry: Frontonasal dysplasia 3 - KidsHealth from Nemours: Cleft Lip and Palate - MedlinePlus Encyclopedia: Head and Face Reconstruction - Mount Sinai Hospital: Cleft Nasal Deformity - University of Rochester Medical Center: Nasal Alveolar Molding These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,frontonasal dysplasia +What is (are) progressive familial heart block ?,"Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria. Heart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death. Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms. Most cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.",GHR,progressive familial heart block +How many people are affected by progressive familial heart block ?,"The prevalence of progressive familial heart block is unknown. In the United States, about 1 in 5,000 individuals have complete heart block from any cause; worldwide, about 1 in 2,500 individuals have complete heart block.",GHR,progressive familial heart block +What are the genetic changes related to progressive familial heart block ?,"Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the atria and ventricles, and maintaining a normal heart rhythm. The SCN5A and TRPM4 gene mutations that cause progressive familial heart block alter the normal function of the channels. As a result of these channel alterations, cardiac cells have difficulty producing and transmitting the electrical signals that are necessary to coordinate normal heartbeats, leading to heart block. Death of these impaired cardiac cells over time can lead to fibrosis, worsening the heart block. Mutations in other genes, some of which are unknown, account for the remaining cases of progressive familial heart block.",GHR,progressive familial heart block +Is progressive familial heart block inherited ?,"Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance. In most cases, an affected person has one parent with progressive familial heart block.",GHR,progressive familial heart block +What are the treatments for progressive familial heart block ?,"These resources address the diagnosis or management of progressive familial heart block: - American Heart Association: Common Tests for Arrhythmia - Genetic Testing Registry: Progressive familial heart block type 1A - Genetic Testing Registry: Progressive familial heart block type 1B - Genetic Testing Registry: Progressive familial heart block type 2 - MedlinePlus Health Topic: Pacemakers and Implantable Defibrillators - National Heart, Lung, and Blood Institute: How Does a Pacemaker Work? - National Heart, Lung, and Blood Institute: How is Sudden Cardiac Arrest Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,progressive familial heart block +What is (are) myasthenia gravis ?,"Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling. Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest. Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications. People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.",GHR,myasthenia gravis +How many people are affected by myasthenia gravis ?,"Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals.",GHR,myasthenia gravis +What are the genetic changes related to myasthenia gravis ?,"Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder. Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. In myasthenia gravis, the immune system disrupts the transmission of nerve impulses to muscles by producing a protein called an antibody that attaches (binds) to proteins important for nerve signal transmission. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in myasthenia gravis attacks a normal human protein. In most affected individuals, the antibody targets a protein called acetylcholine receptor (AChR); in others, the antibodies attack a related protein called muscle-specific kinase (MuSK). In both cases, the abnormal antibodies lead to a reduction of available AChR. The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement. In myasthenia gravis, because of the abnormal immune response, less AChR is present, which reduces signaling between nerve and muscle cells. These signaling abnormalities lead to decreased muscle movement and the muscle weakness characteristic of this condition. It is unclear why the immune system malfunctions in people with myasthenia gravis. About 75 percent of affected individuals have an abnormally large and overactive thymus, which is a gland located behind the breastbone that plays an important role in the immune system. The thymus sometimes develops tumors (thymomas) that are usually noncancerous (benign). However, the relationship between the thymus problems and the specific immune system malfunction that occurs in myasthenia gravis is not well understood. People with myasthenia gravis are at increased risk of developing other autoimmune disorders, including autoimmune thyroid disease and systemic lupus erythematosus. Gene variations that affect immune system function likely affect the risk of developing myasthenia gravis and other autoimmune disorders. Some families are affected by an inherited disorder with symptoms similar to those of myasthenia gravis, but in which antibodies to the AChR or MuSK proteins are not present. This condition, which is not an autoimmune disorder, is called congenital myasthenic syndrome.",GHR,myasthenia gravis +Is myasthenia gravis inherited ?,"In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown.",GHR,myasthenia gravis +What are the treatments for myasthenia gravis ?,These resources address the diagnosis or management of myasthenia gravis: - Cleveland Clinic - Genetic Testing Registry: Myasthenia gravis - Genetic Testing Registry: Myasthenia gravis with thymus hyperplasia - MedlinePlus Encyclopedia: Acetylcholine Receptor Antibody - MedlinePlus Encyclopedia: Tensilon Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myasthenia gravis +What is (are) prostate cancer ?,"Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm. Early prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer. The severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening. Some cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone metastases of prostate cancer most often cause pain in the lower back, pelvis, or hips. A small percentage of all prostate cancers cluster in families. These hereditary cancers are associated with inherited gene mutations. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.",GHR,prostate cancer +How many people are affected by prostate cancer ?,"About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from it, this common cancer is still the second leading cause of cancer death among men in the United States. More than 60 percent of prostate cancers are diagnosed after age 65, and the disorder is rare before age 40. In the United States, African Americans have a higher risk of developing prostate cancer than do men of other ethnic backgrounds, and they also have a higher risk of dying from the disease.",GHR,prostate cancer +What are the genetic changes related to prostate cancer ?,"Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetime and are present only in certain cells in the prostate. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in prostate cancer cells. Less commonly, genetic changes present in essentially all of the body's cells increase the risk of developing prostate cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop prostate cancer. Inherited mutations in particular genes, such as BRCA1, BRCA2, and HOXB13, account for some cases of hereditary prostate cancer. Men with mutations in these genes have a high risk of developing prostate cancer and, in some cases, other cancers during their lifetimes. In addition, men with BRCA2 or HOXB13 gene mutations may have a higher risk of developing life-threatening forms of prostate cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. For this reason, the BRCA1 and BRCA2 proteins are considered to be tumor suppressors, which means that they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair the cell's ability to fix damaged DNA, allowing potentially damaging mutations to persist. As these defects accumulate, they can trigger cells to grow and divide uncontrollably and form a tumor. The HOXB13 gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the protein produced from the HOXB13 gene is called a transcription factor. Like BRCA1 and BRCA2, the HOXB13 protein is thought to act as a tumor suppressor. HOXB13 gene mutations may result in impairment of the protein's tumor suppressor function, resulting in the uncontrolled cell growth and division that can lead to prostate cancer. Inherited variations in dozens of other genes have been studied as possible risk factors for prostate cancer. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1, BRCA2, or HOXB13 genes. Others act as tumor suppressors through different pathways. Changes in these genes probably make only a small contribution to overall prostate cancer risk. However, researchers suspect that the combined influence of variations in many of these genes may significantly impact a person's risk of developing this form of cancer. In many families, the genetic changes associated with hereditary prostate cancer are unknown. Identifying additional genetic risk factors for prostate cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that may contribute to a person's risk of developing prostate cancer. These factors include a high-fat diet that includes an excess of meat and dairy and not enough vegetables, a largely inactive (sedentary) lifestyle, obesity, excessive alcohol use, or exposure to certain toxic chemicals. A history of prostate cancer in closely related family members is also an important risk factor, particularly if the cancer occurred at an early age.",GHR,prostate cancer +Is prostate cancer inherited ?,"Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1, BRCA2, and HOXB13 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of prostate cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.",GHR,prostate cancer +What are the treatments for prostate cancer ?,"These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePlus Encyclopedia: Prostate Cancer Staging - MedlinePlus Encyclopedia: Prostate Cancer Treatment - MedlinePlus Encyclopedia: Prostate-Specific Antigen (PSA) Blood Test - MedlinePlus Encyclopedia: Radical Prostatectomy - MedlinePlus Health Topic: Prostate Cancer Screening - National Cancer Institute: Prostate-Specific Antigen (PSA) Test - U.S. Preventive Services Task Force These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,prostate cancer +What is (are) essential thrombocythemia ?,"Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear. Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.",GHR,essential thrombocythemia +How many people are affected by essential thrombocythemia ?,Essential thrombocythemia affects an estimated 1 to 24 per 1 million people worldwide.,GHR,essential thrombocythemia +What are the genetic changes related to essential thrombocythemia ?,"The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown. The proteins produced from the JAK2, MPL, and THPO genes are part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. These proteins work together to turn on (activate) the JAK/STAT pathway, which promotes the proliferation of blood cells, particularly platelets and their precursor cells, megakaryocytes. Mutations in the JAK2, MPL, and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of megakaryocytes, which results in an increased number of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia. Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition. Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition.",GHR,essential thrombocythemia +Is essential thrombocythemia inherited ?,"Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When it is inherited, the condition is called familial essential thrombocythemia.",GHR,essential thrombocythemia +What are the treatments for essential thrombocythemia ?,These resources address the diagnosis or management of essential thrombocythemia: - Cleveland Clinic: Thrombocytosis - Genetic Testing Registry: Essential thrombocythemia - Merck Manual for Health Care Professionals: Essential Thrombocythemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,essential thrombocythemia +What is (are) X-linked infantile nystagmus ?,"X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements.",GHR,X-linked infantile nystagmus +How many people are affected by X-linked infantile nystagmus ?,"The incidence of all forms of infantile nystagmus is estimated to be 1 in 5,000 newborns; however, the precise incidence of X-linked infantile nystagmus is unknown.",GHR,X-linked infantile nystagmus +What are the genetic changes related to X-linked infantile nystagmus ?,"Mutations in the FRMD7 gene cause X-linked infantile nystagmus. The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found mostly in areas of the brain that control eye movement and in the light-sensitive tissue at the back of the eye (retina). Research suggests that FRMD7 gene mutations cause nystagmus by disrupting the development of certain nerve cells in the brain and retina. In some people with X-linked infantile nystagmus, no mutation in the FRMD7 gene has been found. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder.",GHR,X-linked infantile nystagmus +Is X-linked infantile nystagmus inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two copies of the X chromosome), one altered copy of the gene in each cell can cause the condition, although affected females may experience less severe symptoms than affected males. Approximately half of the females with only one altered copy of the FRMD7 gene in each cell have no symptoms of this condition.",GHR,X-linked infantile nystagmus +What are the treatments for X-linked infantile nystagmus ?,"These resources address the diagnosis or management of X-linked infantile nystagmus: - Gene Review: Gene Review: FRMD7-Related Infantile Nystagmus - Genetic Testing Registry: Infantile nystagmus, X-linked - MedlinePlus Encyclopedia: Nystagmus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,X-linked infantile nystagmus +What is (are) primary carnitine deficiency ?,"Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,primary carnitine deficiency +How many people are affected by primary carnitine deficiency ?,"The incidence of primary carnitine deficiency in the general population is approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every 40,000 newborns.",GHR,primary carnitine deficiency +What are the genetic changes related to primary carnitine deficiency ?,"Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.",GHR,primary carnitine deficiency +Is primary carnitine deficiency inherited ?,"Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene. Carriers of SLC22A5 gene mutations may have some signs and symptoms related to the condition.",GHR,primary carnitine deficiency +What are the treatments for primary carnitine deficiency ?,These resources address the diagnosis or management of primary carnitine deficiency: - Baby's First Test - Gene Review: Gene Review: Systemic Primary Carnitine Deficiency - Genetic Testing Registry: Renal carnitine transport defect - The Linus Pauling Institute: L-Carnitine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,primary carnitine deficiency +What is (are) septo-optic dysplasia ?,"Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves, which carry visual information from the eyes to the brain. In affected individuals, the optic nerves are abnormally small and make fewer connections than usual between the eyes and the brain. As a result, people with optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve hypoplasia can also be associated with unusual side-to-side eye movements (nystagmus) and other eye abnormalities. The second characteristic feature of septo-optic dysplasia is the abnormal development of structures separating the right and left halves of the brain. These structures include the corpus callosum, which is a band of tissue that connects the two halves of the brain, and the septum pellucidum, which separates the fluid-filled spaces called ventricles in the brain. In the early stages of brain development, these structures may form abnormally or fail to develop at all. Depending on which structures are affected, abnormal brain development can lead to intellectual disability and other neurological problems. The third major feature of this disorder is pituitary hypoplasia. The pituitary is a gland at the base of the brain that produces several hormones. These hormones help control growth, reproduction, and other critical body functions. Underdevelopment of the pituitary can lead to a shortage (deficiency) of many essential hormones. Most commonly, pituitary hypoplasia causes growth hormone deficiency, which results in slow growth and unusually short stature. Severe cases cause panhypopituitarism, a condition in which the pituitary produces no hormones. Panhypopituitarism is associated with slow growth, low blood sugar (hypoglycemia), genital abnormalities, and problems with sexual development. The signs and symptoms of septo-optic dysplasia can vary significantly. Some researchers suggest that septo-optic dysplasia should actually be considered a group of related conditions rather than a single disorder. About one-third of people diagnosed with septo-optic dysplasia have all three major features; most affected individuals have two of the major features. In rare cases, septo-optic dysplasia is associated with additional signs and symptoms, including recurrent seizures (epilepsy), delayed development, and abnormal movements.",GHR,septo-optic dysplasia +How many people are affected by septo-optic dysplasia ?,"Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns.",GHR,septo-optic dysplasia +What are the genetic changes related to septo-optic dysplasia ?,"In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.",GHR,septo-optic dysplasia +Is septo-optic dysplasia inherited ?,"Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies of an associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In a few affected families, the disorder has had an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the condition.",GHR,septo-optic dysplasia +What are the treatments for septo-optic dysplasia ?,These resources address the diagnosis or management of septo-optic dysplasia: - Genetic Testing Registry: Septo-optic dysplasia sequence - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Hypopituitarism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,septo-optic dysplasia +What is (are) Fanconi anemia ?,"Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally. More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly). Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.",GHR,Fanconi anemia +How many people are affected by Fanconi anemia ?,"Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans.",GHR,Fanconi anemia +What are the genetic changes related to Fanconi anemia ?,"Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs. Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of the ICL so the cross-link can be removed and DNA replication can continue. Eighty to 90 percent of cases of Fanconi anemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG. These genes provide instructions for producing components of the FA core complex. Mutations in any of the many genes associated with the FA core complex will cause the complex to be nonfunctional and disrupt the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop acute myeloid leukemia or other cancers.",GHR,Fanconi anemia +Is Fanconi anemia inherited ?,"Fanconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Fanconi anemia +What are the treatments for Fanconi anemia ?,"These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene Review: Fanconi Anemia - Genetic Testing Registry: Fanconi anemia - Genetic Testing Registry: Fanconi anemia, complementation group A - Genetic Testing Registry: Fanconi anemia, complementation group B - Genetic Testing Registry: Fanconi anemia, complementation group C - Genetic Testing Registry: Fanconi anemia, complementation group D1 - Genetic Testing Registry: Fanconi anemia, complementation group D2 - Genetic Testing Registry: Fanconi anemia, complementation group E - Genetic Testing Registry: Fanconi anemia, complementation group F - Genetic Testing Registry: Fanconi anemia, complementation group G - Genetic Testing Registry: Fanconi anemia, complementation group I - Genetic Testing Registry: Fanconi anemia, complementation group J - Genetic Testing Registry: Fanconi anemia, complementation group L - Genetic Testing Registry: Fanconi anemia, complementation group M - Genetic Testing Registry: Fanconi anemia, complementation group N - Genetic Testing Registry: Fanconi anemia, complementation group O - Genetic Testing Registry: Fanconi anemia, complementation group P - MedlinePlus Encyclopedia: Fanconi's Anemia - National Cancer Institute: Adult Acute Myeloid Leukemia Treatment PDQ - National Cancer Institute: Myelodysplastic Syndromes Treatment PDQ - National Heart Lung and Blood Institute: How is Fanconi Anemia Treated? - The Rockefeller University: International Fanconi Anemia Registry These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Fanconi anemia +What is (are) familial hemophagocytic lymphohistiocytosis ?,"Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs. Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells in the bone marrow, a process called hemophagocytosis. As a result, affected individuals have low numbers of red blood cells (anemia) and a reduction in the number of blood cells involved in clotting (platelets). A reduction in platelets may cause easy bruising and abnormal bleeding. The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience irritability, delayed closure of the bones of the skull in infants, neck stiffness, abnormal muscle tone, impaired muscle coordination, paralysis, blindness, seizures, and coma. In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. Affected individuals also have an increased risk of developing cancers of blood-forming cells (leukemia and lymphoma). Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. They usually occur when the immune system launches an exaggerated response to an infection, but may also occur in the absence of infection. Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months.",GHR,familial hemophagocytic lymphohistiocytosis +How many people are affected by familial hemophagocytic lymphohistiocytosis ?,"Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.",GHR,familial hemophagocytic lymphohistiocytosis +What are the genetic changes related to familial hemophagocytic lymphohistiocytosis ?,"Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function. Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or UNC13D genes. Smaller numbers of cases are caused by mutations in other known genes. In some affected individuals, the genetic cause of the disorder is unknown. The gene mutations that cause familial hemophagocytic lymphohistiocytosis impair the body's ability to regulate the immune system. These changes result in the exaggerated immune response characteristic of this condition.",GHR,familial hemophagocytic lymphohistiocytosis +Is familial hemophagocytic lymphohistiocytosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,familial hemophagocytic lymphohistiocytosis +What are the treatments for familial hemophagocytic lymphohistiocytosis ?,"These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4 - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5 - The Merck Manual for Healthcare Professionals - University of Minnesota: Pediatric Blood & Marrow Transplantation Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial hemophagocytic lymphohistiocytosis +What is (are) Brody myopathy ?,"Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.",GHR,Brody myopathy +How many people are affected by Brody myopathy ?,"Brody myopathy is a rare condition, although its exact prevalence is unknown.",GHR,Brody myopathy +What are the genetic changes related to Brody myopathy ?,"Mutations in the ATP2A1 gene cause Brody myopathy. The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing positively charged calcium atoms (calcium ions). When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation. ATP2A1 gene mutations lead to the production of a SERCA1 enzyme with decreased or no function. As a result, calcium ions are slow to enter the sarcoplasmic reticulum and muscle relaxation is delayed. After exercise or strenuous activity, during which the muscles rapidly contract and relax, people with Brody myopathy develop muscle cramps because their muscles cannot fully relax.",GHR,Brody myopathy +Is Brody myopathy inherited ?,"Brody myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with autosomal recessive Brody myopathy do not have an identified mutation in the ATP2A1 gene; the cause of the disease in these individuals is unknown.",GHR,Brody myopathy +What are the treatments for Brody myopathy ?,These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Brody myopathy +What is (are) Ollier disease ?,"Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles. Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian or liver cancer. People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities. A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).",GHR,Ollier disease +How many people are affected by Ollier disease ?,"Ollier disease is estimated to occur in 1 in 100,000 people.",GHR,Ollier disease +What are the genetic changes related to Ollier disease ?,"In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Ollier disease.",GHR,Ollier disease +Is Ollier disease inherited ?,"Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Ollier disease, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.",GHR,Ollier disease +What are the treatments for Ollier disease ?,These resources address the diagnosis or management of Ollier disease: - Genetic Testing Registry: Enchondromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Ollier disease +What is (are) factor XIII deficiency ?,"Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition. Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.",GHR,factor XIII deficiency +How many people are affected by factor XIII deficiency ?,"Inherited factor XIII deficiency affects 1 to 3 per million people worldwide. Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis.",GHR,factor XIII deficiency +What are the genetic changes related to factor XIII deficiency ?,"Inherited factor XIII deficiency results from mutations in the F13A1 gene or, less commonly, the F13B gene. These genes provide instructions for making the two parts (subunits) of a protein called factor XIII. This protein plays a critical role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair. Factor XIII acts at the end of the cascade to strengthen and stabilize newly formed clots, preventing further blood loss. Mutations in the F13A1 or F13B gene significantly reduce the amount of functional factor XIII available to participate in blood clotting. In most people with the inherited form of the condition, factor XIII levels in the bloodstream are less than 5 percent of normal. A loss of this protein's activity weakens blood clots, preventing the clots from stopping blood loss effectively. The acquired form of factor XIII deficiency results when the production of factor XIII is reduced or when the body uses factor XIII faster than cells can replace it. Acquired factor XIII deficiency is generally mild because levels of factor XIII in the bloodstream are 20 to 70 percent of normal; levels above 10 percent of normal are usually adequate to prevent spontaneous bleeding episodes. Acquired factor XIII deficiency can be caused by disorders including an inflammatory disease of the liver called hepatitis, scarring of the liver (cirrhosis), inflammatory bowel disease, overwhelming bacterial infections (sepsis), and several types of cancer. Acquired factor XIII deficiency can also be caused by abnormal activation of the immune system, which produces specialized proteins called autoantibodies that attack and disable the factor XIII protein. The production of autoantibodies against factor XIII is sometimes associated with immune system diseases such as systemic lupus erythematosus and rheumatoid arthritis. In other cases, the trigger for autoantibody production is unknown.",GHR,factor XIII deficiency +Is factor XIII deficiency inherited ?,"Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations. Some people, including parents of individuals with factor XIII deficiency, carry a single mutated copy of the F13A1 or F13B gene in each cell. These mutation carriers have a reduced amount of factor XIII in their bloodstream (20 to 60 percent of normal), and they may experience abnormal bleeding after surgery, dental work, or major trauma. However, most people who carry one mutated copy of the F13A1 or F13B gene do not have abnormal bleeding episodes under normal circumstances, and so they never come to medical attention. The acquired form of factor XIII deficiency is not inherited and does not run in families.",GHR,factor XIII deficiency +What are the treatments for factor XIII deficiency ?,"These resources address the diagnosis or management of factor XIII deficiency: - Genetic Testing Registry: Factor xiii, a subunit, deficiency of - Genetic Testing Registry: Factor xiii, b subunit, deficiency of These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,factor XIII deficiency +What is (are) Prader-Willi syndrome ?,"Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).",GHR,Prader-Willi syndrome +How many people are affected by Prader-Willi syndrome ?,"Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide.",GHR,Prader-Willi syndrome +What are the genetic changes related to Prader-Willi syndrome ?,"Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted in each cell. People with this chromosomal change are missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off (inactive). In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15. It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome 15. Among these are genes that provide instructions for making molecules called small nucleolar RNAs (snoRNAs). These molecules have a variety of functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and in other cell activities.) Studies suggest that the loss of a particular group of snoRNA genes, known as the SNORD116 cluster, may play a major role in causing the signs and symptoms of Prader-Willi syndrome. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder. In some people with Prader-Willi syndrome, the loss of a gene called OCA2 is associated with unusually fair skin and light-colored hair. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Prader-Willi syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes. Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition.",GHR,Prader-Willi syndrome +Is Prader-Willi syndrome inherited ?,"Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next.",GHR,Prader-Willi syndrome +What are the treatments for Prader-Willi syndrome ?,These resources address the diagnosis or management of Prader-Willi syndrome: - Gene Review: Gene Review: Prader-Willi Syndrome - Genetic Testing Registry: Prader-Willi syndrome - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Prader-Willi Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Prader-Willi syndrome +What is (are) rheumatoid arthritis ?,"Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although larger joints (such as the shoulders, hips, and knees) may become involved later in the disease. Joints are typically affected in a symmetrical pattern; for example, if joints in the hand are affected, both hands tend to be involved. People with rheumatoid arthritis often report that their joint pain and stiffness is worse when getting out of bed in the morning or after a long rest. Rheumatoid arthritis can also cause inflammation of other tissues and organs, including the eyes, lungs, and blood vessels. Additional signs and symptoms of the condition can include a loss of energy, a low fever, weight loss, and a shortage of red blood cells (anemia). Some affected individuals develop rheumatoid nodules, which are firm lumps of noncancerous tissue that can grow under the skin and elsewhere in the body. The signs and symptoms of rheumatoid arthritis usually appear in mid- to late adulthood. Many affected people have episodes of symptoms (flares) followed by periods with no symptoms (remissions) for the rest of their lives. In severe cases, affected individuals have continuous health problems related to the disease for many years. The abnormal inflammation can lead to severe joint damage, which limits movement and can cause significant disability.",GHR,rheumatoid arthritis +How many people are affected by rheumatoid arthritis ?,"Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors.",GHR,rheumatoid arthritis +What are the genetic changes related to rheumatoid arthritis ?,"Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with rheumatoid arthritis, the immune system triggers abnormal inflammation in the membrane that lines the joints (the synovium). When the synovium is inflamed, it causes pain, swelling, and stiffness of the joint. In severe cases, the inflammation also affects the bone, cartilage, and other tissues within the joint, causing more serious damage. Abnormal immune reactions also underlie the features of rheumatoid arthritis affecting other parts of the body. Variations in dozens of genes have been studied as risk factors for rheumatoid arthritis. Most of these genes are known or suspected to be involved in immune system function. The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes, especially the HLA-DRB1 gene. The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Changes in other genes appear to have a smaller impact on a person's overall risk of developing the condition. Other, nongenetic factors are also believed to play a role in rheumatoid arthritis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), occupational exposure to certain kinds of dust or fibers, and viral or bacterial infections. Long-term smoking is a well-established risk factor for developing rheumatoid arthritis; it is also associated with more severe signs and symptoms in people who have the disease.",GHR,rheumatoid arthritis +Is rheumatoid arthritis inherited ?,"The inheritance pattern of rheumatoid arthritis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative with rheumatoid arthritis likely increases a person's risk of developing the condition.",GHR,rheumatoid arthritis +What are the treatments for rheumatoid arthritis ?,These resources address the diagnosis or management of rheumatoid arthritis: - American College of Rheumatology: ACR-Endorsed Criteria for Rheumatic Diseases - American College of Rheumatology: Treatment for Rheumatic Diseases - Genetic Testing Registry: Rheumatoid arthritis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,rheumatoid arthritis +What is (are) myopathy with deficiency of iron-sulfur cluster assembly enzyme ?,"Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This condition does not usually affect other types of muscle, such as the heart (cardiac) muscle. From early childhood, affected individuals experience extreme fatigue in response to physical activity (exercise intolerance). Mild exertion results in a rapid heartbeat (tachycardia), shortness of breath, and muscle weakness and pain. However, people with this condition typically have normal muscle strength when they are at rest. Prolonged or recurrent physical activity causes more severe signs and symptoms, including a breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. In most affected individuals, the muscle problems associated with this condition do not worsen with time. However, at least two people with a severe variant of this disorder have experienced progressive muscle weakness and wasting starting in childhood.",GHR,myopathy with deficiency of iron-sulfur cluster assembly enzyme +How many people are affected by myopathy with deficiency of iron-sulfur cluster assembly enzyme ?,This condition has been reported in several families of northern Swedish ancestry.,GHR,myopathy with deficiency of iron-sulfur cluster assembly enzyme +What are the genetic changes related to myopathy with deficiency of iron-sulfur cluster assembly enzyme ?,"Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). These clusters are critical for the function of many different proteins, including those needed for DNA repair and the regulation of iron levels. Proteins containing Fe-S clusters are also necessary for energy production within mitochondria, which are the cell structures that convert the energy from food into a form that cells can use. Mutations in the ISCU gene severely limit the amount of iron-sulfur cluster assembly enzyme that is made in cells. A shortage of this enzyme prevents the normal production of proteins that contain Fe-S clusters, which disrupts a variety of cellular activities. A reduction in the amount of iron-sulfur cluster assembly enzyme is particularly damaging to skeletal muscle cells. Within the mitochondria of these cells, a lack of this enzyme causes problems with energy production and an overload of iron. These defects lead to exercise intolerance and the other features of myopathy with deficiency of iron-sulfur cluster assembly enzyme.",GHR,myopathy with deficiency of iron-sulfur cluster assembly enzyme +Is myopathy with deficiency of iron-sulfur cluster assembly enzyme inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,myopathy with deficiency of iron-sulfur cluster assembly enzyme +What are the treatments for myopathy with deficiency of iron-sulfur cluster assembly enzyme ?,"These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme: - Gene Review: Gene Review: Myopathy with Deficiency of ISCU - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary - MedlinePlus Encyclopedia: Rhabdomyolysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,myopathy with deficiency of iron-sulfur cluster assembly enzyme +"What is (are) 48,XXYY syndrome ?","48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. 48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children (infertility). 48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age. They tend to develop a tremor that typically starts in adolescence and worsens with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, allergies, asthma, type 2 diabetes, seizures, and congenital heart defects. Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. Learning disabilities, especially reading problems, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and/or autism spectrum disorders, which affect communication and social interaction.",GHR,"48,XXYY syndrome" +"How many people are affected by 48,XXYY syndrome ?","48,XXYY syndrome is estimated to affect 1 in 18,000 to 50,000 males.",GHR,"48,XXYY syndrome" +"What are the genetic changes related to 48,XXYY syndrome ?","48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.",GHR,"48,XXYY syndrome" +"Is 48,XXYY syndrome inherited ?","This condition is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of the body's cells. In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY embryo very soon after fertilization has occurred. This means that an normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo.",GHR,"48,XXYY syndrome" +"What are the treatments for 48,XXYY syndrome ?","These resources address the diagnosis or management of 48,XXYY syndrome: - Genetic Testing Registry: XXYY syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"48,XXYY syndrome" +What is (are) hyperparathyroidism-jaw tumor syndrome ?,"Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually noncancerous (benign), in which case they are called adenomas. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 25 to 50 percent of affected individuals have this symptom. Other tumors, both benign and cancerous, are often seen in hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in about 75 percent of women with this condition. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found.",GHR,hyperparathyroidism-jaw tumor syndrome +How many people are affected by hyperparathyroidism-jaw tumor syndrome ?,The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature.,GHR,hyperparathyroidism-jaw tumor syndrome +What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ?,"Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell. CDC73 gene mutations cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin. Some people with hyperparathyroidism-jaw tumor syndrome do not have identified mutations in the CDC73 gene. The cause of the condition in these individuals is unknown.",GHR,hyperparathyroidism-jaw tumor syndrome +Is hyperparathyroidism-jaw tumor syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hyperparathyroidism-jaw tumor syndrome +What are the treatments for hyperparathyroidism-jaw tumor syndrome ?,These resources address the diagnosis or management of hyperparathyroidism-jaw tumor syndrome: - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 2 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hyperparathyroidism-jaw tumor syndrome +What is (are) hereditary hypophosphatemic rickets ?,"Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees (a condition in which the lower legs are positioned at an outward angle). These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time. Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia. Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer. The different inheritance patterns are described below. Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).",GHR,hereditary hypophosphatemic rickets +How many people are affected by hereditary hypophosphatemic rickets ?,"X-linked hypophosphatemic rickets is the most common form of rickets that runs in families. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets has been identified in only a few families.",GHR,hereditary hypophosphatemic rickets +What are the genetic changes related to hereditary hypophosphatemic rickets ?,"Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition. Hereditary hypophosphatemic rickets is characterized by a phosphate imbalance in the body. Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally excrete excess phosphate in urine, and they reabsorb this mineral into the bloodstream when more is needed. However, in people with hereditary hypophosphatemic rickets, the kidneys cannot reabsorb phosphate effectively and too much of this mineral is excreted from the body in urine. As a result, not enough phosphate is available in the bloodstream to participate in normal bone development and maintenance. The genes associated with hereditary hypophosphatemic rickets are involved in maintaining the proper balance of phosphate. Many of these genes, including the PHEX gene, directly or indirectly regulate a protein called fibroblast growth factor 23 (produced from the FGF23 gene). This protein normally inhibits the kidneys' ability to reabsorb phosphate into the bloodstream. Gene mutations increase the production or reduce the breakdown of fibroblast growth factor 23. The resulting overactivity of this protein reduces phosphate reabsorption by the kidneys, leading to hypophosphatemia and the related features of hereditary hypophosphatemic rickets.",GHR,hereditary hypophosphatemic rickets +Is hereditary hypophosphatemic rickets inherited ?,"Hereditary hypophosphatemic rickets can have several patterns of inheritance. When the condition results from mutations in the PHEX gene, it is inherited in an X-linked dominant pattern. The PHEX gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Less commonly, hereditary hypophosphatemic rickets can have an X-linked recessive pattern of inheritance. This form of the condition is often called Dent disease. Like the PHEX gene, the gene associated with Dent disease is located on the X chromosome. In males, one altered copy of the gene in each cell is sufficient to cause the condition. In females, a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. In a few families, hereditary hypophosphatemic rickets has had an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. The rare condition HHRH has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some parents of children with HHRH have experienced hypercalcuria and kidney stones.",GHR,hereditary hypophosphatemic rickets +What are the treatments for hereditary hypophosphatemic rickets ?,"These resources address the diagnosis or management of hereditary hypophosphatemic rickets: - Gene Review: Gene Review: X-Linked Hypophosphatemia - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets - Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease - Genetic Testing Registry: Autosomal recessive hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin D refractory rickets - Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hereditary hypophosphatemic rickets +What is (are) spastic paraplegia type 11 ?,"Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin. People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech difficulties (dysarthria); reduced bladder control; and muscle wasting (amyotrophy). Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become noticeable in adolescence. Many features of spastic paraplegia type 11 are progressive. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance.",GHR,spastic paraplegia type 11 +How many people are affected by spastic paraplegia type 11 ?,"Over 100 cases of spastic paraplegia type 11 have been reported. Although this condition is thought to be rare, its exact prevalence is unknown.",GHR,spastic paraplegia type 11 +What are the genetic changes related to spastic paraplegia type 11 ?,"Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system. SPG11 gene mutations typically change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.",GHR,spastic paraplegia type 11 +Is spastic paraplegia type 11 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spastic paraplegia type 11 +What are the treatments for spastic paraplegia type 11 ?,"These resources address the diagnosis or management of spastic paraplegia type 11: - Gene Review: Gene Review: Spastic Paraplegia 11 - Genetic Testing Registry: Spastic paraplegia 11, autosomal recessive - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spastic paraplegia type 11 +What is (are) thrombocytopenia-absent radius syndrome ?,"Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal. Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. Potentially life-threatening episodes of severe bleeding (hemorrhages) may occur in the brain and other organs, especially during the first year of life. Hemorrhages can damage the brain and lead to intellectual disability. Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development. TAR syndrome is unusual among similar malformations in that affected individuals have thumbs, while people with other conditions involving an absent radius typically do not. TAR syndrome is also associated with short stature and additional skeletal abnormalities, including underdevelopment of other bones in the arms and legs. Affected individuals may also have malformations of the heart and kidneys. TAR syndrome is associated with unusual facial features including a small lower jaw (micrognathia), a prominent forehead, and low-set ears. About half of affected individuals have allergic reactions to cow's milk that may worsen the thrombocytopenia associated with this disorder.",GHR,thrombocytopenia-absent radius syndrome +How many people are affected by thrombocytopenia-absent radius syndrome ?,"TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 newborns.",GHR,thrombocytopenia-absent radius syndrome +What are the genetic changes related to thrombocytopenia-absent radius syndrome ?,"Mutations in the RBM8A gene cause TAR syndrome. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in several important cellular functions involving the production of other proteins. Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. The deletions involved in TAR syndrome eliminate at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of chromosome 1 in a region called 1q21.1. The deletion eliminates one copy of the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have been produced from it. People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. This reduction is thought to cause problems in the development of certain tissues, but it is unknown how it causes the specific signs and symptoms of TAR syndrome. No cases have been reported in which a deletion that includes the RBM8A gene occurs on both copies of chromosome 1; studies indicate that the complete loss of RNA-binding motif protein 8A is not compatible with life. Researchers sometimes refer to the deletion in chromosome 1 associated with TAR syndrome as the 200-kb deletion to distinguish it from another chromosomal abnormality called a 1q21.1 microdeletion. People with a 1q21.1 microdeletion are missing a different, larger DNA segment in the chromosome 1q21.1 region near the area where the 200-kb deletion occurs. The chromosomal change related to 1q21.1 microdeletion is often called the recurrent distal 1.35-Mb deletion.",GHR,thrombocytopenia-absent radius syndrome +Is thrombocytopenia-absent radius syndrome inherited ?,"TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chromosome 1. The affected individual usually inherits an RBM8A gene mutation from one parent. In about 75 percent of cases, the affected person inherits a copy of chromosome 1 with the 200-kb deletion from the other parent. In the remaining cases, the deletion occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. Although parents of an individual with TAR syndrome can carry an RBM8A gene mutation or a 200-kb deletion, they typically do not show signs and symptoms of the condition.",GHR,thrombocytopenia-absent radius syndrome +What are the treatments for thrombocytopenia-absent radius syndrome ?,These resources address the diagnosis or management of TAR syndrome: - Gene Review: Gene Review: Thrombocytopenia Absent Radius Syndrome - Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,thrombocytopenia-absent radius syndrome +What is (are) Jackson-Weiss syndrome ?,"Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.",GHR,Jackson-Weiss syndrome +How many people are affected by Jackson-Weiss syndrome ?,Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.,GHR,Jackson-Weiss syndrome +What are the genetic changes related to Jackson-Weiss syndrome ?,"Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.",GHR,Jackson-Weiss syndrome +Is Jackson-Weiss syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Jackson-Weiss syndrome +What are the treatments for Jackson-Weiss syndrome ?,These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Jackson-Weiss syndrome +What is (are) cystic fibrosis ?,"Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM). Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.",GHR,cystic fibrosis +How many people are affected by cystic fibrosis ?,"Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.",GHR,cystic fibrosis +What are the genetic changes related to cystic fibrosis ?,"Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.",GHR,cystic fibrosis +Is cystic fibrosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cystic fibrosis +What are the treatments for cystic fibrosis ?,These resources address the diagnosis or management of cystic fibrosis: - American Society for Reproductive Medicine: Male Infertility - Baby's First Test - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Cystic fibrosis - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Cystic Fibrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cystic fibrosis +What is (are) Guillain-Barr syndrome ?,"Guillain-Barr syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barr syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (the brain and spinal cord) to the limbs and organs. Specifically, the immune response affects a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. Guillain-Barr syndrome can affect the neurons that control muscle movement (motor neurons); the neurons that transmit sensory signals such as pain, temperature, and touch (sensory neurons); or both. As a result, affected individuals can experience muscle weakness or lose the ability to feel certain sensations. Muscle weakness or paralysis are the characteristic features of Guillain-Barr syndrome. The weakness often begins in the legs and spreads to the arms, torso, and face and is commonly accompanied by numbness, tingling, or pain. Additional signs and symptoms of the condition include difficulty swallowing and difficulty breathing. Occasionally, the nerves that control involuntary functions of the body such as blood pressure and heart rate are affected, which can lead to fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia). There are several types of Guillain-Barr syndrome, classified by the part of the peripheral nerve involved in the condition. The most common type of Guillain-Barr syndrome is acute inflammatory demyelinating polyradiculoneuropathy (AIDP). In AIDP, the immune response damages myelin, which is the covering that protects axons and promotes the efficient transmission of nerve impulses. In two other types of Guillain-Barr syndrome, acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), the axons themselves are damaged by the immune response. In AMAN, only the axons of motor neurons are damaged. In AMSAN, the axons of sensory neurons are also damaged. Because of sensory nerve damage, affected individuals can lose the ability to sense the position of their limbs and can have abnormal or absent reflexes (areflexia). Miller Fisher syndrome, another type of Guillain-Barr syndrome, involves cranial nerves, which extend from the brain to various areas of the head and neck. Miller Fisher syndrome is characterized by three features: weakness or paralysis of the muscles that move the eyes (ophthalmoplegia), problems with balance and coordination (ataxia), and areflexia. People with this condition can have other signs and symptoms common in Guillain-Barr syndrome, such as muscle weakness. Guillain-Barr syndrome occurs in people of all ages. The development of the condition usually follows a pattern. Prior to developing the condition, most people with Guillain-Barr syndrome have a bacterial or viral infection. The first phase of Guillain-Barr syndrome, during which signs and symptoms of the condition worsen, can last up to four weeks, although the peak of the illness is usually reached in one to two weeks. During the second phase, called the plateau, signs and symptoms of Guillain-Barr syndrome stabilize. This phase can last weeks or months. During the recovery phase, symptoms improve. However, some people with Guillain-Barr syndrome never fully recover and can still experience excessive tiredness (fatigue), muscle weakness, or muscle pain.",GHR,Guillain-Barr syndrome +How many people are affected by Guillain-Barr syndrome ?,"The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent of cases in Asian countries and Latin America but only 3 to 5 percent of cases in North America and Europe. Miller Fisher syndrome is also more common in Asian countries, accounting for approximately 20 percent of cases in these countries but less than 5 percent in North America and Europe.",GHR,Guillain-Barr syndrome +What are the genetic changes related to Guillain-Barr syndrome ?,"Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system, and their roles in fighting infection may contribute to the development of the condition. Most people who develop Guillain-Barr syndrome have a bacterial or viral infection prior to developing the signs and symptoms of the condition. However, only a very small percentage of people who have an infection develop Guillain-Barr syndrome. In order to fight the infection, specialized immune cells produce proteins called antibodies that recognize specific proteins or molecules on the bacteria or virus (pathogen). Some research shows that antibodies that recognize molecules on some pathogens may also recognize proteins on the body's own nerves. As a result, the immune system attacks the nerves, causing inflammation and damaging the axons and myelin, which can lead to the signs and symptoms of Guillain-Barr syndrome.",GHR,Guillain-Barr syndrome +Is Guillain-Barr syndrome inherited ?,"Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. As a result, inheriting a genetic variation linked with Guillain-Barr syndrome does not mean that a person will develop the condition.",GHR,Guillain-Barr syndrome +What are the treatments for Guillain-Barr syndrome ?,"These resources address the diagnosis or management of Guillain-Barr syndrome: - Genetic Testing Registry: Guillain-Barre syndrome, familial - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Guillain-Barr syndrome +What is (are) spinocerebellar ataxia type 2 ?,"Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to a decreased ability to make rapid eye movements (saccadic slowing). Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia). Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.",GHR,spinocerebellar ataxia type 2 +How many people are affected by spinocerebellar ataxia type 2 ?,"The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holgun province, where approximately 40 per 100,000 individuals are affected.",GHR,spinocerebellar ataxia type 2 +What are the genetic changes related to spinocerebellar ataxia type 2 ?,"Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA's genetic information). The ATXN2 gene mutations that cause SCA2 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene, but it can be repeated up to 31 times without causing any health problems. Individuals with 32 or more CAG repeats in the ATXN2 gene develop SCA2. People with 32 or 33 repeats tend to first experience signs and symptoms of SCA2 in late adulthood, while people with more than 45 repeats usually have signs and symptoms by their teens. It is unclear how the abnormally long CAG segment affects the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people with SCA2 show loss of brain cells in different parts of the brain. Over time, the loss of brain cells causes the movement problems characteristic of SCA2.",GHR,spinocerebellar ataxia type 2 +Is spinocerebellar ataxia type 2 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. Individuals who have an increase in the number of CAG repeats in the ATXN2 gene, but do not develop SCA2, are at risk of having children who will develop the disorder. As the altered ATXN2 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN2 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).",GHR,spinocerebellar ataxia type 2 +What are the treatments for spinocerebellar ataxia type 2 ?,These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinocerebellar ataxia type 2 +What is (are) Cushing disease ?,"Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. Affected individuals may get stretch marks (striae) on their thighs and abdomen and bruise easily. Individuals with Cushing disease can develop a hump on their upper back caused by abnormal deposits of fat. People with this condition can have muscle weakness, severe tiredness, and progressively thin and brittle bones that are prone to fracture (osteoporosis). They also have a weakened immune system and are at an increased risk of infections. Cushing disease can cause mood disorders such as anxiety, irritability, and depression. This condition can also affect a person's concentration and memory. People with Cushing disease have an increased chance of developing high blood pressure (hypertension) and diabetes. Women with Cushing disease may experience irregular menstruation and have excessive hair growth (hirsutism) on their face, abdomen, and legs. Men with Cushing disease may have erectile dysfunction. Children with Cushing disease typically experience slow growth.",GHR,Cushing disease +How many people are affected by Cushing disease ?,"Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males.",GHR,Cushing disease +What are the genetic changes related to Cushing disease ?,"The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. The genes involved often play a role in regulating the activity of hormones. Cushing disease is caused by an increase in the hormone cortisol, which helps maintain blood sugar levels, protects the body from stress, and stops (suppresses) inflammation. Cortisol is produced by the adrenal glands, which are small glands located at the top of each kidney. The production of cortisol is triggered by the release of a hormone called adrenocorticotropic hormone (ACTH) from the pituitary gland, located at the base of the brain. The adrenal and pituitary glands are part of the hormone-producing (endocrine) system in the body that regulates development, metabolism, mood, and many other processes. Cushing disease occurs when a noncancerous (benign) tumor called an adenoma forms in the pituitary gland, causing excessive release of ACTH and, subsequently, elevated production of cortisol. Prolonged exposure to increased cortisol levels results in the signs and symptoms of Cushing disease: changes to the amount and distribution of body fat, decreased muscle mass leading to weakness and reduced stamina, thinning skin causing stretch marks and easy bruising, thinning of the bones resulting in osteoporosis, increased blood pressure, impaired regulation of blood sugar leading to diabetes, a weakened immune system, neurological problems, irregular menstruation in women, and slow growth in children. The overactive adrenal glands that produce cortisol may also produce increased amounts of male sex hormones (androgens), leading to hirsutism in females. The effect of the excess androgens on males is unclear. Most often, Cushing disease occurs alone, but rarely, it appears as a symptom of genetic syndromes that have pituitary adenomas as a feature, such as multiple endocrine neoplasia type 1 (MEN1) or familial isolated pituitary adenoma (FIPA). Cushing disease is a subset of a larger condition called Cushing syndrome, which results when cortisol levels are increased by one of a number of possible causes. Sometimes adenomas that occur in organs or tissues other than the pituitary gland, such as adrenal gland adenomas, can also increase cortisol production, causing Cushing syndrome. Certain prescription drugs can result in an increase in cortisol production and lead to Cushing syndrome. Sometimes prolonged periods of stress or depression can cause an increase in cortisol levels; when this occurs, the condition is known as pseudo-Cushing syndrome. Not accounting for increases in cortisol due to prescription drugs, pituitary adenomas cause the vast majority of Cushing syndrome in adults and children.",GHR,Cushing disease +Is Cushing disease inherited ?,"Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Cushing disease +What are the treatments for Cushing disease ?,These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Clinical Guidelines: The Diagnosis of Cushing's Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cushing disease +"What is (are) distal hereditary motor neuropathy, type II ?","Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe. Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.",GHR,"distal hereditary motor neuropathy, type II" +"How many people are affected by distal hereditary motor neuropathy, type II ?","The prevalence of distal hereditary motor neuropathy, type II is unknown. At least 25 affected families have been identified worldwide.",GHR,"distal hereditary motor neuropathy, type II" +"What are the genetic changes related to distal hereditary motor neuropathy, type II ?","Mutations in the HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. These genes provide instructions for making proteins called heat shock protein beta-1 and heat shock protein beta-8. Heat shock proteins help protect cells under adverse conditions such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. They block signals that lead to programmed cell death. In addition, they appear to be involved in activities such as cell movement (motility), stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also appear to play a role in the tensing of muscle fibers (muscle contraction). Heat shock protein beta-1 and heat shock protein beta-8 are found in cells throughout the body and are abundant in nerve cells. In nerve cells, heat shock protein beta-1 helps to organize a network of molecular threads called neurofilaments that maintain the diameter of specialized extensions called axons. Maintaining proper axon diameter is essential for the efficient transmission of nerve impulses. The function of heat shock protein beta-8 is not well understood, but studies have shown that it interacts with heat shock protein beta-1. The HSPB1 and HSPB8 gene mutations that cause distal hereditary motor neuropathy, type II change single protein building blocks (amino acids) in the protein sequence. If either protein is altered, they may be more likely to cluster together and form clumps (aggregates). Aggregates of heat shock proteins may block the transport of substances that are essential for the proper function of nerve axons. The disruption of other cell functions in which these proteins are involved may also contribute to the signs and symptoms of distal hereditary motor neuropathy, type II.",GHR,"distal hereditary motor neuropathy, type II" +"Is distal hereditary motor neuropathy, type II inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,"distal hereditary motor neuropathy, type II" +"What are the treatments for distal hereditary motor neuropathy, type II ?","These resources address the diagnosis or management of distal hereditary motor neuropathy, type II: - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2A - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2B - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"distal hereditary motor neuropathy, type II" +What is (are) Erdheim-Chester disease ?,"Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of non-Langerhans cell histiocytosis to distinguish it from Langerhans cell histiocytosis, which involves accumulation of a specific type of histiocyte called Langerhans cells. In Erdheim-Chester disease, histiocytosis leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure. People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss. The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.",GHR,Erdheim-Chester disease +How many people are affected by Erdheim-Chester disease ?,"Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.",GHR,Erdheim-Chester disease +What are the genetic changes related to Erdheim-Chester disease ?,"More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). The BRAF gene mutation that causes Erdheim-Chester disease is somatic, which means that it occurs during a person's lifetime and is present only in certain cells. The mutation occurs in histiocytes or in immature precursor cells that will develop into histiocytes. This mutation leads to production of a BRAF protein that is abnormally active, which disrupts regulation of cell growth and division. The unregulated overproduction of histiocytes results in their accumulation in the body's tissues and organs, leading to the signs and symptoms of Erdheim-Chester disease. The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. Researchers disagree on whether Erdheim-Chester disease should be considered a form of cancer because of the unregulated accumulation of histiocytes.",GHR,Erdheim-Chester disease +Is Erdheim-Chester disease inherited ?,This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.,GHR,Erdheim-Chester disease +What are the treatments for Erdheim-Chester disease ?,These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Erdheim-Chester disease +What is (are) histidinemia ?,"Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition. The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders.",GHR,histidinemia +How many people are affected by histidinemia ?,"Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people.",GHR,histidinemia +What are the genetic changes related to histidinemia ?,"Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. These increased levels of histidine do not appear to have any negative effects on the body.",GHR,histidinemia +Is histidinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,histidinemia +What are the treatments for histidinemia ?,These resources address the diagnosis or management of histidinemia: - Genetic Testing Registry: Histidinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,histidinemia +What is (are) ALG12-congenital disorder of glycosylation ?,"ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures. Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can include folds of skin that cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, such as a small penis (micropenis) and undescended testes. People with ALG12-CDG often produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies can make it difficult for affected individuals to fight infections. Less common abnormalities seen in people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities.",GHR,ALG12-congenital disorder of glycosylation +How many people are affected by ALG12-congenital disorder of glycosylation ?,ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature.,GHR,ALG12-congenital disorder of glycosylation +What are the genetic changes related to ALG12-congenital disorder of glycosylation ?,"Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG12 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid. ALG12 gene mutations lead to the production of an abnormal enzyme with reduced activity. Without a properly functioning enzyme, mannose cannot be added to the chain efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. As a result, glycosylation is reduced. The wide variety of signs and symptoms in ALG12-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues, including the brain.",GHR,ALG12-congenital disorder of glycosylation +Is ALG12-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ALG12-congenital disorder of glycosylation +What are the treatments for ALG12-congenital disorder of glycosylation ?,These resources address the diagnosis or management of ALG12-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1G These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ALG12-congenital disorder of glycosylation +What is (are) recurrent hydatidiform mole ?,"Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is known a sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. A hydatidiform mole often causes vaginal bleeding in the first trimester of the pregnancy. In an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. In some cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a fluid-filled sac that normally surrounds the fetus). Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind (persistent mole) will continue to grow and become a cancerous tumor called an invasive mole. The invasive mole can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.",GHR,recurrent hydatidiform mole +How many people are affected by recurrent hydatidiform mole ?,"Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole.",GHR,recurrent hydatidiform mole +What are the genetic changes related to recurrent hydatidiform mole ?,"Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause. Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from, a phenomenon known as genomic imprinting. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. For a small subset of genes, however, only one of the two copies is active; for some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active. The NLRP7 and KHDC3L proteins are likely involved in imprinting multiple maternal genes in oocytes, ensuring that they will be inactive in the developing embryo; the corresponding paternal genes are active. NLRP7 or KHDC3L gene mutations result in the production of proteins with impaired function. As a result, multiple genes that contribute to a developing embryo are not imprinted properly, leading to abnormal gene activity (expression) in all pregnancies. Because many genes that would normally be inactive are instead active, embryonic development is impaired, resulting in a hydatidiform mole. The NLRP7 protein has also been found to play a role in cell growth and division (proliferation) and cell maturation (differentiation). Research suggests that the NLRP7 protein plays an additional role in immune responses by regulating the release of an immune protein called interleukin-1 beta. Normally, the immune system would recognize a hydatidiform mole as a non-growing pregnancy or foreign tissue and signal the body to remove it. Because the impaired NLRP7 protein slows interleukin-1 beta release, the body cannot trigger an immune response to the abnormal pregnancy. Instead, the hydatidiform mole remains in the body. The cause of the retention of the pregnancy in women with KHDC3L gene mutations is unclear. In some cases of recurrent hydatidiform mole, no mutations in either of these genes have been identified. In these instances, the cause of the condition is unknown. When there is only a single instance of hydatidiform mole, it is often caused by abnormal fertilization of an egg. In sporadic hydatidiform mole, the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing nucleus, or the embryo receives too much genetic information because two sperm cells fertilized one egg.",GHR,recurrent hydatidiform mole +Is recurrent hydatidiform mole inherited ?,"This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promote normal embryonic development), a hydatidiform mole will develop in each pregnancy that occurs with those egg cells.",GHR,recurrent hydatidiform mole +What are the treatments for recurrent hydatidiform mole ?,"These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform mole, recurrent, 2 - MedlinePlus Encyclopedia: Choriocarcinoma - MedlinePlus Encyclopedia: Hydatidiform Mole These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,recurrent hydatidiform mole +What is (are) antiphospholipid syndrome ?,"Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight. A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age. Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of blood clotting cells called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, heart disease, or intellectual disability. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.",GHR,antiphospholipid syndrome +How many people are affected by antiphospholipid syndrome ?,"The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages likely have this condition. Approximately 70 percent of individuals diagnosed with antiphospholipid syndrome are female.",GHR,antiphospholipid syndrome +What are the genetic changes related to antiphospholipid syndrome ?,"The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. When these antibodies attach (bind) to proteins, the proteins change shape and bind to other molecules and receptors on the surface of cells. Binding to cells, particularly immune cells, turns on (activates) the blood clotting pathway and other immune responses. The production of lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I may coincide with exposure to foreign invaders, such as viruses and bacteria, that are similar to normal human proteins. Exposure to these foreign invaders may cause the body to produce antibodies to fight the infection, but because the invaders are so similar to the body's own proteins, the antibodies also attack the human proteins. Similar triggers may occur during pregnancy when a woman's physiology, particularly her immune system, adapts to accommodate the developing fetus. These changes during pregnancy may explain the high rate of affected females. Certain genetic variations (polymorphisms) in a few genes have been found in people with antiphospholipid syndrome and may predispose individuals to produce the specific antibodies known to contribute to the formation of thromboses. However, the contribution of these genetic changes to the development of the condition is unclear. People who test positive for all three antibodies but have not had a thrombosis or recurrent miscarriages are said to be antiphospholipid carriers. These individuals are at greater risk of developing a thrombosis than is the general population.",GHR,antiphospholipid syndrome +Is antiphospholipid syndrome inherited ?,"Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome.",GHR,antiphospholipid syndrome +What are the treatments for antiphospholipid syndrome ?,These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,antiphospholipid syndrome +What is (are) Arts syndrome ?,"Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy). Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood. In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.",GHR,Arts syndrome +How many people are affected by Arts syndrome ?,Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature.,GHR,Arts syndrome +What are the genetic changes related to Arts syndrome ?,"Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 gene mutations that cause Arts syndrome replace single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The resulting enzyme is probably unstable, reducing or eliminating its ability to perform its function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system, resulting in the neurological problems characteristic of Arts syndrome. The reason for the increased risk of respiratory infections in Arts syndrome is unclear.",GHR,Arts syndrome +Is Arts syndrome inherited ?,"This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes features of the disorder; in other cases, these females do not experience any symptoms. In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.",GHR,Arts syndrome +What are the treatments for Arts syndrome ?,"These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Arts syndrome +What is (are) cap myopathy ?,"Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. Affected individuals may have feeding and swallowing difficulties in infancy. They typically have delayed development of motor skills such as sitting, crawling, standing, and walking. They may fall frequently, tire easily, and have difficulty running, climbing stairs, or jumping. In some cases, the muscles used for breathing are affected, and life-threatening breathing difficulties can occur. People with cap myopathy may have a high arch in the roof of the mouth (high-arched palate), severely drooping eyelids (ptosis), and a long face. Some affected individuals develop an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood.",GHR,cap myopathy +How many people are affected by cap myopathy ?,Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.,GHR,cap myopathy +What are the genetic changes related to cap myopathy ?,"Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. The ACTA1 gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract. The mutation in the ACTA1 gene that causes cap myopathy results in an abnormal protein that may interfere with the proper assembly of thin filaments. The cap structures in muscle cells characteristic of this disorder are composed of disorganized thin filaments. The TPM2 and TPM3 genes provide instructions for making proteins that are members of the tropomyosin protein family. Tropomyosin proteins regulate muscle contraction by attaching to actin and controlling its binding to myosin. The specific effects of TPM2 and TPM3 gene mutations are unclear, but researchers suggest they may interfere with normal actin-myosin binding between the thin and thick filaments, impairing muscle contraction and resulting in the muscle weakness that occurs in cap myopathy.",GHR,cap myopathy +Is cap myopathy inherited ?,"Cap myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,cap myopathy +What are the treatments for cap myopathy ?,These resources address the diagnosis or management of cap myopathy: - Genetic Testing Registry: TPM2-related cap myopathy - Genetic Testing Registry: cap myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cap myopathy +What is (are) Costeff syndrome ?,"Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Movement problems in people with Costeff syndrome develop in late childhood and include muscle stiffness (spasticity), impaired muscle coordination (ataxia), and involuntary jerking movements (choreiform movements). As a result of these movement difficulties, individuals with Costeff syndrome may require wheelchair assistance. While some people with Costeff syndrome have intellectual disability that ranges from mild to moderate, many people with this condition have normal intelligence. Costeff syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of the acid does not appear to influence the signs and symptoms of the condition. Costeff syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with Costeff syndrome also have high urine levels of another acid called 3-methylglutaric acid.",GHR,Costeff syndrome +How many people are affected by Costeff syndrome ?,"Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified.",GHR,Costeff syndrome +What are the genetic changes related to Costeff syndrome ?,"Mutations in the OPA3 gene cause Costeff syndrome. The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating the shape of mitochondria. OPA3 gene mutations that result in Costeff syndrome lead to a loss of OPA3 protein function. Cells without any functional OPA3 protein have abnormally shaped mitochondria. These cells likely have reduced energy production and die sooner than normal, decreasing energy availability in the body's tissues. It is unclear why the optic nerves and the parts of the brain that control movement are particularly affected.",GHR,Costeff syndrome +Is Costeff syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Costeff syndrome +What are the treatments for Costeff syndrome ?,These resources address the diagnosis or management of Costeff syndrome: - Baby's First Test - Gene Review: Gene Review: OPA3-Related 3-Methylglutaconic Aciduria - Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Costeff syndrome +What is (are) hemophilia ?,"Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury. The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.",GHR,hemophilia +How many people are affected by hemophilia ?,"The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide.",GHR,hemophilia +What are the genetic changes related to hemophilia ?,"Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss. Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The mutations that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The mutations responsible for mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins. Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown.",GHR,hemophilia +Is hemophilia inherited ?,"Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury, surgery, or tooth extraction.",GHR,hemophilia +What are the treatments for hemophilia ?,"These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Testing Registry: Hereditary factor VIII deficiency disease - Genomics Education Programme (UK): Haemophilia A - MedlinePlus Encyclopedia: Factor IX Assay - MedlinePlus Encyclopedia: Factor VIII Assay - MedlinePlus Encyclopedia: Hemophilia A - MedlinePlus Encyclopedia: Hemophilia B - National Heart, Lung, and Blood Institute: How is Hemophilia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemophilia Treated? - National Hemophilia Foundation: Hemophilia Treatment Centers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hemophilia +What is (are) retinitis pigmentosa ?,"Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind. The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).",GHR,retinitis pigmentosa +How many people are affected by retinitis pigmentosa ?,"Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.",GHR,retinitis pigmentosa +What are the genetic changes related to retinitis pigmentosa ?,"Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least 35 genes have been associated with the autosomal recessive form of the disorder. The most common of these is USH2A; mutations in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked form of the disorder. Together, mutations in the RPGR and RP2 genes account for most cases of X-linked retinitis pigmentosa. The genes associated with retinitis pigmentosa play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. The retina contains two types of photoreceptors, rods and cones. Rods are responsible for vision in low light, while cones provide vision in bright light, including color vision. Mutations in any of the genes responsible for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with retinitis pigmentosa. Rods typically break down before cones, which is why night vision impairment is usually the first sign of the disorder. Daytime vision is disrupted later, as both rods and cones are lost. Some of the genes associated with retinitis pigmentosa are also associated with other eye diseases, including a condition called cone-rod dystrophy. Cone-rod dystrophy has signs and symptoms similar to those of retinitis pigmentosa. However, cone-rod dystrophy is characterized by deterioration of the cones first, followed by the rods, so daylight and color vision are affected before night vision.",GHR,retinitis pigmentosa +Is retinitis pigmentosa inherited ?,"Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder. Retinitis pigmentosa can also have an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. This condition can also be inherited in an X-linked pattern. The genes associated with X-linked retinitis pigmentosa are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, (who have two X chromosomes), mutations usually have to occur in both copes of the gene to cause the disorder. However, at least 20 percent of females who carry only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In 10 to 40 percent of all cases of retinitis pigmentosa, only one person in a family is affected. In these families, the disorder is described as simplex. It can be difficult to determine the inheritance pattern of simplex cases because affected individuals may have no affected relatives or may be unaware of other family members with the disease. Simplex cases can also result from a new gene mutation that is not present in other family members.",GHR,retinitis pigmentosa +What are the treatments for retinitis pigmentosa ?,These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Retinitis pigmentosa - RP Fighting Blindness: Treatment of Retinitis Pigmentosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,retinitis pigmentosa +What is (are) steatocystoma multiplex ?,"Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.",GHR,steatocystoma multiplex +How many people are affected by steatocystoma multiplex ?,"Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.",GHR,steatocystoma multiplex +What are the genetic changes related to steatocystoma multiplex ?,"Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 partners with a similar protein called keratin 6b to form networks that provide strength and resilience to the skin, nails, and other tissues. The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of keratin 17, preventing it from forming strong, stable networks within cells. The defective keratin network disrupts the growth and function of cells in the skin and nails, including cells that make up the sebaceous glands. These abnormalities lead to the growth of sebum-containing cysts in people with steatocystoma multiplex. However, it is unclear why steatocystomas are typically the only feature of this disorder. Many researchers believe that steatocystoma multiplex is a variant form of a disorder called pachyonychia congenita, which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is also associated with more severe skin and nail abnormalities not usually found in people with steatocystoma multiplex. In some cases, people with steatocystoma multiplex do not have an identified mutation in the KRT17 gene. The cause of the condition in these individuals is unknown.",GHR,steatocystoma multiplex +Is steatocystoma multiplex inherited ?,"When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. In people with steatocystoma multiplex who do not have identified KRT17 gene mutations, there is usually no family history of the disorder.",GHR,steatocystoma multiplex +What are the treatments for steatocystoma multiplex ?,These resources address the diagnosis or management of steatocystoma multiplex: - Genetic Testing Registry: Steatocystoma multiplex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,steatocystoma multiplex +What is (are) LAMA2-related muscular dystrophy ?,"LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form. Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate (failure to thrive). Hypotonia also affects the muscles used for breathing, which causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections. As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy usually do not learn to walk unassisted. Speech problems may result from weakness of the facial muscles and tongue, but intelligence is usually normal. Heart problems and seizures occasionally occur in early-onset LAMA2-related muscular dystrophy. Because of the serious health problems that occur in this form of the disorder, many affected individuals do not survive past adolescence. Late-onset LAMA2-related muscular dystrophy occurs later in childhood or in adulthood. Signs and symptoms of this form of the disorder are milder than in the early-onset type and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs, and life expectancy and intelligence are usually not affected in late-onset LAMA2-related muscular dystrophy.",GHR,LAMA2-related muscular dystrophy +How many people are affected by LAMA2-related muscular dystrophy ?,"The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown.",GHR,LAMA2-related muscular dystrophy +What are the genetic changes related to LAMA2-related muscular dystrophy ?,"As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit is found in the laminin 2 protein, also known as merosin; it is also part of another laminin protein called laminin 4. Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers. Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2-related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2-related muscular dystrophy.",GHR,LAMA2-related muscular dystrophy +Is LAMA2-related muscular dystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,LAMA2-related muscular dystrophy +What are the treatments for LAMA2-related muscular dystrophy ?,These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency - Genetic Testing Registry: Merosin deficient congenital muscular dystrophy - Kennedy Krieger Institute: Center for Genetic Muscle Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,LAMA2-related muscular dystrophy +What is (are) isolated ectopia lentis ?,"Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. In a small number of people with isolated ectopia lentis, tearing of the back lining of the eye (retinal detachment) occurs, which can lead to further vision problems and possible blindness. In individuals with isolated ectopia lentis, each eye can be affected differently. In addition, the eye problems vary among affected individuals, even those within the same family. Ectopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome.",GHR,isolated ectopia lentis +How many people are affected by isolated ectopia lentis ?,"The prevalence of isolated ectopia lentis is unknown. In Denmark, an estimated 6.4 per 100,000 individuals have ectopia lentis, but a large proportion of these cases (about 75 percent) are syndromic.",GHR,isolated ectopia lentis +What are the genetic changes related to isolated ectopia lentis ?,"Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in position by these filaments. Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead to a decrease in microfibril formation or result in the formation of impaired microfibrils. Without functional microfibrils to anchor the lens in its central position at the front of the eye, the lens becomes displaced. The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.",GHR,isolated ectopia lentis +Is isolated ectopia lentis inherited ?,"When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When isolated ectopia lentis is caused by mutations in the ADAMTSL4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,isolated ectopia lentis +What are the treatments for isolated ectopia lentis ?,"These resources address the diagnosis or management of isolated ectopia lentis: - Gene Review: Gene Review: ADAMTSL4-Related Eye Disorders - Genetic Testing Registry: Ectopia lentis, isolated autosomal recessive - Genetic Testing Registry: Ectopia lentis, isolated, autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,isolated ectopia lentis +What is (are) Crigler-Najjar syndrome ?,"Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability. Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.",GHR,Crigler-Najjar syndrome +How many people are affected by Crigler-Najjar syndrome ?,Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide.,GHR,Crigler-Najjar syndrome +What are the genetic changes related to Crigler-Najjar syndrome ?,"Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. During this reaction, the enzyme transfers a compound called glucuronic acid to unconjugated bilirubin, converting it to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body. Mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome result in reduced or absent function of the bilirubin-UGT enzyme. People with CN1 have no enzyme function, while people with CN2 have less than 20 percent of normal function. The loss of bilirubin-UGT function decreases glucuronidation of unconjugated bilirubin. This toxic substance then builds up in the body, causing unconjugated hyperbilirubinemia and jaundice.",GHR,Crigler-Najjar syndrome +Is Crigler-Najjar syndrome inherited ?,"Crigler-Najjar syndrome is inherited in an autosomal recessive pattern, which means both copies of the UGT1A1 gene in each cell have mutations. A less severe condition called Gilbert syndrome can occur when one copy of the UGT1A1 gene has a mutation.",GHR,Crigler-Najjar syndrome +What are the treatments for Crigler-Najjar syndrome ?,"These resources address the diagnosis or management of Crigler-Najjar syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Genetic Testing Registry: Crigler Najjar syndrome, type 1 - Genetic Testing Registry: Crigler-Najjar syndrome - Genetic Testing Registry: Crigler-Najjar syndrome, type II These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Crigler-Najjar syndrome +What is (are) Duane-radial ray syndrome ?,"Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket. Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a long thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are known as radial ray malformations. People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and upward-turning foot (clubfoot), and fused spinal bones (vertebrae). The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions are caused by mutations in the same gene. Based on these similarities, researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms. The features of Duane-radial ray syndrome are also similar to those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.",GHR,Duane-radial ray syndrome +How many people are affected by Duane-radial ray syndrome ?,Duane-radial ray syndrome is a rare condition whose prevalence is unknown. Only a few affected families have been reported worldwide.,GHR,Duane-radial ray syndrome +What are the genetic changes related to Duane-radial ray syndrome ?,"Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. The exact function of the SALL4 protein is unclear, although it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. It is unclear how a reduction in the amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions.",GHR,Duane-radial ray syndrome +Is Duane-radial ray syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SALL4 gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Duane-radial ray syndrome +What are the treatments for Duane-radial ray syndrome ?,These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Duane-radial ray syndrome +What is (are) ornithine translocase deficiency ?,"Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine translocase deficiency varies widely in its severity and age of onset. An infant with ornithine translocase deficiency may be lacking in energy (lethargic) or refuse to eat, or have poorly controlled breathing or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Episodes of illness may coincide with the introduction of high-protein formulas or solid foods into the diet. In most affected individuals, signs and symptoms of ornithine translocase deficiency do not appear until later in life. Later-onset forms of ornithine translocase deficiency are usually less severe than the infantile form. Some people with later-onset ornithine translocase deficiency cannot tolerate high-protein foods, such as meat. Occasionally, high-protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase of ammonia may lead to episodes of vomiting, lack of energy (lethargy), problems with coordination (ataxia), confusion, or blurred vision. Complications of ornithine translocase deficiency may include developmental delay, learning disabilities, and stiffness caused by abnormal tensing of the muscles (spasticity).",GHR,ornithine translocase deficiency +How many people are affected by ornithine translocase deficiency ?,Ornithine translocase deficiency is a very rare disorder. Fewer than 100 affected individuals have been reported worldwide.,GHR,ornithine translocase deficiency +What are the genetic changes related to ornithine translocase deficiency ?,"Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The SLC25A15 gene provides instructions for making a protein called a mitochondrial ornithine transporter. This protein is needed to move a molecule called ornithine within the mitochondria (the energy-producing centers in cells). Specifically, this protein transports ornithine across the inner membrane of mitochondria to the region called the mitochondrial matrix, where it participates in the urea cycle. Mutations in the SLC25A15 gene result in a mitochondrial ornithine transporter that is unstable or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency.",GHR,ornithine translocase deficiency +Is ornithine translocase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ornithine translocase deficiency +What are the treatments for ornithine translocase deficiency ?,These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ornithine translocase deficiency +What is (are) Klippel-Trenaunay syndrome ?,"Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the trunk. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking. Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).",GHR,Klippel-Trenaunay syndrome +How many people are affected by Klippel-Trenaunay syndrome ?,"Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide.",GHR,Klippel-Trenaunay syndrome +What are the genetic changes related to Klippel-Trenaunay syndrome ?,"The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related to the overgrowth of bones and soft tissues.",GHR,Klippel-Trenaunay syndrome +Is Klippel-Trenaunay syndrome inherited ?,"Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in development and are present only in certain cells. Somatic mutations could explain why the signs and symptoms of Klippel-Trenaunay syndrome are often limited to specific areas of the body. However, it is unclear whether somatic mutations are responsible for this condition because no associated genes have been found.",GHR,Klippel-Trenaunay syndrome +What are the treatments for Klippel-Trenaunay syndrome ?,These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Klippel-Trenaunay syndrome +What is (are) Wilson disease ?,"Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems. Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.",GHR,Wilson disease +How many people are affected by Wilson disease ?,"Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.",GHR,Wilson disease +What are the genetic changes related to Wilson disease ?,"Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have mutations in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.",GHR,Wilson disease +Is Wilson disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Wilson disease +What are the treatments for Wilson disease ?,These resources address the diagnosis or management of Wilson disease: - Gene Review: Gene Review: Wilson Disease - Genetic Testing Registry: Wilson's disease - MedlinePlus Encyclopedia: Wilson's disease - National Human Genome Research Institute These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Wilson disease +What is (are) neurohypophyseal diabetes insipidus ?,"Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep. People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma. Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time. Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.",GHR,neurohypophyseal diabetes insipidus +How many people are affected by neurohypophyseal diabetes insipidus ?,"Neurohypophyseal diabetes insipidus is thought to be rare, although its exact incidence is unknown. The acquired form occurs much more frequently than the familial form.",GHR,neurohypophyseal diabetes insipidus +What are the genetic changes related to neurohypophyseal diabetes insipidus ?,"The familial form of neurohypophyseal diabetes insipidus is caused by mutations in the AVP gene. This gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance. The kidneys filter the blood to remove waste and excess fluid, which are stored in the bladder as urine. ADH controls the balance between fluid intake and urine excretion. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), the brain releases more ADH into the bloodstream. High levels of this hormone direct the kidneys to reabsorb more water and to make less urine. When fluid intake is adequate, the brain releases less ADH. Lower levels of this hormone cause the kidneys to reabsorb less water and to make more urine. Mutations in the AVP gene result in progressive damage to the brain cells where ADH is produced. These cells ultimately die, causing a shortage of ADH. Without this hormone, the kidneys do not reabsorb water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of neurohypophyseal diabetes insipidus. The acquired form of neurohypophyseal diabetes insipidus results when the areas of the brain that produce or store ADH are damaged by head injuries, brain tumors, brain surgery, certain diseases and infections, or bleeding in the brain. A loss of ADH disrupts the body's water balance, leading to excessive urine production and the other features of the disorder. In 30 to 50 percent of all cases of neurohypophyseal diabetes insipidus, the cause of the disorder is unknown. Studies suggest that some of these cases may have an autoimmune basis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. For unknown reasons, in some people with neurohypophyseal diabetes insipidus the immune system appears to damage the brain cells that normally produce ADH.",GHR,neurohypophyseal diabetes insipidus +Is neurohypophyseal diabetes insipidus inherited ?,"Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder. In a few affected families, the condition has had an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,neurohypophyseal diabetes insipidus +What are the treatments for neurohypophyseal diabetes insipidus ?,These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,neurohypophyseal diabetes insipidus +What is (are) globozoospermia ?,"Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.",GHR,globozoospermia +How many people are affected by globozoospermia ?,"Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility.",GHR,globozoospermia +What are the genetic changes related to globozoospermia ?,"Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein is involved in the development of the acrosome and elongation of the sperm head, which are integral steps in sperm cell maturation. Mutations in the DPY19L2 gene result in a loss of functional DPY19L2 protein. As a result, sperm cells have no acrosome and do not elongate properly. Without an acrosome, the abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to infertility in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics.",GHR,globozoospermia +Is globozoospermia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,globozoospermia +What are the treatments for globozoospermia ?,These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: Assisted Reproductive Technology These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,globozoospermia +What is (are) Meckel syndrome ?,"Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.",GHR,Meckel syndrome +How many people are affected by Meckel syndrome ?,"Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry.",GHR,Meckel syndrome +What are the genetic changes related to Meckel syndrome ?,"Meckel syndrome can be caused by mutations in one of at least eight genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including brain cells and certain cells in the kidneys and liver. Mutations in the genes associated with Meckel syndrome lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during early development. Although researchers believe that defective cilia are responsible for most of the features of this disorder, it remains unclear how they lead to specific developmental abnormalities of the brain, kidneys, and other parts of the body. Mutations in the eight genes known to be associated with Meckel syndrome account for about 75 percent of all cases of the condition. In the remaining cases, the genetic cause is unknown. Mutations in several other genes have been identified in people with features similar to those of Meckel syndrome, although it is unclear whether these individuals actually have Meckel syndrome or a related disorder (often described as a ""Meckel-like phenotype"").",GHR,Meckel syndrome +Is Meckel syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Meckel syndrome +What are the treatments for Meckel syndrome ?,"These resources address the diagnosis or management of Meckel syndrome: - Genetic Testing Registry: Meckel syndrome type 1 - Genetic Testing Registry: Meckel syndrome type 2 - Genetic Testing Registry: Meckel syndrome type 3 - Genetic Testing Registry: Meckel syndrome type 4 - Genetic Testing Registry: Meckel syndrome type 5 - Genetic Testing Registry: Meckel syndrome type 6 - Genetic Testing Registry: Meckel syndrome type 7 - Genetic Testing Registry: Meckel syndrome type 8 - Genetic Testing Registry: Meckel syndrome, type 10 - Genetic Testing Registry: Meckel syndrome, type 9 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Meckel syndrome +What is (are) juvenile polyposis syndrome ?,"Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition ""juvenile"" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract. Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome. Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood. Most juvenile polyps are benign, but there is a chance that polyps can become cancerous (malignant). It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract. The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.",GHR,juvenile polyposis syndrome +How many people are affected by juvenile polyposis syndrome ?,"Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide.",GHR,juvenile polyposis syndrome +What are the genetic changes related to juvenile polyposis syndrome ?,"Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A and SMAD4 proteins work together to help regulate the activity of particular genes and the growth and division (proliferation) of cells. Mutations in the BMPR1A gene or the SMAD4 gene disrupt cell signaling and interfere with their roles in regulating gene activity and cell proliferation. This lack of regulation causes cells to grow and divide in an uncontrolled way, which can lead to polyp formation.",GHR,juvenile polyposis syndrome +Is juvenile polyposis syndrome inherited ?,"Juvenile polyposis syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 75 percent of cases, an affected person inherits the mutation from one affected parent. The remaining 25 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,juvenile polyposis syndrome +What are the treatments for juvenile polyposis syndrome ?,These resources address the diagnosis or management of juvenile polyposis syndrome: - Gene Review: Gene Review: Juvenile Polyposis Syndrome - Genetic Testing Registry: Juvenile polyposis syndrome - MedlinePlus Encyclopedia: Colorectal Polyps These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,juvenile polyposis syndrome +What is (are) Fraser syndrome ?,"Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood. Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow. Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. In most people with this feature, the skin between the middle three fingers and toes are fused, but the other digits can also be involved. Other abnormalities of the hands and feet can occur in people with Fraser syndrome. Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. Some affected individuals have external genitalia that do not appear clearly female or male (ambiguous genitalia). The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). Affected individuals can have other kidney problems or abnormalities of the bladder and other parts of the urinary tract. A variety of other signs and symptoms can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).",GHR,Fraser syndrome +How many people are affected by Fraser syndrome ?,"Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition occurs in approximately 1 in 10,000 fetuses that do not survive to birth.",GHR,Fraser syndrome +What are the genetic changes related to Fraser syndrome ?,"Mutations in the FRAS1, FREM2, or GRIP1 gene can cause Fraser syndrome. FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. FREM2 and GRIP1 gene mutations are each found in a small percentage of cases. The FRAS1 and FREM2 proteins (produced from the FRAS1 and FREM2 genes, respectively) are part of a group of proteins called the FRAS/FREM complex. The GRIP1 protein (produced from the GRIP1 gene) ensures that FRAS1 and FREM2 get to the correct location of the cell to form the FRAS/FREM complex. The FRAS/FREM complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. This complex is particularly important during development before birth. One of the complex's roles is to anchor the top layer of skin by connecting its basement membrane to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of other organs and tissues, including the kidneys, although the mechanism is unclear. Mutations in any of these genes prevent formation of the FRAS/FREM complex. Lack of this complex in the basement membrane of the skin leads to detachment of the top layer of skin, causing blisters to form during development. These blisters likely impair the proper formation of certain structures before birth, leading to cryptophthalmos and cutaneous syndactyly. It is unknown how lack of the FRAS/FREM complex leads to kidney and genital abnormalities and other problems in Fraser syndrome.",GHR,Fraser syndrome +Is Fraser syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Fraser syndrome +What are the treatments for Fraser syndrome ?,These resources address the diagnosis or management of Fraser syndrome: - Genetic Testing Registry: Cryptophthalmos syndrome - University of Arizona College of Medicine: Cryptophthalmos These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Fraser syndrome +What is (are) bradyopsia ?,"Bradyopsia is a rare condition that affects vision. The term ""bradyopsia"" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.",GHR,bradyopsia +How many people are affected by bradyopsia ?,Bradyopsia appears to be rare. Only a few affected individuals worldwide have been described in the medical literature.,GHR,bradyopsia +What are the genetic changes related to bradyopsia ?,"Bradyopsia can be caused by mutations in the RGS9 gene or in the RGS9BP gene (which is also known as R9AP). These genes provide instructions for making proteins that are necessary for normal vision. The proteins are found in light-detecting cells in the eye called photoreceptors. When light enters the eye, it stimulates specialized pigments in these cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. Once photoreceptors have been stimulated by light, they must return to their resting state before they can be stimulated again. The RGS9 and RGS9BP proteins play an essential role in returning photoreceptors to their resting state quickly after light exposure. Mutations in either the RGS9 or RGS9BP gene prevent photoreceptors from recovering quickly after responding to light. Normally they return to their resting state in a fraction of a second, but in people with mutations in one of these genes, it can take ten seconds or longer. During that time, the photoreceptors cannot respond to light. This delay causes temporary blindness in response to changing light conditions and interferes with seeing small objects when they are in motion. In some people with bradyopsia, no mutations in the RGS9 or RGS9BP gene have been found. The cause of the condition in these individuals is unknown.",GHR,bradyopsia +Is bradyopsia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,bradyopsia +What are the treatments for bradyopsia ?,These resources address the diagnosis or management of bradyopsia: - Children's Hospital of Pittsburgh: Electroretinogram - Genetic Testing Registry: Prolonged electroretinal response suppression - MedlinePlus Encyclopedia: Electroretinography - Prevent Blindness: Living Well with Low Vision These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,bradyopsia +What is (are) severe congenital neutropenia ?,"Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood. Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence. Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.",GHR,severe congenital neutropenia +How many people are affected by severe congenital neutropenia ?,"The incidence of severe congenital neutropenia is estimated to be 1 in 200,000 individuals.",GHR,severe congenital neutropenia +What are the genetic changes related to severe congenital neutropenia ?,"Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders. Gene mutations that cause severe congenital neutropenia lead to the production of neutrophils that die off quickly or do not function properly. Some gene mutations result in unstable proteins that build up in neutrophils, leading to cell death. Other gene mutations result in proteins that impair the maturation or function of neutrophils, preventing these cells from responding appropriately to immune signals. About half of all cases of severe congenital neutropenia are caused by mutations in the ELANE gene. Another 15 percent are caused by mutations in the HAX1 gene. The other genes each account for only a small percentage of all cases of this condition. In about one-third of people with severe congenital neutropenia, the cause of the disorder is unknown.",GHR,severe congenital neutropenia +Is severe congenital neutropenia inherited ?,"Most cases of severe congenital neutropenia are classified as sporadic and occur in people with no apparent history of the disorder in their family. Some of these cases are associated with changes in specific genes; however in some cases the cause of the disorder is unknown. Many cases of severe congenital neutropenia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Less often, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In rare cases, severe congenital neutropenia is inherited in an X-linked recessive pattern. In these cases, the gene that causes the condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,severe congenital neutropenia +What are the treatments for severe congenital neutropenia ?,"These resources address the diagnosis or management of severe congenital neutropenia: - Cincinnati Children's Hospital: The Severe Congenital Neutropenia International Registry - Gene Review: Gene Review: ELANE-Related Neutropenia - Gene Review: Gene Review: G6PC3 Deficiency - Genetic Testing Registry: Severe congenital neutropenia - Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant - Genetic Testing Registry: Severe congenital neutropenia 4, autosomal recessive - Genetic Testing Registry: Severe congenital neutropenia X-linked - Genetic Testing Registry: Severe congenital neutropenia autosomal dominant - MedlinePlus Encyclopedia: Neutropenia--infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,severe congenital neutropenia +What is (are) Cohen syndrome ?,"Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. Characteristic facial features include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open-mouth appearance. The features of Cohen syndrome vary widely among affected individuals. Additional signs and symptoms in some individuals with this disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically develops around the torso, with the arms and legs remaining slender. Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers.",GHR,Cohen syndrome +How many people are affected by Cohen syndrome ?,"The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.",GHR,Cohen syndrome +What are the genetic changes related to Cohen syndrome ?,"Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells from producing a functional VPS13B protein. It is unclear how loss of functional VPS13B protein leads to the signs and symptoms of Cohen syndrome.",GHR,Cohen syndrome +Is Cohen syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Cohen syndrome +What are the treatments for Cohen syndrome ?,These resources address the diagnosis or management of Cohen syndrome: - Gene Review: Gene Review: Cohen Syndrome - Genetic Testing Registry: Cohen syndrome - MedlinePlus Encyclopedia: Hypotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Cohen syndrome +What is (are) Barth syndrome ?,"Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males. In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within the first months of life. Over time, the heart muscle becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some areas of the heart muscle, which contributes to the cardiomyopathy. This condition is called endocardial fibroelastosis; it results in thickening of the muscle and impairs its ability to pump blood. In people with Barth syndrome, the heart problems can lead to heart failure. In rare cases, the cardiomyopathy gets better over time and affected individuals eventually have no symptoms of heart disease. In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the center of the body (proximal muscles), is usually noticeable from birth and causes low muscle tone (hypotonia). The muscle weakness often causes delay of motor skills such as crawling and walking. Additionally, affected individuals tend to experience extreme tiredness (fatigue) during strenuous physical activity. Most males with Barth syndrome have neutropenia. The levels of white blood cells can be consistently low (persistent), can vary from normal to low (intermittent), or can cycle between regular episodes of normal and low (cyclical). Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, so affected individuals have an increased risk of recurrent infections. Newborns with Barth syndrome are often smaller than normal, and their growth continues to be slow throughout life. Some boys with this condition experience a growth spurt in puberty and are of average height as adults, but many men with Barth syndrome continue to have short stature in adulthood. Males with Barth syndrome often have distinctive facial features including prominent cheeks. Affected individuals typically have normal intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles. Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. The amount of the acid does not appear to influence the signs and symptoms of the condition. Barth syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). Even though most features of Barth syndrome are present at birth or in infancy, affected individuals may not experience health problems until later in life. The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. The severity of signs and symptoms among affected individuals is also highly variable. Males with Barth syndrome have a reduced life expectancy. Many affected children die of heart failure or infection in infancy or early childhood, but those who live into adulthood can survive into their late forties.",GHR,Barth syndrome +How many people are affected by Barth syndrome ?,"Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.",GHR,Barth syndrome +What are the genetic changes related to Barth syndrome ?,"Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. Once altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells. TAZ gene mutations result in the production of tafazzin proteins with little or no function. As a result, tafazzin cannot alter cardiolipin. A lack of functional cardiolipin impairs normal mitochondrial shape and functions. Tissues with high energy demands, such as the heart and skeletal muscles, are most susceptible to cell death due to reduced energy production in mitochondria. Additionally, abnormally shaped mitochondria are found in affected white blood cells, which could affect their ability to grow (proliferate) and mature (differentiate), leading to neutropenia. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.",GHR,Barth syndrome +Is Barth syndrome inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,Barth syndrome +What are the treatments for Barth syndrome ?,These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center: Neutrophil Disorders - MedlinePlus Encyclopedia: Neutropenia--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Barth syndrome +What is (are) nonsyndromic paraganglioma ?,"Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime. Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the ""fight-or-flight"" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.",GHR,nonsyndromic paraganglioma +How many people are affected by nonsyndromic paraganglioma ?,"It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma.",GHR,nonsyndromic paraganglioma +What are the genetic changes related to nonsyndromic paraganglioma ?,"The VHL, RET, SDHB, and SDHD genes can be mutated in both syndromic and nonsyndromic forms of paraganglioma and pheochromocytoma. Mutations in at least three additional genes, TMEM127, SDHA, and KIF1B, have been identified in people with the nonsyndromic form of these conditions. Gene mutations increase the risk of developing paraganglioma or pheochromocytoma by affecting control of cell growth and division. Mutations in the VHL, SDHA, SDHB, and SDHD genes increase the risk of developing nonsyndromic paraganglioma or pheochromocytoma. The protein produced from the VHL gene helps break down other, unneeded proteins, including a protein called HIF that stimulates cell division and blood vessel formation under certain cellular conditions. The proteins produced from the SDHA, SHDB, and SDHD genes are each pieces (subunits) of an enzyme that is important for energy production in the cell. This enzyme also plays a role in the breakdown of the HIF protein. Mutations in the VHL, SDHA, SDHB, and SDHD genes stabilize the HIF protein, causing it to build up in cells. Excess HIF protein stimulates cells to divide and triggers the production of blood vessels when they are not needed. Rapid and uncontrolled cell division, along with the formation of new blood vessels, can lead to the development of tumors. Mutations in the RET gene have been found in nonsyndromic pheochromocytoma in addition to a pheochromocytoma-predisposing syndrome. The protein produced from the RET gene is involved in signaling within cells that can stimulate cell division or maturation. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in the adrenal glands. Mutations in the TMEM127 gene have been identified most commonly in people with nonsyndromic pheochromocytoma and are rarely seen in people with other paraganglioma. The TMEM127 protein normally controls a signaling pathway that induces cell growth and survival. Studies suggest that mutations in the TMEM127 gene lead to abnormal activation of cell growth, which may cause tumor formation. Mutations in the KIF1B gene have been reported in nonsyndromic pheochromocytoma. Studies suggest that these mutations impair the function of the KIF1B protein, which normally triggers cells to self-destruct in a process called apoptosis. When apoptosis is impaired, cells grow and divide too quickly or in an uncontrolled way, potentially leading to tumor formation. Many people with nonsyndromic paraganglioma or pheochromocytoma do not have a mutation in any of the genes associated with the conditions. It is likely that other, unidentified genes also predispose to development of paraganglioma or pheochromocytoma.",GHR,nonsyndromic paraganglioma +Is nonsyndromic paraganglioma inherited ?,"Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itself. Not all people with this condition have a mutation in the gene, and not all people with a gene mutation will develop the disorder. Most cases of nonsyndromic paraganglioma and pheochromocytoma are considered sporadic, which means the tumors occur in people with no history of the disorder in their family.",GHR,nonsyndromic paraganglioma +What are the treatments for nonsyndromic paraganglioma ?,These resources address the diagnosis or management of nonsyndromic paraganglioma: - Genetic Testing Registry: Pheochromocytoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,nonsyndromic paraganglioma +What is (are) hereditary leiomyomatosis and renal cell cancer ?,"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause ""goosebumps"". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful. Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population. Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. The average age at which people with HLRCC are diagnosed with kidney cancer is in their forties. This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).",GHR,hereditary leiomyomatosis and renal cell cancer +How many people are affected by hereditary leiomyomatosis and renal cell cancer ?,HLRCC has been reported in approximately 100 families worldwide. Its prevalence is unknown.,GHR,hereditary leiomyomatosis and renal cell cancer +What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ?,"Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division. FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.",GHR,hereditary leiomyomatosis and renal cell cancer +Is hereditary leiomyomatosis and renal cell cancer inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary leiomyomatosis and renal cell cancer +What are the treatments for hereditary leiomyomatosis and renal cell cancer ?,These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell Carcinoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary leiomyomatosis and renal cell cancer +What is (are) factor V deficiency ?,"Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.",GHR,factor V deficiency +How many people are affected by factor V deficiency ?,"Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries.",GHR,factor V deficiency +What are the genetic changes related to factor V deficiency ?,"Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. F5 gene mutations that cause factor V deficiency prevent the production of functional coagulation factor V or severely reduce the amount of the protein in the bloodstream. People with this condition typically have less than 10 percent of normal levels of coagulation factor V in their blood; the most severely affected individuals have less than 1 percent. A reduced amount of functional coagulation factor V prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. Very rarely, a form of factor V deficiency is caused by abnormal antibodies that recognize coagulation factor V. Antibodies normally attach (bind) to specific foreign particles and germs, marking them for destruction, but the antibodies in this form of factor V deficiency attack a normal human protein, leading to its inactivation. These cases are called acquired factor V deficiency and usually occur in individuals who have been treated with substances that stimulate the production of anti-factor V antibodies, such as bovine thrombin used during surgical procedures. There is no known genetic cause for this form of the condition.",GHR,factor V deficiency +Is factor V deficiency inherited ?,"Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no related health effects.",GHR,factor V deficiency +What are the treatments for factor V deficiency ?,These resources address the diagnosis or management of factor V deficiency: - Genetic Testing Registry: Factor V deficiency - MedlinePlus Encyclopedia: Factor V Deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,factor V deficiency +What is (are) glucose-6-phosphate dehydrogenase deficiency ?,"Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms.",GHR,glucose-6-phosphate dehydrogenase deficiency +How many people are affected by glucose-6-phosphate dehydrogenase deficiency ?,"An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African American males in the United States.",GHR,glucose-6-phosphate dehydrogenase deficiency +What are the genetic changes related to glucose-6-phosphate dehydrogenase deficiency ?,"Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species. Reactive oxygen species are byproducts of normal cellular functions. Chemical reactions involving glucose-6-phosphate dehydrogenase produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. If mutations in the G6PD gene reduce the amount of glucose-6-phosphate dehydrogenase or alter its structure, this enzyme can no longer play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or ingesting fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. A reduction in the amount of red blood cells causes the signs and symptoms of hemolytic anemia. Researchers believe that carriers of a G6PD mutation may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. Glucose-6-phosphate dehydrogenase deficiency occurs most frequently in areas of the world where malaria is common.",GHR,glucose-6-phosphate dehydrogenase deficiency +Is glucose-6-phosphate dehydrogenase deficiency inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,glucose-6-phosphate dehydrogenase deficiency +What are the treatments for glucose-6-phosphate dehydrogenase deficiency ?,These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase deficiency - MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase test - MedlinePlus Encyclopedia: Hemolytic anemia - MedlinePlus Encyclopedia: Newborn jaundice These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,glucose-6-phosphate dehydrogenase deficiency +What is (are) Liddle syndrome ?,"Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.",GHR,Liddle syndrome +How many people are affected by Liddle syndrome ?,"Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.",GHR,Liddle syndrome +What are the genetic changes related to Liddle syndrome ?,"Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a piece (subunit) of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, where the channels transport sodium into cells. In the kidney, ENaC channels open in response to signals that sodium levels in the blood are too low, which allows sodium to flow into cells. From the kidney cells, this sodium is returned to the bloodstream (a process called reabsorption) rather than being removed from the body in urine. Mutations in the SCNN1B or SCNN1G gene change the structure of the respective ENaC subunit. The changes alter a region of the subunit that is involved in signaling for its breakdown (degradation) when it is no longer needed. As a result of the mutations, the subunit proteins are not degraded, and more ENaC channels remain at the cell surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium (followed by water), which leads to hypertension. Reabsorption of sodium into the blood is linked with removal of potassium from the blood, so excess sodium reabsorption leads to hypokalemia.",GHR,Liddle syndrome +Is Liddle syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Liddle syndrome +What are the treatments for Liddle syndrome ?,These resources address the diagnosis or management of Liddle syndrome: - Genetic Testing Registry: Pseudoprimary hyperaldosteronism - Merck Manual for Health Care Professionals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Liddle syndrome +What is (are) 3-beta-hydroxysteroid dehydrogenase deficiency ?,"3-beta ()-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3-HSD deficiency lack many of the hormones that are made in these glands. 3-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation. There are three types of 3-HSD deficiency: the salt-wasting, non-salt-wasting, and non-classic types. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. People with the non-salt-wasting type of 3-HSD deficiency produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting. In males with any type of 3-HSD deficiency, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female (ambiguous genitalia). The severity of the genital abnormality does not consistently depend on the type of the condition. Because of the hormone dysfunction in the testes, males with 3-HSD deficiency are frequently unable to have biological children (infertile). Females with 3-HSD deficiency may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth (hirsutism). Females with 3-HSD deficiency have difficulty conceiving a child (impaired fertility).",GHR,3-beta-hydroxysteroid dehydrogenase deficiency +How many people are affected by 3-beta-hydroxysteroid dehydrogenase deficiency ?,The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported.,GHR,3-beta-hydroxysteroid dehydrogenase deficiency +What are the genetic changes related to 3-beta-hydroxysteroid dehydrogenase deficiency ?,"Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction. 3-HSD deficiency is caused by a deficiency (shortage) of the 3-HSD enzyme. The amount of functional 3-HSD enzyme determines whether a person will have the salt-wasting or non-salt-wasting type of the disorder. Individuals with the salt-wasting type have HSD3B2 gene mutations that result in the production of very little or no enzyme. People with the non-salt-wasting type of this condition have HSD3B2 gene mutations that allow the production of some functional enzyme, although in reduced amounts.",GHR,3-beta-hydroxysteroid dehydrogenase deficiency +Is 3-beta-hydroxysteroid dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-beta-hydroxysteroid dehydrogenase deficiency +What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ?,These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency: - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency - Great Ormond Street Hospital for Children: Cortisol Deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia - MedlinePlus Health Topic: Assisted Reproductive Technology - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-beta-hydroxysteroid dehydrogenase deficiency +What is (are) CHOPS syndrome ?,"CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name ""CHOPS"" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities. Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth. Most affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber. People with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae). Other features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).",GHR,CHOPS syndrome +How many people are affected by CHOPS syndrome ?,CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few affected individuals have been described in the medical literature.,GHR,CHOPS syndrome +What are the genetic changes related to CHOPS syndrome ?,"CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth. Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.",GHR,CHOPS syndrome +Is CHOPS syndrome inherited ?,"CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder in their family.",GHR,CHOPS syndrome +What are the treatments for CHOPS syndrome ?,These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,CHOPS syndrome +What is (are) Bjrnstad syndrome ?,"Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means ""twisted hair,"" so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Bjrnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty. People with Bjrnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.",GHR,Bjrnstad syndrome +How many people are affected by Bjrnstad syndrome ?,"Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.",GHR,Bjrnstad syndrome +What are the genetic changes related to Bjrnstad syndrome ?,"Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in this process. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues. BCS1L gene mutations involved in Bjrnstad syndrome alter the BCS1L protein and impair its ability to aid in complex III formation. The resulting decrease in complex III activity reduces oxidative phosphorylation. For unknown reasons, overall production of reactive oxygen species is increased, although production by complex III is reduced. Researchers believe that tissues in the inner ears and hair follicles are particularly sensitive to reactive oxygen species and are damaged by the abnormal amount of these molecules, leading to the characteristic features of Bjrnstad syndrome.",GHR,Bjrnstad syndrome +Is Bjrnstad syndrome inherited ?,"Bjrnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Bjrnstad syndrome +What are the treatments for Bjrnstad syndrome ?,These resources address the diagnosis or management of Bjrnstad syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis - Genetic Testing Registry: Pili torti-deafness syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Bjrnstad syndrome +What is (are) cytochrome P450 oxidoreductase deficiency ?,"Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood. The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain. People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female (ambiguous genitalia), and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities. The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of ambiguous genitalia or other genital abnormalities, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder. Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery.",GHR,cytochrome P450 oxidoreductase deficiency +How many people are affected by cytochrome P450 oxidoreductase deficiency ?,"The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide. Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. Because the signs and symptoms can be difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency may never come to medical attention.",GHR,cytochrome P450 oxidoreductase deficiency +What are the genetic changes related to cytochrome P450 oxidoreductase deficiency ?,"Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body's response to stress; and aldosterone, which helps regulate the body's salt and water balance. Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. In a woman who is pregnant with an affected fetus, abnormal levels of sex hormones in the fetus may cause her to have mild, temporary signs and symptoms of cytochrome P450 oxidoreductase deficiency. Cytochrome P450 oxidoreductase is also needed for the production of cholesterol. This substance has many essential functions both before and after birth, including roles in the production of steroid hormones and in the formation and growth of bones. Mutations in the POR gene can disrupt the production of cholesterol, which likely impairs normal bone formation in the severe form of cytochrome P450 oxidoreductase deficiency. Studies suggest that a molecule called retinoic acid also plays a role in the skeletal abnormalities found in severe cases. The breakdown of retinoic acid requires cytochrome P450 oxidoreductase; if a shortage of cytochrome P450 oxidoreductase prevents retinoic acid from being broken down, the resulting excess of that molecule can stimulate the abnormal growth and fusion of bones. The skeletal abnormalities found in the severe form of this disorder can also result from mutations in another gene, FGFR2. Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the POR gene or in the FGFR2 gene. Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene mutations, reserving the name Antley-Bixler syndrome for cases caused by FGFR2 gene mutations.",GHR,cytochrome P450 oxidoreductase deficiency +Is cytochrome P450 oxidoreductase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,cytochrome P450 oxidoreductase deficiency +What are the treatments for cytochrome P450 oxidoreductase deficiency ?,These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency: - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,cytochrome P450 oxidoreductase deficiency +What is (are) oral-facial-digital syndrome ?,"Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.",GHR,oral-facial-digital syndrome +How many people are affected by oral-facial-digital syndrome ?,"Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families.",GHR,oral-facial-digital syndrome +What are the genetic changes related to oral-facial-digital syndrome ?,"Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I. The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play an important role in the early development of many parts of the body, including the brain, face, limbs, and kidneys. Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. It is unclear how a shortage of this protein causes the specific features of oral-facial-digital syndrome type I. Researchers are actively searching for the genetic changes responsible for the other forms of oral-facial-digital syndrome.",GHR,oral-facial-digital syndrome +Is oral-facial-digital syndrome inherited ?,"Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of OFD1 protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of oral-facial-digital syndrome type I. In males (who have only one X chromosome), mutations result in a total loss of the OFD1 protein. A lack of this protein is usually lethal very early in development, so very few males are born with oral-facial-digital syndrome type I. Affected males usually die before birth, although a few have lived into early infancy. Most of the other forms of oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a causative gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,oral-facial-digital syndrome +What are the treatments for oral-facial-digital syndrome ?,These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Genetic Testing Registry: Orofacial-digital syndrome III - Genetic Testing Registry: Orofacial-digital syndrome IV - Genetic Testing Registry: Orofaciodigital syndrome 10 - Genetic Testing Registry: Orofaciodigital syndrome 11 - Genetic Testing Registry: Orofaciodigital syndrome 5 - Genetic Testing Registry: Orofaciodigital syndrome 6 - Genetic Testing Registry: Orofaciodigital syndrome 7 - Genetic Testing Registry: Orofaciodigital syndrome 8 - Genetic Testing Registry: Orofaciodigital syndrome 9 - Genetic Testing Registry: Orofaciodigital syndromes - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Polycystic Kidney Disease - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,oral-facial-digital syndrome +"What is (are) 46,XX testicular disorder of sex development ?","46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity. At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile).",GHR,"46,XX testicular disorder of sex development" +"How many people are affected by 46,XX testicular disorder of sex development ?","Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder.",GHR,"46,XX testicular disorder of sex development" +"What are the genetic changes related to 46,XX testicular disorder of sex development ?","People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY). The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. The sex-determining region Y protein causes a fetus to develop as a male. In about 80 percent of individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation causes the SRY gene to be misplaced, almost always onto an X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular disorder of sex development. About 20 percent of people with 46,XX testicular disorder of sex development do not have the SRY gene. This form of the condition is called SRY-negative 46,XX testicular disorder of sex development. The cause of the disorder in these individuals is unknown. They are more likely to have ambiguous genitalia than are people with the SRY-positive form.",GHR,"46,XX testicular disorder of sex development" +"Is 46,XX testicular disorder of sex development inherited ?","SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile. In rare cases, the SRY gene may be misplaced onto a chromosome other than the X chromosome. This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular disorder of sex development. In another very rare situation, a man may carry the SRY gene on both the X and Y chromosome; a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome. The inheritance pattern of SRY-negative 46,XX testicular disorder of sex development is unknown. A few families with unaffected parents have had more than one child with the condition, suggesting the possibility of autosomal recessive inheritance. Autosomal recessive means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,"46,XX testicular disorder of sex development" +"What are the treatments for 46,XX testicular disorder of sex development ?","These resources address the diagnosis or management of 46,XX testicular disorder of sex development: - Gene Review: Gene Review: Nonsyndromic 46,XX Testicular Disorders of Sex Development - Genetic Testing Registry: 46,XX sex reversal, type 1 - Genetic Testing Registry: 46,XX testicular disorder of sex development - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,"46,XX testicular disorder of sex development" +What is (are) ring chromosome 20 syndrome ?,"Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes. Most people with ring chromosome 20 syndrome also have some degree of intellectual disability and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Additional features of this condition can include slow growth and short stature, a small head (microcephaly), and subtle differences in facial features. Major birth defects are rarely seen with ring chromosome 20 syndrome.",GHR,ring chromosome 20 syndrome +How many people are affected by ring chromosome 20 syndrome ?,"Ring chromosome 20 syndrome appears to be a rare condition, although its prevalence is unknown. More than 60 affected individuals have been reported in the medical literature.",GHR,ring chromosome 20 syndrome +What are the genetic changes related to ring chromosome 20 syndrome ?,"Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. It is not well understood how the ring chromosome causes the signs and symptoms of this syndrome. In some affected individuals, genes near the ends of chromosome 20 are deleted when the ring chromosome forms. Researchers suspect that the loss of these genes may be responsible for epilepsy and other health problems. However, other affected individuals do not have gene deletions associated with the ring chromosome. In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy (replicate) itself normally during cell division. Researchers are still working to determine the precise relationship between the ring chromosome 20 and the characteristic features of the syndrome.",GHR,ring chromosome 20 syndrome +Is ring chromosome 20 syndrome inherited ?,"Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most affected individuals have no history of the disorder in their families. However, at least one family has been reported in which a ring chromosome 20 was passed from a mother to her children.",GHR,ring chromosome 20 syndrome +What are the treatments for ring chromosome 20 syndrome ?,These resources address the diagnosis or management of ring chromosome 20 syndrome: - Genetic Testing Registry: Ring chromosome 20 syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ring chromosome 20 syndrome +What is (are) Rothmund-Thomson syndrome ?,"Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma. Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Some affected children develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder have skeletal abnormalities including absent or malformed bones, fused bones, and low bone mineral density (osteopenia or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations. People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence. Several types of skin cancer, including basal cell carcinoma and squamous cell carcinoma, are also more common in people with this disorder. The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.",GHR,Rothmund-Thomson syndrome +How many people are affected by Rothmund-Thomson syndrome ?,Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.,GHR,Rothmund-Thomson syndrome +What are the genetic changes related to Rothmund-Thomson syndrome ?,"Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome. In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to the RECQL4 gene. In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes arise because of the overall instability of an affected person's genetic information; they do not cause the disorder.",GHR,Rothmund-Thomson syndrome +Is Rothmund-Thomson syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Rothmund-Thomson syndrome +What are the treatments for Rothmund-Thomson syndrome ?,These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia: Osteosarcoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Rothmund-Thomson syndrome +What is (are) spinocerebellar ataxia type 3 ?,"Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day. Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving. Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.",GHR,spinocerebellar ataxia type 3 +How many people are affected by spinocerebellar ataxia type 3 ?,"The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare.",GHR,spinocerebellar ataxia type 3 +What are the genetic changes related to spinocerebellar ataxia type 3 ?,"Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is attached (bound) to unneeded proteins, which tags them to be broken down (degraded) within cells. Ataxin-3 removes the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription). The ATXN3 gene mutations that cause SCA3 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 12 to 43 times within the gene. Most people have fewer than 31 CAG repeats. In people with SCA3, the CAG segment is repeated more than 50 times. People who have 44 to 52 CAG repeats are described as having an ""intermediate repeat."" These individuals may or may not develop SCA3. People with 75 or fewer repeats tend to first experience signs and symptoms of SCA3 in mid-adulthood, while people with around 80 repeats usually have signs and symptoms by their teens. An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-3 enzyme that folds into the wrong 3-dimensional shape. This nonfunctional ataxin-3 enzyme cannot remove ubiquitin from proteins that are no longer needed. As a result, these unwanted proteins, along with ubiquitin and ataxin-3, cluster together to form clumps (aggregates) within the nucleus of the cells. It is unclear how these aggregates affect cell function, because they are found in healthy cells as well as those that die. Nerve cells (neurons) and other types of brain cells are most affected by mutations in the ATXN3 gene. SCA3 is associated with cell death in the part of the brain that is connected to the spinal cord (the brainstem), the part of the brain involved in coordinating movements (the cerebellum), and other areas of the brain. This condition is also associated with the death of neurons in the spinal cord. Over time, the loss of cells in the brain and spinal cord cause the signs and symptoms characteristic of SCA3.",GHR,spinocerebellar ataxia type 3 +Is spinocerebellar ataxia type 3 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN3 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance). In rare cases, individuals have been reported with expanded CAG repeats on both copies of the ATXN3 gene in each cell. These people have more severe signs and symptoms than people with only one mutation, and features of the condition appear in childhood.",GHR,spinocerebellar ataxia type 3 +What are the treatments for spinocerebellar ataxia type 3 ?,These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinocerebellar ataxia type 3 +What is (are) osteoporosis-pseudoglioma syndrome ?,"Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes). Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma. Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.",GHR,osteoporosis-pseudoglioma syndrome +How many people are affected by osteoporosis-pseudoglioma syndrome ?,Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people.,GHR,osteoporosis-pseudoglioma syndrome +What are the genetic changes related to osteoporosis-pseudoglioma syndrome ?,"Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina. LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.",GHR,osteoporosis-pseudoglioma syndrome +Is osteoporosis-pseudoglioma syndrome inherited ?,"Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some carriers may have decreased bone mineral density.",GHR,osteoporosis-pseudoglioma syndrome +What are the treatments for osteoporosis-pseudoglioma syndrome ?,These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,osteoporosis-pseudoglioma syndrome +What is (are) congenital hyperinsulinism ?,"Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.",GHR,congenital hyperinsulinism +How many people are affected by congenital hyperinsulinism ?,"Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns.",GHR,congenital hyperinsulinism +What are the genetic changes related to congenital hyperinsulinism ?,"Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the pancreas. Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy. Gene mutations that cause congenital hyperinsulinism lead to over-secretion of insulin from beta cells. Normally, insulin is secreted in response to the amount of glucose in the bloodstream: when glucose levels rise, so does insulin secretion. However, in people with congenital hyperinsulinism, insulin is secreted from beta cells regardless of the amount of glucose present in the blood. This excessive secretion of insulin results in glucose being rapidly removed from the bloodstream and passed into tissues such as muscle, liver, and fat. A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. Insufficient blood glucose also deprives the brain of its primary source of fuel. Mutations in at least nine genes have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this condition in approximately 40 percent of affected individuals. Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. Mutations in each of the other genes associated with this condition account for only a small percentage of cases. In approximately half of people with congenital hyperinsulinism, the cause is unknown.",GHR,congenital hyperinsulinism +Is congenital hyperinsulinism inherited ?,"Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin. Most often, the diffuse form of congenital hyperinsulinism is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance of the focal form of congenital hyperinsulinism is more complex. For most genes, both copies are turned on (active) in all cells, but for a small subset of genes, one of the two copies is turned off (inactive). Most people with the focal form of this condition inherit one copy of the mutated, inactive gene from their unaffected father. During embryonic development, a mutation occurs in the other, active copy of the gene. This second mutation is found within only some cells in the pancreas. As a result, some pancreatic beta cells have abnormal insulin secretion, while other beta cells function normally.",GHR,congenital hyperinsulinism +What are the treatments for congenital hyperinsulinism ?,"These resources address the diagnosis or management of congenital hyperinsulinism: - Gene Review: Gene Review: Familial Hyperinsulinism - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia - Genetic Testing Registry: Familial hyperinsulinism - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 3 - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 5 - Genetic Testing Registry: Hyperinsulinemic hypoglycemia, familial, 4 - Genetic Testing Registry: Hyperinsulinism-hyperammonemia syndrome - Genetic Testing Registry: Islet cell hyperplasia - Genetic Testing Registry: Persistent hyperinsulinemic hypoglycemia of infancy - MedlinePlus Encyclopedia: Neonatal Hypoglycemia - The Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital hyperinsulinism +What is (are) Miller syndrome ?,"Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems. People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine. Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract.",GHR,Miller syndrome +How many people are affected by Miller syndrome ?,Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature.,GHR,Miller syndrome +What are the genetic changes related to Miller syndrome ?,"Mutations in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Specifically, dihydroorotate dehydrogenase converts a molecule called dihydroorotate to a molecule called orotic acid. In subsequent steps, other enzymes modify orotic acid to produce pyrimidines. Miller syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. It remains unclear exactly how DHODH gene mutations lead to abnormal development of the pharyngeal arches in people with Miller syndrome. Development of the arms and legs is also affected by Miller syndrome. Each limb starts out as a small mound of tissue called a limb bud, which grows outward. Many different proteins are involved in the normal shaping (patterning) of each limb. Once the overall pattern of a limb is formed, detailed shaping can take place. For example, to create individual fingers and toes, certain cells self-destruct (undergo apoptosis) to remove the webbing between each digit. The role dihydroorotate dehydrogenase plays in limb development is not known. It is also unknown how mutations in the DHODH gene cause bone abnormalities in the arms and legs of people with Miller syndrome.",GHR,Miller syndrome +Is Miller syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Miller syndrome +What are the treatments for Miller syndrome ?,These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Miller syndrome +What is (are) congenital fibrosis of the extraocular muscles ?,"Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision. Researchers have identified at least four forms of congenital fibrosis of the extraocular muscles, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome. The specific problems with eye movement vary among the types. Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.",GHR,congenital fibrosis of the extraocular muscles +How many people are affected by congenital fibrosis of the extraocular muscles ?,"CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has been diagnosed in only one large Turkish family.",GHR,congenital fibrosis of the extraocular muscles +What are the genetic changes related to congenital fibrosis of the extraocular muscles ?,"CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves in the head and face. In particular, this protein plays a critical role in the development of a particular branch of cranial nerve III, which emerges from the brain and controls muscles that raise the eyes and eyelids. Mutations in the KIF21A gene likely alter the protein's ability to transport materials within nerve cells, preventing the normal development of these cranial nerves and the extraocular muscles they control. Abnormal function of the extraocular muscles leads to restricted eye movement and related problems with vision. Mutations in the PHOX2A gene cause CFEOM2. This gene provides instructions for making a protein that is found in the developing nervous system. Studies suggest that the PHOX2A protein plays a critical role in the development of cranial nerves III and IV, which are necessary for normal eye movement. Mutations likely eliminate the function of the PHOX2A protein, which prevents the normal development of these cranial nerves and the extraocular muscles they control. In most cases of CFEOM3, the genetic cause of the condition is unknown. Studies suggest that a gene associated with CFEOM3 may be located near one end of chromosome 16. The gene associated with Tukel syndrome has not been identified either, although researchers think that it may be located near one end of chromosome 21.",GHR,congenital fibrosis of the extraocular muscles +Is congenital fibrosis of the extraocular muscles inherited ?,"The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Tukel syndrome also appears to have an autosomal recessive pattern of inheritance, although the genetic change responsible for this disorder is unknown.",GHR,congenital fibrosis of the extraocular muscles +What are the treatments for congenital fibrosis of the extraocular muscles ?,"These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 2 - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement - Genetic Testing Registry: Tukel syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing - MedlinePlus Encyclopedia: Strabismus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,congenital fibrosis of the extraocular muscles +What is (are) polycystic kidney disease ?,"Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.",GHR,polycystic kidney disease +How many people are affected by polycystic kidney disease ?,"Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.",GHR,polycystic kidney disease +What are the genetic changes related to polycystic kidney disease ?,"Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose functions are not fully understood. Researchers believe that they are involved in transmitting chemical signals from outside the cell to the cell's nucleus. The two proteins work together to promote normal kidney development, organization, and function. Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation. Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. This gene provides instructions for making a protein whose exact function is unknown; however, the protein likely transmits chemical signals from outside the cell to the cell nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease. Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease. This form of the disorder occurs most often in people with other types of kidney disease who have been treated for several years with hemodialysis (a procedure that filters waste products from the blood).",GHR,polycystic kidney disease +Is polycystic kidney disease inherited ?,"Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family. Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified. Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.",GHR,polycystic kidney disease +What are the treatments for polycystic kidney disease ?,"These resources address the diagnosis or management of polycystic kidney disease: - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Dominant - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Recessive - Genetic Testing Registry: Polycystic kidney disease 2 - Genetic Testing Registry: Polycystic kidney disease 3, autosomal dominant - Genetic Testing Registry: Polycystic kidney disease, adult type - Genetic Testing Registry: Polycystic kidney disease, infantile type - MedlinePlus Encyclopedia: Polycystic kidney disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,polycystic kidney disease +What is (are) Sjgren-Larsson syndrome ?,"Sjgren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age. Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected. People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjgren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjgren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjgren-Larsson syndrome have seizures. Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjgren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk. Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjgren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).",GHR,Sjgren-Larsson syndrome +How many people are affected by Sjgren-Larsson syndrome ?,"Sjgren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence of this condition is unknown.",GHR,Sjgren-Larsson syndrome +What are the genetic changes related to Sjgren-Larsson syndrome ?,"Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids. ALDH3A2 gene mutations disrupt the normal process of fatty acid oxidation. Most mutations result in the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that cannot be broken down build up in cells. Within skin cells, excess fat accumulation can interfere with the formation of membranes that act as protective barriers to control water loss. As a result of the loss of these protective barriers, the skin has difficulty maintaining its water balance, resulting in dry, scaly skin. In the brain, the consequences of excess fat accumulation are unclear, but it is likely that an abundance of fat disrupts the formation of myelin. Myelin is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A lack of myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye problems is unclear, but it is also likely related to a disruption in the breakdown of fats.",GHR,Sjgren-Larsson syndrome +Is Sjgren-Larsson syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Sjgren-Larsson syndrome +What are the treatments for Sjgren-Larsson syndrome ?,These resources address the diagnosis or management of Sjgren-Larsson syndrome: - Genetic Testing Registry: Sjgren-Larsson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Sjgren-Larsson syndrome +What is (are) myoclonic epilepsy myopathy sensory ataxia ?,"Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE). The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).",GHR,myoclonic epilepsy myopathy sensory ataxia +How many people are affected by myoclonic epilepsy myopathy sensory ataxia ?,The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown.,GHR,myoclonic epilepsy myopathy sensory ataxia +What are the genetic changes related to myoclonic epilepsy myopathy sensory ataxia ?,"MEMSA is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol ""reads"" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of MEMSA.",GHR,myoclonic epilepsy myopathy sensory ataxia +Is myoclonic epilepsy myopathy sensory ataxia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,myoclonic epilepsy myopathy sensory ataxia +What are the treatments for myoclonic epilepsy myopathy sensory ataxia ?,These resources address the diagnosis or management of MEMSA: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Myoclonic epilepsy myopathy sensory ataxia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,myoclonic epilepsy myopathy sensory ataxia +What is (are) porphyria ?,"Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as ""acute"" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms. The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer. Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.",GHR,porphyria +How many people are affected by porphyria ?,"The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder.",GHR,porphyria +What are the genetic changes related to porphyria ?,"Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body can produce. As a result, compounds called porphyrins and porphyrin precursors, which are formed during the process of heme production, can build up abnormally in the liver and other organs. When these substances accumulate in the skin and interact with sunlight, they cause the cutaneous forms of porphyria. The acute forms of the disease occur when porphyrins and porphyrin precursors build up in and damage the nervous system. One type of porphyria, porphyria cutanea tarda, results from both genetic and nongenetic factors. About 20 percent of cases are related to mutations in the UROD gene. The remaining cases are not associated with UROD gene mutations and are classified as sporadic. Many factors contribute to the development of porphyria cutanea tarda. These include an increased amount of iron in the liver, alcohol consumption, smoking, hepatitis C or HIV infection, or certain hormones. Mutations in the HFE gene (which cause an iron overload disorder called hemochromatosis) are also associated with porphyria cutanea tarda. Other, as-yet-unidentified genetic factors may also play a role in this form of porphyria.",GHR,porphyria +Is porphyria inherited ?,"Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant porphyrias include acute intermittent porphyria, most cases of erythropoietic protoporphyria, hereditary coproporphyria, and variegate porphyria. Although the gene mutations associated with some cases of porphyria cutanea tarda also have an autosomal dominant inheritance pattern, most people with this form of porphyria do not have an inherited gene mutation. Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Porphyrias with an autosomal recessive pattern of inheritance include ALAD deficiency porphyria, congenital erythropoietic porphyria, and some cases of erythropoietic protoporphyria. When erythropoietic protoporphyria is caused by mutations in the ALAS2 gene, it has an X-linked dominant pattern of inheritance. The ALAS2 gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may be sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. Males may experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Mutations in the UROD gene are related to both porphyria cutanea tarda and hepatoerythropoietic porphyria. Individuals who inherit one altered copy of the UROD gene are at increased risk for porphyria cutanea tarda. (Multiple genetic and nongenetic factors contribute to this condition.) People who inherit two altered copies of the UROD gene in each cell develop hepatoerythropoietic porphyria.",GHR,porphyria +What are the treatments for porphyria ?,"These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphyria - Gene Review: Gene Review: Porphyria Cutanea Tarda, Type II - Gene Review: Gene Review: Variegate Porphyria - Gene Review: Gene Review: X-Linked Protoporphyria - Genetic Testing Registry: Acute intermittent porphyria - Genetic Testing Registry: Congenital erythropoietic porphyria - Genetic Testing Registry: Erythropoietic protoporphyria - Genetic Testing Registry: Familial porphyria cutanea tarda - Genetic Testing Registry: Hereditary coproporphyria - Genetic Testing Registry: Porphyria - Genetic Testing Registry: Protoporphyria, erythropoietic, X-linked - Genetic Testing Registry: Variegate porphyria - MedlinePlus Encyclopedia: Porphyria - MedlinePlus Encyclopedia: Porphyria cutanea tarda on the hands - MedlinePlus Encyclopedia: Porphyrins - Blood - MedlinePlus Encyclopedia: Porphyrins - Urine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,porphyria +What is (are) distal myopathy 2 ?,"Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult. Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).",GHR,distal myopathy 2 +How many people are affected by distal myopathy 2 ?,The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature.,GHR,distal myopathy 2 +What are the genetic changes related to distal myopathy 2 ?,"A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions. The function of the matrin 3 protein is unknown. This protein can attach to (bind) RNA, which is a chemical cousin of DNA. Some studies indicate that matrin 3 binds and stabilizes a type of RNA called messenger RNA (mRNA), which provides the genetic blueprint for proteins. Matrin 3 may also bind certain abnormal RNAs that might lead to nonfunctional or harmful proteins, thereby blocking the formation of such proteins. Other studies suggest that the matrin 3 protein may be involved in cell survival. The MATR3 gene mutation identified in people with distal myopathy 2 changes a single protein building block (amino acid) in the matrin 3 protein. The effect of this mutation on the function of the protein is unknown, although one study suggests that the mutation may change the location of the protein in the nucleus. Researchers are working to determine how this gene mutation leads to the signs and symptoms of distal myopathy 2.",GHR,distal myopathy 2 +Is distal myopathy 2 inherited ?,"Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder.",GHR,distal myopathy 2 +What are the treatments for distal myopathy 2 ?,"These resources address the diagnosis or management of distal myopathy 2: - Genetic Testing Registry: Myopathy, distal, 2 - MedlinePlus Encyclopedia: Muscular Dystrophy - National Institute of Neurological Disorders and Stroke: Muscular Dystrophy: Hope Through Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,distal myopathy 2 +What is (are) pantothenate kinase-associated neurodegeneration ?,"Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression. Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems. A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.",GHR,pantothenate kinase-associated neurodegeneration +How many people are affected by pantothenate kinase-associated neurodegeneration ?,The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.,GHR,pantothenate kinase-associated neurodegeneration +What are the genetic changes related to pantothenate kinase-associated neurodegeneration ?,"Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. Found in all living cells, coenzyme A is essential for the body's production of energy from carbohydrates, fats, and some protein building blocks (amino acids). Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.",GHR,pantothenate kinase-associated neurodegeneration +Is pantothenate kinase-associated neurodegeneration inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,pantothenate kinase-associated neurodegeneration +What are the treatments for pantothenate kinase-associated neurodegeneration ?,"These resources address the diagnosis or management of pantothenate kinase-associated neurodegeneration: - Gene Review: Gene Review: Pantothenate Kinase-Associated Neurodegeneration - Genetic Testing Registry: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration - MedlinePlus Encyclopedia: Hallervorden-Spatz Disease - MedlinePlus Encyclopedia: MRI These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,pantothenate kinase-associated neurodegeneration +What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,"17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias). During puberty, people with this condition develop some secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. The penis and scrotum (the sac of skin that holds the testes) grow larger during this period. In addition to these changes typical of adolescent boys, some affected males may also experience breast enlargement (gynecomastia). Men with this disorder are generally unable to father children (infertile). Children with 17-beta hydroxysteroid dehydrogenase 3 deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.",GHR,17-beta hydroxysteroid dehydrogenase 3 deficiency +How many people are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,"17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. Researchers have estimated that this condition occurs in approximately 1 in 147,000 newborns. It is more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people.",GHR,17-beta hydroxysteroid dehydrogenase 3 deficiency +What are the genetic changes related to 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,"Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a precursor hormone called androstenedione. Mutations in the HSD17B3 gene result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with little or no activity, reducing testosterone production. A shortage of testosterone affects the development of the reproductive tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency. At puberty, conversion of androstenedione to testosterone increases in various tissues of the body through processes involving other enzymes. The additional testosterone results in the development of male secondary sex characteristics in adolescents, including those with 17-beta dehydrogenase 3 deficiency. A portion of the androstenedione is also converted to the female sex hormone estrogen. Since impairment of the conversion to testosterone in this disorder results in excess androstenedione in the body, a corresponding excess of estrogen may be produced, leading to breast enlargement in some affected individuals.",GHR,17-beta hydroxysteroid dehydrogenase 3 deficiency +Is 17-beta hydroxysteroid dehydrogenase 3 deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder.",GHR,17-beta hydroxysteroid dehydrogenase 3 deficiency +What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ?,These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency: - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,17-beta hydroxysteroid dehydrogenase 3 deficiency +What is (are) Lowe syndrome ?,"Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking. Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).",GHR,Lowe syndrome +How many people are affected by Lowe syndrome ?,"Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people.",GHR,Lowe syndrome +What are the genetic changes related to Lowe syndrome ?,"Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues.",GHR,Lowe syndrome +Is Lowe syndrome inherited ?,"This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family. Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. Most female carriers, however, have changes in the lens of the eye that can be observed with a thorough eye examination. These changes typically do not impair vision.",GHR,Lowe syndrome +What are the treatments for Lowe syndrome ?,These resources address the diagnosis or management of Lowe syndrome: - Gene Review: Gene Review: Lowe Syndrome - Genetic Testing Registry: Lowe syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Fanconi Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Lowe syndrome +What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ?,"3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year. Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,3-hydroxyacyl-CoA dehydrogenase deficiency +How many people are affected by 3-hydroxyacyl-CoA dehydrogenase deficiency ?,The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide.,GHR,3-hydroxyacyl-CoA dehydrogenase deficiency +What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ?,"Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. The 3-hydroxyacyl-CoA dehydrogenase enzyme is required for a step that metabolizes groups of fats called medium-chain fatty acids and short-chain fatty acids. Mutations in the HADH gene lead to a shortage of 3-hydroxyacyl-CoA dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of 3-hydroxyacyl-CoA dehydrogenase deficiency, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids that are not broken down can build up in tissues and damage the liver, heart, and muscles, causing serious complications. Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders.",GHR,3-hydroxyacyl-CoA dehydrogenase deficiency +Is 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-hydroxyacyl-CoA dehydrogenase deficiency +What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ?,These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-hydroxyacyl-CoA dehydrogenase deficiency +What is (are) COG5-congenital disorder of glycosylation ?,"COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures).",GHR,COG5-congenital disorder of glycosylation +How many people are affected by COG5-congenital disorder of glycosylation ?,COG5-CDG is a very rare disorder; fewer than 10 cases have been described in the medical literature.,GHR,COG5-congenital disorder of glycosylation +What are the genetic changes related to COG5-congenital disorder of glycosylation ?,"COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions. The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.",GHR,COG5-congenital disorder of glycosylation +Is COG5-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,COG5-congenital disorder of glycosylation +What are the treatments for COG5-congenital disorder of glycosylation ?,These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,COG5-congenital disorder of glycosylation +What is (are) Chediak-Higashi syndrome ?,"Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening. Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Many people with Chediak-Higashi syndrome have problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, Chediak-Higashi syndrome can also affect the nervous system, causing weakness, clumsiness, difficulty with walking, and seizures. If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase. This severe phase of the disease is thought to be triggered by a viral infection. In the accelerated phase, white blood cells (which normally help fight infection) divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood. A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. People with the adult form of the disorder have less noticeable changes in pigmentation and are less likely to have recurrent, severe infections. They do, however, have a significant risk of progressive neurological problems such as tremors, difficulty with movement and balance (ataxia), reduced sensation and weakness in the arms and legs (peripheral neuropathy), and a decline in intellectual functioning.",GHR,Chediak-Higashi syndrome +How many people are affected by Chediak-Higashi syndrome ?,Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide.,GHR,Chediak-Higashi syndrome +What are the genetic changes related to Chediak-Higashi syndrome ?,"Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures. Lysosomes act as recycling centers within cells. They use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Mutations in the LYST gene impair the normal function of the lysosomal trafficking regulator protein, which disrupts the size, structure, and function of lysosomes and related structures in cells throughout the body. In many cells, the lysosomes are abnormally large and interfere with normal cell functions. For example, enlarged lysosomes in certain immune system cells prevent these cells from responding appropriately to bacteria and other foreign invaders. As a result, the malfunctioning immune system cannot protect the body from infections. In pigment cells called melanocytes, cellular structures called melanosomes (which are related to lysosomes) are abnormally large. Melanosomes produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation. Researchers believe that abnormal lysosome-like structures inside blood cells called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. Similarly, abnormal lysosomes in nerve cells probably cause the neurological problems associated with this disease.",GHR,Chediak-Higashi syndrome +Is Chediak-Higashi syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Chediak-Higashi syndrome +What are the treatments for Chediak-Higashi syndrome ?,These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IPOPI): Treatments for Primary Immunodeficiencies: A Guide for Patients and Their Families - MedlinePlus Encyclopedia: Chediak-Higashi syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Chediak-Higashi syndrome +What is (are) hereditary hyperekplexia ?,"Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping. Other signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy). The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. Some individuals with this condition have a low tolerance for crowded places and loud noises. Some affected people have persistent limb movements during sleep. Affected individuals who have epilepsy have the disorder throughout their lives.",GHR,hereditary hyperekplexia +How many people are affected by hereditary hyperekplexia ?,The exact prevalence of hereditary hyperekplexia is unknown. This condition has been identified in more than 70 families worldwide.,GHR,hereditary hyperekplexia +What are the genetic changes related to hereditary hyperekplexia ?,"At least five genes are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). They play a role in how neurons respond to a molecule called glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that transmits signals in the nervous system. Gene mutations that cause hereditary hyperekplexia disrupt normal cell signaling in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Approximately 80 percent of cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. The GLRA1 gene provides instructions for making one part, the alpha ()1 subunit, of the glycine receptor protein. GLRA1 gene mutations lead to the production of a receptor that cannot properly respond to glycine. As a result, glycine is less able to transmit signals in the spinal cord and brainstem. Mutations in the other four genes account for a small percentage of all cases of hereditary hyperekplexia. A disruption in cell signaling caused by mutations in the five genes associated with hereditary hyperekplexia is thought to cause the abnormal muscle movements, exaggerated startle reaction, and other symptoms characteristic of this disorder.",GHR,hereditary hyperekplexia +Is hereditary hyperekplexia inherited ?,"Hereditary hyperekplexia has different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Hereditary hyperekplexia can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder. Rarely, hereditary hyperekplexia is inherited in an X-linked pattern. In these cases, the gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,hereditary hyperekplexia +What are the treatments for hereditary hyperekplexia ?,These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary hyperekplexia +What is (are) ornithine transcarbamylase deficiency ?,"Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamylase deficiency often becomes evident in the first few days of life. An infant with ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. In some affected individuals, signs and symptoms of ornithine transcarbamylase may be less severe, and may not appear until later in life.",GHR,ornithine transcarbamylase deficiency +How many people are affected by ornithine transcarbamylase deficiency ?,"Ornithine transcarbamylase deficiency is believed to occur in approximately 1 in every 80,000 people.",GHR,ornithine transcarbamylase deficiency +What are the genetic changes related to ornithine transcarbamylase deficiency ?,"Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In ornithine transcarbamylase deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so ornithine transcarbamylase deficiency causes neurological problems as well as eventual damage to the liver.",GHR,ornithine transcarbamylase deficiency +Is ornithine transcarbamylase deficiency inherited ?,"Ornithine transcarbamylase deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of ornithine transcarbamylase deficiency.",GHR,ornithine transcarbamylase deficiency +What are the treatments for ornithine transcarbamylase deficiency ?,These resources address the diagnosis or management of ornithine transcarbamylase deficiency: - Baby's First Test - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Ornithine carbamoyltransferase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ornithine transcarbamylase deficiency +What is (are) hypermethioninemia ?,"Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.",GHR,hypermethioninemia +How many people are affected by hypermethioninemia ?,"Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.",GHR,hypermethioninemia +What are the genetic changes related to hypermethioninemia ?,"Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes. The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine, or AdoHcy. The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine. A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia.",GHR,hypermethioninemia +Is hypermethioninemia inherited ?,"Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition.",GHR,hypermethioninemia +What are the treatments for hypermethioninemia ?,These resources address the diagnosis or management of hypermethioninemia: - Baby's First Test - Genetic Testing Registry: Glycine N-methyltransferase deficiency - Genetic Testing Registry: Hepatic methionine adenosyltransferase deficiency - Genetic Testing Registry: Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hypermethioninemia +What is (are) renal tubular dysgenesis ?,"Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria). Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs. Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanels). As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.",GHR,renal tubular dysgenesis +How many people are affected by renal tubular dysgenesis ?,"Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.",GHR,renal tubular dysgenesis +What are the genetic changes related to renal tubular dysgenesis ?,"Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. The renin-angiotensin system consists of several proteins that are involved in a series of steps to produce a protein called angiotensin II. In the first step, the renin protein (produced from the REN gene) converts a protein called angiotensinogen (produced from the AGT gene) to angiotensin I. In the next step, angiotensin-converting enzyme (produced from the ACE gene) converts angiotensin I to angiotensin II. Angiotensin II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating chemical signaling. By binding to the AT1 receptor, angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure, which delivers oxygen to the developing tissues during fetal growth, is required for normal development of the kidneys (particularly of the proximal tubules) and other tissues. Mutations in the ACE, AGT, AGTR1, or REN gene impair the production or function of angiotensin II, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the fetal tissues do not get enough oxygen during development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis. Hypoperfusion also causes the skull abnormalities found in individuals with this condition. Medications that block the activity of the angiotensin-converting enzyme or the AT1 receptor are used to treat high blood pressure. Because these drugs impair the renin-angiotensin system, they can cause an acquired (non-inherited) form of renal tubular dysgenesis in fetuses of pregnant women who take them. Acquired renal tubular dysgenesis can also result from other conditions that cause renal hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome.",GHR,renal tubular dysgenesis +Is renal tubular dysgenesis inherited ?,"Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,renal tubular dysgenesis +What are the treatments for renal tubular dysgenesis ?,These resources address the diagnosis or management of renal tubular dysgenesis: - Genetic Testing Registry: Renal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,renal tubular dysgenesis +What is (are) argininosuccinic aciduria ?,"Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.",GHR,argininosuccinic aciduria +How many people are affected by argininosuccinic aciduria ?,"Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.",GHR,argininosuccinic aciduria +What are the genetic changes related to argininosuccinic aciduria ?,"Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.",GHR,argininosuccinic aciduria +Is argininosuccinic aciduria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,argininosuccinic aciduria +What are the treatments for argininosuccinic aciduria ?,These resources address the diagnosis or management of argininosuccinic aciduria: - Baby's First Test - Gene Review: Gene Review: Argininosuccinate Lyase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Argininosuccinate lyase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,argininosuccinic aciduria +What is (are) multiminicore disease ?,"Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. The most common form, called the classic form, causes muscle weakness beginning in infancy or early childhood. This weakness is most noticeable in muscles of the trunk and neck (axial muscles) and is less severe in the arm and leg muscles. Muscle weakness causes affected infants to appear ""floppy"" (hypotonic) and can delay the development of motor skills such as sitting, standing, and walking. The disease causes muscles of the ribcage and spine to stiffen. When combined with weakness of the muscles needed for breathing, this stiffness leads to severe or life-threatening respiratory problems. Almost all children with multiminicore disease develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens over time. Other forms of multiminicore disease have different patterns of signs and symptoms. They are less common than the classic form, together accounting for about 25 percent of all cases. The atypical forms of the condition tend to be milder and cause few or no problems with breathing. The moderate form with hand involvement causes muscle weakness and looseness of the joints, particularly in the arms and hands. Another form of multiminicore disease, known as the antenatal form with arthrogryposis, is characterized by stiff, rigid joints throughout the body (arthrogryposis), distinctive facial features, and other birth defects. Paralysis of the eye muscles (external ophthalmoplegia) is a primary feature of another atypical form of multiminicore disease. This form of the condition also causes general muscle weakness and feeding difficulties that appear in the first year of life. Many people with multiminicore disease also have an increased risk of a developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Multiminicore disease gets its name from small, disorganized areas called minicores, which are found in muscle fibers of many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of minicores can help doctors diagnose multiminicore disease, it is unclear how they are related to muscle weakness and the other features of this condition.",GHR,multiminicore disease +How many people are affected by multiminicore disease ?,"Multiminicore disease is thought to be a rare disorder, although its incidence is unknown.",GHR,multiminicore disease +What are the genetic changes related to multiminicore disease ?,"Mutations in the RYR1 and SEPN1 genes cause multiminicore disease. The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may play a role in the formation of muscle tissue before birth. It may also be important for normal muscle function after birth. It is unclear, however, how mutations in the SEPN1 gene lead to muscle weakness and the other features of multiminicore disease. Atypical forms of multiminicore disease often result from mutations in the RYR1 gene. RYR1 mutations are also associated with an increased risk of malignant hyperthermia. This gene provides instructions for making a protein called ryanodine receptor 1, which plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. In response to certain signals, the ryanodine receptor 1 protein forms a channel that releases stored calcium ions within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract. Mutations in the RYR1 gene change the structure and function of the ryanodine receptor 1 protein. Some mutations may lead to problems with regulation of the RYR1 channel, while other mutations appear to change the shape of the channel in such a way that calcium ions cannot flow through properly. A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease. In some affected families, the genetic cause of the disorder has not been found. Mutations in genes other than SEPN1 and RYR1 may underlie the condition in these families.",GHR,multiminicore disease +Is multiminicore disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,multiminicore disease +What are the treatments for multiminicore disease ?,"These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: Multiminicore Disease - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,multiminicore disease +What is (are) spinal muscular atrophy with respiratory distress type 1 ?,"Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood. Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).",GHR,spinal muscular atrophy with respiratory distress type 1 +How many people are affected by spinal muscular atrophy with respiratory distress type 1 ?,"SMARD1 appears to be a rare condition, but its prevalence is unknown. More than 60 cases have been reported in the scientific literature.",GHR,spinal muscular atrophy with respiratory distress type 1 +What are the genetic changes related to spinal muscular atrophy with respiratory distress type 1 ?,"Mutations in the IGHMBP2 gene cause SMARD1. The IGHMBP2 gene provides instructions for making a protein involved in copying (replicating) DNA; producing RNA, a chemical cousin of DNA; and producing proteins. IGHMBP2 gene mutations that cause SMARD1 lead to the production of a protein with reduced ability to aid in DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Although the mechanism is unknown, altered IGHMBP2 proteins contribute to the damage of these neurons and their death over time. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1. Research suggests that the amount of functional protein that is produced from the mutated IGHMBP2 gene may play a role in the severity of SMARD1. Individuals who have some functional protein are more likely to develop signs and symptoms later in childhood and retain a greater level of muscle function.",GHR,spinal muscular atrophy with respiratory distress type 1 +Is spinal muscular atrophy with respiratory distress type 1 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,spinal muscular atrophy with respiratory distress type 1 +What are the treatments for spinal muscular atrophy with respiratory distress type 1 ?,These resources address the diagnosis or management of SMARD1: - Genetic Testing Registry: Spinal muscular atrophy with respiratory distress 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,spinal muscular atrophy with respiratory distress type 1 +What is (are) rhizomelic chondrodysplasia punctata ?,"Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy. Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood. Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.",GHR,rhizomelic chondrodysplasia punctata +How many people are affected by rhizomelic chondrodysplasia punctata ?,"Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3.",GHR,rhizomelic chondrodysplasia punctata +What are the genetic changes related to rhizomelic chondrodysplasia punctata ?,"Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3. The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata.",GHR,rhizomelic chondrodysplasia punctata +Is rhizomelic chondrodysplasia punctata inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,rhizomelic chondrodysplasia punctata +What are the treatments for rhizomelic chondrodysplasia punctata ?,These resources address the diagnosis or management of rhizomelic chondrodysplasia punctata: - Gene Review: Gene Review: Rhizomelic Chondrodysplasia Punctata Type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,rhizomelic chondrodysplasia punctata +What is (are) GLUT1 deficiency syndrome ?,"GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting). About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form. Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.",GHR,GLUT1 deficiency syndrome +How many people are affected by GLUT1 deficiency syndrome ?,"GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.",GHR,GLUT1 deficiency syndrome +What are the genetic changes related to GLUT1 deficiency syndrome ?,"GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel. In the brain, the GLUT1 protein is involved in moving glucose, which is the brain's main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels (capillaries) and the surrounding brain tissue; it protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons). SLC2A1 gene mutations reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function.",GHR,GLUT1 deficiency syndrome +Is GLUT1 deficiency syndrome inherited ?,"This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from an affected parent. In a small number of families, GLUT1 deficiency syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,GLUT1 deficiency syndrome +What are the treatments for GLUT1 deficiency syndrome ?,These resources address the diagnosis or management of GLUT1 deficiency syndrome: - G1D Registry - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome - The Glucose Transporter Type 1 Deficiency Syndrome Research Consortium (G1DRC) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,GLUT1 deficiency syndrome +What is (are) permanent neonatal diabetes mellitus ?,"Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive). In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy. A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.",GHR,permanent neonatal diabetes mellitus +How many people are affected by permanent neonatal diabetes mellitus ?,"About 1 in 400,000 infants are diagnosed with diabetes mellitus in the first few months of life. However, in about half of these babies the condition is transient and goes away on its own by age 18 months. The remainder are considered to have permanent neonatal diabetes mellitus.",GHR,permanent neonatal diabetes mellitus +What are the genetic changes related to permanent neonatal diabetes mellitus ?,"Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene. K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels. Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control. Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control. Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified.",GHR,permanent neonatal diabetes mellitus +Is permanent neonatal diabetes mellitus inherited ?,"Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of these cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. In the remaining cases, an affected person inherits the mutation from one affected parent. When permanent neonatal diabetes mellitus is caused by mutations in the ABCC8 gene, it may be inherited in either an autosomal dominant or autosomal recessive pattern. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less commonly the condition is caused by mutations in other genes, and in these cases it is also inherited in an autosomal recessive pattern.",GHR,permanent neonatal diabetes mellitus +What are the treatments for permanent neonatal diabetes mellitus ?,"These resources address the diagnosis or management of permanent neonatal diabetes mellitus: - Gene Review: Gene Review: Permanent Neonatal Diabetes Mellitus - Genetic Testing Registry: Pancreatic agenesis, congenital - Genetic Testing Registry: Permanent neonatal diabetes mellitus - University of Chicago Kovler Diabetes Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,permanent neonatal diabetes mellitus +What is (are) familial cylindromatosis ?,"Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles. Individuals with familial cylindromatosis occasionally develop other types of tumors, including growths called spiradenomas and trichoepitheliomas. Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair follicles. The tumors associated with familial cylindromatosis are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with familial cylindromatosis typically begin developing tumors in adolescence or early adulthood. The tumors are most often found in hairy regions of the body, with approximately 90 percent occurring on the head and neck. They grow larger and increase in number over time. In severely affected individuals, multiple tumors on the scalp may combine into a large, turban-like growth. Large growths frequently develop open sores (ulcers) and are prone to infections. The tumors may also get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with familial cylindromatosis are often more severely affected than males.",GHR,familial cylindromatosis +How many people are affected by familial cylindromatosis ?,Familial cylindromatosis is a rare disorder; its prevalence is unknown.,GHR,familial cylindromatosis +What are the genetic changes related to familial cylindromatosis ?,"Familial cylindromatosis is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with familial cylindromatosis are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with familial cylindromatosis, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors. Some researchers consider familial cylindromatosis and two related conditions called multiple familial trichoepithelioma and Brooke-Spiegler syndrome, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders.",GHR,familial cylindromatosis +Is familial cylindromatosis inherited ?,"Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.",GHR,familial cylindromatosis +What are the treatments for familial cylindromatosis ?,"These resources address the diagnosis or management of familial cylindromatosis: - Genetic Testing Registry: Cylindromatosis, familial These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,familial cylindromatosis +What is (are) 3-methylglutaconyl-CoA hydratase deficiency ?,"3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia). Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood. All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.",GHR,3-methylglutaconyl-CoA hydratase deficiency +How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ?,3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.,GHR,3-methylglutaconyl-CoA hydratase deficiency +What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ?,"Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cell structures called mitochondria, which convert energy from food into a form that cells can use. AUH gene mutations lead to an absence of enzyme activity. Without any functional 3-methylglutaconyl-CoA hydratase, leucine is not properly broken down, which leads to a buildup of related compounds, including multiple acids: 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. Researchers speculate that an accumulation of these acids in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) can damage these structures and contribute to the neurological features of 3-methylglutaconyl-CoA hydratase deficiency. Because the age at which the condition begins varies widely and because the signs and symptoms improve in some affected children, researchers speculate that other genes or environmental factors may play a role in the features of 3-methylglutaconyl-CoA hydratase deficiency.",GHR,3-methylglutaconyl-CoA hydratase deficiency +Is 3-methylglutaconyl-CoA hydratase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3-methylglutaconyl-CoA hydratase deficiency +What are the treatments for 3-methylglutaconyl-CoA hydratase deficiency ?,These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency: - Baby's First Test - Genetic Testing Registry: 3-Methylglutaconic aciduria - MedlinePlus Encyclopedia: Metabolic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3-methylglutaconyl-CoA hydratase deficiency +What is (are) familial HDL deficiency ?,"Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as ""good cholesterol"" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. Severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease. People with Tangier disease have additional signs and symptoms, such as disturbances in nerve function; enlarged, orange-colored tonsils; and clouding of the clear covering of the eye (corneal clouding). However, people with familial HDL deficiency do not have these additional features.",GHR,familial HDL deficiency +How many people are affected by familial HDL deficiency ?,"Familial HDL deficiency is a rare disorder, although the prevalence is unknown.",GHR,familial HDL deficiency +What are the genetic changes related to familial HDL deficiency ?,"Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells. The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is produced by the APOA1 gene. Once outside the cell, the cholesterol and phospholipids combine with apoA-I to form HDL. ApoA-I also triggers a reaction that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream. ABCA1 gene mutations and some APOA1 gene mutations prevent the release of cholesterol and phospholipids from cells. Other mutations in the APOA1 gene reduce the protein's ability to stimulate the conversion of cholesterol. These ABCA1 and APOA1 gene mutations decrease the amount of cholesterol or phospholipids available to form HDL, resulting in low levels of HDL in the blood. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease.",GHR,familial HDL deficiency +Is familial HDL deficiency inherited ?,"Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease.",GHR,familial HDL deficiency +What are the treatments for familial HDL deficiency ?,These resources address the diagnosis or management of familial HDL deficiency: - Genetic Testing Registry: Familial hypoalphalipoproteinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial HDL deficiency +What is (are) Jacobsen syndrome ?,"Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorders, which are characterized by impaired communication and socialization skills. Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood.",GHR,Jacobsen syndrome +How many people are affected by Jacobsen syndrome ?,"The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported.",GHR,Jacobsen syndrome +What are the genetic changes related to Jacobsen syndrome ?,"Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions. The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.",GHR,Jacobsen syndrome +Is Jacobsen syndrome inherited ?,"Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children. Between 5 and 10 percent of people with Jacobsen syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. In a balanced translocation, no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with some missing genetic material and some extra genetic material. Individuals with Jacobsen syndrome who inherit an unbalanced translocation are missing genetic material from the end of the long arm of chromosome 11 and have extra genetic material from another chromosome. These chromosomal changes result in the health problems characteristic of this disorder.",GHR,Jacobsen syndrome +What are the treatments for Jacobsen syndrome ?,These resources address the diagnosis or management of Jacobsen syndrome: - 11q Research & Resource Group: Concerns and Recommendations - Genetic Testing Registry: 11q partial monosomy syndrome - Unique: Chromosome 11q Deletion Disorder: Jacobsen Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Jacobsen syndrome +What is (are) hand-foot-genital syndrome ?,"Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. The other bones in the arms and legs are normal. Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias). People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.",GHR,hand-foot-genital syndrome +How many people are affected by hand-foot-genital syndrome ?,Hand-foot-genital syndrome is very rare; only a few families with the condition have been reported worldwide.,GHR,hand-foot-genital syndrome +What are the genetic changes related to hand-foot-genital syndrome ?,"Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system. Mutations in the HOXA13 gene cause the characteristic features of hand-foot-genital syndrome by disrupting the early development of these structures. Some mutations in the HOXA13 gene result in the production of a nonfunctional version of the HOXA13 protein. Other mutations alter the protein's structure and interfere with its normal function within cells. Mutations that result in an altered but functional HOXA13 protein may cause more severe signs and symptoms than mutations that lead to a nonfunctional HOXA13 protein.",GHR,hand-foot-genital syndrome +Is hand-foot-genital syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hand-foot-genital syndrome +What are the treatments for hand-foot-genital syndrome ?,These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Urinary Tract Infection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hand-foot-genital syndrome +What is (are) ZAP70-related severe combined immunodeficiency ?,"ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections.",GHR,ZAP70-related severe combined immunodeficiency +How many people are affected by ZAP70-related severe combined immunodeficiency ?,"ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000.",GHR,ZAP70-related severe combined immunodeficiency +What are the genetic changes related to ZAP70-related severe combined immunodeficiency ?,"As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. T cells identify foreign substances and defend the body against infection. The ZAP70 gene is important for the development and function of several types of T cells. These include cytotoxic T cells (CD8+ T cells), whose functions include destroying cells infected by viruses. The ZAP70 gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct and assist the functions of the immune system by influencing the activities of other immune system cells. Mutations in the ZAP70 gene prevent the production of zeta-chain-associated protein kinase or result in a protein that is unstable and cannot perform its function. A loss of functional zeta-chain-associated protein kinase leads to the absence of CD8+ T cells and an excess of inactive CD4+ T cells. The resulting shortage of active T cells causes people with ZAP70-related SCID to be more susceptible to infection.",GHR,ZAP70-related severe combined immunodeficiency +Is ZAP70-related severe combined immunodeficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ZAP70-related severe combined immunodeficiency +What are the treatments for ZAP70-related severe combined immunodeficiency ?,"These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,ZAP70-related severe combined immunodeficiency +What is (are) McCune-Albright syndrome ?,"McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome. In addition to bone abnormalities, affected individuals usually have light brown patches of skin called caf-au-lait spots, which may be present from birth. The irregular borders of the caf-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, caf-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the caf-au-lait spots in McCune-Albright syndrome often appear on only one side of the body. Girls with McCune-Albright syndrome usually reach puberty early. These girls usually have menstrual bleeding by age two, many years before secondary sex characteristics such as breast enlargement and pubic hair are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty. Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as ""coarse."" Rarely, affected individuals develop Cushing's syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.",GHR,McCune-Albright syndrome +How many people are affected by McCune-Albright syndrome ?,"McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide.",GHR,McCune-Albright syndrome +What are the genetic changes related to McCune-Albright syndrome ?,"McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. GNAS gene mutations that cause McCune-Albright syndrome result in a G protein that causes the adenylate cyclase enzyme to be constantly turned on (constitutively activated). Constitutive activation of the adenylate cyclase enzyme leads to over-production of several hormones, resulting in the signs and symptoms of McCune-Albright syndrome.",GHR,McCune-Albright syndrome +Is McCune-Albright syndrome inherited ?,"McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene.",GHR,McCune-Albright syndrome +What are the treatments for McCune-Albright syndrome ?,These resources address the diagnosis or management of McCune-Albright syndrome: - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome - Genetic Testing Registry: McCune-Albright syndrome - MedlinePlus Encyclopedia: McCune-Albright syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,McCune-Albright syndrome +What is (are) isolated lissencephaly sequence ?,"Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal (microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals with ILS. More than 90 percent of individuals with ILS develop epilepsy, often within the first year of life. Up to 80 percent of infants with ILS have a type of seizure called infantile spasms, these seizures can be severe enough to cause brain dysfunction (epileptic encephalopathy). After the first months of life, most children with ILS develop a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall. Hypotonia also affects the muscles used for breathing, which often causes breathing problems that can lead to a life-threatening bacterial lung infection known as aspiration pneumonia. Children with ILS often develop muscle stiffness (spasticity) in their arms and legs and an abnormal side-to-side curvature of the spine (scoliosis). Rarely, the muscle stiffness will progress to paralysis (spastic paraplegia). Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not develop communication skills.",GHR,isolated lissencephaly sequence +How many people are affected by isolated lissencephaly sequence ?,"ILS affects approximately 1 in 100,000 newborns.",GHR,isolated lissencephaly sequence +What are the genetic changes related to isolated lissencephaly sequence ?,"Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the movement (migration) of nerve cells (neurons) to their proper locations in the developing brain. Neuronal migration is dependent on cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron. The protein produced from the TUBA1A gene is a component of microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules. Mutations in any of these three genes impair the function of microtubules and the normal migration of neurons during fetal development. As a result, the layers of the cerebral cortex are disorganized and the normal folds and grooves of the brain do not form. This impairment of brain development leads to the smooth brain appearance and the resulting neurological problems characteristic of ILS. Some individuals with ILS do not have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations in other genes that affect neuronal migration or other unknown factors.",GHR,isolated lissencephaly sequence +Is isolated lissencephaly sequence inherited ?,"The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When mutations in the DCX gene cause ILS, it is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the DCX gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the DCX gene in each cell can lead to a less severe condition in females called subcortical band heterotopia, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,isolated lissencephaly sequence +What are the treatments for isolated lissencephaly sequence ?,"These resources address the diagnosis or management of isolated lissencephaly sequence: - Gene Review: Gene Review: DCX-Related Disorders - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Gene Review: Gene Review: Tubulinopathies Overview - Genetic Testing Registry: Lissencephaly 1 - Genetic Testing Registry: Lissencephaly 3 - Genetic Testing Registry: Lissencephaly, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,isolated lissencephaly sequence +What is (are) phenylketonuria ?,"Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet. Babies born to mothers with PKU and uncontrolled phenylalanine levels (women who no longer follow a low-phenylalanine diet) have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy loss.",GHR,phenylketonuria +How many people are affected by phenylketonuria ?,"The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.",GHR,phenylketonuria +What are the genetic changes related to phenylketonuria ?,"Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. As a result, this amino acid can build up to toxic levels in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Classic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia. Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors.",GHR,phenylketonuria +Is phenylketonuria inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,phenylketonuria +What are the treatments for phenylketonuria ?,These resources address the diagnosis or management of phenylketonuria: - Baby's First Test - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency - Genetic Testing Registry: Phenylketonuria - MedlinePlus Encyclopedia: Phenylketonuria - MedlinePlus Encyclopedia: Serum Phenylalanine Screening These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,phenylketonuria +What is (are) aromatase deficiency ?,"Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). These individuals typically have normal internal reproductive organs, but develop ovarian cysts early in childhood, which impair the release of egg cells from the ovaries (ovulation). In adolescence, most affected females do not develop secondary sexual characteristics, such as breast growth and menstrual periods. They tend to develop acne and excessive body hair growth (hirsutism). Men with this condition have a typical male chromosome pattern (46,XY) and are born with male external genitalia. Some men with this condition have decreased sex drive, abnormal sperm production, or testes that are small or undescended (cryptorchidism). There are other features associated with aromatase deficiency that can affect both males and females. Affected individuals are abnormally tall because of excessive growth of long bones in the arms and legs. The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones (osteoporosis), which can lead to bone fractures with little trauma. Males and females with aromatase deficiency can have abnormally high blood sugar (hyperglycemia) because the body does not respond correctly to the hormone insulin. In addition, they can have excessive weight gain and a fatty liver. Women who are pregnant with fetuses that have aromatase deficiency often experience mild symptoms of the disorder even though they themselves do not have the disorder. These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery.",GHR,aromatase deficiency +How many people are affected by aromatase deficiency ?,The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.,GHR,aromatase deficiency +What are the genetic changes related to aromatase deficiency ?,"Mutations in the CYP19A1 gene cause aromatase deficiency. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth and blood sugar levels. During fetal development, aromatase converts androgens to estrogens in the placenta, which is the link between the mother's blood supply and the fetus. This conversion in the placenta prevents androgens from directing sexual development in female fetuses. After birth, the conversion of androgens to estrogens takes place in multiple tissues. CYP19A1 gene mutations that cause aromatase deficiency decrease or eliminate aromatase activity. A shortage of functional aromatase results in an inability to convert androgens to estrogens before birth and throughout life. As a result, there is a decrease in estrogen production and an increase in the levels of androgens, including testosterone. In affected individuals, these abnormal hormone levels lead to impaired female sexual development, unusual bone growth, insulin resistance, and other signs and symptoms of aromatase deficiency. In women who are pregnant with an affected fetus, excess androgens in the placenta pass into the woman's bloodstream, which may cause her to have temporary signs and symptoms of aromatase deficiency.",GHR,aromatase deficiency +Is aromatase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,aromatase deficiency +What are the treatments for aromatase deficiency ?,These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,aromatase deficiency +What is (are) dopamine transporter deficiency syndrome ?,"Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later. People with dopamine transporter deficiency syndrome develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia is widespread (generalized), affecting many different muscles. The continuous muscle cramping and spasms cause difficulty with basic activities, including speaking, eating, drinking, picking up objects, and walking. As the condition worsens, affected individuals develop parkinsonism, which is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, and an inability to hold the body upright and balanced (postural instability). Other signs and symptoms that can develop include abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; frequent episodes of pneumonia; and problems with the digestive system, including a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation. People with dopamine transporter deficiency syndrome may have a shortened lifespan, although the long-term effects of this condition are not fully understood. Children with this condition have died from pneumonia and breathing problems. When the first signs and symptoms appear later in life, affected individuals may survive into adulthood.",GHR,dopamine transporter deficiency syndrome +How many people are affected by dopamine transporter deficiency syndrome ?,Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders.,GHR,dopamine transporter deficiency syndrome +What are the genetic changes related to dopamine transporter deficiency syndrome ?,"Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behavior, and control of movement. Mutations in the SLC6A3 gene impair or eliminate the function of the dopamine transporter. The resulting shortage (deficiency) of functional transporter disrupts dopamine signaling in the brain. Although dopamine has a critical role in controlling movement, it is unclear how altered dopamine signaling causes the specific movement abnormalities found in people with dopamine transporter deficiency syndrome. Studies suggest that the age at which signs and symptoms appear is related to how severely the function of the dopamine transporter is affected. Affected individuals who develop movement problems starting in infancy most often have transporter activity that is less than 5 percent of normal. Those whose movement problems appear in childhood or later tend to have somewhat higher levels of transporter activity, although they are still lower than normal. Researchers speculate that higher levels of transporter activity may delay the onset of the disease in these individuals.",GHR,dopamine transporter deficiency syndrome +Is dopamine transporter deficiency syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dopamine transporter deficiency syndrome +What are the treatments for dopamine transporter deficiency syndrome ?,These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dopamine transporter deficiency syndrome +What is (are) Clouston syndrome ?,"Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder. Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).",GHR,Clouston syndrome +How many people are affected by Clouston syndrome ?,The prevalence of Clouston syndrome is unknown. Cases have been reported in many populations; the disorder is especially common among people of French-Canadian descent.,GHR,Clouston syndrome +What are the genetic changes related to Clouston syndrome ?,"Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules. Connexin 30 is found in several different tissues throughout the body, including the skin (especially on the palms of the hands and soles of the feet), hair follicles, and nail beds, and plays a role in the growth and development of these tissues. GJB6 gene mutations that cause Clouston syndrome change single protein building blocks (amino acids) in the connexin 30 protein. Although the effects of these mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair follicles, nails, and skin.",GHR,Clouston syndrome +Is Clouston syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Clouston syndrome +What are the treatments for Clouston syndrome ?,These resources address the diagnosis or management of Clouston syndrome: - Gene Review: Gene Review: Hidrotic Ectodermal Dysplasia 2 - Genetic Testing Registry: Hidrotic ectodermal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Clouston syndrome +What is (are) asphyxiating thoracic dystrophy ?,"Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age. Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.",GHR,asphyxiating thoracic dystrophy +How many people are affected by asphyxiating thoracic dystrophy ?,"Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.",GHR,asphyxiating thoracic dystrophy +What are the genetic changes related to asphyxiating thoracic dystrophy ?,"Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes. The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone. Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition. Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.",GHR,asphyxiating thoracic dystrophy +Is asphyxiating thoracic dystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,asphyxiating thoracic dystrophy +What are the treatments for asphyxiating thoracic dystrophy ?,These resources address the diagnosis or management of asphyxiating thoracic dystrophy: - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 - Genetic Testing Registry: Jeune thoracic dystrophy - Genetic Testing Registry: Short-rib thoracic dysplasia 1 with or without polydactyly - Jeune's Center at Nationwide Children's Hospital - MedlinePlus Encyclopedia: Chronic Renal Failure - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,asphyxiating thoracic dystrophy +What is (are) triosephosphate isomerase deficiency ?,"Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes. Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures. Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure. Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract. People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood.",GHR,triosephosphate isomerase deficiency +How many people are affected by triosephosphate isomerase deficiency ?,Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific literature.,GHR,triosephosphate isomerase deficiency +What are the genetic changes related to triosephosphate isomerase deficiency ?,"Mutations in the TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy for cells. TPI1 gene mutations lead to the production of unstable enzymes or enzymes with decreased activity. As a result, glycolysis is impaired and cells have a decreased supply of energy. Red blood cells depend solely on the breakdown of glucose for energy, and without functional glycolysis, red blood cells die earlier than normal. Cells with high energy demands, such as nerve cells in the brain, white blood cells, and heart (cardiac) muscle cells are also susceptible to cell death due to reduced energy caused by impaired glycolysis. Nerve cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected in people with triosephosphate isomerase deficiency. Death of red and white blood cells, nerve cells in the brain, and cardiac muscle cells leads to the signs and symptoms of triosephosphate isomerase deficiency.",GHR,triosephosphate isomerase deficiency +Is triosephosphate isomerase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,triosephosphate isomerase deficiency +What are the treatments for triosephosphate isomerase deficiency ?,"These resources address the diagnosis or management of triosephosphate isomerase deficiency: - Genetic Testing Registry: Triosephosphate isomerase deficiency - MedlinePlus Encyclopedia: Hemolytic Anemia - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,triosephosphate isomerase deficiency +What is (are) Aicardi syndrome ?,"Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina). People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows. Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding. The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.",GHR,Aicardi syndrome +How many people are affected by Aicardi syndrome ?,"Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide.",GHR,Aicardi syndrome +What are the genetic changes related to Aicardi syndrome ?,"The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Genes on these chromosomes are also involved in other functions in the body. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Skewed X-inactivation sometimes occurs when there is a severe gene mutation in one of the X chromosomes in each cell. Because the cells where this chromosome is active will not be able to survive as well, X-inactivation will appear to be skewed. Skewed X-inactivation has been identified in girls with Aicardi syndrome, further supporting the idea that the disorder is caused by a mutation in a gene on the X chromosome. However, this gene has not been identified, and it is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder.",GHR,Aicardi syndrome +Is Aicardi syndrome inherited ?,"Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition. While the gene associated with this disorder is not known, it is believed to be located on the X chromosome. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell is nearly always lethal very early in development, so almost all babies with Aicardi syndrome are female. However, a few affected males with an extra copy of the X chromosome in each cell (47,XXY) have been identified. Males with a 47,XXY chromosome pattern also have a condition called Klinefelter syndrome.",GHR,Aicardi syndrome +What are the treatments for Aicardi syndrome ?,These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Aicardi syndrome +What is (are) mucopolysaccharidosis type III ?,"Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Affected children often initially have delayed speech and behavior problems. They may become restless, destructive, anxious, or aggressive. Sleep disturbances are also very common in children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders. The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. Individuals with MPS III typically have mildly ""coarse"" facial features, a large head (macrocephaly), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Affected individuals often develop chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also experience hearing loss and vision problems. MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. People with MPS III usually live into adolescence or early adulthood.",GHR,mucopolysaccharidosis type III +How many people are affected by mucopolysaccharidosis type III ?,"MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID.",GHR,mucopolysaccharidosis type III +What are the genetic changes related to mucopolysaccharidosis type III ?,"Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU, and SGSH enzymes are involved in the step-wise breakdown of a subset of GAGs called heparan sulfate. MPS IIIA is caused by mutations in the SGSH gene, and MPS IIIB is caused by NAGLU gene mutations. Mutations in the HGSNAT gene result in MPS IIIC, and GNS gene mutations cause MPS IIID. Mutations in these genes reduce or eliminate enzyme function. A lack of any one of these enzymes disrupts the breakdown of heparan sulfate. As a result, partially broken down heparan sulfate accumulates within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS III that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III.",GHR,mucopolysaccharidosis type III +Is mucopolysaccharidosis type III inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mucopolysaccharidosis type III +What are the treatments for mucopolysaccharidosis type III ?,"These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D - MedlinePlus Encyclopedia: Sanfilippo Syndrome - National MPS Society: A Guide to Understanding MPS III These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,mucopolysaccharidosis type III +What is (are) harlequin ichthyosis ?,"Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure. The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.",GHR,harlequin ichthyosis +How many people are affected by harlequin ichthyosis ?,Harlequin ichthyosis is very rare; its exact incidence is unknown.,GHR,harlequin ichthyosis +What are the genetic changes related to harlequin ichthyosis ?,"Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.",GHR,harlequin ichthyosis +Is harlequin ichthyosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,harlequin ichthyosis +What are the treatments for harlequin ichthyosis ?,These resources address the diagnosis or management of harlequin ichthyosis: - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4B These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,harlequin ichthyosis +What is (are) hyperferritinemia-cataract syndrome ?,"Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light. Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.",GHR,hyperferritinemia-cataract syndrome +How many people are affected by hyperferritinemia-cataract syndrome ?,"Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.",GHR,hyperferritinemia-cataract syndrome +What are the genetic changes related to hyperferritinemia-cataract syndrome ?,"Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues. The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.",GHR,hyperferritinemia-cataract syndrome +Is hyperferritinemia-cataract syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hyperferritinemia-cataract syndrome +What are the treatments for hyperferritinemia-cataract syndrome ?,These resources address the diagnosis or management of hyperferritinemia-cataract syndrome: - Boston Children's Hospital: Cataracts in Children - Genetic Testing Registry: Hyperferritinemia cataract syndrome - MedlinePlus Encyclopedia: Cataract Removal These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hyperferritinemia-cataract syndrome +What is (are) abetalipoproteinemia ?,"Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye. The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially a deficiency of vitamin E.",GHR,abetalipoproteinemia +How many people are affected by abetalipoproteinemia ?,Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.,GHR,abetalipoproteinemia +What are the genetic changes related to abetalipoproteinemia ?,"Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. Most of the mutations in the MTTP gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. A lack of beta-lipoproteins causes the nutritional and neurological problems seen in people with abetalipoproteinemia.",GHR,abetalipoproteinemia +Is abetalipoproteinemia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,abetalipoproteinemia +What are the treatments for abetalipoproteinemia ?,These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Stools - floating These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,abetalipoproteinemia +What is (are) chylomicron retention disease ?,"Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development. The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.",GHR,chylomicron retention disease +How many people are affected by chylomicron retention disease ?,Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.,GHR,chylomicron retention disease +What are the genetic changes related to chylomicron retention disease ?,"Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the bloodstream. A lack of chylomicrons in the blood prevents dietary fats and fat-soluble vitamins from being used by the body, leading to the nutritional and developmental problems seen in people with chylomicron retention disease.",GHR,chylomicron retention disease +Is chylomicron retention disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,chylomicron retention disease +What are the treatments for chylomicron retention disease ?,These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,chylomicron retention disease +What is (are) atelosteogenesis type 1 ?,"Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes. Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.",GHR,atelosteogenesis type 1 +How many people are affected by atelosteogenesis type 1 ?,Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified.,GHR,atelosteogenesis type 1 +What are the genetic changes related to atelosteogenesis type 1 ?,"Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. Filamin B also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development. Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, a process called ossification, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage. FLNB gene mutations that cause atelosteogenesis type 1 change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of atelosteogenesis type 1.",GHR,atelosteogenesis type 1 +Is atelosteogenesis type 1 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,atelosteogenesis type 1 +What are the treatments for atelosteogenesis type 1 ?,These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,atelosteogenesis type 1 +What is (are) spondylocostal dysostosis ?,"Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spine abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition are born with small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis. There are several types of spondylocostal dysostosis, designated types 1 through 4 and the autosomal dominant (AD) type. These types have similar features and are distinguished by their genetic cause and inheritance pattern. Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are called Jarcho-Levin syndrome; however, they are now considered distinct conditions.",GHR,spondylocostal dysostosis +How many people are affected by spondylocostal dysostosis ?,"Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown.",GHR,spondylocostal dysostosis +What are the genetic changes related to spondylocostal dysostosis ?,"Mutations in at least four genes are known to cause spondylocostal dysostosis: Mutations in the DLL3 gene cause spondylocostal dysostosis type 1; mutations in the MESP2 gene cause spondylocostal dysostosis type 2; mutations in the LFNG gene cause spondylocostal dysostosis type 3; and mutations in the HES7 gene cause spondylocostal dysostosis type 4. The genetic cause of AD spondylocostal dysostosis is unknown. The DLL3, MESP2, LFNG, and HES7 genes play a role in the Notch signaling pathway, an important pathway in embryonic development. One of the functions of the Notch pathway is separating future vertebrae from one another during early development, a process called somite segmentation. When this pathway is disrupted, somite segmentation does not occur properly, resulting in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis. Mutations in the four identified genes account for approximately 25 percent of diagnosed spondylocostal dysostosis. Researchers suggest that additional genes in the Notch signaling pathway might also be involved.",GHR,spondylocostal dysostosis +Is spondylocostal dysostosis inherited ?,"Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. AD spondylocostal dysostosis is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder, although in these cases no causative genes have been identified. The signs and symptoms of spondylocostal dysostosis are typically more severe with autosomal recessive inheritance.",GHR,spondylocostal dysostosis +What are the treatments for spondylocostal dysostosis ?,"These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dysostosis 1 - Genetic Testing Registry: Spondylocostal dysostosis 2 - Genetic Testing Registry: Spondylocostal dysostosis 3 - Genetic Testing Registry: Spondylocostal dysostosis 4, autosomal recessive - KidsHealth: X-Ray Exam (Scoliosis) - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,spondylocostal dysostosis +What is (are) lamellar ichthyosis ?,"Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).",GHR,lamellar ichthyosis +How many people are affected by lamellar ichthyosis ?,"Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected.",GHR,lamellar ichthyosis +What are the genetic changes related to lamellar ichthyosis ?,"Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections. Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope. Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.",GHR,lamellar ichthyosis +Is lamellar ichthyosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,lamellar ichthyosis +What are the treatments for lamellar ichthyosis ?,These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8 - Genetic Testing Registry: Congenital ichthyosis of skin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,lamellar ichthyosis +What is (are) narcolepsy ?,"Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence. Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. ""Sleep attacks"" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed. Another common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy. Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals. Some people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.",GHR,narcolepsy +How many people are affected by narcolepsy ?,"Narcolepsy affects about 1 in 2,000 people in the United States and Western Europe. However, the disorder is likely underdiagnosed, particularly in people with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, where it affects an estimated 1 in 600 people.",GHR,narcolepsy +What are the genetic changes related to narcolepsy ?,"Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown. In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a part of the brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. It is unclear what triggers the death of hypocretin-producing neurons in people with narcolepsy, although evidence increasingly points to an abnormality of the immune system. Researchers have identified changes in several genes that influence the risk of developing narcolepsy. The most well-studied of these genes is HLA-DQB1, which provides instructions for making part of a protein that plays an important role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-DQB1 gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-DQB1 gene called HLA-DQB1*06:02 has been strongly associated with narcolepsy, particularly in people who also have cataplexy and a loss of hypocretins. Most people with narcolepsy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes. It is unclear how these genetic changes influence the risk of developing the condition. Variations in several additional genes have also been associated with narcolepsy. Many of these genes are thought to play roles in immune system function. However, variations in these genes probably make only a small contribution to the overall risk of developing narcolepsy. Other genetic and environmental factors are also likely to influence a person's chances of developing this disorder. For example, studies suggest that bacterial or viral infections such as strep throat (streptococcus), colds, and influenza may be involved in triggering narcolepsy in people who are at risk.",GHR,narcolepsy +Is narcolepsy inherited ?,"Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of people with narcolepsy with cataplexy have a 40 times greater risk of developing the condition compared with people in the general population.",GHR,narcolepsy +What are the treatments for narcolepsy ?,"These resources address the diagnosis or management of narcolepsy: - Genetic Testing Registry: Narcolepsy 1 - Genetic Testing Registry: Narcolepsy 2, susceptibility to - Genetic Testing Registry: Narcolepsy 3 - Genetic Testing Registry: Narcolepsy 4, susceptibility to - Genetic Testing Registry: Narcolepsy 5, susceptibility to - Narcolepsy Network: Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,narcolepsy +What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?,"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss. People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term ""supravalvular"" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.",GHR,retinal arterial macroaneurysm with supravalvular pulmonic stenosis +How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?,"RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature.",GHR,retinal arterial macroaneurysm with supravalvular pulmonic stenosis +What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?,"RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth. The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.",GHR,retinal arterial macroaneurysm with supravalvular pulmonic stenosis +Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,retinal arterial macroaneurysm with supravalvular pulmonic stenosis +What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?,These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluorescein Angiography - University of Rochester Medical Center: Pulmonary Stenosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,retinal arterial macroaneurysm with supravalvular pulmonic stenosis +What is (are) X-linked severe combined immunodeficiency ?,"X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.",GHR,X-linked severe combined immunodeficiency +How many people are affected by X-linked severe combined immunodeficiency ?,"X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns.",GHR,X-linked severe combined immunodeficiency +What are the genetic changes related to X-linked severe combined immunodeficiency ?,"Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections.",GHR,X-linked severe combined immunodeficiency +Is X-linked severe combined immunodeficiency inherited ?,"This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,X-linked severe combined immunodeficiency +What are the treatments for X-linked severe combined immunodeficiency ?,These resources address the diagnosis or management of X-linked SCID: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency - Genetic Testing Registry: X-linked severe combined immunodeficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorders - National Marrow Donor Program: Severe Combined Immunodeficiency and Transplant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,X-linked severe combined immunodeficiency +What is (are) fibrochondrogenesis ?,"Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones in the arms and legs that are unusually wide at the ends (described as dumbbell-shaped). People with this condition also have a narrow chest with short, wide ribs and a round and prominent abdomen. The bones of the spine (vertebrae) are flattened (platyspondyly) and have a characteristic pinched or pear shape that is noticeable on x-rays. Other skeletal abnormalities associated with fibrochondrogenesis include abnormal curvature of the spine and underdeveloped hip (pelvic) bones. People with fibrochondrogenesis also have distinctive facial features. These include prominent eyes, low-set ears, a small mouth with a long upper lip, and a small chin (micrognathia). Affected individuals have a relatively flat-appearing midface, particularly a small nose with a flat nasal bridge and nostrils that open to the front rather than downward (anteverted nares). Vision problems, including severe nearsightedness (high myopia) and clouding of the lens of the eye (cataract), are common in those who survive infancy. Most affected individuals also have sensorineural hearing loss, which is caused by abnormalities of the inner ear.",GHR,fibrochondrogenesis +How many people are affected by fibrochondrogenesis ?,Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.,GHR,fibrochondrogenesis +What are the genetic changes related to fibrochondrogenesis ?,"Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between vertebrae. Mutations in the COL11A1 or COL11A2 gene impair the assembly of type XI collagen, in most cases leading to the production of abnormal collagen molecules. The defective collagen weakens connective tissues, impairing the formation of bones throughout the skeleton and causing changes in the eye and inner ear that lead to vision and hearing problems.",GHR,fibrochondrogenesis +Is fibrochondrogenesis inherited ?,"Fibrochondrogenesis is generally inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss. In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In this case, the condition resulted from a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) in one of the affected individual's parents. There was no history of the disorder in the family.",GHR,fibrochondrogenesis +What are the treatments for fibrochondrogenesis ?,These resources address the diagnosis or management of fibrochondrogenesis: - Genetic Testing Registry: Fibrochondrogenesis - Genetic Testing Registry: Fibrochondrogenesis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,fibrochondrogenesis +What is (are) hereditary sensory neuropathy type IA ?,"Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance. Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb. Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood. The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.",GHR,hereditary sensory neuropathy type IA +How many people are affected by hereditary sensory neuropathy type IA ?,"Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals.",GHR,hereditary sensory neuropathy type IA +What are the genetic changes related to hereditary sensory neuropathy type IA ?,"Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions. SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.",GHR,hereditary sensory neuropathy type IA +Is hereditary sensory neuropathy type IA inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,hereditary sensory neuropathy type IA +What are the treatments for hereditary sensory neuropathy type IA ?,These resources address the diagnosis or management of hereditary sensory neuropathy type IA: - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 - Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium - The Foundation for Peripheral Neuropathy: Symptoms These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,hereditary sensory neuropathy type IA +What is (are) von Willebrand disease ?,"Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent. Von Willebrand disease is divided into three types, with type 2 being further divided into four subtypes. Type 1 is the mildest and most common of the three types, accounting for 75 percent of affected individuals. Type 3 is the most severe and rarest form of the condition. The four subtypes of type 2 von Willebrand disease are intermediate in severity. Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene mutations. Acquired von Willebrand syndrome is typically seen along with other disorders, such as diseases that affect bone marrow or immune cell function. This rare form of the condition is characterized by abnormal bleeding into the skin and other soft tissues, usually beginning in adulthood.",GHR,von Willebrand disease +How many people are affected by von Willebrand disease ?,"Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder.",GHR,von Willebrand disease +What are the genetic changes related to von Willebrand disease ?,"Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Von Willebrand factor acts as a glue to hold blood clots together and prevents the breakdown of other blood clotting proteins. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. Abnormally slow blood clotting causes the prolonged bleeding episodes seen in von Willebrand disease. The three types of von Willebrand disease are based upon the amount of von Willebrand factor that is produced. Mutations in the VWF gene that reduce the amount of von Willebrand factor cause type 1 von Willebrand disease. People with type 1 have varying amounts of von Willebrand factor in their bloodstream. Some people with a mild case of type 1 never experience a prolonged bleeding episode. Mutations that disrupt the function of von Willebrand factor cause the four subtypes of type 2 von Willebrand disease. People with type 2 von Willebrand disease have bleeding episodes of varying severity depending on the extent of von Willebrand factor dysfunction, but the bleeding episodes are typically similar to those seen in type 1. Mutations that result in an abnormally short, nonfunctional von Willebrand factor generally cause type 3 von Willebrand disease. Because there is no functional protein, people with type 3 von Willebrand disease usually have severe bleeding episodes.",GHR,von Willebrand disease +Is von Willebrand disease inherited ?,"Von Willebrand disease can have different inheritance patterns. Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Type 3, some cases of type 2, and a small number of type 1 cases of von Willebrand disease are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.",GHR,von Willebrand disease +What are the treatments for von Willebrand disease ?,These resources address the diagnosis or management of von Willebrand disease: - Gene Review: Gene Review: von Willebrand Disease - Genetic Testing Registry: von Willebrand disorder - MedlinePlus Encyclopedia: von Willebrand Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,von Willebrand disease +What is (are) Schinzel-Giedion syndrome ?,"Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood. Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy. Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias). Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges). Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors.",GHR,Schinzel-Giedion syndrome +How many people are affected by Schinzel-Giedion syndrome ?,"Schinzel-Giedion syndrome is very rare, although the exact prevalence is unknown.",GHR,Schinzel-Giedion syndrome +What are the genetic changes related to Schinzel-Giedion syndrome ?,"Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown. The SETBP1 gene mutations that have been identified in Schinzel-Giedion syndrome cluster in one region of the gene known as exon 4. However, the effects of the mutations on the function of the gene or the protein are unknown. Researchers are working to understand how mutations in the SETBP1 gene cause the signs and symptoms of Schinzel-Giedion syndrome.",GHR,Schinzel-Giedion syndrome +Is Schinzel-Giedion syndrome inherited ?,Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder.,GHR,Schinzel-Giedion syndrome +What are the treatments for Schinzel-Giedion syndrome ?,These resources address the diagnosis or management of Schinzel-Giedion syndrome: - Genetic Testing Registry: Schinzel-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Schinzel-Giedion syndrome +What is (are) capillary malformation-arteriovenous malformation syndrome ?,"Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins. CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems. In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms. Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.",GHR,capillary malformation-arteriovenous malformation syndrome +How many people are affected by capillary malformation-arteriovenous malformation syndrome ?,"CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown.",GHR,capillary malformation-arteriovenous malformation syndrome +What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ?,"CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system. Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities seen in people with CM-AVM.",GHR,capillary malformation-arteriovenous malformation syndrome +Is capillary malformation-arteriovenous malformation syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,capillary malformation-arteriovenous malformation syndrome +What are the treatments for capillary malformation-arteriovenous malformation syndrome ?,These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,capillary malformation-arteriovenous malformation syndrome +What is (are) familial dysautonomia ?,"Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.",GHR,familial dysautonomia +How many people are affected by familial dysautonomia ?,"Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population.",GHR,familial dysautonomia +What are the genetic changes related to familial dysautonomia ?,"Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cellsparticularly brain cellshave very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.",GHR,familial dysautonomia +Is familial dysautonomia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,familial dysautonomia +What are the treatments for familial dysautonomia ?,These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial dysautonomia +What is (are) Brooke-Spiegler syndrome ?,"Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with Brooke-Spiegler syndrome are often more severely affected than males.",GHR,Brooke-Spiegler syndrome +How many people are affected by Brooke-Spiegler syndrome ?,Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown.,GHR,Brooke-Spiegler syndrome +What are the genetic changes related to Brooke-Spiegler syndrome ?,"Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with Brooke-Spiegler syndrome are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with Brooke-Spiegler syndrome, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in different types of cells in the skin leads to the growth of a variety of skin appendage tumors. Some researchers consider Brooke-Spiegler syndrome and two related conditions called multiple familial trichoepithelioma and familial cylindromatosis, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders.",GHR,Brooke-Spiegler syndrome +Is Brooke-Spiegler syndrome inherited ?,"Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.",GHR,Brooke-Spiegler syndrome +What are the treatments for Brooke-Spiegler syndrome ?,These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Brooke-Spiegler syndrome +What is (are) Feingold syndrome ?,"Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes. People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.",GHR,Feingold syndrome +How many people are affected by Feingold syndrome ?,"Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.",GHR,Feingold syndrome +What are the genetic changes related to Feingold syndrome ?,"Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor. Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.",GHR,Feingold syndrome +Is Feingold syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Feingold syndrome +What are the treatments for Feingold syndrome ?,These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Feingold syndrome +What is (are) neuroblastoma ?,"Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin. In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue. Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.",GHR,neuroblastoma +How many people are affected by neuroblastoma ?,"Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States.",GHR,neuroblastoma +What are the genetic changes related to neuroblastoma ?,"Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetime and are called somatic mutations. Somatic mutations are present only in certain cells and are not inherited. When neuroblastoma is associated with somatic mutations, it is called sporadic neuroblastoma. It is thought that somatic mutations in at least two genes are required to cause sporadic neuroblastoma. Less commonly, gene mutations that increase the risk of developing cancer can be inherited from a parent. When the mutation associated with neuroblastoma is inherited, the condition is called familial neuroblastoma. Mutations in the ALK and PHOX2B genes have been shown to increase the risk of developing sporadic and familial neuroblastoma. It is likely that there are other genes involved in the formation of neuroblastoma. Several mutations in the ALK gene are involved in the development of sporadic and familial neuroblastoma. The ALK gene provides instructions for making a protein called anaplastic lymphoma kinase. Although the specific function of this protein is unknown, it appears to play an important role in cell proliferation. Mutations in the ALK gene result in an abnormal version of anaplastic lymphoma kinase that is constantly turned on (constitutively activated). Constitutively active anaplastic lymphoma kinase may induce abnormal proliferation of immature nerve cells and lead to neuroblastoma. Several mutations in the PHOX2B gene have been identified in sporadic and familial neuroblastoma. The PHOX2B gene is important for the formation and differentiation of nerve cells. Mutations in this gene are believed to interfere with the PHOX2B protein's role in promoting nerve cell differentiation. This disruption of differentiation results in an excess of immature nerve cells and leads to neuroblastoma. Deletion of certain regions of chromosome 1 and chromosome 11 are associated with neuroblastoma. Researchers believe the deleted regions in these chromosomes could contain a gene that keeps cells from growing and dividing too quickly or in an uncontrolled way, called a tumor suppressor gene. When a tumor suppressor gene is deleted, cancer can occur. The KIF1B gene is a tumor suppressor gene located in the deleted region of chromosome 1, and mutations in this gene have been identified in some people with familial neuroblastoma, indicating it is involved in neuroblastoma development or progression. There are several other possible tumor suppressor genes in the deleted region of chromosome 1. No tumor suppressor genes have been identified in the deleted region of chromosome 11. Another genetic change found in neuroblastoma is associated with the severity of the disease but not thought to cause it. About 25 percent of people with neuroblastoma have extra copies of the MYCN gene, a phenomenon called gene amplification. It is unknown how amplification of this gene contributes to the aggressive nature of neuroblastoma.",GHR,neuroblastoma +Is neuroblastoma inherited ?,"Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell increases the risk of developing the disorder. However, the inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops neuroblastoma. Having the altered gene predisposes an individual to develop neuroblastoma, but an additional somatic mutation is probably needed to cause the condition.",GHR,neuroblastoma +What are the treatments for neuroblastoma ?,These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Testing Registry: Neuroblastoma 2 - Genetic Testing Registry: Neuroblastoma 3 - National Cancer Institute - The Children's Hospital of Pennsylvania These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,neuroblastoma +What is (are) benign chronic pemphigus ?,"Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as ""benign"" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus.",GHR,benign chronic pemphigus +How many people are affected by benign chronic pemphigus ?,Benign chronic pemphigus is a rare condition; its prevalence is unknown.,GHR,benign chronic pemphigus +What are the genetic changes related to benign chronic pemphigus ?,"Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). The hSPCA1 protein appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis). Mutations in the ATP2C1 gene reduce the amount of functional hSPCA1 protein in cells. This abnormality impairs cells' ability to store calcium normally. For unknown reasons, this abnormal calcium storage affects keratinocytes more than other types of cells. The abnormal regulation of calcium impairs many cell functions, including cell adhesion. As a result, keratinocytes do not stick tightly to one another, which causes the epidermis to become fragile and less resistant to minor trauma. Because the skin is easily damaged, it develops raw, blistered areas, particularly in skin folds where there is moisture and friction.",GHR,benign chronic pemphigus +Is benign chronic pemphigus inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,benign chronic pemphigus +What are the treatments for benign chronic pemphigus ?,These resources address the diagnosis or management of benign chronic pemphigus: - American Osteopathic College of Dermatology - Genetic Testing Registry: Familial benign pemphigus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,benign chronic pemphigus +What is (are) Fuchs endothelial dystrophy ?,"Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights. Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread. These guttae contribute to the loss of cells in the cornea, leading to vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain. The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.",GHR,Fuchs endothelial dystrophy +How many people are affected by Fuchs endothelial dystrophy ?,"The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown. For reasons that are unclear, women are affected with Fuchs endothelial dystrophy somewhat more frequently than men.",GHR,Fuchs endothelial dystrophy +What are the genetic changes related to Fuchs endothelial dystrophy ?,"The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested. Fuchs endothelial dystrophy affects a thin layer of cells that line the back of the cornea, called corneal endothelial cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision. Fuchs endothelial dystrophy occurs when the endothelial cells die, and the cornea becomes swollen with too much fluid. Corneal endothelial cells continue to die over time, resulting in further vision problems. It is thought that mutations in genes that are active (expressed) primarily in corneal endothelial cells or surrounding tissue may lead to the death of corneal endothelial cells, resulting in Fuchs endothelial dystrophy. Some cases of the early-onset variant of Fuchs endothelial dystrophy are caused by mutations in the COL8A2 gene. This gene provides instructions for making a protein that is part of type VIII collagen. Type VIII collagen is largely found within the cornea, surrounding the endothelial cells. Specifically, type VIII collagen is a major component of a tissue at the back of the cornea, called Descemet's membrane. This membrane is a thin, sheet-like structure that separates and supports corneal endothelial cells. COL8A2 gene mutations that cause the early-onset variant of Fuchs endothelial dystrophy lead to an abnormal Descemet's membrane, which causes the cells to die and leads to the vision problems in people with this condition. Mutations in unidentified genes are also likely to cause the early-onset variant of Fuchs endothelial dystrophy. The genetic causes of the late-onset form of the disorder are unknown.",GHR,Fuchs endothelial dystrophy +Is Fuchs endothelial dystrophy inherited ?,"In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is apparent in some situations in which the condition is caused by alterations in an unknown gene. In many families, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family.",GHR,Fuchs endothelial dystrophy +What are the treatments for Fuchs endothelial dystrophy ?,"These resources address the diagnosis or management of Fuchs endothelial dystrophy: - Duke Eye Center: Corneal Disease - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 3 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 4 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 5 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 6 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 7 - MedlinePlus Encyclopedia: Fuchs Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Fuchs endothelial dystrophy +What is (are) autosomal recessive cerebellar ataxia type 1 ?,"Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.",GHR,autosomal recessive cerebellar ataxia type 1 +How many people are affected by autosomal recessive cerebellar ataxia type 1 ?,"More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide.",GHR,autosomal recessive cerebellar ataxia type 1 +What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ?,"Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.",GHR,autosomal recessive cerebellar ataxia type 1 +Is autosomal recessive cerebellar ataxia type 1 inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,autosomal recessive cerebellar ataxia type 1 +What are the treatments for autosomal recessive cerebellar ataxia type 1 ?,"These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? - MedlinePlus Encyclopedia: Dysarthria--Care These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autosomal recessive cerebellar ataxia type 1 +What is (are) dopamine beta-hydroxylase deficiency ?,"Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia). Individuals with dopamine -hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine -hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure. Other features of dopamine -hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.",GHR,dopamine beta-hydroxylase deficiency +How many people are affected by dopamine beta-hydroxylase deficiency ?,"Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.",GHR,dopamine beta-hydroxylase deficiency +What are the genetic changes related to dopamine beta-hydroxylase deficiency ?,"Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. DBH gene mutations result in the production of a nonfunctional dopamine -hydroxylase enzyme. People who lack functional dopamine -hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine -hydroxylase deficiency.",GHR,dopamine beta-hydroxylase deficiency +Is dopamine beta-hydroxylase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,dopamine beta-hydroxylase deficiency +What are the treatments for dopamine beta-hydroxylase deficiency ?,These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,dopamine beta-hydroxylase deficiency +What is (are) congenital hepatic fibrosis ?,"Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and of the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing. A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow, and fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Constriction of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding. People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder. Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys (the renal system), such as polycystic kidney disease (PKD).",GHR,congenital hepatic fibrosis +How many people are affected by congenital hepatic fibrosis ?,"Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals.",GHR,congenital hepatic fibrosis +What are the genetic changes related to congenital hepatic fibrosis ?,"Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts. The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.",GHR,congenital hepatic fibrosis +Is congenital hepatic fibrosis inherited ?,"The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes. In isolated congenital hepatic fibrosis, the inheritance pattern is unknown.",GHR,congenital hepatic fibrosis +What are the treatments for congenital hepatic fibrosis ?,These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,congenital hepatic fibrosis +What is (are) Dandy-Walker malformation ?,"Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions. In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. Some children have a buildup of fluid in the brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition. Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), or a failure of some nerve cells (neurons) to migrate to their proper location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms. Dandy-Walker malformation typically affects only the brain, but problems in other systems can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features. In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. These individuals typically have a different range of features than those affected in infancy, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes. Rarely, people with Dandy-Walker malformation have no health problems related to the condition. Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.",GHR,Dandy-Walker malformation +How many people are affected by Dandy-Walker malformation ?,"Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.",GHR,Dandy-Walker malformation +What are the genetic changes related to Dandy-Walker malformation ?,"Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation.",GHR,Dandy-Walker malformation +Is Dandy-Walker malformation inherited ?,"Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker malformation have an increased risk of developing the condition compared with people in the general population. When Dandy-Walker malformation is a feature of a genetic condition, it is inherited in the pattern of that condition.",GHR,Dandy-Walker malformation +What are the treatments for Dandy-Walker malformation ?,These resources address the diagnosis or management of Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Dandy-Walker malformation +What is (are) familial hyperaldosteronism ?,"Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement. There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.",GHR,familial hyperaldosteronism +How many people are affected by familial hyperaldosteronism ?,The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism.,GHR,familial hyperaldosteronism +What are the genetic changes related to familial hyperaldosteronism ?,"The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I. Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. The genetic cause of familial hyperaldosteronism type II is unknown.",GHR,familial hyperaldosteronism +Is familial hyperaldosteronism inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,familial hyperaldosteronism +What are the treatments for familial hyperaldosteronism ?,These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Glucocorticoid-Remediable Aldosteronism - MedlinePlus Encyclopedia: Aldosterone These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial hyperaldosteronism +What is (are) Pfeiffer syndrome ?,"Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.",GHR,Pfeiffer syndrome +How many people are affected by Pfeiffer syndrome ?,"Pfeiffer syndrome affects about 1 in 100,000 individuals.",GHR,Pfeiffer syndrome +What are the genetic changes related to Pfeiffer syndrome ?,"Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.",GHR,Pfeiffer syndrome +Is Pfeiffer syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,Pfeiffer syndrome +What are the treatments for Pfeiffer syndrome ?,These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Webbing of fingers or toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Pfeiffer syndrome +What is (are) 3MC syndrome ?,"3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals. 3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.",GHR,3MC syndrome +How many people are affected by 3MC syndrome ?,3MC syndrome is a rare disorder; its exact prevalence is unknown.,GHR,3MC syndrome +What are the genetic changes related to 3MC syndrome ?,"3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells, which give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. The COLEC11 gene provides instructions for making a protein called CL-K1. Three different proteins, MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene's instructions are pieced together. The MASP1 gene mutations identified in people with 3MC syndrome affect the MASP-3 protein; some affect the MASP-1 protein in addition to MASP-3. COLEC11 and MASP1 gene mutations that cause 3MC syndrome impair or eliminate the function of the corresponding proteins, resulting in faulty control of cell migration in embryonic development and leading to the various abnormalities that occur in this disorder. In some people with 3MC syndrome, no mutations in the COLEC11 or MASP1 gene have been identified. In these individuals, the cause of the disorder is unknown.",GHR,3MC syndrome +Is 3MC syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,3MC syndrome +What are the treatments for 3MC syndrome ?,These resources address the diagnosis or management of 3MC syndrome: - Genetic Testing Registry: Carnevale syndrome - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome - Genetic Testing Registry: Malpuech facial clefting syndrome - Genetic Testing Registry: Michels syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,3MC syndrome +What is (are) methylmalonic acidemia with homocystinuria ?,"Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age. When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated. When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.",GHR,methylmalonic acidemia with homocystinuria +How many people are affected by methylmalonic acidemia with homocystinuria ?,"The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California. Other types of methylmalonic acidemia with homocystinuria are much less common. Fewer than 20 cases of each of the other types have been reported in the medical literature.",GHR,methylmalonic acidemia with homocystinuria +What are the genetic changes related to methylmalonic acidemia with homocystinuria ?,"Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, which are known as complementation groups: cblC, cblD, cblF, cblJ, and cblX, respectively. Each of the above-mentioned genes is involved in the processing of vitamin B12, also known as cobalamin or Cbl. Processing of the vitamin converts it to one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme that helps break down certain amino acids, lipids, and cholesterol. AdoCbl is called a cofactor because it helps the enzyme carry out its function. MeCbl is also a cofactor, but for another enzyme that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds. Mutations in the MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1 gene affect early steps of vitamin B12 processing, resulting in a shortage of both AdoCbl and MeCbl. Without AdoCbl, proteins and lipids are not broken down properly. This defect allows potentially toxic compounds to build up in the body's organs and tissues, causing methylmalonic acidemia. Without MeCbl, homocysteine is not converted to methionine. As a result, homocysteine builds up in the bloodstream and methionine is depleted. Some of the excess homocysteine is excreted in urine (homocystinuria). Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria. Mutations in other genes involved in vitamin B12 processing can cause related conditions. Those mutations that impair only AdoCbl production lead to methylmalonic acidemia, and those that impair only MeCbl production cause homocystinuria.",GHR,methylmalonic acidemia with homocystinuria +Is methylmalonic acidemia with homocystinuria inherited ?,"Methylmalonic acidemia with homocystinuria is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When caused by mutations in the HCFC1 gene, the condition is inherited in an X-linked recessive pattern. The HCFC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.",GHR,methylmalonic acidemia with homocystinuria +What are the treatments for methylmalonic acidemia with homocystinuria ?,"These resources address the diagnosis or management of methylmalonic acidemia with homocystinuria: - Baby's First Test: Methylmalonic Acidemia with Homocystinuria - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,methylmalonic acidemia with homocystinuria +What is (are) benign essential blepharospasm ?,"Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine. The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment. In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.",GHR,benign essential blepharospasm +How many people are affected by benign essential blepharospasm ?,"Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men.",GHR,benign essential blepharospasm +What are the genetic changes related to benign essential blepharospasm ?,"The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at risk. Studies suggest that this condition may be related to other forms of adult-onset dystonia, including uncontrolled twisting of the neck muscles (spasmodic torticollis) and spasms of the hand and finger muscles (writer's cramp). Researchers suspect that benign essential blepharospasm and similar forms of dystonia are associated with malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Although genetic factors are almost certainly involved in benign essential blepharospasm, no genes have been clearly associated with the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and TOR1A genes and the risk of developing benign essential blepharospasm. These studies have had conflicting results, with some showing an association and others finding no connection. Researchers are working to determine which genetic factors are related to this disorder.",GHR,benign essential blepharospasm +Is benign essential blepharospasm inherited ?,"Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family. Less commonly, benign essential blepharospasm has been found to run in families. In some of these families, the condition appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. However, no causative genes have been identified.",GHR,benign essential blepharospasm +What are the treatments for benign essential blepharospasm ?,These resources address the diagnosis or management of benign essential blepharospasm: - Benign Essential Blepharospasm Research Foundation: Botulinum Toxin for Treatment of Blepharospasm - Dystonia Medical Research Foundation: Treatments for dystonia - Genetic Testing Registry: Blepharospasm - MedlinePlus Encyclopedia: Eyelid Twitch These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,benign essential blepharospasm +What is (are) Hennekam syndrome ?,"Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly the vessels that transport lymph fluid to and from the intestines; puffiness or swelling caused by a buildup of fluid (lymphedema); and unusual facial features. Lymphangiectasia often impedes the flow of lymph fluid and can cause the affected vessels to break open (rupture). In the intestines, ruptured vessels can lead to accumulation of lymph fluid, which interferes with the absorption of nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, thyroid gland, the outer covering of the lungs (the pleura), the membrane covering the heart (pericardium), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth and usually affects the face and limbs. Severely affected infants may have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). The lymphedema usually affects one side of the body more severely than the other (asymmetric) and slowly worsens over time. Facial features of people with Hennekam syndrome may include a flattened appearance to the middle of the face and the bridge of the nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the gums (gingival hypertrophy). Affected individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis). Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of the range and some have normal intellect. Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). Abnormalities found in a few individuals with Hennekam syndrome include a moderate to severe shortage of red blood cells (anemia) resulting from an inadequate amount (deficiency) of iron in the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). The signs and symptoms of Hennekam syndrome vary widely among affected individuals, even those within the same family. Life expectancy depends on the severity of the condition and can vary from death in childhood to survival into adulthood.",GHR,Hennekam syndrome +How many people are affected by Hennekam syndrome ?,At least 50 cases of Hennekam syndrome have been reported worldwide.,GHR,Hennekam syndrome +What are the genetic changes related to Hennekam syndrome ?,"Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome. The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels. The function of the protein produced from the FAT4 gene is largely unknown. Research shows that the FAT4 protein may be involved in determining the position of various components within cells (cell polarity). CCBE1 gene mutations that cause Hennekam syndrome change the three-dimensional shape of the protein and severely decrease its function. The abnormal protein cannot play its role in the formation of the lymphatic vessel epithelium. The resulting malformation of lymphatic vessels leads to lymphangiectasia, lymphedema, and other features of Hennekam syndrome. Since the lymphatic system extends throughout the body, a disruption to the vessels can affect almost any organ. Altered lymphatic development before birth may change the balance of fluids and impair normal development, contributing to many of the other signs of Hennekam syndrome such as unusual facial features. FAT4 gene mutations that cause Hennekam syndrome result in a FAT4 protein with decreased function. Reduced FAT4 protein activity seems to impair normal development of the lymphatic system, but the mechanism is unknown. Together, mutations in the CCBE1 and FAT4 genes are responsible for approximately half of all Hennekam syndrome cases. The cause of the remaining cases is unknown.",GHR,Hennekam syndrome +Is Hennekam syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Hennekam syndrome +What are the treatments for Hennekam syndrome ?,These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Hennekam syndrome +What is (are) Perry syndrome ?,"Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease. Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure. People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.",GHR,Perry syndrome +How many people are affected by Perry syndrome ?,Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.,GHR,Perry syndrome +What are the genetic changes related to Perry syndrome ?,"Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain. Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.",GHR,Perry syndrome +Is Perry syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Perry syndrome +What are the treatments for Perry syndrome ?,These resources address the diagnosis or management of Perry syndrome: - Gene Review: Gene Review: Perry Syndrome - Genetic Testing Registry: Perry syndrome - MedlinePlus Encyclopedia: Major Depression - MedlinePlus Encyclopedia: Primary Alveolar Hypoventilation - National Parkinson Foundation: Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Perry syndrome +"What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?","Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood. Almost all individuals with IPEX syndrome develop a disorder of the intestines called enteropathy. Enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia). People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome. The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism). Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.",GHR,"immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome" +"How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?",IPEX syndrome is a rare disorder; its prevalence is unknown.,GHR,"immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome" +"What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?","Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome. About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.",GHR,"immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome" +"Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ?","When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Some people have a condition that appears identical to IPEX syndrome, but they do not have mutations in the FOXP3 gene. The inheritance pattern for this IPEX-like syndrome is unknown, but females can be affected.",GHR,"immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome" +"What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?",These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,"immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome" +What is (are) infantile neuroaxonal dystrophy ?,"Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. They generally have muscles that are at first weak and ""floppy"" (hypotonic), and then gradually become very stiff (spastic). Eventually, affected children lose the ability to move independently. Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children. Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings. Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown.",GHR,infantile neuroaxonal dystrophy +How many people are affected by infantile neuroaxonal dystrophy ?,Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown.,GHR,infantile neuroaxonal dystrophy +What are the genetic changes related to infantile neuroaxonal dystrophy ?,"Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping to keep the cell membrane intact and functioning properly. Specifically, the A2 phospholipase produced from the PLA2G6 gene, sometimes called PLA2 group VI, helps to regulate the levels of a compound called phosphatidylcholine, which is abundant in the cell membrane. Mutations in the PLA2G6 gene impair the function of the PLA2 group VI enzyme, which may disrupt cell membrane maintenance and contribute to the development of spheroid bodies in the nerve axons. Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a similar disorder called pantothenate kinase-associated neurodegeneration. These disorders, as well as the more common Alzheimer disease and Parkinson disease, also are associated with changes in brain iron metabolism. Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder. A few individuals with infantile neuroaxonal dystrophy have not been found to have mutations in the PLA2G6 gene. The genetic cause of the condition in these cases is unknown; there is evidence that at least one other unidentified gene may be involved.",GHR,infantile neuroaxonal dystrophy +Is infantile neuroaxonal dystrophy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,infantile neuroaxonal dystrophy +What are the treatments for infantile neuroaxonal dystrophy ?,These resources address the diagnosis or management of infantile neuroaxonal dystrophy: - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration - Genetic Testing Registry: Infantile neuroaxonal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,infantile neuroaxonal dystrophy +What is (are) ethylmalonic encephalopathy ?,"Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy. The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported.",GHR,ethylmalonic encephalopathy +How many people are affected by ethylmalonic encephalopathy ?,"About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders.",GHR,ethylmalonic encephalopathy +What are the genetic changes related to ethylmalonic encephalopathy ?,"Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however. Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A lack of the ETHE1 enzyme impairs the body's ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy.",GHR,ethylmalonic encephalopathy +Is ethylmalonic encephalopathy inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ethylmalonic encephalopathy +What are the treatments for ethylmalonic encephalopathy ?,These resources address the diagnosis or management of ethylmalonic encephalopathy: - Baby's First Test - Genetic Testing Registry: Ethylmalonic encephalopathy - MedlinePlus Encyclopedia: Skin discoloration - bluish These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ethylmalonic encephalopathy +What is (are) trimethylaminuria ?,"Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.",GHR,trimethylaminuria +How many people are affected by trimethylaminuria ?,Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown.,GHR,trimethylaminuria +What are the genetic changes related to trimethylaminuria ?,"Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soybeans and peas), certain kinds of fish, and other foods. Normally, the FMO3 enzyme converts strong-smelling trimethylamine into another molecule that has no odor. If the enzyme is missing or its activity is reduced because of a mutation in the FMO3 gene, trimethylamine is not processed properly and can build up in the body. As excess trimethylamine is released in a person's sweat, urine, and breath, it causes the odor characteristic of trimethylaminuria. Researchers believe that stress and diet also play a role in triggering symptoms. Although FMO3 gene mutations account for most cases of trimethylaminuria, the condition can also be caused by other factors. The strong body odor may result from an excess of certain proteins in the diet or from an abnormal increase in bacteria that produce trimethylamine in the digestive system. A few cases of the disorder have been identified in adults with liver or kidney disease. Temporary symptoms of this condition have been reported in a small number of premature infants and in some healthy women at the start of menstruation.",GHR,trimethylaminuria +Is trimethylaminuria inherited ?,"Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. Carriers of an FMO3 mutation, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor.",GHR,trimethylaminuria +What are the treatments for trimethylaminuria ?,These resources address the diagnosis or management of trimethylaminuria: - Gene Review: Gene Review: Primary Trimethylaminuria - Genetic Testing Registry: Trimethylaminuria - Monell Chemical Senses Center: TMAU & Body Malodors - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,trimethylaminuria +What is (are) Beare-Stevenson cutis gyrata syndrome ?,"Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability. A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region. Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.",GHR,Beare-Stevenson cutis gyrata syndrome +How many people are affected by Beare-Stevenson cutis gyrata syndrome ?,Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.,GHR,Beare-Stevenson cutis gyrata syndrome +What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ?,"Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development. Some individuals with Beare-Stevenson cutis gyrata syndrome do not have identified mutations in the FGFR2 gene. In these cases, the cause of the condition is unknown.",GHR,Beare-Stevenson cutis gyrata syndrome +Is Beare-Stevenson cutis gyrata syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.",GHR,Beare-Stevenson cutis gyrata syndrome +What are the treatments for Beare-Stevenson cutis gyrata syndrome ?,These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Beare-Stevenson cutis gyrata syndrome +What is (are) leptin receptor deficiency ?,"Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).",GHR,leptin receptor deficiency +How many people are affected by leptin receptor deficiency ?,The prevalence of leptin receptor deficiency is unknown. It has been estimated to account for up to 3 percent of individuals with severe obesity and hyperphagia that begins in early childhood.,GHR,leptin receptor deficiency +What are the genetic changes related to leptin receptor deficiency ?,"Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. The leptin receptor is turned on (activated) by a hormone called leptin that attaches (binds) to the receptor, fitting into it like a key into a lock. Normally, the body's fat cells release leptin in proportion to their size. As fat cells become larger, they produce more leptin. This rise in leptin indicates that fat stores are increasing. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety). LEPR gene mutations that cause leptin receptor deficiency prevent the receptor from responding to leptin, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency, researchers suggest that leptin receptor signaling is also involved in regulating the body's response to hormones that control sexual development, and that this response is affected by LEPR gene mutations. However, the mechanism of this effect is unknown. Leptin receptor deficiency is a rare cause of obesity. Researchers are studying the factors involved in more common forms of obesity.",GHR,leptin receptor deficiency +Is leptin receptor deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,leptin receptor deficiency +What are the treatments for leptin receptor deficiency ?,"These resources address the diagnosis or management of leptin receptor deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Leptin receptor deficiency - Genetics of Obesity Study - National Heart, Lung, and Blood Institute: How Are Overweight and Obesity Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,leptin receptor deficiency +What is (are) autosomal dominant partial epilepsy with auditory features ?,"Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. Some people with ADPEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms affecting the senses. Seizures associated with ADPEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication. Most people with ADPEAF have seizures described as simple partial seizures, which do not cause a loss of consciousness. These seizures are thought to begin in a part of the brain called the lateral temporal lobe. In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.",GHR,autosomal dominant partial epilepsy with auditory features +How many people are affected by autosomal dominant partial epilepsy with auditory features ?,"This condition appears to be uncommon, although its prevalence is unknown.",GHR,autosomal dominant partial epilepsy with auditory features +What are the genetic changes related to autosomal dominant partial epilepsy with auditory features ?,"Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain. Mutations in the LGI1 gene likely disrupt the function of epitempin. It is unclear how the altered protein leads to seizure activity in the brain. LGI1 mutations have been identified in about half of all families diagnosed with ADPEAF. In the remaining families, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie the condition.",GHR,autosomal dominant partial epilepsy with auditory features +Is autosomal dominant partial epilepsy with auditory features inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent and other relatives with the condition.",GHR,autosomal dominant partial epilepsy with auditory features +What are the treatments for autosomal dominant partial epilepsy with auditory features ?,"These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encyclopedia: Partial (Focal) Seizure - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,autosomal dominant partial epilepsy with auditory features +What is (are) familial cold autoinflammatory syndrome ?,"Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days. In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur. In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.",GHR,familial cold autoinflammatory syndrome +How many people are affected by familial cold autoinflammatory syndrome ?,"Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people.",GHR,familial cold autoinflammatory syndrome +What are the genetic changes related to familial cold autoinflammatory syndrome ?,"Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. Cryopyrin and monarch-1 belong to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps start the inflammatory process. Mutations in the NLRP3 gene result in a hyperactive cryopyrin protein that inappropriately triggers an inflammatory response. Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 gene appear to reduce the ability of the monarch-1 protein to inhibit inflammation. Impairment of the body's mechanisms for controlling inflammation results in the episodes of skin rash, fever, and joint pain seen in familial cold autoinflammatory syndrome. It is unclear why episodes are triggered by cold exposure in this disorder.",GHR,familial cold autoinflammatory syndrome +Is familial cold autoinflammatory syndrome inherited ?,This condition is inherited in an autosomal dominant pattern from an affected parent; one copy of the altered gene in each cell is sufficient to cause the disorder.,GHR,familial cold autoinflammatory syndrome +What are the treatments for familial cold autoinflammatory syndrome ?,These resources address the diagnosis or management of familial cold autoinflammatory syndrome: - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2 - Genetic Testing Registry: Familial cold urticaria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,familial cold autoinflammatory syndrome +What is (are) Tangier disease ?,"Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as ""good cholesterol"" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.",GHR,Tangier disease +How many people are affected by Tangier disease ?,Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.,GHR,Tangier disease +What are the genetic changes related to Tangier disease ?,"Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease.",GHR,Tangier disease +Is Tangier disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Tangier disease +What are the treatments for Tangier disease ?,These resources address the diagnosis or management of Tangier disease: - Genetic Testing Registry: Tangier disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Tangier disease +What is (are) hereditary spherocytosis ?,"Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood. There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form. People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.",GHR,hereditary spherocytosis +How many people are affected by hereditary spherocytosis ?,"Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common.",GHR,hereditary spherocytosis +What are the genetic changes related to hereditary spherocytosis ?,"Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure. Some of these proteins allow for cell flexibility; red blood cells have to be flexible to travel from the large blood vessels (arteries) to the smaller blood vessels (capillaries). The proteins allow the cell to change shape without breaking when passing through narrow capillaries. Mutations in red blood cell membrane proteins result in an overly rigid, misshapen cell. Instead of a flattened disc shape, these cells are spherical. Dysfunctional membrane proteins interfere with the cell's ability to change shape when traveling through the blood vessels. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis. Mutations in the ANK1 gene are responsible for approximately half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis each account for a smaller percentage of cases of this condition.",GHR,hereditary spherocytosis +Is hereditary spherocytosis inherited ?,"In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,hereditary spherocytosis +What are the treatments for hereditary spherocytosis ?,"These resources address the diagnosis or management of hereditary spherocytosis: - Genetic Testing Registry: Hereditary spherocytosis - Genetic Testing Registry: Spherocytosis type 2 - Genetic Testing Registry: Spherocytosis type 3 - Genetic Testing Registry: Spherocytosis type 4 - Genetic Testing Registry: Spherocytosis type 5 - Genetic Testing Registry: Spherocytosis, type 1, autosomal recessive - Seattle Children's Hospital: Hereditary Spherocytosis Treatment Options These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,hereditary spherocytosis +What is (are) ulcerative colitis ?,"Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface of the rectum and colon, which make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between ages 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout life, which causes recurring signs and symptoms. The most common symptoms of ulcerative colitis are abdominal pain and cramping and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation. Toxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves widening of the colon and an overwhelming bacterial infection (sepsis). Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in people who have had ulcerative colitis for 8 or more years. Ulcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.",GHR,ulcerative colitis +How many people are affected by ulcerative colitis ?,"Ulcerative colitis is most common in North America and Western Europe; however the prevalence is increasing in other regions. In North America, ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is estimated that more than 750,000 North Americans are affected by this disorder. Ulcerative colitis is more common in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other ethnic backgrounds.",GHR,ulcerative colitis +What are the genetic changes related to ulcerative colitis ?,"A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis. Recent studies have identified variations in dozens of genes that may be linked to ulcerative colitis; however, the role of these variations is not completely understood. Researchers speculate that this condition may result from changes in the intestinal lining's protective function or an abnormal immune response to the normal bacteria in the digestive tract, both of which may be influenced by genetic variations. Several of the genes that may be associated with ulcerative colitis are involved in the protective function of the intestines. The inner surface of the intestines provides a barrier that protects the body's tissues from the bacteria that live in the intestines and from toxins that pass through the digestive tract. Researchers speculate that a breakdown of this barrier allows contact between the intestinal tissue and the bacteria and toxins, which can trigger an immune reaction. This immune response may lead to chronic inflammation and the digestive problems characteristic of ulcerative colitis. Other possible disease-associated genes are involved in the immune system, particularly in the maturation and function of immune cells called T cells. T cells identify foreign substances and defend the body against infection. Certain genetic variations may make some individuals more prone to an overactive immune response to the bacteria and other microbes in the intestines, which may cause the chronic inflammation that occurs in ulcerative colitis. Another possible explanation is that ulcerative colitis occurs when the immune system malfunctions and attacks the cells of the intestines, causing inflammation.",GHR,ulcerative colitis +Is ulcerative colitis inherited ?,"The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition.",GHR,ulcerative colitis +What are the treatments for ulcerative colitis ?,These resources address the diagnosis or management of ulcerative colitis: - American Society of Colon and Rectal Surgeons - Cedars-Sinai - Crohn's & Colitis Foundation of America: Colitis Diagnosis and Testing - Crohn's & Colitis Foundation of America: Colitis Treatment Options - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Ulcerative Colitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ulcerative colitis +What is (are) DOORS syndrome ?,"DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). ""DOORS"" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features. Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder. The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs). The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur. Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated.",GHR,DOORS syndrome +How many people are affected by DOORS syndrome ?,DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature.,GHR,DOORS syndrome +What are the genetic changes related to DOORS syndrome ?,"DOORS syndrome can be caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. Research suggests that the TBC1D24 protein may also help cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells. Studies indicate that the TBC1D24 protein is active in a variety of organs and tissues; it is particularly active in the brain and likely plays an important role in normal brain development. The TBC1D24 protein is also active in specialized structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound waves, which is critical for converting sound waves to nerve impulses. TBC1D24 gene mutations that cause DOORS syndrome are thought to reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the signs and symptoms of DOORS syndrome is not well understood. In about half of affected individuals, no TBC1D24 gene mutation has been identified. The cause of DOORS syndrome in these individuals is unknown.",GHR,DOORS syndrome +Is DOORS syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,DOORS syndrome +What are the treatments for DOORS syndrome ?,These resources address the diagnosis or management of DOORS syndrome: - Gene Review: Gene Review: TBC1D24-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,DOORS syndrome +What is (are) Russell-Silver syndrome ?,"Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches). Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development and learning disabilities.",GHR,Russell-Silver syndrome +How many people are affected by Russell-Silver syndrome ?,"The exact incidence of Russell-Silver syndrome is unknown, but the condition is estimated to affect 1 in 75,000 to 100,000 people.",GHR,Russell-Silver syndrome +What are the genetic changes related to Russell-Silver syndrome ?,"The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. People normally inherit one copy of each chromosome from their mother and one copy from their father. For most genes, both copies are expressed, or ""turned on,"" in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternal copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Both chromosome 7 and chromosome 11 contain groups of genes that normally undergo genomic imprinting. Abnormalities involving these genes appear to be responsible for many cases of Russell-Silver syndrome. Researchers suspect that at least one third of all cases of Russell-Silver syndrome result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Russell-Silver syndrome has been associated with changes in methylation involving the H19 and IGF2 genes, which are located near one another on chromosome 11. These genes are thought to be involved in directing normal growth. A loss of methylation disrupts the regulation of these genes, which leads to slow growth and the other characteristic features of this disorder. Abnormalities involving genes on chromosome 7 also cause Russell-Silver syndrome. In 7 percent to 10 percent of cases, people inherit both copies of chromosome 7 from their mother instead of one copy from each parent. This phenomenon is called maternal uniparental disomy (UPD). Maternal UPD causes people to have two active copies of maternally expressed imprinted genes rather than one active copy from the mother and one inactive copy from the father. These individuals do not have a paternal copy of chromosome 7 and therefore do not have any copies of genes that are active only on the paternal copy. In cases of Russell-Silver syndrome caused by maternal UPD, an imbalance in active paternal and maternal genes on chromosome 7 underlies the signs and symptoms of the disorder. In at least 40 percent of people with Russell-Silver syndrome, the cause of the condition is unknown. It is possible that changes in chromosomes other than 7 and 11 may play a role. Researchers are working to identify additional genetic changes that underlie this disorder.",GHR,Russell-Silver syndrome +Is Russell-Silver syndrome inherited ?,"Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of a genetic change in each cell is sufficient to cause the disorder. In other families, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of a gene are altered in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Russell-Silver syndrome +What are the treatments for Russell-Silver syndrome ?,These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Russell-Silver syndrome +What is (are) isolated Pierre Robin sequence ?,"Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a ""sequence"" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate. The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and these individuals have normal-sized chins. Some people have Pierre Robin sequence as part of a syndrome that affects other organs and tissues in the body, such as campomelic dysplasia or Stickler syndrome. These instances are described as syndromic. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated.",GHR,isolated Pierre Robin sequence +How many people are affected by isolated Pierre Robin sequence ?,"Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people.",GHR,isolated Pierre Robin sequence +What are the genetic changes related to isolated Pierre Robin sequence ?,"Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible. The genetic changes associated with isolated Pierre Robin sequence occur near the SOX9 gene. These abnormalities are thought to disrupt regions of DNA called enhancers that normally regulate the activity of the SOX9 gene, reducing SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis and cleft palate.",GHR,isolated Pierre Robin sequence +Is isolated Pierre Robin sequence inherited ?,"Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to cause the disorder.",GHR,isolated Pierre Robin sequence +What are the treatments for isolated Pierre Robin sequence ?,These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,isolated Pierre Robin sequence +What is (are) type A insulin resistance syndrome ?,"Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high. Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight. The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood sugar (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood. Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.",GHR,type A insulin resistance syndrome +How many people are affected by type A insulin resistance syndrome ?,"Type A insulin resistance syndrome is estimated to affect about 1 in 100,000 people worldwide. Because females have more health problems associated with the condition, it is diagnosed more often in females than in males.",GHR,type A insulin resistance syndrome +What are the genetic changes related to type A insulin resistance syndrome ?,"Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. Most of the INSR gene mutations that cause type A insulin resistance syndrome lead to the production of a faulty insulin receptor that cannot transmit signals properly. Although insulin is present in the bloodstream, the defective receptors make it less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and leads to diabetes mellitus. In females with type A insulin resistance syndrome, excess insulin in the bloodstream interacts with hormonal factors during adolescence to cause abnormalities of the menstrual cycle, ovarian cysts, and other features of the disorder. This condition is designated as type A to distinguish it from type B insulin resistance syndrome. Although the two disorders have similar signs and symptoms, type B is not caused by INSR gene mutations; instead, it results from an abnormality of the immune system that blocks insulin receptor function.",GHR,type A insulin resistance syndrome +Is type A insulin resistance syndrome inherited ?,"Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,type A insulin resistance syndrome +What are the treatments for type A insulin resistance syndrome ?,These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,type A insulin resistance syndrome +What is (are) Gillespie syndrome ?,"Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only part of the iris is missing (partial aniridia) in both eyes, but in some affected individuals, partial aniridia affects only one eye, or the entire iris is missing (complete aniridia) in one or both eyes. The absence of all or part of the iris can cause blurry vision (reduced visual acuity) and increased sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome. The balance and movement problems in Gillespie syndrome result from underdevelopment (hypoplasia) of a part of the brain called the cerebellum. This abnormality can cause delayed development of motor skills such as walking. In addition, difficulty controlling the muscles in the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue to have an unsteady gait and speech problems. However, the problems do not get worse over time, and in some cases they improve slightly. Other features of Gillespie syndrome can include abnormalities in the bones of the spine (vertebrae) and malformations of the heart.",GHR,Gillespie syndrome +How many people are affected by Gillespie syndrome ?,The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia.,GHR,Gillespie syndrome +What are the genetic changes related to Gillespie syndrome ?,"Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Mutations in the PAX6 gene result in the absence of the PAX6 protein or production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. This lack of functional protein disrupts embryonic development, especially the development of the eyes and brain, leading to the signs and symptoms of Gillespie syndrome. Most people with Gillespie syndrome do not have mutations in the PAX6 gene. In these affected individuals, the cause of the disorder is unknown.",GHR,Gillespie syndrome +Is Gillespie syndrome inherited ?,"In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,Gillespie syndrome +What are the treatments for Gillespie syndrome ?,"These resources address the diagnosis or management of Gillespie syndrome: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Aniridia, cerebellar ataxia, and mental retardation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",GHR,Gillespie syndrome +What is (are) Aicardi-Goutieres syndrome ?,"Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. While this combination of signs and symptoms is typically associated with the immune system's response to congenital viral infection, no actual infection is found in these infants. For this reason, Aicardi-Goutieres syndrome is sometimes referred to as a ""mimic of congenital infection."" Within the first year of life most individuals with Aicardi-Goutieres syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system. The encephalopathic phase of Aicardi-Goutieres syndrome leaves behind permanent neurological damage that is usually severe. Medical imaging reveals deterioration of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that insulates and protects nerves. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. Most people with Aicardi-Goutieres syndrome have profound intellectual disability. They also have significant neuromuscular problems including muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the trunk. About 40 percent of people with Aicardi-Goutieres syndrome have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers may also occur in this disorder. As a result of the severe neurological problems usually associated with Aicardi-Goutieres syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who have later onset and milder neurological problems may live into adulthood.",GHR,Aicardi-Goutieres syndrome +How many people are affected by Aicardi-Goutieres syndrome ?,Aicardi-Goutieres syndrome is a rare disorder. Its exact prevalence is unknown.,GHR,Aicardi-Goutieres syndrome +What are the genetic changes related to Aicardi-Goutieres syndrome ?,"Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutations in any of these genes are believed to result in an absent or dysfunctional nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for that of viral invaders, triggering immune system reactions that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome. The SAMHD1 gene provides instructions for making a protein whose function is not well understood; however, it is believed to be involved in the immune system and the inflammatory process. Mutations in this gene likely result in a protein that does not function properly, resulting in immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.",GHR,Aicardi-Goutieres syndrome +Is Aicardi-Goutieres syndrome inherited ?,"Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Rarely, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",GHR,Aicardi-Goutieres syndrome +What are the treatments for Aicardi-Goutieres syndrome ?,These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome 1 - Genetic Testing Registry: Aicardi Goutieres syndrome 2 - Genetic Testing Registry: Aicardi Goutieres syndrome 3 - Genetic Testing Registry: Aicardi Goutieres syndrome 4 - Genetic Testing Registry: Aicardi Goutieres syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Aicardi-Goutieres syndrome +What is (are) ALG6-congenital disorder of glycosylation ?,"ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay. People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty.",GHR,ALG6-congenital disorder of glycosylation +How many people are affected by ALG6-congenital disorder of glycosylation ?,"The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature.",GHR,ALG6-congenital disorder of glycosylation +What are the genetic changes related to ALG6-congenital disorder of glycosylation ?,"ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. Glycosylation modifies proteins and fats so they can perform a wider variety of functions. The enzyme produced from the ALG6 gene transfers a simple sugar called glucose to the growing oligosaccharide. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or fat. ALG6 gene mutations lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. As a result, glycosylation is reduced or absent. The wide variety of signs and symptoms in ALG6-CDG are likely due to impaired glycosylation of proteins and fats that are needed for normal function in many organs and tissues, including the brain, eyes, liver, and hormone-producing (endocrine) system.",GHR,ALG6-congenital disorder of glycosylation +Is ALG6-congenital disorder of glycosylation inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,ALG6-congenital disorder of glycosylation +What are the treatments for ALG6-congenital disorder of glycosylation ?,These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,ALG6-congenital disorder of glycosylation +What is (are) Gilbert syndrome ?,"Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.",GHR,Gilbert syndrome +How many people are affected by Gilbert syndrome ?,Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans.,GHR,Gilbert syndrome +What are the genetic changes related to Gilbert syndrome ?,"Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. During this reaction, the enzyme transfers a compound called glucuronic acid to unconjugated bilirubin, converting it to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body. Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. However, this change is uncommon in Asian populations, and affected Asians often have a mutation that changes a single protein building block (amino acid) in the bilirubin-UGT enzyme. This type of mutation, known as a missense mutation, results in reduced enzyme function. People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function. As a result, unconjugated bilirubin is not glucuronidated quickly enough. This toxic substance then builds up in the body, causing mild hyperbilirubinemia. Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition. For example, red blood cells may break down too easily, releasing excess amounts of bilirubin that the impaired enzyme cannot keep up with. Alternatively, movement of bilirubin into the liver, where it would be glucuronidated, may be impaired. These other factors may be due to changes in other genes.",GHR,Gilbert syndrome +Is Gilbert syndrome inherited ?,"Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When the condition is caused by a missense mutation in the UGT1A1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. A more severe condition known as Crigler-Najjar syndrome occurs when both copies of the UGT1A1 gene have mutations.",GHR,Gilbert syndrome +What are the treatments for Gilbert syndrome ?,These resources address the diagnosis or management of Gilbert syndrome: - Genetic Testing Registry: Gilbert's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Gilbert syndrome +What is (are) frontotemporal dementia with parkinsonism-17 ?,"Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more. Changes in personality and behavior are often early signs of FTDP-17. These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, and a general loss of interest in activities and events. The disease also leads to deterioration of cognitive functions (dementia), including problems with judgment, planning, and concentration. Some people with FTDP-17 develop psychiatric symptoms, including obsessive-compulsive behaviors, delusions, and hallucinations. It may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living. Many people with FTDP-17 develop problems with speech and language. They may have trouble finding words, confuse one word with another (semantic paraphasias), and repeat words spoken by others (echolalia). Difficulties with speech and language worsen over time, and most affected individuals eventually lose the ability to communicate. FTDP-17 is also characterized by progressive problems with movement. Many affected individuals develop features of parkinsonism, including tremors, rigidity, and unusually slow movement (bradykinesia). As the disease progresses, most affected individuals become unable to walk. Some people with FTDP-17 also have restricted up-and-down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades).",GHR,frontotemporal dementia with parkinsonism-17 +How many people are affected by frontotemporal dementia with parkinsonism-17 ?,"The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where the disease prevalence has been studied, it is estimated to affect 1 in 1 million people. However, the disorder is likely underdiagnosed, so it may actually be more common than this. FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia.",GHR,frontotemporal dementia with parkinsonism-17 +What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ?,"FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Mutations in the MAPT gene disrupt the normal structure and function of tau. The defective protein assembles into abnormal clumps within neurons and other brain cells. However, it is unclear what effect these clumps have on cell function and survival. FTDP-17 is characterized by the gradual death of cells in areas of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. A loss of cells in these brain regions leads to personality changes, speech difficulties, and the other features of FTDP-17. FTDP-17 is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.",GHR,frontotemporal dementia with parkinsonism-17 +Is frontotemporal dementia with parkinsonism-17 inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",GHR,frontotemporal dementia with parkinsonism-17 +What are the treatments for frontotemporal dementia with parkinsonism-17 ?,These resources address the diagnosis or management of FTDP-17: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,frontotemporal dementia with parkinsonism-17 +What is (are) mitochondrial trifunctional protein deficiency ?,"Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.",GHR,mitochondrial trifunctional protein deficiency +How many people are affected by mitochondrial trifunctional protein deficiency ?,Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.,GHR,mitochondrial trifunctional protein deficiency +What are the genetic changes related to mitochondrial trifunctional protein deficiency ?,"Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. Without enough of this enzyme complex, long-chain fatty acids from food and body fat cannot be metabolized and processed. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency.",GHR,mitochondrial trifunctional protein deficiency +Is mitochondrial trifunctional protein deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",GHR,mitochondrial trifunctional protein deficiency +What are the treatments for mitochondrial trifunctional protein deficiency ?,These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency: - Baby's First Test - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,mitochondrial trifunctional protein deficiency +What is (are) Leydig cell hypoplasia ?,"Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia). In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.",GHR,Leydig cell hypoplasia +How many people are affected by Leydig cell hypoplasia ?,Leydig cell hypoplasia is a rare disorder; its prevalence is unknown.,GHR,Leydig cell hypoplasia +What are the genetic changes related to Leydig cell hypoplasia ?,"Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovary (ovulation). Chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue. The LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia, and mutations that allow some receptor protein function cause milder signs and symptoms.",GHR,Leydig cell hypoplasia +Is Leydig cell hypoplasia inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).",GHR,Leydig cell hypoplasia +What are the treatments for Leydig cell hypoplasia ?,These resources address the diagnosis or management of Leydig cell hypoplasia: - Genetic Testing Registry: Leydig cell agenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,GHR,Leydig cell hypoplasia +What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?,"Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis. + +In the past, health care providers used the term renal osteodystrophy to describe mineral and hormone disturbances caused by kidney disease. Today, renal osteodystrophy only describes bone problems that result from mineral and bone disorder in CKD. Health care providers might use the phrase chronic kidney disease mineral and bone disorder, or CKD-MBD, to describe the condition that affects the bones, heart, and blood vessels.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?,"Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. This damage can cause wastes to build up in the body and other problems that can harm a persons health, including mineral and bone disorder.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What causes Mineral and Bone Disorder in Chronic Kidney Disease ?,"Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys + +- stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood. - do not remove the phosphorus in the blood properly, so phosphorus levels rise in the blood. The extra phosphorus pulls calcium out of the bones, causing them to weaken. + +Another factor contributes to the cause of mineral and bone disorder. When the kidneys are damaged, the parathyroid gland releases parathyroid hormone into the blood to pull calcium from the bones and raise blood calcium levels. This response restores the balance of phosphorus and calcium; however, it also starves the bones of much-needed calcium.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What are the symptoms of Mineral and Bone Disorder in Chronic Kidney Disease ?,"In adults, symptoms of mineral and bone disorder in CKD may not appear until bone changes have taken place for many years. For this reason, people often refer to the disease as a silent crippler. Eventually, a person with the condition may begin to feel bone and joint pain. + + + +Mineral and Bone Disorder in Children with Chronic Kidney Disease Mineral and bone disorder in CKD is most serious when it occurs in children because their bones are still developing and growing. Growing children can show symptoms of mineral and bone disorder even in the early stages of CKD. Slowed bone growth leads to short stature, which may remain with a child into adulthood. One deformity caused by mineral and bone disorder in CKD occurs when the legs bend inward or outward, a condition often referred to as ""renal rickets."" More information is provided in the NIDDK health topic, Growth Failure in Children with Kidney Disease. Find more about childrens bone health on the Eunice Kennedy Shriver National Institute of Child Health and Human Development website at www.nichd.nih.gov.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ?,"The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems. + +Slowed Bone Growth and Deformities + +Damaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in the following series of events: + +- When a persons blood calcium level becomes too low, the parathyroid glands release parathyroid hormone. - Parathyroid hormone removes calcium from bones and places it into the blood, raising a persons blood calcium level at the risk of harming bones. - A low calcitriol level also leads to an increased level of parathyroid hormone. + +If mineral and bone disorder in CKD remains untreated in adults, bones gradually become thin and weak, and a person with the condition may begin to feel bone and joint pain. Mineral and bone disorder in CKD also increases a persons risk of bone fractures. + +Heart and Blood Vessel Problems + +In addition to harming bones, mineral and bone disorder in CKD can cause problems in the heart and blood vessels: + +- High levels of blood calcium can damage blood vessels and lead to heart problems. - High phosphorus levels also can cause blood vessels to become like bone, leading to hardening of the arteries. - High phosphorus levels also cause abnormal hormone regulation, even if the calcium level is acceptable. + +Parathyroid hormone and another hormone made in the bones called FGF23 can also affect bone and heart health, leading to the following series of problems: + +- When parathyroid hormone or FGF23 levels are high, a person can have heart problems. - The complex hormone abnormalities that cause bone deformities can also harm a persons heart and blood vessels.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +How to diagnose Mineral and Bone Disorder in Chronic Kidney Disease ?,"A health care provider diagnoses mineral and bone disorder in CKD with + +- a family and medical history - a physical exam - a blood test - a bone biopsy - an x-ray + +Family and Medical History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose mineral and bone disorder in CKD. He or she will ask the patient or caretaker questions about when the patient was first diagnosed with CKD and whether any family members have also had mineral and bone disorder with or without CKD. + +Physical Exam + +A physical exam may help diagnose mineral and bone disorder in CKD. During a physical exam, a health care provider usually examines a patients body for changes in bone structure. + +Blood Test + +A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test shows levels of calcium, phosphorus, parathyroid hormone, and sometimes vitamin D. + +Bone Biopsy + +A bone biopsy is a procedure that removes a piece of bone tissue for examination with a microscope. A health care provider performs the biopsy in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the hip bone. A pathologista doctor who specializes in diagnosing diseasesexamines the bone tissue in a lab. The test can show whether a persons bone cells are building normal bone. + +X-ray + +An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. A radiographer performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. Patients do not need anesthesia. The patient will lie on a table or stand during the x-ray. The technician will position the x-ray machine over the bone area. The patient will hold his or her breath as the x-ray machine takes the picture so that the picture will not be blurry. The radiographer may ask the patient to change position for additional pictures. An x-ray can show extra calcium in blood vessels. + +Each of these tests can help the health care provider determine whether CKD or some other condition is causing the mineral and bone disorder and decide on a course of treatment.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What are the treatments for Mineral and Bone Disorder in Chronic Kidney Disease ?,"Treating mineral and bone disorder in CKD includes preventing damage to bones by controlling parathyroid hormone levels through changes in eating, diet, and nutrition; medications and supplements; and dialysis. If these treatments do not bring parathyroid hormone levels under control, a health care provider may remove a persons parathyroid glands surgically, a procedure called a parathyroidectomy. + +Eating, Diet, and Nutrition + +Changes in diet can treat mineral and bone disorder in CKD. Reducing dietary intake of phosphorus is one of the most important steps in preventing bone disease. Most foods contain phosphorus; however, processed and packaged foods contain especially high levels of phosphorus. Food producers use phosphorus as an additive to preserve the food on the shelf. People who have CKD or are on dialysis should avoid packaged foods containing ingredients that include the letters PHOS. A renal dietitian can help develop a dietary plan to control phosphorus levels in the blood. Some drinks and natural foods also contain high amounts of phosphorus, including + +- beer - cheese - cocoa - dark sodas - dried beans - milk - nuts - peanut butter - peas + +More information is provided in the NIDDK health topics, How To Read a Food Label: Tips for People with Chronic Kidney Disease and Phosphorus: Tips for People with Chronic Kidney Disease. + +Medications and Supplements + +Medications protect the bones by restoring the proper balance of minerals and hormones. If the kidneys do not make adequate amounts of calcitriol, a health care provider may prescribe synthetic calcitriol as a pill (Rocaltrol) or, for dialysis patients, in an injectable form (Calcijex). Calcitriol helps reduce parathyroid hormone levels. Medications called doxercalciferol (Hectorol) and paricalcitol (Zemplar) act like calcitriol because they are also activated forms of vitamin D. A health care provider may prescribe a calcium supplement in addition to calcitriol or another activated form of vitamin D. + +Certain forms of vitamin Davailable by prescription or as over-the-counter vitamin supplementsrequire activation by a persons kidneys before they can act as calcitriol does. However, the benefits of some of these not-yet-activated forms of vitamin Dfor example, ergocalciferol (Calciferol, Drisdol) or cholecalciferol (Delta D3)are unclear. To help ensure coordinated and safe care, people should discuss their use of alternative medications, including use of vitamin and mineral supplements, with their health care provider. + +Cinacalcet hydrochloride (Sensipar) belongs to another class of prescription medications called calcimimetics. Cinacalcet lowers parathyroid hormone levels by imitating calciums effects on the parathyroid gland. Generally, this medication is used only in people on dialysis. + +Often, health care providers will prescribe medications called phosphate binderssuch as calcium carbonate (Tums), calcium acetate (PhosLo), sevelamer carbonate (Renvela), or lanthanum carbonate (Fosrenol)to take with meals and snacks to bind phosphorus in the bowel. These medications decrease the absorption of phosphorus into the blood. + +Dialysis + +Dialysis is the process of filtering wastes and extra fluid from the body by means other than the kidneys. The two forms of dialysis are hemodialysis and peritoneal dialysis: + +- Hemodialysis uses a machine to circulate a persons blood through a filter outside the body. The blood passes from a patients body through a needle, at nearly 1 pint per minute. The blood then travels through a tube that takes it to the filter, called a dialyzer. Inside the dialyzer, the blood flows through thin fibers that filter out wastes and extra fluid. After the machine filters the blood, it passes back to the body through another tube. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Hemodialysis. - Peritoneal dialysis uses the lining of the abdomen to filter a persons blood inside the body. A soft tube called a catheter is placed in the patients abdomen a few weeks before peritoneal dialysis begins. A person uses the catheter to fill the empty space inside the abdomen with dialysis solutiona kind of salty waterfrom a plastic bag. While inside the body, the dialysis solution absorbs wastes and extra fluid. After a few hours, the person drains the used dialysis solution into another bag for disposal. The person then restarts the process with a fresh bag of dialysis solution. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Peritoneal Dialysis. + +Increasing a persons dialysis dose can help control the blood phosphorus level. In hemodialysis, the health care provider can adjust the dose by increasing how quickly the blood flows to and from the dialyzer. Another way to adjust the dose involves increasing the time of a persons dialysis session or the number of sessions. In peritoneal dialysis, using more dialysis solution in each fill or increasing the number of fills each day increases the dose. More information is provided in the NIDDK health topics: + +- Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy + +Parathyroidectomy + +If diet, medications, and dialysis cant control parathyroid hormone levels, a surgeon can remove one or more of the parathyroid glands. He or she performs the procedure using general anesthesia. + +A good treatment program, including a low-phosphorus diet, appropriate medications, adequate dialysis, and, if necessary, surgery, can improve the bodys ability to repair bones damaged by mineral and bone disorder in CKD. Overall, people can improve their bone health by exercising and not smoking. People should consult a health care provider before beginning any exercise program.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What to do for Mineral and Bone Disorder in Chronic Kidney Disease ?,"- Mineral and bone disorder in chronic kidney disease (CKD) occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis. - Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. - Hormones and minerals are important because they help bones stay strong. If a persons hormones and minerals are out of balance, his or her bones can become weak and malformed. - Parathyroid hormone plays an important role in controlling calcium levels in the blood. When kidneys do not function properly, extra parathyroid hormone is released in the blood to move calcium from inside the bones into the blood. - Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys stop activating calcitriol and do not remove the phosphorus in the blood properly. - The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems. - Treating mineral and bone disorder in CKD includes preventing damage to bones by controlling parathyroid hormone levels through changes in eating, diet, and nutrition; medications and supplements; and dialysis. - Reducing dietary intake of phosphorus is one of the most important steps in preventing bone disease. - If diet, medications, and dialysis cant control parathyroid hormone levels, a surgeon can remove one or more of the parathyroid glands.",NIDDK,Mineral and Bone Disorder in Chronic Kidney Disease +What is (are) Urinary Incontinence in Children ?,"Urinary incontinence is the loss of bladder control, which results in the accidental loss of urine. A child with UI may not stay dry during the day or night. Some UI is caused by a health problem such as + +- a urinary tract infection (UTI) - diabetes, a condition where blood glucose, also called blood sugar, is too high - kidney problems - nerve problems - constipation, a condition in which a child has fewer than two bowel movements a week and stools can be hard, dry, small, and difficult to pass - obstructive sleep apnea (OSA), a condition in which breathing is interrupted during sleep, often because of inflamed or enlarged tonsils - a structural problem in the urinary tract + +Most of the time, the exact cause of UI is not known, but it is often the result of more than one factor. + +Although UI affects many children, it usually disappears naturally over time. UI after age 3the age when most children achieve daytime drynessmay cause great distress and embarrassment. Many children experience occasional UI, and treatment is available for most children who have a hard time controlling their bladder. Thus, caregivers of children who wet the bed or have accidents during the day should approach this problem with understanding and patience. + +The age at which children achieve dryness varies. Wetting in younger children is common and not considered UI, so daytime UI is not usually diagnosed until age 5 or 6, and nighttime UI is not usually diagnosed until age 7. + +Enuresis Urinary incontinence is also called enuresis. Types of enuresis include the following: - Primary enuresis is wetting in a child who has never been consistently dry. - Secondary enuresis is wetting that begins after at least 6 months of dryness. - Nocturnal enuresis is wetting that usually occurs during sleep, also called nighttime UI. - Diurnal enuresis is wetting when awake, also called daytime UI.",NIDDK,Urinary Incontinence in Children +How many people are affected by Urinary Incontinence in Children ?,"By 5 years of age, more than 90 percent of children can control urination during the day. Nighttime wetting is more common than daytime wetting in children, affecting 30 percent of 4-year-olds. The condition resolves itself in about 15 percent of children each year; about 10 percent of 7-year-olds, 3 percent of 12-year-olds, and 1 percent of 18-year-olds continue to experience nighttime wetting.1",NIDDK,Urinary Incontinence in Children +What causes Urinary Incontinence in Children ?,"The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases probably result from a mix of factors including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), OSA, and anxiety. Children also may inherit genes from one or both parents that make them more likely to have nighttime UI. + +Slower Physical Development + +Between the ages of 5 and 10, bedwetting may be the result of a small bladder capacity, long sleeping periods, and underdevelopment of the bodys alarms that signal a full or emptying bladder. This form of UI fades away as the bladder grows and the natural alarms become operational. + +Overproduction of Urine at Night + +The body produces antidiuretic hormone (ADH), a natural chemical that slows down the production of urine. More ADH is produced at night so the need to urinate lessens. If the body does not produce enough ADH at night, the production of urine may not slow down, leading to bladder overfilling. If a child does not sense the bladder filling and awaken to urinate, wetting will occur. + +Structural Problems + +A small number of UI cases are caused by physical problems in the urinary tract. Rarely, a blocked bladder or urethra may cause the bladder to overfill and leak. Nerve damage associated with the birth defect spina bifida can cause UI. In these cases, UI can appear as a constant dribbling of urine. + +Attention Deficit Hyperactivity Disorder + +Children with ADHD are three times more likely to have nighttime UI than children without ADHD.2 The connection between ADHD and bedwetting has not been explained, but some experts theorize that both conditions are related to delays in central nervous system development. + +Obstructive Sleep Apnea + +Nighttime UI may be one sign of OSA. Other symptoms of OSA include snoring, mouth breathing, frequent ear and sinus infections, sore throat, choking, and daytime drowsiness. Experts believe that when the airway in people with OSA closes, a chemical may be released in the body that increases water production and inhibits the systems that regulate fluid volume. Successful treatment of OSA often resolves the associated nighttime UI. + +Anxiety + +Anxiety-causing events that occur between 2 and 4 years of agebefore total bladder control is achievedmight lead to primary enuresis. Anxiety experienced after age 4 might lead to secondary enuresis in children who have been dry for at least 6 months. Events that cause anxiety in children include physical or sexual abuse; unfamiliar social situations, such as moving or starting at a new school; and major family events such as the birth of a sibling, a death, or divorce. + +UI itself is an anxiety-causing event. Strong bladder contractions resulting in daytime leakage can cause embarrassment and anxiety that lead to nighttime wetting. + +Genetics + +Certain genes have been found to contribute to UI. Children have a 30 percent chance of having nighttime UI if one parent was affected as a child. If both parents were affected, there is a 70 percent chance of bedwetting.1",NIDDK,Urinary Incontinence in Children +What causes Urinary Incontinence in Children ?,"Daytime UI can be caused by a UTI or structural problems in the urinary tract. Daytime UI that is not associated with UTI or structural problems is less common and tends to disappear much earlier than nighttime UI. Overactive bladder and infrequent or incomplete voiding, or urination, are common causes of daytime UI. + +Overactive Bladder + +Overactive bladder is a condition in which a child experiences at least two of the following conditions: + +- urinary urgencyinability to delay urination - urge urinary incontinenceurinary leakage when the bladder contracts unexpectedly - urinary frequencyurination eight or more times a day or more than twice at night + +Infrequent or Incomplete Voiding + +Infrequent voiding is when children voluntarily hold urine for prolonged periods of time. For example, children may not want to use the toilets at school or may not want to interrupt enjoyable activities, so they ignore the bodys signal of a full bladder. In these cases, the bladder can overfill and leak urine. In addition, these children often develop UTIs, leading to an irritated or overactive bladder. + +Factors that may combine with infrequent voiding to produce daytime UI include + +- small bladder capacity - structural problems - anxiety-causing events - pressure from constipation - drinks or foods that contain caffeine + +Sometimes, overly demanding toilet training may make children unable to relax the sphincters enough to completely empty the bladder. Incomplete voiding may also lead to UTIs.",NIDDK,Urinary Incontinence in Children +What are the treatments for Urinary Incontinence in Children ?,"Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications. + +Growth and Development + +As children mature + +- bladder capacity increases - natural body alarms become activated - an overactive bladder settles down - production of ADH becomes normal - response to the bodys signal that it is time to void improves + +Bladder Training and Related Strategies + +Bladder training consists of exercises to strengthen the bladder muscles to better control urination. Gradually lengthening the time between trips to the bathroom can also help by stretching the bladder so it can hold more urine. Additional techniques that may help control daytime UI include + +- urinating on a scheduletimed voidingsuch as every 2 hours - avoiding food or drinks with caffeine - following suggestions for healthy urination, such as relaxing muscles and taking enough time to allow the bladder to empty completely + +Waking children up to urinate can help decrease nighttime UI. Ensuring children drink enough fluids throughout the day so they do not drink a lot of fluids close to bedtime may also help. A health care provider can give guidance about how much a child needs to drink each day, as the amount depends on a childs age, physical activity, and other factors. + +Moisture Alarms + +At night, moisture alarms can wake children when they begin to urinate. These devices use a water-sensitive pad connected to an alarm that sounds when moisture is first detected. A small pad can clip to the pajamas, or a larger pad can be placed on the bed. For the alarm to be effective, children must awaken as soon as the alarm goes off, stop the urine stream, and go to the bathroom. Children using moisture alarms may need to have someone sleep in the same room to help wake them up. + +Medications + +Nighttime UI may be treated by increasing ADH levels. The hormone can be boosted by a synthetic version known as desmopressin (DDAVP), which is available in pill form, nasal spray, and nose drops. DDAVP is approved for use in children. Another medication, called imipramine (Tofranil), is also used to treat nighttime UI, though the way this medication prevents bedwetting is not known. Although both of these medications may help children achieve short-term success, relapse is common once the medication is withdrawn. + +UI resulting from an overactive bladder may be treated with oxybutynin (Ditropan), a medication that helps calm the bladder muscle and control muscle spasms.",NIDDK,Urinary Incontinence in Children +What to do for Urinary Incontinence in Children ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing UI in children, though ensuring sufficient fluid intake throughout the day and avoiding caffeine intake may be helpful.",NIDDK,Urinary Incontinence in Children +What to do for Urinary Incontinence in Children ?,"- Urinary incontinence (UI) is the loss of bladder control, which results in the accidental loss of urine. A child with UI may not stay dry during the day or night. Although UI affects many children, it usually disappears naturally over time. - By 5 years of age, more than 98 percent of children can control urination during the day. Nighttime wetting is more common than daytime wetting in children, affecting 30 percent of 4-year-olds. - The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases result from more than one factor including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. - Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), obstructive sleep apnea (OSA), and anxiety. Certain genes have been found to contribute to UI. - Daytime UI that is not associated with urinary tract infection (UTI) or structural problems in the urinary tract may be due to an overactive bladder or infrequent or incomplete voiding problems. - Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications.",NIDDK,Urinary Incontinence in Children +What is (are) Hemochromatosis ?,"Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. Iron is important because it is part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues. However, too much iron in the body leads to iron overloada buildup of extra iron that, without treatment, can damage organs such as the liver, heart, and pancreas; endocrine glands; and joints. + +The three types of hemochromatosis are primary hemochromatosis, also called hereditary hemochromatosis; secondary hemochromatosis; and neonatal hemochromatosis.",NIDDK,Hemochromatosis +What causes Hemochromatosis ?,"Primary Hemochromatosis + +Inherited genetic defects cause primary hemochromatosis, and mutations in the HFE gene are associated with up to 90 percent of cases.1 The HFE gene helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y defects are the most common cause of primary hemochromatosis. + +People inherit two copies of the HFE geneone copy from each parent. Most people who inherit two copies of the HFE gene with the C282Y defect will have higher-than-average iron absorption. However, not all of these people will develop health problems associated with hemochromatosis. One recent study found that 31 percent of people with two copies of the C282Y defect developed health problems by their early fifties.2 Men who develop health problems from HFE defects typically develop them after age 40.1 Women who develop health problems from HFE defects typically develop them after menopause.1 + +People who inherit two H63D defects or one C282Y and one H63D defect may have higher-than-average iron absorption.3 However, they are unlikely to develop iron overload and organ damage. + +Rare defects in other genes may also cause primary hemochromatosis. Mutations in the hemojuvelin or hepcidin genes cause juvenile hemochromatosis, a type of primary hemochromatosis. People with juvenile hemochromatosis typically develop severe iron overload and liver and heart damage between ages 15 and 30. + +Secondary Hemochromatosis + +Hemochromatosis that is not inherited is called secondary hemochromatosis. The most common cause of secondary hemochromatosis is frequent blood transfusions in people with severe anemia. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means they carry less oxygen to the bodys cells. Types of anemia that may require frequent blood transfusions include + +- congenital, or inherited, anemias such as sickle cell disease, thalassemia, and Fanconis syndrome - severe acquired anemias, which are not inherited, such as aplastic anemia and autoimmune hemolytic anemia + +Liver diseasessuch as alcoholic liver disease, nonalcoholic steatohepatitis, and chronic hepatitis C infectionmay cause mild iron overload. However, this iron overload causes much less liver damage than the underlying liver disease causes. + +Neonatal Hemochromatosis + +Neonatal hemochromatosis is a rare disease characterized by liver failure and death in fetuses and newborns. Researchers are studying the causes of neonatal hemochromatosis and believe more than one factor may lead to the disease. + +Experts previously considered neonatal hemochromatosis a type of primary hemochromatosis. However, recent studies suggest genetic defects that increase iron absorption do not cause this disease. Instead, the mothers immune system may produce antibodiesproteins made by the immune system to protect the body from foreign substances such as bacteria or virusesthat damage the liver of the fetus. Women who have had one child with neonatal hemochromatosis are at risk for having more children with the disease.4 Treating these women during pregnancy with intravenous (IV) immunoglobulina solution of antibodies from healthy peoplecan prevent fetal liver damage.4 + +Researchers supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) recently found that a combination of exchange transfusionremoving blood and replacing it with donor bloodand IV immunoglobulin is an effective treatment for babies born with neonatal hemochromatosis.5",NIDDK,Hemochromatosis +What are the symptoms of Hemochromatosis ?,"A person with hemochromatosis may notice one or more of the following symptoms: + +- joint pain - fatigue, or feeling tired - unexplained weight loss - abnormal bronze or gray skin color - abdominal pain - loss of sex drive + +Not everyone with hemochromatosis will develop these symptoms.",NIDDK,Hemochromatosis +What are the complications of Hemochromatosis ?,"Without treatment, iron may build up in the organs and cause complications, including + +- cirrhosis, or scarring of liver tissue - diabetes - irregular heart rhythms or weakening of the heart muscle - arthritis - erectile dysfunction + +The complication most often associated with hemochromatosis is liver damage. Iron buildup in the liver causes cirrhosis, which increases the chance of developing liver cancer. + +For some people, complications may be the first sign of hemochromatosis. However, not everyone with hemochromatosis will develop complications.",NIDDK,Hemochromatosis +How to diagnose Hemochromatosis ?,"Health care providers use medical and family history, a physical exam, and routine blood tests to diagnose hemochromatosis or other conditions that could cause the same symptoms or complications. + +- Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemochromatosis. The health care provider will look for clues that may indicate hemochromatosis, such as a family history of arthritis or unexplained liver disease. - Physical exam. After taking a medical history, a health care provider will perform a physical exam, which may help diagnose hemochromatosis. During a physical exam, a health care provider usually - examines a patients body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the patients body - Blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Blood tests can determine whether the amount of iron stored in the body is higher than normal:1 - The transferrin saturation test shows how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values above or equal to 45 percent are considered abnormal. - The serum ferritin test detects the amount of ferritina protein that stores ironin the blood. Levels above 300 g/L in men and 200 g/L in women are considered abnormal. Levels above 1,000 g/L in men or women indicate a high chance of iron overload and organ damage. If either test shows higher-than-average levels of iron in the body, health care providers can order a special blood test that can detect two copies of the C282Y mutation to confirm the diagnosis. If the mutation is not present, health care providers will look for other causes. - Liver biopsy. Health care providers may perform a liver biopsy, a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to temporarily stop taking certain medications before the liver biopsy. The health care provider may ask the patient to fast for 8 hours before the procedure. During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. A health care provider performs a liver biopsy at a hospital or an outpatient center. The health care provider sends the liver sample to a pathology lab where the pathologista doctor who specializes in diagnosing diseaselooks at the tissue with a microscope and sends a report to the patients health care provider. The biopsy shows how much iron has accumulated in the liver and whether the patient has liver damage. + +Hemochromatosis is rare, and health care providers may not think to test for this disease. Thus, the disease is often not diagnosed or treated. The initial symptoms can be diverse, vague, and similar to the symptoms of many other diseases. Health care providers may focus on the symptoms and complications caused by hemochromatosis rather than on the underlying iron overload. However, if a health care provider diagnoses and treats the iron overload caused by hemochromatosis before organ damage has occurred, a person can live a normal, healthy life. + + + +Who should be tested for hemochromatosis? Experts recommend testing for hemochromatosis in people who have symptoms, complications, or a family history of the disease. Some researchers have suggested widespread screening for the C282Y mutation in the general population. However, screening is not cost-effective. Although the C282Y mutation occurs quite frequently, the disease caused by the mutation is rare, and many people with two copies of the mutation never develop iron overload or organ damage. Researchers and public health officials suggest the following: - Siblings of people who have hemochromatosis should have their blood tested to see if they have the C282Y mutation. - Parents, children, and other close relatives of people who have hemochromatosis should consider being tested. - Health care providers should consider testing people who have severe and continuing fatigue, unexplained cirrhosis, joint pain or arthritis, heart problems, erectile dysfunction, or diabetes because these health issues may result from hemochromatosis.",NIDDK,Hemochromatosis +What are the treatments for Hemochromatosis ?,"Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy. Phlebotomy rids the body of extra iron. This treatment is simple, inexpensive, and safe. + +Based on the severity of the iron overload, a patient will have phlebotomy to remove a pint of blood once or twice a week for several months to a year, and occasionally longer. Health care providers will test serum ferritin levels periodically to monitor iron levels. The goal is to bring serum ferritin levels to the low end of the average range and keep them there. Depending on the lab, the level is 25 to 50 g/L. + +After phlebotomy reduces serum ferritin levels to the desired level, patients may need maintenance phlebotomy treatment every few months. Some patients may need phlebotomies more often. Serum ferritin tests every 6 months or once a year will help determine how often a patient should have blood drawn. Many blood donation centers provide free phlebotomy treatment for people with hemochromatosis. + +Treating hemochromatosis before organs are damaged can prevent complications such as cirrhosis, heart problems, arthritis, and diabetes. Treatment cannot cure these conditions in patients who already have them at diagnosis. However, treatment will help most of these conditions improve. The treatments effectiveness depends on the degree of organ damage. For example, treating hemochromatosis can stop the progression of liver damage in its early stages and lead to a normal life expectancy. However, if a patient develops cirrhosis, his or her chance of developing liver cancer increases, even with phlebotomy treatment. Arthritis usually does not improve even after phlebotomy removes extra iron.",NIDDK,Hemochromatosis +What to do for Hemochromatosis ?,"Iron is an essential nutrient found in many foods. Healthy people usually absorb less than 10 percent of iron in the food they eat.6 People with hemochromatosis absorb up to 30 percent of that iron.6 People with hemochromatosis can help prevent iron overload by + +- eating only moderate amounts of iron-rich foods, such as red meat and organ meat - avoiding supplements that contain iron - avoiding supplements that contain vitamin C, which increases iron absorption + +People with hemochromatosis can take steps to help prevent liver damage, including + +- limiting the amount of alcoholic beverages they drink because alcohol increases their chance of cirrhosis and liver cancer - avoiding alcoholic beverages entirely if they already have cirrhosis",NIDDK,Hemochromatosis +What to do for Hemochromatosis ?,"- Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. - Inherited genetic defects cause primary hemochromatosis. - Primary hemochromatosis mainly affects Caucasians of Northern European descent. - A person with hemochromatosis may notice one or more of the following symptoms: joint pain; fatigue, or feeling tired; unexplained weight loss; abnormal bronze or gray skin color; abdominal pain; and loss of sex drive. Not everyone with hemochromatosis will develop these symptoms. - Without treatment, iron may build up in the organs and cause complications, including cirrhosis, diabetes, irregular heart rhythms or weakening of the heart muscle, arthritis, and erectile dysfunction. - If a health care provider diagnoses and treats the iron overload caused by hemochromatosis before organ damage has occurred, a person can live a normal, healthy life. - Experts recommend testing for hemochromatosis in people who have symptoms, complications, or a family history of the disease. - Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy.",NIDDK,Hemochromatosis +What is (are) Causes of Diabetes ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. + +Insulin is made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. + +If beta cells dont produce enough insulin, or the body doesnt respond to the insulin that is present, glucose builds up in the blood instead of being absorbed by cells in the body, leading to prediabetes or diabetes. Prediabetes is a condition in which blood glucose levels or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough to be diagnosed as diabetes. In diabetes, the bodys cells are starved of energy despite high blood glucose levels. + +Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. No one is certain what starts the processes that cause diabetes, but scientists believe genes and environmental factors interact to cause diabetes in most cases. + +The two main types of diabetes are type 1 diabetes and type 2 diabetes. A third type, gestational diabetes, develops only during pregnancy. Other types of diabetes are caused by defects in specific genes, diseases of the pancreas, certain drugs or chemicals, infections, and other conditions. Some people show signs of both type 1 and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. + +Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. + +Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. + +Genetic Susceptibility + +Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. + +Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. + +While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. + +Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. + +Autoimmune Destruction of Beta Cells + +In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. + +Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. + +Environmental Factors + +Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. + +Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. + +Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. + +Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years. + +Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes. + +Genetic Susceptibility + +Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites. + +Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes. + +Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk. + +Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes. + +Obesity and Physical Inactivity + +Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present. + +An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels. + +The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2 + +Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program. + +Insulin Resistance + +Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes. + +Abnormal Glucose Production by the Liver + +In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver. + +The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation + +A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels: + +- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels. + +- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. + +- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids. + +Metabolic Syndrome + +Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including + +- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood + +Cell Signaling and Regulation + +Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy. + +Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance. + +This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments. + +Beta Cell Dysfunction + +Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity. + +Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life. + +Risk Factors for Type 2 Diabetes + +People who develop type 2 diabetes are more likely to have the following characteristics: + +- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD + +The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Insulin Resistance and Beta Cell Dysfunction + +Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs. + +As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. + +Family History + +Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes. + +Future Risk of Type 2 Diabetes + +Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter. + +Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What to do for Causes of Diabetes ?,"- Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions.",NIDDK,Causes of Diabetes +What is (are) Ulcerative Colitis ?,"Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine. + +Ulcerative colitis is a chronic inflammatory disease of the gastrointestinal (GI) tract, called inflammatory bowel disease (IBD). Crohn's disease and microscopic colitis are the other common IBDs. More information is provided in the NIDDK health topics, Crohn's Disease and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis. + +Ulcerative colitis most often begins gradually and can become worse over time. Symptoms can be mild to severe. Most people have periods of remissiontimes when symptoms disappearthat can last for weeks or years. The goal of care is to keep people in remission long term. + +Most people with ulcerative colitis receive care from a gastroenterologist, a doctor who specializes in digestive diseases.",NIDDK,Ulcerative Colitis +What is (are) Ulcerative Colitis ?,"The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. + +The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the lower, or sigmoid, colon and the anus. The rectum stores stool prior to a bowel movement, when stool moves from the rectum to the anus and out of a person's body.",NIDDK,Ulcerative Colitis +What causes Ulcerative Colitis ?,"The exact cause of ulcerative colitis is unknown. Researchers believe the following factors may play a role in causing ulcerative colitis: + +- overactive intestinal immune system - genes - environment + +Overactive intestinal immune system. Scientists believe one cause of ulcerative colitis may be an abnormal immune reaction in the intestine. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Researchers believe bacteria or viruses can mistakenly trigger the immune system to attack the inner lining of the large intestine. This immune system response causes the inflammation, leading to symptoms. + +Genes. Ulcerative colitis sometimes runs in families. Research studies have shown that certain abnormal genes may appear in people with ulcerative colitis. However, researchers have not been able to show a clear link between the abnormal genes and ulcerative colitis. + +Environment. Some studies suggest that certain things in the environment may increase the chance of a person getting ulcerative colitis, although the overall chance is low. Nonsteroidal anti-inflammatory drugs,1 antibiotics,1 and oral contraceptives2 may slightly increase the chance of developing ulcerative colitis. A high-fat diet may also slightly increase the chance of getting ulcerative colitis.3 + +Some people believe eating certain foods, stress, or emotional distress can cause ulcerative colitis. Emotional distress does not seem to cause ulcerative colitis. A few studies suggest that stress may increase a person's chance of having a flare-up of ulcerative colitis. Also, some people may find that certain foods can trigger or worsen symptoms.",NIDDK,Ulcerative Colitis +What are the symptoms of Ulcerative Colitis ?,"The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include + +- an urgent need to have a bowel movement - feeling tired - nausea or loss of appetite - weight loss - fever - anemiaa condition in which the body has fewer red blood cells than normal + +Less common symptoms include + +- joint pain or soreness - eye irritation - certain rashes + +The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs in the intestine. When symptoms first appear, + +- most people with ulcerative colitis have mild to moderate symptoms - about 10 percent of people can have severe symptoms, such as frequent, bloody bowel movements; fevers; and severe abdominal cramping1",NIDDK,Ulcerative Colitis +How to diagnose Ulcerative Colitis ?,"A health care provider diagnoses ulcerative colitis with the following: + +- medical and family history - physical exam - lab tests - endoscopies of the large intestine + +The health care provider may perform a series of medical tests to rule out other bowel disorders, such as irritable bowel syndrome, Crohn's disease, or celiac disease, that may cause symptoms similar to those of ulcerative colitis. Read more about these conditions on the Digestive Disease A-Z list. + +Medical and Family History + +Taking a medical and family history can help the health care provider diagnose ulcerative colitis and understand a patient's symptoms. The health care provider will also ask the patient about current and past medical conditions and medications. + +Physical Exam + +A physical exam may help diagnose ulcerative colitis. During a physical exam, the health care provider most often + +- checks for abdominal distension, or swelling - listens to sounds within the abdomen using a stethoscope - taps on the abdomen to check for tenderness and pain + +Lab Tests + +A health care provider may order lab tests to help diagnose ulcerative colitis, including blood and stool tests. + +Blood tests. A blood test involves drawing blood at a health care provider's office or a lab. A lab technologist will analyze the blood sample. A health care provider may use blood tests to look for + +- anemia - inflammation or infection somewhere in the body - markers that show ongoing inflammation - low albumin, or proteincommon in patients with severe ulcerative colitis + +Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool at home. The patient returns the sample to the health care provider or to a lab. A lab technologist will analyze the stool sample. Health care providers commonly order stool tests to rule out other causes of GI diseases, such as infection. + +Endoscopies of the Large Intestine + +Endoscopies of the large intestine are the most accurate methods for diagnosing ulcerative colitis and ruling out other possible conditions, such as Crohn's disease, diverticular disease, or cancer. Endoscopies of the large intestine include + +- colonoscopy - flexible sigmoidoscopy + +Colonoscopy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside the rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patient's vital signs and try to make him or her as comfortable as possible. A nurse or technician places an intravenous (IV) needle in a vein in the patient's arm or hand to give anesthesia. + +For the test, the patient will lie on a table or stretcher while the gastroenterologist inserts a colonoscope into the patient's anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the gastroenterologist to carefully examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again. + +A colonoscopy can show irritated and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the inner lining of the intestine. If the gastroenterologist suspects ulcerative colitis, he or she will biopsy the patient's colon and rectum. A biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. + +A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure. + +Flexible sigmoidoscopy. Flexible sigmoidoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called a sigmoidoscope or scope, to look inside the rectum, the sigmoid colon, and sometimes the descending colon. In most cases, a patient does not need anesthesia. + +For the test, the patient will lie on a table or stretcher while the health care provider inserts the sigmoidoscope into the patient's anus and slowly guides it through the rectum, the sigmoid colon, and sometimes the descending colon. The scope inflates the large intestine with air to give the health care provider a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the health care provider to examine the tissues lining the sigmoid colon and rectum. The health care provider may ask the patient to move several times and adjust the scope for better viewing. Once the scope reaches the end of the sigmoid colon, the health care provider slowly withdraws it while examining the lining of the colon and rectum again. + +The health care provider will look for signs of bowel diseases and conditions such as irritated and swollen tissue, ulcers, and polyps. + +If the health care provider suspects ulcerative colitis, he or she will biopsy the patient's colon and rectum. + +A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure.",NIDDK,Ulcerative Colitis +What are the treatments for Ulcerative Colitis ?,"A health care provider treats ulcerative colitis with + +- medications - surgery + +Which treatment a person needs depends on the severity of the disease and the symptoms. Each person experiences ulcerative colitis differently, so health care providers adjust treatments to improve the person's symptoms and induce, or bring about, remission. + +Medications + +While no medication cures ulcerative colitis, many can reduce symptoms. The goals of medication therapy are + +- inducing and maintaining remission - improving the person's quality of life + +Many people with ulcerative colitis require medication therapy indefinitely, unless they have their colon and rectum surgically removed. + +Health care providers will prescribe the medications that best treat a person's symptoms: + +- aminosalicylates - corticosteroids - immunomodulators - biologics, also called anti-TNF therapies - other medications + +Depending on the location of the symptoms in the colon, health care providers may recommend a person take medications by + +- enema, which involves flushing liquid medication into the rectum using a special wash bottle. The medication directly treats inflammation of the large intestine. - rectal foama foamy substance the person puts into the rectum like an enema. The medication directly treats inflammation of the large intestine. - suppositorya solid medication the person inserts into the rectum to dissolve. The intestinal lining absorbs the medication. - mouth. - IV. + +Aminosalicylates are medications that contain 5-aminosalicyclic acid (5-ASA), which helps control inflammation. Health care providers typically use aminosalicylates to treat people with mild or moderate symptoms or help people stay in remission. Aminosalicylates can be prescribed as an oral medication or a topical medicationby enema or suppository. Combination therapyoral and rectalis most effective, even in people with extensive ulcerative colitis.5 Aminosalicylates are generally well tolerated. + +Aminosalicylates include + +- balsalazide - mesalamine - olsalazine - sulfasalazinea combination of sulfapyridine and 5-ASA + +Some of the common side effects of aminosalicylates include + +- abdominal pain - diarrhea - headaches - nausea + +Health care providers may order routine blood tests for kidney function, as aminosalicylates can cause a rare allergic reaction in the kidneys. + +Corticosteroids, also known as steroids, help reduce the activity of the immune system and decrease inflammation. Health care providers prescribe corticosteroids for people with more severe symptoms and people who do not respond to aminosalicylates. Health care providers do not typically prescribe corticosteroids for long-term use. + +Corticosteroids are effective in bringing on remission; however, studies have not shown that the medications help maintain long-term remission. Corticosteroids include + +- budesonide - hydrocortisone - methylprednisone - prednisone + +Side effects of corticosteroids include + +- acne - a higher chance of developing infections - bone mass loss - death of bone tissue - high blood glucose - high blood pressure - mood swings - weight gain + +People who take budesonide may have fewer side effects than with other steroids. + +Immunomodulators reduce immune system activity, resulting in less inflammation in the colon. These medications can take several weeks to 3 months to start working. Immunomodulators include + +- azathioprine - 6-mercaptopurine, or 6-MP + +Health care providers prescribe these medications for people who do not respond to 5-ASAs. People taking these medications may have the following side effects: + +- abnormal liver tests - feeling tired - infection - low white blood cell count, which can lead to a higher chance of infection - nausea and vomiting - pancreatitis - slightly increased chance of lymphoma - slightly increased chance of nonmelanoma skin cancers + +Health care providers routinely test blood counts and liver function of people taking immunomodulators. People taking these medications should also have yearly skin cancer exams. + +People should talk with their health care provider about the risks and benefits of immunomodulators. + +Biologicsincluding adalimumab, golimumab, infliximab, and vedolizumabare medications that target a protein made by the immune system called tumor necrosis factor (TNF). These medications decrease inflammation in the large intestine by neutralizing TNF. Anti-TNF therapies work quickly to bring on remission, especially in people who do not respond to other medications. Infliximab and vedolizumab are given through an IV; adalimumab and golimumab are given by injection. + +Health care providers will screen patients for tuberculosis and hepatitis B before starting treatment with anti-TNF medications. + +Side effects of anti-TNF medications may include + +- a higher chance of developing infectionsespecially tuberculosis or fungal infection - skin cancermelanoma - psoriasis + +Other medications to treat symptoms or complications may include + +- acetaminophen for mild pain. People with ulcerative colitis should avoid using ibuprofen, naproxen, and aspirin since these medications can make symptoms worse. - antibiotics to prevent or treat infections. - loperamide to help slow or stop diarrhea. In most cases, people only take this medication for short periods of time since it can increase the chance of developing megacolon. People should check with a health care provider before taking loperamide, because those with significantly active ulcerative colitis should not take this medication.6 - cyclosporinehealth care providers prescribe this medication only for people with severe ulcerative colitis because of the side effects. People should talk with their health care provider about the risks and benefits of cyclosporine. + +Surgery + +Some people will need surgery to treat their ulcerative colitis when they have + +- colon cancer - dysplasia, or precancerous cells in the colon - complications that are life threatening, such as megacolon or bleeding - no improvement in symptoms or condition despite treatment - continued dependency on steroids - side effects from medications that threaten their health + +Removal of the entire colon, including the rectum, ""cures"" ulcerative colitis. A surgeon performs the procedure at a hospital. A surgeon can perform two different types of surgery to remove a patient's colon and treat ulcerative colitis: + +- proctocolectomy and ileostomy - proctocolectomy and ileoanal reservoir + +Full recovery from both operations may take 4 to 6 weeks. + +Proctocolectomy and ileostomy. A proctocolectomy is surgery to remove a patient's entire colon and rectum. An ileostomy is a stoma, or opening in the abdomen, that a surgeon creates from a part of the ileumthe last section of the small intestine. The surgeon brings the end of the ileum through an opening in the patient's abdomen and attaches it to the skin, creating an opening outside of the patient's body. The stoma most often is located in the lower part of the patient's abdomen, just below the beltline. + +A removable external collection pouch, called an ostomy pouch or ostomy appliance, connects to the stoma and collects intestinal contents outside the patient's body. Intestinal contents pass through the stoma instead of passing through the anus. The stoma has no muscle, so it cannot control the flow of intestinal contents, and the flow occurs whenever peristalsis occurs. Peristalsis is the movement of the organ walls that propels food and liquid through the GI tract. + +People who have this type of surgery will have the ileostomy for the rest of their lives. + +Proctocolectomy and ileoanal reservoir. An ileoanal reservior is an internal pouch made from the patient's ileum. This surgery is a common alternative to an ileostomy and does not have a permanent stoma. Ileoanal reservoir is also known as a J-pouch, a pelvic pouch, or an ileoanal pouch anastamosis. The ileoanal reservior connects the ileum to the anus. The surgeon preserves the outer muscles of the patient's rectum during the proctocolectomy. Next, the surgeon creates the ileal pouch and attaches it to the end of the rectum. Waste is stored in the pouch and passes through the anus. + +After surgery, bowel movements may be more frequent and watery than before the procedure. People may have fecal incontinencethe accidental passing of solid or liquid stool or mucus from the rectum. Medications can be used to control pouch function. Women may be infertile following the surgery. + +Many people develop pouchitis in the ileoanal reservoir. Pouchitis is an irritation or inflammation of the lining of the ileoanal reservoir. A health care provider treats pouchitis with antibiotics. Rarely, pouchitis can become chronic and require long-term antibiotics or other medications. + +The surgeon will recommend one of the operations based on a person's symptoms, severity of disease, expectations, age, and lifestyle. Before making a decision, the person should get as much information as possible by talking with + +- health care providers - enterostomal therapists, nurses who work with colon-surgery patients - people who have had one of the surgeries + +Patient-advocacy organizations can provide information about support groups and other resources. + +More information is provided in the NIDDK health topic, ostomy surgery.",NIDDK,Ulcerative Colitis +What to do for Ulcerative Colitis ?,"Researchers have not found that eating, diet, and nutrition play a role in causing ulcerative colitis symptoms. Good nutrition is important in the management of ulcerative colitis, however. Dietary changes can help reduce symptoms. A health care provider may recommend dietary changes such as + +- avoiding carbonated drinks - avoiding popcorn, vegetable skins, nuts, and other high-fiber foods while a person has symptoms - drinking more liquids - eating smaller meals more often - keeping a food diary to help identify troublesome foods + +Health care providers may recommend nutritional supplements and vitamins for people who do not absorb enough nutrients. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics. + +Depending on a person's symptoms or medications, a health care provider may recommend a specific diet, such as a + +- high-calorie diet - lactose-free diet - low-fat diet - low-fiber diet - low-salt diet + +People should speak with a health care provider about specific dietary recommendations and changes.",NIDDK,Ulcerative Colitis +What are the complications of Ulcerative Colitis ?,"Complications of ulcerative colitis can include + +- rectal bleedingwhen ulcers in the intestinal lining open and bleed. Rectal bleeding can cause anemia, which health care providers can treat with diet changes and iron supplements. People who have a large amount of bleeding in the intestine over a short period of time may require surgery to stop the bleeding. Severe bleeding is a rare complication of ulcerative colitis. - dehydration and malabsorbtion, which occur when the large intestine is unable to absorb fluids and nutrients because of diarrhea and inflammation. Some people may need IV fluids to replace lost nutrients and fluids. - changes in bones. Some corticosteroid medications taken to treat ulcerative colitis symptoms can cause - osteoporosisthe loss of bone - osteopenialow bone density + +Health care providers will monitor people for bone loss and can recommend calcium and vitamin D supplements and medications to help prevent or slow bone loss. + +- inflammation in other areas of the body. The immune system can trigger inflammation in the - joints - eyes - skin - liver + +Health care providers can treat inflammation by adjusting medications or prescribing new medications. + +- megacolona serious complication that occurs when inflammation spreads to the deep tissue layers of the large intestine. The large intestine swells and stops working. Megacolon can be a life-threatening complication and most often requires surgery. Megacolon is a rare complication of ulcerative colitis. + + + +Ulcerative Colitis and Colon Cancer People with ulcerative colitis may be more likely to develop colon cancer when - ulcerative colitis affects the entire colon - a person has ulcerative colitis for at least 8 years - inflammation is ongoing - people also have primary sclerosing cholangitis, a condition that affects the liver - a person is male People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer. People with ulcerative colitis should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies or a special dye spray called chromoendoscopy. Health care providers may recommend colonoscopy every 1 to 3 years for people with ulcerative colitis who have - the disease in one-third or more or of their colon - had ulcerative colitis for 8 years Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery. Surgery to remove the entire colon eliminates the risk of colon cancer.",NIDDK,Ulcerative Colitis +What to do for Ulcerative Colitis ?,"- Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine. - The exact cause of ulcerative colitis is unknown. Researchers believe that factors such as an overactive intestinal immune system, genes, and environment may play a role in causing ulcerative colitis. - Ulcerative colitis can occur in people of any age. However, it is more likely to develop in people - between the ages of 15 and 30 - older than 60 - who have a family member with inflammatory bowel disease (IBD) - of Jewish descent - The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. - A health care provider diagnoses ulcerative colitis with the following: - medical and family history - physical exam - lab tests - endoscopies of the large intestine - Which treatment a person needs depends on the severity of the disease and symptoms. - Good nutrition is important in the management of ulcerative colitis. A health care provider may recommend that a person make dietary changes. - People with ulcerative colitis should talk with their health care provider about how often they should get screened for colon cancer.",NIDDK,Ulcerative Colitis +What is (are) What I need to know about Cirrhosis ?,"Cirrhosis* is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue replaces healthy liver tissue and blocks the normal flow of blood through the liver. + +A healthy liver + +- makes proteins - helps fight infections - cleans the blood - helps digest food - stores a form of sugar that your body uses for energy + +A liver with too much scar tissue cannot work properly. You cannot live without a liver that works. But early treatment can control symptoms and keep cirrhosis from getting worse. + + + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Cirrhosis +What causes What I need to know about Cirrhosis ?,"Causes of cirrhosis include + +- heavy alcohol use - some drugs, medicines, and harmful chemicals - infections - chronic hepatitis B, C, or Dviral infections that attack the liver - autoimmune hepatitis, which causes the bodys immune system to destroy liver cells - nonalcoholic fatty liver disease, which is often caused by obesity - diseases that damage or destroy bile ductstubes that carry bile from the liver + +Some inherited diseasesdiseases that are passed from parent to childcan cause cirrhosis: + +- hemochromatosis, a disease that causes iron to collect in the liver - Wilson disease, a condition that causes copper to build up in the liver - porphyria, a disorder that affects the skin, bone marrow, and liver",NIDDK,What I need to know about Cirrhosis +What are the symptoms of What I need to know about Cirrhosis ?,"You may have no symptoms in the early stages of cirrhosis. As cirrhosis gets worse you may + +- feel tired or weak - lose your appetite - feel sick to your stomach - lose weight - notice red, spider-shaped blood vessels under your skin + +Cirrhosis can lead to other serious problems: + +- You may bruise or bleed easily, or have nosebleeds. - Bloating or swelling may occur as fluid builds up in your legs or abdomenthe area between your chest and hips. Fluid buildup in your legs is called edema; buildup in your abdomen is called ascites. - Medicines, including those you can buy over the counter such as vitamins and herbal supplements, may have a stronger effect on you. Your liver does not break medicines down as quickly as a healthy liver would. - Waste materials from food may build up in your blood or brain and cause confusion or difficulty thinking. - Blood pressure may increase in the vein entering your liver, a condition called portal hypertension. - Enlarged veins, called varices, may develop in your esophagus and stomach. Varices can bleed suddenly, causing you to throw up blood or pass blood in a bowel movement. - Your kidneys may not work properly or may fail. - Your skin and the whites of your eyes may turn yellow, a condition called jaundice. - You may develop severe itching. - You may develop gallstones. + +In the early stages, cirrhosis causes your liver to swell. Then, as more scar tissue replaces healthy tissue, your liver shrinks. + +A small number of people with cirrhosis also get liver cancer.",NIDDK,What I need to know about Cirrhosis +How to diagnose What I need to know about Cirrhosis ?,"Your doctor will examine you and may perform + +- blood tests to see whether your liver is working properly - imaging tests, which may show the size of your liver and show swelling or shrinkage - a liver biopsy, in which a doctor uses a needle to take a small piece of liver tissue to view with a microscope to look for scar tissue",NIDDK,What I need to know about Cirrhosis +What are the treatments for What I need to know about Cirrhosis ?,"Once you have cirrhosis, nothing can make all the scar tissue go away. But treating the cause will keep cirrhosis from getting worse. For example, if cirrhosis is from heavy alcohol use, the treatment is to completely stop drinking alcohol. If cirrhosis is caused by hepatitis C, then the hepatitis C virus is treated with medicine. + + + +Your doctor will suggest treatment based on the cause of your cirrhosis and your symptoms. Being diagnosed early and carefully following a treatment plan can help many people with cirrhosis. In the late stages of cirrhosis, certain treatments may not be effective. In that case, your doctor will work with you to prevent or manage the problems that cirrhosis can cause. + + + +What if the cirrhosis treatment doesnt work? If too much scar tissue forms, your liver could fail. Then you will need a liver transplant. A liver transplant can return you to good health. For information about liver transplantation, see the booklet What I need to know about Liver Transplantation from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).",NIDDK,What I need to know about Cirrhosis +What are the treatments for What I need to know about Cirrhosis ?,"If too much scar tissue forms, your liver could fail. Then you will need a liver transplant. A liver transplant can return you to good health. For information about liver transplantation, see the booklet What I need to know about Liver Transplantation from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).",NIDDK,What I need to know about Cirrhosis +How to prevent What I need to know about Cirrhosis ?,"To prevent cirrhosis, + +- see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis. - try to keep your weight in the normal range. Being overweight can make several liver diseases worse. - do not drink any alcohol. Alcohol can harm liver cells. Drinking large amounts of alcohol over many years is one of the major causes of cirrhosis. - do not use illegal drugs, which can increase your chances of getting hepatitis B or hepatitis C. - see your doctor if you have hepatitis. Treatments for hepatitis B, C, and D are available. If you are on treatment, carefully follow your treatment directions. - if you have autoimmune hepatitis, take your medicines and have regular checkups as recommended by your doctor or a liver specialist.",NIDDK,What I need to know about Cirrhosis +What to do for What I need to know about Cirrhosis ?,"- Cirrhosis is scarring of the liver. Scar tissue replaces healthy liver tissue. - Some common causes of cirrhosis include heavy alcohol use, hepatitis infections, and nonalcoholic fatty liver disease. - In the early stages of cirrhosis, you may have no symptoms. As the disease gets worse, cirrhosis can cause serious problems. - Once you have cirrhosis, nothing can make all the scar tissue go away. But treatment can prevent cirrhosis from getting worse. - If too much scar tissue forms and your liver fails, you will need a liver transplant. - You can take steps to prevent cirrhosis or keep it from getting worse.",NIDDK,What I need to know about Cirrhosis +What is (are) Urinary Retention ?,"Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. Acute urinary retention, a potentially life-threatening medical condition, requires immediate emergency treatment. Acute urinary retention can cause great discomfort or pain. + +Chronic urinary retention can be a long-lasting medical condition. People with chronic urinary retention can urinate. However, they do not completely empty all of the urine from their bladders. Often people are not even aware they have this condition until they develop another problem, such as urinary incontinenceloss of bladder control, resulting in the accidental loss of urineor a urinary tract infection (UTI), an illness caused by harmful bacteria growing in the urinary tract.",NIDDK,Urinary Retention +What is (are) Urinary Retention ?,"The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. In order for normal urination to occur, all body parts in the urinary tract need to work together in the correct order. + +Kidneys. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. The kidneys work around the clock; a person does not control what they do. + +Ureters. Ureters are the thin tubes of muscleone on each side of the bladderthat carry urine from each of the kidneys to the bladder. + +Bladder. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. Although a person does not control kidney function, a person does control when the bladder empties. Bladder emptying is known as urination. The bladder stores urine until the person finds an appropriate time and place to urinate. A normal bladder acts like a reservoir and can hold 1.5 to 2 cups of urine. How often a person needs to urinate depends on how quickly the kidneys produce the urine that fills the bladder. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. During urination, the bladder empties through the urethra, located at the bottom of the bladder. + +Three sets of muscles work together like a dam, keeping urine in the bladder. + +The first set is the muscles of the urethra itself. The area where the urethra joins the bladder is the bladder neck. The bladder neck, composed of the second set of muscles known as the internal sphincter, helps urine stay in the bladder. The third set of muscles is the pelvic floor muscles, also referred to as the external sphincter, which surround and support the urethra. + +To urinate, the brain signals the muscular bladder wall to tighten, squeezing urine out of the bladder. At the same time, the brain signals the sphincters to relax. As the sphincters relax, urine exits the bladder through the urethra.",NIDDK,Urinary Retention +What causes Urinary Retention ?,"Urinary retention can result from + +- obstruction of the urethra - nerve problems - medications - weakened bladder muscles + +Obstruction of the Urethra + +Obstruction of the urethra causes urinary retention by blocking the normal urine flow out of the body. Conditions such as benign prostatic hyperplasiaalso called BPHurethral stricture, urinary tract stones, cystocele, rectocele, constipation, and certain tumors and cancers can cause an obstruction. + +Benign prostatic hyperplasia. For men in their 50s and 60s, urinary retention is often caused by prostate enlargement due to benign prostatic hyperplasia. Benign prostatic hyperplasia is a medical condition in which the prostate gland is enlarged and not cancerous. The prostate is a walnut-shaped gland that is part of the male reproductive system. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The prostate goes through two main periods of growth. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second phase of growth. + +As the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder. + +More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia. + +Urethral stricture. A urethral stricture is a narrowing or closure of the urethra. Causes of urethral stricture include inflammation and scar tissue from surgery, disease, recurring UTIs, or injury. In men, a urethral stricture may result from prostatitis, scarring after an injury to the penis or perineum, or surgery for benign prostatic hyperplasia and prostate cancer. Prostatitis is a frequently painful condition that involves inflammation of the prostate and sometimes the areas around the prostate. The perineum is the area between the anus and the sex organs. Since men have a longer urethra than women, urethral stricture is more common in men than women.1 + +More information is provided in the NIDDK health topic, Prostatitis: Inflammation of the Prostate. + +Surgery to correct pelvic organ prolapse, such as cystocele and rectocele, and urinary incontinence can also cause urethral stricture. The urethral stricture often gets better a few weeks after surgery. + +Urethral stricture and acute or chronic urinary retention may occur when the muscles surrounding the urethra do not relax. This condition happens mostly in women. + +Urinary tract stones. Urinary tract stones develop from crystals that form in the urine and build up on the inner surfaces of the kidneys, ureters, or bladder. The stones formed or lodged in the bladder may block the opening to the urethra. + +Cystocele. A cystocele is a bulging of the bladder into the vagina. A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina. The abnormal position of the bladder may cause it to press against and pinch the urethra. + +More information is provided in the NIDDK health topic, Cystocele. + +Rectocele. A rectocele is a bulging of the rectum into the vagina. A rectocele occurs when the muscles and supportive tissues between a womans rectum and vagina weaken and stretch, letting the rectum sag from its normal position and bulge into the vagina. The abnormal position of the rectum may cause it to press against and pinch the urethra. + +Constipation. Constipation is a condition in which a person has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. A person with constipation may feel bloated or have pain in the abdomen the area between the chest and hips. Some people with constipation often have to strain to have a bowel movement. Hard stools in the rectum may push against the bladder and urethra, causing the urethra to be pinched, especially if a rectocele is present. + +More information is provided in the NIDDK health topic, Constipation. + +Tumors and cancers. Tumors and cancerous tissues in the bladder or urethra can gradually expand and obstruct urine flow by pressing against and pinching the urethra or by blocking the bladder outlet. Tumors may be cancerous or noncancerous. + +Nerve Problems + +Urinary retention can result from problems with the nerves that control the bladder and sphincters. Many events or conditions can interfere with nerve signals between the brain and the bladder and sphincters. If the nerves are damaged, the brain may not get the signal that the bladder is full. Even when a person has a full bladder, the bladder muscles that squeeze urine out may not get the signal to push, or the sphincters may not get the signal to relax. People of all ages can have nerve problems that interfere with bladder function. Some of the most common causes of nerve problems include + +- vaginal childbirth - brain or spinal cord infections or injuries - diabetes - stroke - multiple sclerosis - pelvic injury or trauma - heavy metal poisoning + +In addition, some children are born with defects that affect the coordination of nerve signals among the bladder, spinal cord, and brain. Spina bifida and other birth defects that affect the spinal cord can lead to urinary retention in newborns. + +More information is provided in the NIDDK health topics, Nerve Disease and Bladder Control and Urine Blockage in Newborns. + +Many patients have urinary retention right after surgery. During surgery, anesthesia is often used to block pain signals in the nerves, and fluid is given intravenously to compensate for possible blood loss. The combination of anesthesia and intravenous (IV) fluid may result in a full bladder with impaired nerve function, causing urinary retention. Normal bladder nerve function usually returns once anesthesia wears off. The patient will then be able to empty the bladder completely. + +Medications + +Various classes of medications can cause urinary retention by interfering with nerve signals to the bladder and prostate. These medications include + +- antihistamines to treat allergies - cetirizine (Zyrtec) - chlorpheniramine (Chlor-Trimeton) - diphenhydramine (Benadryl) - fexofenadine (Allegra) - anticholinergics/antispasmodics to treat stomach cramps, muscle spasms, and urinary incontinence - hyoscyamine (Levbid) - oxybutynin (Ditropan) - propantheline (Pro-Banthine) - tolterodine (Detrol) - tricyclic antidepressants to treat anxiety and depression - amitriptyline (Elavil) - doxepin (Adapin) - imipramine (Tofranil) - nortriptyline (Pamelor) + +Other medications associated with urinary retention include + +- decongestants - ephedrine - phenylephrine - pseudoephedrine - nifedipine (Procardia), a medication to treat high blood pressure and chest pain - carbamazepine (Tegretol), a medication to control seizures in people with epilepsy - cyclobenzaprine (Flexeril), a muscle relaxant medication - diazepam (Valium), a medication used to relieve anxiety, muscle spasms, and seizures - nonsteroidal anti-inflammatory drugs - amphetamines - opioid analgesics + +Over-the-counter cold and allergy medications that contain decongestants, such as pseudoephedrine, and antihistamines, such as diphenhydramine, can increase symptoms of urinary retention in men with prostate enlargement. + +Weakened Bladder Muscles + +Aging is a common cause of weakened bladder muscles. Weakened bladder muscles may not contract strongly enough or long enough to empty the bladder completely, resulting in urinary retention.",NIDDK,Urinary Retention +How many people are affected by Urinary Retention ?,"Urinary retention in men becomes more common with age. + +- In men 40 to 83 years old, the overall incidence of urinary retention is 4.5 to 6.8 per 1,000 men.2 - For men in their 70s, the overall incidence increases to 100 per 1,000 men.2 - For men in their 80s, the incidence of acute urinary retention is 300 per 1,000 men.2 + +Urinary retention in women is less common, though not rare.3 The incidence of urinary retention in women has not been well studied because researchers have primarily thought of urinary retention as a mans problem related to the prostate.4",NIDDK,Urinary Retention +What are the symptoms of Urinary Retention ?,"The symptoms of acute urinary retention may include the following and require immediate medical attention: + +- inability to urinate - painful, urgent need to urinate - pain or discomfort in the lower abdomen - bloating of the lower abdomen + +The symptoms of chronic urinary retention may include + +- urinary frequencyurination eight or more times a day - trouble beginning a urine stream - a weak or an interrupted urine stream - an urgent need to urinate with little success when trying to urinate - feeling the need to urinate after finishing urination - mild and constant discomfort in the lower abdomen and urinary tract + +Some people with chronic urinary retention may not have symptoms that lead them to seek medical care. People who are unaware they have chronic urinary retention may have a higher chance of developing complications. + + + +When to Seek Medical Care A person who has any of the following symptoms should see a health care provider right away: - complete inability to urinate - great discomfort or pain in the lower abdomen and urinary tract",NIDDK,Urinary Retention +How to diagnose Urinary Retention ?,"A health care provider diagnoses acute or chronic urinary retention with + +- a physical exam - postvoid residual measurement + +A health care provider may use the following medical tests to help determine the cause of urinary retention: + +- cystoscopy - computerized tomography (CT) scans - urodynamic tests - electromyography + +Physical Exam + +A health care provider may suspect urinary retention because of a patients symptoms and, therefore, perform a physical exam of the lower abdomen. The health care provider may be able to feel a distended bladder by lightly tapping on the lower belly. + +Postvoid Residual Measurement + +This test measures the amount of urine left in the bladder after urination. The remaining urine is called the postvoid residual. A specially trained technician performs an ultrasound, which uses harmless sound waves to create a picture of the bladder, to measure the postvoid residual. The technician performs the bladder ultrasound in a health care providers office, a radiology center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia. + +A health care provider may use a cathetera thin, flexible tubeto measure postvoid residual. The health care provider inserts the catheter through the urethra into the bladder, a procedure called catheterization, to drain and measure the amount of remaining urine. A postvoid residual of 100 mL or more indicates the bladder does not empty completely. A health care provider performs this test during an office visit. The patient often receives local anesthesia. + +Medical Tests + +Cystoscopy. Cystoscopy is a procedure that requires a tubelike instrument, called a cystoscope, to look inside the urethra and bladder. A health care provider performs cystoscopy during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. However, in some cases, the patient may receive sedation and regional or general anesthesia. A health care provider may use cystoscopy to diagnose urethral stricture or look for a bladder stone blocking the opening of the urethra. + +More information is provided in the NIDDK health topic, Cystoscopy and Ureteroscopy. + +CT scans. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. A health care provider may give infants and children a sedative to help them fall asleep for the test. CT scans can show + +- urinary tract stones - UTIs - tumors - traumatic injuries - abnormal, fluid-containing sacs called cysts + +Urodynamic tests. Urodynamic tests include a variety of procedures that look at how well the bladder and urethra store and release urine. A health care provider may use one or more urodynamic tests to diagnose urinary retention. The health care provider will perform these tests during an office visit. For tests that use a catheter, the patient often receives local anesthesia. + +- Uroflowmetry. Uroflowmetry measures urine speed and volume. Special equipment automatically measures the amount of urine and the flow ratehow fast urine comes out. Uroflowmetry equipment includes a device for catching and measuring urine and a computer to record the data. The equipment creates a graph that shows changes in flow rate from second to second so the health care provider can see the highest flow rate and how many seconds it takes to get there. A weak bladder muscle or blocked urine flow will yield an abnormal test result. - Pressure flow study. A pressure flow study measures the bladder pressure required to urinate and the flow rate a given pressure generates. A health care provider places a catheter with a manometer into the bladder. The manometer measures bladder pressure and flow rate as the bladder empties. A pressure flow study helps diagnose bladder outlet obstruction. - Video urodynamics. This test uses x rays or ultrasound to create real-time images of the bladder and urethra during the filling or emptying of the bladder. For x rays, a health care provider passes a catheter through the urethra into the bladder. He or she fills the bladder with contrast medium, which is visible on the video images. Video urodynamic images can show the size and shape of the urinary tract, the flow of urine, and causes of urinary retention, such as bladder neck obstruction. + +More information is provided in the NIDDK health topic, Urodynamic Testing. + +Electromyography. Electromyography uses special sensors to measure the electrical activity of the muscles and nerves in and around the bladder and sphincters. A specially trained technician places sensors on the skin near the urethra and rectum or on a urethral or rectal catheter. The sensors record, on a machine, muscle and nerve activity. The patterns of the nerve impulses show whether the messages sent to the bladder and sphincters coordinate correctly. A technician performs electromyography in a health care providers office, an outpatient center, or a hospital. The patient does not need anesthesia if the technician uses sensors placed on the skin. The patient will receive local anesthesia if the technician uses sensors placed on a urethral or rectal catheter.",NIDDK,Urinary Retention +What are the treatments for Urinary Retention ?,"A health care provider treats urinary retention with + +- bladder drainage - urethral dilation - urethral stents - prostate medications - surgery + +The type and length of treatment depend on the type and cause of urinary retention. + +Bladder Drainage + +Bladder drainage involves catheterization to drain urine. Treatment of acute urinary retention begins with catheterization to relieve the immediate distress of a full bladder and prevent bladder damage. A health care provider performs catheterization during an office visit or in an outpatient center or a hospital. The patient often receives local anesthesia. The health care provider can pass a catheter through the urethra into the bladder. In cases of a blocked urethra, he or she can pass a catheter directly through the lower abdomen, just above the pubic bone, directly into the bladder. In these cases, the health care provider will use anesthesia. + +For chronic urinary retention, the patient may require intermittentoccasional, or not continuousor long-term catheterization if other treatments do not work. Patients who need to continue intermittent catheterization will receive instruction regarding how to selfcatheterize to drain urine as necessary. + +Urethral Dilation + +Urethral dilation treats urethral stricture by inserting increasingly wider tubes into the urethra to widen the stricture. An alternative dilation method involves inflating a small balloon at the end of a catheter inside the urethra. A health care provider performs a urethral dilation during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia. + +Urethral Stents + +Another treatment for urethral stricture involves inserting an artificial tube, called a stent, into the urethra to the area of the stricture. Once in place, the stent expands like a spring and pushes back the surrounding tissue, widening the urethra. Stents may be temporary or permanent. A health care provider performs stent placement during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia. + +Prostate Medications + +Medications that stop the growth of or shrink the prostate or relieve urinary retention symptoms associated with benign prostatic hyperplasia include + +- dutasteride (Avodart) - finasteride (Proscar) + +The following medications relax the muscles of the bladder outlet and prostate to help relieve blockage: + +- alfuzosin (Uroxatral) - doxazosin (Cardura) - silodosin (Rapaflo) - tadalafil (Cialis) - tamsulosin (Flomax) - terazosin (Hytrin) + +Surgery + +Prostate surgery. To treat urinary retention caused by benign prostatic hyperplasia, a urologista doctor who specializes in the urinary tractmay surgically destroy or remove enlarged prostate tissue by using the transurethral method. For transurethral surgery, the urologist inserts a catheter or surgical instruments through the urethra to reach the prostate. Removal of the enlarged tissue usually relieves the blockage and urinary retention caused by benign prostatic hyperplasia. A urologist performs some procedures on an outpatient basis. Some men may require a hospital stay. In some cases, the urologist will remove the entire prostate using open surgery. Men will receive general anesthesia and have a longer hospital stay than for other surgical procedures. Men will also have a longer rehabilitation period for open surgery. + +More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia. + +Internal urethrotomy. A urologist can repair a urethral stricture by performing an internal urethrotomy. For this procedure, the urologist inserts a special catheter into the urethra until it reaches the stricture. The urologist then uses a knife or laser to make an incision that opens the stricture. The urologist performs an internal urethrotomy in an outpatient center or a hospital. The patient will receive general anesthesia. + +Cystocele or rectocele repair. Women may need surgery to lift a fallen bladder or rectum into its normal position. The most common procedure for cystocele and rectocele repair involves a urologist, who also specializes in the female reproductive system, making an incision in the wall of the vagina. Through the incision, the urologist looks for a defect or hole in the tissue that normally separates the vagina from the other pelvic organs. The urologist places stitches in the tissue to close up the defect and then closes the incision in the vaginal wall with more stitches, removing any extra tissue. These stitches tighten the layers of tissue that separate the organs, creating more support for the pelvic organs. A urologist or gynecologista doctor who specializes in the female reproductive systemperforms the surgery to repair a cystocele or rectocele in a hospital. Women will receive anesthesia. + +Tumor and cancer surgery. Removal of tumors and cancerous tissues in the bladder or urethra may reduce urethral obstruction and urinary retention.",NIDDK,Urinary Retention +What are the treatments for Urinary Retention ?,"Complications of urinary retention and its treatments may include + +- UTIs - bladder damage - kidney damage - urinary incontinence after prostate, tumor, or cancer surgery + +UTIs. Urine is normally sterile, and the normal flow of urine usually prevents bacteria from infecting the urinary tract. With urinary retention, the abnormal urine flow gives bacteria at the opening of the urethra a chance to infect the urinary tract. + +Bladder damage. If the bladder becomes stretched too far or for long periods, the muscles may be permanently damaged and lose their ability to contract. + +Kidney damage. In some people, urinary retention causes urine to flow backward into the kidneys. This backward flow, called reflux, may damage or scar the kidneys. + +Urinary incontinence after prostate, tumor, or cancer surgery. Transurethral surgery to treat benign prostatic hyperplasia may result in urinary incontinence in some men. This problem is often temporary. Most men recover their bladder control in a few weeks or months after surgery. Surgery to remove tumors or cancerous tissue in the bladder, prostate, or urethra may also result in urinary incontinence.",NIDDK,Urinary Retention +How to prevent Urinary Retention ?,"People can prevent urinary retention before it occurs by treating some of the potential causes. For example, men with benign prostatic hyperplasia should take prostate medications as prescribed by their health care provider. Men with benign prostatic hyperplasia should avoid medications associated with urinary retention, such as over-the-counter cold and allergy medications that contain decongestants. Women with mild cystocele or rectocele may prevent urinary retention by doing exercises to strengthen the pelvic muscles. In most cases, dietary and lifestyle changes will help prevent urinary retention caused by constipation. People whose constipation continues should see a health care provider. + +More information about exercises to strengthen the pelvic muscles is provided in the NIDDK health topic, Kegel Exercise Tips.",NIDDK,Urinary Retention +What to do for Urinary Retention ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing urinary retention.",NIDDK,Urinary Retention +What to do for Urinary Retention ?,"- Urinary retention is the inability to empty the bladder completely. - Urinary retention can be acute or chronic. - Urinary retention can result from - obstruction of the urethra - nerve problems - medications - weakened bladder muscles - The symptoms of acute urinary retention may include the following and require immediate medical attention: - inability to urinate - painful, urgent need to urinate - pain or discomfort in the lower abdomen - bloating of the lower abdomen - The symptoms of chronic urinary retention may include - urinary frequencyurination eight or more times a day - trouble beginning a urine stream - a weak or an interrupted urine stream - an urgent need to urinate with little success when trying to urinate - feeling the need to urinate after finishing urination - mild and constant discomfort in the lower abdomen and urinary tract - A health care provider diagnoses acute or chronic urinary retention with - a physical exam - postvoid residual measurement - A health care provider may use the following medical tests to help determine the cause of urinary retention: - cystoscopy - computerized tomography (CT) scans - urodynamic tests - electromyography - A health care provider treats urinary retention with - bladder drainage - urethral dilation - urethral stents - prostate medications - surgery - Complications of urinary retention and its treatments may include - urinary tract infections (UTIs) - bladder damage - kidney damage - urinary incontinence after prostate, tumor, or cancer surgery - People can prevent urinary retention before it occurs by treating some of the potential causes.",NIDDK,Urinary Retention +What is (are) Growth Failure in Children with Chronic Kidney Disease ?,"Growth failure is a complication of CKD in which children do not grow as expected. When a child is below the third percentilemeaning 97 percent of children the same age and gender are tallerhe or she has growth failure.1 CKD is kidney disease that does not go away with treatment and tends to get worse over time. + +Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. Growth charts for children use percentiles to compare a particular childs height with the height of children the same age and gender. For example, a child whose height is at the 50th percentile on a growth chart means half the children in the United States are taller than that child and half the children are shorter. + +About one-third of children with CKD have growth failure.1 Children diagnosed with CKD at a younger age + +- have a higher chance of developing growth failure - have more health issues related to growth failure and CKD",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What is (are) Growth Failure in Children with Chronic Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder.",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What causes Growth Failure in Children with Chronic Kidney Disease ?,"Researchers have found that many factors cause growth failure in children with CKD. In addition to removing wastes and extra fluid from the blood, the kidneys perform important functions for a childs growth. Understanding normal kidney function and growth helps families understand what causes growth failure in children with CKD. + +Normal kidney function helps maintain the + +- balance of nutrients and minerals, such as calcium and phosphorus, in the blood. These minerals are essential for normal bone growth. The kidneys use a hormone called calcitriol, a form of vitamin D, to help bones absorb the right amount of calcium from the blood. The kidneys also remove extra phosphorus, helping balance phosphorus and calcium levels in the blood. - bodys ability to use growth hormone. Growth hormone is necessary during childhood to help bones grow and stay healthy. The pituitary gland naturally produces growth hormone, which acts as a messenger to help the body grow. Growth hormone tells the liver to produce another hormone, called insulin-like growth factor, that travels to muscles, organs, and bones and tells them to grow. - correct levels of erythropoietin in the body. Erythropoietin is a hormone that helps bone marrow make red blood cells. - proper balance of sodium, also called salt; potassium; and acid-base levels in the blood. Acid-base balance refers to the amount of acid in the blood. + +Damaged kidneys can slow a childs growth by + +- causing mineral and bone disorder, which occurs when - vitamin D is not turned into calcitriol, which starves the bones of calcium. - phosphorus levels rise in the blood and draw calcium out of the bones and into the blood, causing the bones to weaken. - creating an imbalance of sodium, potassium, and acid-base levels in the blood, also called acidosis. When blood is not balanced, the body slows growth to focus energy on restoring the balance. - decreasing appetite. A child with CKD may not be hungry, or he or she may not have the energy to eat, which may lead to poor nutrition and slower growth. - decreasing the production of erythropoietin. When erythropoietin levels are low, a child may develop anemiaa condition that develops when the blood does not have enough healthy red blood cells to carry oxygen to cells throughout the body. Anemia can cause growth to slow or stop. - making an abnormally large amount of urine, called polyuria, which disrupts the bodys fluid balance. A child with polyuria loses minerals as well. The body slows growth to make up for the lost fluid and minerals. - preventing the body from correctly using growth hormone. When the kidneys are damaged, waste builds up in the blood and the body does not properly process growth hormone.",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What are the treatments for Growth Failure in Children with Chronic Kidney Disease ?,"Health care providers treat growth failure in children with CKD with + +- changes in eating, diet, and nutrition - medications - growth hormone therapy + +Most children with growth failure grow to about one-third of their adult height within the first two years of life; therefore, it is important to start treatment for growth failure early.1",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What to do for Growth Failure in Children with Chronic Kidney Disease ?,"Children with CKD may lose their appetite or lack the energy to eat. To treat growth failure in children, a health care provider may recommend dietary changes, such as + +- adding calcium. Children with CKD should get the recommended level of calcium for their age from their diet or from calcium supplements. - monitoring liquids. Balancing the childs liquid intake based on his or her kidney disease is important. Some children will need to increase liquid intake, while other children will need to restrict liquid intake. - limiting phosphorus. Children with CKD may need to limit phosphorus intake if they have mineral and bone disorder. - monitoring protein. Children with CKD should eat enough protein for growth; however, they should avoid high protein intake, which can put an extra burden on the kidneys. - monitoring sodium. The amount of sodium children with CKD need depends on the stage of their kidney disease, their age, and sometimes other factors. The health care provider may recommend either limiting or adding sodium, often from salt, to the childs diet. - adding vitamin D. Children who do not get enough vitamin D through diet may need to take vitamin D supplements. + +To help ensure coordinated and safe care, parents and caregivers should discuss the use of complementary and alternative medical practices, including the use of dietary supplements, with the childs health care provider. Read more at www.nccam.nih.gov. + +Some children will use a feeding tube to receive all their nutrition. A feeding tube is a small, soft plastic tube placed through the nose or mouth into the stomach. The child will receive supplements through the tube to provide a full supply of fluid and nutrients to help him or her grow and develop. Feeding tubes are most often used in infants; however, sometimes older children and adolescents benefit from them as well. + +Encouraging children to develop healthy eating habits can help prevent poor nutrition and promote healthy growing. The health care team will work with parents or caretakers to develop a healthy diet tailored to meet the needs of their child. + +More information about diet and kidney disease is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children. + +Medications + +A health care provider may prescribe medications that can help correct the underlying problems causing growth failure. + +- A health care provider may prescribe phosphate binders when phosphorus levels in the blood rise and interfere with bone formation and normal growth. In the intestine, the medications bind, or attach, to some of the phosphorus found in food, causing the phosphorus to move through the intestine without being absorbed and exit the body in the stool. This process can decrease blood phosphorus levels and increase blood calcium levels. Phosphate binders come as chewable tablets, liquids, capsules, and pills. - A health care provider may prescribe alkaline agents such as sodium bicarbonate to restore the acid-base balance in a child with acidosis. - Synthetic erythropoietin is a man-made form of erythropoietin given by injection to treat anemia. + +Growth Hormone Therapy + +When a health care provider diagnoses a child with CKD and the child begins to show signs of growth failure, the health care provider may prescribe daily human growth hormone injections. The injections are a man-made growth hormone that mimics the natural hormone found in the body. Researchers have shown that using growth hormone therapy is effective in helping children reach normal adult height. + +More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children.",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What to do for Growth Failure in Children with Chronic Kidney Disease ?,"- Growth failure is a complication of chronic kidney disease (CKD) in which children do not grow as expected. - Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. - Researchers have found that many factors cause growth failure in children with CKD. - Health care providers treat growth failure in children with CKD with - changes in eating, diet, and nutrition - medications - growth hormone therapy - Encouraging children to develop healthy eating habits can help prevent poor nutrition and promote healthy growing. - The health care team will work with parents or caretakers to develop a healthy diet tailored to meet the needs of their child. - When a health care provider diagnoses a child with CKD and the child begins to show signs of growth failure, the health care provider may prescribe daily human growth hormone injections.",NIDDK,Growth Failure in Children with Chronic Kidney Disease +What is (are) Urinary Incontinence in Men ?,"Urinary incontinence is the loss of bladder control, resulting in the accidental leakage of urine from the body. For example, a man may feel a strong, sudden need, or urgency, to urinate just before losing a large amount of urine, called urgency incontinence. + +UI can be slightly bothersome or totally debilitating. For some men, the chance of embarrassment keeps them from enjoying many activities, including exercising, and causes emotional distress. When people are inactive, they increase their chances of developing other health problems, such as obesity and diabetes.",NIDDK,Urinary Incontinence in Men +What is (are) Urinary Incontinence in Men ?,"The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. In order for normal urination to occur, all parts in the urinary tract need to work together in the correct order. + +Kidneys. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. The kidneys work around the clock; a person does not control what they do. + +Ureters. Ureters are the thin tubes of muscleone on each side of the bladderthat carry urine from each of the kidneys to the bladder. + +Bladder. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. Although a person does not control kidney function, a person does control when the bladder empties. Bladder emptying is known as urination. The bladder stores urine until the person finds an appropriate time and place to urinate. A normal bladder acts like a reservoir and can hold 1.5 to 2 cups of urine. How often a person needs to urinate depends on how quickly the kidneys produce the urine that fills the bladder. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. During urination, the bladder empties through the urethra, located at the bottom of the bladder. + +Three sets of muscles work together like a dam, keeping urine in the bladder between trips to the bathroom. + +The first set is the muscles of the urethra itself. The area where the urethra joins the bladder is the bladder neck. The bladder neck, composed of the second set of muscles known as the internal sphincter, helps urine stay in the bladder. The third set of muscles is the pelvic floor muscles, also referred to as the external sphincter, which surround and support the urethra. + +To urinate, the brain signals the muscular bladder wall to tighten, squeezing urine out of the bladder. At the same time, the brain signals the sphincters to relax. As the sphincters relax, urine exits the bladder through the urethra.",NIDDK,Urinary Incontinence in Men +What is (are) Urinary Incontinence in Men ?,"The prostate is a walnut-shaped gland that is part of the male reproductive system. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue. Located in front of the rectum and just below the bladder, the prostate surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen.",NIDDK,Urinary Incontinence in Men +What causes Urinary Incontinence in Men ?,"Urinary incontinence in men results when the brain does not properly signal the bladder, the sphincters do not squeeze strongly enough, or both. The bladder muscle may contract too much or not enough because of a problem with the muscle itself or the nerves controlling the bladder muscle. Damage to the sphincter muscles themselves or the nerves controlling these muscles can result in poor sphincter function. These problems can range from simple to complex. + +A man may have factors that increase his chances of developing UI, including + +- birth defectsproblems with development of the urinary tract - a history of prostate cancersurgery or radiation treatment for prostate cancer can lead to temporary or permanent UI in men + +UI is not a disease. Instead, it can be a symptom of certain conditions or the result of particular events during a mans life. Conditions or events that may increase a mans chance of developing UI include + +- benign prostatic hyperplasia (BPH)a condition in which the prostate is enlarged yet not cancerous. In men with BPH, the enlarged prostate presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty, leaving some urine in the bladder. The narrowing of the urethra and incomplete emptying of the bladder can lead to UI. - chronic coughinglong-lasting coughing increases pressure on the bladder and pelvic floor muscles. - neurological problemsmen with diseases or conditions that affect the brain and spine may have trouble controlling urination. - physical inactivitydecreased activity can increase a mans weight and contribute to muscle weakness. - obesityextra weight can put pressure on the bladder, causing a need to urinate before the bladder is full. - older agebladder muscles can weaken over time, leading to a decrease in the bladders capacity to store urine. + +More information is provided in the NIDDK health topics, Nerve Disease and Bladder Control and Prostate Enlargement: Benign Prostatic Hyperplasia.",NIDDK,Urinary Incontinence in Men +What is (are) Urinary Incontinence in Men ?,"The types of UI in men include + +- urgency incontinence - stress incontinence - functional incontinence - overflow incontinence - transient incontinence + +Urgency Incontinence + +Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, or urgency, to urinate. Involuntary bladder contractions are a common cause of urgency incontinence. Abnormal nerve signals might cause these bladder contractions. + +Triggers for men with urgency incontinence include drinking a small amount of water, touching water, hearing running water, or being in a cold environmenteven if for just a short whilesuch as reaching into the freezer at the grocery store. Anxiety or certain liquids, medications, or medical conditions can make urgency incontinence worse. + +The following conditions can damage the spinal cord, brain, bladder nerves, or sphincter nerves, or can cause involuntary bladder contractions leading to urgency incontinence: + +- Alzheimers diseasea disorder that affects the parts of the brain that control thought, memory, and language - injury to the brain or spinal cord that interrupts nerve signals to and from the bladder - multiple sclerosisa disease that damages the material that surrounds and protects nerve cells, which slows down or blocks messages between the brain and the body - Parkinsons diseasea disease in which the cells that make a chemical that controls muscle movement are damaged or destroyed - strokea condition in which a blocked or ruptured artery in the brain or neck cuts off blood flow to part of the brain and leads to weakness, paralysis, or problems with speech, vision, or brain function + +Urgency incontinence is a key sign of overactive bladder. Overactive bladder occurs when abnormal nerves send signals to the bladder at the wrong time, causing its muscles to squeeze without enough warning time to get to the toilet. More information is provided in the NIDDK health topic, Nerve Disease and Bladder Control. + +Stress Incontinence + +Stress incontinence results from movements that put pressure on the bladder and cause urine leakage, such as coughing, sneezing, laughing, or physical activity. In men, stress incontinence may also occur + +- after prostate surgery - after neurologic injury to the brain or spinal cord - after trauma, such as injury to the urinary tract - during older age + +Functional Incontinence + +Functional incontinence occurs when physical disability, external obstacles, or problems in thinking or communicating keep a person from reaching a place to urinate in time. For example, a man with Alzheimers disease may not plan ahead for a timely trip to a toilet. A man in a wheelchair may have difficulty getting to a toilet in time. Arthritispain and swelling of the jointscan make it hard for a man to walk to the restroom quickly or open his pants in time. + +Overflow Incontinence + +When the bladder doesnt empty properly, urine spills over, causing overflow incontinence. Weak bladder muscles or a blocked urethra can cause this type of incontinence. Nerve damage from diabetes or other diseases can lead to weak bladder muscles; tumors and urinary stones can block the urethra. Men with overflow incontinence may have to urinate often, yet they release only small amounts of urine or constantly dribble urine. + +Transient Incontinence + +Transient incontinence is UI that lasts a short time. Transient incontinence is usually a side effect of certain medications, drugs, or temporary conditions, such as + +- a urinary tract infection (UTI), which can irritate the bladder and cause strong urges to urinate - caffeine or alcohol consumption, which can cause rapid filling of the bladder - chronic coughing, which can put pressure on the bladder - constipationhard stool in the rectum can put pressure on the bladder - blood pressure medications that can cause increased urine production - short-term mental impairment that reduces a mans ability to care for himself - short-term restricted mobility",NIDDK,Urinary Incontinence in Men +How many people are affected by Urinary Incontinence in Men ?,"Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. Men are also less likely to speak with a health care professional about UI, so UI in men is probably far more common than statistics show. Having a discussion with a health care professional about UI is the first step to fixing this treatable problem.",NIDDK,Urinary Incontinence in Men +How to diagnose Urinary Incontinence in Men ?,"Men should tell a health care professional, such as a family practice physician, a nurse, an internist, or a urologista doctor who specializes in urinary problemsthey have UI, even if they feel embarrassed. To diagnose UI, the health care professional will + +- take a medical history - conduct a physical exam - order diagnostic tests + +Medical History + +Taking a medical history can help a health care professional diagnose UI. He or she will ask the patient or caretaker to provide a medical history, a review of symptoms, a description of eating habits, and a list of prescription and over-the-counter medications the patient is taking. The health care professional will ask about current and past medical conditions. + +The health care professional also will ask about the mans pattern of urination and urine leakage. To prepare for the visit with the health care professional, a man may want to keep a bladder diary for several days beforehand. Information that a man should record in a bladder diary includes + +- the amount and type of liquid he drinks - how many times he urinates each day and how much urine is released - how often he has accidental leaks - whether he felt a strong urge to go before leaking - what he was doing when the leak occurred, for example, coughing or lifting - how long the symptoms have been occurring + +Use the Daily Bladder Diary to prepare for the appointment. + +The health care professional also may ask about other lower urinary tract symptoms that may indicate a prostate problem, such as + +- problems starting a urine stream - problems emptying the bladder completely - spraying urine - dribbling urine - weak stream - recurrent UTIs - painful urination + +Physical Exam + +A physical exam may help diagnose UI. The health care professional will perform a physical exam to look for signs of medical conditions that may cause UI. The health care professional may order further neurologic testing if necessary. + +Digital rectal exam. The health care professional also may perform a digital rectal exam. A digital rectal exam is a physical exam of the prostate and rectum. To perform the exam, the health care professional has the man bend over a table or lie on his side while holding his knees close to his chest. The health care professional slides a gloved, lubricated finger into the patients rectum and feels the part of the prostate that lies in front of the rectum. The digital rectal exam is used to check for stool or masses in the rectum and to assess whether the prostate is enlarged or tender, or has other abnormalities. The health care professional may perform a prostate massage during a digital rectal exam to collect a sample of prostate fluid that he or she can test for signs of infection. + +The health care professional may diagnose the type of UI based on the medical history and physical exam, or he or she may use the findings to determine if a man needs further diagnostic testing. + +Diagnostic Tests + +The health care professional may order one or more of the following diagnostic tests based on the results of the medical history and physical exam: + +- Urinalysis. Urinalysis involves testing a urine sample. The patient collects a urine sample in a special container at home, at a health care professionals office, or at a commercial facility. A health care professional tests the sample during an office visit or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color to indicate signs of infection in urine. - Urine culture. A health care professional performs a urine culture by placing part of a urine sample in a tube or dish with a substance that encourages any bacteria present to grow. A man collects the urine sample in a special container in a health care professionals office or a commercial facility. The office or facility tests the sample onsite or sends it to a lab for culture. A health care professional can identify bacteria that multiply, usually in 1 to 3 days. A health care professional performs a urine culture to determine the best treatment when urinalysis indicates the man has a UTI. More information is provided in the NIDDK health topic, Urinary Tract Infections in Adults. - Blood test. A blood test involves drawing blood at a health care professionals office or a commercial facility and sending the sample to a lab for analysis. The blood test can show kidney function problems or a chemical imbalance in the body. The lab also will test the blood to assess the level of prostate-specific antigen, a protein produced by prostate cells that may be higher in men with prostate cancer. - Urodynamic testing. Urodynamic testing includes a variety of procedures that look at how well the bladder and urethra store and release urine. A health care professional performs urodynamic tests during an office visit or in an outpatient center or a hospital. Some urodynamic tests do not require anesthesia; others may require local anesthesia. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely; they may include the following: - uroflowmetry, which measures how rapidly the bladder releases urine - postvoid residual measurement, which evaluates how much urine remains in the bladder after urination - reduced urine flow or residual urine in the bladder, which often suggests urine blockage due to BPH + +More information is provided in the NIDDK health topic, Urodynamic Testing.",NIDDK,Urinary Incontinence in Men +What are the treatments for Urinary Incontinence in Men ?,"Treatment depends on the type of UI. + +Urgency Incontinence + +As a first line of therapy for urgency incontinence, a health care professional may recommend the following techniques to treat a mans problem: + +- behavioral and lifestyle changes - bladder training - pelvic floor exercises - urgency suppression + +If those treatments are not successful, the following additional measures may help urgency incontinence: + +- medications - electrical nerve stimulation - bulking agents - surgery + +A health care professional may recommend other treatments for men with urgency incontinence caused by BPH. More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia. + +Behavioral and lifestyle changes. Men with urgency incontinence may be able to reduce leaks by making behavioral and lifestyle changes: + +- Eating, diet, and nutrition. Men with urgency incontinence can change the amount and type of liquid they drink. A man can try limiting bladder irritantsincluding caffeinated drinks such as tea or coffee and carbonated beveragesto decrease leaks. Men also should limit alcoholic drinks, which can increase urine production. A health care professional can help a man determine how much he should drink based on his health, how active he is, and where he lives. To decrease nighttime trips to the restroom, men may want to stop drinking liquids several hours before bed. - Engaging in physical activity. Although a man may be reluctant to engage in physical activity when he has urgency incontinence, regular exercise is important for good overall health and for preventing and treating UI. - Losing weight. Men who are overweight should talk with a health care professional about strategies for losing weight, which can help improve UI. - Preventing constipation. Gastrointestinal (GI) problems, especially constipation, can make urinary tract health worse and can lead to UI. The opposite is also true: Urinary problems, such as UI, can make GI problems worse. More information about how to prevent constipation through diet and physical activity is provided in the NIDDK health topic, Constipation. + + + +To Help Prevent Bladder Problems, Stop Smoking People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. People who smoke for many years have a higher risk of bladder cancer than nonsmokers or those who smoke for a short time.2 People who smoke should ask for help so they do not have to try quitting alone. Call 1-800-QUITNOW (1-800-784-8669) for more information. + +Bladder training. Bladder training is changing urination habits to decrease incidents of UI. The health care professional may suggest a man use the restroom at regular timed intervals, called timed voiding, based on the mans bladder diary. A man can gradually lengthen the time between trips to the restroom to help stretch the bladder so it can hold more urine. + +Pelvic floor muscle exercises. Pelvic floor muscle, or Kegel, exercises involve strengthening pelvic floor muscles. Strong pelvic floor muscles hold in urine more effectively than weak muscles. A man does not need special equipment for Kegel exercises. The exercises involve tightening and relaxing the muscles that control urine flow. Pelvic floor exercises should not be performed during urination. A health care professional can help a man learn proper technique. More information is provided in the NIDDK health topic, Kegel Exercise Tips. + +Men also may learn how to perform Kegel exercises properly by using biofeedback. Biofeedback uses special sensors to measure bodily functions, such as muscle contractions that control urination. A video monitor displays the measurements as graphs, and sounds indicate when the man is using the correct muscles. The health care professional uses the information to help the man change abnormal function of the pelvic floor muscles. At home, the man practices to improve muscle function. The man can perform the exercises while lying down, sitting at a desk, or standing up. Success with pelvic floor exercises depends on the cause of UI, its severity, and the mans ability to perform the exercises. + +Urgency suppression. By using certain techniques, a man can suppress the urge to urinate, called urgency suppression. Urgency suppression is a way for a man to train his bladder to maintain control so he does not have to panic about finding a restroom. Some men use distraction techniques to take their mind off the urge to urinate. Other men find taking long, relaxing breaths and being still can help. Doing pelvic floor exercises also can help suppress the urge to urinate. + +Medications. Health care professionals may prescribe medications that relax the bladder, decrease bladder spasms, or treat prostate enlargement to treat urgency incontinence in men. + +- Antimuscarinics. Antimuscarinics can help relax bladder muscles and prevent bladder spasms. These medications include oxybutynin (Oxytrol), tolterodine (Detrol), darifenacin (Enablex), trospium (Sanctura), fesoterodine (Toviaz), and solifenacin (VESIcare). They are available in pill, liquid, and patch form. - Tricyclic antidepressants. Tricyclic antidepressants such as imipramine (Tofranil) can calm nerve signals, decreasing spasms in bladder muscles. - Alpha-blockers. Terazosin (Hytrin), doxazosin (Cardura), tamsulosin (Flomax), alfuzosin (Uroxatral), and silodosin (Rapaflo) are used to treat problems caused by prostate enlargement and bladder outlet obstruction. These medications relax the smooth muscle of the prostate and bladder neck, which lets urine flow normally and prevents abnormal bladder contractions that can lead to urgency incontinence. - 5-alpha reductase inhibitors. Finasteride (Proscar) and dutasteride (Avodart) block the production of the male hormone dihydrotestosterone, which accumulates in the prostate and may cause prostate growth. These medications may help to relieve urgency incontinence problems by shrinking an enlarged prostate. - Beta-3 agonists. Mirabegron (Myrbetriq) is a beta-3 agonist a person takes by mouth to help prevent symptoms of urgency incontinence. Mirabegron suppresses involuntary bladder contractions. - Botox. A health care professional may use onabotulinumtoxinA (Botox), also called botulinum toxin type A, to treat UI in men with neurological conditions such as spinal cord injury or multiple sclerosis. Injecting Botox into the bladder relaxes the bladder, increasing storage capacity and decreasing UI. A health care professional performs the procedure during an office visit. A man receives local anesthesia. The health care professional uses a cystoscope to guide the needle for injecting the Botox. Botox is effective for up to 10 months.3 + +Electrical nerve stimulation. If behavioral and lifestyle changes and medications do not improve symptoms, a urologist may suggest electrical nerve stimulation as an option to prevent UI, urinary frequencyurination more often than normaland other symptoms. Electrical nerve stimulation involves altering bladder reflexes using pulses of electricity. The two most common types of electrical nerve stimulation are percutaneous tibial nerve stimulation and sacral nerve stimulation.4 + +- Percutaneous tibial nerve stimulation uses electrical stimulation of the tibial nerve, which is located in the ankle, on a weekly basis. The patient receives local anesthesia for the procedure. In an outpatient center, a urologist inserts a battery-operated stimulator beneath the skin near the tibial nerve. Electrical stimulation of the tibial nerve prevents bladder activity by interfering with the pathway between the bladder and the spinal cord or brain. Although researchers consider percutaneous tibial nerve stimulation safe, they continue to study the exact ways that it prevents symptoms and how long the treatment can last. - Sacral nerve stimulation involves implanting a battery-operated stimulator beneath the skin in the lower back near the sacral nerve. The procedure takes place in an outpatient center using local anesthesia. Based on the patients feedback, the health care professional can adjust the amount of stimulation so it works best for that individual. The electrical pulses enter the body for minutes to hours, two or more times a day, either through wires placed on the lower back or just above the pubic areabetween the navel and the pubic hair. Sacral nerve stimulation may increase blood flow to the bladder, strengthen pelvic muscles that help control the bladder, and trigger the release of natural substances that block pain. The patient can turn the stimulator on or off at any time. + +A patient may consider getting an implanted device that delivers regular impulses to the bladder. A urologist places a wire next to the tailbone and attaches it to a permanent stimulator under the skin. + +Bulking agents. A urologist injects bulking agents, such as collagen and carbon spheres, near the urinary sphincter to treat incontinence. The bulking agent makes the tissues thicker and helps close the bladder opening. Before the procedure, the health care professional may perform a skin test to make sure the man doesnt have an allergic reaction to the bulking agent. A urologist performs the procedure during an office visit. The man receives local anesthesia. The urologist uses a cystoscopea tubelike instrument used to look inside the urethra and bladderto guide the needle for injection of the bulking agent. Over time, the body may slowly eliminate certain bulking agents, so a man may need to have injections again. + +Surgery. As a last resort, surgery to treat urgency incontinence in men includes the artificial urinary sphincter (AUS) and the male sling. A health care professional performs the surgery in a hospital with regional or general anesthesia. Most men can leave the hospital the same day, although some may need to stay overnight. + +- AUS. An AUS is an implanted device that keeps the urethra closed until the man is ready to urinate. The device has three parts: a cuff that fits around the urethra, a small balloon reservoir placed in the abdomen, and a pump placed in the scrotumthe sac that holds the testicles. The cuff contains a liquid that makes it fit tightly around the urethra to prevent urine from leaking. When it is time to urinate, the man squeezes the pump with his fingers to deflate the cuff. The liquid moves to the balloon reservoir and lets urine flow through the urethra. When the bladder is empty, the cuff automatically refills in the next 2 to 5 minutes to keep the urethra tightly closed. - Male sling. A health care professional performs a sling procedure, also called urethral compression procedure, to add support to the urethra, which can sometimes better control urination. Through an incision in the tissue between the scrotum and the rectum, also called the perineum, the health care professional uses a piece of human tissue or mesh to compress the urethra against the pubic bone. The surgeon secures the ends of the tissue or mesh around the pelvic bones. The lifting and compression of the urethra sometimes provides better control over urination. + +Stress Incontinence + +Men who have stress incontinence can use the same techniques for treating urgency incontinence. + +Functional Incontinence + +Men with functional incontinence may wear protective undergarments if they worry about reaching a restroom in time. These products include adult diapers or pads and are available from drugstores, grocery stores, and medical supply stores. Men who have functional incontinence should talk to a health care professional about its cause and how to prevent or treat functional incontinence. + +Overflow Incontinence + +A health care professional treats overflow incontinence caused by a blockage in the urinary tract with surgery to remove the obstruction. Men with overflow incontinence that is not caused by a blockage may need to use a catheter to empty the bladder. A catheter is a thin, flexible tube that is inserted through the urethra into the bladder to drain urine. A health care professional can teach a man how to use a catheter. A man may need to use a catheter once in a while, a few times a day, or all the time. Catheters that are used continuously drain urine from the bladder into a bag that is attached to the mans thigh with a strap. Men using a continuous catheter should watch for symptoms of an infection. + +Transient Incontinence + +A health care professional treats transient incontinence by addressing the underlying cause. For example, if a medication is causing increased urine production leading to UI, a health care professional may try lowering the dose or prescribing a different medication. A health care professional may prescribe bacteria-fighting medications called antibiotics to treat UTIs.",NIDDK,Urinary Incontinence in Men +How to prevent Urinary Incontinence in Men ?,"People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. People who smoke for many years have a higher risk of bladder cancer than nonsmokers or those who smoke for a short time.2 People who smoke should ask for help so they do not have to try quitting alone. Call 1-800-QUITNOW (1-800-784-8669) for more information.",NIDDK,Urinary Incontinence in Men +What to do for Urinary Incontinence in Men ?,"- Urinary incontinence (UI) is the loss of bladder control, resulting in the accidental leakage of urine from the body. - The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. - Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. - To urinate, the brain signals the muscular bladder wall to tighten, squeezing urine out of the bladder. At the same time, the brain signals the sphincters to relax. As the sphincters relax, urine exits the bladder through the urethra. - UI results when the brain does not properly signal the bladder, the sphincters do not squeeze strongly enough, or both. - Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, or urgency, to urinate. - Stress incontinence results from movements that put pressure on the bladder and cause urine leakage, such as coughing, sneezing, laughing, or physical activity. - Functional incontinence occurs when physical disability, external obstacles, or problems in thinking or communicating keep a person from reaching a place to urinate in time. - When the bladder doesnt empty properly, urine spills over, causing overflow incontinence. Weak bladder muscles or a blocked urethra can cause this type of incontinence. - Transient incontinence is UI that lasts a short time. Transient incontinence is usually a side effect of certain medications, drugs, or temporary conditions. - UI occurs in 11 to 34 percent of older men. - Men should tell a health care professional, such as a family practice physician, a nurse, an internist, or a urologist, they have UI, even if they feel embarrassed. - Treatment depends on the type of UI. Some types of treatment include behavioral and lifestyle changes, bladder training, pelvic floor exercises, and urgency suppression. - People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health.",NIDDK,Urinary Incontinence in Men +What are the treatments for Analgesic Nephropathy (Painkillers and the Kidneys) ?,"If you have been taking analgesics regularly to control chronic pain, you may be advised to find new ways to treat your pain, such as behavior modification or relaxation techniques. Depending on how much your kidney function has declined, you may be advised to change your diet, limit the fluids you drink, or take medications to avoid anemia and bone problems caused by kidney disease. Your doctor will monitor your kidney function with regular urine and blood tests.",NIDDK,Analgesic Nephropathy (Painkillers and the Kidneys) +What is (are) Nephrotic Syndrome in Adults ?,"Nephrotic syndrome is a collection of symptoms that indicate kidney damage. Nephrotic syndrome includes the following: + +- proteinurialarge amounts of protein in the urine - hyperlipidemiahigher than normal fat and cholesterol levels in the blood - edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face - hypoalbuminialow levels of albumin in the blood + +Albumin is a protein that acts like a sponge, drawing extra fluid from the body into the bloodstream where it remains until removed by the kidneys. When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body, causing edema. + +Nephrotic syndrome results from a problem with the kidneys filters, called glomeruli. Glomeruli are tiny blood vessels in the kidneys that remove wastes and excess fluids from the blood and send them to the bladder as urine. + +As blood passes through healthy kidneys, the glomeruli filter out the waste products and allow the blood to retain cells and proteins the body needs. However, proteins from the blood, such as albumin, can leak into the urine when the glomeruli are damaged. In nephrotic syndrome, damaged glomeruli allow 3 grams or more of protein to leak into the urine when measured over a 24-hour period, which is more than 20 times the amount that healthy glomeruli allow.",NIDDK,Nephrotic Syndrome in Adults +What causes Nephrotic Syndrome in Adults ?,"Nephrotic syndrome can be caused by diseases that affect only the kidneys, such as focal segmental glomerulosclerosis (FSGS) or membranous nephropathy. Diseases that affect only the kidneys are called primary causes of nephrotic syndrome. The glomeruli are usually the targets of these diseases for reasons that are not fully understood. In FSGSthe most common primary cause of nephrotic syndromescar tissue forms in parts of the glomeruli. In membranous nephropathy, immune molecules form harmful deposits on the glomeruli. + +Nephrotic syndrome can also be caused by systemic diseases, which are diseases that affect many parts of the body, such as diabetes or lupus. Systemic diseases that affect the kidneys are called secondary causes of nephrotic syndrome. More than 50 percent of nephrotic syndrome cases in adults have secondary causes, with diabetes being the most common.1",NIDDK,Nephrotic Syndrome in Adults +What are the symptoms of Nephrotic Syndrome in Adults ?,"In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience + +- weight gain - fatigue - foamy urine - loss of appetite",NIDDK,Nephrotic Syndrome in Adults +What are the complications of Nephrotic Syndrome in Adults ?,"The loss of different proteins from the body can lead to a variety of complications in people with nephrotic syndrome. Blood clots can form when proteins that normally prevent them are lost through the urine. Blood clots can block the flow of blood and oxygen through a blood vessel. Loss of immunoglobulinsimmune system proteins that help fight disease and infectionleads to an increased risk of infections. These infections include pneumonia, a lung infection; cellulitis, a skin infection; peritonitis, an abdominal infection; and meningitis, a brain and spine infection. Medications given to treat nephrotic syndrome can also increase the risk of these infections. Other complications of nephrotic syndrome include + +- hypothyroidisma condition in which the thyroid gland does not produce enough thyroid hormone to meet the bodys needs - anemiaa condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells - coronary artery disease, also called coronary heart diseaseheart disease caused by narrowing of the arteries that supply blood to the heart - high blood pressure, also called hypertensiona condition in which blood flows through the blood vessels with a force greater than normal - acute kidney injurysudden and temporary loss of kidney function",NIDDK,Nephrotic Syndrome in Adults +How to diagnose Nephrotic Syndrome in Adults ?,"Urine samples are taken to diagnose people suspected of having nephrotic syndrome. + +Nephrotic syndrome is diagnosed when large amounts of protein are found in the urine. The blood protein albumin makes up much of the protein that is lost, though many other important proteins are also lost in nephrotic syndrome. + +The presence of albumin in the urine can be detected with a dipstick test performed on a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein is present in urine. + +A more precise measurement is usually needed to confirm the diagnosis. Either a single urine sample or a 24-hour collection of urine can be sent to a lab for analysis. With the single urine sample, the lab measures both albumin and creatinine, a waste product of normal muscle breakdown. The comparison of the measurements is called a urine albumin-to-creatinine ratio. A urine sample containing more than 30 milligrams of albumin for each gram of creatinine may signal a problem. With a 24-hour collection of urine, the lab measures only the amount of albumin present. The single urine sample is easier to collect than the 24-hour sample and is usually sufficient to confirm diagnosis, though the 24-hour collection may be used in some cases. + +Once nephrotic syndrome is diagnosed, blood tests are usually needed to check for systemic diseases that may be causing the nephrotic syndrome and to find out how well the kidneys are working overall. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. + +Though blood tests can point toward systemic diseases, a kidney biopsy is usually needed to diagnose the specific underlying disease causing the nephrotic syndrome and to determine the best treatment. A kidney biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. Kidney biopsies are performed by a health care provider in a hospital with light sedation and local anesthetic. A biopsy is often not needed for a person with diabetes because the persons medical history and lab tests may be enough to diagnose the problem as being a result of diabetes.",NIDDK,Nephrotic Syndrome in Adults +What are the treatments for Nephrotic Syndrome in Adults ?,"Treating nephrotic syndrome includes addressing the underlying cause as well as taking steps to reduce high blood pressure, edema, high cholesterol, and the risks of infection. Treatment usually includes medications and changes in diet. + +Medications that lower blood pressure can also significantly slow the progression of kidney disease causing nephrotic syndrome. Two types of blood pressure lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease by reducing the pressure inside the glomeruli and thereby reducing proteinuria. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretica medication that aids the kidneys in removing fluid from the bloodcan also be useful in helping to reduce blood pressure as well as edema. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed. + +Statin medications may be given to lower cholesterol. + +People with nephrotic syndrome should receive the pneumococcal vaccine, which helps protect against a bacterium that commonly causes infection, and yearly flu shots. + +Blood thinning medications are usually only given to people with nephrotic syndrome who develop a blood clot; these medications are not used as a preventive measure. + +Nephrotic syndrome may go away once the underlying cause has been treated. More information about treating the underlying causes of nephrotic syndrome is provided in the NIDDK health topic, Glomerular Diseases.",NIDDK,Nephrotic Syndrome in Adults +What to do for Nephrotic Syndrome in Adults ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing nephrotic syndrome in adults. For people who have developed nephrotic syndrome, limiting intake of dietary sodium, often from salt, and fluid may be recommended to help reduce edema. A diet low in saturated fat and cholesterol may also be recommended to help control hyperlipidemia.",NIDDK,Nephrotic Syndrome in Adults +What to do for Nephrotic Syndrome in Adults ?,"- Nephrotic syndrome includes the following: - proteinurialarge amounts of protein in the urine - hyperlipidemiahigher than normal fat and cholesterol levels in the blood - edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face - hypoalbuminialow levels albumin in the blood - Primary causes of nephrotic syndrome are diseases that affect only the kidneys, such as focal segmental glomerulosclerosis (FSGS). Secondary causes of nephrotic syndrome are diseases that affect many parts of the body, such as diabetes. - In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience - weight gain - fatigue - foamy urine - loss of appetite - The loss of different proteins from the body can lead to a variety of complications in people with nephrotic syndrome. - Treating nephrotic syndrome includes addressing the underlying cause and taking steps to reduce high blood pressure, edema, high cholesterol, and the risks of infection. Treatment usually includes medications and changes in diet.",NIDDK,Nephrotic Syndrome in Adults +What to do for What I need to know about Physical Activity and Diabetes ?,"- Starting a physical activity program can help you lose weight or keep a healthy weight and keep your blood glucose levels on target. - Always talk with your health care team before you start a new physical activity program. - Ask your health care team if you need to change the amount of medicine you take or the food you eat before any physical activity. - Talk with your health care team about what types of physical activity are safe for you, such as walking, weightlifting, or housework. - To make sure you stay active, find activities you like to do. Ask a friend or family member to be your exercise buddy. - Write down your blood glucose levels and when and how long you are physically active in a record book. - Doctors suggest that you aim for 30 to 60 minutes of moderate to vigorous physical activity most days of the week. - Children and adolescents with type 2 diabetes who are 10 to 17 years old should aim for 60 minutes of moderate to vigorous activity every day. - Not all physical activity has to take place at the same time. For example, you might take a walk for 20 minutes, lift hand weights for 10 minutes, and walk up and down the stairs for 5 minutes. - Doing moderate to vigorous aerobic exercise for 30 to 60 minutes a day most days of the week provides many benefits. You can even split up these minutes into several parts. - Start exercising slowly, with 5 to 10 minutes a day, and add a little more time each week. Try walking briskly, hiking, or climbing stairs. - Whether youre a man or a woman, you can do strength training with hand weights, elastic bands, or weight machines two to three times a week. - Stretching exercises are a light to moderate physical activity that both men and women can do. When you stretch, you increase your flexibility, lower your stress, and help prevent sore muscles. - Increase daily activity by spending less time watching TV or at the computer. - Try these simple ways to add light, moderate, or vigorous physical activities in your life every day: - Walk around while you talk on the phone. - Take a walk through your neighborhood. - Do chores, such as work in the garden or rake leaves, clean the house, or wash the car. - If you have type 1 diabetes, try not to do vigorous physical activity when you have ketones in your blood or urine.",NIDDK,What I need to know about Physical Activity and Diabetes +What is (are) Pyelonephritis: Kidney Infection ?,Pyelonephritis is a type of urinary tract infection (UTI) that affects one or both kidneys.,NIDDK,Pyelonephritis: Kidney Infection +What is (are) Pyelonephritis: Kidney Infection ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. Children produce less urine than adults. The amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called the ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.",NIDDK,Pyelonephritis: Kidney Infection +What causes Pyelonephritis: Kidney Infection ?,"Pyelonephritis is caused by a bacterium or virus infecting the kidneys. Though many bacteria and viruses can cause pyelonephritis, the bacterium Escherichia coli is often the cause. Bacteria and viruses can move to the kidneys from the bladder or can be carried through the bloodstream from other parts of the body. A UTI in the bladder that does not move to the kidneys is called cystitis.",NIDDK,Pyelonephritis: Kidney Infection +Who is at risk for Pyelonephritis: Kidney Infection? ?,"People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tract, a kidney stone, or an enlarged prostatethe walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. Urine can also back up, or reflux, into one or both kidneys. This problem, which is called vesicoureteral reflux (VUR), happens when the valve mechanism that normally prevents backward flow of urine is not working properly. VUR is most commonly diagnosed during childhood. Pregnant women and people with diabetes or a weakened immune system are also at increased risk of pyelonephritis.",NIDDK,Pyelonephritis: Kidney Infection +What are the symptoms of Pyelonephritis: Kidney Infection ?,"Symptoms of pyelonephritis can vary depending on a persons age and may include the following: + +- fever - vomiting - back, side, and groin pain - chills - nausea - frequent, painful urination + +Children younger than 2 years old may only have a high fever without symptoms related to the urinary tract. Older people may not have any symptoms related to the urinary tract either; instead, they may exhibit confusion, disordered speech, or hallucinations.",NIDDK,Pyelonephritis: Kidney Infection +What are the complications of Pyelonephritis: Kidney Infection ?,"Most people with pyelonephritis do not have complications if appropriately treated with bacteria-fighting medications called antibiotics. + +In rare cases, pyelonephritis may cause permanent kidney scars, which can lead to chronic kidney disease, high blood pressure, and kidney failure. These problems usually occur in people with a structural problem in the urinary tract, kidney disease from other causes, or repeated episodes of pyelonephritis. + +Infection in the kidneys may spread to the bloodstreama serious condition called sepsisthough this is also uncommon.",NIDDK,Pyelonephritis: Kidney Infection +How to diagnose Pyelonephritis: Kidney Infection ?,"The tests used to diagnose pyelonephritis depend on the patients age, gender, and response to treatment and include the following: + +- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. The presence of white blood cells and bacteria in the urine indicate infection. - Urine culture. A urine culture is performed by placing part of a urine sample in a tube or dish with a substance that encourages any bacteria present to grow. The urine sample is collected in a special container in a health care providers office or commercial facility and sent to a lab for culture. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. The health care provider can then determine the best treatment. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show obstructions in the urinary tract. Ultrasound is often used for people who do not respond to treatment within 72 hours. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. CT scans can show obstructions in the urinary tract. The test is often used for people who do not respond to treatment within 72 hours. - Voiding cystourethrogram (VCUG). A VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The procedure is performed in an outpatient center or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some people. The bladder and urethra are filled with contrast medium to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the person urinates. This test can show abnormalities of the inside of the urethra and bladder and is usually used to detect VUR in children. - Digital rectal examination (DRE). A DRE is a physical exam of the prostate that is performed in the health care providers office. Anesthesia is not needed. To perform the exam, the health care provider asks the person to bend over a table or lie on his side while holding his knees close to his chest. The health care provider slides a gloved, lubricated finger into the rectum and feels the part of the prostate that lies in front of the rectum. Men with suspected pyelonephritis may have a DRE to determine whether a swollen prostate may be obstructing the neck of the bladder. - Dimercaptosuccinic acid (DMSA) scintigraphy. DMSA scintigraphy is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive material. Because the dose of radioactive material is small, the risk of causing damage to cells is low. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Radioactive material is injected into a vein in the persons arm and travels through the body to the kidneys. Special cameras and computers are used to create images of the radioactive material as it passes through the kidneys. The radioactive material makes the parts of the kidney that are infected or scarred stand out on the image. DMSA scintigraphy is used to show the severity of kidney infection or kidney damage, such as scarring.",NIDDK,Pyelonephritis: Kidney Infection +What are the treatments for Pyelonephritis: Kidney Infection ?,"Pyelonephritis is treated with antibiotics, which may need to be taken for several weeks. While a urine sample is sent to a lab for culture, the health care provider may begin treatment with an antibiotic that fights the most common types of bacteria. Once culture results are known and the bacteria is clearly identified, the health care provider may switch the antibiotic to one that more effectively targets the bacteria. Antibiotics may be given through a vein, orally, or both. Urinary tract obstructions are often treated with surgery. + +Severely ill patients may be hospitalized and limited to bed rest until they can take the fluids and medications they need on their own. Fluids and medications may be given intravenously during this time. + +In adults, repeat urine cultures should be performed after treatment has ended to make sure the infection does not recur. If a repeat test shows infection, another 14-day course of antibiotics is prescribed; if infection recurs again, antibiotics are prescribed for 6 weeks.",NIDDK,Pyelonephritis: Kidney Infection +What to do for Pyelonephritis: Kidney Infection ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing pyelonephritis.",NIDDK,Pyelonephritis: Kidney Infection +What to do for Pyelonephritis: Kidney Infection ?,"- Pyelonephritis is a type of urinary tract infection that affects one or both kidneys. - Pyelonephritis is caused by a bacterium or virus infecting the kidneys. Though many bacteria and viruses can cause pyelonephritis, the bacterium Escherichia coli is often the cause. Bacteria and viruses can move to the kidneys from the bladder or can be carried through the bloodstream from other parts of the body. - Symptoms of pyelonephritis can vary depending on a persons age and may include the following: - fever - vomiting - back, side, and groin pain - chills - nausea - frequent, painful urination - Children younger than 2 years old may only have a high fever without symptoms related to the urinary tract. Older people may not have any symptoms related to the urinary tract either; instead, they may exhibit confusion, disordered speech, or hallucinations. - Most people with pyelonephritis do not have complications if appropriately treated with bacteria-fighting medications called antibiotics.",NIDDK,Pyelonephritis: Kidney Infection +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. All these foods add to your fluid intake. + +Fluid can build up between dialysis sessions, causing swelling and weight gain. The extra fluid affects your blood pressure and can make your heart work harder. You could have serious heart trouble from overloading your system with fluid. + +Control Your Thirst The best way to reduce fluid intake is to reduce thirst caused by the salt you eat. Avoid salty foods like chips and pretzels. Choose low-sodium products. You can keep your fluids down by drinking from smaller cups or glasses. Freeze juice in an ice cube tray and eat it like a popsicle. (Remember to count the popsicle in your fluid allowance!) The dietitian will be able to give you other tips for managing your thirst. + +Your dry weight is your weight after a dialysis session when all of the extra fluid in your body has been removed. If you let too much fluid build up between sessions, it is harder to get down to your proper dry weight. Your dry weight may change over a period of 3 to 6 weeks. Talk with your doctor regularly about what your dry weight should be. + +My dry weight should be _____________. + +Talk With a Dietitian Even though you are on hemodialysis, your kidneys may still be able to remove some fluid. Or your kidneys may not remove any fluid at all. That is why every patient has a different daily allowance for fluid. Talk with your dietitian about how much fluid you can have each day. I can have _____ ounces of fluid each day. Plan 1 day of fluid servings: I can have _____ ounce(s) of ______________ with breakfast. I can have _____ ounce(s) of ______________ in the morning. I can have _____ ounce(s) of ______________ with lunch. I can have _____ ounce(s) of ______________ in the afternoon. I can have _____ ounce(s) of ______________ with supper. I can have _____ ounce(s) of ______________ in the evening. TOTAL _______ ounces (should equal the allowance written above)",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. All these foods add to your fluid intake. + +Fluid can build up between dialysis sessions, causing swelling and weight gain. The extra fluid affects your blood pressure and can make your heart work harder. You could have serious heart trouble from overloading your system with fluid. + +Control Your Thirst The best way to reduce fluid intake is to reduce thirst caused by the salt you eat. Avoid salty foods like chips and pretzels. Choose low-sodium products. You can keep your fluids down by drinking from smaller cups or glasses. Freeze juice in an ice cube tray and eat it like a popsicle. (Remember to count the popsicle in your fluid allowance!) The dietitian will be able to give you other tips for managing your thirst. + +Your dry weight is your weight after a dialysis session when all of the extra fluid in your body has been removed. If you let too much fluid build up between sessions, it is harder to get down to your proper dry weight. Your dry weight may change over a period of 3 to 6 weeks. Talk with your doctor regularly about what your dry weight should be. + +My dry weight should be _____________. + +Talk With a Dietitian Even though you are on hemodialysis, your kidneys may still be able to remove some fluid. Or your kidneys may not remove any fluid at all. That is why every patient has a different daily allowance for fluid. Talk with your dietitian about how much fluid you can have each day. I can have _____ ounces of fluid each day. Plan 1 day of fluid servings: I can have _____ ounce(s) of ______________ with breakfast. I can have _____ ounce(s) of ______________ in the morning. I can have _____ ounce(s) of ______________ with lunch. I can have _____ ounce(s) of ______________ in the afternoon. I can have _____ ounce(s) of ______________ with supper. I can have _____ ounce(s) of ______________ in the evening. TOTAL _______ ounces (should equal the allowance written above)",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Potassium is a mineral found in many foods, especially milk, fruits, and vegetables. It affects how steadily your heart beats. Healthy kidneys keep the right amount of potassium in the blood to keep the heart beating at a steady pace. Potassium levels can rise between dialysis sessions and affect your heartbeat. Eating too much potassium can be very dangerous to your heart. It may even cause death. + +To control potassium levels in your blood, avoid foods like avocados, bananas, kiwis, and dried fruit, which are very high in potassium. Also, eat smaller portions of other high-potassium foods. For example, eat half a pear instead of a whole pear. Eat only very small portions of oranges and melons. + +Dicing and Boiling Potatoes to Reduce Potassium You can remove some of the potassium from potatoes by dicing or shredding them and then boiling them in water. Your dietitian will give you more specific information about the potassium content of foods. + + + + + +Talk With a Dietitian Make a food plan that reduces the potassium in your diet. Start by noting the high-potassium foods (below) that you now eat. A dietitian can help you add other foods to the list. High-Potassium Foods apricots avocados bananas beets Brussels sprouts cantaloupe clams dates figs kiwi fruit lima beans melons milk nectarines orange juice oranges peanuts pears (fresh) potatoes prune juice prunes raisins sardines spinach tomatoes winter squash yogurt Others:______________________________________ Changes: Talk with a dietitian about foods you can eat instead of high-potassium foods. Instead of _________, I will eat _________. Instead of _________, I will eat _________. Instead of _________, I will eat _________. Instead of _________, I will eat _________.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Potassium is a mineral found in many foods, especially milk, fruits, and vegetables. It affects how steadily your heart beats. Healthy kidneys keep the right amount of potassium in the blood to keep the heart beating at a steady pace. Potassium levels can rise between dialysis sessions and affect your heartbeat. Eating too much potassium can be very dangerous to your heart. It may even cause death. + +To control potassium levels in your blood, avoid foods like avocados, bananas, kiwis, and dried fruit, which are very high in potassium. Also, eat smaller portions of other high-potassium foods. For example, eat half a pear instead of a whole pear. Eat only very small portions of oranges and melons. + +Dicing and Boiling Potatoes to Reduce Potassium You can remove some of the potassium from potatoes by dicing or shredding them and then boiling them in water. Your dietitian will give you more specific information about the potassium content of foods. + + + + + +Talk With a Dietitian Make a food plan that reduces the potassium in your diet. Start by noting the high-potassium foods (below) that you now eat. A dietitian can help you add other foods to the list. High-Potassium Foods apricots avocados bananas beets Brussels sprouts cantaloupe clams dates figs kiwi fruit lima beans melons milk nectarines orange juice oranges peanuts pears (fresh) potatoes prune juice prunes raisins sardines spinach tomatoes winter squash yogurt Others:______________________________________ Changes: Talk with a dietitian about foods you can eat instead of high-potassium foods. Instead of _________, I will eat _________. Instead of _________, I will eat _________. Instead of _________, I will eat _________. Instead of _________, I will eat _________.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are high in phosphorus. Usually, people on dialysis are limited to 1/2 cup of milk per day. The renal dietitian will give you more specific information regarding phosphorus. + +You probably will need to take a phosphate binder like Renagel, PhosLo, Tums, or calcium carbonate to control the phosphorus in your blood between dialysis sessions. These medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Because it is bound, the phosphorus does not get into the blood. Instead, it is passed out of the body in the stool.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are high in phosphorus. Usually, people on dialysis are limited to 1/2 cup of milk per day. The renal dietitian will give you more specific information regarding phosphorus. + +You probably will need to take a phosphate binder like Renagel, PhosLo, Tums, or calcium carbonate to control the phosphorus in your blood between dialysis sessions. These medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Because it is bound, the phosphorus does not get into the blood. Instead, it is passed out of the body in the stool.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly. + +Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). + + + +Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly. + +Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). + + + +Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. + +Try to eat fresh foods that are naturally low in sodium Look for products labeled low sodium. + +Do not use salt substitutes because they contain potassium. Talk with a dietitian about spices you can use to flavor your food. The dietitian can help you find spice blends without sodium or potassium. + + + +Talk With a Dietitian Talk with a dietitian about spices and other healthy foods you can use to flavor your diet. List them on the lines below. Spice: _____________________________ Spice: _____________________________ Spice: _____________________________ Food: _____________________________ Food: _____________________________",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure. + +Try to eat fresh foods that are naturally low in sodium Look for products labeled low sodium. + +Do not use salt substitutes because they contain potassium. Talk with a dietitian about spices you can use to flavor your food. The dietitian can help you find spice blends without sodium or potassium. + + + +Talk With a Dietitian Talk with a dietitian about spices and other healthy foods you can use to flavor your diet. List them on the lines below. Spice: _____________________________ Spice: _____________________________ Spice: _____________________________ Food: _____________________________ Food: _____________________________",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. + +Some people on dialysis need to gain weight. You may need to find ways to add calories to your diet. Vegetable oils-like olive oil, canola oil, and safflower oil-are good sources of calories. Use them generously on breads, rice, and noodles. + +Butter and margarines are rich in calories. But these fatty foods can also clog your arteries. Use them less often. Soft margarine that comes in a tub is better than stick margarine. Vegetable oils are the healthiest way to add fat to your diet if you need to gain weight. + +Hard candy, sugar, honey, jam, and jelly provide calories and energy without clogging arteries or adding other things that your body does not need. If you have diabetes, be very careful about eating sweets. A dietitian's guidance is very important for people with diabetes.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?,"Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. + +Some people on dialysis need to gain weight. You may need to find ways to add calories to your diet. Vegetable oils-like olive oil, canola oil, and safflower oil-are good sources of calories. Use them generously on breads, rice, and noodles. + +Butter and margarines are rich in calories. But these fatty foods can also clog your arteries. Use them less often. Soft margarine that comes in a tub is better than stick margarine. Vegetable oils are the healthiest way to add fat to your diet if you need to gain weight. + +Hard candy, sugar, honey, jam, and jelly provide calories and energy without clogging arteries or adding other things that your body does not need. If you have diabetes, be very careful about eating sweets. A dietitian's guidance is very important for people with diabetes.",NIDDK,Kidney Failure: Eat Right to Feel Right on Hemodialysis +What are the treatments for Financial Help for Diabetes Care ?,"Diabetes management and treatment is expensive. According to the American Diabetes Association (ADA), the average cost of health care for a person with diabetes is $13,741 a yearmore than twice the cost of health care for a person without diabetes.1 + +Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. This publication is meant to help people with diabetes and their family members find and access such resources.",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include the following: + +- private health insurance, which includes group and individual health insurance - government health insurance, such as Medicare, Medicaid, the Childrens Health Insurance Program (CHIP), TRICARE, and veterans health care programs + +Starting in 2014, the Affordable Care Act (ACA) prevents insurers from denying coverage or charging higher premiums to people with preexisting conditions, such as diabetes. The ACA also requires most people to have health insurance or pay a fee. Some people may be exempt from this fee. Read more about the ACA at HealthCare.gov or call 18003182596, TTY 18558894325.",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"Insurance companies sell private health insurance plans. Two types of private health insurance are + +- Group health insurance. People may be eligible to purchase group health insurance through their employer or union or through a family members employer or union. Other organizations, such as professional or alumni organizations, may also offer group health insurance. - Individual health insurance. People may purchase individual health insurance for themselves and their families. The website HealthCare.gov provides information about individual insurance plans. The website also provides a search function, called the Health Insurance Marketplace, to find health insurance options by state. Depending on their income and family size, some people may qualify for lower-cost premiums through the Health Insurance Marketplace. People can select or change individual health insurance plans during the open enrollment period each year. HealthCare.gov lists open enrollment period dates. The website also provides information about life events that may allow people to enroll outside the open enrollment period. + +Employers may have a waiting period before an employee and his or her family members can enroll in the company health plan. Under the ACA, the waiting period can be no longer than 90 days. Certain health plans called health maintenance organizations (HMOs) may have an affiliation perioda time that must pass before health insurance coverage becomes effective. An affiliation period can be no longer than 3 months. + +The ACA expanded coverage of preventive services. For example, adults with sustained high blood pressure may have access to diabetes screening at no cost. Adults and children may have access to obesity screening and counseling at no cost. + +Each states insurance regulatory office, sometimes called the state insurance department or commission, provides more information about health insurance laws. This office can also help identify an insurance company that offers individual coverage. The National Association of Insurance Commissioners website, www.naic.org/state_web_map.htm , provides a membership list with contact information and a link to the website for each states insurance regulatory office. + +The ADA also provides information about health insurance options at www.diabetes.org/living-with-diabetes/health-insurance . + +Keeping Group Health Insurance after Leaving a Job + +When leaving a job, a person may be able to continue the group health insurance provided by his or her employer for up to 18 months under a federal law called the Consolidated Omnibus Budget Reconciliation Act, or COBRA. Although people pay more for group health insurance through COBRA than they did as employees, group coverage may be cheaper than individual coverage. People who have a disability before becoming eligible for COBRA or who are determined by the Social Security Administration to be disabled within the first 60 days of COBRA coverage may be able to extend COBRA coverage an additional 11 months, for up to 29 months of coverage. COBRA may also cover young adults who were insured under a parents policy after they have reached the age limit and are trying to obtain their own insurance. + +Read more at www.dol.gov/dol/topic/health-plans/cobra.htm or call the U.S. Department of Labor at 18664USADOL (18664872365). + +If a person doesnt qualify for coverage or if COBRA coverage has expired, other options may be available: + +- Some states require employers to offer conversion policies, in which people stay with their insurance company and buy individual coverage. - Some professional and alumni organizations offer group coverage for members. - Some insurance companies offer short-term stopgap policies designed for people who are between jobs. However, these policies may not meet ACA requirements. For example, they may not cover preexisting conditions. - People can purchase individual health insurance policies. + +Each states insurance regulatory office can provide more information about these and other options. Information about consumer health plans is also available at the U.S. Department of Labors website at www.dol.gov/dol/topic/health-plans/consumerinfhealth.htm.",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"Medicare is a federal health insurance program that pays health care costs for eligible people who are + +- age 65 or older - under age 65 with certain disabilities - of any age with end-stage renal diseasetotal and permanent kidney failure that requires a kidney transplant or blood-filtering treatments called dialysis + +What health plans does Medicare offer? + +Medicare has four parts: + +- Part A (hospital insurance) covers inpatient care, skilled nursing home residence, hospice care, and home health care. Part A has no premium for those who have paid enough Medicare taxes. A premium is an amount a person must pay periodicallymonthly or quarterlyfor Medicare, other health plan, or drug plan coverage. Part A does have a deductible, an amount a person must pay for health care or prescriptions before the health plan will pay. A person must pay a daily amount for hospital stays that last longer than 60 days. - Part B (medical insurance) covers services from health care providers, outpatient care, home health care, durable medical equipment, and some preventative services. Part B has a monthly premium based on a persons income. Rates change each year. After a person pays the deductible each year, Part B pays 80 percent for most covered services as a primary payer. The billing staff of the service providerhospital or cliniccan calculate how much a person will owe. - Part C (Medicare Advantage Plans) are part of Medicare and are sometimes called MA Plans. Medicare must approve Medicare Advantage Plans. Each Medicare Advantage Plan must cover Part A and Part B services and may cover other services, too. Medicare Advantage Plans may have Part D prescription coverage. If not, a person can buy a Part D plan separately. Medicare Advantage Plans are not all the same. A person who is thinking of choosing a Medicare Advantage Plan should ask about the rules of the plan. The rules may specify which health care providers or hospitals a person may use. The plan may require a referral from a primary care provider to see a specialist. The plan may not cover medical expenses incurred during travel. How much a person has to pay out-of-pocket each year will vary by plan. People who have a Medicare Advantage Plan cannot have a Medigap plan to help pay out of-pocket costs. See the section on Medigap. Four types of Medicare Advantage Plans are available: - HMOs - preferred provider organizations (PPOs) - private fee for service plans - special needs plans for certain groups - Part D (prescription drug coverage) has a premium and covers some medications. Private insurance companies offer different Part D plans approved by Medicare. Costs and coverage vary by plan. A person who has few assets and earns less than 150 percent of the federal poverty level may qualify for extra help to pay Part D premiums and medication costs. People can apply for this help by calling the Social Security Administration, visiting www.socialsecurity.gov to apply online, visiting their local Social Security office, or contacting their state medical assistance (Medicaid) office. People can find the current-year guidelines at www.aspe.hhs.gov/poverty or by calling Social Security at 18007721213, TTY 18003250778. People can find information and applications for Part D plans at www.medicare.gov. A person can also apply for Part D with an insurance company that sells one of these plans. + +Other Medicare health plans are for certain groups, such as frail people living in the community and people with multiple chronic illnesses, and include hospital and medical coverage. Some pay for prescribed medications, too. State health insurance programscalled Medicaidpartially finance and administer these services. The plans include the following: + +- Medicare Cost Plans are HMOs, like the ones offered as Medicare Advantage plans, only out-of-network providers are paid as if the policyholder had Original Medicare. Original Medicare is Medicare Part A and Part B. - Program of All-Inclusive Care for the Elderly (PACE) combines medical, social, and long-term care services for frail people who live and get health care in the community. - Medicare Innovation Projects are special projects that test improvements in Medicare coverage, payment, and quality of care. + +Read more about Medicare Cost Plans and Demonstration or Pilot Programs on the state Medicaid website at www.medicaid.gov or call 1800MEDICARE (18006334227). State Medicaid offices can provide more information about PACE. See the section on Medicaid. + +Does Medicare cover diabetes services and supplies? + +Medicare helps pay for the diabetes services, supplies, and equipment listed below and for some preventive services for people who are at risk for diabetes. However, coinsurance or deductibles may apply. A person must have Medicare Part B or Medicare Part D to receive these covered services and supplies. + +Medicare Part B helps pay for + +- diabetes screening tests for people at risk of developing diabetes - diabetes self-management training - diabetes supplies such as glucose monitors, test strips, and lancets - insulin pumps and insulin if used with an insulin pump - counseling to help people who are obese lose weight - flu and pneumonia shots - foot exams and treatment for people with diabetes - eye exams to check for glaucoma and diabetic retinopathy - medical nutrition therapy services for people with diabetes or kidney disease, when referred by a health care provider - therapeutic shoes or inserts, in some cases + +Medicare Part D helps pay for + +- diabetes medications - insulin, excluding insulin used with an insulin pump - diabetes supplies such as needles and syringes for injecting insulin + +People who are in a Medicare Advantage Plan or other Medicare health plan should check their plans membership materials and call for details about how the plan provides the diabetes services, supplies, and medications covered by Medicare. + +Read more at www.medicare.gov/publications/pubs/pdf/11022.pdf (PDF, 1,023 KB) or call 1800MEDICARE (18006334227) to request the free booklet Medicares Coverage of Diabetes Supplies & Services. + +Where can a person find more information about Medicare? + +A person can find more information about Medicare by + +- visiting the Medicare website - calling 1800MEDICARE + +Medicare website. Read more about Medicare at www.medicare.gov, the official U.S. Government website for people with Medicare. The website has a full range of information about Medicare, including free publications such as Medicare & You, which is the official Government handbook about Medicare, and Medicare BasicsA Guide for Families and Friends of People with Medicare. + +Through the Medicare website, people can also + +- find out if they are eligible for Medicare and when they can enroll - learn about their Medicare health plan options - find out what Medicare covers - find a Medicare Prescription Drug Plan - compare Medicare health plan options in their area - find a health care provider who participates in Medicare - get information about the quality of care provided by hospitals, home health agencies, and dialysis facilities + +Calling Medicare. Calling 1800MEDICARE (18006334227) is another way to get help with Medicare questions, order free publications, and more. Help is available 24 hours a day, every day, and is available in English, Spanish, and other languages. TTY users should call 18774862048. + +Access Personal Medicare Information People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services. + + + +What is Medigap? + +A Medigap plan, also known as a Medicare supplement plan, can help pay what Original Medicare does not pay for covered services. Insurance companies sell Medigap coverage. People who have a Medicare Advantage plan cannot also have a Medigap plan. A person can buy a Medigap policy from any insurance company licensed to sell the policy in the persons home state. + +For people who are 65 and older, federal law says that in the first 6 months a person has Part B, companies cannot deny an application or limit payment for anything Original Medicare covers. Some states make insurance companies sell at least one Medigap coverage plan to those under 65 with Medicare. State insurance offices can explain the plans in their state. Find local offices on a map at www.naic.org/state_web_map.htm .",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services.",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. The Federal Government requires that Medicaid programs cover a specific set of services; however, states can choose to cover more services in addition to the ones required. A person may have Medicaid alone or Medicare and Medicaid. If a person has both types of coverage, Medicare pays first and Medicaid pays second. Medicaid may pay for things Medicare does not. A person can apply for Medicaid at a city or county department of social services office. The state medical assistance (Medicaid) office can help people find out whether they qualify for Medicaid and can provide more information about Medicaid programs. A social worker can also explain a states Medicaid program and help a person apply. + +To contact a state Medicaid office, people can + +- search for Medicaid information for a state at www.medicaid.gov or call 18772672323 - search online or check the government pages of the phone book for the local department of human services or department of social services + +CHIP gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan. CHIP may also provide assistance to parents. CHIP is a federal and state program. Read more at www.insurekidsnow.gov or call 18775437669.",NIDDK,Financial Help for Diabetes Care +What is (are) Financial Help for Diabetes Care ?,"Assistive technology is any device that assists, adapts, or helps to rehabilitate someone with a disability so he or she may function more safely, effectively, and independently at home, at work, and in the community. Assistive technology may include + +- computers with features that make them accessible to people with disabilities - adaptive equipment, such as wheelchairs - bathroom modifications, such as grab bars or shower seats + +The following organizations may be able to provide information, awareness, and training in the use of technology to assist people with disabilities: + +Alliance for Technology Access 1119 Old Humboldt Road Jackson, TN 38305 Phone: 18009143017 or 7315545ATA (7315545282) TTY: 7315545284 Fax: 7315545283 Email: atainfo@ataccess.org Internet: www.ataccess.org + +National Assistive Technology Technical Assistance Partnership 1700 North Moore Street, Suite 1540 Arlington, VA 222091903 Phone: 7035246686 Fax: 7035246630 TTY: 7035246639 Email: resnaTA@resna.org Internet: www.resnaprojects.org/nattap + +United Cerebral Palsy 1825 K Street NW, Suite 600 Washington, D.C. 20006 Phone: 18008725827 or 2027760406 Internet: www.ucp.org/resources/assistive-technology",NIDDK,Financial Help for Diabetes Care +What to do for Financial Help for Diabetes Care ?,"- Diabetes management and treatment is expensive. Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. - Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include private health insurance and government health insurance. - Insurance companies sell private health insurance plans. Two types of private health insurance are group health insurance and individual health insurance. - Medicare is a federal health insurance program that pays health care costs for eligible people who are age 65 or older, under age 65 with certain disabilities, or of any age with end-stage renal disease. - Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. - The Childrens Health Insurance Program (CHIP) gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan. - Many local governments have public health departments that can help people who need medical care. Local resources such as charitable groups may offer financial help for some expenses related to diabetes. - People should talk with their health care providers if they have problems paying for diabetes medications. Less expensive generic medications for diabetes, blood pressure, and cholesterol are available. If a health care provider prescribes medications that a person cannot afford, the person should ask the health care provider about cheaper alternatives. - Health care providers may also be able to assist people who need help paying for their medications and diabetes testing supplies, such as glucose test strips, by providing free samples or referring them to local programs. Drug companies that sell insulin or diabetes medications often have patient assistance programs.",NIDDK,Financial Help for Diabetes Care +What is (are) Gas in the Digestive Tract ?,"Gas is air in the digestive tractthe large, muscular tube that extends from the mouth to the anus, where the movement of muscles, along with the release of hormones and enzymes, allows for the digestion of food. Gas leaves the body when people burp through the mouth or pass gas through the anus. + +Gas is primarily composed of carbon dioxide, oxygen, nitrogen, hydrogen, and sometimes methane. Flatus, gas passed through the anus, may also contain small amounts of gasses that contain sulfur. Flatus that contains more sulfur gasses has more odor. + +Everyone has gas. However, many people think they burp or pass gas too often and that they have too much gas. Having too much gas is rare.",NIDDK,Gas in the Digestive Tract +What causes Gas in the Digestive Tract ?,"Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. + +Everyone swallows a small amount of air when eating and drinking. The amount of air swallowed increases when people + +- eat or drink too fast - smoke - chew gum - suck on hard candy - drink carbonated or fizzy drinks - wear loose-fitting dentures + +Burping allows some gas to leave the stomach. The remaining gas moves into the small intestine, where it is partially absorbed. A small amount travels into the large intestine for release through the anus. + +The stomach and small intestine do not fully digest some carbohydratessugars, starches, and fiber found in many foods. This undigested food passes through the small intestine to the large intestine. Once there, undigested carbohydrates are broken down by bacteria in the large intestine, which release hydrogen and carbon dioxide in the process. Other types of bacteria in the large intestine take in hydrogen gas and create methane gas or hydrogen sulfide, the most common sulfur gas in flatus. + +Studies have detected methane in the breath of 30 to 62 percent of healthy adults.1 A larger percentage of adults may produce methane in the intestines, but the levels may be too low to be detected. Research suggests that people with conditions that cause constipation are more likely to produce detectable amounts of methane.1 More research is needed to find out the reasons for differences in methane production and to explore the relationship between methane and other health problems. + +Some of the gas produced in the intestines is absorbed by the bloodstream and carried to the lungs, where it is released in the breath. + +Normally, few bacteria live in the small intestine. Small intestinal bacterial overgrowth is an increase in the number of bacteria or a change in the type of bacteria in the small intestine. These bacteria can produce excess gas and may also cause diarrhea and weight loss. Small intestinal bacterial overgrowth is usually related to diseases or disorders that damage the digestive system or affect how it works, such as Crohns diseasean inflammatory bowel disease that causes inflammation, or swelling, and irritation of any part of the gastrointestinal (GI) tractor diabetes.",NIDDK,Gas in the Digestive Tract +What causes Gas in the Digestive Tract ?,"Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. Foods that produce gas in one person may not cause gas in someone else, depending on how well individuals digest carbohydrates and the type of bacteria present in the intestines. + +Some foods that may cause gas include + +- beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high-fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, a sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol",NIDDK,Gas in the Digestive Tract +What are the symptoms of Gas in the Digestive Tract ?,"The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. However, not everyone experiences these symptoms. + +Burping. Burping, or belching, once in a while, especially during and after meals, is normal. However, people who burp frequently may be swallowing too much air and releasing it before the air enters the stomach. + +Some people who burp frequently may have an upper GI disorder, such as gastroesophageal reflux diseasea chronic condition in which stomach contents flow back up into the esophagus. People may believe that swallowing air and releasing it will relieve the discomfort, and they may intentionally or unintentionally develop a habit of burping to relieve discomfort. + +Passing gas. Passing gas around 13 to 21 times a day is normal.2 Flatulence is excessive gas in the stomach or intestine that can cause bloating and flatus. Flatulence may be the result of problems digesting certain carbohydrates. + +Bloating. Bloating is a feeling of fullness and swelling in the abdomen, the area between the chest and hips. Problems digesting carbohydrates may cause increased gas and bloating. However, bloating is not always caused by too much gas. Bloating may result from diseases that affect how gas moves through the intestines, such as rapid gastric emptying, or from diseases that cause intestinal obstruction, such as colon cancer. People who have had many operations, internal hernias, or bands of internal scar tissue called adhesions may experience bloating. + +Disorders such as irritable bowel syndrome (IBS) can affect how gas moves through the intestines or increase pain sensitivity in the intestines. IBS is a functional GI disorder, meaning that the symptoms are caused by changes in how the digestive tract works. The most common symptoms of IBS are abdominal pain or discomfort, often reported as cramping, along with diarrhea, constipation, or both. IBS may give a sensation of bloating because of increased sensitivity to normal amounts of gas. + +Eating a lot of fatty food can delay stomach emptying and cause bloating and discomfort, but not necessarily too much gas. + +Abdominal pain and discomfort. People may feel abdominal pain or discomfort when gas does not move through the intestines normally. People with IBS may be more sensitive to gas and feel pain when gas is present in the intestines.",NIDDK,Gas in the Digestive Tract +What causes Gas in the Digestive Tract ?,"People can try to find the cause of gas on their own by keeping a diary of what they eat and drink and how often they burp, pass gas, or have other symptoms. A diary may help identify specific foods that cause gas. + +A health care provider should be consulted if + +- symptoms of gas are bothersome - symptoms change suddenly - new symptoms occur, especially in people older than age 40 - gas is accompanied by other symptoms, such as constipation, diarrhea, or weight loss + +The health care provider will ask about dietary habits and symptoms and may ask a person to keep a food diary. Careful review of diet and the amount of burping or gas passed may help relate specific foods to symptoms and determine the severity of the problem. Recording gas symptoms can help determine whether the problem is too much gas in the intestines or increased sensitivity to normal amounts of gas. + +If milk or milk products are causing gas, the health care provider may perform blood or breath tests to check for lactose intolerance, the inability or insufficient ability to digest lactose. Lactose intolerance is caused by a deficiency of the enzyme lactase, which is needed to digest lactose. The health care provider may suggest avoiding milk products for a short time to see if symptoms improve. + +The health care provider may perform a physical exam and order other types of diagnostic tests, depending on a persons symptoms. These tests can rule out serious health problems that may cause gas or symptoms similar to those of gas.",NIDDK,Gas in the Digestive Tract +What are the treatments for Gas in the Digestive Tract ?,"Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medications that may help. + +Reducing swallowed air. Swallowing less air may help reduce gas, especially for people who burp frequently. A health care provider may suggest eating more slowly, avoiding gum and hard candies, or checking with a dentist to make sure dentures fit correctly. + +Making dietary changes. People may be able to reduce gas by eating less of the foods that cause gas. However, many healthy foods may cause gas, such as fruits and vegetables, whole grains, and milk products. The amount of gas caused by certain foods varies from person to person. Effective dietary changes depend on learning through trial and error which foods cause a person to have gas and how much of the offending foods one can handle. + +While fat does not cause gas, limiting high-fat foods can help reduce bloating and discomfort. Less fat in the diet helps the stomach empty faster, allowing gases to move more quickly into the small intestine. + +Taking over-the-counter medications. Some over-the-counter medications can help reduce gas or the symptoms associated with gas: + +- Alpha-galactosidase (Beano), an over-the-counter digestive aid, contains the sugar-digesting enzyme that the body lacks to digest the sugar in beans and many vegetables. The enzyme comes in liquid and tablet form. Five drops are added per serving or one tablet is swallowed just before eating to break down the gas-producing sugars. Beano has no effect on gas caused by lactose or fiber. - Simethicone (Gas-X, Mylanta Gas) can relieve bloating and abdominal pain or discomfort caused by gas. - Lactase tablets or drops can help people with lactose intolerance digest milk and milk products to reduce gas. Lactase tablets are taken just before eating foods that contain lactose; lactase drops can be added to liquid milk products. Lactose-free and lactose-reduced milk and milk products are available at most grocery stores. + +Taking prescription medications. Health care providers may prescribe medications to help reduce symptoms, especially for people with small intestinal bacterial overgrowth or IBS. More information about IBS is provided in the NIDDK health topic, Irritable Bowel Syndrome fact sheet.",NIDDK,Gas in the Digestive Tract +What to do for Gas in the Digestive Tract ?,"Peoples eating habits and diet affect the amount of gas they have. For example, eating and drinking too fast may increase the amount of air swallowed, and foods that contain carbohydrates may cause some people to have more gas. + +Tracking eating habits and symptoms can help identify the foods that cause more gas. Avoiding or eating less of these foods may help reduce gas symptoms.",NIDDK,Gas in the Digestive Tract +What to do for Gas in the Digestive Tract ?,"- Gas is air in the digestive tract. - Everyone has gas. However, many people think they pass gas too often and that they have too much gas. Having too much gas is rare. - Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. - Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. - Foods that produce gas in one person may not cause gas for someone else. - The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. - Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications.",NIDDK,Gas in the Digestive Tract +What is (are) Causes of Diabetes ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. + +Insulin is made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. + +If beta cells dont produce enough insulin, or the body doesnt respond to the insulin that is present, glucose builds up in the blood instead of being absorbed by cells in the body, leading to prediabetes or diabetes. Prediabetes is a condition in which blood glucose levels or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough to be diagnosed as diabetes. In diabetes, the bodys cells are starved of energy despite high blood glucose levels. + +Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. No one is certain what starts the processes that cause diabetes, but scientists believe genes and environmental factors interact to cause diabetes in most cases. + +The two main types of diabetes are type 1 diabetes and type 2 diabetes. A third type, gestational diabetes, develops only during pregnancy. Other types of diabetes are caused by defects in specific genes, diseases of the pancreas, certain drugs or chemicals, infections, and other conditions. Some people show signs of both type 1 and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. + +Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. + +Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. + +Genetic Susceptibility + +Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. + +Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. + +While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. + +Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. + +Autoimmune Destruction of Beta Cells + +In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. + +Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. + +Environmental Factors + +Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. + +Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. + +Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. + +Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years. + +Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes. + +Genetic Susceptibility + +Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites. + +Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes. + +Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk. + +Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes. + +Obesity and Physical Inactivity + +Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present. + +An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels. + +The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2 + +Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program. + +Insulin Resistance + +Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes. + +Abnormal Glucose Production by the Liver + +In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver. + +The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation + +A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels: + +- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels. + +- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. + +- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids. + +Metabolic Syndrome + +Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including + +- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood + +Cell Signaling and Regulation + +Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy. + +Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance. + +This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments. + +Beta Cell Dysfunction + +Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity. + +Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life. + +Risk Factors for Type 2 Diabetes + +People who develop type 2 diabetes are more likely to have the following characteristics: + +- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD + +The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Insulin Resistance and Beta Cell Dysfunction + +Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs. + +As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. + +Family History + +Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes. + +Future Risk of Type 2 Diabetes + +Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter. + +Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What to do for Causes of Diabetes ?,"- Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions.",NIDDK,Causes of Diabetes +What is (are) Adrenal Insufficiency and Addison's Disease ?,"Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. + +Adrenal insufficiency can be primary or secondary. Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. Addisons disease affects 110 to 144 of every 1 million people in developed countries.1 + +Secondary adrenal insufficiency occurs when the pituitary glanda pea-sized gland at the base of the brainfails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. If ACTH output is too low, cortisol production drops. Eventually, the adrenal glands can shrink due to lack of ACTH stimulation. Secondary adrenal insufficiency is much more common than Addisons disease. + + + +1",NIDDK,Adrenal Insufficiency and Addison's Disease +What are the symptoms of Adrenal Insufficiency and Addison's Disease ?,"Adrenal Insufficiency + +The most common symptoms of adrenal insufficiency are + +- chronic, or long lasting, fatigue - muscle weakness - loss of appetite - weight loss - abdominal pain + +Other symptoms of adrenal insufficiency can include + +- nausea - vomiting - diarrhea - low blood pressure that drops further when a person stands up, causing dizziness or fainting - irritability and depression - craving salty foods - hypoglycemia, or low blood sugar - headache - sweating - irregular or absent menstrual periods - in women, loss of interest in sex + +Hyperpigmentation, or darkening of the skin, can occur in Addisons disease, although not in secondary adrenal insufficiency. This darkening is most visible on scars; skin folds; pressure points such as the elbows, knees, knuckles, and toes; lips; and mucous membranes such as the lining of the cheek. + +The slowly progressing symptoms of adrenal insufficiency are often ignored until a stressful event, such as surgery, a severe injury, an illness, or pregnancy, causes them to worsen. + +Adrenal Crisis + +Sudden, severe worsening of adrenal insufficiency symptoms is called adrenal crisis. If the person has Addisons disease, this worsening can also be called an Addisonian crisis. In most cases, symptoms of adrenal insufficiency become serious enough that people seek medical treatment before an adrenal crisis occurs. However, sometimes symptoms appear for the first time during an adrenal crisis. + +Symptoms of adrenal crisis include + +- sudden, severe pain in the lower back, abdomen, or legs - severe vomiting and diarrhea - dehydration - low blood pressure - loss of consciousness + +If not treated, an adrenal crisis can cause death. + + + +Get Treatment for Adrenal Crisis Right Away People with adrenal insufficiency who have weakness, nausea, or vomiting need immediate emergency treatment to prevent an adrenal crisis and possible death. An injection with a synthetic glucocorticoid hormone called a corticosteroid can save a persons life. People should make sure to have a corticosteroid injection with them at all times, and make sure their friends and family know how and when to give the injection. Read more under How is adrenal insufficiency treated?",NIDDK,Adrenal Insufficiency and Addison's Disease +What are the treatments for Adrenal Insufficiency and Addison's Disease ?,"People with adrenal insufficiency who have weakness, nausea, or vomiting need immediate emergency treatment to prevent an adrenal crisis and possible death. An injection with a synthetic glucocorticoid hormone called a corticosteroid can save a persons life. People should make sure to have a corticosteroid injection with them at all times, and make sure their friends and family know how and when to give the injection. + +Read more under How is adrenal insufficiency treated?",NIDDK,Adrenal Insufficiency and Addison's Disease +What causes Adrenal Insufficiency and Addison's Disease ?,"Autoimmune disorders cause most cases of Addisons disease. Infections and medications may also cause the disease. + +Autoimmune Disorders + +Up to 80 percent of Addisons disease cases are caused by an autoimmune disorder, which is when the bodys immune system attacks the bodys own cells and organs.2 In autoimmune Addisons, which mainly occurs in middle-aged females, the immune system gradually destroys the adrenal cortexthe outer layer of the adrenal glands.2 + +Primary adrenal insufficiency occurs when at least 90 percent of the adrenal cortex has been destroyed.1 As a result, both cortisol and aldosterone are often lacking. Sometimes only the adrenal glands are affected. Sometimes other endocrine glands are affected as well, as in polyendocrine deficiency syndrome. + +Polyendocrine deficiency syndrome is classified into type 1 and type 2. Type 1 is inherited and occurs in children. In addition to adrenal insufficiency, these children may have + +- underactive parathyroid glands, which are four pea-sized glands located on or near the thyroid gland in the neck; they produce a hormone that helps maintain the correct balance of calcium in the body. - slow sexual development. - pernicious anemia, a severe type of anemia; anemia is a condition in which red blood cells are fewer than normal, which means less oxygen is carried to the bodys cells. With most types of anemia, red blood cells are smaller than normal; however, in pernicious anemia, the cells are bigger than normal. - chronic fungal infections. - chronic hepatitis, a liver disease. + +Researchers think type 2, which is sometimes called Schmidts syndrome, is also inherited. Type 2 usually affects young adults and may include + +- an underactive thyroid gland, which produces hormones that regulate metabolism - slow sexual development - diabetes, in which a person has high blood glucose, also called high blood sugar or hyperglycemia - vitiligo, a loss of pigment on areas of the skin + +Infections + +Tuberculosis (TB), an infection that can destroy the adrenal glands, accounts for 10 to 15 percent of Addisons disease cases in developed countries.1 When primary adrenal insufficiency was first identified by Dr. Thomas Addison in 1849, TB was the most common cause of the disease. As TB treatment improved, the incidence of Addisons disease due to TB of the adrenal glands greatly decreased. However, recent reports show an increase in Addisons disease from infections such as TB and cytomegalovirus. Cytomegalovirus is a common virus that does not cause symptoms in healthy people; however, it does affect babies in the womb and people who have a weakened immune systemmostly due to HIV/AIDS.2 Other bacterial infections, such as Neisseria meningitidis, which is a cause of meningitis, and fungal infections can also lead to Addisons disease. + +Other Causes + +Less common causes of Addisons disease are + +- cancer cells in the adrenal glands - amyloidosis, a serious, though rare, group of diseases that occurs when abnormal proteins, called amyloids, build up in the blood and are deposited in tissues and organs - surgical removal of the adrenal glands - bleeding into the adrenal glands - genetic defects including abnormal adrenal gland development, an inability of the adrenal glands to respond to ACTH, or a defect in adrenal hormone production - medication-related causes, such as from anti-fungal medications and the anesthetic etomidate, which may be used when a person undergoes an emergency intubationthe placement of a flexible, plastic tube through the mouth and into the trachea, or windpipe, to assist with breathing + + + +2",NIDDK,Adrenal Insufficiency and Addison's Disease +What causes Adrenal Insufficiency and Addison's Disease ?,"A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources. + +Stoppage of Corticosteroid Medication + +A temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthetic glucocorticoid hormone, called a corticosteroid, for a long time stops taking the medication. Corticosteroids are often prescribed to treat inflammatory illnesses such as rheumatoid arthritis, asthma, and ulcerative colitis. In this case, the prescription doses often cause higher levels than those normally achieved by the glucocorticoid hormones created by the body. When a person takes corticosteroids for prolonged periods, the adrenal glands produce less of their natural hormones. Once the prescription doses of corticosteroid are stopped, the adrenal glands may be slow to restart their production of the bodys glucocorticoids. To give the adrenal glands time to regain function and prevent adrenal insufficiency, prescription corticosteroid doses should be reduced gradually over a period of weeks or even months. Even with gradual reduction, the adrenal glands might not begin to function normally for some time, so a person who has recently stopped taking prescription corticosteroids should be watched carefully for symptoms of secondary adrenal insufficiency. + +Surgical Removal of Pituitary Tumors + +Another cause of secondary adrenal insufficiency is surgical removal of the usually noncancerous, ACTH-producing tumors of the pituitary gland that cause Cushings syndrome. Cushings syndrome is a hormonal disorder caused by prolonged exposure of the bodys tissues to high levels of the hormone cortisol. When the tumors are removed, the source of extra ACTH is suddenly gone and a replacement hormone must be taken until the bodys adrenal glands are able to resume their normal production of cortisol. The adrenal glands might not begin to function normally for some time, so a person who has had an ACTH-producing tumor removed and is going off of his or her prescription corticosteroid replacement hormone should be watched carefully for symptoms of adrenal insufficiency. + +More information is provided in the NIDDK health topic, Cushings Syndrome. + +Changes in the Pituitary Gland + +Less commonly, secondary adrenal insufficiency occurs when the pituitary gland either decreases in size or stops producing ACTH. These events can result from + +- tumors or an infection in the pituitary - loss of blood flow to the pituitary - radiation for the treatment of pituitary or nearby tumors - surgical removal of parts of the hypothalamus - surgical removal of the pituitary",NIDDK,Adrenal Insufficiency and Addison's Disease +How to diagnose Adrenal Insufficiency and Addison's Disease ?,"In its early stages, adrenal insufficiency can be difficult to diagnose. A health care provider may suspect it after reviewing a persons medical history and symptoms. + +A diagnosis of adrenal insufficiency is confirmed through hormonal blood and urine tests. A health care provider uses these tests first to determine whether cortisol levels are too low and then to establish the cause. Imaging studies of the adrenal and pituitary glands can be useful in helping to establish the cause. + +A lab technician performs the following tests in a health care providers office, a commercial facility, or a hospital. + +Hormonal Blood and Urine Tests + +- ACTH stimulation test. The ACTH stimulation test is the most commonly used test for diagnosing adrenal insufficiency. In this test, the patient is given an intravenous (IV) injection of synthetic ACTH, and samples of blood, urine, or both are taken before and after the injection. The cortisol levels in the blood and urine samples are measured in a lab. The normal response after an ACTH injection is a rise in blood and urine cortisol levels. People with Addisons disease or longstanding secondary adrenal insufficiency have little or no increase in cortisol levels. Both low- and high-dose ACTH stimulation tests may be used depending on the suspected cause of adrenal insufficiency. For example, if secondary adrenal insufficiency is mild or has only recently occurred, the adrenal glands may still respond to ACTH because they have not yet shut down their own production of hormone. Some studies have suggested a low dose1 microgram (mcg)may be more effective in detecting secondary adrenal insufficiency because the low dose is still enough to raise cortisol levels in healthy people, yet not in people with mild or recent secondary adrenal insufficiency. However, recent research has shown that a significant proportion of healthy children and adults can fail the low-dose test, which may lead to unnecessary treatment. Therefore, some health care providers favor using a 250 mcg ACTH test for more accurate results. - CRH stimulation test. When the response to the ACTH test is abnormal, a CRH stimulation test can help determine the cause of adrenal insufficiency. In this test, the patient is given an IV injection of synthetic CRH, and blood is taken before and 30, 60, 90, and 120 minutes after the injection. The cortisol levels in the blood samples are measured in a lab. People with Addisons disease respond by producing high levels of ACTH, yet no cortisol. People with secondary adrenal insufficiency do not produce ACTH or have a delayed response. CRH will not stimulate ACTH secretion if the pituitary is damaged, so no ACTH response points to the pituitary as the cause. A delayed ACTH response points to the hypothalamus as the cause. + +Diagnosis during Adrenal Crisis + +Although a reliable diagnosis is not possible during adrenal crisis, measurement of blood ACTH and cortisol during the crisisbefore treatment with corticosteroids is givenis often enough to make a preliminary diagnosis. Low blood sodium, low blood glucose, and high blood potassium are also sometimes present at the time of adrenal crisis. Once the crisis is controlled, an ACTH stimulation test can be performed to help make a specific diagnosis. More complex lab tests are sometimes used if the diagnosis remains unclear.",NIDDK,Adrenal Insufficiency and Addison's Disease +How to diagnose Adrenal Insufficiency and Addison's Disease ?,"After Addisons disease is diagnosed, health care providers may use the following tests to look at the adrenal glands, find out whether the disease is related to TB, or identify antibodies associated with autoimmune Addisons disease. + +- Ultrasound of the abdomen. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; a patient does not need anesthesia. The images can show abnormalities in the adrenal glands, such as enlargement or small size, nodules, or signs of calcium deposits, which may indicate bleeding. - Tuberculin skin test. A tuberculin skin test measures how a patients immune system reacts to the bacteria that cause TB. A small needle is used to put some testing material, called tuberculin, under the skin. A nurse or lab technician performs the test in a health care providers office; a patient does not need anesthesia. In 2 to 3 days, the patient returns to the health care provider, who will check to see if the patient had a reaction to the test. The test can show if adrenal insufficiency could be related to TB. To test whether a person has TB infection, which is when TB bacteria live in the body without making the person sick, a special TB blood test is used. To test whether a person has TB disease, which is when TB bacteria are actively attacking a persons lungs and making the person sick, other tests such as a chest x ray and a sample of sputumphlegm that is coughed up from deep in the lungsmay be needed. - Antibody blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can detect antibodiesproteins made by the immune system to protect the body from foreign substancesassociated with autoimmune Addisons disease. + +After secondary adrenal insufficiency is diagnosed, health care providers may use the following tests to obtain a detailed view of the pituitary gland and assess how it is functioning: + +- Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the patient may be given a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. A CT scan can show size and shape of the pituitary gland to find out if an abnormality is present. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the patient lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines are designed to allow the patient to lie in a more open space. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. MRIs can be used to produce a three-dimensional (3-D) image of the hypothalamus and the pituitary gland to find out if an abnormality is present. - Hormonal blood tests. Hormonal blood tests can assess how the pituitary gland is functioning and its ability to produce other hormones.",NIDDK,Adrenal Insufficiency and Addison's Disease +What are the treatments for Adrenal Insufficiency and Addison's Disease ?,"Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of the patient. + +Cortisol is replaced with a corticosteroid, such as hydrocortisone, prednisone, or dexamethasone, taken orally one to three times each day, depending on which medication is chosen. + +If aldosterone is also deficient, it is replaced with oral doses of a mineralocorticoid hormone, called fludrocortisone acetate (Florinef), taken once or twice daily. People with secondary adrenal insufficiency normally maintain aldosterone production, so they do not require aldosterone replacement therapy. + +During adrenal crisis, low blood pressure, low blood glucose, low blood sodium, and high blood levels of potassium can be life threatening. Standard therapy involves immediate IV injections of corticosteroids and large volumes of IV saline solution with dextrose, a type of sugar. This treatment usually brings rapid improvement. When the patient can take liquids and medications by mouth, the amount of corticosteroids is decreased until a dose that maintains normal hormone levels is reached. If aldosterone is deficient, the person will need to regularly take oral doses of fludrocortisone acetate. + +Researchers have found that using replacement therapy for DHEA in adolescent girls who have secondary adrenal insufficiency and low levels of DHEA can improve pubic hair development and psychological stress. Further studies are needed before routine supplementation recommendations can be made.",NIDDK,Adrenal Insufficiency and Addison's Disease +What are the treatments for Adrenal Insufficiency and Addison's Disease ?,"Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection. + +A person with adrenal insufficiency should carry a corticosteroid injection at all times and make sure that others know how and when to administer the injection, in case the person becomes unconscious. + +The dose of corticosteroid needed may vary with a persons age or size. For example, a child younger than 2 years of age can receive 25 milligrams (mg), a child between 2 and 8 years of age can receive 50 mg, and a child older than 8 years should receive the adult dose of 100 mg.",NIDDK,Adrenal Insufficiency and Addison's Disease +How to prevent Adrenal Insufficiency and Addison's Disease ?,"The following steps can help a person prevent adrenal crisis: + +- Ask a health care provider about possibly having a shortage of adrenal hormones, if always feeling tired, weak, or losing weight. - Learn how to increase the dose of corticosteroid for adrenal insufficiency when ill. Ask a health care provider for written instructions for sick days. First discuss the decision to increase the dose with the health care provider when ill. - When very ill, especially if vomiting and not able to take pills, seek emergency medical care immediately.",NIDDK,Adrenal Insufficiency and Addison's Disease +What to do for Adrenal Insufficiency and Addison's Disease ?,"Some people with Addisons disease who are aldosterone deficient can benefit from following a diet rich in sodium. A health care provider or a dietitian can give specific recommendations on appropriate sodium sources and daily sodium guidelines if necessary. + +Corticosteroid treatment is linked to an increased risk of osteoporosisa condition in which the bones become less dense and more likely to fracture. People who take corticosteroids should protect their bone health by consuming enough dietary calcium and vitamin D. A health care provider or a dietitian can give specific recommendations on appropriate daily calcium intake based upon age and suggest the best types of calcium supplements, if necessary.",NIDDK,Adrenal Insufficiency and Addison's Disease +What to do for Adrenal Insufficiency and Addison's Disease ?,"- Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. - Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. - Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce cortisol. If ACTH output is too low, cortisol production drops. - The most common symptoms of adrenal insufficiency are chronic fatigue, muscle weakness, loss of appetite, weight loss, and abdominal pain. The slowly progressing symptoms are often ignored until a stressful event, such as surgery, a severe injury, an illness, or pregnancy, causes them to worsen. - If not treated, an adrenal crisis can cause death. - A diagnosis of adrenal insufficiency is confirmed through hormonal blood and urine tests. Imaging studies of the adrenal and pituitary glands can be useful in helping to establish the cause. - Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making. - Problems can occur in people with adrenal insufficiency who are undergoing surgery, suffer a severe injury, have an illness, or are pregnant. These conditions place additional stress on the body, and people with adrenal insufficiency may need additional treatment to respond and recover. - People with adrenal insufficiency should always carry identification stating their condition, adrenal insufficiency, in case of an emergency, as well as the supplies necessary to administer an emergency corticosteroid injection.",NIDDK,Adrenal Insufficiency and Addison's Disease +What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?,"NDM is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare condition occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin, leading to an increase in blood glucose. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. In about half of those with NDM, the condition is lifelong and is called permanent neonatal diabetes mellitus (PNDM). In the rest of those with NDM, the condition is transient and disappears during infancy but can reappear later in life; this type of NDM is called transient neonatal diabetes mellitus (TNDM). Specific genes that can cause NDM have been identified. More information about each type of NDM is provided in the appendix. + +Symptoms of NDM include thirst, frequent urination, and dehydration. NDM can be diagnosed by finding elevated levels of glucose in blood or urine. In severe cases, the deficiency of insulin may cause the body to produce an excess of acid, resulting in a potentially life-threatening condition called ketoacidosis. Most fetuses with NDM do not grow well in the womb and newborns are much smaller than those of the same gestational age, a condition called intrauterine growth restriction. After birth, some infants fail to gain weight and grow as rapidly as other infants of the same age and sex. Appropriate therapy improves and may normalize growth and development.",NIDDK,Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young +What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?,"MODY is a monogenic form of diabetes that usually first occurs during adolescence or early adulthood. However, MODY sometimes remains undiagnosed until later in life. A number of different gene mutations have been shown to cause MODY, all of which limit the ability of the pancreas to produce insulin. This process leads to the high blood glucose levels characteristic of diabetes and, in time, may damage body tissues, particularly the eyes, kidneys, nerves, and blood vessels. MODY accounts for about 1 to 5 percent of all cases of diabetes in the United States. Family members of people with MODY are at greatly increased risk for the condition. + +People with MODY may have only mild or no symptoms of diabetes and their hyperglycemia may only be discovered during routine blood tests. MODY may be confused with type 1 or type 2 diabetes. People with MODY are generally not overweight and do not have other risk factors for type 2 diabetes, such as high blood pressure or abnormal blood fat levels. While both type 2 diabetes and MODY can run in families, people with MODY typically have a family history of diabetes in multiple successive generations, meaning that MODY is present in a grandparent, a parent, and a child. Unlike people with type 1 diabetes who always require insulin, people with MODY can often be treated with oral diabetes medications. Treatment varies depending on the genetic mutation that has caused the MODY. More information about each type of MODY is provided in the appendix.",NIDDK,Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young +What is (are) Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?,"Testing for monogenic diabetes involves providing a blood sample from which DNA is isolated. The DNA is analyzed for changes in the genes that cause monogenic diabetes. Abnormal results can determine the gene responsible for diabetes in a particular individual or show whether someone is likely to develop a monogenic form of diabetes in the future. Genetic testing can also be helpful in selecting the most appropriate treatment for individuals with monogenic diabetes. Prenatal testing can diagnose these conditions in unborn children. + +Most forms of monogenic diabetes are caused by dominant mutations, meaning that the condition can be passed on to children when only one parent is affected. In contrast, if the mutation is a recessive mutation, a disease gene must be inherited from both parents for diabetes to occur. For recessive forms of monogenic diabetes, testing can indicate whether parents or siblings without disease are carriers for recessive genetic conditions that could be inherited by their children. + +If you suspect that you or a member of your family may have a monogenic form of diabetes, you should seek help from health care professionals-physicians and genetic counselors-who have specialized knowledge and experience in this area. They can determine whether genetic testing is appropriate, select the genetic tests that should be performed, and provide information about the basic principles of genetics, genetic testing options, and confidentiality issues. They also can review the test results with the patient or parent after testing, make recommendations about how to proceed, and discuss testing options for other family members.",NIDDK,Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young +What to do for Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young ?,- Mutations in single genes can cause rare forms of diabetes. - Genetic testing can identify many forms of monogenic diabetes. - A physician evaluates whether genetic testing is appropriate. - A correct diagnosis aided by genetic testing can lead to optimal treatment. - Recent research results show that people with certain forms of monogenic diabetes can be treated with oral diabetes medications instead of insulin injections.,NIDDK,Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young +What is (are) Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"Too much glucose in the blood for a long time can cause diabetes problems. This high blood glucose, also called blood sugar, can damage many parts of the body, such as the heart, blood vessels, eyes, and kidneys. Heart and blood vessel disease can lead to heart attacks and strokes, the leading causes of death for people with diabetes. You can do a lot to prevent or slow down diabetes problems. + +This booklet is about heart and blood vessel problems caused by diabetes. You will learn the things you can do each day and during each year to stay healthy and prevent diabetes problems.",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +How to prevent Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"You can do a lot to prevent heart disease and stroke. + +- Keep your blood glucose under control. You can see if your blood glucose is under control by having an A1C test at least twice a year. The A1C test tells you your average blood glucose for the past 2 to 3 months. The target for most people with diabetes is below 7. In some people with heart disease or other special circumstances, their doctor may recommend slightly higher levels of A1C. - Keep your blood pressure under control. Have it checked at every doctor visit. The target for most people with diabetes is below 140/80, unless their doctor sets a different target. - Keep your cholesterol under control. Have it checked at least once a year. The targets for most people with diabetes are - LDLbadcholesterol: below 100 - HDLgoodcholesterol: above 40 in men and above 50 in women - triglyceridesanother type of fat in the blood: below 150 - Make sure the foods you eat are ""heart-healthy."" Include foods high in fiber, such as oat bran, oatmeal, whole-grain breads and cereals, fruits, and vegetables. Cut back on foods high in saturated fat or cholesterol, such as meats, butter, dairy products with fat, eggs, shortening, lard, and foods with palm oil or coconut oil. Limit foods with trans fat, such as snack foods and commercial baked goods. - If you smoke, quit. Your doctor can tell you about ways to help you quit smoking. - Ask your doctor whether you should take an aspirin every day. Studies have shown that taking a low dose of aspirin every day can help reduce your risk of heart disease and stroke. - Take your medicines as directed.",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"You may have one or more of the following warning signs: + +- chest pain or discomfort - pain or discomfort in your arms, back, jaw, or neck - indigestion or stomach pain - shortness of breath - sweating - nausea - light-headedness + +Or, you may have no warning signs at all. Warning signs may come and go. If you have any of these warning signs, call 911 right away. Getting prompt treatment can reduce damage to the heart.",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +What causes Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"Narrowed blood vessels leave a smaller opening for blood to flow through. Having narrowed blood vessels is like turning on a garden hose and holding your thumb over the opening. The smaller opening makes the water shoot out with more pressure. In the same way, narrowed blood vessels lead to high blood pressure. Other factors, such as kidney problems and being overweight, also can lead to high blood pressure. + +Many people with diabetes also have high blood pressure. If you have heart, eye, or kidney problems from diabetes, high blood pressure can make them worse. + +You will see your blood pressure written with two numbers separated by a slash. For example, your reading might be 120/70, said as ""120 over 70."" For most people with diabetes, the target is to keep the first number below 140 and the second number below 80, unless their doctor sets a different target. + +If you have high blood pressure, ask your doctor how to lower it. Your doctor may ask you to take blood pressure medicine every day. Some types of blood pressure medicine can also help keep your kidneys healthy. + +You may also be able to control your blood pressure by + +- eating more fruits and vegetables - eating less salt and high-sodium foods - losing weight if you need to - being physically active - not smoking - limiting alcoholic drinks",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause + +- sudden weakness or numbness of your face, arm, or leg on one side of your body - sudden confusion, trouble talking, or trouble understanding - sudden dizziness, loss of balance, or trouble walking - sudden trouble seeing in one or both eyes or sudden double vision - sudden severe headache + +Sometimes, one or more of these warning signs may happen and then disappear. You might be having a ""mini-stroke,"" also called a TIA or a transient ischemic attack. If you have any of these warning signs, call 911 right away. Getting care for a TIA may reduce or prevent a stroke. Getting prompt treatment for a stroke can reduce the damage to the brain and improve chances for recovery.",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +How to prevent Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"- Don't smoke. - Keep blood glucose and blood pressure under control. - Keep blood fats close to normal. - Be physically active. - Ask your doctor if you should take aspirin every day. + +You also may need surgery to treat PAD.",NIDDK,Prevent diabetes problems: Keep your heart and blood vessels healthy +What is (are) Celiac Disease ?,"Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the inner lining of their small intestine and prevents it from absorbing nutrients. The small intestine is the tubeshaped organ between the stomach and large intestine. Gluten is a protein found in wheat, rye, and barley and occasionally in some products such as vitamin and nutrient supplements, lip balms, and certain medications. + +The immune system is the body's natural defense system and normally protects the body from infection. However, when a person has celiac disease, gluten causes the immune system to react in a way that can cause intestinal inflammationirritation or swellingand long-lasting damage. + +When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villithe tiny, fingerlike projections on the inner lining of the small intestine. Villi normally absorb nutrients from food and pass the nutrients through the walls of the small intestine and into the bloodstream. Without healthy villi, people can become malnourished, no matter how much food they eat.",NIDDK,Celiac Disease +What causes Celiac Disease ?,"Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.1 + +A person's chances of developing celiac disease increase when his or her genestraits passed from parent to childhave variants, or changes. In celiac disease, certain gene variants and other factors, such as a person's exposure to things in his or her environment, can lead to celiac disease. Read more about genes and genetic conditions at www.ghr.nlm.nih.gov. + +For most people, eating something with gluten is harmless. For others, an exposure to gluten can cause, or trigger, celiac disease to become active. Sometimes surgery, pregnancy, childbirth, a viral infection, or severe emotional stress can also trigger celiac disease symptoms.",NIDDK,Celiac Disease +How many people are affected by Celiac Disease ?,"As many as one in 141 Americans has celiac disease, although most remain undiagnosed.2 Celiac disease affects children and adults in all parts of the world and is more common in Caucasians and females. + +Celiac disease is also more common among people with certain genetic diseases, including Down syndrome and Turner syndromea condition that affects girls' development.",NIDDK,Celiac Disease +What are the symptoms of Celiac Disease ?,"A person may experience digestive signs and symptoms, or symptoms in other parts of the body. Digestive signs and symptoms are more common in children and can include + +- abdominal bloating - chronic diarrhea - constipation - gas - pale, foul-smelling, or fatty stool - stomach pain - nausea - vomiting + +Being unable to absorb nutrients during the years when nutrition is critical to a child's normal growth and development can lead to other health problems, such as + +- failure to thrive in infants - slowed growth and short stature - weight loss - irritability or change in mood - delayed puberty - dental enamel defects of permanent teeth + +Adults are less likely to have digestive signs and symptoms and may instead have one or more of the following: + +- anemia - bone or joint pain - canker sores inside the mouth - depression or anxiety - dermatitis herpetiformis, an itchy, blistering skin rash - fatigue, or feeling tired - infertility or recurrent miscarriage - missed menstrual periods - seizures - tingling numbness in the hands and feet - weak and brittle bones, or osteoporosis - headaches + +Intestinal inflammation can cause other symptoms, such as + +- feeling tired for long periods of time - abdominal pain and bloating - ulcers - blockages in the intestine + +Celiac disease can produce an autoimmune reaction, or a self-directed immune reaction, in which a person's immune system attacks healthy cells in the body. This reaction can spread outside of the gastrointestinal tract to affect other areas of the body, including the + +- spleen - skin - nervous system - bones - joints + +Recognizing celiac disease can be difficult because some of its symptoms are similar to those of other diseases and conditions. Celiac disease can be confused with + +- irritable bowel syndrome (IBS) - iron-deficiency anemia caused by menstrual blood loss - lactose intolerance - inflammatory bowel disease - diverticulitis - intestinal infections - chronic fatigue syndrome + +As a result, celiac disease has long been underdiagnosed or misdiagnosed. As health care providers become more aware of the many varied symptoms of the disease and reliable blood tests become more available, diagnosis rates are increasing, particularly for adults. + + + +Dermatitis Herpetiformis Dermatitis herpetiformis is a chronic, itchy, blistering skin rashusually on the elbows, knees, buttocks, back, or scalpthat affects about 5 to 10 percent of people with celiac disease.3 Men with dermatitis herpetiformis may also have oral or genital lesions. People with dermatitis herpetiformis may have no other signs or symptoms of celiac disease. Skin deposits of antibodiesproteins that react against the body's own cells or tissuescommon in celiac disease cause dermatitis herpetiformis. Ingesting gluten triggers these antibodies. More information is provided in the NIDDK health topic, Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease.",NIDDK,Celiac Disease +What are the symptoms of Celiac Disease ?,"Signs and symptoms of celiac disease vary from person to person because of numerous factors, including + +- the length of time a person was breastfed as an infant; some studies have shown that the longer an infant was breastfed, the later the symptoms of celiac disease appear - the age a person started eating gluten - the amount of gluten a person eats - agesymptoms can vary between young children and adults - the degree of damage to the small intestine + +Some people with celiac disease have no signs or symptoms; however, they can still develop complications of the disease over time. Long-term complications include + +- malnutrition - liver diseases - intestinal cancer - lymphoma",NIDDK,Celiac Disease +How to diagnose Celiac Disease ?,"A health care provider diagnoses celiac disease with + +- a medical and family history - a physical exam - blood tests - an intestinal biopsy - a skin biopsy + +Medical and Family History + +Taking a medical and family history may help a health care provider diagnose celiac disease. He or she will ask the patient or caregiver to provide a medical and family history, specifically if anyone in the patient's family has a history of celiac disease. + +Physical Exam + +A physical exam may help diagnose celiac disease. During a physical exam, a health care provider usually + +- examines the patient's body for malnutrition or a rash - uses a stethoscope to listen to sounds within the abdomen - taps on the patient's abdomen checking for bloating and pain + +Blood Tests + +A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A blood test can show the presence of antibodies that are common in celiac disease. + +If blood test results are negative and a health care provider still suspects celiac disease, he or she may order additional blood tests, which can affect test results. + +Before the blood tests, patients should continue to eat a diet that includes foods with gluten, such as breads and pastas. If a patient stops eating foods with gluten before being tested, the results may be negative for celiac disease even if the disease is present. + +Intestinal Biopsy + +If blood tests suggest that a patient has celiac disease, a health care provider will perform a biopsy of the patient's small intestine to confirm the diagnosis. A biopsy is a procedure that involves taking a piece of tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. He or she will give the patient light sedation and a local anesthetic. Some patients may receive general anesthesia. + +During the biopsy, a health care provider removes tiny pieces of tissue from the patient's small intestine using an endoscopea small, flexible camera with a light. The health care provider carefully feeds the endoscope down the patient's esophagus and into the stomach and small intestine. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. The health care provider then takes the samples using tiny tools that he or she passes through the endoscope. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the tissue in a lab. The test can show damage to the villi in the small intestine. + +Skin Biopsy + +When a health care provider suspects that a patient has dermatitis herpetiformis, he or she will perform a skin biopsy. A skin biopsy is a procedure that involves removing tiny pieces of skin tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The patient receives a local anesthetic; however, in some cases, the patient will require general anesthesia. + +A pathologist examines the skin tissue in a lab and checks the tissue for antibodies that are common in celiac disease. If the skin tissue tests positive for the antibodies, a health care provider will perform blood tests to confirm celiac disease. If the skin biopsy and blood tests both suggest celiac disease, the patient may not need an intestinal biopsy for diagnosis. + + + +Genetic Tests In some cases, a health care provider will order genetic blood tests to confirm or rule out a diagnosis of celiac disease. Most people with celiac disease have gene pairs that contain at least one of the human leukocyte antigen (HLA) gene variants.4 However, these variants are also common in people without celiac disease, so their presence alone cannot diagnose celiac disease. If a biopsy and other blood tests do not give a clear diagnosis of celiac disease, a health care provider may test a patient for HLA gene variants. If the gene variants are not present, celiac disease is unlikely.",NIDDK,Celiac Disease +How to diagnose Celiac Disease ?,"In some cases, a health care provider will order genetic blood tests to confirm or rule out a diagnosis of celiac disease. Most people with celiac disease have gene pairs that contain at least one of the human leukocyte antigen (HLA) gene variants.4 However, these variants are also common in people without celiac disease, so their presence alone cannot diagnose celiac disease. + +If a biopsy and other blood tests do not give a clear diagnosis of celiac disease, a health care provider may test a patient for HLA gene variants. If the gene variants are not present, celiac disease is unlikely.",NIDDK,Celiac Disease +What are the treatments for Celiac Disease ?,"Most people with celiac disease have a significant improvement in symptoms when they follow a gluten-free diet. Health care providers typically refer people to a dietitian who specializes in treating people with the disease. The dietitian will teach the person to avoid gluten while following a healthy and nutritious diet. The dietitian will give the person instructions for how to + +- read food and product labels and identify ingredients that contain gluten - make healthy choices about the types of foods to eat - design everyday meal plans + +For most people, following a gluten-free diet will stop symptoms, heal existing intestinal damage, and prevent further damage. Symptoms may improve within days to weeks of starting the diet. The small intestine usually heals in 3 to 6 months in children. Complete healing can take several years in adults. Once the intestine heals, the villi will absorb nutrients from food into the bloodstream normally. + +Some people with celiac disease show no improvement after starting a gluten-free diet. The most common reason for poor response to dietary changes is that people are still consuming small amounts of gluten, which can damage the small intestineeven in people without symptoms. Most people start responding to the gluten-free diet once they find and eliminate hidden sources of gluten from their diet. Hidden sources of gluten include additives made with wheat, such as + +- modified food starch - preservatives - stabilizers + + + +Did you know that medications and nonfood products may contain gluten? Medications, supplements, and other products may also contain lecithin, a hidden source of gluten. People with celiac disease should ask a pharmacist about the ingredients in - prescription and over-the-counter medications - vitamins and mineral supplements - herbal and nutritional supplements Other products can be ingested or transferred from a person's hands to his or her mouth. Reading product labels can help people avoid gluten exposure. If a product's label does not list its ingredients, the manufacturer should provide a list upon request. Products that can contain gluten include - lipstick, lip gloss, and lip balm - cosmetics - skin and hair products - toothpaste and mouthwash - glue on stamps and envelopes - children's modeling dough, such as Play-Doh + +Some people who continue to have symptoms even after changing their diet may have other conditions or disorders that are more common in people with celiac disease. These conditions may include + +- small intestinal bacterial overgrowth, which happens when too many bacteria grow in the small intestine - pancreatic exocrine insufficiency, in which the pancreas does not produce enough digestive juice - microscopic colitis, an inflammation of the colon that a health care provider can see only with a microscope - IBS - lactose intolerance, a condition in which people have symptoms after consuming milk or milk products - other food intolerances, which may occur because of continued damage to the intestine + +In some cases, people continue to have difficulty absorbing nutrients despite following a strict gluten-free diet. People with this condition, known as refractory celiac disease, have severely damaged intestines that cannot heal. Their intestines are not absorbing enough nutrients, so they may need to receive nutrients intravenously. Researchers continue to evaluate medications to treat refractory celiac disease. + +Depending on a person's age at diagnosis, some complications of celiac disease will not improve, such as short stature and dental enamel defects. + +For people with dermatitis herpetiformis, skin symptoms generally respond to a gluten-free diet and may recur if a person adds gluten back into his or her diet. Medications such as dapsone can control the rash's symptoms. Dapsone does not treat intestinal symptoms or damage, so people with dermatitis herpetiformis should maintain a gluten-free diet, even if they don't have digestive symptoms. Even when a person follows a gluten-free diet, the skin lesions from dermatitis herpetiformis may take months or even years to fully heal and often recur over the years.",NIDDK,Celiac Disease +What to do for Celiac Disease ?,"Eating, diet, and nutrition play a significant role in treating celiac disease. People with the disease should maintain a gluten-free diet by avoiding products that contain gluten. In other words, a person with celiac disease should not eat most grains, pasta, and cereal, and many processed foods. + +People with celiac disease can eat a wellbalanced diet with a variety of foods. They can use potato, rice, soy, amaranth, quinoa, buckwheat, or bean flour instead of wheat flour. They can buy gluten-free bread, pasta, and other products from stores, or order products from special food companies. Meanwhile, ""plain""meaning no additives or seasoningsmeat, fish, rice, fruits, and vegetables do not contain gluten, so people with celiac disease can eat these foods. + +In the past, health care providers and dietitians advised people with celiac disease to avoid eating oats. Evidence suggests that most people with the disease can safely eat small amounts of oats, as long as the oats are not contaminated with wheat gluten during processing. People with celiac disease should talk with their health care team when deciding whether to include oats in their diet. + +Eating out and shopping can be a challenge. Newly diagnosed people and their families may find support groups helpful as they adjust to a new approach to eating. People with celiac disease should + +- read food labelsespecially canned, frozen, and processed foodsfor ingredients that contain gluten - avoid ingredients such as hydrolyzed vegetable protein, also called lecithin or soy lecithin - ask restaurant servers and chefs about ingredients and food preparation inquire whether a gluten-free menu is available - ask a dinner or party host about glutenfree options before attending a social gathering + +Foods that are packaged as gluten-free tend to cost more than the same foods containing gluten. People following a gluten-free diet may find that naturally gluten-free foods are less expensive. With practice, looking for gluten can become second nature. + +The Gluten-free Diet: Some Examples + +The Academy of Nutrition and Dietetics has published recommendations for a glutenfree diet. The following chart illustrates these recommendations. This list is not complete, so people with celiac disease should discuss gluten-free food choices with a dietitian or health care professional who specializes in celiac disease. People with celiac disease should always read food ingredient lists carefully to make sure the food does not contain gluten. + +Table 1. Gluten-free foods and foods that contain gluten + +Foods and Ingredients That Contain Gluten barley rye triticale (a cross between wheat and rye) wheat, including - including einkorn, emmer, spelt, kamut - wheat starch, wheat bran, wheat germ, cracked wheat, hydrolyzed wheat protein brewer's yeast dextrin malt (unless a gluten-free source is named, such as corn malt) modified food starch oats (not labeled gluten-free) starch Other Wheat Products That Contain Gluten bromated flour durum flour enriched flour farina graham flour phosphated flour plain flour self-rising flour semolina white flour Processed Foods That May Contain Wheat, Barley, or Rye* bouillon cubes brown rice syrup candy chewing gum chips/potato chips cold cuts, hot dogs, salami, sausage communion wafers french fries gravies imitation fish matzo and matzo meal rice mixes sauces seasoned tortilla chips self-basting turkey soups soy sauce vegetables in sauce *Most of these foods can be found gluten-free. When in doubt, check with the food manufacturer. Food Products and Ingredients Made from Barley* ale beer malt malt beverages malted milk malt extract malt syrup malt vinegar other fermented beverages porter stout *People should only consume these foods if they are labeled gluten-freesuch as sorghum-based beeror they list a grain source other than barley, wheat, or ryesuch as corn malt. Foods That Do Not Contain Gluten amaranth arrowroot buckwheat cassava corn flax legumes lentils millet nuts oats (labeled gluten-free) potatoes quinoa rice sago seeds sorghum soy tapioca tef (or teff) wild rice yucca + + + +Food Labeling Requirements On August 2, 2013, the U.S. Food and Drug Administration (FDA) published a new regulation defining the term ""glutenfree"" for voluntary food labeling. This new federal definition standardizes the meaning of ""gluten-free"" foods regulated by the FDA. Foods regulated by the U.S. Department of Agriculture, including meat and egg products, are not subject to this regulation. The regulation requires that any food with the term ""gluten-free"" on the label must meet all of the requirements of the definition, including that the food should contain fewer than 20 parts per million of gluten. The FDA rule also requires foods with the claims ""no gluten,"" ""free of gluten,"" and ""without gluten"" to meet the definition for ""gluten-free."" If a food that is labeled ""gluten-free"" includes ""wheat"" on the ingredients list or ""contains wheat"" after the list, the following statement must be included on the label: ""The wheat has been processed to allow this food to meet the Food and Drug Administration requirements for gluten-free food."" If this statement is included, people with celiac disease may consume foods labeled ""gluten-free.""",NIDDK,Celiac Disease +What to do for Celiac Disease ?,"- Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients. - When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villithe tiny, fingerlike projections on the inner lining of the small intestine. - A person may experience digestive signs and symptoms, or symptoms in other parts of the body. - Recognizing celiac disease can be difficult because some of its symptoms are similar to those of other diseases and conditions. - Dermatitis herpetiformis is a chronic, itchy, blistering skin rashusually on the elbows, knees, buttocks, back, or scalpthat affects about 5 to 10 percent of people with celiac disease. - Signs and symptoms of celiac disease vary from person to person because of numerous factors. - Some people with celiac disease have no signs or symptoms; however, they can still develop complications of the disease over time. Long-term complications include malnutrition, liver diseases, intestinal cancer, and lymphoma. - A health care provider diagnoses celiac disease with a medical and family history, a physical exam, blood tests, an intestinal biopsy, and a skin biopsy. - Since celiac disease sometimes runs in families, blood relatives of people with celiac disease should talk with their health care provider about their chances of getting the disease. - Most people with celiac disease have a significant improvement in symptoms when they follow a gluten-free diet. - Health care providers typically refer people to a dietitian who specializes in treating people with the disease. - The dietitian will give the person instructions for how to read food and product labels and identify ingredients that contain gluten. - Medications, supplements, and other products may also contain a hidden source of gluten. - People with celiac disease can eat a wellbalanced diet with a variety of foods.",NIDDK,Celiac Disease +How to diagnose Treatment Methods for Kidney Failure: Hemodialysis ?,"About once a month, your dialysis care team will test your blood by using one of two formulasURR or Kt/Vto see whether your treatments are removing enough wastes. Both tests look at one specific waste product, called blood urea nitrogen (BUN), as an indicator for the overall level of waste products in your system. For more information about these measurements, see the NIDDK fact sheet Hemodialysis Dose and Adequacy.",NIDDK,Treatment Methods for Kidney Failure: Hemodialysis +What are the treatments for Treatment Methods for Kidney Failure: Hemodialysis ?,"Your kidneys do much more than remove wastes and extra fluid. They also make hormones and balance chemicals in your system. When your kidneys stop working, you may have problems with anemia and conditions that affect your bones, nerves, and skin. Some of the more common conditions caused by kidney failure are extreme tiredness, bone problems, joint problems, itching, and ""restless legs."" Restless legs will keep you awake as you feel them twitching and jumping. + +Anemia and Erythropoietin (EPO) + +Anemia is a condition in which the volume of red blood cells is low. Red blood cells carry oxygen to cells throughout the body. Without oxygen, cells can't use the energy from food, so someone with anemia may tire easily and look pale. Anemia can also contribute to heart problems. + +Anemia is common in people with kidney disease because the kidneys produce the hormone erythropoietin, or EPO, which stimulates the bone marrow to produce red blood cells. Diseased kidneys often don't make enough EPO, and so the bone marrow makes fewer red blood cells. EPO is available commercially and is commonly given to patients on dialysis. + +For more information about the causes of and treatments for anemia in kidney failure, see the NIDDK fact sheet Anemia in Chronic Kidney Disease. + +Renal Osteodystrophy + +The term ""renal"" describes things related to the kidneys. Renal osteodystrophy, or bone disease of kidney failure, affects 90 percent of dialysis patients. It causes bones to become thin and weak or formed incorrectly and affects both children and adults. Symptoms can be seen in growing children with kidney disease even before they start dialysis. Older patients and women who have gone through menopause are at greater risk for this disease. + +For more information about the causes of this bone disease and its treatment in dialysis patients, see the NIDDK fact sheet Chronic Kidney Disease-Mineral and Bone Disorder. + +Itching (Pruritus) + +Many people treated with hemodialysis complain of itchy skin, which is often worse during or just after treatment. Itching is common even in people who don't have kidney disease; in kidney failure, however, itching can be made worse by wastes in the bloodstream that current dialyzer membranes can't remove from the blood. + +The problem can also be related to high levels of parathyroid hormone (PTH). Some people have found dramatic relief after having their parathyroid glands removed. The four parathyroid glands sit on the outer surface of the thyroid gland, which is located on the windpipe in the base of your neck, just above the collarbone. The parathyroid glands help control the levels of calcium and phosphorus in the blood. + +But a cure for itching that works for everyone has not been found. Phosphate binders seem to help some people; these medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Others find relief after exposure to ultraviolet light. Still others improve with EPO shots. A few antihistamines (Benadryl, Atarax, Vistaril) have been found to help; also, capsaicin cream applied to the skin may relieve itching by deadening nerve impulses. In any case, taking care of dry skin is important. Applying creams with lanolin or camphor may help. + +Sleep Disorders + +Patients on dialysis often have insomnia, and some people have a specific problem called the sleep apnea syndrome, which is often signaled by snoring and breaks in snoring. Episodes of apnea are actually breaks in breathing during sleep. Over time, these sleep disturbances can lead to ""day-night reversal"" (insomnia at night, sleepiness during the day), headache, depression, and decreased alertness. The apnea may be related to the effects of advanced kidney failure on the control of breathing. Treatments that work with people who have sleep apnea, whether they have kidney failure or not, include losing weight, changing sleeping position, and wearing a mask that gently pumps air continuously into the nose (nasal continuous positive airway pressure, or CPAP). + +Many people on dialysis have trouble sleeping at night because of aching, uncomfortable, jittery, or ""restless"" legs. You may feel a strong impulse to kick or thrash your legs. Kicking may occur during sleep and disturb a bed partner throughout the night. The causes of restless legs may include nerve damage or chemical imbalances. + +Moderate exercise during the day may help, but exercising a few hours before bedtime can make it worse. People with restless leg syndrome should reduce or avoid caffeine, alcohol, and tobacco; some people also find relief with massages or warm baths. A class of drugs called benzodiazepines, often used to treat insomnia or anxiety, may help as well. These prescription drugs include Klonopin, Librium, Valium, and Halcion. A newer and sometimes more effective therapy is levodopa (Sinemet), a drug used to treat Parkinson's disease. + +Sleep disorders may seem unimportant, but they can impair your quality of life. Don't hesitate to raise these problems with your nurse, doctor, or social worker. + +Amyloidosis + +Dialysis-related amyloidosis (DRA) is common in people who have been on dialysis for more than 5 years. DRA develops when proteins in the blood deposit on joints and tendons, causing pain, stiffness, and fluid in the joints, as is the case with arthritis. Working kidneys filter out these proteins, but dialysis filters are not as effective. For more information, see the NIDDK fact sheet Amyloidosis and Kidney Disease.",NIDDK,Treatment Methods for Kidney Failure: Hemodialysis +What is (are) Hashimoto's Disease ?,"Hashimotos disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. + +In Hashimotos disease, the immune system attacks the thyroid gland, causing inflammation and interfering with its ability to produce thyroid hormones. Large numbers of white blood cells called lymphocytes accumulate in the thyroid. Lymphocytes make the antibodies that start the autoimmune process. + +Hashimotos disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid doesnt make enough thyroid hormone for the bodys needs. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. Hashimotos disease is the most common cause of hypothyroidism in the United States.1 + +More information is provided in the NIDDK health topic, Hypothyroidism.",NIDDK,Hashimoto's Disease +What is (are) Hashimoto's Disease ?,"The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. + +The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. + +The thyroid makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. + +Thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain, regulates thyroid hormone production. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary decreases TSH production.",NIDDK,Hashimoto's Disease +What are the symptoms of Hashimoto's Disease ?,"Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. After many years, or even decades, damage to the thyroid causes it to shrink and the goiter to disappear. + +Not everyone with Hashimotos disease develops hypothyroidism. For those who do, the hypothyroidism may be subclinicalmild and without symptoms, especially early in its course. With progression to hypothyroidism, people may have one or more of the following symptoms: + +- fatigue - weight gain - cold intolerance - joint and muscle pain - constipation, or fewer than three bowel movements a week - dry, thinning hair - heavy or irregular menstrual periods and problems becoming pregnant - depression - memory problems - a slowed heart rate",NIDDK,Hashimoto's Disease +How to diagnose Hashimoto's Disease ?,"Diagnosis begins with a physical exam and medical history. A goiter, nodules, or growths may be found during a physical exam, and symptoms may suggest hypothyroidism. Health care providers will then perform blood tests to confirm the diagnosis. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Diagnostic blood tests may include the + +- TSH test. The ultrasensitive TSH test is usually the first test performed. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. Generally, a TSH reading above normal means a person has hypothyroidism. - T4 test. The T4 test measures the actual amount of thyroid hormone circulating in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal. - antithyroid antibody test. This test looks for the presence of thyroid autoantibodies, or molecules produced by a persons body that mistakenly attack the bodys own tissues. Two principal types of antithyroid antibodies are - anti-TG antibodies, which attack a protein in the thyroid called thyroglobulin - anti-thyroperoxidase (TPO) antibodies, which attack an enzyme called thyroperoxidase in thyroid cells that helps convert T4 to T3. Having TPO autoantibodies in the blood means the bodys immune system attacked the thyroid tissue in the past. Most people with Hashimotos disease have these antibodies, although people whose hypothyroidism is caused by other conditions do not. + +A health care provider may also order imaging tests, including an ultrasound or a computerized tomography (CT) scan. + +- Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; a patient does not need anesthesia. + +- The images can show the size and texture of the thyroid, as well as a pattern of typical autoimmune inflammation, helping the health care provider confirm Hashimotos disease. The images can also show nodules or growths within the gland that suggest a malignant tumor. + +- CT scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. In some cases of Hashimotos disease, a CT scan is used to examine the placement and extent of a large goiter, and to show a goiters effect on nearby structures. + +More information is provided in the NIDDK health topic, Thyroid Tests.",NIDDK,Hashimoto's Disease +What are the treatments for Hashimoto's Disease ?,"Treatment generally depends on whether the thyroid is damaged enough to cause hypothyroidism. In the absence of hypothyroidism, some health care providers treat Hashimotos disease to reduce the size of the goiter. Others choose not to treat the disease and simply monitor their patients for disease progression. + +Hashimotos disease, with or without hypothyroidism, is treated with synthetic thyroxine, which is man-made T4. Health care providers prefer to use synthetic T4, such as Synthroid, rather than synthetic T3, because T4 stays in the body longer, ensuring a steady supply of thyroid hormone throughout the day. The thyroid preparations made with animal thyroid are not considered as consistent as synthetic thyroid (Levothyroxine) and rarely prescribed today. + +Health care providers routinely test the blood of patients taking synthetic thyroid hormone and adjust the dose as necessary, typically based on the result of the TSH test. Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.",NIDDK,Hashimoto's Disease +What to do for Hashimoto's Disease ?,"Iodine is an essential mineral for the thyroid. However, people with Hashimotos disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hypothyroidism. Read more in Iodine in diet at www.nlm.nih.gov/medlineplus/ency/article/002421.htm. + +Women need more iodine when they are pregnantabout 220 micrograms a daybecause the baby gets iodine from the mothers diet. Women who are breastfeeding need about 290 micrograms a day. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Pregnant women should choose iodized saltsalt supplemented with iodineover plain salt and take prenatal vitamins containing iodine to ensure this need is met. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.",NIDDK,Hashimoto's Disease +What to do for Hashimoto's Disease ?,"- Hashimotos disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. - Hashimotos disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid doesnt make enough thyroid hormone for the bodys needs. - Hashimotos disease is the most common cause of hypothyroidism in the United States. Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. - Not everyone with Hashimotos disease develops hypothyroidism. For those who do, the hypothyroidism may be subclinicalmild and without symptoms, especially early in its course. - Hashimotos disease is much more common in women than men. Although the disease often occurs in adolescent or young women, it more commonly appears between 30 and 50 years of age. - Hashimotos disease, with or without hypothyroidism, is treated with synthetic thyroxine, which is man-made T4. - Women with Hashimotos disease should discuss their condition with their health care provider before becoming pregnant. - Pregnant women should choose iodized saltsalt supplemented with iodineover plain salt and take prenatal vitamins containing iodine. - People should discuss their use of dietary supplements, such as iodine, with their health care provider.",NIDDK,Hashimoto's Disease +What is (are) Kidney Stones in Children ?,"A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass out of the body causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or blood that can be seen in the urine.",NIDDK,Kidney Stones in Children +What is (are) Kidney Stones in Children ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.",NIDDK,Kidney Stones in Children +What causes Kidney Stones in Children ?,"Kidney stones can form when substances in the urinesuch as calcium, magnesium, oxalate, and phosphorousbecome highly concentrated due to one or more causes: + +- Defects in the urinary tract may block the flow of urine and create pools of urine. In stagnant urine, stone-forming substances tend to settle together into stones. Up to one-third of children who have stones have an anatomic abnormality in their urinary tract. - Kidney stones may have a genetic cause. In other words, the tendency to form stones can run in families due to inherited factors. - An unhealthy lifestyle may make children more likely to have kidney stones. For example, drinking too little water or drinking the wrong types of fluids, such as soft drinks or drinks with caffeine, may cause substances in the urine to become too concentrated. Similarly, too much sodium, or salt, in the diet may contribute to more chemicals in the urine, causing an increase in stone formation. Some doctors believe increases in obesity rates, less active lifestyles, and diets higher in salt may be causing more children to have kidney stones. - Sometimes, a urinary tract infection can cause kidney stones to form. Some types of bacteria in the urinary tract break down ureaa waste product removed from the blood by the kidneysinto substances that form stones. - Some children have metabolic disorders that lead to kidney stones. Metabolism is the way the body uses digested food for energy, including the process of breaking down food, using foods nutrients in the body, and removing the wastes that remain. The most common metabolic disorder that causes kidney stones in children is hypercalciuria, which causes extra calcium to collect in the urine. Other more rare metabolic conditions involve problems breaking down oxalate, a substance made in the body and found in some foods. These conditions include hyperoxaluria, too much oxalate in the urine, and oxalosis, characterized by deposits of oxalate and calcium in the bodys tissues. Another rare metabolic condition called cystinuria can cause kidney stones. Cystinuria is an excess of the amino acid cystine in the urine. Amino acids are the building blocks of proteins.",NIDDK,Kidney Stones in Children +What are the symptoms of Kidney Stones in Children ?,"Children with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. Children may experience nausea and vomiting with the pain. However, children who have small stones that pass easily through the urinary tract may not have symptoms at all.",NIDDK,Kidney Stones in Children +What is (are) Kidney Stones in Children ?,"Four major types of kidney stones occur in children: + +- Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation has various causes, which may include high calcium excretion, high oxalate excretion, or acidic urine. Calcium phosphate stones are caused by alkaline urine. - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal proteins such as meats, fish, and shellfishmay cause uric acid. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium. - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infectionfree can prevent more struvite stones. - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine in high concentration, forming crystals that tend to accumulate into stones.",NIDDK,Kidney Stones in Children +How to diagnose Kidney Stones in Children ?,"The process of diagnosing any illness begins with consideration of the symptoms. Pain or bloody urine may be the first symptom. Urine, blood, and imaging tests will help determine whether symptoms are caused by a stone. Urine tests can be used to check for infection and for substances that form stones. Blood tests can be used to check for biochemical problems that can lead to kidney stones. Various imaging techniques can be used to locate the stone: + +- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of any stones. This test does not expose children to radiation, unlike some other imaging tests. Although other tests are more useful in detecting very small stones or stones in the lower portion of the ureter, ultrasound is considered by many health care providers to be the best screening test to look for stones. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create threedimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans may be required to get an accurate stone count when children are being considered for urologic surgery. Because CT scans expose children to a moderate amount of radiation, health care providers try to reduce radiation exposure in children by avoiding repeated CT scans, restricting the area scanned as much as possible, and using the lowest radiation dose that will provide the needed diagnostic information. - X-ray machines use radiation to create images of the childs urinary tract. The images can be taken at an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. The x rays are used to locate many kinds of stones. A conventional x ray is generally less informative than an ultrasound or CT scan, but it is less expensive and can be done more quickly than other imaging procedures.",NIDDK,Kidney Stones in Children +What are the treatments for Kidney Stones in Children ?,"The treatment for a kidney stone usually depends on its size and what it is made of, as well as whether it is causing symptoms of pain or obstructing the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the child becomes dehydrated from vomiting or an inability to drink. A child with a larger stone, or one that blocks urine flow and causes great pain, may need to be hospitalized for more urgent treatment. Hospital treatments may include the following:",NIDDK,Kidney Stones in Children +How to prevent Kidney Stones in Children ?,"To prevent kidney stones, health care providers and their patients must understand what is causing the stones to form. Especially in children with suspected metabolic abnormalities or with recurrent stones, a 24-hour urine collection is obtained to measure daily urine volume and to determine if any underlying mineral abnormality is making a child more likely to form stones. Based on the analysis of the collected urine, the treatment can be individualized to address a metabolic problem. + +In all circumstances, children should drink plenty of fluids to keep the urine diluted and flush away substances that could form kidney stones. Urine should be almost clear.",NIDDK,Kidney Stones in Children +What to do for Kidney Stones in Children ?,"Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life. Some common changes include the following: + +- Children who tend to make calcium oxalate stones or have hypercalciuria should eat a regular amount of dietary calcium and limit salt intake. A thiazide diuretic medication may be given to some children to reduce the amount of calcium leaking into the urine. - Children who have large amounts of oxalate in the urine may need to limit foods high in oxalate, such as chocolate, peanut butter, and dark-colored soft drinks. - Children who form uric acid or cystine stones may need extra potassium citrate or potassium carbonate in the form of a pill or liquid medication. Avoiding foods high in purinessuch as meat, fish, and shellfishmay also help prevent uric acid stones.",NIDDK,Kidney Stones in Children +What to do for Kidney Stones in Children ?,"- A kidney stone is a solid piece of material that forms in a kidney when some substances that are normally found in the urine become highly concentrated. - Kidney stones occur in infants, children, and teenagers from all races and ethnicities. - Kidney stones in children are diagnosed using a combination of urine, blood, and imaging tests. - The treatment for a kidney stone usually depends on its size and composition as well as whether it is causing symptoms of pain or obstructing the urinary tract. - Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. - Children with larger stones, or stones that block urine flow and cause great pain, may need to be hospitalized for more urgent treatment. - Hospital treatments may include shock wave lithotripsy (SWL), removal of the stone with a ureteroscope, lithotripsy with a ureteroscope, or percutaneous nephrolithotomy. - To prevent recurrent kidney stones, health care providers and their patients must understand what is causing the stones to form. - In all circumstances, children should drink plenty of fluids to keep the urine diluted and flush away substances that could form kidney stones. Urine should be almost clear.",NIDDK,Kidney Stones in Children +What is (are) Autoimmune Hepatitis ?,"Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the normal components, or cells, of the liver and causes inflammation and liver damage. The immune system normally protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. + +Autoimmune hepatitis is a serious condition that may worsen over time if not treated. Autoimmune hepatitis can lead to cirrhosis and liver failure. Cirrhosis occurs when scar tissue replaces healthy liver tissue and blocks the normal flow of blood through the liver. Liver failure occurs when the liver stops working properly.",NIDDK,Autoimmune Hepatitis +What is (are) Autoimmune Hepatitis ?,"Autoimmune diseases are disorders in which the body's immune system attacks the body's own cells and organs with proteins called autoantibodies; this process is called autoimmunity. + +The body's immune system normally makes large numbers of proteins called antibodies to help the body fight off infections. In some cases, however, the body makes autoantibodies. Certain environmental triggers can lead to autoimmunity. Environmental triggers are things originating outside the body, such as bacteria, viruses, toxins, and medications.",NIDDK,Autoimmune Hepatitis +What causes Autoimmune Hepatitis ?,"A combination of autoimmunity, environmental triggers, and a genetic predisposition can lead to autoimmune hepatitis.",NIDDK,Autoimmune Hepatitis +What is (are) Autoimmune Hepatitis ?,"Autoimmune hepatitis is classified into several types. Type 1 autoimmune hepatitis is the most common form in North America. Type 1 can occur at any age; however, it most often starts in adolescence or young adulthood. About 70 percent of people with type 1 autoimmune hepatitis are female.1 + +People with type 1 autoimmune hepatitis commonly have other autoimmune disorders, such as + +- celiac disease, an autoimmune disease in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients - Crohn's disease, which causes inflammation and irritation of any part of the digestive tract - Graves' disease, the most common cause of hyperthyroidism in the United States - Hashimoto's disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, a form of chronic inflammation of the thyroid gland - proliferative glomerulonephritis, or inflammation of the glomeruli, which are tiny clusters of looping blood vessels in the kidneys - primary sclerosing cholangitis, which causes irritation, scarring, and narrowing of the bile ducts inside and outside the liver - rheumatoid arthritis, which causes pain, swelling, stiffness, and loss of function in the joints - Sjgren's syndrome, which causes dryness in the mouth and eyes - systemic lupus erythematosus, which causes kidney inflammation called lupus nephritis - type 1 diabetes, a condition characterized by high blood glucose, also called blood sugar, levels caused by a total lack of insulin - ulcerative colitis, a chronic disease that causes inflammation and sores, called ulcers, in the inner lining of the large intestine + +Type 2 autoimmune hepatitis is less common and occurs more often in children than adults.1 People with type 2 can also have any of the above autoimmune disorders.",NIDDK,Autoimmune Hepatitis +What are the symptoms of Autoimmune Hepatitis ?,"The most common symptoms of autoimmune hepatitis are + +- fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes + +Symptoms of autoimmune hepatitis range from mild to severe. Some people may feel as if they have a mild case of the flu. Others may have no symptoms when a health care provider diagnoses the disease; however, they can develop symptoms later.",NIDDK,Autoimmune Hepatitis +How to diagnose Autoimmune Hepatitis ?,"A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. + +A health care provider performs a physical exam and reviews the person's health history, including the use of alcohol and medications that can harm the liver. A person usually needs blood tests for an exact diagnosis because a person with autoimmune hepatitis can have the same symptoms as those of other liver diseases or metabolic disorders. + +Blood tests. A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A person will need blood tests for autoantibodies to help distinguish autoimmune hepatitis from other liver diseases that have similar symptoms, such as viral hepatitis, primary biliary cirrhosis, steatohepatitis, or Wilson disease. + +Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to temporarily stop taking certain medications before the liver biopsy. He or she may also ask the patient to fast for 8 hours before the procedure. + +During the procedure, the patient lies on a table, right hand resting above the head. A health care provider will apply a local anesthetic to the area where he or she will insert the biopsy needle. If needed, he or she will give sedatives and pain medication. Then, he or she will use a needle to take a small piece of liver tissue, and may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. + +A health care provider performs a liver biopsy at a hospital or an outpatient center. The liver sample is sent to a pathology lab where the pathologista doctor who specializes in diagnosing diseaselooks at the tissue with a microscope and sends a report to the patient's health care provider. + +A health care provider can use liver biopsy to diagnose autoimmune hepatitis and determine if cirrhosis is present. People often have cirrhosis at the time they are diagnosed with autoimmune hepatitis. A health care provider can also use liver biopsy to look for changes in the severity of liver damage prior to ending treatment for autoimmune hepatitis.",NIDDK,Autoimmune Hepatitis +What are the treatments for Autoimmune Hepatitis ?,"Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. Treatment may also include a liver transplant. + +Treatment works best when autoimmune hepatitis is diagnosed early. People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. Long-term response to treatment can stop the disease from getting worse and may even reverse some damage to the liver. + +Medications + +People with autoimmune hepatitis who have no symptoms or a mild form of the disease may or may not need to take medication. A health care provider will determine if a person needs treatment. In some people with mild autoimmune hepatitis, the disease may go into remission. Remission is a period when a person is symptom-free and blood tests and liver biopsy show improvement in liver function. + +Corticosteroids. Corticosteroids are medications that decrease swelling and reduce the activity of the immune system. Health care providers treat both types of autoimmune hepatitis with a daily dose of a corticosteroid called prednisone. Treatment may begin with a high dose that is gradually lowered as the disease is controlled. The treatment goal is to find the lowest possible dose that helps control the disease. + +Side effects of prednisone may include + +- weight gain - weakness of the bones, called osteoporosis or osteomalacia - thinning of the hair and skin - acne - diabetes - high blood pressure - cataracts, a clouding in the lens of the eyes - glaucoma, elevated pressure in the eyes - anxiety and confusion + +A health care provider will closely monitor and manage any side effects that may occur, as high doses of prednisone are often prescribed to treat autoimmune hepatitis. + +Immune system suppressors. Medications that suppress the immune system prevent the body from making autoantibodies and block the immune reaction that contributes to inflammation. In most cases, health care providers use azathioprine (Azasan, Imuran) in conjunction with prednisone to treat autoimmune hepatitis. When using azathioprine, a health care provider can use a lower dose of prednisone, which may reduce prednisone's side effects. + +Side effects of azathioprine include + +- low white blood cell count - nausea - vomiting - skin rash - liver damage - pancreatitis, or inflammation of the pancreas + +Azathioprine is an immune system suppressor, so people taking the medication should undergo routine blood tests to monitor their white blood cell counts. A low white blood cell count can lead to bone marrow failure. Bone marrow is the tissue found inside bones that produces new blood cells, including platelets. A health care provider will also check the platelet count when blood tests are done. + +A person may need to discontinue prednisone or azathioprine if they cause severe side effects. The risk of side effects is higher in people who also have cirrhosis. + +A health care provider may gradually reduce the dose of medication in people who show improvement, although the symptoms can return. When a person discontinues treatment, a health care provider will perform routine blood tests and carefully monitor the person's condition for a return of symptoms. Treatment with low doses of prednisone or azathioprine may be necessary on and off for many years. + +People who do not respond to standard immune therapy or who have severe side effects from the medications may benefit from other immunosuppressive agents such as mycophenolate mofetil (CellCept), cyclosporine, or tacrolimus (Hecoria, Prograf). + +Medications that suppress the immune system may lead to various forms of cancer. People on low doses of azathioprine for long periods of time are at slight risk of developing cancer. + +Liver Transplant + +In some people, autoimmune hepatitis progresses to cirrhosis and end-stage liver failure, and a liver transplant may be necessary. Symptoms of cirrhosis and liver failure include the symptoms of autoimmune hepatitis and + +- generalized itching - a longer-than-usual amount of time for bleeding to stop - easy bruising - a swollen stomach or swollen ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin - abdominal bloating due to an enlarged liver - fluid in the abdomenalso called ascites - forgetfulness or confusion + +Liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A team of surgeons performs a liver transplant in a hospital. When possible, the patient fasts for 8 hours before the surgery. The patient stays in the hospital about 1 to 2 weeks to be sure the transplanted liver is functioning properly. The health care provider will monitor the patient for bleeding, infections, and signs of liver rejection. The patient will take prescription medications long term to prevent infections and rejection. Liver transplant surgery for autoimmune hepatitis is successful in most cases. + +More information is provided in the NIDDK health topic, Liver Transplantation.",NIDDK,Autoimmune Hepatitis +What is (are) Autoimmune Hepatitis ?,"People with autoimmune hepatitis and cirrhosis are at risk of developing liver cancer. A health care provider will monitor the person with a regular ultrasound examination of the liver. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; anesthesia is not needed. The images can show the liver's size and the presence of cancerous tumors.",NIDDK,Autoimmune Hepatitis +What to do for Autoimmune Hepatitis ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing autoimmune hepatitis.",NIDDK,Autoimmune Hepatitis +What to do for Autoimmune Hepatitis ?,"- Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the liver and causes inflammation and damage. - Autoimmune hepatitis is a serious condition that may worsen over time if not treated. Autoimmune hepatitis can lead to cirrhosis and liver failure. - Autoimmune hepatitis is more common in females. The disease can occur at any age and affects all ethnic groups. - Autoimmune hepatitis is classified as type 1 or type 2. - A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. - A person usually needs blood tests for an exact diagnosis because a person with autoimmune hepatitis can have the same symptoms as those of other liver diseases or metabolic disorders. - Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. - Treatment works best when autoimmune hepatitis is diagnosed early. - People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. - In some people, autoimmune hepatitis progresses to cirrhosis and end-stage liver failure, and a liver transplant may be necessary.",NIDDK,Autoimmune Hepatitis +What is (are) Whipple Disease ?,"Whipple disease is a rare bacterial infection that primarily affects the small intestine. The infection may spread to any organ in the body; however, it more commonly affects the + +- joints - central nervous system, which includes the brain, the spinal cord, and nerves located throughout the body - heart - eyes - lungs + +Left untreated, Whipple disease gets worse and is usually life threatening.",NIDDK,Whipple Disease +What is (are) Whipple Disease ?,"The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine. + +Most food digestion and nutrient absorption take place in the small intestine. The small intestine measures about 20 feet long and includes the duodenum, jejunum, and ileum. Villitiny, fingerlike protrusionsline the inside of the small intestine. Villi normally let nutrients from food be absorbed through the walls of the small intestine into the bloodstream.",NIDDK,Whipple Disease +What causes Whipple Disease ?,"Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. The villi take on an abnormal, clublike appearance and the damaged intestinal lining does not properly absorb nutrients, causing diarrhea and malnutrition. Diarrhea is frequent, loose, and watery bowel movements. Malnutrition is a condition that develops when the body does not get the right amount of vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function. Over time, the infection spreads to other parts of the persons body and will damage other organs.",NIDDK,Whipple Disease +What are the symptoms of Whipple Disease ?,"Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are + +- diarrhea - weight loss caused by malabsorption + +A person may not have diarrhea. Instead, other signs and symptoms of Whipple disease may appear, such as + +- abnormal yellow and white patches on the lining of the small intestine - joint pain, with or without inflammation, that may appear off and on for years before other symptoms - fatty or bloody stools - abdominal cramps or bloating felt between the chest and groin - enlarged lymph nodesthe small glands that make infection-fighting white blood cells - loss of appetite - fever - fatigue, or feeling tired - weakness - darkening of the skin + +People with a more advanced stage of Whipple disease may have neurologic symptomsthose related to the central nervous systemsuch as + +- vision problems. - memory problems or personality changes. - facial numbness. - headaches. - muscle weakness or twitching. - difficulty walking. - hearing loss or ringing in the ears. - dementiathe name for a group of symptoms caused by disorders that affect the brain. People with dementia may not be able to think well enough to do normal activities such as getting dressed or eating. + +Less common symptoms of Whipple disease may include + +- chronic cough. - chest pain. - pericarditisinflammation of the membrane surrounding the heart. - heart failurea long-lasting condition in which the heart cannot pump enough blood to meet the bodys needs. Heart failure does not mean the heart suddenly stops working.",NIDDK,Whipple Disease +What are the complications of Whipple Disease ?,"People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. As a result of delayed diagnosis or treatment, people may experience the following complications in other areas of the body: + +- long-lasting nutritional deficiencies - heart and heart valve damage - brain damage + +A person with Whipple disease may experience a relapsea return of symptoms. Relapse can happen years after treatment and requires repeat treatments.",NIDDK,Whipple Disease +How to diagnose Whipple Disease ?,"A health care provider may use several tests and exams to diagnose Whipple disease, including the following: + +- medical and family history - physical exam - blood tests - upper GI endoscopy and enteroscopy + +A patient may be referred to a gastroenterologista doctor who specializes in digestive diseases. + +A health care provider may first try to rule out more common conditions with similar symptoms, including + +- inflammatory rheumatic diseasecharacterized by inflammation and loss of function in one or more connecting or supporting structures of the body. - celiac diseasea digestive disease that damages the small intestine and interferes with the absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. - neurologic diseasesdisorders of the central nervous system. - intra-abdominal lymphomaabdominal cancer in part of the immune system called the lymphatic system. - Mycobacterium avium complexan infection that affects people with AIDS. + +Medical and Family History + +Taking a family and medical history can help a health care provider diagnose Whipple disease. + +Physical Exam + +A physical exam may help diagnose Whipple disease. During a physical exam, a health care provider usually + +- examines a patients body - uses a stethoscope to listen to sounds related to the abdomen - taps on specific areas of the patients body checking for pain or tenderness + +Blood Tests + +A technician or nurse draws a blood sample during an office visit or at a commercial facility and sends the sample to a lab for analysis. The health care provider may use blood tests to check for + +- malabsorption. When the damaged villi do not absorb certain nutrients from food, the body has a shortage of protein, calories, and vitamins. Blood tests can show shortages of protein, calories, and vitamins in the body. - abnormal levels of electrolytes. Electrolyteschemicals in body fluids, including sodium, potassium, magnesium, and chlorideregulate a persons nerve and muscle function. A patient who has malabsorption or a lot of diarrhea may lose fluids and electrolytes, causing an imbalance in the body. - anemia. Anemia is a condition in which the body has fewer red blood cells than normal. A patient with Whipple disease does not absorb the proper nutrients to make enough red blood cells in the body, leading to anemia. - T. whipplei DNA. Although not yet approved, rapid polymerase chain reaction diagnostic tests have been developed to detect T. whipplei DNA and may be useful in diagnosis. + +Upper Gastrointestinal Endoscopy and Enteroscopy + +An upper GI endoscopy and enteroscopy are procedures that use an endoscopea small, flexible tube with a lightto see the upper GI tract. A health care provider performs these tests at a hospital or an outpatient center. The health care provider carefully feeds the endoscope down the esophagus and into the stomach and duodenum. + +Once the endoscope is in the duodenum, the health care provider will use smaller tools and a smaller scope to see more of the small intestine. These additional procedures may include + +- push enteroscopy, which uses a long endoscope to examine the upper portion of the small intestine. - double-balloon enteroscopy, which uses balloons to help move the endoscope through the entire small intestine. - capsule enteroscopy, during which the patient swallows a capsule containing a tiny camera. As the capsule passes through the GI tract, the camera will transmit images to a video monitor. Using this procedure, the health care provider can examine the entire digestive tract. + +A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patients throat. A health care provider will place an intravenous (IV) needle in a vein in the arm or hand to administer sedation. Sedatives help patients stay relaxed and comfortable. The test can show changes in the lining of the small intestine that can occur with Whipple disease. + +The health care provider can use tiny tools passed through the endoscope to perform biopsies. A biopsy is a procedure that involves taking a piece of tissue for examination with a microscope. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the tissue from the stomach lining in a lab. The pathologist applies a special stain to the tissue and examines it for T. whipplei-infected cells with a microscope. Once the pathologist completes the examination of the tissue, he or she sends a report to the gastroenterologist for review. More information is provided in the NIDDK health topic, Upper GI Endoscopy.",NIDDK,Whipple Disease +What are the treatments for Whipple Disease ?,"The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. Health care providers choose antibiotics that treat the infection in the small intestine and cross the blood-brain barriera layer of tissue around the brain. Using antibiotics that cross the blood-brain barrier ensures destruction of any bacteria that may have entered the patients brain and central nervous system. + +The health care provider usually prescribes IV antibiotics for the first 2 weeks of treatment. Most patients feel relief from symptoms within the first week or two. A nurse or technician places an IV in the patients arm to give the antibiotics. IV antibiotics used to treat Whipple disease may include + +- ceftriaxone (Rocephin) - meropenem (Merrem I.V.) - penicillin G (Pfizerpen) - streptomycin (Streptomycin) + +After a patient completes the IV antibiotics, the health care provider will prescribe long-term oral antibiotics. Patients receive long-term treatmentat least 1 to 2 yearsto cure the infection anywhere in the body. Oral antibiotics may include + +- trimethoprim/sulfamethoxazole (Septra, Bactrim)a combination antibiotic - doxycycline (Vibramycin) + +Patients should finish the prescribed course of antibiotics to ensure the medication destroyed all T. whipplei bacteria in the body. Patients who feel better may still have the bacteria in the small intestine or other areas of the body for 1 to 2 years. A health care provider will monitor the patient closely, repeat the blood tests, and repeat the upper GI endoscopy with biopsy during and after treatment to determine whether T. whipplei is still present. + +People may relapse during or after treatment. A health care provider will prescribe additional or new antibiotics if a relapse occurs. Some people will relapse years after treatment, so it is important for patients to schedule routine follow-ups with the health care provider. Most patients have good outcomes with an early diagnosis and complete treatment. + +Health care providers treat patients with neurologic symptoms at diagnosis or during relapse more aggressively. Treatment may include + +- a combination of antibiotics - hydroxychloroquine (Plaquenil)an antimalarial medication - weekly injections of interferon gammaa substance made by the body that activates the immune system - corticosteroidsmedications that decrease inflammation",NIDDK,Whipple Disease +How to prevent Whipple Disease ?,Experts have not yet found a way to prevent Whipple disease.,NIDDK,Whipple Disease +What to do for Whipple Disease ?,"A person with Whipple disease and malabsorption may need + +- a diet high in calories and protein - vitamins - nutritional supplements",NIDDK,Whipple Disease +What to do for Whipple Disease ?,"- Whipple disease is a rare bacterial infection that primarily affects the small intestine. Left untreated, Whipple disease gets worse and is usually life threatening. - Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. - Anyone can get Whipple disease. However, it is more common in Caucasian men between 40 and 60 years old. - Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are - diarrhea - weight loss caused by malabsorption - People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. - The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. - The health care provider usually prescribes intravenous (IV) antibiotics for the first 2 weeks of treatment. Most patients feel relief from symptoms within the first week or two. - After a patient completes the IV antibiotics, the health care provider will prescribe long-term oral antibiotics. - Most patients have good outcomes with an early diagnosis and complete treatment.",NIDDK,Whipple Disease +What is (are) Prolactinoma ?,"A prolactinoma is a benign noncancerous tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia --- too much prolactin in the blood --- or by pressure of the tumor on surrounding tissues. + +Prolactin stimulates the breast to produce milk during pregnancy. After giving birth, a mothers prolactin levels fall unless she breastfeeds her infant. Each time the baby nurses, prolactin levels rise to maintain milk production.",NIDDK,Prolactinoma +What is (are) Prolactinoma ?,"The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including + +- growth hormone, which regulates growth - adrenocorticotropin (ACTH), which stimulates the adrenal glands to produce cortisol, a hormone important in metabolism and the body's response to stress - thyrotropin, which signals the thyroid gland to produce thyroid hormone, also involved in metabolism and growth - luteinizing hormone and follicle-stimulating hormone, which regulate ovulation and estrogen and progesterone production in women and sperm formation and testosterone production in men + +The pituitary gland sits in the middle of the head in a bony box called the sella turcica. The optic nerves sit directly above the pituitary gland. Enlargement of the gland can cause symptoms such as headaches or visual disturbances. Pituitary tumors may also impair production of one or more pituitary hormones, causing reduced pituitary function, also called hypopituitarism.",NIDDK,Prolactinoma +How many people are affected by Prolactinoma ?,"Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children.",NIDDK,Prolactinoma +What are the symptoms of Prolactinoma ?,"In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. Some women may experience a loss of libido-interest in sex. Intercourse may become painful because of vaginal dryness. + +In men, the most common symptom of prolactinoma is erectile dysfunction. Because men have no reliable indicator such as changes in menstruation to signal a problem, many men delay going to the doctor until they have headaches or eye problems caused by the enlarged pituitary pressing against nearby optic nerves. They may not recognize a gradual loss of sexual function or libido. Only after treatment do some men realize they had a problem with sexual function.",NIDDK,Prolactinoma +What causes Prolactinoma ?,"The cause of pituitary tumors remains largely unknown. Most pituitary tumors are sporadic, meaning they are not genetically passed from parents to their children.",NIDDK,Prolactinoma +What causes Prolactinoma ?,"In some people, high blood levels of prolactin can be traced to causes other than prolactinoma. + +Prescription drugs. Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. These drugs include older antipsychotic medications such as trifluoperazine (Stelazine) and haloperidol (Haldol); the newer antipsychotic drugs risperidone (Risperdal) and molindone (Moban); metoclopramide (Reglan), used to treat gastroesophageal reflux and the nausea caused by certain cancer drugs; and less often, verapamil, alpha-methyldopa (Aldochlor, Aldoril), and reserpine (Serpalan, Serpasil), used to control high blood pressure. Some antidepressants may cause hyperprolactinemia, but further research is needed. + +Other pituitary tumors. Other tumors arising in or near the pituitary may block the flow of dopamine from the brain to the prolactin-secreting cells. Such tumors include those that cause acromegaly, a condition caused by too much growth hormone, and Cushing's syndrome, caused by too much cortisol. Other pituitary tumors that do not result in excess hormone production may also block the flow of dopamine. + +Hypothyroidism. Increased prolactin levels are often seen in people with hypothyroidism, a condition in which the thyroid does not produce enough thyroid hormone. Doctors routinely test people with hyperprolactinemia for hypothyroidism. + +Chest involvement. Nipple stimulation also can cause a modest increase in the amount of prolactin in the blood. Similarly, chest wall injury or shingles involving the chest wall may also cause hyperprolactinemia.",NIDDK,Prolactinoma +How to diagnose Prolactinoma ?,"A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. The doctor may also request magnetic resonance imaging (MRI), which is the most sensitive test for detecting pituitary tumors and determining their size. MRI scans may be repeated periodically to assess tumor progression and the effects of therapy. Computerized tomography (CT) scan also gives an image of the pituitary but is less precise than the MRI. + +The doctor will also look for damage to surrounding tissues and perform tests to assess whether production of other pituitary hormones is normal. Depending on the size of the tumor, the doctor may request an eye exam with measurement of visual fields.",NIDDK,Prolactinoma +What are the treatments for Prolactinoma ?,"The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible. + +Medical Treatment + +Because dopamine is the chemical that normally inhibits prolactin secretion, doctors may treat prolactinoma with the dopamine agonists bromocriptine (Parlodel) or cabergoline (Dostinex). Agonists are drugs that act like a naturally occurring substance. These drugs shrink the tumor and return prolactin levels to normal in approximately 80 percent of patients. Both drugs have been approved by the U.S. Food and Drug Administration for the treatment of hyperprolactinemia. Bromocriptine is the only dopamine agonist approved for the treatment of infertility. This drug has been in use longer than cabergoline and has a well-established safety record. + +Nausea and dizziness are possible side effects of bromocriptine. To avoid these side effects, bromocriptine treatment must be started slowly. A typical starting dose is one-quarter to one-half of a 2.5 milligram (mg) tablet taken at bedtime with a snack. The dose is gradually increased every 3 to 7 days as needed and taken in divided doses with meals or at bedtime with a snack. Most people are successfully treated with 7.5 mg a day or less, although some people need 15 mg or more each day. Because bromocriptine is short acting, it should be taken either twice or three times daily. + +Bromocriptine treatment should not be stopped without consulting a qualified endocrinologist-a doctor specializing in disorders of the hormone-producing glands. Prolactin levels rise again in most people when the drug is discontinued. In some, however, prolactin levels remain normal, so the doctor may suggest reducing or discontinuing treatment every 2 years on a trial basis. + +Cabergoline is a newer drug that may be more effective than bromocriptine in normalizing prolactin levels and shrinking tumor size. Cabergoline also has less frequent and less severe side effects. Cabergoline is more expensive than bromocriptine and, being newer on the market, its long-term safety record is less well defined. As with bromocriptine therapy, nausea and dizziness are possible side effects but may be avoided if treatment is started slowly. The usual starting dose is .25 mg twice a week. The dose may be increased every 4 weeks as needed, up to 1 mg two times a week. Cabergoline should not be stopped without consulting a qualified endocrinologist. + +Recent studies suggest prolactin levels are more likely to remain normal after discontinuing long-term cabergoline therapy than after discontinuing bromocriptine. More research is needed to confirm these findings. + +In people taking cabergoline or bromocriptine to treat Parkinson's disease at doses more than 10 times higher than those used for prolactinomas, heart valve damage has been reported. Rare cases of valve damage have been reported in people taking low doses of cabergoline to treat hyperprolactinemia. Before starting these medications, the doctor will order an echocardiogram. An echocardiogram is a sonogram of the heart that checks the heart valves and heart function. + +Because limited information exists about the risks of long-term, low-dose cabergoline use, doctors generally prescribe the lowest effective dose and periodically reassess the need for continuing therapy. People taking cabergoline who develop symptoms of shortness of breath or swelling of the feet should promptly notify their physician because these may be signs of heart valve damage. + +Surgery + +Surgery to remove all or part of the tumor should only be considered if medical therapy cannot be tolerated or if it fails to reduce prolactin levels, restore normal reproduction and pituitary function, and reduce tumor size. If medical therapy is only partially successful, it should be continued, possibly combined with surgery or radiation. + +Most often, the tumor is removed through the nasal cavity. Rarely, if the tumor is large or has spread to nearby brain tissue, the surgeon will access the tumor through an opening in the skull. + +The results of surgery depend a great deal on tumor size and prolactin levels as well as the skill and experience of the neurosurgeon. The higher the prolactin level before surgery, the lower the chance of normalizing serum prolactin. Serum is the portion of the blood used in measuring prolactin levels. In the best medical centers, surgery corrects prolactin levels in about 80 percent of patients with small tumors and a serum prolactin less than 200 nanograms per milliliter (ng/ml). A surgical cure for large tumors is lower, at 30 to 40 percent. Even in patients with large tumors that cannot be completely removed, drug therapy may be able to return serum prolactin to the normal range-20 ng/ml or less-after surgery. Depending on the size of the tumor and how much of it is removed, studies show that 20 to 50 percent will recur, usually within 5 years. + +Because the results of surgery are so dependent on the skill and knowledge of the neurosurgeon, a patient should ask the surgeon about the number of operations he or she has performed to remove pituitary tumors and for success and complication rates in comparison to major medical centers. The best results come from surgeons who have performed hundreds or even thousands of such operations. To find a surgeon, contact The Pituitary Society (see For More Information). + +Radiation + +Rarely, radiation therapy is used if medical therapy and surgery fail to reduce prolactin levels. Depending on the size and location of the tumor, radiation is delivered in low doses over the course of 5 to 6 weeks or in a single high dose. Radiation therapy is effective about 30 percent of the time.",NIDDK,Prolactinoma +Who is at risk for Prolactinoma? ?,"Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor.",NIDDK,Prolactinoma +What is (are) Intestinal Pseudo-obstruction ?,"Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. + +The intestines are part of the gastrointestinal (GI) tract and include the small intestine and the large intestine. The small intestine is the organ where most digestion occurs. The small intestine measures about 20 feet and includes the + +- duodenum, the first part of the small intestine - jejunum, the middle section of the small intestine - ileum, the lower end of the small intestine + +The large intestine absorbs water from stool and changes it from a liquid to a solid form, which passes out of the body during a bowel movement. The large intestine measures about 5 feet and includes the + +- cecum, the first part of the large intestine, which is connected to the ileum - colon, the part of the large intestine extending from the cecum to the rectum - rectum, the lower end of the large intestine leading to the anus",NIDDK,Intestinal Pseudo-obstruction +What causes Intestinal Pseudo-obstruction ?,"Problems with nerves, muscles, or interstitial cells of Cajal cause intestinal pseudo-obstruction. Interstitial cells of Cajal are called pacemaker cells because they set the pace of intestinal contractions. These cells convey messages from nerves to muscles. + +Problems with nerves, muscles, or interstitial cells of Cajal prevent normal contractions of the intestines and cause problems with the movement of food, fluid, and air through the intestines. + +Primary or idiopathic intestinal pseudo-obstruction is intestinal pseudo-obstruction that occurs by itself. In some people with primary intestinal pseudo-obstruction, mutations, or changes, in genestraits passed from parent to childcause the condition. However, health care providers do not typically order genetic testing for an intestinal pseudo-obstruction, as they dont commonly recognize gene mutations as a cause. + +Some people have duplications or deletions of genetic material in the FLNA gene. Researchers believe that these genetic changes may impair the function of a protein, causing problems with the nerve cells in the intestines.1 As a result, the nerves cannot work with the intestinal muscles to produce normal contractions that move food, fluid, and air through the digestive tract. Also, these genetic changes may account for some of the other signs and symptoms that can occur with intestinal pseudo-obstruction, such as bladder symptoms and muscle weakness. + +A condition called mitochondrial neurogastrointestinal encephalopathy may also cause primary intestinal pseudo-obstruction. In people with this condition, mitochondriastructures in cells that produce energydo not function normally. Mitochondrial neurogastrointestinal encephalopathy can also cause other symptoms, such as problems with nerves in the limbs and changes in the brain. + +Secondary intestinal pseudo-obstruction develops as a complication of another medical condition. Causes of secondary intestinal pseudo-obstruction include + +- abdominal or pelvic surgery - diseases that affect muscles and nerves, such as lupus erythematosus, scleroderma, and Parkinsons disease - infections - medications, such as opiates and antidepressants, that affect muscles and nerves - radiation to the abdomen - certain cancers, including lung cancer",NIDDK,Intestinal Pseudo-obstruction +What are the symptoms of Intestinal Pseudo-obstruction ?,"Intestinal pseudo-obstruction symptoms may include + +- abdominal swelling or bloating, also called distension - abdominal pain - nausea - vomiting - constipation - diarrhea + +Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. Malnutrition is a condition that develops when the body does not get the right amount of the vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function. + +Some people develop problems with their esophagus, stomach, or bladder.",NIDDK,Intestinal Pseudo-obstruction +How to diagnose Intestinal Pseudo-obstruction ?,"To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. The health care provider also will look for the cause of the condition, such as an underlying illness. + +Intestinal pseudo-obstruction can be difficult to diagnose, especially primary intestinal pseudo-obstruction. As a result, a correct diagnosis may take a long time. + +Physical Exam + +A physical exam is one of the first things a health care provider may do to help diagnose intestinal pseudo-obstruction. During a physical exam, a health care provider usually + +- examines a persons body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the persons body + +Medical History + +The health care provider will ask a person to provide a medical and family history to help diagnose intestinal pseudo-obstruction. + +Imaging Studies + +A health care provider may order the following imaging studies: + +- Abdominal x ray. An x ray is a picture recorded on film or a computer that a technician takes using low-level radiation. The amount of radiation used is small. An x-ray technician takes the x ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. A person does not need anesthesia. The person will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The person will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the person to change position for additional pictures. An x ray of the abdominal area will show whether symptoms are due to an intestinal blockage. - Upper GI series. A health care provider may order an upper GI series to look at the small intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images; the health care provider may give infants and children anesthesia. A person should not eat or drink for 8 hours before the procedure, if possible. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Infants lie on a table and the technician will give them barium through a tiny tube placed in the nose that runs into the stomach. Barium coats the lining of the small intestine, making signs of obstruction show up more clearly on x rays. A person may experience bloating and nausea for a short time after the test. Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. A health care provider will give the person specific instructions about eating and drinking after the test. - Lower GI series. A health care provider may order a lower GI series, an x-ray exam to look at the large intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. A person does not need anesthesia. The health care provider may provide written bowel prep instructions to follow at home before the test. The health care provider may ask the person to follow a clear liquid diet for 1 to 3 days before the procedure. A person may need to use a laxative or an enema before the test. A laxative is medication that loosens stool and increases bowel movements. An enema involves flushing water or laxative into the anus using a special squirt bottle. For the test, the person will lie on a table while the health care provider inserts a flexible tube into the persons anus. The health care provider will fill the large intestine with barium, making signs of underlying problems show up more clearly on x rays. The test can show problems with the large intestine that are causing the persons symptoms. Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. Enemas and repeated bowel movements may cause anal soreness. A health care provider will provide specific instructions about eating and drinking after the test. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. For a CT scan, a health care provider may give the person a solution to drink and an injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. CT scans can show both the internal and external intestinal wall. The health care provider may give children a sedative to help them fall asleep for the test. - Upper GI endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum. A gastroenterologist performs the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a person a liquid anesthetic to gargle or may spray anesthetic on the back of the persons throat. A health care provider will place an intravenous (IV) needle in a vein in the arm to administer sedation. Sedatives help patients stay relaxed and comfortable. This test can show blockages or other conditions in the upper small intestine. A gastroenterologist may obtain a biopsy of the lining of the small intestine during an upper GI endoscopy. + +Biopsy + +A gastroenterologist can obtain a biopsy of the intestinal wall during endoscopy or during surgery, if the person has surgery for intestinal pseudo-obstruction and the cause is unknown. If the health care provider needs to examine the nerves in the intestinal wall, a deeper biopsy, which a gastroenterologist can typically obtain only during surgery, is necessary. + +A biopsy is a procedure that involves taking a piece of the intestinal wall tissue for examination with a microscope. A health care provider performs the biopsy in a hospital and uses light sedation and local anesthetic; the health care provider uses general anesthesia if performing the biopsy during surgery. A pathologista doctor who specializes in diagnosing diseasesexamines the intestinal tissue in a lab. Diagnosing problems in the nerve pathways of the intestinal tissue requires special techniques that are not widely available. + +A health care provider can also use a biopsy obtained during endoscopy to rule out celiac disease. Celiac disease is an autoimmune disorder in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley and in products such as vitamin and nutrient supplements, lip balms, and certain medications. + +Blood Tests + +A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of other diseases or conditions that may be causing a persons symptoms. The blood test also can show levels of essential vitamins and minerals to help detect malnutrition. + +Manometry + +Manometry is a test that measures muscle pressure and movements in the GI tract, such as how well the smooth muscles of the stomach and small intestine contract and relax. A gastroenterologist performs the test at a hospital or an outpatient center. While the person is under sedation, a health care provider places a thin tube, or manometry tube, into the stomach and moves it down into the small intestine. A gastroenterologist may use an endoscope to place this tube. A health care provider will move the person to a manometry room and connect the manometry tube to a computer. When the person wakes up from sedation, the computer records the pressure inside the intestine while the person is fasting and after the person has eaten a meal. Manometry can confirm the diagnosis of intestinal pseudo-obstruction and show the extent of the condition. + +Gastric Emptying Tests + +Gastric emptying tests can show if a disorder called gastroparesis is causing a persons symptoms. People with gastroparesis, which literally refers to a paralyzed stomach, have severely delayed gastric emptying, or the delayed movement of food from the stomach to the small intestine. Some patients with intestinal pseudo-obstruction also have gastroparesis. + +Types of gastric emptying tests include the following: + +- Gastric emptying scintigraphy. This test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs the test in a radiology center or hospital, and a radiologist interprets the results; the person does not need anesthesia. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. Normal values depend on the composition of the meal. With some meals, if more than 10 percent of the meal is still in the stomach at 4 hours, a health care provider confirms the diagnosis of gastroparesis. Obtaining scans for 4 hours after the meal is essential. When the technician only obtains scans 1 to 2 hours after the meal, the results are often unreliable. - Breath test. With this test, the person eats a meal containing a small amount of nonradioactive material. Then, the health care provider takes breath samples over a period of several hours to measure the amount of nonradioactive material in the exhaled breath. The results allow the health care provider to calculate how fast the stomach is emptying. - SmartPill. The SmartPill is a small electronic device in capsule form. The SmartPill test is available at specialized outpatient centers. The person swallows the device so that it can move through the entire digestive tract and send information to a cell-phone-sized receiver worn around the persons waist or neck. The recorded information provides details about how quickly food travels through each part of the digestive tract.",NIDDK,Intestinal Pseudo-obstruction +What are the treatments for Intestinal Pseudo-obstruction ?,"A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. + +Nutritional Support + +People with intestinal pseudo-obstruction often need nutritional support to prevent malnutrition and weight loss. Enteral nutrition provides liquid food through a feeding tube inserted through the nose into the stomach or placed directly into the stomach or small intestine. A health care provider inserts the feeding tube, sometimes using x ray or endoscopy for guidance, and teaches the person how to care for the tube after returning home. Enteral nutrition is sufficient for most people with intestinal pseudo-obstruction. In a severe case, a person may need IV feeding, also called parenteral nutrition, which provides liquid food through a tube placed in a vein. + +Enteral nutrition is possible because the intestinal lining is normal in most people with intestinal pseudo-obstruction. Enteral nutrition is preferred over parenteral nutrition because it has a much lower risk of complications. + +Medications + +A health care provider prescribes medications to treat the different symptoms and complications of intestinal pseudo-obstruction, such as + +- antibiotics to treat bacterial infections - pain medication, which should be used sparingly, if at all, because most pain medications delay intestinal transit - medication to make intestinal muscles contract - antinausea medications - antidiarrheal medications - laxatives + +Decompression + +A person with acute colonic pseudo-obstruction and a greatly enlarged colon who does not respond to medications may need a procedure, called decompression, to remove gas from the colon. A gastroenterologist can perform the procedure in a hospital or an outpatient center. The gastroenterologist may choose to decompress the colon by using colonoscopy. During colonoscopy, the gastroenterologist inserts a flexible tube into the colon through the anus. A health care provider gives the person a light sedative, and possibly pain medication, to relax. If the person requires long-term decompression, the gastroenterologist also can decompress the colon through a surgical opening in the cecum. In this case, the health care provider gives the person local anesthesia. + +Surgery + +In severe cases of intestinal pseudo-obstruction, a person may need surgery to remove part of the intestine. However, surgery should be performed rarely, if at all, because intestinal pseudo-obstruction is a generalized disorder that typically affects the entire intestine. Removing part of the intestine cannot cure the disease. + +A surgeona doctor who specializes in surgerywill perform the surgery at a hospital; a person will need general anesthesia. A few highly specialized treatment centers offer small intestine transplantation. A health care provider may recommend small intestine transplantation when all other treatments have failed.",NIDDK,Intestinal Pseudo-obstruction +What to do for Intestinal Pseudo-obstruction ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing intestinal pseudo-obstruction. Following special diets usually does not help improve the disorder. However, eating frequent, small meals with pureed foods or liquids may ease digestion. Vitamin and trace mineral supplements may help a person who is malnourished.",NIDDK,Intestinal Pseudo-obstruction +What to do for Intestinal Pseudo-obstruction ?,"- Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. - Intestinal pseudo-obstruction symptoms may include abdominal swelling or bloating, also called distension; abdominal pain; nausea; vomiting; constipation; and diarrhea. Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. - To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. - A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. A health care provider may recommend small intestine transplantation when all other treatments have failed.",NIDDK,Intestinal Pseudo-obstruction +What is (are) What I need to know about Erectile Dysfunction ?,"Erectile dysfunction* is when you cannot get or keep an erection firm enough to have sex. You may have ED if you + +- can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all + +ED is sometimes called impotence; however, doctors use this term less often now. + + + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Erectile Dysfunction +What causes What I need to know about Erectile Dysfunction ?,"Erectile dysfunction often has more than one cause. Many diseases can damage nerves, arteries, and muscles. Some can lead to ED, such as + +- high blood pressure - diabetes, when your blood glucose, also called blood sugar, is too high - clogged arteries - heart and blood vessel disease - chronic kidney disease - multiple sclerosis, a disease that attacks the nerves - treatments for prostate cancer, including radiation, surgery to remove the prostate, and hormone treatments - injury to the penis, spinal cord, prostate, bladder, or pelvis - surgery for bladder cancer - Peyronies disease, in which scar tissue, called a plaque, forms in the penis + +Unhealthy lifestyle choices, such as smoking, drinking too much alcohol, using illegal drugs, being overweight, and not exercising, can lead to ED. + +Mental health problems such as the following can also cause or worsen ED: + +- depression - fear of sexual failure - guilt - low self-esteem - stress - worry + +Even when ED has a physical cause, mental health problems can make ED worse. For example, a physical problem may slow your sexual arousal, which may make you more nervous and worsen your ED. + +In addition, ED can be a side effect of many common medicines. A small number of ED cases result from low testosterone, a male hormone.",NIDDK,What I need to know about Erectile Dysfunction +Who is at risk for What I need to know about Erectile Dysfunction? ?,"Erectile dysfunction affects men of all races and in all parts of the world. Men are more likely to have ED as they get older. For example, ED occurs in + +- about 12 percent of men younger than 60 - 22 percent of men age 60 to 69 - 30 percent of men age 70 or older",NIDDK,What I need to know about Erectile Dysfunction +What causes What I need to know about Erectile Dysfunction ?,"Having ED can cause you to feel depressed or anxious. ED may also cause low self-esteem. When you have ED, you may not have a satisfying sex life. You may not feel as close with your sexual partner, which may strain your relationship. + + + +See Your Doctor if You Have Erectile Dysfunction, as Erectile Dysfunction Could Mean You Have a More Serious Condition If you have problems getting or keeping an erection, and the problems last for more than a few weeks, you should talk with your doctor. ED can be a sign of other health problems, such as diabetes or heart disease. When you meet with your doctor, you might use phrases like, Ive been having problems in the bedroom or Ive been having erection problems. Remember that a healthy sex life is part of a healthy life. Dont be shy about seeking help. Your doctor treats medical problems every day. If talking with your doctor doesnt put you at ease, ask for a referral to another doctor. Your doctor may send you to a urologista doctor who specializes in sexual and urinary problems.",NIDDK,What I need to know about Erectile Dysfunction +What causes What I need to know about Erectile Dysfunction ?,"To find the cause of your ED, your doctor may + +- take your medical and sexual history - ask you questions about your mental health - give you a physical exam - test your blood - give you a nighttime erection test - perform an injection test - perform a Doppler penile ultrasound + +Medical and Sexual History + +Your doctor will ask general questions about your health, as well as specific questions about your erection problems and your relationship with your sexual partner. Your doctor might ask you questions such as + +- Have you ever had surgery? - What medicines do you take? - How sure are you that you can get and keep an erection? - When you have erections, how often are they hard enough for sex? - During sex, how often are you able to keep your erection? - When you try to have sex, how often are you happy with the sex? - How would you rate your level of sexual desire? - How often are you able to reach climax and ejaculate? - Do you have an erection when you wake up in the morning? - Do you use illegal drugs, drink alcohol, or smoke? + +The answers to these questions will help your doctor understand the problem. + +Bring a list of all the medicines you take, or the actual medicines, to show to your doctor. + +Mental Health Questions + +Your doctor may ask you questions about your mental health. For example, the doctor may ask if you feel nervous or depressed. He or she may also ask you to answer questions on paper. The doctor may also ask your sexual partner questions to get more information about the problem. + +Physical Exam + +A physical exam can help your doctor find the cause of your ED. As part of the exam, the doctor will examine your testes and penis, take your blood pressure, and check for problems with your blood flow. + +Blood Tests + +A blood test involves drawing your blood at a doctors office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show possible causes of ED, such as diabetes, clogged blood vessels, or chronic kidney disease. Low levels of testosterone in your blood can explain why you may have lost interest in sex. + +Nighttime Erection Test + +During a nighttime erection test, you wear a plastic band around your penis to test whether you have nighttime erections. The band easily breaks if your penis expands. This test shows if you had at least one erection during the night. Another test uses an electronic device that can record the number of erections, how long they last, and how firm they are. A man normally has three to five erections during the night while he sleeps. If you do have an erection, it probably means that your ED is more likely a mental health issue. If you do not have these erections, you probably have nerve damage or poor blood flow to your penis. You may do this test in your home or in a special sleep lab. + +Injection Test + +During an injection test, the doctor will inject a medicine into your penis to cause an erection. If the erection is not firm or does not last, it may mean you have a problem with blood flow. This test most often takes place in the doctors office. + +Doppler Penile Ultrasound + +An x-ray technician most often performs a Doppler penile ultrasound in a doctors office or an outpatient center. During a Doppler penile ultrasound, the x-ray technician or doctor lightly passes a device over your penis to create images of blood vessels in your penis. An injection is used to create an erection. The images can show if you have a blood flow problem. The pictures appear on a computer screen. A radiologista doctor who specializes in medical imaginglooks at the images to find possible problems.",NIDDK,What I need to know about Erectile Dysfunction +What are the treatments for What I need to know about Erectile Dysfunction ?,"Your doctor can offer you a number of treatments for ED. For many men, the answer is as simple as taking a pill. Other men have to try two or three options before they find a treatment that works for them. Dont give up if the first treatment doesnt work. Finding the right treatment can take time. You may want to talk with your sexual partner about which treatment fits you best as a couple. + +A doctor can treat ED by + +- treating the cause of your ED: - lifestyle changes - changing the medicines you take to treat other health problems - counseling - prescribing medicines to treat your ED: - medicine by mouth - other forms of medicine - prescribing a vacuum device - performing surgery: - implanted devices - surgery to repair blood vessels + +Treating the Cause of Your Erectile Dysfunction + +The first step is to treat any health problems that may be causing your ED. Untreated diabetes or high blood pressure may be part of the cause of your ED. + +Lifestyle changes. For some men, the following lifestyle changes help: + +- quitting smoking - drinking less alcohol - increasing physical activity - stopping illegal drug use + +Changing medicines you take to treat other health problems. Talk with your doctor about all the medicines you are taking, including over-the-counter medicines. The doctor may find that a medicine you are taking is causing your ED. Your doctor may be able to give you another medicine that works in a different way, or your doctor may tell you to try a lower dose of your medicine. + +Counseling. Counseling can help couples deal with the emotional effects of ED. Some couples find that counseling adds to the medical treatment by making their relationship stronger. + +Prescribing Medicines to Treat Your Erectile Dysfunction + +Depending on which medicine your doctor gives you, you may take it by mouth or by putting it directly into your penis. + +Medicine by mouth. Your doctor may be able to prescribe a pill to treat ED. Common medicines include + +- sildenafil (Viagra) - vardenafil (Levitra, Staxyn) - tadalafil (Cialis) - avanafil (Stendra) + +If your health is generally good, your doctor may prescribe one of these medicines. You should not take any of these pills to treat ED if you take any nitrates, a type of heart medicine. All ED pills work by increasing blood flow to the penis. They do not cause automatic erections. Talk with your doctor about when to take the pill. You may need to experiment to find out how soon the pill takes effect. + +Other forms of medicine. Taking a pill doesnt work for all men. You may need to use medicine that goes directly into your penis. You may use an injection into the shaft of your penis, or you may use medicine placed in your urethra, at the tip of your penis. The urethra is the tube that carries urine and semen outside of the body. Your doctor will teach you how to use the medicines. They most often cause an erection within minutes. These medicines can be successful, even if other treatments fail. + +Prescribing a Vacuum Device + +Another way to create an erection is to use a device with a specially designed vacuum tube. You put your penis into the tube, which is connected to a pump. As air is pumped out of the tube, blood flows into your penis and makes it larger and firmer. You then move a specially designed elastic ring from the end of the tube to the base of your penis to keep the blood from flowing back into your body. You may find that using a vacuum device requires some practice. + +Performing Surgery + +If the other options fail, you may need surgery to treat ED. + +Implanted devices. A urologist can place a device that fills with fluid or a device with bendable rods inside the penis to create an erection. + +One kind of implant uses two cylinders that fill with fluid like a balloon. Tubing connects the cylinders to a small ball that holds the fluid. You fill the cylinders by squeezing a small pump that the urologist places under the skin of the scrotum, in front of your testes. The pump causes fluid to flow into the two cylinders in your penis, making it hard. The fluid can make the penis slightly longer and wider. An implant that uses fluids instead of bendable rods leaves the penis in a more natural state when not in use. + +Implants that bend most often have two rods that the urologist places side by side in your penis during surgery. You use your hands to adjust the position of the rods to make your penis straight. Your penis does not get larger. After sex, you bend the rods down. + +Implanted devices do not affect the way sex feels or the ability to have an orgasm. + +Once you have an implanted device, you must use the device to have an erection every time. Talk with your doctor about the pros and cons of having an implanted device. + +Surgery to repair blood vessels. Doctors treat some cases of ED with surgery to repair the blood vessels that carry blood to the penis. This type of surgery is more likely to work in men younger than 30.",NIDDK,What I need to know about Erectile Dysfunction +How to prevent What I need to know about Erectile Dysfunction ?,"You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED. + +Physical activity increases blood flow throughout your body, including your penis. Talk with your doctor before starting new activities. If you have not been active, start slow, with easier activities such as walking at a normal pace or gardening. Then you can work up to harder activities such as walking briskly or swimming. Try to aim for at least 30 minutes of activity most days of the week.",NIDDK,What I need to know about Erectile Dysfunction +What to do for What I need to know about Erectile Dysfunction ?,"To prevent ED, you should eat a healthy diet of whole-grain foods, fruits and vegetables, low-fat dairy foods, and lean meats. A diet that causes you to be overweight and have heart and blood vessel disease can also lead to ED. You should avoid foods high in fat and sodium, the main part of salt. You should also avoid smoking, drinking too much alcohol, or using illegal drugs.",NIDDK,What I need to know about Erectile Dysfunction +What to do for What I need to know about Erectile Dysfunction ?,"- Erectile dysfunction (ED) is when you cannot get or keep an erection firm enough to have sex. You may have ED if you - can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all - An erection occurs when blood flow into the penis increases, making the penis larger and firmer. Hormones, blood vessels, nerves, and muscles all work together to cause an erection. - ED often has more than one cause. Many diseases can damage nerves, arteries, and muscles. - To find the cause of your ED, your doctor may - take your medical and sexual history - ask you questions about your mental health - give you a physical exam - test your blood - give you a nighttime erection test - perform an injection test - perform a Doppler penile ultrasound - Your doctor can offer you a number of treatments for ED. For many men, the answer is as simple as taking a pill. Other men have to try two or three options before they find a treatment that works for them. - You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED.",NIDDK,What I need to know about Erectile Dysfunction +What is (are) What I need to know about Diverticular Disease ?,"Diverticular* disease affects the colon. The colon is part of the large intestine that removes waste from your body. Diverticular disease is made up of two conditions: diverticulosis and diverticulitis. Diverticulosis occurs when pouches, called diverticula, form in the colon. These pouches bulge out like weak spots in a tire. Diverticulitis occurs if the pouches become inflamed. + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Diverticular Disease +What causes What I need to know about Diverticular Disease ?,"Doctors are not sure what causes diverticular disease. Many think a diet low in fiber is the main cause. Fiber is a part of food that your body cannot digest. It is found in many fruits and vegetables. Fiber stays in the colon and absorbs water, which makes bowel movements easier to pass. Diets low in fiber may cause constipation, which occurs when stools are hard and difficult to pass. Constipation causes your muscles to strain when you pass stool. Straining may cause diverticula to form in the colon. If stool or bacteria get caught in the pouches, diverticulitis can occur.",NIDDK,What I need to know about Diverticular Disease +What are the symptoms of What I need to know about Diverticular Disease ?,"The symptoms for diverticulosis and diverticulitis are different. + +Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. The rectum is the end of the colon that connects to the anus. The rectum and anus are part of the gastrointestinal tract, which is the passage that food goes through. Rectal bleeding is usually painless, but it can be dangerous. You should see a doctor right away. + +Diverticulitis. People with diverticulitis can have many symptoms. Often pain is felt in the lower part of the abdomen. If you have diverticulitis, you may have fevers, feel sick to your stomach, vomit, or have a change in your bowel habits.",NIDDK,What I need to know about Diverticular Disease +Who is at risk for What I need to know about Diverticular Disease? ?,"Many people get diverticular disease. Starting at age 40, the chance of getting it increases about every 10 years. About half of people between the ages of 60 and 80 have diverticular disease. Almost everyone over 80 has it.",NIDDK,What I need to know about Diverticular Disease +What are the treatments for What I need to know about Diverticular Disease ?,"Treatment for diverticular disease depends on how serious the problem is and whether you are suffering from diverticulosis or diverticulitis. Most people get better by changing their diet. If you have rectal bleeding, you need to go to the hospital so a doctor can find the part of your colon that is bleeding. The doctor may use a special drug that makes the bleeding stop. The doctor may also decide to operate and remove the part of the colon that is bleeding.",NIDDK,What I need to know about Diverticular Disease +What are the treatments for What I need to know about Diverticular Disease ?,Eating high-fiber foods can help relieve symptoms. Sometimes mild pain medications also help.,NIDDK,What I need to know about Diverticular Disease +What are the treatments for What I need to know about Diverticular Disease ?,"A doctor may prescribe antibiotics and recommend following a liquid diet. Most people get better with this treatment. Some people may need surgery and other treatments. + +- Surgery. Serious problems from diverticulitis are treated with surgery. Surgeons can clean the abdomen after infections and remove bleeding pouches and fistulas. - Colon resection. If you get diverticulitis many times, your doctor might suggest taking out the part of the colon with diverticula. The healthy sections can be joined together. With the diverticula gone, you may avoid other infections. - Emergency surgery. If you have severe problems, you may need emergency surgery to clear the infection and remove part of the colon. Later, a second surgery rejoins the healthy sections of the colon. The colon is separated for a brief time between surgeries, because rejoining the colon during the first surgery is not always safe. A temporary colostomy is needed between the two surgeries. A colostomy is an opening made on the abdomen where a plastic bag is connected to collect stool after food is digested. The surgeon makes the opening, called a stoma, and connects it to the end of the colon.",NIDDK,What I need to know about Diverticular Disease +What is (are) What I need to know about Diverticular Disease ?,"Eat a high-fiber diet to help prevent problems. Talk to your doctor about using fiber products like Benefiber, Citrucel, or Metamucil. Daily use can help you get the fiber you need if you do not get it through your diet. + +Ask your doctor about which food choices are right for you. + +Eating foods high in fiber is simple and can help reduce diverticular disease symptoms and problems. + +Try eating more of the following: + +- Fruit. Raw apples, peaches, pears, and tangerines. - Vegetables. Fresh broccoli, squash, carrots, and brussels sprouts. - Starchy vegetables. Potatoes, baked beans, kidney beans, and lima beans. - Grains. Whole-wheat bread, brown rice, bran flake cereal, and oatmeal. + +Talk with your doctor about making diet changes. Learn what to eat and how to put more of these high-fiber foods in your diet.",NIDDK,What I need to know about Diverticular Disease +What to do for What I need to know about Diverticular Disease ?,"- Diverticular disease is more common in people as they grow older. - A low-fiber diet is the most likely cause of the disease. - Most people are treated with a high-fiber diet and pain medication. - Add whole grain foods, high-fiber fruits, and vegetables to your diet. - Contact a doctor if you notice symptoms such as fever, chills, nausea, vomiting, abdominal pain, rectal bleeding, or change in bowel habits.",NIDDK,What I need to know about Diverticular Disease +What is (are) Primary Sclerosing Cholangitis ?,"PSC is a disease that damages and blocks bile ducts inside and outside the liver. Bile is a liquid made in the liver. Bile ducts are tubes that carry bile out of the liver to the gallbladder and small intestine. In the intestine, bile helps break down fat in food. + +In PSC, inflammation of the bile ducts leads to scar formation and narrowing of the ducts over time. As scarring increases, the ducts become blocked. As a result, bile builds up in the liver and damages liver cells. Eventually, scar tissue can spread throughout the liver, causing cirrhosis and liver failure.",NIDDK,Primary Sclerosing Cholangitis +What causes Primary Sclerosing Cholangitis ?,"The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. + +PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. The link between PSC and IBD is not yet understood.",NIDDK,Primary Sclerosing Cholangitis +Who is at risk for Primary Sclerosing Cholangitis? ?,Most people with PSC are adults but the disease also occurs in children. The average age at diagnosis is 40. PSC is more common in men than women. Having family members with PSC may increase a person's risk for developing PSC.,NIDDK,Primary Sclerosing Cholangitis +What are the symptoms of Primary Sclerosing Cholangitis ?,"The main symptoms of PSC are itching, fatigue, and yellowing of the skin or whites of the eyes. An infection in the bile ducts can cause chills and fever. PSC progresses slowly, so a person can have the disease for years before symptoms develop.",NIDDK,Primary Sclerosing Cholangitis +What are the complications of Primary Sclerosing Cholangitis ?,"PSC can lead to various complications, including + +- deficiencies of vitamins A, D, E, and K - infections of the bile ducts - cirrhosisextensive scarring of the liver - liver failure - bile duct cancer",NIDDK,Primary Sclerosing Cholangitis +How to diagnose Primary Sclerosing Cholangitis ?,"Blood tests to check levels of liver enzymes are the first step in diagnosing PSC. Doctors confirm the diagnosis using cholangiography, which provides pictures of the bile ducts. + +Cholangiography can be performed in the following ways: + +- Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an endoscopea long, flexible, lighted tubethat goes down the mouth, beyond the stomach, and into the duodenum to reach an area in the digestive tract where dye can be injected into the bile ducts. X rays are taken when the dye is injected. ERCP also can be used to take a tissue sample or to treat blocked ducts. More information about ERCP is provided in the NIDDK health topic, ERCP (Endoscopic Retrograde Cholangiopancreatography). - Percutaneous transhepatic cholangiography. This procedure involves inserting a needle through the skin and placing a thin tube into a duct in the liver. Dye is injected through the tube and x rays are taken. - Magnetic resonance cholangiopancreatography (MRCP). MRCP uses magnetic resonance imaging (MRI) to obtain pictures of the bile ducts. MRI machines use radio waves and magnets to scan internal organs and tissues. MRCP does not involve using x rays or inserting instruments into the body. This safe and painless test is increasingly used for diagnosis. + +Other testing may include ultrasound exams and a liver biopsy. Ultrasound uses sound waves to create images of organs inside the body. A biopsy involves removal of a small piece of tissue for examination with a microscope.",NIDDK,Primary Sclerosing Cholangitis +What are the treatments for Primary Sclerosing Cholangitis ?,"Although researchers have studied many treatments, none has been shown to cure or slow the progress of PSC. Treatment of PSC aims to relieve symptoms and manage complications. Medical treatment may include various medications to relieve itching, antibiotics to treat infections, and vitamin supplements. Instruments passed through an endoscope during ERCP can help open blocked bile ducts. + +Liver transplantation may be an option if the liver begins to fail.",NIDDK,Primary Sclerosing Cholangitis +What to do for Primary Sclerosing Cholangitis ?,"- Primary sclerosing cholangitis (PSC) inflames, scars, and blocks bile ducts inside and outside the liver. - When bile ducts become blocked, bile builds up in the liver and damages liver cells. - PSC can lead to vitamin deficiencies, infections, bile duct cancer, cirrhosis, liver failure, and the need for a liver transplant. - The cause of PSC is not known. - Many people with PSC also have ulcerative colitis, an inflammatory bowel disease. - Treatment includes medications to treat symptoms and complications of PSC.",NIDDK,Primary Sclerosing Cholangitis +What is (are) Prevent diabetes problems: Keep your nervous system healthy ?,"Your nervous system carries signals between your brain and other parts of your body through your spinal cord. Nerves are bundles of special tissues that transmit these signals. + +The signals share information between your brain and body about how things feel. The signals also send information between your brain and body to control automatic body functions, such as breathing and digestion, and to move your body parts. + +The nerves in your spinal cord branch out to all of your organs and body parts. All your nerves together make up your nervous system. + +Your nervous system is composed of the + +- central nervous systemyour brain and spinal cord - cranial* nervesnerves that connect your brain to your head, neck, and face - peripheral nervous systemnerves that connect your spinal cord to your entire body, including your organs and your arms, hands, legs, and feet + +*See the Pronunciation Guide for tips on how to say the the words in bold type.",NIDDK,Prevent diabetes problems: Keep your nervous system healthy +What are the symptoms of Prevent diabetes problems: Keep your nervous system healthy ?,"Nerve damage symptoms depend on which nerves have damage. Some people have no symptoms or mild symptoms. Other people have painful and long-lasting symptoms. As most nerve damage develops over many years, a person may not notice mild cases for a long time. In some people, the onset of pain may be sudden and severe.",NIDDK,Prevent diabetes problems: Keep your nervous system healthy +What is (are) Prevent diabetes problems: Keep your nervous system healthy ?,"Peripheral Neuropathy + +Peripheral neuropathy is the most common type of diabetic neuropathy, and it affects the sensory nerves of your feet, legs, hands, and arms. These areas of your body may feel + +- numb - weak - cold - burning or tingling, like pins and needles + +You may feel extreme pain in these areas of your body, even when they are touched lightly. You also may feel pain in your legs and feet when walking. + +These feelings are often worse at night and can make it hard to sleep. Most of the time, you will have these feelings on both sides of your body, such as in both feet; however, they can occur just on one side. + + + +You might have other problems, such as + +- swollen feet - loss of balance - loss of muscle tone in your hands and feet - a deformity or shape change in your toes and feet - calluses or open sores on your feet + +Autonomic Neuropathy + +Autonomic neuropathy can affect your + +- digestive system - sex organs - bladder - sweat glands - eyes - heart rate and blood pressure - ability to sense low blood glucose + +Digestive system. Damage to nerves in your stomach, intestines, and other parts of your digestive system may + +- make it hard to swallow both solid food and liquids - cause stomach pain, nausea, vomiting, constipation, or diarrhea - make it hard to keep your blood glucose under control + +Your doctor or dietitian may advise you to eat smaller, more frequent meals; avoid fatty foods; and eat less fiber. + +Sex organs. Damage to nerves in the sex organs may + +- prevent a mans penis from getting firm when he wants to have sex, called erectile dysfunction or impotence. Many men who have had diabetes for several years have impotence. - prevent a womans vagina from getting wet when she wants to have sex. A woman might also have less feeling around her vagina. + +Bladder. Damage to nerves in your bladder may make it hard to know when you need to urinate and when your bladder is empty. This damage can cause you to hold urine for too long, which can lead to bladder infections. You also might leak drops of urine. + + + +Sweat glands. Damage to nerves in your sweat glands may prevent them from working properly. Nerve damage can cause you to sweat a lot at night or while eating. + +Eyes. Damage to nerves in your pupils, the parts of your eyes that react to changes in light and darkness, may make them slow to respond to these changes. You may have trouble seeing the lights of other cars when driving at night. Your eyes may take longer to adjust when you enter a dark room. + + + +Heart rate and blood pressure. Damage to nerves that control your heart rate and blood pressure may make these nerves respond more slowly to changes in position, stress, physical activity, sleep, and breathing patterns. You might feel dizzy or pass out when you go from lying down to standing up or when you do physical activity. You also might have shortness of breath or swelling in your feet. + + + +Ability to sense low blood glucose. Autonomic nerves also let you know when your blood glucose is low. Damage to these nerves can prevent you from feeling the symptoms of low blood glucose, also called hypoglycemia. This kind of nerve damage is more likely to happen if you have had diabetes for a long time or if your blood glucose has often been too low. Low blood glucose can make you + +- hungry - dizzy or shaky - confused - pale - sweat more - weak - anxious or cranky - have headaches - have a fast heartbeat + +Severe hypoglycemia can cause you to pass out. If that happens, youll need help bringing your blood glucose level back to normal. Your health care team can teach your family members and friends how to give you an injection of glucagon, a hormone that raises blood glucose levels quickly. If glucagon is not available, someone should call 911 to get you to the nearest emergency room for treatment. + + + +Consider wearing a diabetes medical alert identification bracelet or necklace. If you have hypoglycemia and are not able to communicate, the emergency team will know you have diabetes and get you the proper treatment. You can find these bracelets or necklaces at your pharmacy or on the Internet. You can also ask your doctor for information on available products. + +Other Neuropathies + +Other types of neuropathies from diabetes can cause + +- damage to the joint and bones of your foot, called Charcots foot, in which you cannot sense pain or the position of your foot - carpal tunnel syndrome, in which a nerve in your forearm is compressed at your wrist, causing numbness, swelling, and pain in your fingers - paralysis on one side of your face, called Bells palsy - double vision or not being able to focus your eyes - aching behind one eye",NIDDK,Prevent diabetes problems: Keep your nervous system healthy +What are the treatments for Prevent diabetes problems: Keep your nervous system healthy ?,"The treatment for nerve damage from diabetes is based on your symptoms. No treatment can reverse nerve damage; however, it can help you feel better. Your doctor might suggest taking low doses of medicines that both treat other health problems and help the pain of neuropathy. Some of these medicines include + +- antidepressants - anticonvulsants, or anti-seizure medicines + +Other treatment options include + +- creams or patches on your skin for burning pain - over-the-counter pain medicines - acupuncture, a form of pain treatment that uses needles inserted into your body at certain pressure points - physical therapy, which helps with muscle weakness and loss of balance - relaxation exercises, such as yoga - special shoes to fit softly around sore feet or feet that have changed shape + +Your doctor also can prescribe medicines to help with problems caused by nerve damage in other areas of your body, such as poor digestion, dizziness, sexual problems, and lack of bladder control. + +Stopping smoking and drinking alcoholic beverages also may help with symptoms.",NIDDK,Prevent diabetes problems: Keep your nervous system healthy +What to do for Prevent diabetes problems: Keep your nervous system healthy ?,"You can keep your nervous system healthy by taking these steps: + +- Eat healthy meals and follow the meal plan that you and your doctor or dietitian have worked out. - If you drink alcoholic beverages, limit your intake to no more than one drink per day for women and two drinks per day for men. Drinking too many alcoholic beverages can make nerve damage worse. + +More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes.",NIDDK,Prevent diabetes problems: Keep your nervous system healthy +What is (are) Prevent diabetes problems: Keep your kidneys healthy ?,"Your kidneys are two bean-shaped organs, each about the size of a fist. They are located just below your rib cage, one on each side of your spine. Every day, your two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. Urine flows from your kidneys to your bladder through tubes called ureters. Your bladder stores urine until releasing it through urination.",NIDDK,Prevent diabetes problems: Keep your kidneys healthy +What is (are) Prevent diabetes problems: Keep your kidneys healthy ?,"Blood pressure is the force of blood flow inside your blood vessels. Blood pressure is written with two numbers separated by a slash. For example, a blood pressure result of 130/80 is said as 130 over 80. The first number is the pressure in your blood vessels as your heart beats and pushes blood through your blood vessels. The second number is the pressure as your blood vessels relax between heartbeats. + +High blood pressure forces your heart to work harder to pump blood. High blood pressure can strain your heart, damage your blood vessels, and increase your risk of heart attack, stroke, eye problems, and kidney problems.",NIDDK,Prevent diabetes problems: Keep your kidneys healthy +What are the symptoms of Prevent diabetes problems: Keep your kidneys healthy ?,"In the early stages, diabetic kidney disease does not have any symptoms. Kidney disease happens so slowly that you may not feel sick at all for many years. You may not feel sick even when your kidneys do only half the job of healthy kidneys. Only your doctor can tell if you have kidney disease by checking the protein, or albumin, level in your urine at least once a year. + +The first symptom of diabetic kidney disease is often swelling in parts of your body, such as your hands, face, feet, or ankles. Also, large amounts of protein in your urine may cause urine to look foamy. Once your kidney function starts to decrease, other symptoms may include + +- increased or decreased urination - feeling drowsy or tired - feeling itchy or numb - dry skin - headaches - weight loss - not feeling hungry - feeling sick to your stomach - vomiting - sleep problems - trouble staying focused - darkened skin - muscle cramps",NIDDK,Prevent diabetes problems: Keep your kidneys healthy +What to do for Prevent diabetes problems: Keep your kidneys healthy ?,"Your dietitian or doctor may suggest a special eating plan for you. You may have to avoid a diet high in protein, fat, sodium, and potassium. + +- Cut back on protein, especially animal products such as meat. Damaged kidneys may fail to remove protein waste products from your blood. Diets high in protein make your kidneys work harder and fail sooner. - Avoid a high-fat diet. High-fat diets are high in cholesterol. Cholesterol is a type of fat found in your bodys cells, blood, and many foods. Your body needs some cholesterol to work the right way. For example, your body uses cholesterol to make certain essential hormones and maintain nerve function. However, your body makes all the cholesterol it needs. If you often eat foods that are high in cholesterol, or if high cholesterol runs in your family, extra cholesterol in your blood can build up over time in the walls of your blood vessels and arteries. High blood cholesterol can lead to heart disease and stroke, some of the biggest health problems for people with diabetes. - Avoid high-sodium foods. Sodium is a mineral found in salt and other foods. High levels of sodium may raise your blood pressure. Some high-sodium foods include canned food, frozen dinners, and hot dogs. The amount of sodium is listed on the food label, so you can see which foods have the highest levels. Try to limit your sodium to less than a teaspoon a day, or about 2,300 milligrams (mg) a day. If you have high blood pressure or are African American, middle-aged, or older, aim for no more than 1,500 mg of sodium per day. Ask your doctor or your dietitian about how much sodium you can have. - Ask your doctor about the amount of potassium you need. Potassium is a mineral that helps your heartbeat stay regular and muscles work right. Healthy kidneys keep the right amount of potassium in your body. However, if you have severe kidney damage, high levels of potassium may cause an abnormal heart rhythm or even make your heart stop, called cardiac arrest. Some high-potassium foods include apricots, bananas, oranges, and potatoes. + +More information about healthy eating and kidney disease is provided in the NIDDK health topics: - Eat Right to Feel Right on Hemodialysis - Nutrition for Advanced Chronic Kidney Disease in Adults - Nutrition for Early Chronic Kidney Disease in Adults - What I need to know about Eating and Diabetes",NIDDK,Prevent diabetes problems: Keep your kidneys healthy +What is (are) Prevent diabetes problems: Keep your kidneys healthy ?,"Kidney failure, also called end-stage kidney disease or ESRD, means your kidneys no longer work well enough to do their job. You will need treatment to replace the work your kidneys have stopped doing.",NIDDK,Prevent diabetes problems: Keep your kidneys healthy +What is (are) Proctitis ?,"Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. With proctitis, inflammation of the rectal liningcalled the rectal mucosais uncomfortable and sometimes painful. The condition may lead to bleeding or mucous discharge from the rectum, among other symptoms.",NIDDK,Proctitis +What is (are) Proctitis ?,"Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. With proctitis, inflammation of the rectal liningcalled the rectal mucosais uncomfortable and sometimes painful. The condition may lead to bleeding or mucous discharge from the rectum, among other symptoms.",NIDDK,Proctitis +What causes Proctitis ?,"Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following: + +- Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. Common STD infections that can cause proctitis include gonorrhea, chlamydia, syphilis, and herpes. Herpes-induced proctitis may be particularly severe in people who are also infected with the HIV virus. - Non-STD infections. Infections that are not sexually transmitted also can cause proctitis. Salmonella and Shigella are examples of foodborne bacteria that can cause proctitis. Streptococcal proctitis sometimes occurs in children who have strep throat. - Anorectal trauma. Proctitis can be caused by trauma to the anorectal areawhich includes the rectum and anusfrom anal sex or the insertion of objects or harmful substances into the rectum, including the chemicals in some enemas. - Ulcerative colitis and Crohns disease. Two forms of inflammatory bowel disease (IBD)ulcerative colitis and Crohns diseasecan cause proctitis. Ulcerative colitis causes irritation and ulcers, also called sores, in the inner lining of the colonpart of the large intestineand rectum. Crohns disease usually causes irritation in the lower small intestinealso called the ileumor the colon, but it can affect any part of the GI tract. - Radiation therapy. People who have had radiation therapy that targets the pelvic area also may develop proctitis. Examples of those at risk are people with rectal, ovarian, or prostate cancer who have received radiation treatment directed to those areas. Symptoms of radiation proctitis, most commonly rectal bleeding, will typically occur within 6 weeks after beginning radiation therapy or more than 9 months after its completion. - Antibiotics. Use of antibiotics may be associated with proctitis in some people. While meant to kill infectioncausing bacteria, antibiotics can also kill nonharmful, or commensal, bacteria in the GI tract. The loss of commensal bacteria can then allow other harmful bacteria known as Clostridium difficile to cause an infection in the colon and rectum.",NIDDK,Proctitis +What causes Proctitis ?,"Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following: + +- Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. Common STD infections that can cause proctitis include gonorrhea, chlamydia, syphilis, and herpes. Herpes-induced proctitis may be particularly severe in people who are also infected with the HIV virus. - Non-STD infections. Infections that are not sexually transmitted also can cause proctitis. Salmonella and Shigella are examples of foodborne bacteria that can cause proctitis. Streptococcal proctitis sometimes occurs in children who have strep throat. - Anorectal trauma. Proctitis can be caused by trauma to the anorectal areawhich includes the rectum and anusfrom anal sex or the insertion of objects or harmful substances into the rectum, including the chemicals in some enemas. - Ulcerative colitis and Crohns disease. Two forms of inflammatory bowel disease (IBD)ulcerative colitis and Crohns diseasecan cause proctitis. Ulcerative colitis causes irritation and ulcers, also called sores, in the inner lining of the colonpart of the large intestineand rectum. Crohns disease usually causes irritation in the lower small intestinealso called the ileumor the colon, but it can affect any part of the GI tract. - Radiation therapy. People who have had radiation therapy that targets the pelvic area also may develop proctitis. Examples of those at risk are people with rectal, ovarian, or prostate cancer who have received radiation treatment directed to those areas. Symptoms of radiation proctitis, most commonly rectal bleeding, will typically occur within 6 weeks after beginning radiation therapy or more than 9 months after its completion. - Antibiotics. Use of antibiotics may be associated with proctitis in some people. While meant to kill infectioncausing bacteria, antibiotics can also kill nonharmful, or commensal, bacteria in the GI tract. The loss of commensal bacteria can then allow other harmful bacteria known as Clostridium difficile to cause an infection in the colon and rectum.",NIDDK,Proctitis +What are the symptoms of Proctitis ?,"Tenesmusan uncomfortable and frequent urge to have a bowel movementis one of the most common symptoms of proctitis. Other symptoms may include + +- bloody bowel movements - rectal bleeding - a feeling of rectal fullness - anal or rectal pain - crampy abdominal pain - rectal discharge of mucus or pus - diarrhea or frequent passage of loose or liquid stools",NIDDK,Proctitis +How to diagnose Proctitis ?,"To diagnose proctitis, a health care provider will take a complete medical history and do a physical exam. The health care provider will ask the patient about symptoms, current and past medical conditions, family history, and sexual behavior that increases the risk of STD-induced proctitis. The physical exam will include an assessment of the patients vital signs, an abdominal exam, and a rectal exam. + +Based on the patients physical exam, symptoms, and other medical information, the doctor will decide which lab tests and diagnostic tests are needed. Lab tests may include blood tests such as a complete blood count to evaluate for blood loss or infection, stool tests to isolate and identify bacteria that may cause disease, and an STD screening. The doctor also may use one of the following diagnostic tests: + +- Rectal culture. A cotton swab is inserted into the rectum to obtain a sample that can be used in tests that isolate and identify organisms that may cause disease. - Anoscopy. This test allows examination of the anal canal and lower rectum by opening the anus using a special instrument called an anoscope. - Flexible sigmoidoscopy and colonoscopy. These tests are used to help diagnose Crohns disease. The tests are similar, but colonoscopy is used to view the entire colon and rectum, while flexible sigmoidoscopy is used to view just the lower colon and rectum. For both tests, a health care provider will provide written bowel prep instructions to follow at home before the test. The person may be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative may be required the night before the test. One or more enemas may be required the night before and about 2 hours before the test.",NIDDK,Proctitis +What are the treatments for Proctitis ?,"Treatment of proctitis depends on its cause. The goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if it is present. Only a doctor can determine the cause of proctitis and the best course of treatment. With proper medical attention, proctitis can be successfully treated. + +Proctitis from Infection + +If lab tests confirm that an STD or non-STD infection is present, medication is prescribed based on the type of infection found. Antibiotics are prescribed to kill bacteria; antiviral medications are prescribed to treat viruses. Although some STD viruses cannot be eliminated, antivirals can control their symptoms. + +Proctitis from Other Causes + +If antibiotic use triggered proctitis, the doctor may prescribe a different antibiotic designed to destroy the harmful bacteria that have developed in the intestines. + +If proctitis is caused by anorectal trauma, the activity causing the inflammation should be stopped. Healing usually occurs in 4 to 6 weeks. The doctor may recommend over-the-counter medications such as antidiarrheals and those used for pain relief, such as aspirin and ibuprofen. + +Treatment of radiation proctitis is based on symptoms. Radiation proctitis causing only mild symptoms such as occasional bleeding or tenesmus may heal without treatment. For people with persistent or severe bleeding, thermal therapy may be used to stop bleeding and inflammation. Thermal therapy is done during flexible sigmoidoscopy or colonoscopy and targets the rectal lining with a heat probe, electric current, or laser. Argon plasma coagulation is the most common thermal therapy used to control bleeding in radiation proctitis. In many cases, several treatments are required. Obstruction that results from a stricturea narrowing of the rectumcaused by radiation proctitis may be treated with stool softeners in mild cases. In people with narrower strictures, dilation to enlarge the narrow area may be required. Sucralfate, 5-aminosalicylic acidknown as 5-ASAor corticosteroid enemas can also be used to ease pain and reduce inflammation from radiation proctitis, although their effectiveness is limited. + +When a chronic IBD such as ulcerative colitis or Crohns disease causes proctitis, treatment aims to reduce inflammation, control symptoms, and induce and maintain remissiona period when the person is symptom-free. Treatment depends on the extent and severity of the disease. + +Anti-inflammation medications. Mild proctitis can often be effectively treated with topical mesalamine, either suppositories or enemas. + +Some people with IBD and proctitis cannot tolerateor may have an incomplete response torectal therapy with 5-ASA suppositories or enemas. For these people, the doctor may prescribe oral medications alone or in combination with rectal therapy. Oral medications commonly used for proctitis contain salicylate. These include sulfasalazine- or mesalamine-containing medications, such as Asacol, Dipentum, or Pentasa. Possible side effects of oral administration of sulfasalazine- or mesalaminecontaining medications include nausea, vomiting, heartburn, diarrhea, and headache. Improvement in symptoms, including a decrease in bleeding, can occur within a few days, although complete healing requires 4 to 6 weeks of therapy. + +Cortisone or steroids. These medications, also called corticosteroids, are effective at reducing inflammation. Prednisone and budesonide are generic names of two medications in this group. Corticosteroids for proctitis may be taken in pill, suppository, or enema form. When symptoms are at their worst, corticosteroids are usually prescribed in a large dose. The dosage is then gradually lowered once symptoms are controlled. Corticosteroids can cause serious side effects, including greater susceptibility to infection and osteoporosis, or weakening of the bones. + +Immune system suppressors. Medications that suppress the immune systemcalled immunosuppressive medicationsare also used to treat proctitis. The most commonly prescribed medication is 6-mercaptopurine or a related medication, azathioprine. Immunosuppressive medications work by blocking the immune reaction that contributes to inflammation. These medications may cause side effects such as nausea, vomiting, and diarrhea and may lower a persons resistance to infection. Some patients are treated with a combination of corticosteroids and immunosuppressive medications. Some studies suggest that immunosuppressive medications may enhance the effectiveness of corticosteroids. + +Infliximab (Remicade). Researchers have found that high levels of a protein produced by the immune system, called tumor necrosis factor (TNF), are present in people with Crohns disease. Infliximab is the first of a group of medications that bind to TNF substances to block the bodys inflammation response. The U.S. Food and Drug Administration approved the medication for the treatment of moderate to severe Crohns disease that does not respond to standard therapiesmesalamine substances, corticosteroids, immunosuppressive medicationsand for the treatment of open, draining fistulas. The medication is also given to people who have Crohns disease with proctitis. Some studies suggest that infliximab may enhance the effectiveness of immunosuppressive medications. + +Bacterial infection can occur with flare-ups of ulcerative colitis or Crohns disease. Antibiotics may also be used to treat flare-ups in people with IBD and proctitis. + +More information about the treatment of IBD is provided in the NIDDK health topics, Ulcerative Colitis and Crohns Disease.",NIDDK,Proctitis +What to do for Proctitis ?,"Drinking plenty of fluids is important when diarrhea or frequent passage of loose or liquid stools occurs. + +Avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen diarrhea symptoms. Some people also have problems digesting lactosethe sugar found in milk and milk productsduring or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with active, live bacterial cultures may even help people recover from diarrhea more quickly. + +If diarrhea symptoms improve, soft, bland foods can be added to the diet, including bananas, plain rice, boiled potatoes, toast, crackers, cooked carrots, and baked chicken without the skin or fat. If the diarrhea stops, a normal diet may be resumed if tolerated.",NIDDK,Proctitis +What are the treatments for Proctitis ?,"Proctitis that is not treated or does not respond to treatment may lead to complications, including + +- severe bleeding and anemiaa condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells - abscessespainful, swollen, pus-filled areas caused by infection - ulcers on the intestinal lining - fistulasabnormal connections between two parts inside the body",NIDDK,Proctitis +How to prevent Proctitis ?,"People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom. If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence. + +Other causes of proctitis cannot always be prevented. However, their symptoms can be treated by a doctor.",NIDDK,Proctitis +What to do for Proctitis ?,"- Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. - Common causes of proctitis are sexually transmitted diseases (STDs), non-STD infections, anorectal trauma, ulcerative colitis and Crohns disease, radiation therapy, and antibiotic use. - Treatment of proctitis depends on its cause; the goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if present. - With proper medical attention, proctitis can be successfully treated. - If infection is present with proctitis, antibiotics can be used to kill bacteria and antiviral medications can treat viral infections. - People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom. - If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence. - Some causes of proctitis cannot always be prevented, but their symptoms can be treated by a doctor.",NIDDK,Proctitis +What is (are) Short Bowel Syndrome ?,"Short bowel syndrome is a group of problems related to poor absorption of nutrients. Short bowel syndrome typically occurs in people who have + +- had at least half of their small intestine removed and sometimes all or part of their large intestine removed - significant damage of the small intestine - poor motility, or movement, inside the intestines + +Short bowel syndrome may be mild, moderate, or severe, depending on how well the small intestine is working. + +People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. What nutrients the small intestine has trouble absorbing depends on which section of the small intestine has been damaged or removed.",NIDDK,Short Bowel Syndrome +What is (are) Short Bowel Syndrome ?,"The small intestine is the tube-shaped organ between the stomach and large intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine is about 20 feet long and includes the duodenum, jejunum, and ileum: + +duodenumthe first part of the small intestine, where iron and other minerals are absorbed + +jejunumthe middle section of the small intestine, where carbohydrates, proteins, fat, and most vitamins are absorbed + +ileumthe lower end of the small intestine, where bile acids and vitamin B12 are absorbed",NIDDK,Short Bowel Syndrome +What is (are) Short Bowel Syndrome ?,The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool.,NIDDK,Short Bowel Syndrome +What causes Short Bowel Syndrome ?,"The main cause of short bowel syndrome is surgery to remove a portion of the small intestine. This surgery can treat intestinal diseases, injuries, or birth defects. + +Some children are born with an abnormally short small intestine or with part of their bowel missing, which can cause short bowel syndrome. In infants, short bowel syndrome most commonly occurs following surgery to treat necrotizing enterocolitis, a condition in which part of the tissue in the intestines is destroyed.1 + +Short bowel syndrome may also occur following surgery to treat conditions such as + +- cancer and damage to the intestines caused by cancer treatment - Crohn's disease, a disorder that causes inflammation, or swelling, and irritation of any part of the digestive tract - gastroschisis, which occurs when the intestines stick out of the body through one side of the umbilical cord - internal hernia, which occurs when the small intestine is displaced into pockets in the abdominal lining - intestinal atresia, which occurs when a part of the intestines doesn't form completely - intestinal injury from loss of blood flow due to a blocked blood vessel - intestinal injury from trauma - intussusception, in which one section of either the large or small intestine folds into itself, much like a collapsible telescope - meconium ileus, which occurs when the meconium, a newborn's first stool, is thicker and stickier than normal and blocks the ileum - midgut volvulus, which occurs when blood supply to the middle of the small intestine is completely cut off - omphalocele, which occurs when the intestines, liver, or other organs stick out through the navel, or belly button + +Even if a person does not have surgery, disease or injury can damage the small intestine.",NIDDK,Short Bowel Syndrome +How many people are affected by Short Bowel Syndrome ?,"Short bowel syndrome is a rare condition. Each year, short bowel syndrome affects about three out of every million people.1",NIDDK,Short Bowel Syndrome +What are the symptoms of Short Bowel Syndrome ?,"The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. Dehydration means the body lacks enough fluid and electrolyteschemicals in salts, including sodium, potassium, and chlorideto work properly. Malnutrition is a condition that develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Loose stools contain more fluid and electrolytes than solid stools. These problems can be severe and can be life threatening without proper treatment. + +Other signs and symptoms may include + +- bloating - cramping - fatigue, or feeling tired - foul-smelling stool - heartburn - too much gas - vomiting - weakness + +People with short bowel syndrome are also more likely to develop food allergies and sensitivities, such as lactose intolerance. Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. + +More information is provided in the NIDDK health topic, Lactose Intolerance.",NIDDK,Short Bowel Syndrome +What are the complications of Short Bowel Syndrome ?,"The complications of short bowel syndrome may include + +- malnutrition - peptic ulcerssores on the lining of the stomach or duodenum caused by too much gastric acid - kidney stonessolid pieces of material that form in the kidneys - small intestinal bacterial overgrowtha condition in which abnormally large numbers of bacteria grow in the small intestine + + + +Seek Help for Signs or Symptoms of Severe Dehydration People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin Infants and children are most likely to become dehydrated. Parents or caretakers should watch for the following signs and symptoms of dehydration: - dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever If left untreated, severe dehydration can cause serious health problems: - organ damage - shockwhen low blood pressure prevents blood and oxygen from getting to organs - comaa sleeplike state in which a person is not conscious",NIDDK,Short Bowel Syndrome +What are the symptoms of Short Bowel Syndrome ?,"People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: + +- excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin + +Infants and children are most likely to become dehydrated. Parents or caretakers should watch for the following signs and symptoms of dehydration: + +- dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever + +If left untreated, severe dehydration can cause serious health problems: + +- organ damage - shockwhen low blood pressure prevents blood and oxygen from getting to organs - comaa sleeplike state in which a person is not conscious",NIDDK,Short Bowel Syndrome +How to diagnose Short Bowel Syndrome ?,"A health care provider diagnoses short bowel syndrome based on + +- a medical and family history - a physical exam - blood tests - fecal fat tests - an x-ray of the small and large intestines - upper gastrointestinal (GI) series - computerized tomography (CT) scan + +Medical and Family History + +Taking a medical and family history may help a health care provider diagnose short bowel syndrome. He or she will ask the patient about symptoms and may request a history of past operations. + +Physical Exam + +A physical exam may help diagnose short bowel syndrome. During a physical exam, a health care provider usually + +- examines a patient's body, looking for muscle wasting or weight loss and signs of vitamin and mineral deficiencies - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patient's body + +Blood Tests + +A blood test involves drawing a patient's blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show mineral and vitamin levels and measure complete blood count. + +Fecal Fat Tests + +A fecal fat test measures the body's ability to break down and absorb fat. For this test, a patient provides a stool sample at a health care provider's office. The patient may also use a take-home test kit. The patient collects stool in plastic wrap that he or she lays over the toilet seat and places a sample into a container. A patient can also use a special tissue provided by the health care provider's office to collect the sample and place the tissue into the container. For children wearing diapers, the parent or caretaker can line the diaper with plastic to collect the stool. The health care provider will send the sample to a lab for analysis. A fecal fat test can show how well the small intestine is working. + +X-ray + +An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. An x-ray of the small intestine can show that the last segment of the large intestine is narrower than normal. Blocked stool causes the part of the intestine just before this narrow segment to stretch and bulge. + +Upper Gastrointestinal Series + +Upper GI series, also called a barium swallow, uses x rays and fluoroscopy to help diagnose problems of the upper GI tract. Fluoroscopy is a form of x ray that makes it possible to see the internal organs and their motion on a video monitor. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologist interprets the images. + +During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and a health care provider can see the shape of these organs more clearly on x-rays. + +A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. Upper GI series can show narrowing and widening of the small and large intestines. + +More information is provided in the NIDDK health topic, Upper GI Series. + +Computerized Tomography Scan + +Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called a contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device that takes x-rays. + +An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. CT scans can show bowel obstruction and changes in the intestines.",NIDDK,Short Bowel Syndrome +What are the treatments for Short Bowel Syndrome ?,"A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include + +- nutritional support - medications - surgery - intestinal transplant + +Nutritional Support + +The main treatment for short bowel syndrome is nutritional support, which may include the following: + +- Oral rehydration. Adults should drink water, sports drinks, sodas without caffeine, and salty broths. Children should drink oral rehydration solutionsspecial drinks that contain salts and minerals to prevent dehydrationsuch as Pedialyte, Naturalyte, Infalyte, and CeraLyte, which are sold in most grocery stores and drugstores. - Parenteral nutrition. This treatment delivers fluids, electrolytes, and liquid vitamins and minerals into the bloodstream through an intravenous (IV) tubea tube placed into a vein. Health care providers give parenteral nutrition to people who cannot or should not get their nutrition or enough fluids through eating. - Enteral nutrition. This treatment delivers liquid food to the stomach or small intestine through a feeding tubea small, soft, plastic tube placed through the nose or mouth into the stomach. Gallstonessmall, pebblelike substances that develop in the gallbladderare a complication of enteral nutrition. More information is provided in the NIDDK health topic, Gallstones. - Vitamin and mineral supplements. A person may need to take vitamin and mineral supplements during or after parenteral or enteral nutrition. - Special diet. A health care provider can recommend a specific diet plan for the patient that may include - small, frequent feedings - avoiding foods that can cause diarrhea, such as foods high in sugar, protein, and fiber - avoiding high-fat foods + +Medications + +A health care provider may prescribe medications to treat short bowel syndrome, including + +- antibiotics to prevent bacterial overgrowth - H2 blockers to treat too much gastric acid secretion - proton pump inhibitors to treat too much gastric acid secretion - choleretic agents to improve bile flow and prevent liver disease - bile-salt binders to decrease diarrhea - anti-secretin agents to reduce gastric acid in the intestine - hypomotility agents to increase the time it takes food to travel through the intestines, leading to increased nutrient absorption - growth hormones to improve intestinal absorption - teduglutide to improve intestinal absorption + +Surgery + +The goal of surgery is to increase the small intestine's ability to absorb nutrients. Approximately half of the patients with short bowel syndrome need surgery.2 Surgery used to treat short bowel syndrome includes procedures that + +- prevent blockage and preserve the length of the small intestine - narrow any dilated segment of the small intestine - slow the time it takes for food to travel through the small intestine - lengthen the small intestine + +Long-term treatment and recovery, which for some may take years, depend in part on + +- what sections of the small intestine were removed - how much of the intestine is damaged - how well the muscles of the intestine work - how well the remaining small intestine adapts over time + +Intestinal Transplant + +An intestinal transplant is surgery to remove a diseased or an injured small intestine and replace it with a healthy small intestine from a person who has just died, called a donor. Sometimes a living donor can provide a segment of his or her small intestine. + +Transplant surgeonsdoctors who specialize in performing transplant surgeryperform the surgery on patients for whom other treatments have failed and who have lifethreatening complications from long-term parenteral nutrition. An intestinal-transplant team performs the surgery in a hospital. The patient will need anesthesia. Complications of intestinal transplantation include infections and rejection of the transplanted organ. + +A successful intestinal transplant can be a life-saving treatment for people with intestinal failure caused by short bowel syndrome. By 2008, transplant surgeons had performed almost 2,000 intestinal transplantations in the United Statesapproximately 75 percent of which were in patients younger than 18 years of age.3 + +A health care provider will tailor treatment to the severity of the patient's disease: - Treatment for mild short bowel syndrome involves eating small, frequent meals; drinking fluid; taking nutritional supplements; and using medications to treat diarrhea. - Treatment for moderate short bowel syndrome is similar to that for mild short bowel syndrome, with the addition of parenteral nutrition as needed. - Treatment for severe short bowel syndrome involves use of parenteral nutrition and oral rehydration solutions. Patients may receive enteral nutrition or continue normal eating, even though most of the nutrients are not absorbed. Both enteral nutrition and normal eating stimulate the remaining intestine to work better and may allow patients to discontinue parenteral nutrition. Some patients with severe short bowel syndrome require parenteral nutrition indefinitely or surgery.",NIDDK,Short Bowel Syndrome +How to prevent Short Bowel Syndrome ?,"People can ask their health care providers about surgical techniques that minimize scar tissue. Scientists have not yet found a way to prevent short bowel syndrome that is present at birth, as its cause is unknown.",NIDDK,Short Bowel Syndrome +What is (are) Short Bowel Syndrome ?,"Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition.1",NIDDK,Short Bowel Syndrome +What to do for Short Bowel Syndrome ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing short bowel syndrome.",NIDDK,Short Bowel Syndrome +What to do for Short Bowel Syndrome ?,"- Short bowel syndrome is a group of problems related to poor absorption of nutrients. - People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. - The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. - A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include - nutritional support - medications - surgery - intestinal transplant",NIDDK,Short Bowel Syndrome +What is (are) Acquired Cystic Kidney Disease ?,"Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time. Acquired cystic kidney disease is not the same as polycystic kidney disease (PKD), another disease that causes the kidneys to develop multiple cysts. + +Acquired cystic kidney disease occurs in children and adults who have + +- chronic kidney disease (CKD)a condition that develops over many years and may lead to end-stage kidney disease, or ESRD. The kidneys of people with CKD gradually lose their ability to filter wastes, extra salt, and fluid from the blood properly. - end-stage kidney diseasetotal and permanent kidney failure that requires a kidney transplant or blood-filtering treatments called dialysis. + +The cysts are more likely to develop in people who are on kidney dialysis. The chance of developing acquired cystic kidney disease increases with the number of years a person is on dialysis. However, the cysts are caused by CKD or kidney failure, not dialysis treatments. + +More information is provided in the NIDDK health topics, kidney failureand dialysis.",NIDDK,Acquired Cystic Kidney Disease +What is (are) Acquired Cystic Kidney Disease ?,"Acquired cystic kidney disease differs from PKD in several ways. Unlike acquired cystic kidney disease, PKD is a genetic, or inherited, disorder that can cause complications such as high blood pressure and problems with blood vessels in the brain and heart. + +The following chart lists the differences: + +People with Polycystic Kidney Disease - are born with a gene that causes the disease - have enlarged kidneys - develop cysts in the liver and other parts of the body People with Acquired Cystic Kidney Disease - do not have a disease-causing gene - have kidneys that are normal-sized or smaller - do not form cysts in other parts of the body + +In addition, for people with PKD, the presence of cysts marks the onset of their disease, while people with acquired cystic kidney disease already have CKD when they develop cysts. + +More information is provided in the NIDDK health topic, Polycystic Kidney Disease.",NIDDK,Acquired Cystic Kidney Disease +How many people are affected by Acquired Cystic Kidney Disease ?,"Acquired cystic kidney disease becomes more common the longer a person has CKD. + +- About 7 to 22 percent of people with CKD already have acquired cystic kidney disease before starting dialysis treatments. - Almost 60 percent of people on dialysis for 2 to 4 years develop acquired cystic kidney disease.1 - About 90 percent of people on dialysis for 8 years develop acquired cystic kidney disease.1",NIDDK,Acquired Cystic Kidney Disease +What causes Acquired Cystic Kidney Disease ?,"Researchers do not fully understand what causes cysts to grow in the kidneys of people with CKD. The fact that these cysts occur only in the kidneys and not in other parts of the body, as in PKD, indicates that the processes that lead to cyst formation take place primarily inside the kidneys.2",NIDDK,Acquired Cystic Kidney Disease +What are the symptoms of Acquired Cystic Kidney Disease ?,"A person with acquired cystic kidney disease often has no symptoms. However, the complications of acquired cystic kidney disease can have signs and symptoms.",NIDDK,Acquired Cystic Kidney Disease +What are the complications of Acquired Cystic Kidney Disease ?,"People with acquired cystic kidney disease may develop the following complications: + +- an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. People with acquired cystic kidney disease are more likely than people in the general population to have cancerous kidney tumors. However, the chance of cancer spreading is lower in people with acquired cystic kidney disease than that of other kidney cancers not associated with acquired cystic kidney disease, and the long-term outlook is better.1",NIDDK,Acquired Cystic Kidney Disease +How to diagnose Acquired Cystic Kidney Disease ?,"A health care provider may diagnose a person with acquired cystic kidney disease based on + +- medical history - imaging tests + +Medical History + +Taking a medical history may help a health care provider diagnose acquired cystic kidney disease. A health care provider may suspect acquired cystic kidney disease if a person who has been on dialysis for several years develops symptoms such as fever, back pain, or blood in the urine. + +Imaging Tests + +To confirm the diagnosis, the health care provider may order one or more imaging tests. A radiologista doctor who specializes in medical imaginginterprets the images from these tests, and the patient does not need anesthesia. + +- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital. The images can show cysts in the kidneys as well as the kidneys' size and shape. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a nurse or technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes the x-rays. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show cysts and tumors in the kidneys. - Magnetic resonance imaging (MRI) is a test that takes pictures of the body's internal organs and soft tissues without using x-rays. A specially trained technician performs the procedure in an outpatient center or a hospital. Although the patient does not need anesthesia, a health care provider may give people with a fear of confined spaces light sedation, taken by mouth. An MRI may include the injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open-ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images from different angles to create a detailed picture of the kidneys. During the test, the patient will hear loud mechanical knocking and humming noises from the machine. + +Sometimes a health care provider may discover acquired cystic kidney disease during an imaging exam for another condition. Images of the kidneys may help the health care provider distinguish acquired cystic kidney disease from PKD.",NIDDK,Acquired Cystic Kidney Disease +What are the treatments for Acquired Cystic Kidney Disease ?,"If acquired cystic kidney disease is not causing complications, a person does not need treatment. A health care provider will treat infections with antibioticsmedications that kill bacteria. If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin. + +When a surgeon transplants a new kidney into a patient's body to treat kidney failure, acquired cystic kidney disease in the damaged kidneys, which usually remain in place after a transplant, often disappears. + +A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding. + +Have Regular Screenings to Look for Cyst or Tumor Growth Some health care providers recommend all people with end-stage kidney disease get screened for kidney cancer using CT scans or MRIs after 3 years of dialysis. People with acquired cystic kidney disease should talk with their health care provider about when to begin screening.",NIDDK,Acquired Cystic Kidney Disease +What to do for Acquired Cystic Kidney Disease ?,"No specific diet will prevent or delay acquired cystic kidney disease. In general, a diet designed for people on hemodialysis or peritoneal dialysis reduces the amount of wastes that accumulate in the body between dialysis sessions. + +More information is provided in the NIDDK health topics, Eat Right to Feel Right on Hemodialysis and Nutrition for Advanced Chronic Kidney Disease in Adults.",NIDDK,Acquired Cystic Kidney Disease +What to do for Acquired Cystic Kidney Disease ?,"- Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time. - Acquired cystic kidney disease occurs in children and adults who have - chronic kidney disease (CKD) - end-stage kidney disease (ESRD) - People with acquired cystic kidney disease may develop the following complications: - an infected cyst, which can cause fever and back pain - blood in the urine, which can signal that a cyst in the kidney is bleeding - tumors in the kidneys - To confirm the diagnosis, the health care provider may order one or more imaging tests: - Ultrasound - Computerized tomography (CT) scan - Magnetic resonance imaging (MRI) - If acquired cystic kidney disease is not causing complications, a person does not need treatment. - A health care provider will treat infections with antibioticsmedications that kill bacteria. - If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin. - A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding.",NIDDK,Acquired Cystic Kidney Disease +What is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ?,"MAGIC (Major Aspects of Growth in Children) Foundation is a national, nonprofit organization that provides support and education about growth disorders in children and growth hormone deficiency in adults. Staff will help connect people who have similar interests or concerns. + +The Human Growth Foundation (HGF) is a nonprofit organization concerned with childrens growth disorders and adult growth hormone deficiency. The HGF offers a brochure about adult growth hormone deficiency. The foundation also sponsors adult and pediatric Internet discussion forums to support the exchange of information about growth hormone deficiency and growth hormone replacement therapy. To subscribe, follow the instructions at www.hgfound.org. + +The Creutzfeldt-Jakob Disease (CJD) Foundation, Inc. was created in 1993 by two families who lost relatives to CJD and the neurologist who treated the patients. This nonprofit corporation seeks to promote awareness of CJD through research and education and to reach out to people who have lost loved ones to this illness.",NIDDK,Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List +What is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ?,"Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with Human Growth Hormone + +National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Summary) + +National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) + +Creutzfeldt-Jakob Disease. Fact sheet of the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH) + +NIH and Italian Scientists Develop Nasal Test for Human Prion Disease + +What is a prion?from Scientific American: Ask the Experts",NIDDK,Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List +What is (are) Simple Kidney Cysts ?,"Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. Simple kidney cysts are different from the cysts that develop when a person has polycystic kidney disease (PKD), which is a genetic disorder. Simple kidney cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kidney function like cysts do in people with PKD. + +Simple kidney cysts are more common as people age. An estimated 25 percent of people 40 years of age and 50 percent of people 50 years of age have simple kidney cysts.1",NIDDK,Simple Kidney Cysts +What is (are) Simple Kidney Cysts ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to filter out about 1 to 2 quarts of urine, composed of waste products and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.",NIDDK,Simple Kidney Cysts +What causes Simple Kidney Cysts ?,The cause of simple kidney cysts is not fully understood. Obstruction of tubulestiny structures within the kidneys that collect urineor deficiency of blood supply to the kidneys may play a role. Diverticulasacs that form on the tubulesmay detach and become simple kidney cysts. The role of genetic factors in the development of simple kidney cysts has not been studied.,NIDDK,Simple Kidney Cysts +What are the symptoms of Simple Kidney Cysts ?,"Simple kidney cysts usually do not cause symptoms or harm the kidneys. In some cases, however, pain can occur between the ribs and hips when cysts enlarge and press on other organs. Sometimes cysts become infected, causing fever, pain, and tenderness. Simple kidney cysts are not thought to affect kidney function, but one study found an association between the presence of cysts and reduced kidney function in hospitalized people younger than 60 years of age.1 Some studies have found a relationship between simple kidney cysts and high blood pressure. For example, high blood pressure has improved in some people after a large cyst was drained. However, this relationship is not well understood.2",NIDDK,Simple Kidney Cysts +How to diagnose Simple Kidney Cysts ?,"Most simple kidney cysts are found during imaging tests done for other reasons. When a cyst is found, the following imaging tests can be used to determine whether it is a simple kidney cyst or another, more serious condition. These imaging tests are performed at an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Ultrasound may also be performed in a health care providers office. Anesthesia is not needed though light sedation may be used for people with a fear of confined spaces who undergo magnetic resonance imaging (MRI). + +- Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract. The images can be used to distinguish harmless cysts from other problems. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. CT scans can show cysts and tumors in the kidneys. - MRI. MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. Like CT scans, MRIs can show cysts and tumors.",NIDDK,Simple Kidney Cysts +What are the treatments for Simple Kidney Cysts ?,"Treatment is not needed for simple kidney cysts that do not cause any symptoms. Simple kidney cysts may be monitored with periodic ultrasounds. + +Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using a procedure called sclerotherapy. In sclerotherapy, the doctor punctures the cyst using a long needle inserted through the skin. Ultrasound is used to guide the needle to the cyst. The cyst is drained and then filled with a solution containing alcohol to make the kidney tissue harder. The procedure is usually performed on an outpatient basis with a local anesthetic. + +If the cyst is large, surgery may be needed. Most surgeries can be performed using a laparoscopea special tool with a small, lighted video camera. The procedure is usually done under general anesthesia in a hospital. The surgeon drains the cyst and then removes or burns away its outer tissue. This type of surgery allows for a smaller incision and quicker recovery.",NIDDK,Simple Kidney Cysts +What to do for Simple Kidney Cysts ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing simple kidney cysts.",NIDDK,Simple Kidney Cysts +What to do for Simple Kidney Cysts ?,"- Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. - Simple kidney cysts usually do not cause symptoms or harm the kidneys. - Most simple kidney cysts are found during imaging tests done for other reasons. - Treatment is not needed for simple kidney cysts that do not cause any symptoms. - Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using sclerotherapy or surgery.",NIDDK,Simple Kidney Cysts +How to diagnose Kidney Disease of Diabetes ?,"People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are eGFR and urine albumin. + +- eGFR. eGFR stands for estimated glomerular filtration rate. Each kidney contains about 1 million tiny filters made up of blood vessels. These filters are called glomeruli. Kidney function can be checked by estimating how much blood the glomeruli filter in a minute. The calculation of eGFR is based on the amount of creatinine, a waste product, found in a blood sample. As the level of creatinine goes up, the eGFR goes down. Kidney disease is present when eGFR is less than 60 milliliters per minute. The American Diabetes Association (ADA) and the National Institutes of Health (NIH) recommend that eGFR be calculated from serum creatinine at least once a year in all people with diabetes. - Urine albumin. Urine albumin is measured by comparing the amount of albumin to the amount of creatinine in a single urine sample. When the kidneys are healthy, the urine will contain large amounts of creatinine but almost no albumin. Even a small increase in the ratio of albumin to creatinine is a sign of kidney damage. Kidney disease is present when urine contains more than 30 milligrams of albumin per gram of creatinine, with or without decreased eGFR. The ADA and the NIH recommend annual assessment of urine albumin excretion to assess kidney damage in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more. + +If kidney disease is detected, it should be addressed as part of a comprehensive approach to the treatment of diabetes.",NIDDK,Kidney Disease of Diabetes +How to diagnose Kidney Disease of Diabetes ?,"People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are eGFR and urine albumin. + +- eGFR. eGFR stands for estimated glomerular filtration rate. Each kidney contains about 1 million tiny filters made up of blood vessels. These filters are called glomeruli. Kidney function can be checked by estimating how much blood the glomeruli filter in a minute. The calculation of eGFR is based on the amount of creatinine, a waste product, found in a blood sample. As the level of creatinine goes up, the eGFR goes down. Kidney disease is present when eGFR is less than 60 milliliters per minute. The American Diabetes Association (ADA) and the National Institutes of Health (NIH) recommend that eGFR be calculated from serum creatinine at least once a year in all people with diabetes. - Urine albumin. Urine albumin is measured by comparing the amount of albumin to the amount of creatinine in a single urine sample. When the kidneys are healthy, the urine will contain large amounts of creatinine but almost no albumin. Even a small increase in the ratio of albumin to creatinine is a sign of kidney damage. Kidney disease is present when urine contains more than 30 milligrams of albumin per gram of creatinine, with or without decreased eGFR. The ADA and the NIH recommend annual assessment of urine albumin excretion to assess kidney damage in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more. + +If kidney disease is detected, it should be addressed as part of a comprehensive approach to the treatment of diabetes.",NIDDK,Kidney Disease of Diabetes +How to prevent Kidney Disease of Diabetes ?,"Blood Pressure Medicines + +Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more drugs to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretic can also be useful. Beta blockers, calcium channel blockers, and other blood pressure drugs may also be needed. + +An example of an effective ACE inhibitor is lisinopril (Prinivil, Zestril), which doctors commonly prescribe for treating kidney disease of diabetes. The benefits of lisinopril extend beyond its ability to lower blood pressure: it may directly protect the kidneys' glomeruli. ACE inhibitors have lowered proteinuria and slowed deterioration even in people with diabetes who did not have high blood pressure. + +An example of an effective ARB is losartan (Cozaar), which has also been shown to protect kidney function and lower the risk of cardiovascular events. + +Patients with even mild hypertension or persistent microalbuminuria should consult a health care provider about the use of antihypertensive medicines. + +Moderate-protein Diets + +In people with diabetes, excessive consumption of protein may be harmful. Experts recommend that people with kidney disease of diabetes consume the recommended dietary allowance for protein, but avoid high-protein diets. For people with greatly reduced kidney function, a diet containing reduced amounts of protein may help delay the onset of kidney failure. Anyone following a reduced-protein diet should work with a dietitian to ensure adequate nutrition. + +Intensive Management of Blood Glucose + +Antihypertensive drugs and low-protein diets can slow CKD. A third treatment, known as intensive management of blood glucose or glycemic control, has shown great promise for people with diabetes, especially for those in the early stages of CKD. + +The human body normally converts food to glucose, the simple sugar that is the main source of energy for the body's cells. To enter cells, glucose needs the help of insulin, a hormone produced by the pancreas. When a person does not make enough insulin, or the body does not respond to the insulin that is present, the body cannot process glucose, and it builds up in the bloodstream. High levels of glucose in the blood lead to a diagnosis of diabetes. + +Intensive management of blood glucose is a treatment regimen that aims to keep blood glucose levels close to normal. The regimen includes testing blood glucose frequently, administering insulin throughout the day on the basis of food intake and physical activity, following a diet and activity plan, and consulting a health care team regularly. Some people use an insulin pump to supply insulin throughout the day. + +A number of studies have pointed to the beneficial effects of intensive management of blood glucose. In the Diabetes Control and Complications Trial supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), researchers found a 50 percent decrease in both development and progression of early diabetic kidney disease in participants who followed an intensive regimen for controlling blood glucose levels. The intensively managed patients had average blood glucose levels of 150 milligrams per deciliterabout 80 milligrams per deciliter lower than the levels observed in the conventionally managed patients. The United Kingdom Prospective Diabetes Study, conducted from 1976 to 1997, showed conclusively that, in people with improved blood glucose control, the risk of early kidney disease was reduced by a third. Additional studies conducted over the past decades have clearly established that any program resulting in sustained lowering of blood glucose levels will be beneficial to patients in the early stages of CKD.",NIDDK,Kidney Disease of Diabetes +How to prevent Kidney Disease of Diabetes ?,"Blood Pressure Medicines + +Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more drugs to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretic can also be useful. Beta blockers, calcium channel blockers, and other blood pressure drugs may also be needed. + +An example of an effective ACE inhibitor is lisinopril (Prinivil, Zestril), which doctors commonly prescribe for treating kidney disease of diabetes. The benefits of lisinopril extend beyond its ability to lower blood pressure: it may directly protect the kidneys' glomeruli. ACE inhibitors have lowered proteinuria and slowed deterioration even in people with diabetes who did not have high blood pressure. + +An example of an effective ARB is losartan (Cozaar), which has also been shown to protect kidney function and lower the risk of cardiovascular events. + +Patients with even mild hypertension or persistent microalbuminuria should consult a health care provider about the use of antihypertensive medicines. + +Moderate-protein Diets + +In people with diabetes, excessive consumption of protein may be harmful. Experts recommend that people with kidney disease of diabetes consume the recommended dietary allowance for protein, but avoid high-protein diets. For people with greatly reduced kidney function, a diet containing reduced amounts of protein may help delay the onset of kidney failure. Anyone following a reduced-protein diet should work with a dietitian to ensure adequate nutrition. + +Intensive Management of Blood Glucose + +Antihypertensive drugs and low-protein diets can slow CKD. A third treatment, known as intensive management of blood glucose or glycemic control, has shown great promise for people with diabetes, especially for those in the early stages of CKD. + +The human body normally converts food to glucose, the simple sugar that is the main source of energy for the body's cells. To enter cells, glucose needs the help of insulin, a hormone produced by the pancreas. When a person does not make enough insulin, or the body does not respond to the insulin that is present, the body cannot process glucose, and it builds up in the bloodstream. High levels of glucose in the blood lead to a diagnosis of diabetes. + +Intensive management of blood glucose is a treatment regimen that aims to keep blood glucose levels close to normal. The regimen includes testing blood glucose frequently, administering insulin throughout the day on the basis of food intake and physical activity, following a diet and activity plan, and consulting a health care team regularly. Some people use an insulin pump to supply insulin throughout the day. + +A number of studies have pointed to the beneficial effects of intensive management of blood glucose. In the Diabetes Control and Complications Trial supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), researchers found a 50 percent decrease in both development and progression of early diabetic kidney disease in participants who followed an intensive regimen for controlling blood glucose levels. The intensively managed patients had average blood glucose levels of 150 milligrams per deciliterabout 80 milligrams per deciliter lower than the levels observed in the conventionally managed patients. The United Kingdom Prospective Diabetes Study, conducted from 1976 to 1997, showed conclusively that, in people with improved blood glucose control, the risk of early kidney disease was reduced by a third. Additional studies conducted over the past decades have clearly established that any program resulting in sustained lowering of blood glucose levels will be beneficial to patients in the early stages of CKD.",NIDDK,Kidney Disease of Diabetes +What to do for Kidney Disease of Diabetes ?,"- Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. - Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. - In people with diabetes, excessive consumption of protein may be harmful. - Intensive management of blood glucose has shown great promise for people with diabetes, especially for those in the early stages of CKD.",NIDDK,Kidney Disease of Diabetes +What to do for Kidney Disease of Diabetes ?,"- Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. - Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. - In people with diabetes, excessive consumption of protein may be harmful. - Intensive management of blood glucose has shown great promise for people with diabetes, especially for those in the early stages of CKD.",NIDDK,Kidney Disease of Diabetes +What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?,"Hepatitis B is a liver disease spread through contact with blood, semen, or other body fluids from a person infected with the hepatitis B virus. The disease is most commonly spread from an infected mother to her infant at birth. Hepatitis B is also spread through sex, wound-to-wound contact, and contact with items that may have blood on them, such as shaving razors, toothbrushes, syringes, and tattoo and body piercing needles. + +Hepatitis B is not spread through casual contact such as shaking hands or hugging; nor is it spread by sharing food or beverages, by sneezing and coughing, or through breastfeeding.",NIDDK,Hepatitis B: What Asian and Pacific Islander Americans Need to Know +What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?,"Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus. + +Hepatitis B becomes chronic when the bodys immune system cant get rid of the virus. Over time, having the virus can lead to inflammation of the liver; scar tissue in the liver, called cirrhosis; or liver cancer. Inflammation is the painful red swelling that results when tissues of the body become infected. Young children and people with weakened immune systems are especially at risk. People who were infected as infants have a 90 percent chance of developing chronic hepatitis B.1",NIDDK,Hepatitis B: What Asian and Pacific Islander Americans Need to Know +Who is at risk for Hepatitis B: What Asian and Pacific Islander Americans Need to Know? ?,"Since 1986, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. The vaccine, however, is unavailableor has only recently become availablein many parts of the world. You are at higher risk for hepatitis B if you or your mother was born in a region of the world where hepatitis B is common, meaning 2 percent or more of the population is chronically infected with the hepatitis B virus.1 In most Asian and Pacific Island nations, 8 to 16 percent of the population is chronically infected.2",NIDDK,Hepatitis B: What Asian and Pacific Islander Americans Need to Know +What are the symptoms of Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?,"Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include + +- yellowish eyes and skin, called jaundice - a swollen stomach or ankles - tiredness - nausea - weakness - loss of appetite - weight loss - spiderlike blood vessels, called spider angiomas, that develop on the skin",NIDDK,Hepatitis B: What Asian and Pacific Islander Americans Need to Know +Who is at risk for Hepatitis B: What Asian and Pacific Islander Americans Need to Know? ?,"Anyone can get hepatitis B, but some people are at higher risk, including + +- people who were born to a mother with hepatitis B - people who have close household contact with someone infected with the hepatitis B virus - people who have lived in parts of the world where hepatitis B is common, including most Asian and Pacific Island nations - people who are exposed to blood or body fluids at work - people on hemodialysis - people whose sex partner(s) has hepatitis B - people who have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - injection drug users - men who have sex with men",NIDDK,Hepatitis B: What Asian and Pacific Islander Americans Need to Know +What is (are) Solitary Kidney ?,"When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are + +- birth defects. People with kidney agenesis are born with only one kidney. People born with kidney dysplasia have both kidneys; however, one kidney does not function. Many people with kidney agenesis or kidney dysplasia do not discover that they have a solitary kidney until they have an x ray, an ultrasound, or surgery for an unrelated condition. - surgical removal of a kidney. Some people must have a kidney removed to treat cancer or another disease or injury. When a kidney is removed surgically due to disease or for donation, both the kidney and ureter are removed. - kidney donation. A growing number of people are donating a kidney to be transplanted into a family member or friend whose kidneys have failed. + +In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely to develop kidney disease.",NIDDK,Solitary Kidney +What is (are) Solitary Kidney ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.",NIDDK,Solitary Kidney +What to do for Solitary Kidney ?,"People with a solitary kidney do not need to eat a special diet. However, people with reduced kidney function may need to make changes to their diet to slow the progression of kidney disease. More information about recommended dietary changes is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults, and on the National Kidney Disease Education Program website. People should talk with their health care provider about what diet is right for them. + +Controlling Blood Pressure + +People can control their blood pressure by not smoking, eating a healthy diet, and taking certain medications. Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressurelowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta-blockers, calcium channel blockers, and other blood pressure medications may also be needed. + +Preventing Injury + +For people with a solitary kidney, loss of the remaining working kidney results in the need for dialysis or kidney transplant. People should make sure their health care providers know they have a solitary kidney to prevent injury from medications or medical procedures. People who participate in certain sports may be more likely to injure the kidney; this risk is of particular concern with children, as they are more likely to play sports. The American Academy of Pediatrics recommends individual assessment for contact, collision, and limited-contact sports. Protective equipment may reduce the chance of injury to the remaining kidney enough to allow participation in most sports, provided that such equipment remains in place during activity. Health care providers, parents, and patients should consider the risks of any activity and decide whether the benefits outweigh those risks.",NIDDK,Solitary Kidney +What to do for Solitary Kidney ?,"- When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are birth defects, surgical removal of a kidney, and kidney donation. - In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely to develop kidney disease. - People with a solitary kidney should be tested regularly for the following signs of kidney damage: - albuminuria - decreased glomerular filtration rate (GFR) - high blood pressure - People with a solitary kidney can protect their health by eating a nutritious diet, keeping their blood pressure at the appropriate level, and preventing injury to the working kidney.",NIDDK,Solitary Kidney +What is (are) What I need to know about Hepatitis B ?,"Hepatitis* B is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. + +Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.",NIDDK,What I need to know about Hepatitis B +What is (are) What I need to know about Hepatitis B ?,"The liver is an organ that does many important things. You cannot live without a liver. + +*See the Pronunciation Guide for tips on how to say the words in bold type. + +The liver + +- removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy",NIDDK,What I need to know about Hepatitis B +Who is at risk for What I need to know about Hepatitis B? ?,"Anyone can get hepatitis B, but those more likely to are people who + +- were born to a mother with hepatitis B - are in contact with blood, needles, or body fluids at work - live with someone who currently has an active hepatitis B infection - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe process of filtering wastes and extra water from the body by means other than the kidneys - are taking medicines that suppress the immune system, such as steroids or chemotherapy medicines - have lived in or travel often to parts of the world where hepatitis B is common - are from Asian and Pacific Island nations - are infected with HIV or hepatitis C - have injected illegal drugs - work or live in a prison - had a blood transfusion or organ transplant before the mid-1980s + +Also, men who have sex with men are more likely to get hepatitis B.",NIDDK,What I need to know about Hepatitis B +What are the symptoms of What I need to know about Hepatitis B ?,"Most people do not have any symptoms of hepatitis B. Adults and children ages 5 and older may have one or more of the following symptoms: + +- feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice + +When symptoms occur, they can begin 2 to 5 months after coming into contact with the virus. See a doctor right away if you or a child in your care has symptoms of hepatitis B.",NIDDK,What I need to know about Hepatitis B +What is (are) What I need to know about Hepatitis B ?,Acute hepatitis B is a short-term infection with the hepatitis B virus. Symptoms usually last several weeks but they can last up to 6 months. The infection sometimes clears up because your body is able to fight off the infection and get rid of the virus. Most healthy adults and children older than 5 who have hepatitis B get better without treatment.,NIDDK,What I need to know about Hepatitis B +What is (are) What I need to know about Hepatitis B ?,"Chronic hepatitis B is a long-lasting infection with the hepatitis B virus. Chronic hepatitis B occurs when the body cant get rid of the hepatitis B virus. Children, especially infants, are more likely to get chronic hepatitis B, which usually has no symptoms until signs of liver damage appear. + +Without treatment, chronic hepatitis B can cause liver cancer or severe liver damage that leads to liver failure. Liver failure occurs when the liver stops working properly.",NIDDK,What I need to know about Hepatitis B +How to diagnose What I need to know about Hepatitis B ?,"A blood test will show if you have hepatitis B. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis B. + +If you are at higher risk of getting hepatitis B, get tested. If you are pregnant, you should also get tested. Many people with hepatitis B do not know they are infected. Early diagnosis and treatment can help prevent liver damage. + +Your doctor may suggest getting a liver biopsy if chronic hepatitis B is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test. + +During the test, you lie on a table with your right hand resting above your head. Medicine is applied to numb the area where the biopsy needle will be inserted. If needed, sedatives and pain medicine are also given. The doctor uses a needle to take a small piece of liver tissue. After the test, you must lie on your right side for up to 2 hours. You will stay 2 to 4 hours after the test before being sent home. + +A liver biopsy is performed at a hospital or outpatient center by a doctor. The liver tissue is sent to a special lab where a doctor looks at the tissue with a microscope and sends a report to your doctor.",NIDDK,What I need to know about Hepatitis B +What are the treatments for What I need to know about Hepatitis B ?,"Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver. + +Medicines for Chronic Hepatitis B + +Your doctor will choose medicines or a combination of medicines that are likely to work for you. The doctor will closely watch your symptoms and schedule regular blood tests to make sure treatment is working. + +Medicines given by shots include + +- interferon - peginterferon + +Medicines taken by mouth include + +- adefovir - entecavir - lamivudine - telbivudine - tenofovir + +The length of treatment varies. Talk with your doctor before taking other prescription medicines and over-the-counter medicines. + +Liver Transplant + +A liver transplant may be necessary if chronic hepatitis B causes severe liver damage that leads to liver failure. Symptoms of severe liver damage include the symptoms of hepatitis B and + +- generalized itching - a longer than usual amount of time for bleeding to stop - easy bruising - swollen stomach or ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin + +Liver transplant is surgery to remove a diseased or injured liver and replace it with a healthy one from another person, called a donor. If your doctors tell you that you need a transplant, you should talk with them about the long-term demands of living with a liver transplant. + +A team of surgeonsdoctors who specialize in surgeryperforms a liver transplant in a hospital. You will learn how to take care of yourself after you go home and about the medicines youll need to take to protect your new liver. Medicines taken after liver transplant surgery can prevent hepatitis B from coming back. + +Testing for Liver Cancer + +Having hepatitis B increases your risk for getting liver cancer, so your doctor may suggest an ultrasound test of the liver every 6 to 12 months. Finding cancer early makes it more treatable. Ultrasound is a machine that uses sound waves to create a picture of your liver. Ultrasound is performed at a hospital or radiology center by a specially trained technician. The image, called a sonogram, can show the livers size and the presence of cancerous tumors.",NIDDK,What I need to know about Hepatitis B +What to do for What I need to know about Hepatitis B ?,"If you have chronic hepatitis B, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.",NIDDK,What I need to know about Hepatitis B +What to do for What I need to know about Hepatitis B ?,"- Hepatitis B is a virus, or infection, that causes liver disease and inflammation of the liver. - Anyone can get hepatitis B, but some people are more likely to than others. - You could get hepatitis B through contact with an infected persons blood, semen, or other body fluid. - Most people do not have any symptoms of hepatitis B. Adults and children ages 5 and older may have symptoms. - See a doctor right away if you or a child in your care has symptoms of hepatitis B. - Acute hepatitis B is a short-term infection with the hepatitis B virus. - Chronic hepatitis B is a long-lasting infection with the hepatitis B virus. Chronic hepatitis B occurs when the body cant get rid of the hepatitis B virus. - Children, especially infants, are more likely to get chronic hepatitis B. - A blood test will show if you have hepatitis B. - If you are at higher risk of getting hepatitis B, get tested. If you are pregnant, you should also get tested. - Many people with hepatitis B do not know they are infected. Early diagnosis and treatment can help prevent liver damage. - Hepatitis B is usually not treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver. - You can avoid getting hepatitis B by receiving the hepatitis B vaccine. - Tell your doctor and your dentist if you have hepatitis B. - If you are pregnant and have hepatitis B, tell the doctor and staff who deliver your baby. - See your doctor right away if you think you have been in contact with the hepatitis B virus.",NIDDK,What I need to know about Hepatitis B +What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ?,"If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can no longer do. Learning about your treatment options for kidney failure will help you make the best choice for you. Each treatment has pros and cons. Your choice of treatment will have a big effect on your daily life, such as continuing to work if you do so currently. Talking with your doctor ahead of time about your options can help you take control of your care. Understanding the treatment you choose and getting used to the idea that you need to have this treatment takes time. If you find your choice of treatment does not fit your lifestyle, talk with your doctor about picking another treatment that fits your needs better.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?,"Chronic kidney disease means you have damaged kidneys that cannot filter blood normally. Wastes then build up in your blood, harming your body. Kidney disease usually does not get better and may lead to kidney failure. If your kidneys fail, current treatment options can help you live a longer, healthier life. Some people live with kidney disease for years without needing treatment. Others progress quickly to kidney failure.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ?,"You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. None of these treatments helps the kidneys get better. However, they all can help you feel better. + +- Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. Instead, the focus is on using medicines to keep you comfortable, preserving kidney function through diet, and treating the problems of kidney failure, such as anemiaa shortage of red blood cells that can make you tiredand weak bones.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?,"Purpose of Hemodialysis + +The purpose of hemodialysis is to filter your blood. This type of dialysis uses a machine to remove harmful wastes and extra fluid, as your kidneys did when they were healthy. Hemodialysis helps control blood pressure and balance important minerals, such as potassium, sodium, calcium, and bicarbonate, in your blood. Hemodialysis is not a cure for kidney failure; however, it can help you feel better and live longer. + +How Hemodialysis Works + +Before you can begin dialysis, a surgeon will create a vascular access, usually in your arm. A vascular access lets high volumes of blood flow continuously during hemodialysis treatments to filter the largest possible amounts of blood per treatment. + +Hemodialysis uses a machine to move your blood through a filter, called a dialyzer, outside your body. A pump on the hemodialysis machine draws your blood through a needle into a tube, a few ounces at a time. Your blood then travels through the tube, which takes it to the dialyzer. Inside the dialyzer, your blood flows through thin fibers that filter out wastes and extra fluid. After the dialyzer filters your blood, another tube carries your blood back to your body. You can do hemodialysis at a dialysis center or in your home. + +Hemodialysis can replace part of your kidney function. You will also need dietary changes, medicines, and limits on water and other liquids you drink and get from food. Your dietary changes, the number of medicines you need, and limits on liquid will depend on where you receive your treatmentsat a dialysis center or at homeand how often you receive treatmentsthree or more times a week. + +Pros and Cons of Hemodialysis + +The pros and cons of hemodialysis differ for each person. What may be bad for one person may be good for another. Following is a list of the general pros and cons of dialysis center and home hemodialysis. + +Dialysis Center Hemodialysis + +Pros + +- Dialysis centers are widely available. - Trained health care providers are with you at all times and help administer the treatment. - You can get to know other people with kidney failure who also need hemodialysis. - You dont have to have a trained partner or keep equipment in your home. + +Cons + +- The center arranges everyones treatments and allows few exceptions to the schedule. - You need to travel to the center for treatment. - This treatment has the strictest diet and limits on liquids because the longer time between treatments means wastes and extra fluid can build up in your body. - You may have more frequent ups and downs in how you feel from day to day because of the longer time between sessions. - Feeling better after a treatment may take a few hours. + +Home Hemodialysis + +Pros + +- You can do the treatment at the times you choose; however, you should follow your doctors orders about how many times a week you need treatment. - You dont have to travel to a dialysis center. - You gain a sense of control over your treatment. - You will have fewer ups and downs in how you feel from day to day because of more frequent sessions. - You can do your treatments at times that will let you work outside the home. - You will have a more manageable diet and fewer limits on liquids because the shorter time between sessions prevents the buildup of wastes and extra fluid. - You can take along a hemodialysis machine when traveling. - You can spend more time with your loved ones because you dont have to go to the dialysis center three times a week. + +Cons + +- Not all dialysis centers offer home hemodialysis training and support. - You and a family member or friend will have to set aside a week or more at the beginning for training. - Helping with treatments may be stressful for your family or friend. - You need space for storing the hemodialysis machine and supplies at home. - You will need to learn to put dialysis needles into your vascular access. - Medicare and private insurance companies may limit the number of treatments they will pay for when you use home hemodialysis. Few people can afford the costs for additional treatments. + +Questions to Ask My Doctor + +You may want to ask your doctor these questions: + +- Is hemodialysis the best treatment choice for me? Why? - If Im treated at a dialysis center, can I go to the center of my choice? - What should I look for in a dialysis center? - Will my kidney doctor see me at the dialysis center? - What does hemodialysis feel like? - How will hemodialysis affect my ____ [blood pressure, diabetes, other conditions]? - Is home hemodialysis available in my area? What type of training will I need? Who will train my partner and me? - Will I be able to keep working? Can I have treatments at night? Will I be able to care for my children? - How much should I exercise? - Whom do I contact if I have problems? - Who will be on my health care team? How can the members of my health care team help me? - If I do home hemodialysis, will my insurance pay for more than three sessions a week? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision? + +More information about Hemodialysis and Home Hemodialysis is provided in the NIDDK health topics, Treatment Methods for Kidney Failure: Hemodialysis and Home Hemodialysis. See also the Kidney Failure Treatment Comparison Chart in this booklet, which compares hemodialysis, peritoneal dialysis, and transplantation.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?,"Purpose of Peritoneal Dialysis + +The purpose of peritoneal dialysis is to filter wastes and extra fluid from your body. This type of dialysis uses the lining of your bellythe space in your body that holds your stomach, bowels, and liverto filter your blood. This lining, called the peritoneum, acts to do the work of your kidneys. + +How Peritoneal Dialysis Works + +A doctor will place a soft tube, called a catheter, in your belly a few weeks before you start treatment. The catheter stays in your belly permanently. When you start peritoneal dialysis, you will empty a kind of salty water, called dialysis solution, from a plastic bag through the catheter into your belly. When the bag is empty, you can disconnect your catheter from the bag so you can move around and do your normal activities. While the dialysis solution is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the used dialysis solution through another tube into a drain bag. You can throw away the used dialysis solution, now filled with wastes and extra fluid, in a toilet or tub. Then you start over with a fresh bag of dialysis solution. The process of emptying the used dialysis solution and refilling your belly with fresh solution is called an exchange. The process goes on continuously, so you always have dialysis solution in your belly soaking up wastes and extra fluid from your body. + +Types of Peritoneal Dialysis + +Two types of peritoneal dialysis are available. After you have learned about the types of peritoneal dialysis, you can choose the type that best fits your life. If one schedule or type of peritoneal dialysis does not suit you, talk with your doctor about trying the other type. + +- Continuous ambulatory peritoneal dialysis does not require a machine and you can do it in any clean, well-lit place. The time period that the dialysis solution is in your belly is the dwell time. With continuous ambulatory peritoneal dialysis, the dialysis solution stays in your belly for a dwell time of 4 to 6 hours, or more. The process of draining the used dialysis solution and replacing it with fresh solution takes about 30 to 40 minutes. Most people change the dialysis solution at least four times a day and sleep with solution in their belly at night. With continuous ambulatory peritoneal dialysis, you do not have to wake up and perform dialysis tasks during the night. - Continuous cycler-assisted peritoneal dialysis uses a machine called a cycler to fill and empty your belly three to five times during the night while you sleep. In the morning, you begin one exchange with a dwell time that lasts the entire day. You may do an additional exchange in the middle of the afternoon without the cycler to increase the amount of waste removed and to reduce the amount of fluid left behind in your body. + +You may need a combination of continuous ambulatory peritoneal dialysis and continuous cycler-assisted peritoneal dialysis if you weigh more than 175 pounds or if your peritoneum filters wastes slowly. For example, some people use a cycler at night and perform one exchange during the day. Others do four exchanges during the day and use a minicycler to perform one or more exchanges during the night. Youll work with your health care team to find the best schedule for you. + +Pros and Cons of Peritoneal Dialysis + +Each type of peritoneal dialysis has pros and cons. + +Continuous Ambulatory Peritoneal Dialysis + +Pros + +- You can do continuous ambulatory peritoneal dialysis alone. - You can do continuous ambulatory peritoneal dialysis at the times you choose, as long as you perform the required number of exchanges each day. - You can do continuous ambulatory peritoneal dialysis in many locations. - You can travel as long as you bring dialysis bags with you or have them delivered to your destination. - You dont need a machine for continuous ambulatory peritoneal dialysis. - You gain a sense of control over your treatment. + +Cons + +- Continuous ambulatory peritoneal dialysis can disrupt your daily schedule. - Continuous ambulatory peritoneal dialysis is a continuous treatment, and you should do all exchanges 7 days a week. - Boxes of dialysis solution will take up space in your home. + +Continuous Cycler-assisted Peritoneal Dialysis + +Pros + +- You can do exchanges at night, while you sleep. - You may not have to perform exchanges during the day. + +Cons + +- You need a machine. - Your connection to the cycler limits your movement at night. + +Questions to Ask My Doctor + +- Is peritoneal dialysis the best treatment choice for me? Why? If yes, which type is best? - What type of training do I need, and how long will it take? - What does peritoneal dialysis feel like? - How will peritoneal dialysis affect my ____ [blood pressure, diabetes, other conditions]? - Will I be able to keep working? Will I be able to care for my children? - How much should I exercise? - Where do I store supplies? - How often do I see my doctor? - Who will be on my health care team? How can the members of my health care team help me? - Whom do I contact if I have problems? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision? + +More information about Peritoneal Dialysis is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Peritoneal Dialysis. See also the Kidney Failure Treatment Comparison Chart, which compares peritoneal dialysis, hemodialysis, and transplantation.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?,"What should I know about kidney transplantation? + +The purpose of kidney transplantation is to surgically place a healthy kidney from a donora person who has just died or a living person, most often a family memberinto your body. A kidney from someone who has just died is a deceased donor kidney. A kidney from a living person is a living donor kidney. A functioning kidney transplant does a better job of filtering wastes and keeping you healthy than dialysis. + +How Kidney Transplantation Works + +Surgeonsdoctors who specialize in surgeryplace most transplanted kidneys in the lower front part of your abdomen. The kidney is connected to an artery, which brings unfiltered blood into the kidney, and a vein, which takes filtered blood out of the kidney. The surgeon also transplants the ureter from the donor to let urine from the new kidney flow to your bladder. Unless your damaged kidneys cause problems such as infection, they can remain in their normal position. The transplanted kidney takes over the job of filtering your blood. Your body normally attacks anything it sees as foreign, so to keep your body from attacking the kidney you need to take medicines called immunosuppressants for as long as the transplanted kidney functions. + +Pros and Cons of Kidney Transplantation + +Following is a list of the pros and cons of kidney transplantation. + +Kidney Transplantation + +Pros + +- A transplanted kidney works like a healthy kidney. - If you have a living donor, you can choose the time of your operation. - You may feel healthier and have an improved quality of life. - You have fewer dietary restrictions. - You wont need dialysis. - People who receive a donated kidney have a greater chance of living a longer life than those who stay on dialysis. + +Cons + +- Transplantation requires surgery. - You will go through extensive medical testing at the transplant clinic. - You may need to wait years for a deceased donor kidney. - Your body may reject the new kidney, so one transplant may not last a lifetime. - Youll need to take immunosuppressants, which may cause other health problems, for as long as the transplanted kidney functions. + +Questions to Ask My Doctor + +You may want to ask your doctor these questions: + +- Is transplantation the best treatment choice for me? Why? - What are my chances of having a successful transplant? - How do I find out whether a family member or friend can donate? - What are the risks to a family member or friend who donates? - If a family member or friend does not donate, who will place me on a waiting list for a kidney? How long will I have to wait? - How will I know if my donor kidney is working? - How long does a transplanted kidney function? - What side effects do immunosuppressants cause? - Who will be on my transplant team? How can the members of my transplant team help me? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision? + +More information about Transplantation is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation. See also the Kidney Failure Treatment Comparison Chart, which compares peritoneal dialysis, hemodialysis, and transplantation.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ?,"Conservative management for kidney failure is the choice to say no to or stop dialysis treatments. For many people, dialysis not only extends life, it also improves the quality of life. For others who have serious conditions in addition to kidney failure, dialysis may seem like a burden that only prolongs suffering. If you have serious conditions in addition to kidney failure, dialysis may not prolong your life or improve the quality of your life. + +You have the right to say no to or stop dialysis. You may want to speak with your doctor, spouse, family, counselor, or renal social worker, who helps people with kidney disease, to help you make this decision. + +If you stop dialysis treatments or say you do not want to begin them, you may live for a few weeks or for several months, depending on your health and your remaining kidney function. You may choose to receive care from a hospicea facility or home program designed to meet the physical and emotional needs of the terminally illduring this time. Hospice care focuses on relief of pain and other symptoms. Whether or not you choose to use a hospice, your doctor can give you medicines to make you more comfortable. Your doctor can also give you medicines to treat the problems of kidney failure, such as anemia or weak bones. You may restart dialysis treatment if you change your mind. + +Advance Directives + +An advance directive is a statement or document in which you give instructions either to withhold certain treatments, such as dialysis, or to provide them, depending on your wishes and the specific circumstances. Even if you are happy with your quality of life on dialysis, you should think about circumstances that might make you want to stop dialysis treatments. At some point in a medical crisis, you might lose the ability to tell your health care team and loved ones what you want. Advance directives may include + +- a living will - a durable power of attorney for health care decisions - a do not resuscitate (DNR) ordera legal form that tells your health care team you do not want cardiopulmonary resuscitation (CPR) or other life-sustaining treatment if your heart were to stop or if you were to stop breathing. + +A living will is a document that details the conditions under which you would want to refuse treatment. You may state that you want your health care team to use all available means to sustain your life, or you may direct that you be withdrawn from dialysis if you fall into a coma from which you most likely wont wake up. In addition to dialysis, you may choose or refuse the following life-sustaining treatments: + +- CPR - feedings through a tube in your stomach - mechanical or artificial means to help you breathe - medicines to treat infections - surgery - receiving blood + +Refusing to have CPR is the same as a DNR order. If you choose to have a DNR order, your doctor will place the order in your medical chart. + +A durable power of attorney for health care decisions or a health care proxy is a document you use to assign a person to make health care decisions for you in the event you cannot make them for yourself. Make sure the person you name understands your values and will follow your instructions. + +Each state has its own laws on advance directives. You can obtain a form for an advance medical directive thats valid in your state from the National Hospice and Palliative Care Organizationsee For More Information.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What to do for Kidney Failure: Choosing a Treatment That's Right for You ?,"All of the treatment options for kidney failure require changes and restrictions in your diet. + +Hemodialysis + +Hemodialysis has the most restrictions. You should watch how much water and other liquids you get from food and drinks and avoid getting too much sodium, often from salt; potassium; and phosphorus. You may find it difficult to limit phosphorus because many foods that are high in phosphorus also provide the protein you need. Hemodialysis can remove protein from the body, so you should eat foods with high-quality protein, such as meat, fish, and eggs. Limit your phosphorus by avoiding foods such as beans, peas, nuts, tea, and colas. You may also need to take a pill called a phosphate binder that keeps phosphorus in your food from entering your bloodstream. Talk with your dialysis centers dietitian to find a hemodialysis meal plan that works for you. + +More information about nutrition for people who are on hemodialysis is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis. + +Peritoneal Dialysis + +Like hemodialysis, peritoneal dialysis requires limits on sodium and phosphorus. You may need to take a phosphate binder. The liquid limitations in peritoneal dialysis may not be as strict as those for hemodialysis. In fact, you may need to drink more water and other liquids if your peritoneal dialysis treatments remove too much fluid from your body. Peritoneal dialysis removes potassium from the body, so you may need to eat potassium-rich foods such as potatoes, tomatoes, oranges, and bananas. However, be careful not to eat too much potassium because it can cause an unsteady heartbeat. Peritoneal dialysis removes even more protein than hemodialysis, so eating foods with high-quality protein is important. You may need to limit calories because your body absorbs sugar from the dialysis solution. + +Kidney Transplantation + +Kidney transplantation has the fewest restrictions on your diet. You should limit sodium because it can raise your blood pressure. Medicines that you take after the transplant can cause you to gain weight, so you may need to limit calories. + +Conservative Management + +The diet for conservative management limits protein. Protein breaks down into waste products the kidneys must remove. Limiting protein may reduce the amount of work the kidneys have to do so they will last longer. + + + +Hemodialysis Peritoneal Dialysis Kidney Transplantation In Center Home CAPD CCPD Deceased Living Schedule Three treatments a week for 3 to 5 hours or more. More flexibility in determining your schedule of treatments. Four to six exchanges a day, every day. Three to five exchanges a night, every night, with an additional exchange begun first thing in the morning. You may wait several years before a suitable kidney is available. If a friend or family member is donating, you can schedule the operation when you're both ready. After the operation, you'll have regular checkups with your doctor. Location Dialysis center. Home. Any clean environment that allows solution exchanges. The transplant operation takes place in a hospital. Availability Available in most communities; may require travel in some rural areas. Generally available, but not widely used because of equipment requirements. Widely available. Widely available. Transplant centers are located throughout the country. However, the demand for kidneys is far greater than the supply. Equipment and Supplies No equipment or supplies in the home. Hemodialysis machine connected to plumbing; chair. Bags of dialysis solution take up storage space. Cycling machine; bags of dialysis solution. No equipment or supplies needed. Training Required Little training required; clinic staff perform most tasks. You and a helper must attend several training sessions. You'll need to attend several training sessions. You'll need to learn about your medications and when to take them. Diet Must limit fluids, sodium, potassium, and phosphorus. Must limit sodium and calories. Fewer dietary restrictions. Level of Freedom Little freedom during treatments. Greater freedom on non-treatment days. More freedom to set your own schedule. You're still linked to a machine for several hours a week. You can move around, exercise, work, drive, etc., with solution in your abdomen. You're linked to a machine during the night. You're free from exchanges during the day. Offers the greatest amount of freedom. Level of Responsibility Some patients prefer to let clinic staff perform all tasks. You and your helper are responsible for cleaning and setting up equipment and monitoring vital signs. Can be stressful on family helpers. You must perform exchanges four to six times a day, every day. You must set up your cycler every night. You must take immunosuppressants every day for as long as the transplanted kidney functions. + +More information about the treatments for kidney failure is provided in the NIDDK health communication program, National Kidney Disease Education Program.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What to do for Kidney Failure: Choosing a Treatment That's Right for You ?,"- You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. - Hemodialysis - Peritoneal dialysis - Kidney transplantation - Conservative management - None of these treatments helps the kidneys get better. However, they all can help you feel better. - Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. - All of the treatment options for kidney failure require changes and restrictions in your diet.",NIDDK,Kidney Failure: Choosing a Treatment That's Right for You +What is (are) Monitor Your Diabetes ?,"Sometimes, no matter how hard you try to keep your blood glucose levels in your target range, they will be too high or too low. Blood glucose thats too high or too low can make you feel sick. If you try to control your high or low blood glucose and cant, you may become even sicker and need help. Talk with your doctor to learn how to handle these emergencies. + +Learn about High Blood Glucose Levels + +If your blood glucose levels stay above 180 for more than 1 to 2 hours, they may be too high. See the ""Daily Diabetes Record Page."" High blood glucose, also called hyperglycemia, means you dont have enough insulin in your body. High blood glucose can happen if you + +- miss taking your diabetes medicines - eat too much - dont get enough physical activity - have an infection - get sick - are stressed - take medicines that can cause high blood glucose + +Be sure to tell your doctor about other medicines you take. When youre sick, be sure to check your blood glucose levels and keep taking your diabetes medicines. Read more about how to take care of yourself when youre sick in the section Take Care of Your Diabetes during Special Times or Events. + +Signs that your blood glucose levels may be too high are the following: + +- feeling thirsty - feeling weak or tired - headaches - urinating often - having trouble paying attention - blurry vision - yeast infections + +Very high blood glucose may also make you feel sick to your stomach. + +If your blood glucose levels are high much of the time, or if you have symptoms of high blood glucose, call your doctor. You may need a change in your healthy eating plan, physical activity plan, or medicines. + +Learn about Low Blood Glucose Levels + +If your blood glucose levels drop below 70, you have low blood glucose, also called hypoglycemia. Low blood glucose can come on fast and can be caused by + +- taking too much diabetes medicine - missing or delaying a meal - being more physically active than usual - drinking alcoholic beverages + +Sometimes, medicines you take for other health problems can cause your blood glucose levels to drop. + +Signs your blood glucose levels may be too low are the following: + +- hunger - dizziness or shakiness - confusion - being pale - sweating more - weakness - anxiety or moodiness - headaches - a fast heartbeat + +If your blood glucose levels drop lower, you could have severe hypoglycemia, where you pass out or have a seizure. A seizure occurs when cells in the brain release a rush of energy that can cause changes in behavior or muscle contractions. Some seizures are life threatening. + +If you have any of these symptoms, check your blood glucose levels. If your blood glucose levels are less than 70, have one of the following right away: + +- three or four glucose tablets - one serving of glucose gelthe amount equal to 15 grams of carbohydrates - 1/2 cup, or 4 ounces, of fruit juice - 1/2 cup, or 4 ounces, of a regularnondietsoft drink - 1 cup, or 8 ounces, of milk - five or six pieces of hard candy - 1 tablespoon of sugar, syrup, or honey + +After 15 minutes, check your blood glucose levels again. Repeat these steps until your blood glucose levels are 70 or above. If it will be at least 1 hour before your next meal, eat a snack. + +If you take diabetes medicines that can cause low blood glucose, always carry food for emergencies. You should also wear a medical identification bracelet or necklace that says you have diabetes. + +If you take insulin, keep a prescription glucagon kit at home and at other places where you often go. A glucagon kit has a vial of glucagon, a syringe, and a needle to inject the glucagon. Given as a shot, the glucagon quickly raises blood glucose. If you have severe hypoglycemia, youll need someone to help bring your blood glucose levels back to normal by giving you a glucagon shot. Show your family, friends, and coworkers how to give you a glucagon shot when you have severe hypoglycemia. Someone should call 911 for help if a glucagon kit is not available. + +Action Steps If You Take Insulin - Tell your doctor if you have low blood glucose, especially at the same time of the day or night, several times in a row. - Tell your doctor if youve passed out from low blood glucose. - Ask your doctor about glucagon. Glucagon is a medicine that raises blood glucose. - Show your family, friends, and coworkers how to give you a glucagon shot when you have severe hypoglycemia. - When you have severe hypoglycemia, someone should call 911 for help if a glucagon shot is not available. + + + +Action Steps If You Don't Take Insulin - Tell your doctor if you have low blood glucose, especially at the same time of the day or night, several times in a row. - Tell your doctor about other medicines you are taking. - Ask your doctor whether your diabetes medicines might cause low blood glucose. + +More information is provided in the NIDDK health topic, Hypoglycemia. + + + +Go to Prevent Diabetes Problems + +Return to Take Care of Your Diabetes Each Day + + + +This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. + +The NIDDK would like to thank: Michael L. Parchman, M.D., M.P.H., F.A.A.F.P., MacColl Center for Health Care Innovation, Group Health Research Institute; Marion J. Franz, M.S., R.D., L.D., C.D.E., Minneapolis, Minnesota + +This information is not copyrighted. The NIDDK encourages people to share this content freely. + + + + + +February 2014",NIDDK,Monitor Your Diabetes +What is (are) Diarrhea ?,"Diarrhea is loose, watery stools. Having diarrhea means passing loose stools three or more times a day. Acute diarrhea is a common problem that usually lasts 1 or 2 days and goes away on its own. + +Diarrhea lasting more than 2 days may be a sign of a more serious problem. Chronic diarrheadiarrhea that lasts at least 4 weeksmay be a symptom of a chronic disease. Chronic diarrhea symptoms may be continual or they may come and go. + +Diarrhea of any duration may cause dehydration, which means the body lacks enough fluid and electrolyteschemicals in salts, including sodium, potassium, and chlorideto function properly. Loose stools contain more fluid and electrolytes and weigh more than solid stools. + +People of all ages can get diarrhea. In the United States, adults average one bout of acute diarrhea each year,1 and young children have an average of two episodes of acute diarrhea each year.2",NIDDK,Diarrhea +What causes Diarrhea ?,"Acute diarrhea is usually caused by a bacterial, viral, or parasitic infection. Chronic diarrhea is usually related to a functional disorder such as irritable bowel syndrome or an intestinal disease such as Crohns disease. + +The most common causes of diarrhea include the following: + +- Bacterial infections. Several types of bacteria consumed through contaminated food or water can cause diarrhea. Common culprits include Campylobacter, Salmonella, Shigella, and Escherichia coli (E. coli). - Viral infections. Many viruses cause diarrhea, including rotavirus, norovirus, cytomegalovirus, herpes simplex virus, and viral hepatitis. Infection with the rotavirus is the most common cause of acute diarrhea in children. Rotavirus diarrhea usually resolves in 3 to 7 days but can cause problems digesting lactose for up to a month or longer. - Parasites. Parasites can enter the body through food or water and settle in the digestive system. Parasites that cause diarrhea include Giardia lamblia, Entamoeba histolytica, and Cryptosporidium. - Functional bowel disorders. Diarrhea can be a symptom of irritable bowel syndrome. - Intestinal diseases. Inflammatory bowel disease, ulcerative colitis, Crohns disease, and celiac disease often lead to diarrhea. - Food intolerances and sensitivities. Some people have difficulty digesting certain ingredients, such as lactose, the sugar found in milk and milk products. Some people may have diarrhea if they eat certain types of sugar substitutes in excessive quantities. - Reaction to medicines. Antibiotics, cancer drugs, and antacids containing magnesium can all cause diarrhea. + +Some people develop diarrhea after stomach surgery, which may cause food to move through the digestive system more quickly. + +People who visit certain foreign countries are at risk for travelers diarrhea, which is caused by eating food or drinking water contaminated with bacteria, viruses, or parasites. Travelers diarrhea can be a problem for people traveling to developing countries in Africa, Asia, Latin America, and the Caribbean. Visitors to Canada, most European countries, Japan, Australia, and New Zealand do not face much risk for travelers diarrhea. + +In many cases, the cause of diarrhea cannot be found. As long as diarrhea goes away on its own within 1 to 2 days, finding the cause is not usually necessary.",NIDDK,Diarrhea +What are the symptoms of Diarrhea ?,"Diarrhea may be accompanied by cramping, abdominal pain, nausea, an urgent need to use the bathroom, or loss of bowel control. Some infections that cause diarrhea can also cause a fever and chills or bloody stools. + +Dehydration + +Diarrhea can cause dehydration. Loss of electrolytes through dehydration affects the amount of water in the body, muscle activity, and other important functions. + +Dehydration is particularly dangerous in children, older adults, and people with weakened immune systems. Dehydration must be treated promptly to avoid serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious. + +Signs of dehydration in adults include + +- thirst - less frequent urination than usual - dark-colored urine - dry skin - fatigue - dizziness - light-headedness + +Signs of dehydration in infants and young children include + +- dry mouth and tongue - no tears when crying - no wet diapers for 3 hours or more - sunken eyes, cheeks, or soft spot in the skull - high fever - listlessness or irritability + +Also, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released. + +Anyone with signs of dehydration should see a health care provider immediately. Severe dehydration may require hospitalization. + +Although drinking plenty of water is important in preventing dehydration, water does not contain electrolytes. Adults can prevent dehydration by also drinking liquids that contain electrolytes, such as fruit juices, sports drinks, caffeine-free soft drinks, and broths. Children with diarrhea should be given oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration.",NIDDK,Diarrhea +How to diagnose Diarrhea ?,"If acute diarrhea lasts 2 days or less, diagnostic tests are usually not necessary. If diarrhea lasts longer or is accompanied by symptoms such as fever or bloody stools, a doctor may perform tests to determine the cause. + +Diagnostic tests to find the cause of diarrhea may include the following: + +- Medical history and physical examination. The doctor will ask about eating habits and medication use and will perform a physical examination to look for signs of illness. - Stool culture. A sample of stool is analyzed in a laboratory to check for bacteria, parasites, or other signs of disease and infection. - Blood tests. Blood tests can be helpful in ruling out certain diseases. - Fasting tests. To find out if a food intolerance or allergy is causing the diarrhea, the doctor may ask a person to avoid foods with lactose, carbohydrates, wheat, or other ingredients to see whether the diarrhea responds to a change in diet. - Sigmoidoscopy or colonoscopy. These tests may be used to look for signs of intestinal diseases that cause chronic diarrhea. For sigmoidoscopy, the doctor uses a thin, flexible, lighted tube with a lens on the end to look at the inside of the rectum and lower part of the colon. Colonoscopy is similar to sigmoidoscopy, but it allows the doctor to view the entire colon.",NIDDK,Diarrhea +What are the treatments for Diarrhea ?,"In most cases of diarrhea, the only treatment necessary is replacing lost fluids and electrolytes to prevent dehydration. + +Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrheaa sign of bacterial or parasitic infectionshould not use these medicines. If diarrhea is caused by bacteria or parasites, over-the-counter medicines may prolong the problem, so doctors usually prescribe antibiotics instead. + +Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given with a doctors guidance.",NIDDK,Diarrhea +What to do for Diarrhea ?,"Until diarrhea subsides, avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen symptoms. These foods can aggravate diarrhea. Some people also have problems digesting lactose during or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with active, live bacterial cultures may even help people recover from diarrhea more quickly. + +As symptoms improve, soft, bland foods can be added to the diet, including bananas, plain rice, boiled potatoes, toast, crackers, cooked carrots, and baked chicken without the skin or fat. For children, the health care provider may also recommend a bland diet. Once the diarrhea stops, the health care provider will likely encourage children to return to a normal and healthy diet if it can be tolerated. Infants with diarrhea should be given breast milk or full-strength formula as usual, along with oral rehydration solutions. Some children recovering from viral diarrheas have problems digesting lactose for up to a month or more.",NIDDK,Diarrhea +How to prevent Diarrhea ?,"Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea. + +Rotavirus Diarrhea + +Two oral vaccines have been approved by the U.S. Food and Drug Administration to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). RotaTeq is given to infants in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when infants are 6 weeks old, and the second is given at least 4 weeks later but before infants are 24 weeks old. + +Parents of infants should discuss rotavirus vaccination with a health care provider. For more information, parents can visit the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus. + +Travelers Diarrhea + +To prevent travelers diarrhea, people traveling from the United States to developing countries should avoid + +- drinking tap water, using tap water to brush their teeth, or using ice made from tap water - drinking unpasteurized milk or milk products - eating raw fruits and vegetables, including lettuce and fruit salads, unless they peel the fruits or vegetables themselves - eating raw or rare meat and fish - eating meat or shellfish that is not hot when served - eating food from street vendors + +Travelers can drink bottled water, soft drinks, and hot drinks such as coffee or tea. + +People concerned about travelers diarrhea should talk with a health care provider before traveling. The health care provider may recommend that travelers bring medicine with them in case they develop diarrhea during their trip. Health care providers may advise some peopleespecially people with weakened immune systemsto take antibiotics before and during a trip to help prevent travelers diarrhea. Early treatment with antibiotics can shorten a bout of travelers diarrhea.",NIDDK,Diarrhea +What to do for Diarrhea ?,"- Diarrhea is loose, watery stools. Having diarrhea means passing loose stools three or more times a day. - Diarrhea is a common problem that usually goes away on its own. - The most common causes of diarrhea include bacterial, viral, and parasitic infections; functional bowel disorders; intestinal diseases; food intolerances and sensitivities; and reactions to medicines. - Diarrhea can cause dehydration, which is particularly dangerous in children, older adults, and people with weakened immune systems. - Treatment involves replacing lost fluids and electrolytes. Depending on the cause of the problem, medication may also be needed to stop the diarrhea or treat an infection. - Children with diarrhea should be given oral rehydration solutions to replace lost fluids and electrolytes. - Adults with any of the following symptoms should see a health care provider: signs of dehydration, diarrhea for more than 2 days, severe pain in the abdomen or rectum, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - Children with any of the following symptoms should see a health care provider: signs of dehydration, diarrhea for more than 24 hours, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - People can take steps to prevent two types of diarrhearotavirus diarrhea and travelers diarrhea.",NIDDK,Diarrhea +What is (are) 4 Steps to Manage Your Diabetes for Life ?,"What is diabetes? + +There are three main types of diabetes: + +- Type 1 diabetes Your body does not make insulin. This is a problem because you need insulin to take the sugar (glucose) from the foods you eat and turn it into energy for your body. You need to take insulin every day to live. - Type 2 diabetes Your body does not make or use insulin well. You may need to take pills or insulin to help control your diabetes. Type 2 is the most common type of diabetes. - Gestational (jest-TAY-shun-al) diabetes Some women get this kind of diabetes when they are pregnant. Most of the time, it goes away after the baby is born. But even if it goes away, these women and their children have a greater chance of getting diabetes later in life. + +You are the most important member of your health care team. + +You are the one who manages your diabetes day by day. Talk to your doctor about how you can best care for your diabetes to stay healthy. Some others who can help are: + + + +- dentist - diabetes doctor - diabetes educator - dietitian - eye doctor - foot doctor - friends and family - mental health counselor - nurse - nurse practitioner - pharmacist - social worker + +How to learn more about diabetes. + +- Take classes to learn more about living with diabetes. To find a class, check with your health care team, hospital, or area health clinic. You can also search online. - Join a support group in-person or online to get peer support with managing your diabetes. - Read about diabetes online. Go to National Diabetes Education Program. + +Take diabetes seriously. + +You may have heard people say they have a touch of diabetes or that their sugar is a little high. These words suggest that diabetes is not a serious disease. That is not correct. Diabetes is serious, but you can learn to manage it. + +People with diabetes need to make healthy food choices, stay at a healthy weight, move more every day, and take their medicine even when they feel good. Its a lot to do. Its not easy, but its worth it! + +Why take care of your diabetes? + +Taking care of yourself and your diabetes can help you feel good today and in the future. When your blood sugar (glucose) is close to normal, you are likely to: + +- have more energy - be less tired and thirsty - need to pass urine less often - heal better - have fewer skin or bladder infections + +You will also have less chance of having health problems caused by diabetes such as: + +- heart attack or stroke - eye problems that can lead to trouble seeing or going blind - pain, tingling, or numbness in your hands and feet, also called nerve damage - kidney problems that can cause your kidneys to stop working - teeth and gum problems + +Actions you can take + +- Ask your health care team what type of diabetes you have. - Learn where you can go for support. - Learn how caring for your diabetes helps you feel good today and in the future.",NIDDK,4 Steps to Manage Your Diabetes for Life +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. Anemialow red blood cell countcan result from CKD because the kidneys stop making enough erythropoietin, a hormone that causes bone marrow to make red blood cells. After months or years, CKD may progress to permanent kidney failure, which requires a person to have a kidney transplant or regular blood filtering treatments called dialysis.",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A health care provider may refer a patient to a registered dietitian to help with the patient's food plan. Many insurance policies cover MNT when recommended by a health care provider. Anyone who qualifies for Medicare can receive a benefit for MNT from a registered dietitian or nutrition professional when a health care provider provides a referral indicating that the person has diabetes or kidney disease. + +One way to locate a qualified dietitian is to contact the Academy of Nutrition and Dietetics at www.eatright.organd click on ""Find a Registered Dietitian."" Users can enter their address or ZIP code for a list of dietitians in their area. A person looking for dietary advice to prevent kidney damage should click on ""Renal (Kidney) Nutrition"" in the specialty field. Dietitians who specialize in helping people with CKD are called renal dietitians. + +Top",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"As CKD progresses, people often lose their appetites because they find that foods do not taste the same. As a result, they consume fewer caloriesimportant units of energy in foodand may lose too much weight. Renal dietitians can help people with advanced CKD find healthy ways to add calories to their diet if they are losing too much weight. + +Top",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Protein is an essential part of any diet. Proteins help build and maintain muscle, bone, skin, connective tissue, internal organs, and blood. They help fight disease and heal wounds. But proteins also break down into waste products that must be removed from the blood by the kidneys. Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. + +Health care providers recommend that people with CKD eat moderate or reduced amounts of protein. However, restricting protein could lead to malnutrition, so people with CKD need to be careful. The typical American diet contains more than enough protein. Learning about portion sizes can help people limit protein intake without endangering their health.",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute. A 3-ounce serving of meat is about the size of a deck of cards or the palm of a persons hand. + +A renal dietitian can help people learn about the amount and sources of protein in their diet. Animal protein in egg whites, cheese, chicken, fish, and red meats contain more of the essential nutrients a body needs. With careful meal planning, a well-balanced vegetarian diet can also provide these nutrients. A renal dietitian can help people with advanced CKD make small adjustments in their eating habits that can result in significant protein reduction. For example, people can lower their protein intake by making sandwiches using thinner slices of meat and adding lettuce, cucumber slices, apple slices, and other garnishes. The following table lists some higher-protein foods and suggestions for lower-protein alternatives that are better choices for people with CKD trying to limit their protein intake. + +Higher- and Lower-protein Foods + +Based on about a 3 oz. portion Higher-Protein Foods Lower-protein Alternatives Ground beef Halibut Shrimp Salmon Tuna Chicken breast Roasted chicken Chili con carne Beef stew Egg substitutes Tofu Imitation crab meat + +When kidney function declines to the point where dialysis becomes necessary, patients should include more protein in their diet because dialysis removes large amounts of protein from the blood.",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Everyone should know about fat sources because eating the wrong kinds of fat and too much fat increases the risk of clogged blood vessels and heart problems. Fat provides energy, helps produce hormonelike substances that regulate blood pressure and other heart functions, and carries fat-soluble vitamins. Everyone needs dietary fat, but some fats are healthier than others. People with CKD are at higher risk of having a heart attack or stroke. Therefore, people with CKD should be especially careful about how dietary fat affects their heart health. + +People with advanced CKD should talk with a dietitian about healthy and unhealthy sources of fat. Saturated fats and trans-fatty acids can raise blood cholesterol levels and clog blood vessels. Saturated fats are found in animal products such as red meat, poultry, whole milk, and butter. These fats are usually solid at room temperature. Trans-fatty acids are often found in commercially baked goods such as cookies and cakes and in fried foods like doughnuts and french fries. + +A dietitian can suggest healthy ways to include fat in the diet, especially if more calories are needed. Vegetable oils such as corn or safflower oil are healthier than animal fats such as butter or lard. Hydrogenated vegetable oils should be avoided because they are high in trans-fatty acids. Monounsaturated fatsolive, peanut, and canola oilsare healthy alternatives to animal fats. The table below shows the sources of fats, broken down into three types of fats that should be eaten less often and good fats that can be eaten more often. + +Sources of Fats + +Eat Less Often Eat More Often Saturated fats - red meat - poultry - whole milk - butter - lard Monounsaturated fats - corn oil - safflower oil - olive oil - peanut oil - canola oil Trans-fatty acids - commercial baked goods - french fries - doughnuts Hydrogenated vegetable oils - margarine - shortening",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Too much sodium in a person's diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies. The extra fluid raises blood pressure and puts a strain on the heart and kidneys. A dietitian can help people find ways to reduce the amount of sodium in their diet. Nutrition labels provide information about the sodium content in food. The U.S. Food and Drug Administration advises that healthy people should limit their daily sodium intake to no more than 2,300 milligrams (mg), the amount found in 1 teaspoon of table salt. People who are at risk for a heart attack or stroke because of a condition such as high blood pressure or kidney disease should limit their daily sodium intake to no more than 1,500 mg. Choosing sodium-free or low-sodium food products will help them reach that goal. + +Sodium is found in ordinary table salt and many salty seasonings such as soy sauce and teriyaki sauce. Canned foods, some frozen foods, and most processed meats have large amounts of salt. Snack foods such as chips and crackers are also high in salt. + +Alternative seasonings such as lemon juice, salt-free seasoning mixes, and hot pepper sauce can help people reduce their salt intake. People with advanced CKD should avoid salt substitutes that use potassium, such as AlsoSalt or Nu-Salt, because CKD limits the body's ability to eliminate potassium from the blood. The table below provides some high-sodium foods and suggestions for low-sodium alternatives that are healthier for people with any level of CKD who have high blood pressure. + +High- and Low-sodium Foods + +High-sodium Foods Low-sodium Alternatives Salt Regular canned vegetables Hot dogs and canned meat Packaged rice with sauce Packaged noodles with sauce Frozen vegetables with sauce Frozen prepared meals Canned soup Regular tomato sauce Snack foods Salt-free herb seasonings Low-sodium canned foods Frozen vegetables without sauce Fresh, cooked meat Plain rice without sauce Plain noodles without sauce Fresh vegetables without sauce Homemade soup with fresh ingredients Reduced-sodium tomato sauce Unsalted pretzels Unsalted popcorn",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Keeping the proper level of potassium in the blood is essential. Potassium keeps the heart beating regularly and muscles working right. Problems can occur when blood potassium levels are either too low or too high. Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons. People with advanced CKD may need to avoid some fruits and vegetables. Blood tests can indicate when potassium levels have climbed above normal range. A renal dietitian can help people with advanced CKD find ways to limit the amount of potassium they eat. The potassium content of potatoes and other vegetables can be reduced by boiling them in water. The following table gives examples of some high-potassium foods and suggestions for low-potassium alternatives for people with advanced CKD. + +High- and Low-potassium Foods + +High-potassium Foods Low-potassium Alternatives Oranges and orange juice Melons Apricots Bananas Potatoes Tomatoes Sweet potatoes Cooked spinach Cooked broccoli Beans (baked, kidney, lima, pinto) Apples and apple juice Cranberries and cranberry juice Canned pears Strawberries, blueberries, raspberries Plums Pineapple Cabbage Boiled Cauliflower",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"Damaged kidneys allow phosphorus, a mineral found in many foods, to build up in the blood. Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break. Too much phosphorus may also make skin itch. Foods such as milk and cheese, dried beans, peas, colas, canned iced teas and lemonade, nuts, and peanut butter are high in phosphorus. A renal dietitian can help people with advanced CKD learn how to limit phosphorus in their diet. + +As CKD progresses, a person may need to take a phosphate binder such as sevelamer hydrochloride (Renagel), lanthanum carbonate (Fosrenol), calcium acetate (PhosLo), or calcium carbonate (Tums) to control the phosphorus in the blood. These medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Because it is bound, the phosphorus does not get into the blood. Instead, it is removed from the body in the stool. + +The table below lists some high-phosphorus foods and suggestions for low-phosphorus alternatives that are healthier for people with advanced CKD. + +High- and Low-phosphorus Foods + +High-phosphorus Foods Low-phosphorus Alternatives Dairy foods (milk, cheese, yogurt) Beans (baked, kidney, lima, pinto) Nuts and peanut butter Processed meats (hot dogs, canned meat) Cola Canned iced teas and lemonade Bran cereals Egg yolks Liquid non-dairy creamer Sherbet Cooked rice Rice, wheat, and corn cereals Popcorn Peas Lemon-lime soda Root beer Powdered iced tea and lemonade mixes",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What to do for Nutrition for Advanced Chronic Kidney Disease in Adults ?,"- A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus. - The kidneys remove wastes and extra water from the blood and make urine. - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal. - Dietitians who specialize in helping people with CKD are called renal dietitians. - People with advanced CKD often lose their appetites and consume fewer caloriesimportant units of energy in foodand may lose too much weight. - Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute. - People with CKD are at higher risk of having a heart attack or stroke. - Everyone needs dietary fat, but some fats are healthier than others. - Too much sodium in a persons diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies. - People with advanced CKD should avoid salt substitutes that use potassium because CKD limits the bodys ability to eliminate potassium from the blood. - Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons. - Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break. - People with advanced CKD may need to limit how much they drink because damaged kidneys can't remove extra fluid. - Many patients find that keeping track of their test results helps them see how their treatment is working. Patients can ask their health care provider for copies of their lab reports and ask to have them explained, noting any results out of the normal range.",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?,"The NIDDK Nutrition for Chronic Kidney Disease Series includes three fact sheets: + +- Nutrition for Early Chronic Kidney Disease in Adults - Nutrition for Advanced Chronic Kidney Disease in Adults - Nutrition for Chronic Kidney Disease in Children",NIDDK,Nutrition for Advanced Chronic Kidney Disease in Adults +What is (are) Wilson Disease ?,"Wilson disease is a genetic disease that prevents the body from removing extra copper. The body needs a small amount of copper from food to stay healthy; however, too much copper is poisonous. Normally, the liver filters extra copper and releases it into bile. Bile is a fluid made by the liver that carries toxins and wastes out of the body through the gastrointestinal tract. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ damage.",NIDDK,Wilson Disease +What is (are) Wilson Disease ?,"The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many important functions, including + +- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed. - making new proteins, such as clotting factors and immune factors. - producing bile. In addition to carrying toxins and waste products out of the body, bile helps the body digest fats and the fat-soluble vitamins A, D, E, and K. - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications. + +A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete and the liver creates scar tissue.",NIDDK,Wilson Disease +What causes Wilson Disease ?,"Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disease, although the child may inherit one copy of the gene mutation. The child is called a carrier of the disease and can pass the gene mutation to the next generation. Genetic testing is a procedure that identifies changes in a patients genes and can show whether a parent or child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in every generation of an affected family. + +The following chart shows the chance of inheriting an autosomal recessive mutation from parents who both carry the mutated gene. + + + +Genetic Diseases Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly. Not all gene mutations cause a disease. People have two copies of most genes; they inherit one copy from each parent. A genetic disease occurs when one or both parents pass a mutated gene to a child at conception. A genetic disease can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred in a person, that person can pass the gene mutation on to a child. Read more about genes and genetic conditions in the U.S. National Library of Medicines Genetics Home Reference at www.ghr.nlm.nih.gov.",NIDDK,Wilson Disease +What are the symptoms of Wilson Disease ?,"The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. Wilson disease is present at birth; however, the signs and symptoms of the disease do not appear until the copper builds up in the liver, the brain, or other organs. + +When people have signs and symptoms, they usually affect the liver, the central nervous system, or both. The central nervous system includes the brain, the spinal cord, and nerves throughout the body. Sometimes a person does not have symptoms and a health care provider discovers the disease during a routine physical exam or blood test, or during an illness. Children can have Wilson disease for several years before any signs and symptoms occur. People with Wilson disease may have + +- liver-related signs and symptoms - central nervous system-related signs and symptoms - mental health-related signs and symptoms - other signs and symptoms + +Liver-related Signs and Symptoms + +People with Wilson disease may develop signs and symptoms of chronic, or long lasting, liver disease: + +- weakness - fatigue, or feeling tired - loss of appetite - nausea - vomiting - weight loss - pain and bloating from fluid accumulating in the abdomen - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - itching - spiderlike blood vessels, called spider angiomas, near the surface of the skin - muscle cramps - jaundice, a condition that causes the skin and whites of the eyes to turn yellow + +Some people with Wilson disease may not develop signs or symptoms of liver disease until they develop acute liver failurea condition that develops suddenly. + +Central Nervous System-related Signs and Symptoms + +Central nervous system-related symptoms usually appear in people after the liver has retained a lot of copper; however, signs and symptoms of liver disease may not be present. Central nervous system-related symptoms occur most often in adults and sometimes occur in children.1 Signs and symptoms include + +- tremors or uncontrolled movements - muscle stiffness - problems with speech, swallowing, or physical coordination + +A health care provider may refer people with these symptoms to a neurologista doctor who specializes in nervous system diseases. + +Mental Health-related Signs and Symptoms + +Some people will have mental health-related signs and symptoms when copper builds up in the central nervous system. Signs and symptoms may include + +- personality changes - depression - feeling anxious, or nervous, about most things - psychosiswhen a person loses contact with reality + +Other Signs and Symptoms + +Other signs and symptoms of Wilson disease may include + +- anemia, a condition in which red blood cells are fewer or smaller than normal, which prevents the bodys cells from getting enough oxygen - arthritis, a condition in which a person has pain and swelling in one or more joints - high levels of amino acids, protein, uric acid, and carbohydrates in urine - low platelet or white blood cell count - osteoporosis, a condition in which the bones become less dense and more likely to fracture",NIDDK,Wilson Disease +What are the complications of Wilson Disease ?,"People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as + +- cirrhosisscarring of the liver - kidney damageas liver function decreases, the kidneys may be damaged - persistent nervous system problems when nervous system symptoms do not resolve - liver cancerhepatocellular carcinoma is a type of liver cancer that can occur in people with cirrhosis - liver failurea condition in which the liver stops working properly - death, if left untreated",NIDDK,Wilson Disease +How to diagnose Wilson Disease ?,"A health care provider may use several tests and exams to diagnose Wilson disease, including the following: + +- medical and family history - physical exam - blood tests - urine tests - liver biopsy - imaging tests + +Health care providers typically see the same symptoms of Wilson disease in other conditions, and the symptoms of Wilson disease do not occur together often, making the disease difficult to diagnose. + +Medical and Family History + +A health care provider may take a medical and family history to help diagnose Wilson disease. + +Physical Exam + +A physical exam may help diagnose Wilson disease. During a physical exam, a health care provider usually + +- examines a patients body - uses a stethoscope to listen to sounds related to the abdomen + +A health care provider will use a special light called a slit lamp to look for Kayser-Fleischer rings in the eyes. + +Blood Tests + +A nurse or technician will draw blood samples at a health care providers office or a commercial facility and send the samples to a lab for analysis. A health care provider may + +- perform liver enzyme or function testsblood tests that may indicate liver abnormalities. - check copper levels in the blood. Since the copper is deposited into the organs and is not circulating in the blood, most people with Wilson disease have a lower-than-normal level of copper in the blood. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal. - check the level of ceruloplasmina protein that carries copper in the bloodstream. Most people with Wilson disease have a lower-than-normal ceruloplasmin level. - conduct genetic testing. A health care provider may recommend genetic testing in cases of a known family history of Wilson disease. + +Urine Tests + +24-hour urine collection. A patient will collect urine at home in a special container provided by a health care providers office or a commercial facility. A health care provider sends the sample to a lab for analysis. A 24-hour urine collection will show increased copper in the urine in most patients who have symptoms due to Wilson disease. + +Liver Biopsy + +A liver biopsy is a procedure that involves taking a small piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. He or she may also ask the patient to fasteat or drink nothingfor 8 hours before the procedure. + +During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses the needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. + +A pathologista doctor who specializes in diagnosing diseasesexamines the liver tissue in a lab. The test can show cirrhosis of the liver. Sometimes the liver biopsy will show copper buildup in the liver cells; however, the results can vary because the copper does not always deposit evenly into the liver. Therefore, health care providers often find it more useful to analyze a piece of liver tissue for copper content. Most patients with Wilson disease have high levels of copper in the liver tissue when compared with carriers or with people who do not have Wilson disease. + +More information is provided in the NIDDK health topic, Liver Biopsy. + +Imaging Tests + +A health care provider may order imaging tests to evaluate brain abnormalities in patients who have nervous system symptoms often seen with Wilson disease, or in patients diagnosed with Wilson disease. Health care providers do not use brain imaging tests to diagnose Wilson disease, though certain findings may suggest the patient has the disease. + +Magnetic resonance imaging (MRI). An MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include the injection of a special dye, called contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the patient to lie in a more open space. The technician will take a sequence of images from different angles to create a detailed picture of the brain. During sequencing, the patient will hear loud mechanical knocking and humming noises. MRI can show if other diseases or conditions are causing the patients neurological symptoms. + +Computerized tomography (CT) scan. A CT scan uses a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital. A radiologist interprets the images. The patient does not need anesthesia. A CT scan can show if other diseases or conditions are causing the patients neurological symptoms.",NIDDK,Wilson Disease +What are the treatments for Wilson Disease ?,"A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include + +- medications - changes in eating, diet, and nutrition - a liver transplant + +Medications + +A health care provider will prescribe medications to treat Wilson disease. The medications have different actions that health care providers use during different phases of the treatment. + +Chelating agents. Chelating agents are medications that remove extra copper from the body by releasing it from organs into the bloodstream. Once the cooper is in the bloodstream, the kidneys then filter the copper and pass it into the urine. A health care provider usually recommends chelating agents at the beginning of treatment. A potential side effect of chelating agents is that nervous system symptoms may become worse during treatment. The two medications available for this type of treatment include + +- trientine (Syprine)the risk for side effects and worsening nervous system symptoms appears to be lower with trientine than d-penicillamine. Researchers are still studying the side effects; however, some health care providers prefer to prescribe trientine as the first treatment of choice because it appears to be safer. - d-penicillaminepeople taking d-penicillamine may have other reactions or side effects, such as - fever - a rash - kidney problems - bone marrow problems + +A health care provider will prescribe a lower dose of a chelating agent to women who are pregnant to reduce the risk of birth defects. A health care provider should consider future screening on any newborn whose parent has Wilson disease. + +Zinc. A health care provider will prescribe zinc for patients who do not have symptoms, or after a person has completed successful treatment using a chelating agent and symptoms begin to improve. Zinc, taken by mouth as zinc salts such as zinc acetate (Galzin), blocks the digestive tracts absorption of copper from food. Although most people taking zinc usually do not experience side effects, some people may experience stomach upset. A health care provider may prescribe zinc for children with Wilson disease who show no symptoms. Women may take the full dosage of zinc safely during pregnancy. + +Maintenance, or long term, treatment begins when symptoms improve and tests show that copper is at a safe level. Maintenance treatment typically includes taking zinc or a lower dose of a chelating agent. A health care provider closely monitors the person and reviews regular blood and urine tests to ensure maintenance treatment controls the copper level in the body. + +Treatment for people with Wilson disease who have no symptoms may include a chelating agent or zinc in order to prevent symptoms from developing and stop or slow disease progression. + +People with Wilson disease will take medications for the rest of their lives. Follow-up and adherence to the health care providers treatment plan is necessary to manage symptoms and prevent organ damage.",NIDDK,Wilson Disease +What to do for Wilson Disease ?,"People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as + +- shellfish - liver - mushrooms - nuts - chocolate + +People should not eat these foods during the initial treatment and talk with the health care provider to discuss if they are safe to eat in moderation during maintenance treatment. + +People with Wilson disease whose tap water runs through copper pipes or comes from a well should check the copper levels in the tap water. Water that sits in copper pipes may pick up copper residue, but running water lowers the level to within acceptable limits. People with Wilson disease should not use copper containers or cookware to store or prepare food or drinks. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of vitamins and dietary supplements, with their health care provider. Read more at www.nccam. nih.gov/health. If the health care provider recommends taking any type of supplement or vitamin, a pharmacist can recommend types that do not contain copper. + +People should talk with a health care provider about diet changes to reduce copper intake. + +Liver Transplant + +A liver transplant may be necessary in people when + +- cirrhosis leads to liver failure - acute liver failure happens suddenly - treatment is not effective + +A liver transplant is an operation to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A successful transplant is a life-saving treatment for people with liver failure. + +Most liver transplants are successful. About 85 percent of transplanted livers are functioning after 1 year.2 Liver transplant surgery provides a cure for Wilson disease in most cases. More information is provided in the NIDDK health topic, Liver Transplantation.",NIDDK,Wilson Disease +How to prevent Wilson Disease ?,"A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing. A health care provider may be able to diagnose Wilson disease before symptoms appear. Early diagnosis and treatment of Wilson disease can reduce or even prevent organ damage. + +People with a family history of the disease may also benefit from genetic testing that can identify one or more gene mutations. A health care provider may refer a person with a family history of Wilson disease to a geneticista doctor who specializes in genetic diseases.",NIDDK,Wilson Disease +What to do for Wilson Disease ?,"- Wilson disease is a genetic disease that prevents the body from removing extra copper. - Normally, the liver filters extra copper and releases it into bile. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs. - Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. - The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. People with Wilson disease may have - liver-related signs and symptoms - central nervous system-related signs and symptoms - mental health-related signs and symptoms - other signs and symptoms - A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include - medications - changes in eating, diet, and nutrition - a liver transplant - People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as - shellfish - liver - mushrooms - nuts - chocolate - A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing.",NIDDK,Wilson Disease +What is (are) Crohn's Disease ?,"Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. Most commonly, Crohn's affects the small intestine and the beginning of the large intestine. However, the disease can affect any part of the GI tract, from the mouth to the anus. + +Crohn's disease is a chronic inflammatory disease of the GI tract, called inflammatory bowel disease (IBD). Ulcerative colitis and microscopic colitis are the other common IBDs. More information is provided in the NIDDK health topics, Ulcerative Colitis and Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis. + +Crohn's disease most often begins gradually and can become worse over time. Most people have periods of remissiontimes when symptoms disappearthat can last for weeks or years. + +Some people with Crohn's disease receive care from a gastroenterologist, a doctor who specializes in digestive diseases.",NIDDK,Crohn's Disease +What is (are) Crohn's Disease ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The intestines are sometimes called the bowel.",NIDDK,Crohn's Disease +What causes Crohn's Disease ?,"The exact cause of Crohn's disease is unknown. Researchers believe the following factors may play a role in causing Crohn's disease: + +- autoimmune reaction - genes - environment + +Autoimmune reaction. Scientists believe one cause of Crohn's disease may be an autoimmune reactionwhen a person's immune system attacks healthy cells in the body by mistake. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Researchers believe bacteria or viruses can mistakenly trigger the immune system to attack the inner lining of the intestines. This immune system response causes the inflammation, leading to symptoms. + +Genes. Crohn's disease sometimes runs in families. Research has shown that people who have a parent or sibling with Crohn's disease may be more likely to develop the disease. Researchers continue to study the link between genes and Crohn's disease. + +Environment. Some studies suggest that certain things in the environment may increase the chance of a person getting Crohn's disease, although the overall chance is low. Nonsteroidal anti-inflammatory drugs,1 antibiotics,2 and oral contraceptives2 may slightly increase the chance of developing Crohn's disease. A high-fat diet may also slightly increase the chance of getting Crohn's disease.3 + +Some people incorrectly believe that eating certain foods, stress, or emotional distress can cause Crohn's disease. Emotional distress and eating certain foods do not cause Crohn's disease. Sometimes the stress of living with Crohn's disease can make symptoms worse. Also, some people may find that certain foods can trigger or worsen their symptoms.",NIDDK,Crohn's Disease +What are the symptoms of Crohn's Disease ?,"The most common signs and symptoms of Crohn's disease are + +- diarrhea - abdominal cramping and pain - weight loss + +Other general signs and symptoms include + +- feeling tired - nausea or loss of appetite - fever - anemiaa condition in which the body has fewer red blood cells than normal + +Signs and symptoms of inflammation outside of the intestines include + +- joint pain or soreness - eye irritation - skin changes that involve red, tender bumps under the skin + +The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs.",NIDDK,Crohn's Disease +How to diagnose Crohn's Disease ?,"A health care provider diagnoses Crohn's disease with the following: + +- medical and family history - physical exam - lab tests - upper GI series - computerized tomography (CT) scan - intestinal endoscopy + +The health care provider may perform a series of medical tests to rule out other bowel diseases, such as irritable bowel syndrome, ulcerative colitis, or celiac disease, that cause symptoms similar to those of Crohn's disease. + +Medical and Family History + +Taking a medical and family history can help a health care provider diagnose Crohn's disease and understand a patient's symptoms. He or she will ask the patient to describe his or her + +- family history - symptoms - current and past medical conditions - current medications + +Physical Exam + +A physical exam may help diagnose Crohn's disease. During a physical exam, the health care provider most often + +- checks for abdominal distension, or swelling - listens to sounds within the abdomen using a stethoscope - taps on the abdomen to check for tenderness and pain and establish if the liver or spleen is abnormal or enlarged + +Lab Tests + +A health care provider may order lab tests, including blood and stool tests. + +Blood tests. A blood test involves drawing blood at a health care provider's office or a lab. A lab technologist will analyze the blood sample. A health care provider may use blood tests to look for changes in + +- red blood cells. When red blood cells are fewer or smaller than normal, a patient may have anemia. - white blood cells. When the white blood cell count is higher than normal, a person may have inflammation or infection somewhere in his or her body. + +Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool at home. The patient returns the sample to the health care provider or to a lab. A lab technologist will analyze the stool sample. Health care providers commonly order stool tests to rule out other causes of GI diseases. + +Upper Gastrointestinal Series + +An upper GI series, also called a barium swallow, uses x-rays and fluoroscopy to help diagnose problems of the upper GI tract. Fluoroscopy is a form of x-ray that makes it possible to see the internal organs and their motion on a video monitor. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. + +This test does not require anesthesia. A patient should not eat or drink before the procedure, as directed by the health care provider. Patients should ask their health care provider about how to prepare for an upper GI series. + +During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and a health care provider can see the shape of these organs more clearly on x-rays. + +A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. + +Computerized Tomography Scan + +Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x-rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. CT scans can diagnose both Crohn's disease and the complications seen with the disease. + +Intestinal Endoscopy + +Intestinal endoscopies are the most accurate methods for diagnosing Crohn's disease and ruling out other possible conditions, such as ulcerative colitis, diverticular disease, or cancer. Intestinal endoscopies include + +- upper GI endoscopy and enteroscopy - capsule endoscopy - colonoscopy + +Upper GI endoscopy and enteroscopy. An upper GI endoscopy is a procedure that uses an endoscopea small, flexible tube with a lightto directly visualize the lining of the upper GI tract. A health care provider performs the procedure at a hospital or an outpatient center. A nurse or technician may give the patient a liquid anesthetic to gargle or will spray the anesthetic on the back of a patient's throat. The anesthetic numbs the throat and calms the gag reflex. The nurse or technician will then place an intravenous (IV) needle in the person's arm or hand to provide a sedative. The health care provider carefully feeds the endoscope down the patient's esophagus and into the stomach. A small camera on the endoscope sends a video image to a monitor, allowing close examination of the GI tract. + +During an enteroscopy, the health care provider examines the small intestine with a special, longer endoscope. The health care provider carefully feeds the endoscope into the small intestine using one of the following procedures: + +- push enteroscopy, which uses a long endoscope to examine the upper portion of the small intestine - single- or double-balloon enteroscopy, which use small balloons to help move the endoscope into the small intestine - spiral enteroscopy, which uses a tube attached to an endocope that acts as a cork screw to move the instrument into the small intestine + +The procedure most often takes between 15 and 60 minutes. The endoscope does not interfere with the patient's breathing, and many patients fall asleep during the procedure. + +Capsule endoscopy. Although this procedure can examine the entire digestive tract, health care providers use it mostly to examine the small intestine. The patient swallows a capsule containing a tiny camera. As the capsule passes through the GI tract, the camera will record and transmit images to a small receiver device worn by the patient. When the recording is done, the health care provider downloads the images and reviews them on a video monitor. The camera capsule leaves the patient's body during a bowel movement and is safely flushed down the toilet. + +Colonoscopy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside a patient's rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patient's vital signs and try to make him or her as comfortable as possible. A nurse or technician will place an IV needle in a vein in the patient's arm or hand to give anesthesia. + +For the test, the patient will lie on a table or stretcher while the gastroenterologist inserts a colonoscope into the patient's anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the gastroenterologist to examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again. + +A colonoscopy can show inflamed and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the inner lining of the intestine. If the gastroenterologist suspects Crohn's disease, he or she will biopsy the patient's colon and rectum. A biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. + +A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure.",NIDDK,Crohn's Disease +What are the treatments for Crohn's Disease ?,"A health care provider treats Crohn's disease with + +- medications - bowel rest - surgery + +Which treatment a person needs depends on the severity of the disease and symptoms. Each person experiences Crohn's disease differently, so health care providers adjust treatments to improve the person's symptoms and induce, or bring about, remission. + +Medications + +While no medication cures Crohn's disease, many can reduce symptoms. The goals of medication therapy are + +- inducing and maintaining remission - improving the person's quality of life + +Many people with Crohn's disease require medication therapy. Health care providers will prescribe medications depending on the person's symptoms: + +- aminosalicylates - corticosteroids - immunomodulators - biologic therapies - other medications + +Aminosalicylates are medications that contain 5-aminosalicyclic acid (5-ASA), which helps control inflammation. Health care providers use aminosalicylates to treat people newly diagnosed with Crohn's disease who have mild symptoms. Aminosalicylates include + +- balsalazide - mesalamine - olsalazine - sulfasalazinea combination of sulfapyridine and 5-ASA + +Some of the common side effects of aminosalicylates include + +- abdominal pain - diarrhea - headaches - heartburn - nausea and vomiting + +Corticosteroids, also known as steroids, help reduce the activity of the immune system and decrease inflammation. Health care providers prescribe corticosteroids for people with moderate to severe symptoms. Corticosteroids include + +- budesonide - hydrocortisone - methylprednisone - prednisone + +Side effects of corticosteroids include + +- acne - a higher chance of developing infections - bone mass loss - high blood glucose - high blood pressure - mood swings - weight gain + +In most cases, health care providers do not prescribe corticosteroids for long-term use. + +Immunomodulators reduce immune system activity, resulting in less inflammation in the GI tract. These medications can take several weeks to 3 months to start working. Immunomodulators include + +- 6-mercaptopurine, or 6-MP - azathioprine - cyclosporine - methotrexate + +Health care providers prescribe these medications to help people with Crohn's disease go into remission or to help people who do not respond to other treatments. People taking these medications may have the following side effects: + +- a low white blood cell count, which can lead to a higher chance of infection - fatigue, or feeling tired - nausea and vomiting - pancreatitis + +Health care providers most often prescribe cyclosporine only to people with severe Crohn's disease because of the medication's serious side effects. People should talk with their health care provider about the risks and benefits of cyclosporine. + +Biologic therapies are medications that target a protein made by the immune system. Neutralizing this protein decreases inflammation in the intestine. Biologic therapies work quickly to bring on remission, especially in people who do not respond to other medications. Biologic therapies include + +- adalimumab - certolizumab - infliximab - natalizumab - vedolizumab + +Health care providers most often give patients infliximab every 6 to 8 weeks at a hospital or an outpatient center. Side effects may include a toxic reaction to the medication and a higher chance of developing infections, particularly tuberculosis. + +Other medications to treat symptoms or complications may include + +- acetaminophen for mild pain. People with Crohn's disease should avoid using ibuprofen, naproxen, and aspirin since these medications can make symptoms worse. - antibiotics to prevent or treat infections and fistulas. - loperamide to help slow or stop severe diarrhea. In most cases, people only take this medication for short periods of time since it can increase the chance of developing megacolon. + +Bowel Rest + +Sometimes Crohn's disease symptoms are severe and a person may need to rest his or her bowel for a few days to several weeks. Bowel rest involves drinking only clear liquids or having no oral intake. To provide the patient with nutrition, a health care provider will deliver IV nutrition through a special catheter, or tube, inserted into a vein in the patient's arm. Some patients stay in the hospital, while other patients are able to receive the treatment at home. In most cases, the intestines are able to heal during bowel rest. + +Surgery + +Even with medication treatments, up to 20 percent of people will need surgery to treat their Crohn's disease.1 Although surgery will not cure Crohn's disease, it can treat complications and improve symptoms. Health care providers most often recommend surgery to treat + +- fistulas - bleeding that is life threatening - bowel obstructions - side effects from medications when they threaten a person's health - symptoms when medications do not improve a person's condition + +A surgeon can perform different types of operations to treat Crohn's disease: + +- small bowel resection - subtotal colectomy - proctocolectomy and ileostomy + +Patients will receive general anesthesia. Most patients will stay in the hospital for 3 to 7 days after the surgery. Full recovery may take 4 to 6 weeks. + +Small bowel resection. Small bowel resection is surgery to remove part of a patient's small intestine. When a patient with Crohn's disease has a blockage or severe disease in the small intestine, a surgeon may need to remove that section of intestine. The two types of small bowel resection are + +- laparoscopicwhen a surgeon makes several small, half-inch incisions in the patient's abdomen. The surgeon inserts a laparoscopea thin tube with a tiny light and video camera on the endthrough the small incisions. The camera sends a magnified image from inside the body to a video monitor, giving the surgeon a close-up view of the small intestine. While watching the monitor, the surgeon inserts tools through the small incisions and removes the diseased or blocked section of small intestine. The surgeon will reconnect the ends of the intestine. - open surgerywhen a surgeon makes one incision about 6 inches long in the patient's abdomen. The surgeon will locate the diseased or blocked section of small intestine and remove or repair that section. The surgeon will reconnect the ends of the intestine. + +Subtotal colectomy. A subtotal colectomy, also called a large bowel resection, is surgery to remove part of a patient's large intestine. When a patient with Crohn's disease has a blockage, a fistula, or severe disease in the large intestine, a surgeon may need to remove that section of intestine. A surgeon can perform a subtotal colectomy by + +- laparoscopic colectomywhen a surgeon makes several small, half-inch incisions in the abdomen. While watching the monitor, the surgeon removes the diseased or blocked section of the large intestine. The surgeon will reconnect the ends of the intestine. - open surgerywhen a surgeon makes one incision about 6 to 8 inches long in the abdomen. The surgeon will locate the diseased or blocked section of small intestine and remove that section. The surgeon will reconnect the ends of the intestine. + +Proctocolectomy and ileostomy. A proctocolectomy is surgery to remove a patient's entire colon and rectum. An ileostomy is a stoma, or opening in the abdomen, that a surgeon creates from a part of the ileumthe last section of the small intestine. The surgeon brings the end of the ileum through an opening in the patient's abdomen and attaches it to the skin, creating an opening outside of the patient's body. The stoma is about three-fourths of an inch to a little less than 2 inches wide and is most often located in the lower part of the patient's abdomen, just below the beltline. + +A removable external collection pouch, called an ostomy pouch or ostomy appliance, connects to the stoma and collects intestinal contents outside the patient's body. Intestinal contents pass through the stoma instead of passing through the anus. The stoma has no muscle, so it cannot control the flow of intestinal contents, and the flow occurs whenever peristalsis occurs. Peristalsis is the movement of the organ walls that propels food and liquid through the GI tract. + +People who have this type of surgery will have the ileostomy for the rest of their lives.",NIDDK,Crohn's Disease +What to do for Crohn's Disease ?,"Researchers have not found that eating, diet, and nutrition cause Crohn's disease symptoms. Good nutrition is important in the management of Crohn's disease, however. Dietary changes can help reduce symptoms. A health care provider may recommend that a person make dietary changes such as + +- avoiding carbonated drinks - avoiding popcorn, vegetable skins, nuts, and other high-fiber foods - drinking more liquids - eating smaller meals more often - keeping a food diary to help identify troublesome foods + +Health care providers may recommend nutritional supplements and vitamins for people who do not absorb enough nutrients. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics. + +Depending on a person's symptoms or medications, a health care provider may recommend a specific diet, such as a + +- high-calorie diet - lactose-free diet - low-fat diet - low-fiber diet - low-salt diet + +People should speak with a health care provider about specific dietary recommendations and changes.",NIDDK,Crohn's Disease +What are the complications of Crohn's Disease ?,"Complications of Crohn's disease can include + +- bowel obstruction. Crohn's disease can thicken the wall of the intestine. Over time, the thickened areas of the intestine can narrow, which can block the intestine. A partial or complete obstruction, also called a bowel blockage, can block the movement of food or stool through the intestines. A complete bowel obstruction is life threatening and requires immediate medical attention and often surgery. - fistulasabnormal passages, or tunnels, between two organs, or between an organ and the outside of the body. How a health care provider treats fistulas depends on their type and severity. For some people, fistulas heal with medication and diet changes, while other people will need to have surgery. - anal fissuressmall tears in the anus that may cause itching, pain, or bleeding. Most anal fissures heal with medical treatment, including ointments, warm baths, and dietary changes. - ulcers. Inflammation anywhere along the GI tract can lead to ulcers or open sores in a person's mouth, intestines, anus, and perineumthe area between the anus and the sex organs. In most cases, the treatment a health care provider prescribes for Crohn's disease will also treat the ulcers. - malnutritiona condition that develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Some people may need IV fluids or feeding tubes to replace lost nutrients and fluids. - inflammation in other areas of the body. The immune system can trigger inflammation in the - joints - eyes - skin + +Health care providers can treat inflammation by adjusting medications or prescribing new medications. + + + +Crohn's Disease and Colon Cancer People with Crohn's disease in the large intestine may be more likely to develop colon cancer. People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer. People with Crohn's disease should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies. Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery.",NIDDK,Crohn's Disease +What to do for Crohn's Disease ?,"- Crohn's disease is a chronic, or long lasting, disease that causes inflammationirritation or swellingin the gastrointestinal (GI) tract. - The exact cause of Crohn's disease is unknown. Researchers believe that factors such as an autoimmune reaction, genes, and environment may play a role in causing Crohn's disease. - Crohn's disease can occur in people of any age. However, it is more likely to develop in people - between the ages of 20 and 29 - who have a family member, most often a sibling or parent, with inflammatory bowel disease (IBD) - who smoke cigarettes - The most common signs and symptoms of Crohn's disease are diarrhea, abdominal cramping and pain, and weight loss. - A health care provider diagnoses Crohn's disease with the following: - medical and family history - physical exam - lab tests - upper GI series - computerized tomography (CT) scan - intestinal endoscopy - Which treatment a person needs depends on the severity of the disease and symptoms. - Good nutrition is important in the management of Crohn's disease. A health care provider may recommend that a person make dietary changes. - People with Crohn's disease should talk with their health care provider about how often they should get screened for colon cancer.",NIDDK,Crohn's Disease +What is (are) What I need to know about Kidney Stones ?,"A kidney* stone is a solid piece of material that forms in a kidney when there are high levels of certain substances in the urine. These substances are normally found in the urine and do not cause problems at lower levels. + +A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone may get stuck along the urinary tract. A stone that gets stuck can block the flow of urine, causing severe pain or bleeding. + +*See the Pronunciation Guide for tips on how to say the words in bold.",NIDDK,What I need to know about Kidney Stones +What is (are) What I need to know about Kidney Stones ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. + +The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.",NIDDK,What I need to know about Kidney Stones +What causes What I need to know about Kidney Stones ?,"Kidney stones are caused by high levels of calcium, oxalate, and phosphorus in the urine. Some foods may cause kidney stones in certain people. You may be more likely to get a kidney stone if you have + +- a condition that affects levels of substances in your urine that can cause stones to form - a family history of kidney stones - repeating, or recurrent, urinary tract infections - blockage of your urinary tract - digestive problems + +You may also be more likely to get a kidney stone if you dont drink enough fluids or if you take certain medicines.",NIDDK,What I need to know about Kidney Stones +What is (are) What I need to know about Kidney Stones ?,"Doctors have found four main types of kidney stones: + +- The most common types of stones contain calcium. Calcium is a normal part of a healthy diet. Calcium that is not used by the bones and muscles goes to the kidneys. In most people, the kidneys flush out the extra calcium with the rest of the urine. People who have calcium stones keep the calcium in their kidneys. The calcium that stays behind joins with other waste products to form a stone. People can have calcium oxalate and calcium phosphate stones. Calcium oxalate stones are more common. - A uric acid stone may form when the urine contains too much acid. People who eat a lot of meat, fish, and shellfish may get uric acid stones. - A struvite stone may form after you have a kidney infection. - Cystine stones result from a genetic disorder, meaning a problem passed from parent to child. The disorder causes cystine to leak through the kidneys and into the urine.",NIDDK,What I need to know about Kidney Stones +What are the symptoms of What I need to know about Kidney Stones ?,"You may have a kidney stone if you + +- have pain while urinating - see blood in your urine - feel a sharp pain in your back or lower abdomenthe area between your chest and hips + +The pain may last for a short or long time. You may have nausea and vomiting with the pain. + +If you have a small stone that passes on its own easily, you may not have symptoms at all.",NIDDK,What I need to know about Kidney Stones +How to diagnose What I need to know about Kidney Stones ?,"To diagnose kidney stones, your doctor will do a physical exam and ask about your medical history. The doctor may ask if you have a family history of kidney stones and about your diet, digestive problems, and other health problems. The doctor may perform urine, blood, and imaging tests to complete the diagnosis. + +- Urine tests can show whether you have an infection or your urine contains substances that form stones. - Blood tests can show problems that lead to kidney stones. - Imaging tests are used to find the location of kidney stones in your body. The tests may also be able to show problems that caused a kidney stone to form.",NIDDK,What I need to know about Kidney Stones +What are the treatments for What I need to know about Kidney Stones ?,"The treatment for kidney stones usually depends on their size and what they are made of. Kidney stones may be treated by your regular doctor or by a urologista doctor who specializes in the urinary tract. You may need treatment if you have symptoms or if a kidney stone is blocking your urinary tract. Small stones dont usually need treatment. Still, you may need pain medicine. You should also drink lots of fluids to help move the stone along. If you are vomiting often or dont drink enough fluids, you may need to go to the hospital and get fluids through a needle in your arm. + +If you have a large kidney stone or your urinary tract is blocked, the urologist can remove the stone or break it into small pieces with the following treatments:",NIDDK,What I need to know about Kidney Stones +How to prevent What I need to know about Kidney Stones ?,"To prevent kidney stones, you need to know what caused your kidney stone. Your doctor may ask you to try to catch the kidney stone as it passes in your urine. The kidney stone can then be sent to a lab to find out what type of stone it is. If you have treatment in the hospital and the doctor removes the stone, it will also be sent to a lab for testing. + +Your doctor may ask you to collect your urine for 24 hours after the stone has passed or been removed. Your doctor can then measure how much urine you produce in a day and mineral levels in the urine. You are more likely to form stones if you dont make enough urine each day or have a problem with mineral levels. + +Once you know what type of kidney stone you had, you can make changes in your eating, diet, and nutrition and take medicines to prevent future kidney stones.",NIDDK,What I need to know about Kidney Stones +What to do for What I need to know about Kidney Stones ?,"You can help prevent kidney stones by making changes in how much you consume of the following: + +- fluids - sodium - animal protein - calcium - oxalate + +Drinking enough fluids each day is the best way to help prevent most types of kidney stones. You should drink 2 to 3 liters of fluid a day. If you had cystine stones, you may need to drink even more. + +Though water is best, other fluids may also help prevent kidney stones, such as orange juice or lemonade. Talk with your health care provider if you cant drink the recommended amount due to other health problems, such as urinary incontinence, urinary frequency, or kidney failure. + +You can make the following changes to your diet based on the type of kidney stone you had: + +Calcium Oxalate Stones + +- reduce sodium - reduce animal protein, such as meat, eggs, and fish - get enough calcium from food or take calcium supplements with food - avoid foods high in oxalate, such as spinach, rhubarb, nuts, and wheat bran + +Calcium Phosphate Stones + +- reduce sodium - reduce animal protein - get enough calcium from food or take calcium supplements with food + +Uric Acid Stones + +- limit animal protein + +More information about how changes in diet affect kidney stone formation is provided in the NIDDK health topic, Diet for Kidney Stone Prevention. + + + +Medicines + +Your doctor may prescribe medicines based on the type of kidney stone you had and any health problems you have that make you more likely to form a stone.",NIDDK,What I need to know about Kidney Stones +What to do for What I need to know about Kidney Stones ?,"- A kidney stone is a solid piece of material that forms in a kidney when there are high levels of certain substances in the urine. These substances are normally found in the urine and do not cause problems at lower levels. - Kidney stones are caused by high levels of calcium, oxalate, and phosphorus in the urine. - You may have a kidney stone if you - have pain while urinating - see blood in your urine - feel a sharp pain in your back or lower abdomen - If you have a small stone that passes on its own easily, you may not have symptoms at all. - To diagnose kidney stones, your doctor will do a physical exam and ask about your medical history. The doctor may perform urine, blood, and imaging tests to complete the diagnosis. - The treatment for kidney stones usually depends on their size and what they are made of. You may need pain medicine. You should also drink lots of fluids. If you have a large kidney stone or your urinary tract is blocked, the urologist can remove the stone or break it into small pieces with shock wave lithotripsy, ureteroscopy, or percutaneous nephrolithotomy. - To prevent kidney stones, you need to know what caused your kidney stone. - Once you know what type of kidney stone you had, you can make changes in your eating, diet, and nutrition and take medicines to prevent future kidney stones.",NIDDK,What I need to know about Kidney Stones +What is (are) Indigestion ?,"Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. + +Indigestion is common in adults and can occur once in a while or as often as every day.",NIDDK,Indigestion +What causes Indigestion ?,"Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. If the condition improves or resolves, the symptoms of indigestion usually improve. + +Sometimes a person has indigestion for which a cause cannot be found. This type of indigestion, called functional dyspepsia, is thought to occur in the area where the stomach meets the small intestine. The indigestion may be related to abnormal motilitythe squeezing or relaxing actionof the stomach muscle as it receives, digests, and moves food into the small intestine.",NIDDK,Indigestion +What are the symptoms of Indigestion ?,"Most people with indigestion experience more than one of the following symptoms: + +- Fullness during a meal. The person feels overly full soon after the meal starts and cannot finish the meal. - Bothersome fullness after a meal. The person feels overly full after a mealit may feel like the food is staying in the stomach too long. - Epigastric pain. The epigastric area is between the lower end of the chest bone and the navel. The person may experience epigastric pain ranging from mild to severe. - Epigastric burning. The person feels an unpleasant sensation of heat in the epigastric area. + +Other, less frequent symptoms that may occur with indigestion are nausea and bloatingan unpleasant tightness in the stomach. Nausea and bloating could be due to causes other than indigestion. + +Sometimes the term indigestion is used to describe the symptom of heartburn, but these are two different conditions. Heartburn is a painful, burning feeling in the chest that radiates toward the neck or back. Heartburn is caused by stomach acid rising into the esophagus and may be a symptom of GERD. A person can have symptoms of both indigestion and heartburn.",NIDDK,Indigestion +How to diagnose Indigestion ?,"To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine. + +The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer disease is suspected as the cause of indigestion. + +The doctor may perform an upper endoscopy. After giving a sedative to help the person become drowsy, the doctor passes an endoscopea long, thin tube that has a light and small camera on the endthrough the mouth and gently guides it down the esophagus into the stomach. The doctor can look at the esophagus and stomach with the endoscope to check for any abnormalities. The doctor may perform biopsiesremoving small pieces of tissue for examination with a microscopeto look for possible damage from GERD or an infection. + +Because indigestion can be a sign of a more serious condition, people should see a doctor right away if they experience + +- frequent vomiting - blood in vomit - weight loss or loss of appetite - black tarry stools - difficult or painful swallowing - abdominal pain in a nonepigastric area - indigestion accompanied by shortness of breath, sweating, or pain that radiates to the jaw, neck, or arm - symptoms that persist for more than 2 weeks",NIDDK,Indigestion +What are the treatments for Indigestion ?,"Some people may experience relief from symptoms of indigestion by + +- eating several small, low-fat meals throughout the day at a slow pace - refraining from smoking - abstaining from consuming coffee, carbonated beverages, and alcohol - stopping use of medications that may irritate the stomach liningsuch as aspirin or anti-inflammatory drugs - getting enough rest - finding ways to decrease emotional and physical stress, such as relaxation therapy or yoga + +The doctor may recommend over-the-counter antacids or medications that reduce acid production or help the stomach move food more quickly into the small intestine. Many of these medications can be purchased without a prescription. Nonprescription medications should only be used at the dose and for the length of time recommended on the label unless advised differently by a doctor. Informing the doctor when starting a new medication is important. + +Antacids, such as Alka-Seltzer, Maalox, Mylanta, Rolaids, and Riopan, are usually the first drugs recommended to relieve symptoms of indigestion. Many brands on the market use different combinations of three basic saltsmagnesium, calcium, and aluminumwith hydroxide or bicarbonate ions to neutralize the acid in the stomach. Antacids, however, can have side effects. Magnesium salt can lead to diarrhea, and aluminum salt may cause constipation. Aluminum and magnesium salts are often combined in a single product to balance these effects. + +Calcium carbonate antacids, such as Tums, Titralac, and Alka-2, can also be a supplemental source of calcium, though they may cause constipation. + +H2 receptor antagonists (H2RAs) include ranitidine (Zantac), cimetidine (Tagamet), famotidine (Pepcid), and nizatidine (Axid) and are available both by prescription and over-the-counter. H2RAs treat symptoms of indigestion by reducing stomach acid. They work longer than but not as quickly as antacids. Side effects of H2RAs may include headache, nausea, vomiting, constipation, diarrhea, and unusual bleeding or bruising. + +Proton pump inhibitors (PPIs) include omeprazole (Prilosec, Zegerid), lansoprazole (Prevacid), pantoprazole (Protonix), rabeprazole (Aciphex), and esomeprazole (Nexium) and are available by prescription. Prilosec is also available in over-the-counter strength. PPIs, which are stronger than H2RAs, also treat indigestion symptoms by reducing stomach acid. PPIs are most effective in treating symptoms of indigestion in people who also have GERD. Side effects of PPIs may include back pain, aching, cough, headache, dizziness, abdominal pain, gas, nausea, vomiting, constipation, and diarrhea. + +Prokinetics such as metoclopramide (Reglan) may be helpful for people who have a problem with the stomach emptying too slowly. Metoclopramide also improves muscle action in the digestive tract. Prokinetics have frequent side effects that limit their usefulness, including fatigue, sleepiness, depression, anxiety, and involuntary muscle spasms or movements. + +If testing shows the type of bacteria that causes peptic ulcer disease, the doctor may prescribe antibiotics to treat the condition.",NIDDK,Indigestion +What to do for Indigestion ?,"- Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. - Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. - Sometimes a person has indigestion for which a cause cannot be found. This type of indigestion is called functional dyspepsia. - Indigestion and heartburn are different conditions, but a person can have symptoms of both. - The doctor may order x rays; blood, breath, and stool tests; and an upper endoscopy with biopsies to diagnose indigestion. - Some people may experience relief from indigestion by making some lifestyle changes and decreasing stress. - The doctor may prescribe antacids, H2 receptor antagonists (H2RAs), proton pump inhibitors (PPIs), prokinetics, or antibiotics to treat the symptoms of indigestion.",NIDDK,Indigestion +What is (are) Kidney Stones in Adults ?,"A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or bleeding. + +Kidney stones are one of the most common disorders of the urinary tract. Each year in the United States, people make more than a million visits to health care providers and more than 300,000 people go to emergency rooms for kidney stone problems.1 + +Urolithiasis is the medical term used to describe stones occurring in the urinary tract. Other frequently used terms are urinary tract stone disease and nephrolithiasis. Terms that describe the location of the stone in the urinary tract are sometimes used. For example, a ureteral stoneor ureterolithiasisis a kidney stone found in the ureter.",NIDDK,Kidney Stones in Adults +What is (are) Kidney Stones in Adults ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.",NIDDK,Kidney Stones in Adults +Who is at risk for Kidney Stones in Adults? ?,"Anyone can get a kidney stone, but some people are more likely to get one. Men are affected more often than women, and kidney stones are more common in non-Hispanic white people than in non-Hispanic black people and Mexican Americans. Overweight and obese people are more likely to get a kidney stone than people of normal weight. In the United States, 8.8 percent of the population, or one in 11 people, have had a kidney stone.2",NIDDK,Kidney Stones in Adults +What causes Kidney Stones in Adults ?,"Kidney stones can form when substances in the urinesuch as calcium, oxalate, and phosphorusbecome highly concentrated. Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. People who do not drink enough fluids may also be at higher risk, as their urine is more concentrated. + +People who are at increased risk of kidney stones are those with + +- hypercalciuria, a condition that runs in families in which urine contains unusually large amounts of calcium; this is the most common condition found in those who form calcium stones - a family history of kidney stones - cystic kidney diseases, which are disorders that cause fluid-filled sacs to form on the kidneys - hyperparathyroidism, a condition in which the parathyroid glands, which are four pea-sized glands located in the neck, release too much hormone, causing extra calcium in the blood - renal tubular acidosis, a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a persons blood to remain too acidic - cystinuria, a condition in which urine contains high levels of the amino acid cystine - hyperoxaluria, a condition in which urine contains unusually large amounts of oxalate - hyperuricosuria, a disorder of uric acid metabolism - gout, a disorder that causes painful swelling of the joints - blockage of the urinary tract - chronic inflammation of the bowel - a history of gastrointestinal (GI) tract surgery + +Others at increased risk of kidney stones are people taking certain medications including + +- diureticsmedications that help the kidneys remove fluid from the body - calcium-based antacids - the protease inhibitor indinavir (Crixivan), a medication used to treat HIV infection - the anti-seizure medication topiramate (Topamax)",NIDDK,Kidney Stones in Adults +What is (are) Kidney Stones in Adults ?,"Four major types of kidney stones can form: + +- Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. Calcium phosphate stones are caused by the combination of high urine calcium and alkaline urine, meaning the urine has a high pH. - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal protein such as meats, fish, and shellfishmay increase uric acid in urine. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium. - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infection-free can prevent more struvite stones. - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine, forming crystals that tend to accumulate into stones.",NIDDK,Kidney Stones in Adults +What are the symptoms of Kidney Stones in Adults ?,"People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. People may experience nausea and vomiting with the pain. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all.",NIDDK,Kidney Stones in Adults +How to diagnose Kidney Stones in Adults ?,"To diagnose kidney stones, the health care provider will perform a physical exam and take a medical history. The medical history may include questions about family history of kidney stones, diet, GI problems, and other diseases and disorders. The health care provider may perform urine, blood, and imaging tests, such as an x ray or computerized tomography (CT) scan to complete the diagnosis. + +- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. Urinalysis can show whether the person has an infection or the urine contains substances that form stones. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show biochemical problems that can lead to kidney stones. - Abdominal x ray. An abdominal x ray is a picture created using radiation and recorded on film or on a computer. The amount of radiation used is small. An x ray is performed at a hospital or outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The person will lie on a table or stand during the x ray. The x-ray machine is positioned over the abdominal area. The person will hold his or her breath as the picture is taken so that the picture will not be blurry. The person may be asked to change position for additional pictures. The x rays can show the location of stones in the kidney or urinary tract. - CT scans. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. CT scans can show stone locations and conditions that may have caused the stone to form.",NIDDK,Kidney Stones in Adults +What are the treatments for Kidney Stones in Adults ?,"Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Kidney stones may be treated by a general practitioner or by a urologista doctor who specializes in the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, the person may need pain medication and should drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the person becomes dehydrated from vomiting or an inability to drink. A person with a larger stone, or one that blocks urine flow and causes great pain, may need more urgent treatment, such as + +- Shock wave lithotripsy. A machine called a lithotripter is used to crush the kidney stone. The procedure is performed by a urologist on an outpatient basis and anesthesia is used. In shock wave lithotripsy, the person lies on a table or, less commonly, in a tub of water above the lithotripter. The lithotripter generates shock waves that pass through the persons body to break the kidney stone into smaller pieces to pass more readily through the urinary tract. - Ureteroscopy. A ureteroscopea long, tubelike instrument with an eyepieceis used to find and retrieve the stone with a small basket or to break the stone up with laser energy. The procedure is performed by a urologist in a hospital with anesthesia. The urologist inserts the ureteroscope into the persons urethra and slides the scope through the bladder and into the ureter. The urologist removes the stone or, if the stone is large, uses a flexible fiber attached to a laser generator to break the stone into smaller pieces that can pass out of the body in the urine. The person usually goes home the same day. + +- Percutaneous nephrolithotomy. In this procedure, a wire-thin viewing instrument called a nephroscope is used to locate and remove the stone. The procedure is performed by a urologist in a hospital with anesthesia. During the procedure, a tube is inserted directly into the kidney through a small incision in the persons back. For large stones, an ultrasonic probe that acts as a lithotripter may be needed to deliver shock waves that break the stone into small pieces that can be removed more easily. The person may have to stay in the hospital for several days after the procedure and may have a small tube called a nephrostomy tube inserted through the skin into the kidney. The nephrostomy tube drains urine and any residual stone fragments from the kidney into a urine collection bag. The tube is usually left in the kidney for 2 or 3 days while the person remains in the hospital.",NIDDK,Kidney Stones in Adults +How to prevent Kidney Stones in Adults ?,"The first step in preventing kidney stones is to understand what is causing the stones to form. The health care provider may ask the person to try to catch the kidney stone as it passes, so it can be sent to a lab for analysis. Stones that are retrieved surgically can also be sent to a lab for analysis. + +The health care provider may ask the person to collect urine for 24 hours after a stone has passed or been removed to measure daily urine volume and mineral levels. Producing too little urine or having a mineral abnormality can make a person more likely to form stones. Kidney stones may be prevented through changes in eating, diet, and nutrition and medications. + +Eating, Diet, and Nutrition + +People can help prevent kidney stones by making changes in their fluid intake. Depending on the type of kidney stone a person has, changes in the amounts of sodium, animal protein, calcium, and oxalate consumed can also help. + +Drinking enough fluids each day is the best way to help prevent most types of kidney stones. Health care providers recommend that a person drink 2 to 3 liters of fluid a day. People with cystine stones may need to drink even more. Though water is best, other fluids may also help prevent kidney stones, such as orange juice or lemonade. Talk with your health care provider if you cant drink the recommended amount due to other health problems, such as urinary incontinence, urinary frequency, or kidney failure. + +Recommendations based on the specific type of kidney stone include the following: + +Calcium Oxalate Stones + +- reducing sodium - reducing animal protein, such as meat, eggs, and fish - getting enough calcium from food or taking calcium supplements with food - avoiding foods high in oxalate, such as spinach, rhubarb, nuts, and wheat bran + +Calcium Phosphate Stones + +- reducing sodium - reducing animal protein - getting enough calcium from food or taking calcium supplements with food + +Uric Acid Stones + +- limiting animal protein + +More information about how changes in diet affect kidney stone formation is provided in the NIDDK health topic, Diet for Kidney Stone Prevention. + +Medications + +The health care provider may prescribe certain medications to help prevent kidney stones based on the type of stone formed or conditions that make a person more prone to form stones: + +- hyperuricosuriaallopurinol (Zyloprim), which decreases uric acid in the blood and urine - hypercalciuriadiuretics, such as hydrochlorothiazide - hyperoxaluriapotassium citrate to raise the citrate and pH of urine - uric acid stonesallopurinol and potassium citrate - cystine stonesmercaptopropionyl glycine, which decreases cystine in the urine, and potassium citrate - struvite stonesantibiotics, which are bacteria-fighting medications, when needed to treat infections, or acetohydroxamic acid with long-term antibiotic medications to prevent infection + +People with hyperparathyroidism sometimes develop calcium stones. Treatment in these cases is usually surgery to remove the parathyroid glands. In most cases, only one of the glands is enlarged. Removing the glands cures hyperparathyroidism and prevents kidney stones.",NIDDK,Kidney Stones in Adults +What to do for Kidney Stones in Adults ?,"- A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. - Kidney stones are one of the most common disorders of the urinary tract. - Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. - People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all. - To diagnose kidney stones, the health care provider will perform a physical exam and take a medical history. The health care provider may perform urine, blood, and imaging tests to complete the diagnosis. - Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Treatments may include shock wave lithotripsy, ureteroscopy, or percutaneous nephrolithotomy. - Kidney stones may be prevented through changes in eating, diet, and nutrition and medications.",NIDDK,Kidney Stones in Adults +What is (are) What I need to know about Hirschsprung Disease ?,"Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD cant pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with HD are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An HD diagnosis in an adult is rare. + +*See Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Hirschsprung Disease +What is (are) What I need to know about Hirschsprung Disease ?,"The large intestine, which includes the colon and rectum, is the last part of the digestive tract. The large intestines main job is to absorb water and hold stool. The rectum connects the colon to the anus. Stool passes out of the body through the anus. At birth, the large intestine is about 2 feet long. An adults large intestine is about 5 feet long.",NIDDK,What I need to know about Hirschsprung Disease +What causes What I need to know about Hirschsprung Disease ?,"People with HD have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine. + +How severe HD is depends on how much of the large intestine is affected. Short-segment HD means only the last part of the large intestine lacks nerve cells. Long-segment HD means most or all of the large intestine, and sometimes the last part of the small intestine, lacks nerve cells. + +In a person with HD, stool moves through the large intestine until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops, causing an intestinal obstruction.",NIDDK,What I need to know about Hirschsprung Disease +What causes What I need to know about Hirschsprung Disease ?,"Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.",NIDDK,What I need to know about Hirschsprung Disease +What are the symptoms of What I need to know about Hirschsprung Disease ?,"The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem. + +Symptoms in Newborns + +Newborns with HD almost always fail to have their first bowel movement within 48 hours after birth. Other symptoms include + +- green or brown vomit - explosive stools after a doctor inserts a finger into the rectum - swelling of the belly, also known as the abdomen - lots of gas - bloody diarrhea + + + +Symptoms in Toddlers and Older Children + +Symptoms of HD in toddlers and older children include + +- not being able to pass stools without laxatives or enemas. A laxative is medicine that loosens stool and increases bowel movements. An enema is performed by flushing water, or sometimes a mild soap solution, into the anus using a special wash bottle. - swelling of the abdomen. - lots of gas. - bloody diarrhea. - slow growth or development. - lack of energy because of a shortage of red blood cells, called anemia.",NIDDK,What I need to know about Hirschsprung Disease +How to diagnose What I need to know about Hirschsprung Disease ?,"HD is diagnosed based on symptoms and test results. + +A doctor will perform a physical exam and ask questions about your childs bowel movements. HD is much less likely if parents can identify a time when their childs bowel habits were normal. + +If HD is suspected, the doctor will do one or more tests. + +X rays + +An x ray is a black-and-white picture of the inside of the body. To make the large intestine show up better, the doctor may fill it with barium liquid. Barium liquid is inserted into the large intestine through the anus. + +If HD is the problem, the last segment of the large intestine will look narrower than normal. Just before this narrow segment, the intestine will look bulged. The bulging is caused by blocked stool stretching the intestine. + +Manometry + +During manometry, the doctor inflates a small balloon inside the rectum. Normally, the rectal muscles will relax. If the muscles dont relax, HD may be the problem. This test is most often done in older children and adults. + +Biopsy + +Biopsy is the most accurate test for HD. The doctor removes a tiny piece of the large intestine and looks at it with a microscope. If nerve cells are missing, HD is the problem.",NIDDK,What I need to know about Hirschsprung Disease +What are the treatments for What I need to know about Hirschsprung Disease ?,"Pull-through Procedure + +HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis. + +Ostomy surgery + +An ostomy allows stool to leave the body through an opening in the abdomen. Although most children with HD do not need an ostomy, a child who has been very sick from HD may need an ostomy to get better before the pull-through procedure. + +For ostomy surgery, the surgeon first takes out the diseased segment of the large intestine. The end of the healthy intestine is moved to an opening in the abdomen where a stoma is created. A stoma is created by rolling the intestines end back on itself, like a shirt cuff, and stitching it to the abdominal wall. An ostomy pouch is attached to the stoma and worn outside the body to collect stool. The pouch will need to be emptied several times each day. + + + +If the surgeon removes the entire large intestine and connects the small intestine to the stoma, the surgery is called an ileostomy. If the surgeon leaves part of the large intestine and connects it to the stoma, the surgery is called a colostomy. + +Later, during the pull-through procedure, the surgeon removes the stoma and closes the abdomen with stitches.",NIDDK,What I need to know about Hirschsprung Disease +What to do for What I need to know about Hirschsprung Disease ?,"- Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. People with HD are born with it. - The large intestine, which includes the colon and rectum, is the last part of the digestive tract. - The cause of HD is unclear. HD is not caused by anything a mother did while pregnant. - The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. - Newborns with HD almost always fail to have their first bowel movement within 48 hours after birth. - HD is diagnosed based on symptoms and test results. - HD is treated with surgery called a pull-through procedure. - A child who has been very sick from HD may need an ostomy to get better before the pull-through procedure. - Most children pass stool normally after the pull-through procedure. - People with HD can suffer from an infection of the intestines, called enterocolitis, before or after surgery. - If you have a child with HD, your chance of having more children with HD is greater.",NIDDK,What I need to know about Hirschsprung Disease +What is (are) Gallstones ?,"Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver. + +Gallstones can range in size from a grain of sand to a golf ball. The gallbladder can develop a single large gallstone, hundreds of tiny stones, or both small and large stones. Gallstones can cause sudden pain in the upper right abdomen. This pain, called a gallbladder attack or biliary colic, occurs when gallstones block the ducts of the biliary tract.",NIDDK,Gallstones +What is (are) Gallstones ?,"The biliary tract consists of the gallbladder and the bile ducts. The bile ducts carry bile and other digestive enzymes from the liver and pancreas to the duodenumthe fi rst part of the small intestine. + +The liver produces bilea fl uid that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. Bile mostly consists of cholesterol, bile salts, and bilirubin. Bilirubin, a reddish-yellow substance, forms when hemoglobin from red blood cells breaks down. Most bilirubin is excreted through bile. + + + + + +The bile ducts of the biliary tract include the hepatic ducts, the common bile duct, the pancreatic duct, and the cystic duct. The gallbladder stores bile. Eating signals the gallbladder to contract and empty bile through the cystic duct and common bile duct into the duodenum to mix with food.",NIDDK,Gallstones +What causes Gallstones ?,"Imbalances in the substances that make up bile cause gallstones. Gallstones may form if bile contains too much cholesterol, too much bilirubin, or not enough bile salts. Scientists do not fully understand why these imbalances occur. Gallstones also may form if the gallbladder does not empty completely or often enough. + +The two types of gallstones are cholesterol and pigment stones: + +- Cholesterol stones, usually yellow-green in color, consist primarily of hardened cholesterol. In the United States, more than 80 percent of gallstones are cholesterol stones.1 - Pigment stones, dark in color, are made of bilirubin.",NIDDK,Gallstones +Who is at risk for Gallstones? ?,"Certain people have a higher risk of developing gallstones than others:2 + +- Women are more likely to develop gallstones than men. Extra estrogen can increase cholesterol levels in bile and decrease gallbladder contractions, which may cause gallstones to form. Women may have extra estrogen due to pregnancy, hormone replacement therapy, or birth control pills. - People over age 40 are more likely to develop gallstones than younger people. - People with a family history of gallstones have a higher risk. - American Indians have genetic factors that increase the amount of cholesterol in their bile. In fact, American Indians have the highest rate of gallstones in the United Statesalmost 65 percent of women and 30 percent of men have gallstones. - Mexican Americans are at higher risk of developing gallstones. + +Other factors that affect a persons risk of gallstones include2 + +- Obesity. People who are obese, especially women, have increased risk of developing gallstones. Obesity increases the amount of cholesterol in bile, which can cause stone formation. - Rapid weight loss. As the body breaks down fat during prolonged fasting and rapid weight loss, the liver secretes extra cholesterol into bile. Rapid weight loss can also prevent the gallbladder from emptying properly. Low-calorie diets and bariatric surgerysurgery that limits the amount of food a person can eat or digestlead to rapid weight loss and increased risk of gallstones. - Diet. Research suggests diets high in calories and refi ned carbohydrates and low in fi ber increase the risk of gallstones. Refi ned carbohydrates are grains processed to remove bran and germ, which contain nutrients and fiber. Examples of refi ned carbohydrates include white bread and white rice. - Certain intestinal diseases. Diseases that affect normal absorption of nutrients, such as Crohns disease, are associated with gallstones. - Metabolic syndrome, diabetes, and insulin resistance. These conditions increase the risk of gallstones. Metabolic syndrome also increases the risk of gallstone complications. Metabolic syndrome is a group of traits and medical conditions linked to being overweight or obese that puts people at risk for heart disease and type 2 diabetes. + +More information about these conditions is provided in the NIDDK health topic, Insulin Resistance and Prediabetes. + +- cirrhosisa condition in which the liver slowly deteriorates and malfunctions due to chronic, or long lasting, injury - infections in the bile ducts - severe hemolytic anemiasconditions in which red blood cells are continuously broken down, such as sickle cell anemia",NIDDK,Gallstones +What are the symptoms of Gallstones ?,"Many people with gallstones do not have symptoms. Gallstones that do not cause symptoms are called asymptomatic, or silent, gallstones. Silent gallstones do not interfere with the function of the gallbladder, liver, or pancreas. + +If gallstones block the bile ducts, pressure increases in the gallbladder, causing a gallbladder attack. The pain usually lasts from 1 to several hours.1 Gallbladder attacks often follow heavy meals, and they usually occur in the evening or during the night. + +Gallbladder attacks usually stop when gallstones move and no longer block the bile ducts. However, if any of the bile ducts remain blocked for more than a few hours, complications can occur. Complications include infl ammation, or swelling, of the gallbladder and severe damage or infection of the gallbladder, bile ducts, or liver. + +A gallstone that becomes lodged in the common bile duct near the duodenum and blocks the pancreatic duct can cause gallstone pancreatitisin flammation of the pancreas. + +Left untreated, blockages of the bile ducts or pancreatic duct can be fatal.",NIDDK,Gallstones +What is (are) Gallstones ?,"People who think they have had a gallbladder attack should notify their health care provider. Although these attacks usually resolve as gallstones move, complications can develop if the bile ducts remain blocked. + +People with any of the following symptoms during or after a gallbladder attack should see a health care provider immediately: + +- abdominal pain lasting more than 5 hours - nausea and vomiting - fevereven a low-grade feveror chills - yellowish color of the skin or whites of the eyes, called jaundice - tea-colored urine and light-colored stools + +These symptoms may be signs of serious infection or infl ammation of the gallbladder, liver, or pancreas.",NIDDK,Gallstones +How to diagnose Gallstones ?,"A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used. + +- Ultrasound exam. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers offi ce, outpatient center, or hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. If gallstones are present, they will be visible in the image. Ultrasound is the most accurate method to detect gallstones. - Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. CT scans can show gallstones or complications, such as infection and blockage of the gallbladder or bile ducts. However, CT scans can miss gallstones that are present. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed, though people with a fear of confi ned spaces may receive light sedation. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines allow the person to lie in a more open space. MRIs can show gallstones in the ducts of the biliary system. - Cholescintigraphy. Cholescintigraphyalso called a hydroxyl iminodiacetic acid scan, HIDA scan, or hepatobiliary scanuses an unharmful radioactive material to produce pictures of the biliary system. In cholescintigraphy, the person lies on an exam table and a health care provider injects a small amount of unharmful radioactive material into a vein in the persons arm. The health care provider may also inject a substance that causes the gallbladder to contract. A special camera takes pictures of the radioactive material as it moves through the biliary system. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. Cholescintigraphy is used to diagnose abnormal contractions of the gallbladder or obstruction of the bile ducts. - Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an x ray to look into the bile and pancreatic ducts. After lightly sedating the person, the health care provider inserts an endoscopea small, flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The health care provider injects contrast medium through the tube into the bile ducts, which makes the ducts show up on the monitor. The health care provider performs the procedure in an outpatient center or hospital. ERCP helps the health care provider locate the affected bile duct and the gallstone. The stone is captured in a tiny basket attached to the endoscope and removed. This test is more invasive than other tests and is used selectively. + +Health care providers also use blood tests to look for signs of infection or in flammation of the bile ducts, gallbladder, pancreas, or liver. A blood test involves drawing blood at a health care providers offi ce or commercial facility and sending the sample to a lab for analysis. + +Gallstone symptoms may be similar to those of other conditions, such as appendicitis, ulcers, pancreatitis, and gastroesophageal refl ux disease. + +Sometimes, silent gallstones are found when a person does not have any symptoms. For example, a health care provider may notice gallstones when performing ultrasound for a different reason.",NIDDK,Gallstones +What are the treatments for Gallstones ?,"If gallstones are not causing symptoms, treatment is usually not needed. However, if a person has a gallbladder attack or other symptoms, a health care provider will usually recommend treatment. A person may be referred to a gastroenterologista doctor who specializes in digestive diseasesfor treatment. If a person has had one gallbladder attack, more episodes will likely follow. + +The usual treatment for gallstones is surgery to remove the gallbladder. If a person cannot undergo surgery, nonsurgical treatments may be used to dissolve cholesterol gallstones. A health care provider may use ERCP to remove stones in people who cannot undergo surgery or to remove stones from the common bile duct in people who are about to have gallbladder removal surgery. + +Surgery + +Surgery to remove the gallbladder, called cholecystectomy, is one of the most common operations performed on adults in the United States. + +The gallbladder is not an essential organ, which means a person can live normally without a gallbladder. Once the gallbladder is removed, bile flows out of the liver through the hepatic and common bile ducts and directly into the duodenum, instead of being stored in the gallbladder. + +Surgeons perform two types of cholecystectomy: + +- Laparoscopic cholecystectomy. In a laparoscopic cholecystectomy, the surgeon makes several tiny incisions in the abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magni fied image from inside the body to a video monitor, giving the surgeon a close-up view of organs and tissues. While watching the monitor, the surgeon uses instruments to carefully separate the gallbladder from the liver, bile ducts, and other structures. Then the surgeon removes the gallbladder through one of the small incisions. Patients usually receive general anesthesia. Most cholecystectomies are performed with laparoscopy. Many laparoscopic cholecystectomies are performed on an outpatient basis, meaning the person is able to go home the same day. Normal physical activity can usually be resumed in about a week.3 - Open cholecystectomy. An open cholecystectomy is performed when the gallbladder is severely infl amed, infected, or scarred from other operations. In most of these cases, open cholecystectomy is planned from the start. However, a surgeon may perform an open cholecystectomy when problems occur during a laparoscopic cholecystectomy. In these cases, the surgeon must switch to open cholecystectomy as a safety measure for the patient. To perform an open cholecystectomy, the surgeon creates an incision about 4 to 6 inches long in the abdomen to remove the gallbladder.4 Patients usually receive general anesthesia. Recovery from open cholecystectomy may require some people to stay in the hospital for up to a week. Normal physical activity can usually be resumed after about a month.3 + +A small number of people have softer and more frequent stools after gallbladder removal because bile fl ows into the duodenum more often. Changes in bowel habits are usually temporary; however, they should be discussed with a health care provider. + +Though complications from gallbladder surgery are rare, the most common complication is injury to the bile ducts. An injured common bile duct can leak bile and cause a painful and possibly dangerous infection. One or more additional operations may be needed to repair the bile ducts. Bile duct injuries occur in less than 1 percent of cholecystectomies.5 + +Nonsurgical Treatments for Cholesterol Gallstones + +Nonsurgical treatments are used only in special situations, such as when a person with cholesterol stones has a serious medical condition that prevents surgery. Gallstones often recur within 5 years after nonsurgical treatment.6 + +Two types of nonsurgical treatments can be used to dissolve cholesterol gallstones: + +- Oral dissolution therapy. Ursodiol (Actigall) and chenodiol (Chenix) are medications that contain bile acids that can dissolve gallstones. These medications are most effective in dissolving small cholesterol stones. Months or years of treatment may be needed to dissolve all stones. - Shock wave lithotripsy. A machine called a lithotripter is used to crush the gallstone. The lithotripter generates shock waves that pass through the persons body to break the gallstone into smaller pieces. This procedure is used only rarely and may be used along with ursodiol.",NIDDK,Gallstones +What to do for Gallstones ?,"Factors related to eating, diet, and nutrition that increase the risk of gallstones include + +- obesity - rapid weight loss - diets high in calories and refi ned carbohydrates and low in fi ber + +People can decrease their risk of gallstones by maintaining a healthy weight through proper diet and nutrition. + +Ursodiol can help prevent gallstones in people who rapidly lose weight through low-calorie diets or bariatric surgery. People should talk with their health care provider or dietitian about what diet is right for them.",NIDDK,Gallstones +What to do for Gallstones ?,"- Gallstones are hard particles that develop in the gallbladder. - Imbalances in the substances that make up bile cause gallstones. Gallstones may form if bile contains too much cholesterol, too much bilirubin, or not enough bile salts. Scientists do not fully understand why these imbalances occur. - Women, people over age 40, people with a family history of gallstones, American Indians, and Mexican Americans have a higher risk of developing gallstones. - Many people with gallstones do not have symptoms. Gallstones that do not cause symptoms are called asymptomatic, or silent, gallstones. - If gallstones block the bile ducts, pressure increases in the gallbladder, causing a gallbladder attack. - Gallbladder attacks often follow heavy meals, and they usually occur in the evening or during the night. - Gallstone symptoms may be similar to those of other conditions. - If gallstones are not causing symptoms, treatment is usually not needed. However, if a person has a gallbladder attack or other symptoms, a health care provider will usually recommend treatment. - The usual treatment for gallstones is surgery to remove the gallbladder. If a person cannot undergo surgery, nonsurgical treatments may be used to dissolve cholesterol gallstones. A health care provider may use endoscopic retrograde cholangiopancreatography (ERCP) to remove stones in people who cannot undergo surgery or to remove stones from the common bile duct in people who are about to have gallbladder removal surgery. - The gallbladder is not an essential organ, which means a person can live normally without a gallbladder. Once the gallbladder is removed, bile flows out of the liver through the hepatic and common bile ducts and directly into the duodenum, instead of being stored in the gallbladder.",NIDDK,Gallstones +What is (are) Smoking and the Digestive System ?,"The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. Food enters the mouth and passes to the anus through the hollow organs of the GI tract. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food, which includes breaking food down into nutrients the body needs. Nutrients are substances the body uses for energy, growth, and cell repair.",NIDDK,Smoking and the Digestive System +Who is at risk for Smoking and the Digestive System? ?,"Smoking has been found to increase the risk of cancers of the3 + +- mouth - esophagus - stomach - pancreas + +3 + +, + +4 + +, + +5 + +- liver - colon - rectum + +More information about the link between smoking and cancers of the digestive system can be found on the National Cancer Institute website at www.cancer.gov/cancertopics/tobacco/smoking.",NIDDK,Smoking and the Digestive System +What is (are) Smoking and the Digestive System ?,"Smoking contributes to many common disorders of the digestive system, such as heartburn and gastroesophageal reflux disease (GERD), peptic ulcers, and some liver diseases. Smoking increases the risk of Crohns disease, colon polyps, and pancreatitis, and it may increase the risk of gallstones.",NIDDK,Smoking and the Digestive System +What to do for Smoking and the Digestive System ?,"Eating, diet, and nutrition can play a role in causing, preventing, and treating some of the diseases and disorders of the digestive system that are affected by smoking, including heartburn and GERD, liver diseases, Crohns disease, colon polyps, pancreatitis, and gallstones. More information about eating, diet, and nutrition and these conditions can be found on the Digestive Diseases A-Z list.",NIDDK,Smoking and the Digestive System +What to do for Smoking and the Digestive System ?,"- Smoking has been found to increase the risk of cancers of the mouth, esophagus, stomach, and pancreas. Research suggests that smoking may also increase the risk of cancers of the liver, colon, and rectum. - Smoking increases the risk of heartburn and gastroesophageal reflux disease (GERD). - Smoking increases the risk of peptic ulcers. - Smoking may worsen some liver diseases, including primary biliary cirrhosis and nonalcoholic fatty liver disease (NAFLD). - Current and former smokers have a higher risk of developing Crohns disease than people who have never smoked. - People who smoke are more likely to develop colon polyps. - Smoking increases the risk of developing pancreatitis. - Some studies have shown that smoking may increase the risk of developing gallstones. However, research results are not consistent and more study is needed. - Quitting smoking can reverse some of the effects of smoking on the digestive system.",NIDDK,Smoking and the Digestive System +What is (are) Graves' Disease ?,"Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. + +The Thyroid + +The thyroid is a 2-inch-long, butterfly-shaped gland in the front of the neck below the larynx, or voice box. The thyroid makes two thyroid hormones, triiodothyronine (T3 ) and thyroxine (T4 ). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones circulate throughout the body in the bloodstream and act on virtually every tissue and cell in the body. + +Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. Hyperthyroidism causes many of the bodys functions to speed up. + +Thyroid hormone production is regulated by another hormone called thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by decreasing TSH production. + + + +Autoimmune Disorder + +Graves disease is an autoimmune disorder. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. + +With Graves disease, the immune system makes an antibody called thyroid-stimulating immunoglobulin (TSI)sometimes called TSH receptor antibodythat attaches to thyroid cells. TSI mimics TSH and stimulates the thyroid to make too much thyroid hormone. Sometimes the TSI antibody instead blocks thyroid hormone production, leading to conflicting symptoms that may make correct diagnosis more difficult.",NIDDK,Graves' Disease +What are the symptoms of Graves' Disease ?,"People with Graves disease may have common symptoms of hyperthyroidism such as + +- nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea - weight loss - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing + +A small number of people with Graves disease also experience thickening and reddening of the skin on their shins. This usually painless problem is called pretibial myxedema or Graves dermopathy. + +In addition, the eyes of people with Graves disease may appear enlarged because their eyelids are retractedseem pulled back into the eye socketsand their eyes bulge out from the eye sockets. This condition is called Graves ophthalmopathy (GO).",NIDDK,Graves' Disease +What is (are) Graves' Disease ?,"Graves ophthalmopathy is a condition associated with Graves disease that occurs when cells from the immune system attack the muscles and other tissues around the eyes. + +The result is inflammation and a buildup of tissue and fat behind the eye socket, causing the eyeballs to bulge out. Rarely, inflammation is severe enough to compress the optic nerve that leads to the eye, causing vision loss. + +Other GO symptoms are + +- dry, gritty, and irritated eyes - puffy eyelids - double vision - light sensitivity - pressure or pain in the eyes - trouble moving the eyes + +About 25 to 30 percent of people with Graves disease develop mild GO, and 2 to 5 percent develop severe GO.1 This eye condition usually lasts 1 to 2 years and often improves on its own. + +GO can occur before, at the same time as, or after other symptoms of hyperthyroidism develop and may even occur in people whose thyroid function is normal. Smoking makes GO worse. + +1Yeung SJ, Habra MA, Chiu AC. Graves disease. emedicine website. emedicine.medscape.com/article/120619-overview. Updated 2010. Accessed December 10, 2011.",NIDDK,Graves' Disease +How to diagnose Graves' Disease ?,"Health care providers can sometimes diagnose Graves disease based only on a physical examination and a medical history. Blood tests and other diagnostic tests, such as the following, then confirm the diagnosis. + +TSH test. The ultrasensitive TSH test is usually the first test performed. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. + +T3 and T4 test. Another blood test used to diagnose Graves disease measures T3 and T4 levels. In making a diagnosis, health care providers look for below-normal levels of TSH, normal to elevated levels of T4, and elevated levels of T3. + +Because the combination of low TSH and high T3 and T4 can occur with other thyroid problems, health care providers may order other tests to finalize the diagnosis. The following two tests use small, safe doses of radioactive iodine because the thyroid uses iodine to make thyroid hormone. + +Radioactive iodine uptake test. This test measures the amount of iodine the thyroid collects from the bloodstream. High levels of iodine uptake can indicate Graves disease. + +Thyroid scan. This scan shows how and where iodine is distributed in the thyroid. With Graves disease the entire thyroid is involved, so the iodine shows up throughout the gland. Other causes of hyperthyroidism such as nodulessmall lumps in the glandshow a different pattern of iodine distribution. + +TSI test. Health care providers may also recommend the TSI test, although this test usually isnt necessary to diagnose Graves disease. This test, also called a TSH antibody test, measures the level of TSI in the blood. Most people with Graves disease have this antibody, but people whose hyperthyroidism is caused by other conditions do not. + +More information about testing for thyroid problems is provided in the NIDDK health topic, Thyroid Tests.",NIDDK,Graves' Disease +What are the treatments for Graves' Disease ?,"People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands. + +Radioiodine Therapy + +In radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. Iodine-131stronger than the radioactive iodine used in diagnostic testsgradually destroys the cells that make up the thyroid gland but does not affect other body tissues. + +Many health care providers use a large enough dose of iodine-131 to shut down the thyroid completely, but some prefer smaller doses to try to bring hormone production into the normal range. More than one round of radioiodine therapy may be needed. Results take time and people undergoing this treatment may not notice improvement in symptoms for several weeks or months. + +People with GO should talk with a health care provider about any risks associated with radioactive iodine treatments. Several studies suggest radioiodine therapy can worsen GO in some people. Other treatments, such as prescription steroids, may prevent this complication. + +Although iodine-131 is not known to cause birth defects or infertility, radioiodine therapy is not used in pregnant women or women who are breastfeeding. Radioactive iodine can be harmful to the fetus thyroid and can be passed from mother to child in breast milk. Experts recommend that women wait a year after treatment before becoming pregnant. + +Almost everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make enough thyroid hormone. People with hypothyroidism must take synthetic thyroid hormone, a medication that replaces their natural thyroid hormone. + +Medications + +Beta blockers. Health care providers may prescribe a medication called a beta blocker to reduce many of the symptoms of hyperthyroidism, such as tremors, rapid heartbeat, and nervousness. But beta blockers do not stop thyroid hormone production. + +Anti-thyroid medications. Health care providers sometimes prescribe anti-thyroid medications as the only treatment for Graves disease. Anti-thyroid medications interfere with thyroid hormone production but dont usually have permanent results. Use of these medications requires frequent monitoring by a health care provider. More often, anti-thyroid medications are used to pretreat patients before surgery or radioiodine therapy, or they are used as supplemental treatment after radioiodine therapy. + +Anti-thyroid medications can cause side effects in some people, including + +- allergic reactions such as rashes and itching - a decrease in the number of white blood cells in the body, which can lower a persons resistance to infection - liver failure, in rare cases + +In the United States, health care providers prescribe the anti-thyroid medication methimazole (Tapazole, Northyx) for most types of hyperthyroidism. + +Anti-thyroid medications and pregnancy. Because pregnant and breastfeeding women cannot receive radioiodine therapy, they are usually treated with an anti-thyroid medication instead. However, experts agree that women in their first trimester of pregnancy should probably not take methimazole due to the rare occurrence of damage to the fetus. + +Another anti-thyroid medication, propylthiouracil (PTU), is available for women in this stage of pregnancy or for women who are allergic to or intolerant of methimazole and have no other treatment options. Health care providers may prescribe PTU for the first trimester of pregnancy and switch to methimazole for the second and third trimesters. + +Some women are able to stop taking anti-thyroid medications in the last 4 to 8 weeks of pregnancy due to the remission of hyperthyroidism that occurs during pregnancy. However, these women should continue to be monitored for recurrence of thyroid problems following delivery. + +Studies have shown that mothers taking anti-thyroid medications may safely breastfeed. However, they should take only moderate doses, less than 1020 milligrams daily, of the anti-thyroid medication methimazole. Doses should be divided and taken after feedings, and the infants should be monitored for side effects.2 + +Women requiring higher doses of the anti-thyroid medication to control hyperthyroidism should not breastfeed. + +2Ogunyemi DA. Autoimmune thyroid disease and pregnancy. emedicine website. emedicine.medscape.com/article/261913-overview. Updated March 12, 2012. Accessed April 10, 2012. + +Stop your anti-thyroid medication and call your health care provider right away if you develop any of the following while taking anti-thyroid medications: - fatigue - weakness - vague abdominal pain - loss of appetite - skin rash or itching - easy bruising - yellowing of the skin or whites of the eyes, called jaundice - persistent sore throat - fever + +Thyroid Surgery + +Surgery is the least-used option for treating Graves disease. Sometimes surgery may be used to treat + +- pregnant women who cannot tolerate anti-thyroid medications - people suspected of having thyroid cancer, though Graves disease does not cause cancer - people for whom other forms of treatment are not successful + +Before surgery, the health care provider may prescribe anti-thyroid medications to temporarily bring a patients thyroid hormone levels into the normal range. This presurgical treatment prevents a condition called thyroid storma sudden, severe worsening of symptomsthat can occur when hyperthyroid patients have general anesthesia. + +When surgery is used, many health care providers recommend the entire thyroid be removed to eliminate the chance that hyperthyroidism will return. If the entire thyroid is removed, lifelong thyroid hormone medication is necessary. + +Although uncommon, certain problems can occur in thyroid surgery. The parathyroid glands can be damaged because they are located very close to the thyroid. These glands help control calcium and phosphorous levels in the body. Damage to the laryngeal nerve, also located close to the thyroid, can lead to voice changes or breathing problems. + +But when surgery is performed by an experienced surgeon, less than 1 percent of patients have permanent complications.1 People who need help finding a surgeon can contact one of the organizations listed under For More Information. + +Eye Care + +The eye problems associated with Graves disease may not improve following thyroid treatment, so the two problems are often treated separately. + +Eye drops can relieve dry, gritty, irritated eyesthe most common of the milder symptoms. If pain and swelling occur, health care providers may prescribe a steroid such as prednisone. Other medications that suppress the immune response may also provide relief. + +Special lenses for glasses can help with light sensitivity and double vision. People with eye symptoms may be advised to sleep with their head elevated to reduce eyelid swelling. If the eyelids do not fully close, taping them shut at night can help prevent dry eyes. + +In more severe cases, external radiation may be applied to the eyes to reduce inflammation. Like other types of radiation treatment, the benefits are not immediate; most people feel relief from symptoms 1 to 2 months after treatment. + +Surgery may be used to improve bulging of the eyes and correct the vision changes caused by pressure on the optic nerve. A procedure called orbital decompression makes the eye socket bigger and gives the eye room to sink back to a more normal position. Eyelid surgery can return retracted eyelids to their normal position.",NIDDK,Graves' Disease +What are the treatments for Graves' Disease ?,"Treatment for Graves disease can sometimes affect pregnancy. After treatment with surgery or radioactive iodine, TSI antibodies can still be present in the blood, even when thyroid levels are normal. If a pregnant woman has received either of these treatments prior to becoming pregnant, the antibodies she produces may travel across the placenta to the babys bloodstream and stimulate the fetal thyroid. + +A pregnant woman who has been treated with surgery or radioactive iodine should inform her health care provider so her baby can be monitored for thyroid-related problems later in the pregnancy. Pregnant women may safely be treated with anti-thyroid medications. + +For more information about pregnancy and anti-thyroid medications, see Medications under the section titled How is Graves disease treated?More information about pregnancy and thyroid disease is provided in the NIDDK health topic, Pregnancy and Thyroid Disease.",NIDDK,Graves' Disease +What to do for Graves' Disease ?,"Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library available at www.nutrition.gov. + +Dietary Supplements + +Iodine is an essential mineral for the thyroid. However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hyperthyroidism. More information about iodine is provided by the National Library of Medicine in the fact sheet, Iodine in diet, available at www.nlm.nih.gov/medlineplus. + +Women need more iodine when they are pregnantabout 250 micrograms a daybecause the baby gets iodine from the mothers diet. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Choosing iodized saltsalt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met. + +To help ensure coordinated and safe care, people should discuss their use of dietary supplements, such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health. + +3 Zimmerman MB. Iodine deficiency in pregnancy and the effects of maternal iodine supplementation on the offspring: a review. American Journal of Clinical Nutrition. 2009;89(2):668S672S.",NIDDK,Graves' Disease +What to do for Graves' Disease ?,"- Graves disease is the most common cause of hyperthyroidism in the United States. - In Graves disease, the immune system stimulates the thyroid gland to make too much thyroid hormone. - Common symptoms of hyperthyroidism include nervousness or irritability, fatigue or muscle weakness, heat intolerance, trouble sleeping, hand tremors, rapid and irregular heartbeat, frequent bowel movements or diarrhea, weight loss, and goiter. - People with Graves disease may also have bulging eyes, a condition called Graves ophthalmopathy (GO). - Graves disease is most often treated with radioiodine therapy, which gradually destroys the cells that make up the thyroid gland. Anti-thyroid medications and surgery to remove the thyroid are sometimes used. - The eye problems associated with Graves disease may require separate treatment. - A pregnant woman who has been treated with surgery or radioactive iodine prior to becoming pregnant should inform her health care provider so her baby can be monitored for thyroid-related problems later in the pregnancy.",NIDDK,Graves' Disease +Who is at risk for Sexual and Urologic Problems of Diabetes? ?,"Risk factors are conditions that increase the chances of getting a particular disease. The more risk factors people have, the greater their chances of developing that disease or condition. Diabetic neuropathy and related sexual and urologic problems appear to be more common in people who + +- have poor blood glucose control - have high levels of blood cholesterol - have high blood pressure - are overweight - are older than 40 - smoke - are physically inactive",NIDDK,Sexual and Urologic Problems of Diabetes +How to prevent Sexual and Urologic Problems of Diabetes ?,"People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. For those who smoke, quitting will lower the risk of developing sexual and urologic problems due to nerve damage and also lower the risk for other health problems related to diabetes, including heart attack, stroke, and kidney disease. + +More information about preventing diabetes complications is provided in the NIDDK health topic, Prevent diabetes problems: Keep your diabetes under control, available from the National Diabetes Information Clearinghouse at 1-800-860-8747.",NIDDK,Sexual and Urologic Problems of Diabetes +What to do for Sexual and Urologic Problems of Diabetes ?,"The nerve damage of diabetes may cause sexual or urologic problems. + +- Sexual problems in men with diabetes include - erectile dysfunction - retrograde ejaculation - Sexual problems in women with diabetes include - decreased vaginal lubrication and uncomfortable or painful intercourse - decreased or no sexual desire - decreased or absent sexual response - Urologic problems in men and women with diabetes include - bladder problems related to nerve damage, such as overactive bladder, poor control of sphincter muscles, and urine retention - urinary tract infections - Controlling diabetes through diet, physical activity, and medications as needed can help prevent sexual and urologic problems. - Treatment is available for sexual and urologic problems.",NIDDK,Sexual and Urologic Problems of Diabetes +What is (are) What I need to know about Gas ?,"Gas is air in the digestive tract. Gas leaves the body when people burp through the mouth or pass gas through the anus*the opening at the end of the digestive tract where stool leaves the body. + +Everyone has gas. Burping and passing gas are normal. Many people believe that they burp or pass gas too often and that they have too much gas. Having too much gas is rare.",NIDDK,What I need to know about Gas +What causes What I need to know about Gas ?,"Gas in the digestive tract is usually caused by swallowing air and the breakdown of certain foods in the large intestine. + +*See the Pronunciation Guide for tips on how to say the underlined words. + +You typically swallow a small amount of air when you eat and drink. You swallow more air when you + +- eat or drink too fast - smoke - chew gum - suck on hard candy - drink carbonated or fizzy drinks - wear loose-fitting dentures + +Some of the air you swallow leaves the stomach through the mouth when you burp. Some swallowed air is absorbed in the small intestine. Some air moves through the small intestine to the large intestine and is passed through the anus. + + + +The stomach and small intestine do not fully digest all of the food you eat. Undigested carbohydratessugars, starches, and fiber found in many foodspass through to the large intestine. Bacteria in the large intestine break down undigested carbohydrates and release gas. This gas is passed through the anus. + +Normally, few bacteria live in the small intestine. Small intestinal bacterial overgrowth (SIBO) is an increase in the number of bacteria or a change in the type of bacteria in the small intestine. These bacteria can produce excess gas and may also cause diarrhea and weight loss. SIBO is usually related to diseases or disorders that damage the digestive system or affect how it works, such as Crohns disease or diabetes.",NIDDK,What I need to know about Gas +What causes What I need to know about Gas ?,"Most foods that contain carbohydrates can cause gas. Foods that cause gas for one person may not cause gas for someone else. Some foods that contain carbohydrates and may cause gas are + +- beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, the sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol",NIDDK,What I need to know about Gas +What are the symptoms of What I need to know about Gas ?,"The most common symptoms of gas are: + +- Burping. Burping once in awhile, especially during and after meals, is normal. If you burp very often, you may be swallowing too much air. Some people with digestive problems swallow air on purpose and burp because they believe it will help them feel better. - Passing gas. Passing gas around 13 to 21 times a day is normal. If you think you pass gas more often than that, you may have trouble digesting certain carbohydrates. - Bloating. Bloating is a feeling of fullness and swelling in the abdomen, the area between the chest and hips. Disorders such as irritable bowel syndrome (IBS) can affect how gas moves through the intestines. If gas moves through your intestines too slowly, you may feel bloated. - Abdominal pain or discomfort. People may feel abdominal pain or discomfort when gas does not move through the intestines normally. People with IBS may be more sensitive to gas in the intestines.",NIDDK,What I need to know about Gas +What causes What I need to know about Gas ?,"You can try to find the cause of gas by keeping a diary of what you eat and drink and how often you burp, pass gas, or have other symptoms. The diary may help you identify the foods that cause you to have gas. + +Talk with your health care provider if + +- gas symptoms often bother you - your symptoms change suddenly - you have new symptoms, especially if you are older than age 40 - you have other symptomssuch as constipation, diarrhea, or weight lossalong with gas + + + +Your health care provider will ask about your diet and symptoms. Your health care provider may review your diary to see if specific foods are causing gas. + +If milk or milk products are causing gas, your health care provider may perform blood or breath tests to check for lactose intolerance. Lactose intolerance means you have trouble digesting lactose. Your health care provider may ask you to avoid milk and milk products for a short time to see if your gas symptoms improve. + +Your health care provider may test for other digestive problems, depending on your symptoms.",NIDDK,What I need to know about Gas +What are the treatments for What I need to know about Gas ?,"You can try to treat gas on your own, before seeing your health care provider, if you think you have too much. + +Swallowing less air and changing what you eat can help prevent or reduce gas. Try the following tips: + +- Eat more slowly. - If you smoke, quit or cut down. - If you wear dentures, see your dentist and make sure your dentures fit correctly. - Dont chew gum or suck on hard candies. - Avoid carbonated drinks, such as soda and beer. - Drink less fruit juice, especially apple juice and pear juice. - Avoid or eat less of the foods that cause you to have gas. + +Some over-the-counter medicines can help reduce gas: + +- Taking alpha-galactosidase (Beano) when you eat beans, vegetables, and whole grains can reduce gas. - Simethicone (Gas-X, Mylanta Gas) can relieve bloating and abdominal pain or discomfort caused by gas. - If you are lactose intolerant, lactase tablets or liquid drops can help you digest milk and milk products. You can also find lactose-free and lactose-reduced milk and milk products at the grocery store. + +Your health care provider may prescribe medicine to help relieve gas, especially if you have SIBO or IBS.",NIDDK,What I need to know about Gas +What to do for What I need to know about Gas ?,"Your eating habits and diet affect the amount of gas you have. For example, eating and drinking too fast can cause you to swallow more air. And you may have more gas after you eat certain carbohydrates. + +Track what you eat and your gas symptoms to find out what foods cause you to have more gas. Avoid or eat less of the foods that cause your gas symptoms.",NIDDK,What I need to know about Gas +What to do for What I need to know about Gas ?,"- Gas is air in the digestive tract. - Everyone has gas. Burping and passing gas are normal. - Gas in the digestive tract is usually caused by swallowing air and the breakdown of certain foods in the large intestine. - Most foods that contain carbohydrates can cause gas. - Foods that cause gas for one person may not cause gas for someone else. - The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. - Swallowing less air and changing what you eat can help prevent or reduce gas. - Some over-the-counter medicines can help reduce gas.",NIDDK,What I need to know about Gas +"What is (are) Diabetes, Heart Disease, and Stroke ?","Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel. + +After digestion, glucose enters the bloodstream. Then glucose goes to cells throughout the body where it is used for energy. However, a hormone called insulin must be present to allow glucose to enter the cells. Insulin is a hormone produced by the pancreas, a large gland behind the stomach. + +In people who do not have diabetes, the pancreas automatically produces the right amount of insulin to move glucose from blood into the cells. However, diabetes develops when the pancreas does not make enough insulin, or the cells in the muscles, liver, and fat do not use insulin properly, or both. As a result, the amount of glucose in the blood increases while the cells are starved of energy. + +Over time, high blood glucose levels damage nerves and blood vessels, leading to complications such as heart disease and stroke, the leading causes of death among people with diabetes. Uncontrolled diabetes can eventually lead to other health problems as well, such as vision loss, kidney failure, and amputations.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What is (are) Diabetes, Heart Disease, and Stroke ?","Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for heart disease and stroke. With modest weight loss and moderate physical activity, people with prediabetes can delay or prevent type 2 diabetes and lower their risk of heart disease and stroke.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What is (are) Diabetes, Heart Disease, and Stroke ?","If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your chance of having a heart attack is as high as someone without diabetes who has already had one heart attack. Women who have not gone through menopause usually have less risk of heart disease than men of the same age. But women of all ages with diabetes have an increased risk of heart disease because diabetes cancels out the protective effects of being a woman in her child-bearing years. + +People with diabetes who have already had one heart attack run an even greater risk of having a second one. In addition, heart attacks in people with diabetes are more serious and more likely to result in death. High blood glucose levels over time can lead to increased deposits of fatty materials on the insides of the blood vessel walls. These deposits may affect blood flow, increasing the chance of clogging and hardening of blood vessels (atherosclerosis).",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What is (are) Diabetes, Heart Disease, and Stroke ?","If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your chance of having a heart attack is as high as someone without diabetes who has already had one heart attack. Women who have not gone through menopause usually have less risk of heart disease than men of the same age. But women of all ages with diabetes have an increased risk of heart disease because diabetes cancels out the protective effects of being a woman in her child-bearing years. + +People with diabetes who have already had one heart attack run an even greater risk of having a second one. In addition, heart attacks in people with diabetes are more serious and more likely to result in death. High blood glucose levels over time can lead to increased deposits of fatty materials on the insides of the blood vessel walls. These deposits may affect blood flow, increasing the chance of clogging and hardening of blood vessels (atherosclerosis).",NIDDK,"Diabetes, Heart Disease, and Stroke" +"Who is at risk for Diabetes, Heart Disease, and Stroke? ?","Diabetes itself is a risk factor for heart disease and stroke. Also, many people with diabetes have other conditions that increase their chance of developing heart disease and stroke. These conditions are called risk factors. One risk factor for heart disease and stroke is having a family history of heart disease. If one or more members of your family had a heart attack at an early age (before age 55 for men or 65 for women), you may be at increased risk. + +You can't change whether heart disease runs in your family, but you can take steps to control the other risk factors for heart disease listed here: + +- Having central obesity. Central obesity means carrying extra weight around the waist, as opposed to the hips. A waist measurement of more than 40 inches for men and more than 35 inches for women means you have central obesity. Your risk of heart disease is higher because abdominal fat can increase the production of LDL (bad) cholesterol, the type of blood fat that can be deposited on the inside of blood vessel walls. - Having abnormal blood fat (cholesterol) levels. - LDL cholesterol can build up inside your blood vessels, leading to narrowing and hardening of your arteriesthe blood vessels that carry blood from the heart to the rest of the body. Arteries can then become blocked. Therefore, high levels of LDL cholesterol raise your risk of getting heart disease. - Triglycerides are another type of blood fat that can raise your risk of heart disease when the levels are high. - HDL (good) cholesterol removes deposits from inside your blood vessels and takes them to the liver for removal. Low levels of HDL cholesterol increase your risk for heart disease. - Having high blood pressure. If you have high blood pressure, also called hypertension, your heart must work harder to pump blood. High blood pressure can strain the heart, damage blood vessels, and increase your risk of heart attack, stroke, eye problems, and kidney problems. - Smoking. Smoking doubles your risk of getting heart disease. Stopping smoking is especially important for people with diabetes because both smoking and diabetes narrow blood vessels. Smoking also increases the risk of other long-term complications, such as eye problems. In addition, smoking can damage the blood vessels in your legs and increase the risk of amputation.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What is (are) Diabetes, Heart Disease, and Stroke ?","Metabolic syndrome is a grouping of traits and medical conditions that puts people at risk for both heart disease and type 2 diabetes. It is defined by the National Cholesterol Education Program as having any three of the following five traits and medical conditions: + +Traits and Medical Conditions Definition Elevated waist circumference Waist measurement of - 40 inches or more in men - 35 inches or more in women Elevated levels of triglycerides - 150 mg/dL or higher or Taking medication for elevated triglyceride levels Low levels of HDL (good) cholesterol - Below 40 mg/dL in men - Below 50 mg/dL in women or Taking medication for low HDL cholesterol levels Elevated blood pressure levels - 130 mm Hg or higher for systolic blood pressure or - 85 mm Hg or higher for diastolic blood pressure or Taking medication for elevated blood pressure levels Elevated fasting blood glucose levels - 100 mg/dL or higher or Taking medication for elevated blood glucose levels",NIDDK,"Diabetes, Heart Disease, and Stroke" +"How to prevent Diabetes, Heart Disease, and Stroke ?","Even if you are at high risk for heart disease and stroke, you can help keep your heart and blood vessels healthy. You can do so by taking the following steps: + +- Make sure that your diet is ""heart-healthy."" Meet with a registered dietitian to plan a diet that meets these goals: - Include at least 14 grams of fiber daily for every 1,000 calories consumed. Foods high in fiber may help lower blood cholesterol. Oat bran, oatmeal, whole-grain breads and cereals, dried beans and peas (such as kidney beans, pinto beans, and black-eyed peas), fruits, and vegetables are all good sources of fiber. Increase the amount of fiber in your diet gradually to avoid digestive problems. - Cut down on saturated fat. It raises your blood cholesterol level. Saturated fat is found in meats, poultry skin, butter, dairy products with fat, shortening, lard, and tropical oils such as palm and coconut oil. Your dietitian can figure out how many grams of saturated fat should be your daily maximum amount. - Keep the cholesterol in your diet to less than 300 milligrams a day. Cholesterol is found in meat, dairy products, and eggs. - Keep the amount of trans fat in your diet to a minimum. It's a type of fat in foods that raises blood cholesterol. Limit your intake of crackers, cookies, snack foods, commercially prepared baked goods, cake mixes, microwave popcorn, fried foods, salad dressings, and other foods made with partially hydrogenated oil. In addition, some kinds of vegetable shortening and margarines have trans fat. Check for trans fat in the Nutrition Facts section on the food package. - If you smoke, quit. Your doctor can help you find ways to quit smoking. - Ask your doctor whether you should take aspirin. Studies have shown that taking a low dose of aspirin every day can help reduce the risk of heart disease and stroke. However, aspirin is not safe for everyone. Your doctor can tell you whether taking aspirin is right for you and exactly how much to take. - Get prompt treatment for transient ischemic attacks (TIAs). Early treatment for TIAs, sometimes called mini-strokes, may help prevent or delay a future stroke. Signs of a TIA are sudden weakness, loss of balance, numbness, confusion, blindness in one or both eyes, double vision, difficulty speaking, or a severe headache.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What are the treatments for Diabetes, Heart Disease, and Stroke ?","You can keep track of the ABCs of diabetes to make sure your treatment is working. Talk with your health care provider about the best targets for you. + +A stands for A1C (a test that measures blood glucose control). Have an A1C test at least twice a year. It shows your average blood glucose level over the past 3 months. Talk with your doctor about whether you should check your blood glucose at home and how to do it. + +A1C target Below 7 percent, unless your doctor sets a different target + + + +Blood glucose targets Before meals 90 to 130 mg/dL 1 to 2 hours after the start of a meal Less than 180 mg/dL + +B is for blood pressure. Have it checked at every office visit. + +Blood pressure target Below 140/80 mm Hg, unless your doctor sets a different target + +C is for cholesterol. Have it checked at least once a year. + +Blood fat (cholesterol) targets LDL (bad) cholesterol Under 100 mg/dL Triglycerides Under 150 mg/dL HDL (good) cholesterol For men: above 40 mg/dL For women: above 50 mg/dL + +Control of the ABCs of diabetes can reduce your risk for heart disease and stroke. If your blood glucose, blood pressure, and cholesterol levels aren't on target, ask your doctor what changes in diet, activity, and medications can help you reach these goals.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What is (are) Diabetes, Heart Disease, and Stroke ?","Two major types of heart and blood vessel disease, also called cardiovascular disease, are common in people with diabetes: coronary artery disease (CAD) and cerebral vascular disease. People with diabetes are also at risk for heart failure. Narrowing or blockage of the blood vessels in the legs, a condition called peripheral arterial disease, can also occur in people with diabetes. + +Coronary Artery Disease + +Coronary artery disease, also called ischemic heart disease, is caused by a hardening or thickening of the walls of the blood vessels that go to your heart. Your blood supplies oxygen and other materials your heart needs for normal functioning. If the blood vessels to your heart become narrowed or blocked by fatty deposits, the blood supply is reduced or cut off, resulting in a heart attack. + +Cerebral Vascular Disease + +Cerebral vascular disease affects blood flow to the brain, leading to strokes and TIAs. It is caused by narrowing, blocking, or hardening of the blood vessels that go to the brain or by high blood pressure. + +Stroke + +A stroke results when the blood supply to the brain is suddenly cut off, which can occur when a blood vessel in the brain or neck is blocked or bursts. Brain cells are then deprived of oxygen and die. A stroke can result in problems with speech or vision or can cause weakness or paralysis. Most strokes are caused by fatty deposits or blood clotsjelly-like clumps of blood cellsthat narrow or block one of the blood vessels in the brain or neck. A blood clot may stay where it formed or can travel within the body. People with diabetes are at increased risk for strokes caused by blood clots. + +A stroke may also be caused by a bleeding blood vessel in the brain. Called an aneurysm, a break in a blood vessel can occur as a result of high blood pressure or a weak spot in a blood vessel wall. + +TIAs + +TIAs are caused by a temporary blockage of a blood vessel to the brain. This blockage leads to a brief, sudden change in brain function, such as temporary numbness or weakness on one side of the body. Sudden changes in brain function also can lead to loss of balance, confusion, blindness in one or both eyes, double vision, difficulty speaking, or a severe headache. However, most symptoms disappear quickly and permanent damage is unlikely. If symptoms do not resolve in a few minutes, rather than a TIA, the event could be a stroke. The occurrence of a TIA means that a person is at risk for a stroke sometime in the future. See page 3 for more information on risk factors for stroke. + +Heart Failure + +Heart failure is a chronic condition in which the heart cannot pump blood properlyit does not mean that the heart suddenly stops working. Heart failure develops over a period of years, and symptoms can get worse over time. People with diabetes have at least twice the risk of heart failure as other people. One type of heart failure is congestive heart failure, in which fluid builds up inside body tissues. If the buildup is in the lungs, breathing becomes difficult. + +Blockage of the blood vessels and high blood glucose levels also can damage heart muscle and cause irregular heart beats. People with damage to heart muscle, a condition called cardiomyopathy, may have no symptoms in the early stages, but later they may experience weakness, shortness of breath, a severe cough, fatigue, and swelling of the legs and feet. Diabetes can also interfere with pain signals normally carried by the nerves, explaining why a person with diabetes may not experience the typical warning signs of a heart attack. + +Peripheral Arterial Disease + +Another condition related to heart disease and common in people with diabetes is peripheral arterial disease (PAD). With this condition, the blood vessels in the legs are narrowed or blocked by fatty deposits, decreasing blood flow to the legs and feet. PAD increases the chances of a heart attack or stroke occurring. Poor circulation in the legs and feet also raises the risk of amputation. Sometimes people with PAD develop pain in the calf or other parts of the leg when walking, which is relieved by resting for a few minutes.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What are the treatments for Diabetes, Heart Disease, and Stroke ?","Treatment for heart disease includes meal planning to ensure a heart-healthy diet and physical activity. In addition, you may need medications to treat heart damage or to lower your blood glucose, blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure. + +For additional information about heart and blood vessel disease, high blood pressure, and high cholesterol, call the National Heart, Lung, and Blood Institute Health Information Center at 3015928573 or see www.nhlbi.nih.gov on the Internet.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What are the treatments for Diabetes, Heart Disease, and Stroke ?","At the first sign of a stroke, you should get medical care right away. If blood vessels to your brain are blocked by blood clots, the doctor can give you a ""clot-busting"" drug. The drug must be given soon after a stroke to be effective. Subsequent treatment for stroke includes medications and physical therapy, as well as surgery to repair the damage. Meal planning and physical activity may be part of your ongoing care. In addition, you may need medications to lower your blood glucose, blood pressure, and cholesterol and to prevent blood clots. + +For additional information about strokes, call the National Institute of Neurological Disorders and Stroke at 18003529424 or see www.ninds.nih.gov on the Internet.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What to do for Diabetes, Heart Disease, and Stroke ?","- If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. - If you have any warning signs of a heart attack or a stroke, get medical care immediatelydon't delay. Early treatment of heart attack and stroke in a hospital emergency room can reduce damage to the heart and the brain.",NIDDK,"Diabetes, Heart Disease, and Stroke" +"What to do for Diabetes, Heart Disease, and Stroke ?","- If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. - If you have any warning signs of a heart attack or a stroke, get medical care immediatelydon't delay. Early treatment of heart attack and stroke in a hospital emergency room can reduce damage to the heart and the brain.",NIDDK,"Diabetes, Heart Disease, and Stroke" +What is (are) What I need to know about My Child's Urinary Tract Infection ?,"A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscope. Bacteria * are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are quickly removed by the body before they cause symptoms. But sometimes bacteria overcome the bodys natural defenses and cause infection. + +*See the Pronunciation Guide for tips on how to say the underlined words.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What causes What I need to know about My Child's Urinary Tract Infection ?,"Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. The bacterium Escherichia coli (E. coli) causes most UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. The bodys natural defenses also prevent infection. But despite these safeguards, infections still occur. + +Other factors that may cause a child to get a UTI include the following: + +- Waiting to urinate. Regular urination helps flush away bacteria. Holding urine allows bacteria to grow. - Making too little urine. A child that doesnt drink enough fluids may not make enough urine to flush away bacteria. - Constipation. Constipation is a condition in which a child has fewer than two bowel movements a week. Stools can be hard, dry, small, and difficult to pass. The hard stool in the bowel may press against the urinary tract and block the flow of urine, allowing bacteria to grow. + +Some children are just more prone to UTIs than others, just as some children are more prone to getting coughs, colds, or ear infections.",NIDDK,What I need to know about My Child's Urinary Tract Infection +Who is at risk for What I need to know about My Child's Urinary Tract Infection? ?,"Any child can get a UTI, though girls get UTIs more often than boys. + +Children with a condition called vesicoureteral reflux (VUR) are at higher risk for UTIs. VUR causes urine to reflux at the point where one or both ureters attach to the bladder. When urine stays in the urinary tract, bacteria have a chance to grow and spread. Infants and young children who get a UTI often have VUR. + +Boys younger than 6 months who are not circumcised are at greater risk for a UTI than circumcised boys the same age. Boys who are circumcised have had the foreskin, which is the skin that covers the tip of the penis, removed.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What are the symptoms of What I need to know about My Child's Urinary Tract Infection ?,"A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. UTI symptoms can include + +- fever - pain or burning during urination with only a few drops of urine at a time - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, bloody, or foul-smelling urine - urinating often - pain in the back or side below the ribs - leaking urine into clothes or bedding in older children",NIDDK,What I need to know about My Child's Urinary Tract Infection +How to diagnose What I need to know about My Child's Urinary Tract Infection ?,"A UTI is diagnosed by testing a sample of your childs urine. The way the urine is collected depends on your childs age: + +The health care provider looks at the urine sample with a microscope to check for bacteria or pus. The sample is also sent to a lab. The lab performs a urine culture by placing the sample in a tube or dish with a substance that encourages any bacteria present to grow. The bacteria that grow can be identified and tested to see which medicines will work best to treat the infection. A urine culture usually takes 1 to 3 days to complete.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What are the treatments for What I need to know about My Child's Urinary Tract Infection ?,"Bacteria-fighting medicines called antibiotics are used to treat a UTI. While the lab is doing the urine culture, the health care provider may begin treatment with an antibiotic that treats the bacteria most likely to be causing the infection. Once culture results are known, the health care provider may switch your child to a different antibiotic that targets the specific type of bacteria. + +Your child will need to take antibiotics for at least 3 to 5 days and maybe as long as several weeks. Be sure your child takes every pill or every dose of liquid. Your child should feel better after a couple of days, but the infection might come back if your child stops taking the antibiotic too early. + +You should let your child drink as much as your child wants. But dont force your child to drink large amounts of fluid. Call your childs health care provider if your child doesnt want to or isnt able to drink. Also, talk with your childs health care provider if your child needs medicine for the pain of a UTI. The health care provider can recommend an over-the-counter pain medicine. A heating pad on the back or abdomen may also help.",NIDDK,What I need to know about My Child's Urinary Tract Infection +How to diagnose What I need to know about My Child's Urinary Tract Infection ?,"Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for VUR or a blockage in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of infection. VUR and blockages in the urinary tract often go away as a child grows. In some cases, surgery may be needed to correct any defects in the urinary tract. More information about tests for VUR or a blockage in the urinary tract is provided in the NIDDK health topic, Urinary Tract Infections in Children.",NIDDK,What I need to know about My Child's Urinary Tract Infection +How to prevent What I need to know about My Child's Urinary Tract Infection ?,"You can take the following steps to help prevent your child from getting a UTI: + +- Teach your child not to hold in urine and to go to the bathroom whenever your child feels the urge. - Teach your child how to properly clean himself or herself after using the bathroom to keep bacteria from entering the urinary tract. - Have your child wear loose-fitting clothes. Tight clothes can trap moisture, which allows bacteria to grow. - Buy your child cotton underwear. Cotton lets in air to dry the area. - If your child has constipation, talk with a health care provider about the best treatment options.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What to do for What I need to know about My Child's Urinary Tract Infection ?,"To help prevent a UTI, make sure your child drinks enough fluids each day. Talk with your childs health care provider to find out how much fluid your child should drink.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What to do for What I need to know about My Child's Urinary Tract Infection ?,"- A urinary tract infection (UTI) is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscope. - Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. - Any child can get a UTI, though girls get UTIs more often than boys. - Most UTIs are not serious, but some infections can lead to serious problems. - A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. - A UTI is diagnosed by testing a sample of your childs urine. - Bacteria-fighting medicines called antibiotics are used to treat a UTI. - Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for vesicoureteral reflux (VUR) or a blockage in the urinary tract. - You can take steps to help prevent your child from getting a UTI.",NIDDK,What I need to know about My Child's Urinary Tract Infection +What is (are) Hypoglycemia ?,"Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods. + +After a meal, glucose is absorbed into the bloodstream and carried to the body's cells. Insulin, a hormone made by the pancreas, helps the cells use glucose for energy. If a person takes in more glucose than the body needs at the time, the body stores the extra glucose in the liver and muscles in a form called glycogen. The body can use glycogen for energy between meals. Extra glucose can also be changed to fat and stored in fat cells. Fat can also be used for energy. + +When blood glucose begins to fall, glucagonanother hormone made by the pancreassignals the liver to break down glycogen and release glucose into the bloodstream. Blood glucose will then rise toward a normal level. In some people with diabetes, this glucagon response to hypoglycemia is impaired and other hormones such as epinephrine, also called adrenaline, may raise the blood glucose level. But with diabetes treated with insulin or pills that increase insulin production, glucose levels can't easily return to the normal range. + +Hypoglycemia can happen suddenly. It is usually mild and can be treated quickly and easily by eating or drinking a small amount of glucose-rich food. If left untreated, hypoglycemia can get worse and cause confusion, clumsiness, or fainting. Severe hypoglycemia can lead to seizures, coma, and even death. + +In adults and children older than 10 years, hypoglycemia is uncommon except as a side effect of diabetes treatment. Hypoglycemia can also result, however, from other medications or diseases, hormone or enzyme deficiencies, or tumors.",NIDDK,Hypoglycemia +What is (are) Hypoglycemia ?,"Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods. + +After a meal, glucose is absorbed into the bloodstream and carried to the body's cells. Insulin, a hormone made by the pancreas, helps the cells use glucose for energy. If a person takes in more glucose than the body needs at the time, the body stores the extra glucose in the liver and muscles in a form called glycogen. The body can use glycogen for energy between meals. Extra glucose can also be changed to fat and stored in fat cells. Fat can also be used for energy. + +When blood glucose begins to fall, glucagonanother hormone made by the pancreassignals the liver to break down glycogen and release glucose into the bloodstream. Blood glucose will then rise toward a normal level. In some people with diabetes, this glucagon response to hypoglycemia is impaired and other hormones such as epinephrine, also called adrenaline, may raise the blood glucose level. But with diabetes treated with insulin or pills that increase insulin production, glucose levels can't easily return to the normal range. + +Hypoglycemia can happen suddenly. It is usually mild and can be treated quickly and easily by eating or drinking a small amount of glucose-rich food. If left untreated, hypoglycemia can get worse and cause confusion, clumsiness, or fainting. Severe hypoglycemia can lead to seizures, coma, and even death. + +In adults and children older than 10 years, hypoglycemia is uncommon except as a side effect of diabetes treatment. Hypoglycemia can also result, however, from other medications or diseases, hormone or enzyme deficiencies, or tumors.",NIDDK,Hypoglycemia +What are the symptoms of Hypoglycemia ?,"Hypoglycemia causes symptoms such as + +- hunger - shakiness - nervousness - sweating - dizziness or light-headedness - sleepiness - confusion - difficulty speaking - anxiety - weakness + +Hypoglycemia can also happen during sleep. Some signs of hypoglycemia during sleep include + +- crying out or having nightmares - finding pajamas or sheets damp from perspiration - feeling tired, irritable, or confused after waking up",NIDDK,Hypoglycemia +What are the symptoms of Hypoglycemia ?,"Hypoglycemia causes symptoms such as + +- hunger - shakiness - nervousness - sweating - dizziness or light-headedness - sleepiness - confusion - difficulty speaking - anxiety - weakness + +Hypoglycemia can also happen during sleep. Some signs of hypoglycemia during sleep include + +- crying out or having nightmares - finding pajamas or sheets damp from perspiration - feeling tired, irritable, or confused after waking up",NIDDK,Hypoglycemia +What causes Hypoglycemia ?,"Diabetes Medications + +Hypoglycemia can occur as a side effect of some diabetes medications, including insulin and oral diabetes medicationspillsthat increase insulin production, such as + +- chlorpropamide (Diabinese) - glimepiride (Amaryl) - glipizide (Glucotrol, Glucotrol XL) - glyburide (DiaBeta, Glynase, Micronase) - nateglinide (Starlix) - repaglinide (Prandin) - sitagliptin (Januvia) - tolazamide - tolbutamide + +Certain combination pills can also cause hypoglycemia, including + +- glipizide + metformin (Metaglip) - glyburide + metformin (Glucovance) - pioglitazone + glimepiride (Duetact) - rosiglitazone + glimepiride (Avandaryl) - sitagliptin + metformin (Janumet) + +Other types of diabetes pills, when taken alone, do not cause hypoglycemia. Examples of these medications are + +- acarbose (Precose) - metformin (Glucophage) - miglitol (Glyset) - pioglitazone (Actos) - rosiglitazone (Avandia) + +However, taking these pills along with other diabetes medicationsinsulin, pills that increase insulin production, or bothincreases the risk of hypoglycemia. + +In addition, use of the following injectable medications can cause hypoglycemia: + +- Pramlintide (Symlin), which is used along with insulin - Exenatide (Byetta), which can cause hypoglycemia when used in combination with chlorpropamide, glimepiride, glipizide, glyburide, tolazamide, and tolbutamide + +More information about diabetes medications is provided in the NIDDK health topic, What I need to know about Diabetes Medicines, or by calling 18008608747. + +Other Causes of Hypoglycemia + +In people on insulin or pills that increase insulin production, low blood glucose can be due to + +- meals or snacks that are too small, delayed, or skipped - increased physical activity - alcoholic beverages",NIDDK,Hypoglycemia +What causes Hypoglycemia ?,"Diabetes Medications + +Hypoglycemia can occur as a side effect of some diabetes medications, including insulin and oral diabetes medicationspillsthat increase insulin production, such as + +- chlorpropamide (Diabinese) - glimepiride (Amaryl) - glipizide (Glucotrol, Glucotrol XL) - glyburide (DiaBeta, Glynase, Micronase) - nateglinide (Starlix) - repaglinide (Prandin) - sitagliptin (Januvia) - tolazamide - tolbutamide + +Certain combination pills can also cause hypoglycemia, including + +- glipizide + metformin (Metaglip) - glyburide + metformin (Glucovance) - pioglitazone + glimepiride (Duetact) - rosiglitazone + glimepiride (Avandaryl) - sitagliptin + metformin (Janumet) + +Other types of diabetes pills, when taken alone, do not cause hypoglycemia. Examples of these medications are + +- acarbose (Precose) - metformin (Glucophage) - miglitol (Glyset) - pioglitazone (Actos) - rosiglitazone (Avandia) + +However, taking these pills along with other diabetes medicationsinsulin, pills that increase insulin production, or bothincreases the risk of hypoglycemia. + +In addition, use of the following injectable medications can cause hypoglycemia: + +- Pramlintide (Symlin), which is used along with insulin - Exenatide (Byetta), which can cause hypoglycemia when used in combination with chlorpropamide, glimepiride, glipizide, glyburide, tolazamide, and tolbutamide + +More information about diabetes medications is provided in the NIDDK health topic, What I need to know about Diabetes Medicines, or by calling 18008608747. + +Other Causes of Hypoglycemia + +In people on insulin or pills that increase insulin production, low blood glucose can be due to + +- meals or snacks that are too small, delayed, or skipped - increased physical activity - alcoholic beverages",NIDDK,Hypoglycemia +How to prevent Hypoglycemia ?,"Diabetes treatment plans are designed to match the dose and timing of medication to a person's usual schedule of meals and activities. Mismatches could result in hypoglycemia. For example, taking a dose of insulinor other medication that increases insulin levelsbut then skipping a meal could result in hypoglycemia. + +To help prevent hypoglycemia, people with diabetes should always consider the following: + +- Their diabetes medications. A health care provider can explain which diabetes medications can cause hypoglycemia and explain how and when to take medications. For good diabetes management, people with diabetes should take diabetes medications in the recommended doses at the recommended times. In some cases, health care providers may suggest that patients learn how to adjust medications to match changes in their schedule or routine. - Their meal plan. A registered dietitian can help design a meal plan that fits one's personal preferences and lifestyle. Following one's meal plan is important for managing diabetes. People with diabetes should eat regular meals, have enough food at each meal, and try not to skip meals or snacks. Snacks are particularly important for some people before going to sleep or exercising. Some snacks may be more effective than others in preventing hypoglycemia overnight. The dietitian can make recommendations for snacks. - Their daily activity. To help prevent hypoglycemia caused by physical activity, health care providers may advise - checking blood glucose before sports, exercise, or other physical activity and having a snack if the level is below 100 milligrams per deciliter (mg/dL) - adjusting medication before physical activity - checking blood glucose at regular intervals during extended periods of physical activity and having snacks as needed - checking blood glucose periodically after physical activity - Their use of alcoholic beverages. Drinking alcoholic beverages, especially on an empty stomach, can cause hypoglycemia, even a day or two later. Heavy drinking can be particularly dangerous for people taking insulin or medications that increase insulin production. Alcoholic beverages should always be consumed with a snack or meal at the same time. A health care provider can suggest how to safely include alcohol in a meal plan. - Their diabetes management plan. Intensive diabetes managementkeeping blood glucose as close to the normal range as possible to prevent long-term complicationscan increase the risk of hypoglycemia. Those whose goal is tight control should talk with a health care provider about ways to prevent hypoglycemia and how best to treat it if it occurs. + +What to Ask the Doctor about Diabetes Medications + +People who take diabetes medications should ask their doctor or health care provider + +- whether their diabetes medications could cause hypoglycemia - when they should take their diabetes medications - how much medication they should take - whether they should keep taking their diabetes medications when they are sick - whether they should adjust their medications before physical activity - whether they should adjust their medications if they skip a meal",NIDDK,Hypoglycemia +What are the treatments for Hypoglycemia ?,"Signs and symptoms of hypoglycemia vary from person to person. People with diabetes should get to know their signs and symptoms and describe them to their friends and family so they can help if needed. School staff should be told how to recognize a child's signs and symptoms of hypoglycemia and how to treat it. + +People who experience hypoglycemia several times in a week should call their health care provider. They may need a change in their treatment plan: less medication or a different medication, a new schedule for insulin or medication, a different meal plan, or a new physical activity plan. + +Prompt Treatment for Hypoglycemia + +When people think their blood glucose is too low, they should check the blood glucose level of a blood sample using a meter. If the level is below 70 mg/dL, one of these quick-fix foods should be consumed right away to raise blood glucose: + +- 3 or 4 glucose tablets - 1 serving of glucose gelthe amount equal to 15 grams of carbohydrate - 1/2 cup, or 4 ounces, of any fruit juice - 1/2 cup, or 4 ounces, of a regularnot dietsoft drink - 1 cup, or 8 ounces, of milk - 5 or 6 pieces of hard candy - 1 tablespoon of sugar or honey + +Recommended amounts may be less for small children. The child's doctor can advise about the right amount to give a child. + +The next step is to recheck blood glucose in 15 minutes to make sure it is 70 mg/dL or above. If it's still too low, another serving of a quick-fix food should be eaten. These steps should be repeated until the blood glucose level is 70 mg/dL or above. If the next meal is an hour or more away, a snack should be eaten once the quick-fix foods have raised the blood glucose level to 70 mg/dL or above. + +For People Who Take Acarbose (Precose) or Miglitol (Glyset) + +People who take either of these diabetes medications should know that only pure glucose, also called dextroseavailable in tablet or gel formwill raise their blood glucose level during a low blood glucose episode. Other quick-fix foods and drinks won't raise the level quickly enough because acarbose and miglitol slow the digestion of other forms of carbohydrate. + +Help from Others for Severe Hypoglycemia + +Severe hypoglycemiavery low blood glucosecan cause a person to pass out and can even be life threatening. Severe hypoglycemia is more likely to occur in people with type 1 diabetes. People should ask a health care provider what to do about severe hypoglycemia. Another person can help someone who has passed out by giving an injection of glucagon. Glucagon will rapidly bring the blood glucose level back to normal and help the person regain consciousness. A health care provider can prescribe a glucagon emergency kit. Family, friends, or coworkersthe people who will be around the person at risk of hypoglycemiacan learn how to give a glucagon injection and when to call 911 or get medical help. + +Physical Activity and Blood Glucose Levels + +Physical activity has many benefits for people with diabetes, including lowering blood glucose levels. However, physical activity can make levels too low and can cause hypoglycemia up to 24 hours afterward. A health care provider can advise about checking the blood glucose level before exercise. For those who take insulin or one of the oral medications that increase insulin production, the health care provider may suggest having a snack if the glucose level is below 100 mg/dL or adjusting medication doses before physical activity to help avoid hypoglycemia. A snack can prevent hypoglycemia. The health care provider may suggest extra blood glucose checks, especially after strenuous exercise. + +Hypoglycemia When Driving + +Hypoglycemia is particularly dangerous if it happens to someone who is driving. People with hypoglycemia may have trouble concentrating or seeing clearly behind the wheel and may not be able to react quickly to road hazards or to the actions of other drivers. To prevent problems, people at risk for hypoglycemia should check their blood glucose level before driving. During longer trips, they should check their blood glucose level frequently and eat snacks as needed to keep the level at 70 mg/dL or above. If necessary, they should stop for treatment and then make sure their blood glucose level is 70 mg/dL or above before starting to drive again. + +Hypoglycemia Unawareness + +Some people with diabetes do not have early warning signs of low blood glucose, a condition called hypoglycemia unawareness. This condition occurs most often in people with type 1 diabetes, but it can also occur in people with type 2 diabetes. People with hypoglycemia unawareness may need to check their blood glucose level more often so they know when hypoglycemia is about to occur. They also may need a change in their medications, meal plan, or physical activity routine. + +Hypoglycemia unawareness develops when frequent episodes of hypoglycemia lead to changes in how the body reacts to low blood glucose levels. The body stops releasing the hormone epinephrine and other stress hormones when blood glucose drops too low. The loss of the body's ability to release stress hormones after repeated episodes of hypoglycemia is called hypoglycemia-associated autonomic failure, or HAAF. + +Epinephrine causes early warning symptoms of hypoglycemia such as shakiness, sweating, anxiety, and hunger. Without the release of epinephrine and the symptoms it causes, a person may not realize that hypoglycemia is occurring and may not take action to treat it. A vicious cycle can occur in which frequent hypoglycemia leads to hypoglycemia unawareness and HAAF, which in turn leads to even more severe and dangerous hypoglycemia. Studies have shown that preventing hypoglycemia for a period as short as several weeks can sometimes break this cycle and restore awareness of symptoms. Health care providers may therefore advise people who have had severe hypoglycemia to aim for higher-than-usual blood glucose targets for short-term periods. + +Being Prepared for Hypoglycemia + +People who use insulin or take an oral diabetes medication that can cause low blood glucose should always be prepared to prevent and treat low blood glucose by + +- learning what can trigger low blood glucose levels - having their blood glucose meter available to test glucose levels; frequent testing may be critical for those with hypoglycemia unawareness, particularly before driving a car or engaging in any hazardous activity - always having several servings of quick-fix foods or drinks handy - wearing a medical identification bracelet or necklace - planning what to do if they develop severe hypoglycemia - telling their family, friends, and coworkers about the symptoms of hypoglycemia and how they can help if needed + +Normal and Target Blood Glucose Ranges Normal Blood Glucose Levels in People Who Do Not Have Diabetes Upon wakingfasting 70 to 99 mg/dL After meals 70 to 140 mg/dL Target Blood Glucose Levels in People Who Have Diabetes Before meals 70 to 130 mg/dL 1 to 2 hours after the start of a meal below 180 mg/dL + +For people with diabetes, a blood glucose level below 70 mg/dL is considered hypoglycemia.",NIDDK,Hypoglycemia +What are the treatments for Hypoglycemia ?,"Signs and symptoms of hypoglycemia vary from person to person. People with diabetes should get to know their signs and symptoms and describe them to their friends and family so they can help if needed. School staff should be told how to recognize a child's signs and symptoms of hypoglycemia and how to treat it. + +People who experience hypoglycemia several times in a week should call their health care provider. They may need a change in their treatment plan: less medication or a different medication, a new schedule for insulin or medication, a different meal plan, or a new physical activity plan. + +Prompt Treatment for Hypoglycemia + +When people think their blood glucose is too low, they should check the blood glucose level of a blood sample using a meter. If the level is below 70 mg/dL, one of these quick-fix foods should be consumed right away to raise blood glucose: + +- 3 or 4 glucose tablets - 1 serving of glucose gelthe amount equal to 15 grams of carbohydrate - 1/2 cup, or 4 ounces, of any fruit juice - 1/2 cup, or 4 ounces, of a regularnot dietsoft drink - 1 cup, or 8 ounces, of milk - 5 or 6 pieces of hard candy - 1 tablespoon of sugar or honey + +Recommended amounts may be less for small children. The child's doctor can advise about the right amount to give a child. + +The next step is to recheck blood glucose in 15 minutes to make sure it is 70 mg/dL or above. If it's still too low, another serving of a quick-fix food should be eaten. These steps should be repeated until the blood glucose level is 70 mg/dL or above. If the next meal is an hour or more away, a snack should be eaten once the quick-fix foods have raised the blood glucose level to 70 mg/dL or above. + +For People Who Take Acarbose (Precose) or Miglitol (Glyset) + +People who take either of these diabetes medications should know that only pure glucose, also called dextroseavailable in tablet or gel formwill raise their blood glucose level during a low blood glucose episode. Other quick-fix foods and drinks won't raise the level quickly enough because acarbose and miglitol slow the digestion of other forms of carbohydrate. + +Help from Others for Severe Hypoglycemia + +Severe hypoglycemiavery low blood glucosecan cause a person to pass out and can even be life threatening. Severe hypoglycemia is more likely to occur in people with type 1 diabetes. People should ask a health care provider what to do about severe hypoglycemia. Another person can help someone who has passed out by giving an injection of glucagon. Glucagon will rapidly bring the blood glucose level back to normal and help the person regain consciousness. A health care provider can prescribe a glucagon emergency kit. Family, friends, or coworkersthe people who will be around the person at risk of hypoglycemiacan learn how to give a glucagon injection and when to call 911 or get medical help. + +Physical Activity and Blood Glucose Levels + +Physical activity has many benefits for people with diabetes, including lowering blood glucose levels. However, physical activity can make levels too low and can cause hypoglycemia up to 24 hours afterward. A health care provider can advise about checking the blood glucose level before exercise. For those who take insulin or one of the oral medications that increase insulin production, the health care provider may suggest having a snack if the glucose level is below 100 mg/dL or adjusting medication doses before physical activity to help avoid hypoglycemia. A snack can prevent hypoglycemia. The health care provider may suggest extra blood glucose checks, especially after strenuous exercise. + +Hypoglycemia When Driving + +Hypoglycemia is particularly dangerous if it happens to someone who is driving. People with hypoglycemia may have trouble concentrating or seeing clearly behind the wheel and may not be able to react quickly to road hazards or to the actions of other drivers. To prevent problems, people at risk for hypoglycemia should check their blood glucose level before driving. During longer trips, they should check their blood glucose level frequently and eat snacks as needed to keep the level at 70 mg/dL or above. If necessary, they should stop for treatment and then make sure their blood glucose level is 70 mg/dL or above before starting to drive again. + +Hypoglycemia Unawareness + +Some people with diabetes do not have early warning signs of low blood glucose, a condition called hypoglycemia unawareness. This condition occurs most often in people with type 1 diabetes, but it can also occur in people with type 2 diabetes. People with hypoglycemia unawareness may need to check their blood glucose level more often so they know when hypoglycemia is about to occur. They also may need a change in their medications, meal plan, or physical activity routine. + +Hypoglycemia unawareness develops when frequent episodes of hypoglycemia lead to changes in how the body reacts to low blood glucose levels. The body stops releasing the hormone epinephrine and other stress hormones when blood glucose drops too low. The loss of the body's ability to release stress hormones after repeated episodes of hypoglycemia is called hypoglycemia-associated autonomic failure, or HAAF. + +Epinephrine causes early warning symptoms of hypoglycemia such as shakiness, sweating, anxiety, and hunger. Without the release of epinephrine and the symptoms it causes, a person may not realize that hypoglycemia is occurring and may not take action to treat it. A vicious cycle can occur in which frequent hypoglycemia leads to hypoglycemia unawareness and HAAF, which in turn leads to even more severe and dangerous hypoglycemia. Studies have shown that preventing hypoglycemia for a period as short as several weeks can sometimes break this cycle and restore awareness of symptoms. Health care providers may therefore advise people who have had severe hypoglycemia to aim for higher-than-usual blood glucose targets for short-term periods. + +Being Prepared for Hypoglycemia + +People who use insulin or take an oral diabetes medication that can cause low blood glucose should always be prepared to prevent and treat low blood glucose by + +- learning what can trigger low blood glucose levels - having their blood glucose meter available to test glucose levels; frequent testing may be critical for those with hypoglycemia unawareness, particularly before driving a car or engaging in any hazardous activity - always having several servings of quick-fix foods or drinks handy - wearing a medical identification bracelet or necklace - planning what to do if they develop severe hypoglycemia - telling their family, friends, and coworkers about the symptoms of hypoglycemia and how they can help if needed + +Normal and Target Blood Glucose Ranges Normal Blood Glucose Levels in People Who Do Not Have Diabetes Upon wakingfasting 70 to 99 mg/dL After meals 70 to 140 mg/dL Target Blood Glucose Levels in People Who Have Diabetes Before meals 70 to 130 mg/dL 1 to 2 hours after the start of a meal below 180 mg/dL + +For people with diabetes, a blood glucose level below 70 mg/dL is considered hypoglycemia.",NIDDK,Hypoglycemia +What to do for Hypoglycemia ?,"Two types of hypoglycemia can occur in people who do not have diabetes: + +- Reactive hypoglycemia, also called postprandial hypoglycemia, occurs within 4 hours after meals. - Fasting hypoglycemia, also called postabsorptive hypoglycemia, is often related to an underlying disease. + +Symptoms of both reactive and fasting hypoglycemia are similar to diabetes-related hypoglycemia. Symptoms may include hunger, sweating, shakiness, dizziness, light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness. + +To find the cause of a patient's hypoglycemia, the doctor will use laboratory tests to measure blood glucose, insulin, and other chemicals that play a part in the body's use of energy. + +Reactive Hypoglycemia + +Diagnosis + +To diagnose reactive hypoglycemia, the doctor may + +- ask about signs and symptoms - test blood glucose while the patient is having symptoms by taking a blood sample from the arm and sending it to a laboratory for analysis* - check to see whether the symptoms ease after the patient's blood glucose returns to 70 mg/dL or above after eating or drinking + +A blood glucose level below 70 mg/dL at the time of symptoms and relief after eating will confirm the diagnosis. The oral glucose tolerance test is no longer used to diagnose reactive hypoglycemia because experts now know the test can actually trigger hypoglycemic symptoms. + +Causes and Treatment + +The causes of most cases of reactive hypoglycemia are still open to debate. Some researchers suggest that certain people may be more sensitive to the body's normal release of the hormone epinephrine, which causes many of the symptoms of hypoglycemia. Others believe deficiencies in glucagon secretion might lead to reactive hypoglycemia. + +A few causes of reactive hypoglycemia are certain, but they are uncommon. Gastricor stomachsurgery can cause reactive hypoglycemia because of the rapid passage of food into the small intestine. Rare enzyme deficiencies diagnosed early in life, such as hereditary fructose intolerance, also may cause reactive hypoglycemia. + +To relieve reactive hypoglycemia, some health professionals recommend + +- eating small meals and snacks about every 3 hours - being physically active - eating a variety of foods, including meat, poultry, fish, or nonmeat sources of protein; starchy foods such as whole-grain bread, rice, and potatoes; fruits; vegetables; and dairy products - eating foods high in fiber - avoiding or limiting foods high in sugar, especially on an empty stomach + +The doctor can refer patients to a registered dietitian for personalized meal planning advice. Although some health professionals recommend a diet high in protein and low in carbohydrates, studies have not proven the effectiveness of this kind of diet to treat reactive hypoglycemia. + +Fasting Hypoglycemia + +Diagnosis + +Fasting hypoglycemia is diagnosed from a blood sample that shows a blood glucose level below 50 mg/dL after an overnight fast, between meals, or after physical activity. + +Causes and Treatment + +Causes of fasting hypoglycemia include certain medications, alcoholic beverages, critical illnesses, hormonal deficiencies, some kinds of tumors, and certain conditions occurring in infancy and childhood. + +Medications. Medications, including some used to treat diabetes, are the most common cause of hypoglycemia. Other medications that can cause hypoglycemia include + +- salicylates, including aspirin, when taken in large doses - sulfa medications, which are used to treat bacterial infections - pentamidine, which treats a serious kind of pneumonia - quinine, which is used to treat malaria + +If using any of these medications causes a person's blood glucose level to fall, the doctor may advise stopping the medication or changing the dose. + +Alcoholic beverages. Drinking alcoholic beverages, especially binge drinking, can cause hypoglycemia. The body's breakdown of alcohol interferes with the liver's efforts to raise blood glucose. Hypoglycemia caused by excessive drinking can be serious and even fatal. + +Critical illnesses. Some illnesses that affect the liver, heart, or kidneys can cause hypoglycemia. Sepsis, which is an overwhelming infection, and starvation are other causes of hypoglycemia. In these cases, treating the illness or other underlying cause will correct the hypoglycemia. + +Hormonal deficiencies. Hormonal deficiencies may cause hypoglycemia in very young children, but rarely in adults. Shortages of cortisol, growth hormone, glucagon, or epinephrine can lead to fasting hypoglycemia. Laboratory tests for hormone levels will determine a diagnosis and treatment. Hormone replacement therapy may be advised. + +Tumors. Insulinomas are insulin-producing tumors in the pancreas. Insulinomas can cause hypoglycemia by raising insulin levels too high in relation to the blood glucose level. These tumors are rare and do not normally spread to other parts of the body. Laboratory tests can pinpoint the exact cause. Treatment involves both short-term steps to correct the hypoglycemia and medical or surgical measures to remove the tumor. + +Conditions occurring in infancy and childhood. Children rarely develop hypoglycemia. If they do, causes may include the following: + +- Brief intolerance to fasting, often during an illness that disturbs regular eating patterns. Children usually outgrow this tendency by age 10. - Hyperinsulinism, which is the overproduction of insulin. This condition can result in temporary hypoglycemia in newborns, which is common in infants of mothers with diabetes. Persistent hyperinsulinism in infants or children is a complex disorder that requires prompt evaluation and treatment by a specialist. - Enzyme deficiencies that affect carbohydrate metabolism. These deficiencies can interfere with the body's ability to process natural sugars, such as fructose and galactose, glycogen, or other metabolites. - Hormonal deficiencies such as lack of pituitary or adrenal hormones. + + + +*A personal blood glucose monitor cannot be used to diagnose reactive hypoglycemia.",NIDDK,Hypoglycemia +What to do for Hypoglycemia ?,"Diabetes-related Hypoglycemia + +- When people with diabetes think their blood glucose level is low, they should check it and treat the problem right away. - To treat hypoglycemia, people should have a serving of a quick-fix food, wait 15 minutes, and check their blood glucose again. They should repeat the treatment until their blood glucose is 70 mg/dL or above. - People at risk for hypoglycemia should keep quick-fix foods in the car, at workanywhere they spend time. - People at risk for hypoglycemia should be careful when driving. They should check their blood glucose frequently and snack as needed to keep their level 70 mg/dL or above. + +Hypoglycemia Unrelated to Diabetes + +- In reactive hypoglycemia, symptoms occur within 4 hours of eating. People with reactive hypoglycemia are usually advised to follow a healthy eating plan recommended by a registered dietitian. - Fasting hypoglycemia can be caused by certain medications, critical illnesses, hereditary enzyme or hormonal deficiencies, and some kinds of tumors. Treatment targets the underlying problem.",NIDDK,Hypoglycemia +What is (are) Overview of Kidney Disease in Children ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The kidneys work around the clock; a person does not control what they do. Ureters are the thin tubes of muscleone on each side of the bladderthat carry urine from each of the kidneys to the bladder. The bladder stores urine until the person finds an appropriate time and place to urinate. + +The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called a glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which changes the fluid by sending needed minerals back to the bloodstream and removing wastes. The final product becomes urine. + +The kidneys also control the level of minerals such as sodium, phosphorus, and potassium in the body, and produce an important hormone to prevent anemia. Anemia is a condition in which the number of red blood cells is less than normal, resulting in less oxygen carried to the bodys cells.",NIDDK,Overview of Kidney Disease in Children +What causes Overview of Kidney Disease in Children ?,"Kidney disease in children can be caused by + +- birth defects - hereditary diseases - infection - nephrotic syndrome - systemic diseases - trauma - urine blockage or reflux + +From birth to age 4, birth defects and hereditary diseases are the leading causes of kidney failure. Between ages 5 and 14, kidney failure is most commonly caused by hereditary diseases, nephrotic syndrome, and systemic diseases. Between ages 15 and 19, diseases that affect the glomeruli are the leading cause of kidney failure, and hereditary diseases become less common.1 + +Birth Defects + +A birth defect is a problem that happens while a baby is developing in the mothers womb. Birth defects that affect the kidneys include renal agenesis, renal dysplasia, and ectopic kidney, to name a few. These defects are abnormalities of size, structure, or position of the kidneys: + +- renal agenesischildren born with only one kidney - renal dysplasiachildren born with both kidneys, yet one does not function - ectopic kidneychildren born with a kidney that is located below, above, or on the opposite side of its usual position + +In general, children with these conditions lead full, healthy lives. However, some children with renal agenesis or renal dysplasia are at increased risk for developing kidney disease. + +Hereditary Diseases + +Hereditary kidney diseases are illnesses passed from parent to child through the genes. One example is polycystic kidney disease (PKD), characterized by many grapelike clusters of fluid-filled cystsabnormal sacsthat make both kidneys larger over time. These cysts take over and destroy working kidney tissue. Another hereditary disease is Alport syndrome, which is caused by a mutation in a gene for a type of protein called collagen that makes up the glomeruli. The condition leads to scarring of the kidneys. Alport syndrome generally develops in early childhood and is more serious in boys than in girls. The condition can lead to hearing and vision problems in addition to kidney disease. + +Infection + +Hemolytic uremic syndrome and acute post-streptococcal glomerulonephritis are kidney diseases that can develop in a child after an infection. + +- Hemolytic uremic syndrome is a rare disease that is often caused by the Escherichia coli (E. coli) bacterium found in contaminated foods, such as meat, dairy products, and juice. Hemolytic uremic syndrome develops when E. coli bacteria lodged in the digestive tract make toxins that enter the bloodstream. The toxins start to destroy red blood cells and damage the lining of the blood vessels, including the glomeruli. Most children who get an E. coli infection have vomiting, stomach cramps, and bloody diarrhea for 2 to 3 days. Children who develop hemolytic uremic syndrome become pale, tired, and irritable. Hemolytic uremic syndrome can lead to kidney failure in some children. - Post-streptococcal glomerulonephritis can occur after an episode of strep throat or a skin infection. The Streptococcus bacterium does not attack the kidneys directly; instead, the infection may stimulate the immune system to overproduce antibodies. Antibodies are proteins made by the immune system. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. When the extra antibodies circulate in the blood and finally deposit in the glomeruli, the kidneys can be damaged. Most cases of post-streptococcal glomerulonephritis develop 1 to 3 weeks after an untreated infection, though it may be as long as 6 weeks. Post-streptococcal glomerulonephritis lasts only a brief time and the kidneys usually recover. In a few cases, kidney damage may be permanent. + +Nephrotic Syndrome + +Nephrotic syndrome is a collection of symptoms that indicate kidney damage. Nephrotic syndrome includes all of the following conditions: + +- albuminuriawhen a persons urine contains an elevated level of albumin, a protein typically found in the blood - hyperlipidemiahigher-than-normal fat and cholesterol levels in the blood - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - hypoalbuminemialow levels of albumin in the blood + +Nephrotic syndrome in children can be caused by the following conditions: + +- Minimal change disease is a condition characterized by damage to the glomeruli that can be seen only with an electron microscope, which shows tiny details better than any other type of microscope. The cause of minimal change disease is unknown; some health care providers think it may occur after allergic reactions, vaccinations, and viral infections. - Focal segmental glomerulosclerosis is scarring in scattered regions of the kidney, typically limited to a small number of glomeruli. - Membranoproliferative glomerulonephritis is a group of autoimmune diseases that cause antibodies to build up on a membrane in the kidney. Autoimmune diseases cause the bodys immune system to attack the bodys own cells and organs. + +Systemic Diseases + +Systemic diseases, such as systemic lupus erythematosus (SLE or lupus) and diabetes, involve many organs or the whole body, including the kidneys: + +- Lupus nephritis is kidney inflammation caused by SLE, which is an autoimmune disease. - Diabetes leads to elevated levels of blood glucose, also called blood sugar, which scar the kidneys and increase the speed at which blood flows into the kidneys. Faster blood flow strains the glomeruli, decreasing their ability to filter blood, and raises blood pressure. Kidney disease caused by diabetes is called diabetic kidney disease. While diabetes is the number one cause of kidney failure in adults, it is an uncommon cause during childhood. + +More information about systemic kidney diseases is provided in the NIDDK health topics: + +- Lupus Nephritis - Kidney Disease of Diabetes + +Trauma + +Traumas such as burns, dehydration, bleeding, injury, or surgery can cause very low blood pressure, which decreases blood flow to the kidneys. Low blood flow can result in acute kidney failure. + +Urine Blockage or Reflux + +When a blockage develops between the kidneys and the urethra, urine can back up into the kidneys and cause damage. Refluxurine flowing from the bladder up to the kidneyhappens when the valve between the bladder and the ureter does not close all the way.",NIDDK,Overview of Kidney Disease in Children +How to diagnose Overview of Kidney Disease in Children ?,"A health care provider diagnoses kidney disease in children by completing a physical exam, asking for a medical history, and reviewing signs and symptoms. To confirm diagnosis, the health care provider may order one or more of the following tests: + +Urine Tests + +Dipstick test for albumin. The presence of albumin in urine is a sign that the kidneys may be damaged. Albumin in urine can be detected with a dipstick test performed on a urine sample. The urine sample is collected in a special container in a health care providers office or a commercial facility and can be tested in the same location or sent to a lab for analysis. With a dipstick test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the persons urine sample. Patches on the dipstick change color when albumin is present in urine. + +Urine albumin-to-creatinine ratio. A more precise measurement, such as a urine albumin-to-creatinine ratio, may be necessary to confirm kidney disease. Unlike a dipstick test for albumin, a urine albumin-to-creatinine ratiothe ratio between the amount of albumin and the amount of creatinine in urineis not affected by variation in urine concentration. + +Blood test. Blood drawn in a health care providers office and sent to a lab for analysis can be tested to estimate how much blood the kidneys filter each minute, called the estimated glomerular filtration rate or eGFR. + +Imaging studies. Imaging studies provide pictures of the kidneys. The pictures help the health care provider see the size and shape of the kidneys and identify any abnormalities. + +Kidney biopsy. Kidney biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. Biopsy results show the cause of the kidney disease and extent of damage to the kidneys.",NIDDK,Overview of Kidney Disease in Children +What are the treatments for Overview of Kidney Disease in Children ?,"Treatment for kidney disease in children depends on the cause of the illness. A child may be referred to a pediatric nephrologista doctor who specializes in treating kidney diseases and kidney failure in childrenfor treatment. + +Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. Improving blood pressure can significantly slow the progression of kidney disease. The health care provider may prescribe + +- angiotensin-converting enzyme (ACE) inhibitors, which help relax blood vessels and make it easier for the heart to pump blood - angiotensin receptor blockers (ARBs), which help relax blood vessels and make it easier for the heart to pump blood - diuretics, medications that increase urine output + +Many children require two or more medications to control their blood pressure; other types of blood pressure medications may also be needed. + +As kidney function declines, children may need treatment for anemia and growth failure. Anemia is treated with a hormone called erythropoietin, which stimulates the bone marrow to produce red blood cells. Children with growth failure may need to make dietary changes and take food supplements or growth hormone injections. + +Children with kidney disease that leads to kidney failure must receive treatment to replace the work the kidneys do. The two types of treatment are dialysis and transplantation. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children. + +Birth Defects + +Children with renal agenesis or renal dysplasia should be monitored for signs of kidney damage. Treatment is not needed unless damage to the kidney occurs. More information is provided in the NIDDK health topic, Solitary Kidney. + +Ectopic kidney does not need to be treated unless it causes a blockage in the urinary tract or damage to the kidney. When a blockage is present, surgery may be needed to correct the position of the kidney for better drainage of urine. If extensive kidney damage has occurred, surgery may be needed to remove the kidney. More information is provided in the NIDDK health topic, Ectopic Kidney. + +Hereditary Diseases + +Children with PKD tend to have frequent urinary tract infections, which are treated with bacteria-fighting medications called antibiotics. PKD cannot be cured, so children with the condition receive treatment to slow the progression of kidney disease and treat the complications of PKD. More information is provided in the NIDDK health topic, Polycystic Kidney Disease. + +Alport syndrome also has no cure. Children with the condition receive treatment to slow disease progression and treat complications until the kidneys fail. More information is provided in the NIDDK health topic, Glomerular Diseases. + +Infection + +Treatment for hemolytic uremic syndrome includes maintaining normal salt and fluid levels in the body to ease symptoms and prevent further problems. A child may need a transfusion of red blood cells delivered through an intravenous (IV) tube. Some children may need dialysis for a short time to take over the work the kidneys usually do. Most children recover completely with no long-term consequences. More information is provided in the NIDDK health topic, Hemolytic Uremic Syndrome in Children. + +Children with post-streptococcal glomerulonephritis may be treated with antibiotics to destroy any bacteria that remain in the body and with medications to control swelling and high blood pressure. They may also need dialysis for a short period of time. More information about post-streptococcal glomerulonephritis is provided in the NIDDK health topic, Glomerular Diseases. + +Nephrotic Syndrome + +Nephrotic syndrome due to minimal change disease can often be successfully treated with corticosteroids. Corticosteroids decrease swelling and reduce the activity of the immune system. The dosage of the medication is decreased over time. Relapses are common; however, they usually respond to treatment. Corticosteroids are less effective in treating nephrotic syndrome due to focal segmental glomerulosclerosis or membranoproliferative glomerulonephritis. Children with these conditions may be given other immunosuppressive medications in addition to corticosteroids. Immunosuppressive medications prevent the body from making antibodies. More information is provided in the NIDDK health topic, Childhood Nephrotic Syndrome. + +Systemic Diseases + +Lupus nephritis is treated with corticosteroids and other immunosuppressive medications. A child with lupus nephritis may also be treated with blood pressure-lowering medications. In many cases, treatment is effective in completely or partially controlling lupus nephritis. More information is provided in the NIDDK health topic, Lupus Nephritis. + +Diabetic kidney disease usually takes many years to develop. Children with diabetes can prevent or slow the progression of diabetic kidney disease by taking medications to control high blood pressure and maintaining normal blood glucose levels. More information is provided in the NIDDK health topic, Kidney Disease of Diabetes. + +Trauma + +The types of trauma described above can be medically treated, though dialysis may be needed for a short time until blood flow and blood pressure return to normal. + +Urine Blockage and Reflux + +Treatment for urine blockage depends on the cause and severity of the blockage. In some cases, the blockage goes away without treatment. For children who continue to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs. More information is provided in the NIDDK health topic, Urine Blockage in Newborns. + +Treatment for reflux may include prompt treatment of urinary tract infections and long-term use of antibiotics to prevent infections until reflux goes away on its own. Surgery has also been used in certain cases. More information is provided in the NIDDK health topic, Vesicoureteral Reflux.",NIDDK,Overview of Kidney Disease in Children +What to do for Overview of Kidney Disease in Children ?,"For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes. Staying healthy with CKD requires paying close attention to the following elements of a diet: + +- Protein. Children with CKD should eat enough protein for growth while limiting high protein intake. Too much protein can put an extra burden on the kidneys and cause kidney function to decline faster. Protein needs increase when a child is on dialysis because the dialysis process removes protein from the childs blood. The health care team recommends the amount of protein needed for the child. Foods with protein include - eggs - milk - cheese - chicken - fish - red meats - beans - yogurt - cottage cheese - Sodium. The amount of sodium children need depends on the stage of their kidney disease, their age, and sometimes other factors. The health care team may recommend limiting or adding sodium and salt to the diet. Foods high in sodium include - canned foods - some frozen foods - most processed foods - some snack foods, such as chips and crackers - Potassium. Potassium levels need to stay in the normal range for children with CKD, because too little or too much potassium can cause heart and muscle problems. Children may need to stay away from some fruits and vegetables or reduce the number of servings and portion sizes to make sure they do not take in too much potassium. The health care team recommends the amount of potassium a child needs. Low-potassium fruits and vegetables include - apples - cranberries - strawberries - blueberries - raspberries - pineapple - cabbage - boiled cauliflower - mustard greens - uncooked broccoli - High-potassium fruits and vegetables include - oranges - melons - apricots - bananas - potatoes - tomatoes - sweet potatoes - cooked spinach - cooked broccoli - Phosphorus. Children with CKD need to control the level of phosphorus in their blood because too much phosphorus pulls calcium from the bones, making them weaker and more likely to break. Too much phosphorus also can cause itchy skin and red eyes. As CKD progresses, a child may need to take a phosphate binder with meals to lower the concentration of phosphorus in the blood. Phosphorus is found in high-protein foods. Foods with low levels of phosphorus include - liquid nondairy creamer - green beans - popcorn - unprocessed meats from a butcher - lemon-lime soda - root beer - powdered iced tea and lemonade mixes - rice and corn cereals - egg white - sorbet - Fluids. Early in CKD, a childs damaged kidneys may produce either too much or too little urine, which can lead to swelling or dehydration. As CKD progresses, children may need to limit fluid intake. The health care provider will tell the child and parents or guardians the goal for fluid intake. + +More information is provided in the NIDDK health topics, Nutrition for Chronic Kidney Disease in Children and Kidney Failure: Eat Right to Feel Right on Hemodialysis.",NIDDK,Overview of Kidney Disease in Children +What to do for Overview of Kidney Disease in Children ?,"- Kidney disease can affect children in various ways, ranging from treatable disorders without long-term consequences to life-threatening conditions. Acute kidney disease develops suddenly, lasts a short time, and can be serious with long-lasting consequences, or may go away completely once the underlying cause has been treated. - Chronic kidney disease (CKD) does not go away with treatment and tends to get worse over time. - Kidney disease in children can be caused by - birth defects - hereditary diseases - infection - nephrotic syndrome - systemic diseases - trauma - urine blockage or reflux - A health care provider diagnoses kidney disease in children by completing a physical exam, asking for a medical history, and reviewing signs and symptoms. To confirm diagnosis, the health care provider may order one or more of the following tests: - urine tests - blood test - imaging studies - kidney biopsy - Treatment for kidney disease in children depends on the cause of the illness. - Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. Improving blood pressure can significantly slow the progression of kidney disease. As kidney function declines, children may need treatment for anemia and growth failure. - Children with kidney disease that leads to kidney failure must receive treatment to replace the work the kidneys do. The two types of treatment are dialysis and transplantation. - For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes.",NIDDK,Overview of Kidney Disease in Children +What is (are) What I need to know about Lactose Intolerance ?,"Lactose + +* + +intestine + +lactase + +, + +enzyme + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Lactose Intolerance +What is (are) What I need to know about Lactose Intolerance ?,"Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. + +If your small intestine does not produce much lactase, you cannot break down much lactose. Lactose that does not break down goes to your colon. The colon is an organ that absorbs water from stool and changes it from a liquid to a solid form. In your colon, bacteria that normally live in the colon break down the lactose and create fluid and gas, causing you to have symptoms. + +The causes of low lactase in your small intestine can include the following: + +- In some people, the small intestine makes less lactase starting at about age 2, which may lead to symptoms of lactose intolerance. Other people start to have symptoms later, when they are teenagers or adults. - Infection, disease, or other problems that harm the small intestine can cause low lactase levels. Low lactase levels can cause you to become lactose intolerant until your small intestine heals. - Being born early may cause babies to be lactose intolerant for a short time after they are born. - In a rare form of lactose intolerance, the small intestine produces little or no lactase enzyme from birth. + +Not all people with low lactase levels have symptoms. If you have symptoms, you are lactose intolerant. + +Most people who are lactose intolerant can have some milk or milk products and not have symptoms. The amount of lactose that causes symptoms is different from person to person. + + + +People sometimes confuse lactose intolerance with a milk allergy. While lactose intolerance is a digestive problem, a milk allergy is a reaction by the bodys immune system to one or more milk proteins. If you have a milk allergy, having even a small amount of milk or milk product can be life threatening. A milk allergy most commonly occurs in the first year of life. Lactose intolerance occurs more often during the teen years or adulthood.",NIDDK,What I need to know about Lactose Intolerance +What are the symptoms of What I need to know about Lactose Intolerance ?,"Common symptoms of lactose intolerance include + +- bloating, a feeling of fullness or swelling, in your belly - pain in your belly - diarrhea - gas - nausea + +You may feel symptoms 30 minutes to 2 hours after you have milk or milk products. You may have mild or severe symptoms.",NIDDK,What I need to know about Lactose Intolerance +What to do for What I need to know about Lactose Intolerance ?,"Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends. + +Milk and milk products. You may be able to have milk and milk products without symptoms if you + +- drink small amounts of milkhalf a cup or lessat a time - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers - add small amounts of milk and milk products to your diet a little at a time and see how you feel - eat milk products that are easier for people with lactose intolerance to break down: - yogurt - hard cheeses such as cheddar and Swiss + + + +Lactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products. + +Lactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products. + + + + + +Calcium and Vitamin D If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include - fish with soft bones, such as canned salmon or sardines - broccoli and other leafy green vegetables - oranges - almonds, Brazil nuts, and dried beans - tofu - products with the label showing added calcium, such as cereals, fruit juices, and soy milk Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added. Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov.",NIDDK,What I need to know about Lactose Intolerance +What to do for What I need to know about Lactose Intolerance ?,"- Lactose is a sugar found in milk and milk products. - Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. - Your doctor will try to find out if you have lactose intolerance with a medical, family, and diet history; a physical exam; and medical tests. - Most people with lactose intolerance can eat or drink some lactose without symptoms. - If you have lactose intolerance, you can make changes to what you eat and drink. Some people may only need to have less lactose. Others may need to avoid lactose altogether. - Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. - Lactose is in many food products and in some medicines.",NIDDK,What I need to know about Lactose Intolerance +What is (are) Peyronie's Disease ?,"Peyronies disease is a disorder in which scar tissue, called a plaque, forms in the penisthe male organ used for urination and sex. The plaque builds up inside the tissues of a thick, elastic membrane called the tunica albuginea. The most common area for the plaque is on the top or bottom of the penis. As the plaque builds up, the penis will curve or bend, which can cause painful erections. Curves in the penis can make sexual intercourse painful, difficult, or impossible. Peyronies disease begins with inflammation, or swelling, which can become a hard scar. + +The plaque that develops in Peyronies disease is not the same plaque that can develop in a persons arteries. The plaque seen in Peyronies disease is benign, or noncancerous, and is not a tumor. Peyronies disease is not contagious or caused by any known transmittable disease. + +Early researchers thought Peyronies disease was a form of impotence, now called erectile dysfunction (ED). ED happens when a man is unable to achieve or keep an erection firm enough for sexual intercourse. Some men with Peyronies disease may have ED. Usually men with Peyronies disease are referred to a urologista doctor who specializes in sexual and urinary problems.",NIDDK,Peyronie's Disease +What causes Peyronie's Disease ?,"Medical experts do not know the exact cause of Peyronies disease. Many believe that Peyronies disease may be the result of + +- acute injury to the penis - chronic, or repeated, injury to the penis - autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs + +Injury to the Penis + +Medical experts believe that hitting or bending the penis may injure the tissues inside. A man may injure the penis during sex, athletic activity, or an accident. Injury ruptures blood vessels, which leads to bleeding and swelling inside the layers of the tunica albuginea. Swelling inside the penis will block blood flow through the layers of tissue inside the penis. When the blood cant flow normally, clots can form and trap immune system cells. As the injury heals, the immune system cells may release substances that lead to the formation of too much scar tissue. The scar tissue builds up and forms a plaque inside the penis. The plaque reduces the elasticity of tissues and flexibility of the penis during erection, leading to curvature. The plaque may further harden because of calcificationthe process in which calcium builds up in body tissue. + +Autoimmune Disease + +Some medical experts believe that Peyronies disease may be part of an autoimmune disease. Normally, the immune system is the bodys way of protecting itself from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Men who have autoimmune diseases may develop Peyronies disease when the immune system attacks cells in the penis. This can lead to inflammation in the penis and can cause scarring. Medical experts do not know what causes autoimmune diseases. Some of the autoimmune diseases associated with Peyronies disease affect connective tissues. Connective tissue is specialized tissue that supports, joins, or separates different types of tissues and organs of the body.",NIDDK,Peyronie's Disease +How many people are affected by Peyronie's Disease ?,"Researchers estimate that Peyronies disease may affect 1 to 23 percent of men between 40 and 70 years of age.1 However, the actual occurrence of Peyronies disease may be higher due to mens embarrassment and health care providers limited reporting.1 The disease is rare in young men, although it has been reported in men in their 30s.1 The chance of developing Peyronies disease increases with age.",NIDDK,Peyronie's Disease +What are the symptoms of Peyronie's Disease ?,"The signs and symptoms of Peyronies disease may include + +- hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED + +Symptoms of Peyronies disease range from mild to severe. Symptoms may develop slowly or appear quickly. In many cases, the pain decreases over time, although the curve in the penis may remain. In milder cases, symptoms may go away without causing a permanent curve.",NIDDK,Peyronie's Disease +What are the complications of Peyronie's Disease ?,"Complications of Peyronies disease may include + +- the inability to have sexual intercourse - ED - anxiety, or stress, about sexual abilities or the appearance of the penis - stress on a relationship with a sexual partner - problems fathering a child because intercourse is difficult",NIDDK,Peyronie's Disease +How to diagnose Peyronie's Disease ?,"A urologist diagnoses Peyronies disease based on + +- a medical and family history - a physical exam - imaging tests + +Medical and Family History + +Taking a medical and family history is one of the first things a urologist may do to help diagnose Peyronies disease. He or she will ask the man to provide a medical and family history, which may include the following questions: + +- What is the mans ability to have an erection? - What are the problems with sexual intercourse? - When did the symptoms begin? - What is the family medical history? - What medications is the man taking? - What other symptoms is the man experiencing? - What other medical conditions does the man have? + +Physical Exam + +A physical exam may help diagnose Peyronies disease. During a physical exam, a urologist usually examines the mans body, including the penis. + +A urologist can usually feel the plaque in the penis with or without an erection. Sometimes the urologist will need to examine the penis during an erection. The urologist will give the man an injectable medication to cause an erection. + +Imaging Tests + +To help pinpoint the location of the plaque buildup inside the penis, a urologist may perform + +- ultrasound of the penis - an x ray of the penis + +For both tests, a specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia. + +Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. + +X ray. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. The man will lie on a table or stand during the x ray, and the technician may ask the man to change positions for additional pictures.",NIDDK,Peyronie's Disease +What are the treatments for Peyronie's Disease ?,"A urologist may treat Peyronies disease with nonsurgical treatments or surgery. + +The goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. Peyronies disease often resolves on its own without treatment. + +A urologist may recommend changes in a mans lifestyle to reduce the risk of ED associated with Peyronies disease. + +Nonsurgical Treatments + +Nonsurgical treatments include medications and medical therapies. + +Medications. A urologist may prescribe medications aimed at decreasing a mans penile curvature, plaque size, and inflammation. A man may take prescribed medications to treat Peyronies disease orallyby mouthor a urologist may inject medications directly into the plaque. Verapamil is one type of topical medication that a man may apply to the skin over the plaque. + +- Oral medications. Oral medications may include - vitamin E - potassium para-aminobenzoate (Potaba) - tamoxifen - colchicine - acetyl-L-carnitine - pentoxifylline - Injections. Medications injected directly into plaques may include - verapamil - interferon alpha 2b - steroids - collagenase (Xiaflex) + +To date, collagenase is the first and only medication specifically approved for Peyronies disease. + +Medical therapies. A urologist may use medical therapies to break up scar tissue and decrease plaque size and curvature. Therapies to break up scar tissue may include + +- high-intensity, focused ultrasound directed at the plaque - radiation therapyhigh-energy rays, such as x rays, aimed at the plaque - shockwave therapyfocused, low-intensity electroshock waves directed at the plaque + +A urologist may use iontophoresispainless, low-level electric current that delivers medications through the skin over the plaqueto decrease plaque size and curvature. + +A urologist may use mechanical traction and vacuum devices aimed at stretching or bending the penis to reduce curvature. + +Surgery + +A urologist may recommend surgery to remove plaque or help straighten the penis during an erection. Medical experts recommend surgery for long-term cases when + +- symptoms have not improved - erections, intercourse, or both are painful - the curve or bend in the penis does not allow the man to have sexual intercourse + +Some men may develop complications after surgery, and sometimes surgery does not correct the effects of Peyronies diseasesuch as shortening of the penis. Some surgical methods can cause shortening of the penis. Medical experts suggest waiting 1 year or more from the onset of symptoms before having surgery because the course of Peyronies disease is different in each man. + +A urologist may recommend the following surgeries: + +- grafting. A urologist will cut or remove the plaque and attach a patch of skin, a vein, or material made from animal organs in its place. This procedure may straighten the penis and restore some lost length from Peyronies disease. However, some men may experience numbness of the penis and ED after the procedure. - plication. A urologist will remove or pinch a piece of the tunica albuginea from the side of the penis opposite the plaque, which helps to straighten the penis. This procedure is less likely to cause numbness or ED. Plication cannot restore length or girth of the penis and may cause shortening of the penis. - device implantation. A urologist implants a device into the penis that can cause an erection and help straighten it during an erection. Penile implants may be considered if a man has both Peyronies disease and ED. In some cases, an implant alone will straighten the penis adequately. If the implant alone does not straighten the penis, a urologist may combine implantation with one of the other two surgeries. Once a man has an implant, he must use the device to have an erection. + +A urologist performs these surgeries in a hospital. + +Lifestyle Changes + +A man can make healthy lifestyle changes to reduce the chance of ED associated with Peyronies disease by + +- quitting smoking - reducing alcohol consumption - exercising regularly - avoiding illegal drugs + +More information is provided in the NIDDK health topic, Erectile Dysfunction.",NIDDK,Peyronie's Disease +How to prevent Peyronie's Disease ?,Researchers do not know how to prevent Peyronies disease.,NIDDK,Peyronie's Disease +What to do for Peyronie's Disease ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Peyronies disease.",NIDDK,Peyronie's Disease +What to do for Peyronie's Disease ?,"- Peyronies disease is a disorder in which scar tissue, called a plaque, forms in the penisthe male organ used for urination and sex. - Medical experts do not know the exact cause of Peyronies disease. Many believe that Peyronies disease may be the result of - acute injury to the penis - chronic, or repeated, injury to the penis - autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs - The following factors may increase a mans chance of developing Peyronies disease: - vigorous sexual or nonsexual activities that cause microscopic injury to the penis - certain connective tissue and autoimmune disorders - a family history of Peyronies disease - aging - The signs and symptoms of Peyronies disease may include - hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - erectile dysfunction (ED) - Complications of Peyronies disease may include - the inability to have sexual intercourse - ED - anxiety, or stress, about sexual abilities or the appearance of the penis - stress on a relationship with a sexual partner - problems fathering a child because intercourse is difficult - A urologist diagnoses Peyronies disease based on - a medical and family history - a physical exam - imaging tests - A urologist may treat Peyronies disease with nonsurgical treatments or surgery. - Researchers do not know how to prevent Peyronies disease.",NIDDK,Peyronie's Disease +What is (are) Acromegaly ?,"Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. The pituitary, a small gland in the brain, makes GH. In acromegaly, the pituitary produces excessive amounts of GH. Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. These benign tumors are called adenomas. + +Acromegaly is most often diagnosed in middle-aged adults, although symptoms can appear at any age. If not treated, acromegaly can result in serious illness and premature death. Acromegaly is treatable in most patients, but because of its slow and often ""sneaky"" onset, it often is not diagnosed early or correctly. The most serious health consequences of acromegaly are type 2 diabetes, high blood pressure, increased risk of cardiovascular disease, and arthritis. Patients with acromegaly are also at increased risk for colon polyps, which may develop into colon cancer if not removed. + +When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly. A child's height is determined by the length of the so-called long bones in the legs. In response to GH, these bones grow in length at the growth platesareas near either end of the bone. Growth plates fuse after puberty, so the excessive GH production in adults does not result in increased height. However, prolonged exposure to excess GH before the growth plates fuse causes increased growth of the long bones and thus increased height. Pediatricians may become concerned about this possibility if a child's growth rate suddenly and markedly increases beyond what would be predicted by previous growth and how tall the child's parents are.",NIDDK,Acromegaly +What are the symptoms of Acromegaly ?,"The name acromegaly comes from the Greek words for ""extremities"" and ""enlargement,"" reflecting one of its most common symptomsthe abnormal growth of the hands and feet. Swelling of the hands and feet is often an early feature, with patients noticing a change in ring or shoe size, particularly shoe width. Gradually, bone changes alter the patient's facial features: The brow and lower jaw protrude, the nasal bone enlarges, and the teeth space out. + +Overgrowth of bone and cartilage often leads to arthritis. When tissue thickens, it may trap nerves, causing carpal tunnel syndrome, which results in numbness and weakness of the hands. Body organs, including the heart, may enlarge. + +Other symptoms of acromegaly include + +- joint aches - thick, coarse, oily skin - skin tags - enlarged lips, nose, and tongue - deepening of the voice due to enlarged sinuses and vocal cords - sleep apnea-breaks in breathing during sleep due to obstruction of the airway - excessive sweating and skin odor - fatigue and weakness - headaches - impaired vision - abnormalities of the menstrual cycle and sometimes breast discharge in women - erectile dysfunction in men - decreased libido",NIDDK,Acromegaly +What causes Acromegaly ?,"Acromegaly is caused by prolonged overproduction of GH by the pituitary gland. The pituitary produces several important hormones that control body functions such as growth and development, reproduction, and metabolism. But hormones never seem to act simply and directly. They usually ""cascade"" or flow in a series, affecting each other's production or release into the bloodstream. + +GH is part of a cascade of hormones that, as the name implies, regulates the physical growth of the body. This cascade begins in a part of the brain called the hypothalamus. The hypothalamus makes hormones that regulate the pituitary. One of the hormones in the GH series, or ""axis,"" is growth hormone-releasing hormone (GHRH), which stimulates the pituitary gland to produce GH. + +Secretion of GH by the pituitary into the bloodstream stimulates the liver to produce another hormone called insulin-like growth factor I (IGF-I). IGF-I is what actually causes tissue growth in the body. High levels of IGF-I, in turn, signal the pituitary to reduce GH production. + +The hypothalamus makes another hormone called somatostatin, which inhibits GH production and release. Normally, GHRH, somatostatin, GH, and IGF-I levels in the body are tightly regulated by each other and by sleep, exercise, stress, food intake, and blood sugar levels. If the pituitary continues to make GH independent of the normal regulatory mechanisms, the level of IGF-I continues to rise, leading to bone overgrowth and organ enlargement. High levels of IGF-I also cause changes in glucose (sugar) and lipid (fat) metabolism and can lead to diabetes, high blood pressure, and heart disease. + +Pituitary Tumors + +In more than 95 percent of people with acromegaly, a benign tumor of the pituitary gland, called an adenoma, produces excess GH. Pituitary tumors are labeled either micro- or macro-adenomas, depending on their size. Most GH-secreting tumors are macro-adenomas, meaning they are larger than 1 centimeter. Depending on their location, these larger tumors may compress surrounding brain structures. For example, a tumor growing upward may affect the optic chiasm-where the optic nerves crossleading to visual problems and vision loss. If the tumor grows to the side, it may enter an area of the brain called the cavernous sinus where there are many nerves, potentially damaging them. + +Compression of the surrounding normal pituitary tissue can alter production of other hormones. These hormonal shifts can lead to changes in menstruation and breast discharge in women and erectile dysfunction in men. If the tumor affects the part of the pituitary that controls the thyroidanother hormone-producing glandthen thyroid hormones may decrease. Too little thyroid hormone can cause weight gain, fatigue, and hair and skin changes. If the tumor affects the part of the pituitary that controls the adrenal gland, the hormone cortisol may decrease. Too little cortisol can cause weight loss, dizziness, fatigue, low blood pressure, and nausea. + +Some GH-secreting tumors may also secrete too much of other pituitary hormones. For example, they may produce prolactin, the hormone that stimulates the mammary glands to produce milk. Rarely, adenomas may produce thyroid-stimulating hormone. Doctors should assess all pituitary hormones in people with acromegaly. + +Rates of GH production and the aggressiveness of the tumor vary greatly among people with adenomas. Some adenomas grow slowly and symptoms of GH excess are often not noticed for many years. Other adenomas grow more rapidly and invade surrounding brain areas or the venous sinuses, which are located near the pituitary gland. Younger patients tend to have more aggressive tumors. Regardless of size, these tumors are always benign. + +Most pituitary tumors develop spontaneously and are not genetically inherited. They are the result of a genetic alteration in a single pituitary cell, which leads to increased cell division and tumor formation. This genetic change, or mutation, is not present at birth, but happens later in life. The mutation occurs in a gene that regulates the transmission of chemical signals within pituitary cells. It permanently switches on the signal that tells the cell to divide and secrete GH. The events within the cell that cause disordered pituitary cell growth and GH oversecretion currently are the subject of intensive research. + +Nonpituitary Tumors + +Rarely, acromegaly is caused not by pituitary tumors but by tumors of the pancreas, lungs, and other parts of the brain. These tumors also lead to excess GH, either because they produce GH themselves or, more frequently, because they produce GHRH, the hormone that stimulates the pituitary to make GH. When these non-pituitary tumors are surgically removed, GH levels fall and the symptoms of acromegaly improve. + +In patients with GHRH-producing, non-pituitary tumors, the pituitary still may be enlarged and may be mistaken for a tumor. Physicians should carefully analyze all ""pituitary tumors"" removed from patients with acromegaly so they do not overlook the rare possibility that a tumor elsewhere in the body is causing the disorder.",NIDDK,Acromegaly +How many people are affected by Acromegaly ?,"Small pituitary adenomas are common, affecting about 17 percent of the population.1 However, research suggests most of these tumors do not cause symptoms and rarely produce excess GH.2 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time.3 Because the clinical diagnosis of acromegaly is often missed, these numbers probably underestimate the frequency of the disease.",NIDDK,Acromegaly +How to diagnose Acromegaly ?,"Blood tests + +If acromegaly is suspected, a doctor must measure the GH level in a persons blood to determine if it is elevated. However, a single measurement of an elevated blood GH level is not enough to diagnose acromegaly: Because GH is secreted by the pituitary in impulses, or spurts, its concentration in the blood can vary widely from minute to minute. At a given moment, a person with acromegaly may have a normal GH level, whereas a GH level in a healthy person may even be five times higher. + +More accurate information is obtained when GH is measured under conditions that normally suppress GH secretion. Health care professionals often use the oral glucose tolerance test to diagnose acromegaly because drinking 75 to 100 grams of glucose solution lowers blood GH levels to less than 1 nanogram per milliliter (ng/ml) in healthy people. In people with GH overproduction, this suppression does not occur. The oral glucose tolerance test is a highly reliable method for confirming a diagnosis of acromegaly. + +Physicians also can measure IGF-I levels, which increase as GH levels go up, in people with suspected acromegaly. Because IGF-I levels are much more stable than GH levels over the course of the day, they are often a more practical and reliable screening measure. Elevated IGF-I levels almost always indicate acromegaly. However, a pregnant womans IGF-I levels are two to three times higher than normal. In addition, physicians must be aware that IGF-I levels decline with age and may also be abnormally low in people with poorly controlled diabetes or liver or kidney disease. + +Imaging + +After acromegaly has been diagnosed by measuring GH or IGF-I levels, a magnetic resonance imaging (MRI) scan of the pituitary is used to locate and detect the size of the tumor causing GH overproduction. MRI is the most sensitive imaging technique, but computerized tomography (CT) scans can be used if the patient should not have MRI. For example, people who have pacemakers or other types of implants containing metal should not have an MRI scan because MRI machines contain powerful magnets. + +If a head scan fails to detect a pituitary tumor, the physician should look for non-pituitary ""ectopic"" tumors in the chest, abdomen, or pelvis as the cause of excess GH. The presence of such tumors usually can be diagnosed by measuring GHRH in the blood and by a CT scan of possible tumor sites. + +Rarely, a pituitary tumor secreting GH may be too tiny to detect even with a sensitive MRI scan.",NIDDK,Acromegaly +What are the treatments for Acromegaly ?,"Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary. + +Goals of treatment are to + +- reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the surrounding brain areas - preserve normal pituitary function or treat hormone deficiencies - improve the symptoms of acromegaly + +Surgery + +Surgery is the first option recommended for most people with acromegaly, as it is often a rapid and effective treatment. The surgeon reaches the pituitary via an incision through the nose or inside the upper lip and, with special tools, removes the tumor tissue in a procedure called transsphenoidal surgery. This procedure promptly relieves the pressure on the surrounding brain regions and leads to a rapid lowering of GH levels. If the surgery is successful, facial appearance and soft tissue swelling improve within a few days. + +Surgery is most successful in patients with blood GH levels below 45 ng/ml before the operation and with pituitary tumors no larger than 10 millimeters (mm) in diameter. Success depends in large part on the skill and experience of the surgeon, as well as the location of the tumor. Even with the most experienced neurosurgeon, the chance of a cure is small if the tumor has extended into critical brain structures or into the cavernous sinus where surgery could be risky. + +The success rate also depends on what level of GH is defined as a cure. The best measure of surgical success is normalization of GH and IGF-I levels. The overall rate of remission-control of the disease-after surgery ranges from 55 to 80 percent. (See For More Information to locate a board-certified neurosurgeon.) + +A possible complication of surgery is damage to the surrounding normal pituitary tissue, which requires lifelong use of pituitary hormone replacement. The part of the pituitary that stores antidiuretic hormonea hormone important in water balancemay be temporarily or, rarely, permanently damaged and the patient may require medical therapy. Other potential problems include cerebrospinal fluid leaks and, rarely, meningitis. Cerebrospinal fluid bathes the brain and can leak from the nose if the incision area doesnt heal well. Meningitis is a bacterial or viral infection of the meninges, the outer covering of the brain. + +Even when surgery is successful and hormone levels return to normal, people with acromegaly must be carefully monitored for years for possible recurrence of the disease. More commonly, hormone levels improve, but do not return to normal. Additional treatment, usually medications, may be required. + +Medical Therapy + +Medical therapy is most often used if surgery does not result in a cure and sometimes to shrink large tumors before surgery. Three medication groups are used to treat acromegaly. + +Somatostatin analogs (SSAs) are the first medication group used to treat acromegaly. They shut off GH production and are effective in lowering GH and IGF-I levels in 50 to 70 percent of patients. SSAs also reduce tumor size in around 0 to 50 percent of patients but only to a modest degree. Several studies have shown that SSAs are safe and effective for long-term treatment and in treating patients with acromegaly caused by nonpituitary tumors. Long-acting SSAs are given by intramuscular injection once a month. + +Digestive problems-such as loose stools, nausea, and gas-are a side effect in about half of people taking SSAs. However, the effects are usually temporary and rarely severe. About 10 to 20 percent of patients develop gallstones, but the gallstones do not usually cause symptoms. In rare cases, treatment can result in elevated blood glucose levels. More commonly, SSAs reduce the need for insulin and improve blood glucose control in some people with acromegaly who already have diabetes. + +The second medication group is the GH receptor antagonists (GHRAs), which interfere with the action of GH. They normalize IGF-I levels in more than 90 percent of patients. They do not, however, lower GH levels. Given once a day through injection, GHRAs are usually well-tolerated by patients. The long-term effects of these drugs on tumor growth are still under study. Side effects can include headaches, fatigue, and abnormal liver function. + +Dopamine agonists make up the third medication group. These drugs are not as effective as the other medications at lowering GH or IGF-I levels, and they normalize IGF-I levels in only a minority of patients. Dopamine agonists are sometimes effective in patients who have mild degrees of excess GH and have both acromegaly and hyperprolactinemiatoo much of the hormone prolactin. Dopamine agonists can be used in combination with SSAs. Side effects can include nausea, headache, and lightheadedness. + +Agonist: A drug that binds to a receptor of a cell and triggers a response by the cell, mimicking the action of a naturally occurring substance. Antagonist: A chemical that acts within the body to reduce the physiological activity of another chemical substance or hormone. + +Radiation Therapy + +Radiation therapy is usually reserved for people who have some tumor remaining after surgery and do not respond to medications. Because radiation leads to a slow lowering of GH and IGF-I levels, these patients often also receive medication to lower hormone levels. The full effect of this therapy may not occur for many years. + +The two types of radiation delivery are conventional and stereotactic. Conventional radiation delivery targets the tumor with external beams but can damage surrounding tissue. The treatment delivers small doses of radiation multiple times over 4 to 6 weeks, giving normal tissue time to heal between treatments. + +Stereotactic delivery allows precise targeting of a high-dose beam of radiation at the tumor from varying angles. The patient must wear a rigid head frame to keep the head still. The types of stereotactic radiation delivery currently available are proton beam, linear accelerator (LINAC), and gamma knife. With stereotactic delivery, the tumor must be at least 5 mm from the optic chiasm to prevent radiation damage. This treatment can sometimes be done in a single session, reducing the risk of damage to surrounding tissue. + +All forms of radiation therapy cause a gradual decline in production of other pituitary hormones over time, resulting in the need for hormone replacement in most patients. Radiation also can impair a patients fertility. Vision loss and brain injury are rare complications. Rarely, secondary tumors can develop many years later in areas that were in the path of the radiation beam.",NIDDK,Acromegaly +What are the treatments for Acromegaly ?,"Currently, treatment options include surgical removal of the tumor, medical therapy, and radiation therapy of the pituitary. + +Goals of treatment are to + +- reduce excess hormone production to normal levels - relieve the pressure that the growing pituitary tumor may be exerting on the surrounding brain areas - preserve normal pituitary function or treat hormone deficiencies - improve the symptoms of acromegaly + +Surgery + +Surgery is the first option recommended for most people with acromegaly, as it is often a rapid and effective treatment. The surgeon reaches the pituitary via an incision through the nose or inside the upper lip and, with special tools, removes the tumor tissue in a procedure called transsphenoidal surgery. This procedure promptly relieves the pressure on the surrounding brain regions and leads to a rapid lowering of GH levels. If the surgery is successful, facial appearance and soft tissue swelling improve within a few days. + +Surgery is most successful in patients with blood GH levels below 45 ng/ml before the operation and with pituitary tumors no larger than 10 millimeters (mm) in diameter. Success depends in large part on the skill and experience of the surgeon, as well as the location of the tumor. Even with the most experienced neurosurgeon, the chance of a cure is small if the tumor has extended into critical brain structures or into the cavernous sinus where surgery could be risky. + +The success rate also depends on what level of GH is defined as a cure. The best measure of surgical success is normalization of GH and IGF-I levels. The overall rate of remission-control of the disease-after surgery ranges from 55 to 80 percent. (See For More Information to locate a board-certified neurosurgeon.) + +A possible complication of surgery is damage to the surrounding normal pituitary tissue, which requires lifelong use of pituitary hormone replacement. The part of the pituitary that stores antidiuretic hormonea hormone important in water balancemay be temporarily or, rarely, permanently damaged and the patient may require medical therapy. Other potential problems include cerebrospinal fluid leaks and, rarely, meningitis. Cerebrospinal fluid bathes the brain and can leak from the nose if the incision area doesnt heal well. Meningitis is a bacterial or viral infection of the meninges, the outer covering of the brain. + +Even when surgery is successful and hormone levels return to normal, people with acromegaly must be carefully monitored for years for possible recurrence of the disease. More commonly, hormone levels improve, but do not return to normal. Additional treatment, usually medications, may be required. + +Medical Therapy + +Medical therapy is most often used if surgery does not result in a cure and sometimes to shrink large tumors before surgery. Three medication groups are used to treat acromegaly. + +Somatostatin analogs (SSAs) are the first medication group used to treat acromegaly. They shut off GH production and are effective in lowering GH and IGF-I levels in 50 to 70 percent of patients. SSAs also reduce tumor size in around 0 to 50 percent of patients but only to a modest degree. Several studies have shown that SSAs are safe and effective for long-term treatment and in treating patients with acromegaly caused by nonpituitary tumors. Long-acting SSAs are given by intramuscular injection once a month. + +Digestive problems-such as loose stools, nausea, and gas-are a side effect in about half of people taking SSAs. However, the effects are usually temporary and rarely severe. About 10 to 20 percent of patients develop gallstones, but the gallstones do not usually cause symptoms. In rare cases, treatment can result in elevated blood glucose levels. More commonly, SSAs reduce the need for insulin and improve blood glucose control in some people with acromegaly who already have diabetes. + +The second medication group is the GH receptor antagonists (GHRAs), which interfere with the action of GH. They normalize IGF-I levels in more than 90 percent of patients. They do not, however, lower GH levels. Given once a day through injection, GHRAs are usually well-tolerated by patients. The long-term effects of these drugs on tumor growth are still under study. Side effects can include headaches, fatigue, and abnormal liver function. + +Dopamine agonists make up the third medication group. These drugs are not as effective as the other medications at lowering GH or IGF-I levels, and they normalize IGF-I levels in only a minority of patients. Dopamine agonists are sometimes effective in patients who have mild degrees of excess GH and have both acromegaly and hyperprolactinemiatoo much of the hormone prolactin. Dopamine agonists can be used in combination with SSAs. Side effects can include nausea, headache, and lightheadedness. + +Agonist: A drug that binds to a receptor of a cell and triggers a response by the cell, mimicking the action of a naturally occurring substance. Antagonist: A chemical that acts within the body to reduce the physiological activity of another chemical substance or hormone. + +Radiation Therapy + +Radiation therapy is usually reserved for people who have some tumor remaining after surgery and do not respond to medications. Because radiation leads to a slow lowering of GH and IGF-I levels, these patients often also receive medication to lower hormone levels. The full effect of this therapy may not occur for many years. + +The two types of radiation delivery are conventional and stereotactic. Conventional radiation delivery targets the tumor with external beams but can damage surrounding tissue. The treatment delivers small doses of radiation multiple times over 4 to 6 weeks, giving normal tissue time to heal between treatments. + +Stereotactic delivery allows precise targeting of a high-dose beam of radiation at the tumor from varying angles. The patient must wear a rigid head frame to keep the head still. The types of stereotactic radiation delivery currently available are proton beam, linear accelerator (LINAC), and gamma knife. With stereotactic delivery, the tumor must be at least 5 mm from the optic chiasm to prevent radiation damage. This treatment can sometimes be done in a single session, reducing the risk of damage to surrounding tissue. + +All forms of radiation therapy cause a gradual decline in production of other pituitary hormones over time, resulting in the need for hormone replacement in most patients. Radiation also can impair a patients fertility. Vision loss and brain injury are rare complications. Rarely, secondary tumors can develop many years later in areas that were in the path of the radiation beam.",NIDDK,Acromegaly +What are the treatments for Acromegaly ?,"No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size. + +If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon is usually the first choice. Even if a cure is not possible, surgery may be performed if the patient has symptoms of neurological problems such as loss of peripheral vision or cranial nerve problems. After surgery, hormone levels are measured to determine whether a cure has been achieved. This determination can take up to 8 weeks because IGF-I lasts a long time in the body's circulation. If cured, a patient must be monitored for a long time for increasing GH levels. + +If surgery does not normalize hormone levels or a relapse occurs, an endocrinologist should recommend additional drug therapy. With each medication, long-term therapy is necessary because their withdrawal can lead to rising GH levels and tumor re-expansion. + +Radiation therapy is generally reserved for patients whose tumors are not completely removed by surgery, who are not good candidates for surgery because of other health problems, or who do not respond adequately to surgery and medication.",NIDDK,Acromegaly +What to do for Acromegaly ?,"- Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH. - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding lower jaw and brow and an enlarged nasal bone; joint aches; thick, coarse, oily skin; and enlarged lips, nose, and tongue. - Acromegaly can cause sleep apnea, fatigue and weakness, headaches, impaired vision, menstrual abnormalities in women, and erectile dysfunction in men. - Acromegaly is diagnosed through a blood test. Magnetic resonance imaging (MRI) of the pituitary is then used to locate and detect the size of the tumor causing GH overproduction. - The first line of treatment is usually surgical removal of the tumor. Medication or radiation may be used instead of or in addition to surgery.",NIDDK,Acromegaly +What is (are) Gastroparesis ?,"Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from the stomach to the small intestine. Normally, the muscles of the stomach, which are controlled by the vagus nerve, contract to break up food and move it through the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Gastroparesis can occur when the vagus nerve is damaged by illness or injury and the stomach muscles stop working normally. Food then moves slowly from the stomach to the small intestine or stops moving altogether.",NIDDK,Gastroparesis +What causes Gastroparesis ?,"Most people diagnosed with gastroparesis have idiopathic gastroparesis, which means a health care provider cannot identify the cause, even with medical tests. Diabetes is the most common known cause of gastroparesis. People with diabetes have high levels of blood glucose, also called blood sugar. Over time, high blood glucose levels can damage the vagus nerve. Other identifiable causes of gastroparesis include intestinal surgery and nervous system diseases such as Parkinsons disease or multiple sclerosis. For reasons that are still unclear, gastroparesis is more commonly found in women than in men.",NIDDK,Gastroparesis +What are the symptoms of Gastroparesis ?,"The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include + +- gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa condition in which stomach contents flow back up into the esophagus, the organ that connects the mouth to the stomach - pain in the stomach area - abdominal bloating - lack of appetite + +Symptoms may be aggravated by eating greasy or rich foods, large quantities of foods with fibersuch as raw fruits and vegetablesor drinking beverages high in fat or carbonation. Symptoms may be mild or severe, and they can occur frequently in some people and less often in others. The symptoms of gastroparesis may also vary in intensity over time in the same individual. Sometimes gastroparesis is difficult to diagnose because people experience a range of symptoms similar to those of other diseases.",NIDDK,Gastroparesis +How to diagnose Gastroparesis ?,"Gastroparesis is diagnosed through a physical exam, medical history, blood tests, tests to rule out blockage or structural problems in the GI tract, and gastric emptying tests. Tests may also identify a nutritional disorder or underlying disease. To rule out any blockage or other structural problems, the health care provider may perform one or more of the following tests: + +- Upper gastrointestinal (GI) endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenumthe first part of the small intestine. The test is performed at a hospital or outpatient center by a gastroenterologista doctor who specializes in digestive diseases. The endoscope is carefully fed down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. An intravenous (IV) needle is placed in a vein in the arm if general anesthesia is given. The test may show blockage or large bezoarssolid collections of food, mucus, vegetable fiber, hair, or other material that cannot be digested in the stomachthat are sometimes softened, dissolved, or broken up during an upper GI endoscopy. - Upper GI series. An upper GI series may be done to look at the small intestine. The test is performed at a hospital or outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. No eating or drinking is allowed for 8 hours before the procedure, if possible. If the person has diabetes, a health care provider may give different instructions about fasting before the test. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the small intestine, making signs of gastroparesis show up more clearly on x rays. Gastroparesis is likely if the x ray shows food in the stomach after fasting. A person may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes stools to be white or light colored. A health care provider will give the person specific instructions about eating and drinking after the test. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. The images can show whether gallbladder disease and pancreatitis could be the cause of a persons digestive symptoms, rather than gastroparesis. - Gastric emptying scintigraphy. The test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. The test is performed in a radiology center or hospital by a specially trained technician and interpreted by a radiologist; anesthesia is not needed. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. If more than 10 percent of the meal is still in the stomach at 4 hours, the diagnosis of gastroparesis is confirmed. - SmartPill. The SmartPill is a small electronic device in capsule form. The SmartPill test is available at specialized outpatient centers. The images are interpreted by a radiologist. The device is swallowed and moves through the entire digestive tract, sending information to a cell-phone-sized receiver worn around the persons waist or neck. The recorded information provides a detailed record of how quickly food travels through each part of the digestive tract. - Gastric emptying breath test. With this test, the person eats a special test meal that includes a natural material with a special type of carbon in it. Then, breath samples are taken over a period of several hours to measure the amount of the material in the exhaled breath. The results allow the health care provider to calculate how fast the stomach is emptying.",NIDDK,Gastroparesis +What are the treatments for Gastroparesis ?,"Treatment of gastroparesis depends on the severity of the persons symptoms. In most cases, treatment does not cure gastroparesis, which is usually a chronic, or long-lasting, condition. Gastroparesis is also a relapsing conditionthe symptoms can come and go for periods of time. Treatment helps people manage the condition so they can be as comfortable and active as possible.",NIDDK,Gastroparesis +What to do for Gastroparesis ?,"Changing eating habits can sometimes help control the severity of gastroparesis symptoms. A health care provider may suggest eating six small meals a day instead of three large ones. If less food enters the stomach each time a person eats, the stomach may not become overly full, allowing it to empty more easily. Chewing food well, drinking noncarbonated liquids with a meal, and walking or sitting for 2 hours after a mealinstead of lying downmay assist with gastric emptying. + +A health care provider may also recommend avoiding high-fat and fibrous foods. Fat naturally slows digestion and some raw vegetables and fruits are more difficult to digest than other foods. Some foods, such as oranges and broccoli, contain fibrous parts that do not digest well. People with gastroparesis should minimize their intake of large portions of these foods because the undigested parts may remain in the stomach too long. Sometimes, the undigested parts form bezoars. + +When a person has severe symptoms, a liquid or pured diet may be prescribed. As liquids tend to empty more quickly from the stomach, some people may find a pured diet helps improve symptoms. Pured fresh or cooked fruits and vegetables can be incorporated into shakes and soups. A health care provider may recommend a dietitian to help a person plan meals that minimize symptoms and ensure all nutritional needs are met. + +When the most extreme cases of gastroparesis lead to severe nausea, vomiting, and dehydration, urgent care may be required at a medical facility where IV fluids can be given. + + + +Medications + +Several prescription medications are available to treat gastroparesis. A combination of medications may be used to find the most effective treatment. + +Metoclopramide (Reglan). This medication stimulates stomach muscle contractions to help with gastric emptying. Metoclopramide also helps reduce nausea and vomiting. The medication is taken 20 to 30 minutes before meals and at bedtime. Possible side effects of metoclopramide include fatigue, sleepiness, and depression. Currently, this is the only medication approved by the FDA for treatment of gastroparesis. However, the FDA has placed a black box warning on this medication because of rare reports of it causing an irreversible neurologic side effect called tardive dyskinesiaa disorder that affects movement. + +Erythromycin. This antibiotic, prescribed at low doses, may improve gastric emptying. Like metaclopramide, erythromycin works by increasing the contractions that move food through the stomach. Possible side effects of erythromycin include nausea, vomiting, and abdominal cramps. + +Other medications. Other medications may be used to treat symptoms and problems related to gastroparesis. For example, medications known as antiemetics are used to help control nausea and vomiting. + +Botulinum Toxin + +Botulinum toxin is a nerve blocking agent also known as Botox. After passing an endoscope into the stomach, a health care provider injects the Botox into the pylorus, the opening from the stomach into the duodenum. Botox is supposed to help keep the pylorus open for longer periods of time and improve symptoms of gastroparesis. Although some initial research trials showed modest improvement in gastroparesis symptoms and the rate of gastric emptying following the injections, other studies have failed to show the same degree of effectiveness of the Botox injections.1 + +Gastric Electrical Stimulation + +This treatment alternative may be effective for some people whose nausea and vomiting do not improve with dietary changes or medications. A gastric neurostimulator is a surgically implanted battery-operated device that sends mild electrical pulses to the stomach muscles to help control nausea and vomiting. The procedure may be performed at a hospital or outpatient center by a gastroenterologist. General anesthesia may be required. The gastroenterologist makes several tiny incisions in the abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magnified image from inside the stomach to a video monitor, giving the gastroenterologist a close-up view of the tissues. Once implanted, the settings on the battery-operated device can be adjusted to determine the settings that best control symptoms. + +Jejunostomy + +If medications and dietary changes dont work, and the person is losing weight or requires frequent hospitalization for dehydration, a health care provider may recommend surgically placing a feeding tube through the abdominal wall directly into a part of the small intestine called the jejunum. The surgical procedure is known as a jejunostomy. The procedure is performed by a surgeon at a hospital or outpatient center. Anesthesia is needed. The feeding tube bypasses the stomach and delivers a special liquid food with nutrients directly into the jejunum. The jejunostomy is used only when gastroparesis is extremely severe. + +Parenteral Nutrition + +When gastroparesis is so severe that dietary measures and other treatments are not helping, a health care provider may recommend parenteral nutritionan IV liquid food mixture supplied through a special tube in the chest. The procedure is performed by a surgeon at a hospital or outpatient center; anesthesia is needed. The surgeon inserts a thin, flexible tube called a catheter into a chest vein, with the catheter opening outside the skin. A bag containing liquid nutrients is attached to the catheter, and the nutrients are transported through the catheter into the chest vein and into the bloodstream. This approach is a less preferable alternative to a jejunostomy and is usually a temporary treatment to get through a difficult period of gastroparesis.",NIDDK,Gastroparesis +What are the treatments for Gastroparesis ?,"An elevated blood glucose level directly interferes with normal stomach emptying, so good blood glucose control in people with diabetes is important. However, gastroparesis can make blood glucose control difficult. When food that has been delayed in the stomach finally enters the small intestine and is absorbed, blood glucose levels rise. Gastric emptying is unpredictable with gastroparesis, causing a persons blood glucose levels to be erratic and difficult to control. + +The primary treatment goals for gastroparesis related to diabetes are to improve gastric emptying and regain control of blood glucose levels. In addition to the dietary changes and treatments already described, a health care provider will likely adjust the persons insulin regimen. + +To better control blood glucose, people with diabetes and gastroparesis may need to + +- take insulin more often or change the type of insulin they take - take insulin after meals, instead of before - check blood glucose levels frequently after eating and administer insulin when necessary + +A health care provider will give specific instructions for taking insulin based on the individuals needs and the severity of gastroparesis. + +In some cases, the dietitian may suggest eating several liquid or pured meals a day until gastroparesis symptoms improve and blood glucose levels are more stable.",NIDDK,Gastroparesis +What is (are) Gastroparesis ?,"The problems of gastroparesis can include + +- severe dehydration due to persistent vomiting - gastroesophageal reflux disease (GERD), which is GER that occurs more than twice a week for a few weeks; GERD can lead to esophagitis irritation of the esophagus - bezoars, which can cause nausea, vomiting, obstruction, or interfere with absorption of some medications in pill form - difficulty managing blood glucose levels in people with diabetes - malnutrition due to poor absorption of nutrients or a low calorie intake - decreased quality of life, including work absences due to severe symptoms",NIDDK,Gastroparesis +What to do for Gastroparesis ?,"- Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from the stomach to the small intestine. - Gastroparesis can occur when the vagus nerve is damaged by illness or injury and the stomach muscles stop working normally. Food then moves slowly from the stomach to the small intestine or stops moving altogether. - Most people diagnosed with gastroparesis have idiopathic gastroparesis, which means a health care provider cannot identify the cause, even with medical tests. - Diabetes is the most common known cause of gastroparesis. People with diabetes have high levels of blood glucose, also called blood sugar. Over time, high blood glucose levels can damage the vagus nerve. - The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested food sometimes several hours after a meal. Other common symptoms include gastroesophageal reflux (GER), pain in the stomach area, abdominal bloating, and lack of appetite. - Gastroparesis is diagnosed through a physical exam, medical history, blood tests, tests to rule out blockage or structural problems in the gastrointestinal (GI) tract, and gastric emptying tests. - Changing eating habits can sometimes help control the severity of gastroparesis symptoms. A health care provider may suggest eating six small meals a day instead of three large ones. When a person has severe symptoms, a liquid or pured diet may be prescribed. - Treatment of gastroparesis may include medications, botulinum toxin, gastric electrical stimulation, jejunostomy, and parenteral nutrition. - For people with gastroparesis and diabetes, a health care provider will likely adjust the persons insulin regimen.",NIDDK,Gastroparesis +What is (are) Alagille Syndrome ?,"Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood. + +Bile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.",NIDDK,Alagille Syndrome +What is (are) Alagille Syndrome ?,"The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. Food enters the mouth and passes to the anus through the hollow organs of the digestive system. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.",NIDDK,Alagille Syndrome +What causes Alagille Syndrome ?,"Alagille syndrome is caused by a gene mutation, or defect. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the DNA sequence that makes up a gene. DNA, or deoxyribonucleic acid, is the material inside cells that carries genetic information and passes genes from parent to child. Approximately 30 to 50 percent of people with Alagille syndrome have an inherited gene mutation, meaning it has been passed on by a parent. In the remaining cases, the gene mutation develops spontaneously.1 In spontaneous cases, neither parent carries a copy of the mutated gene. + +Most cases of Alagille syndrome are caused by a mutation in the JAGGED1 (JAG1) gene. In less than 1 percent of cases, a mutation in the NOTCH2 gene is the cause.2 + + + +Genetic Disorders Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder. People have two copies of most genes; one copy is inherited from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred in a person, it can be passed to the person's children. Read more about genes and genetic conditions at the U.S. National Library of Medicine's (NLM's) Genetics Home Reference at www.ghr.nlm.nih.gov.",NIDDK,Alagille Syndrome +How many people are affected by Alagille Syndrome ?,"Alagille syndrome occurs in about one of every 30,000 live births.3 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. + +JAG1 and NOTCH2 gene mutations are inherited in an autosomal dominant way, which means a child can get Alagille syndrome by inheriting either of the gene mutations from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. + +The following chart shows the chance of inheriting an autosomal dominant gene mutation: + +The gene mutations that cause Alagille syndrome may cause mild or subtle symptoms. Some people may not know they are affected, while others with the gene mutation may develop more serious characteristics of Alagille syndrome. A person with a gene mutation, whether showing serious symptoms or not, has Alagille syndrome and can pass the gene mutation to a child. + +Read more about how genetic conditions are inherited at the NLM's Genetics Home Reference website at www.ghr.nlm.nih.gov.",NIDDK,Alagille Syndrome +What are the symptoms of Alagille Syndrome ?,"The signs and symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation. + +Liver + +In some people, problems in the liver may be the first signs and symptoms of the disorder. These signs and symptoms can occur in children and adults with Alagille syndrome, and in infants as early as the first 3 months of life. + +Jaundice. Jaundicewhen the skin and whites of the eyes turn yellowis a result of the liver not removing bilirubin from the blood. Bilirubin is a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. Bilirubin is absorbed by the liver, processed, and released into bile. Blockage of the bile ducts forces bilirubin and other elements of bile to build up in the blood. + +Jaundice may be difficult for parents and even health care providers to detect. Many healthy newborns have mild jaundice during the first 1 to 2 weeks of life due to an immature liver. This normal type of jaundice disappears by the second or third week of life, whereas the jaundice of Alagille syndrome deepens. Newborns with jaundice after 2 weeks of life should be seen by a health care provider to check for a possible liver problem. + +Dark urine and gray or white stools. High levels of bilirubin in the blood that pass into the urine can make the urine darker, while stool lightens from a lack of bilirubin reaching the intestines. Gray or white bowel movements after 2 weeks of age are a reliable sign of a liver problem and should prompt a visit to a health care provider. + +Pruritus. The buildup of bilirubin in the blood may cause itching, also called pruritus. Pruritus usually starts after 3 months of age and can be severe. + +Xanthomas. Xanthomas are fatty deposits that appear as yellow bumps on the skin. They are caused by abnormally high cholesterol levels in the blood, common in people with liver disease. Xanthomas may appear anywhere on the body. However, xanthomas are usually found on the elbows, joints, tendons, knees, hands, feet, or buttocks. + +Other Signs and Symptoms of Alagille Syndrome + +Certain signs of Alagille syndrome are unique to the disorder, including those that affect the vertebrae and facial features. + +Face. Many children with Alagille syndrome have deep-set eyes, a straight nose, a small and pointed chin, large ears, and a prominent, wide forehead. These features are not usually recognized until after infancy. By adulthood, the chin is more prominent. + +Eyes. Posterior embryotoxon is a condition in which an opaque ring is present in the cornea, the transparent covering of the eyeball. The abnormality is common in people with Alagille syndrome, though it usually does not affect vision. + +Skeleton. The most common skeletal defect in a person with Alagille syndrome is when the shape of the vertebraebones of the spinegives the appearance of flying butterflies. This defect, known as ""butterfly"" vertebrae, rarely causes medical problems or requires treatment. + +Heart and blood vessels. People with Alagille syndrome may have the following signs and symptoms having to do with the heart and blood vessels: + +- heart murmuran extra or unusual sound heard during a heartbeat. A heart murmur is the most common sign of Alagille syndrome other than the general symptoms of liver disease.1 Most people with Alagille syndrome have a narrowing of the blood vessels that carry blood from the heart to the lungs.1 This narrowing causes a murmur that can be heard with a stethoscope. Heart murmurs usually do not cause problems. - heart walls and valve problems. A small number of people with Alagille syndrome have serious problems with the walls or valves of the heart. These conditions may need treatment with medications or corrective surgery. - blood vessel problems. People with Alagille syndrome may have abnormalities of the blood vessels in the head and neck. This serious complication can lead to internal bleeding or stroke. Alagille syndrome can also cause narrowing or bulging of other blood vessels in the body. + +Kidney disease. A wide range of kidney diseases can occur in Alagille syndrome. The kidneys are two bean-shaped organs, each about the size of a fist, that filter wastes and extra fluid from the blood. Some people have small kidneys or have cystsfluid-filled sacsin the kidneys. Kidney function can also decrease.",NIDDK,Alagille Syndrome +What are the complications of Alagille Syndrome ?,"The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below. + +Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor. + +Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems. + +Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth. + +Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays. + +Long-term Outlook + +The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3 + +Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.",NIDDK,Alagille Syndrome +How to diagnose Alagille Syndrome ?,"A health care provider diagnoses Alagille syndrome by performing a thorough physical exam and ordering one or more of the following tests and exams: + +- blood test - urinalysis - x ray - abdominal ultrasound - cardiology exam - slit-lamp exam - liver biopsy - genetic testing + +Alagille syndrome can be difficult to diagnose because the signs and symptoms vary and the syndrome is so rare. + +For a diagnosis of Alagille syndrome, three of the following symptoms typically should be present: + +- liver symptoms, such as jaundice, pruritus, malabsorption, and xanthomas - heart abnormalities or murmurs - skeletal abnormalities - posterior embryotoxon - facial features typical of Alagille syndrome - kidney disease - blood vessel problems + +A health care provider may perform a liver biopsy to diagnose Alagille syndrome; however, it is not necessary to make a diagnosis. A diagnosis can be made in a person who does not meet the clinical criteria of Alagille syndrome yet does have a gene mutation of JAG1. The health care provider may have a blood sample tested to look for the JAG1 gene mutation. The gene mutation can be identified in 94 percent of people with a diagnosis of Alagille syndrome.2 + +Blood test. A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. The blood test can show nutritional status and the presence of liver disease and kidney function. + +Urinalysis. Urinalysis is the testing of a urine sample. The urine sample is collected in a special container in a health care provider's office or a commercial facility and can be tested in the same location or sent to a lab for analysis. Urinalysis can show many problems of the urinary tract and other body systems. The sample may be observed for color, cloudiness, or concentration; signs of drug use; chemical composition, including glucose; the presence of protein, blood cells, or bacteria; or other signs of disease. + +X ray. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the spine area to look for ""butterfly"" vertebrae. The patient will hold his or her breath as the picture is taken so that the picture will not be blurry. The patient may be asked to change position for additional pictures. + +Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The transducer can be moved to different angles to make it possible to examine different organs. In abdominal ultrasound, the health care provider applies a gel to the patient's abdomen and moves a handheld transducer over the skin. The gel allows the transducer to glide easily, and it improves the transmission of the signals. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital, and a radiologist interprets the images; anesthesia is not needed. The images can show an enlarged liver or rule out other conditions. + +Cardiology exam. A cardiologista doctor who treats people who have heart problemsperforms a cardiology exam in a health care provider's office, an outpatient center, or a hospital. During a full exam, a cardiologist may inspect the patient's physical appearance, measure pulse rate and blood pressure, observe the jugular vein, check for rapid or skipped heartbeats, listen for variations in heart sounds, and listen to the lungs. + +Slit-lamp exam. An ophthalmologista doctor who diagnoses and treats all eye diseases and eye disordersperforms a slit-lamp exam to diagnose posterior embryotoxon. The ophthalmologist examines the eye with a slit lamp, a microscope combined with a high-intensity light that shines a thin beam on the eye. While sitting in a chair, the patient will rest his or her head on the slit lamp. A yellow dye may be used to examine the cornea and tear layer. The dye is applied as a drop, or the specialist may touch a strip of paper stained with the dye to the white of the patient's eye. The specialist will also use drops in the patient's eye to dilate the pupil. + +Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The patient may be asked to fast for 8 hours before the procedure. + +During the procedure, the patient lies on a table, right hand resting above the head. A local anesthetic is applied to the area where the biopsy needle will be inserted. If needed, sedatives and pain medication are also given. The health care provider uses a needle to take a small piece of liver tissue. The health care provider may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient should lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. + +Genetic testing. The health care provider may refer a person suspected of having Alagille syndrome to a geneticista doctor who specializes in genetic disorders. For a genetic test, the geneticist takes a blood or saliva sample and analyzes the DNA for the JAG1 gene mutation. The geneticist tests for the JAG1 gene mutation first, since it is more common in Alagille syndrome than NOTCH2. Genetic testing is often done only by specialized labs. The results may not be available for several months because of the complexity of the testing. + +The usefulness of genetic testing for Alagille syndrome is limited by two factors: + +- Detection of a mutated gene cannot predict the onset of symptoms or how serious the disorder will be. - Even if a mutated gene is found, no specific cure for the disorder exists. + + + +When to Consider Genetic Counseling People who are considering genetic testing may want to consult a genetics counselor. Genetic counseling can help family members understand how test results may affect them individually and as a family. Genetic counseling is provided by genetics professionalshealth care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetics counselors, and genetics nurses. Genetics professionals work as members of health care teams, providing information and support to individuals or families who have genetic disorders or a higher chance of having an inherited condition. Genetics professionals - assess the likelihood of a genetic disorder by researching a family's history, evaluating medical records, and conducting a physical exam of the patient and other family members - weigh the medical, social, and ethical decisions surrounding genetic testing - provide support and information to help a person make a decision about testing - interpret the results of genetic tests and medical data - provide counseling or refer individuals and families to support services - serve as patient advocates - explain possible treatments or preventive measures - discuss reproductive options Genetic counseling may be useful when a family member is deciding whether to have genetic testing and again later when test results are available.",NIDDK,Alagille Syndrome +What are the treatments for Alagille Syndrome ?,"Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Other treatments address specific symptoms of the disorder. + +Liver failure. People with Alagille syndrome who develop end-stage liver failure need a liver transplant with a whole liver from a deceased donor or a segment of a liver from a living donor. People with Alagille syndrome who also have heart problems may not be candidates for a transplant because they could be more likely to have complications during and after the procedure. A liver transplant surgical team performs the transplant in a hospital. + +More information is provided in the NIDDK health topic, Liver Transplantation. + +Pruritus. Itching may decrease when the flow of bile from the liver is increased. Medications such as cholestyramine (Prevalite), rifampin (Rifadin, Rimactane), naltrexone (Vivitrol), or antihistamines may be prescribed to relieve pruritus. People should hydrate their skin with moisturizers and keep their fingernails trimmed to prevent skin damage from scratching. People with Alagille syndrome should avoid baths and take short showers to prevent the skin from drying out. + +If severe pruritus does not improve with medication, a procedure called partial external biliary diversion may provide relief from itching. The procedure involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomencalled a stomathrough which bile leaves the body and is collected in a pouch. A surgeon performs partial external biliary diversion in a hospital. The patient will need general anesthesia. + +Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb much-needed fat. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. They may also need additional zinc. If someone with Alagille syndrome does not tolerate oral doses of vitamins, a health care provider may give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a health care provider may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. A child's growth may improve with increased nutrition and flow of bile from the liver. + +Xanthomas. For someone who has Alagille syndrome, these fatty deposits typically worsen over the first few years of life and then improve over time. They may eventually disappear in response to partial external biliary diversion or the medications used to increase bile flow.",NIDDK,Alagille Syndrome +How to prevent Alagille Syndrome ?,"Scientists have not yet found a way to prevent Alagille syndrome. However, complications of the disorder can be managed with the help of health care providers. Routine visits with a health care team are needed to prevent complications from becoming worse.",NIDDK,Alagille Syndrome +What to do for Alagille Syndrome ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Alagille syndrome. However, these factors are important for people with Alagille syndrome, particularly children, who are malnourished, growing poorly, or have delayed puberty. Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition. + +A nutritionist or a dietitiana person with training in nutrition and dietcan work with someone with Alagille syndrome and his or her health care team to build an appropriate healthy eating plan. A person with Alagille syndrome may need to take dietary supplements or vitamins in addition to eating a set number of calories, based on the type of complications the person has. Researchers consider good nutrition to be one of the most important aspects of managing the disorder. + +If potential liver problems are present, a person with Alagille syndrome should not drink alcoholic beverages without talking with his or her health care provider first. + +Additionally, eating, diet, and nutrition play a part in overall health and preventing further health problems.",NIDDK,Alagille Syndrome +What to do for Alagille Syndrome ?,"- Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. - A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. - In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease. - Alagille syndrome is caused by a gene mutation, or defect. Approximately 30 to 50 percent of people with Alagille syndrome have an inherited gene mutation, meaning it has been passed on by a parent. - Alagille syndrome occurs in about one of every 30,000 live births. The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. - The gene mutations that cause Alagille syndrome may cause mild or subtle symptoms. Some people may not know they are affected. - The signs and symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation. - In some people, problems in the liver may be the first signs and symptoms of the disorder. - The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. - Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant. - A health care provider diagnoses Alagille syndrome by performing a thorough physical exam and other tests. - Genetic counseling can help family members understand how genetic test results may affect them individually and as a family. - Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. - Scientists have not yet found a way to prevent Alagille syndrome. - Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition.",NIDDK,Alagille Syndrome +What is (are) IgA Nephropathy ?,"IgA nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. IgA is an antibodya protein made by the immune system to protect the body from foreign substances such as bacteria or viruses. Most people with IgA nephropathy receive care from a nephrologist, a doctor who specializes in treating people with kidney disease.",NIDDK,IgA Nephropathy +What causes IgA Nephropathy ?,"Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system harming the kidneys. + +People with IgA nephropathy have an increased blood level of IgA that contains less of a special sugar, galactose, than normal. This galactose-deficient IgA is considered foreign by other antibodies circulating in the blood. As a result, these other antibodies attach to the galactose-deficient IgA and form a clump. This clump is also called an immune complex. Some of the clumps become stuck in the glomerulus of the nephron and cause inflammation and damage. + +For some people, IgA nephropathy runs in families. Scientists have recently found several genetic markers that may play a role in the development of the disease. IgA nephropathy may also be related to respiratory or intestinal infections and the immune systems response to these infections.",NIDDK,IgA Nephropathy +How many people are affected by IgA Nephropathy ?,"IgA nephropathy is one of the most common kidney diseases, other than those caused by diabetes or high blood pressure.1 + +IgA nephropathy can occur at any age, although the first evidence of kidney disease most frequently appears when people are in their teens to late 30s.2 IgA nephropathy in the United States is twice as likely to appear in men than in women.3 While found in people all over the world, IgA nephropathy is more common among Asians and Caucasians.4 + +A person may be more likely to develop IgA nephropathy if + +- he or she has a family history of IgA nephropathy or Henoch-Schnlein purpuraa disease that causes small blood vessels in the body to become inflamed and leak - he is a male in his teens to late 30s - he or she is Asian or Caucasian",NIDDK,IgA Nephropathy +What are the symptoms of IgA Nephropathy ?,"In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. Once symptoms appear, the most common one is hematuria, or blood in the urine. Hematuria can be a sign of damaged glomeruli. Blood in the urine may appear during or soon after a cold, sore throat, or other respiratory infection. The amount of blood may be + +- visible with the naked eye. The urine may turn pink or the color of tea or cola. Sometimes a person may have dark or bloody urine. - so small that it can only be detected using special medical tests. + +Another symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. Albumin is the main protein in the blood. Healthy kidneys keep most proteins in the blood from leaking into the urine. However, when the glomeruli are damaged, large amounts of protein leak out of the blood into the urine. + +When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body. Too much fluid in the body may cause edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face. Foamy urine is another sign of albuminuria. Some people with IgA nephropathy have both hematuria and albuminuria. + +After 10 to 20 years with IgA nephropathy, about 20 to 40 percent of adults develop end-stage kidney disease.5 Signs and symptoms of end-stage kidney disease may include + +- high blood pressure - little or no urination - edema - feeling tired - drowsiness - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps",NIDDK,IgA Nephropathy +What are the complications of IgA Nephropathy ?,"Complications of IgA nephropathy include + +- high blood pressure - acute kidney failuresudden and temporary loss of kidney function - chronic kidney failurereduced kidney function over a period of time - nephrotic syndromea collection of symptoms that indicate kidney damage; symptoms include albuminuria, lack of protein in the blood, and high blood cholesterol levels - heart or cardiovascular problems - Henoch-Schnlein purpura + +More information is provided in the NIDDK health topics, Kidney Disease and Kidney Failure.",NIDDK,IgA Nephropathy +How to diagnose IgA Nephropathy ?,"A health care provider diagnoses kidney disease with + +- a medical and family history - a physical exam - urine tests - a blood test + +Medical and Family History + +Taking a medical and family history may help a health care provider diagnose kidney disease. + +Physical Exam + +A physical exam may help diagnose kidney disease. During a physical exam, a health care provider usually + +- measures the patients blood pressure - examines the patients body for swelling + +Urine Tests + +Dipstick test for albumin and blood. A dipstick test performed on a urine sample can detect the presence of albumin and blood. The patient provides a urine sample in a special container in a health care providers office or a commercial facility. A nurse or technician can test the sample in the same location, or he or she can send it to a lab for analysis. The test involves placing a strip of chemically treated paper, called a dipstick, into the patients urine sample. Patches on the dipstick change color when albumin or blood is present in urine. + +Urine albumin-to-creatinine ratio. A health care provider uses this measurement, which compares the amount of albumin with the amount of creatinine in a urine sample, to estimate 24-hour albumin excretion. A patient may have chronic kidney disease if the urine albumin-to-creatinine ratio is greater than 30 milligrams (mg) of albumin for each gram (g) of creatinine (30 mg/g). This measurement is also called UACR. + +Blood Test + +A blood test involves having blood drawn at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may order a blood test to estimate how much blood a patients kidneys filter each minutea measurement called the estimated glomerular filtration rate (eGFR). Depending on the results, the test can indicate the following: + +- eGFR of 60 or above is in the normal range - eGFR below 60 may indicate kidney disease - eGFR of 15 or below may indicate kidney failure",NIDDK,IgA Nephropathy +How to diagnose IgA Nephropathy ?,"Currently, health care providers do not use blood or urine tests as reliable ways to diagnose IgA nephropathy; therefore, the diagnosis of IgA nephropathy requires a kidney biopsy. + +A kidney biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A health care provider performs a kidney biopsy in a hospital or an outpatient center with light sedation and a local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the kidney tissue with a microscope. Only a biopsy can show the IgA deposits in the glomeruli. The biopsy can also show how much kidney damage has already occurred. The biopsy results can help the health care provider determine the best course of treatment.",NIDDK,IgA Nephropathy +What are the treatments for IgA Nephropathy ?,"Researchers have not yet found a specific cure for IgA nephropathy. Once the kidneys are scarred, they cannot be repaired. Therefore, the ultimate goal of IgA nephropathy treatment is to prevent or delay end-stage kidney disease. A health care provider may prescribe medications to + +- control a persons blood pressure and slow the progression of kidney disease - remove extra fluid from a persons blood - control a persons immune system - lower a persons blood cholesterol levels + +Control Blood Pressure and Slow Progression of Kidney Disease + +People with IgA nephropathy that is causing high blood pressure may need to take medications that lower blood pressure and can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medicationsangiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs)have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. A person may also need beta-blockers, calcium channel blockers, and other blood pressure medications. + +Remove Extra Fluid + +A health care provider may prescribe a diuretic, a medication that helps the kidneys remove extra fluid from the blood. Removing the extra fluid can improve the control of blood pressure. Taking a diuretic along with an ACE inhibitor or an ARB often increases the effectiveness of these medications. + +Control the Immune System + +Health care providers sometimes use medications to control a persons immune system. Since inflammation is the immune systems normal response, controlling the immune system can decrease inflammation. Health care providers may prescribe the following medications: + +- corticosteroids, such as prednisone - cyclophosphamide + +Lower Blood Cholesterol Levels + +People with IgA nephropathy may develop high blood cholesterol levels. Cholesterol is a type of fat found in the bodys cells, in blood, and in many foods. People who take medications for high blood cholesterol levels can lower their blood cholesterol levels. A health care provider may prescribe one of several cholesterol-lowering medications called statins.",NIDDK,IgA Nephropathy +How to prevent IgA Nephropathy ?,"Researchers have not found a way to prevent IgA nephropathy. People with a family history of IgA nephropathy should talk with their health care provider to find out what steps they can take to keep their kidneys healthy, such as controlling their blood pressure and keeping their blood cholesterol at healthy levels.",NIDDK,IgA Nephropathy +What to do for IgA Nephropathy ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing IgA nephropathy. Health care providers may recommend that people with kidney disease, such as IgA nephropathy, make dietary changes such as + +- limiting dietary sodium, often from salt, to help reduce edema and lower blood pressure - decreasing liquid intake to help reduce edema and lower blood pressure - eating a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood + +Health care providers may also recommend that people with kidney disease eat moderate or reduced amounts of protein, although the benefit of reducing protein in a persons diet is still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. People with kidney disease on a restricted protein diet should receive blood tests that can show nutrient levels. + +Some researchers have shown that fish oil supplements containing omega-3 fatty acids may slow kidney damage in some people with kidney disease by lowering blood pressure. Omega-3 fatty acids may help reduce inflammation and slow kidney damage due to IgA nephropathy. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/supplements. + +People with IgA nephropathy should talk with a health care provider about dietary changes to best manage their individual needs.",NIDDK,IgA Nephropathy +What to do for IgA Nephropathy ?,"- Immunoglobulin A (IgA) nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. - Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system attacking tissues in the kidney. - IgA nephropathy is one of the most common kidney diseases, other than those caused by diabetes or high blood pressure. - In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. - Once symptoms appear, the most common one is hematuria, or blood in the urine. - Another symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. - Currently, health care providers do not use blood or urine tests as reliable ways to diagnose IgA nephropathy; therefore, the diagnosis of IgA nephropathy requires a kidney biopsy. - Researchers have not yet found a specific cure for IgA nephropathy.",NIDDK,IgA Nephropathy +What is (are) Hemorrhoids ?,"Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. The rectum is the last part of the large intestine leading to the anus. The anus is the opening at the end of the digestive tract where bowel contents leave the body. + +External hemorrhoids are located under the skin around the anus. Internal hemorrhoids develop in the lower rectum. Internal hemorrhoids may protrude, or prolapse, through the anus. Most prolapsed hemorrhoids shrink back inside the rectum on their own. Severely prolapsed hemorrhoids may protrude permanently and require treatment.",NIDDK,Hemorrhoids +What are the symptoms of Hemorrhoids ?,"The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching. + +Blood clots may form in external hemorrhoids. A blood clot in a vein is called a thrombosis. Thrombosed external hemorrhoids cause bleeding, painful swelling, or a hard lump around the anus. When the blood clot dissolves, extra skin is left behind. This skin can become irritated or itch. + +Excessive straining, rubbing, or cleaning around the anus may make symptoms, such as itching and irritation, worse. + +Hemorrhoids are not dangerous or life threatening. Symptoms usually go away within a few days, and some people with hemorrhoids never have symptoms.",NIDDK,Hemorrhoids +How many people are affected by Hemorrhoids ?,About 75 percent of people will have hemorrhoids at some point in their lives.1 Hemorrhoids are most common among adults ages 45 to 65.2 Hemorrhoids are also common in pregnant women.,NIDDK,Hemorrhoids +What causes Hemorrhoids ?,"Swelling in the anal or rectal veins causes hemorrhoids. Several factors may cause this swelling, including + +- chronic constipation or diarrhea - straining during bowel movements - sitting on the toilet for long periods of time - a lack of fiber in the diet + +Another cause of hemorrhoids is the weakening of the connective tissue in the rectum and anus that occurs with age. + +Pregnancy can cause hemorrhoids by increasing pressure in the abdomen, which may enlarge the veins in the lower rectum and anus. For most women, hemorrhoids caused by pregnancy disappear after childbirth.",NIDDK,Hemorrhoids +How to diagnose Hemorrhoids ?,"The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps. + +The doctor will perform a physical exam to look for visible hemorrhoids. A digital rectal exam with a gloved, lubricated finger and an anoscopea hollow, lighted tubemay be performed to view the rectum. + +A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. Bleeding may be a symptom of other digestive diseases, including colorectal cancer. + +Additional exams may be done to rule out other causes of bleeding, especially in people age 40 or older: + +- Colonoscopy. A flexible, lighted tube called a colonoscope is inserted through the anus, the rectum, and the upper part of the large intestine, called the colon. The colonoscope transmits images of the inside of the rectum and the entire colon. - Sigmoidoscopy. This procedure is similar to colonoscopy, but it uses a shorter tube called a sigmoidoscope and transmits images of the rectum and the sigmoid colon, the lower portion of the colon that empties into the rectum. - Barium enema x ray. A contrast material called barium is inserted into the colon to make the colon more visible in x ray pictures.",NIDDK,Hemorrhoids +What are the treatments for Hemorrhoids ?,"At-home Treatments + +Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining. + +Fiber is a substance found in plants. The human body cannot digest fiber, but fiber helps improve digestion and prevent constipation. Good sources of dietary fiber are fruits, vegetables, and whole grains. On average, Americans eat about 15 grams of fiber each day.3 The American Dietetic Association recommends 25 grams of fiber per day for women and 38 grams of fiber per day for men.3 + +Doctors may also suggest taking a bulk stool softener or a fiber supplement such as psyllium (Metamucil) or methylcellulose (Citrucel). + +Other changes that may help relieve hemorrhoid symptoms include + +- drinking six to eight 8-ounce glasses of water or other nonalcoholic fluids each day - sitting in a tub of warm water for 10 minutes several times a day - exercising to prevent constipation - not straining during bowel movements + +Over-the-counter creams and suppositories may temporarily relieve the pain and itching of hemorrhoids. These treatments should only be used for a short time because long-term use can damage the skin. + +Medical Treatment + +If at-home treatments do not relieve symptoms, medical treatments may be needed. Outpatient treatments can be performed in a doctor's office or a hospital. Outpatient treatments for internal hemorrhoids include the following: + +- Rubber band ligation. The doctor places a special rubber band around the base of the hemorrhoid. The band cuts off circulation, causing the hemorrhoid to shrink. This procedure should be performed only by a doctor. - Sclerotherapy. The doctor injects a chemical solution into the blood vessel to shrink the hemorrhoid. - Infrared coagulation. The doctor uses heat to shrink the hemorrhoid tissue. + +Large external hemorrhoids or internal hemorrhoids that do not respond to other treatments can be surgically removed.",NIDDK,Hemorrhoids +What to do for Hemorrhoids ?,"- Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. - Hemorrhoids are not dangerous or life threatening, and symptoms usually go away within a few days. - A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. - Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. - If at-home treatments do not relieve symptoms, medical treatments may be needed.",NIDDK,Hemorrhoids +What is (are) Anemia of Inflammation and Chronic Disease ?,"Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. Hemoglobin is an iron-rich protein that gives blood its red color and lets red blood cells transport oxygen from the lungs to the bodys tissues. Therefore, low numbers of red blood cells or low levels of hemoglobin also cause low blood iron levels. + +People with anemia may feel tired because their blood does not supply enough oxygen to the bodys organs and tissues. If anemia becomes severe and prolonged, the lack of oxygen in the blood can lead to shortness of breath or exercise intolerancea condition in which a person becomes easily fatigued during or after physical activityand eventually can cause the heart and other organs to fail.",NIDDK,Anemia of Inflammation and Chronic Disease +What is (are) Anemia of Inflammation and Chronic Disease ?,"Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD. + +AI/ACD is easily confused with iron-deficiency anemia because in both forms of anemia levels of iron circulating in the blood are low. Iron in the body is found both circulating in the blood and stored in body tissues. Circulating iron is necessary for red blood cell production. Low blood iron levels occur in iron-deficiency anemia because levels of the iron stored in the bodys tissues are depleted. In AI/ACD, however, iron stores are normal or high. Low blood iron levels occur in AI/ACD, despite normal iron stores, because inflammatory and chronic diseases interfere with the bodys ability to use stored iron and absorb iron from the diet. AI/ACD is the second most common form of anemia, after iron-deficiency anemia.1",NIDDK,Anemia of Inflammation and Chronic Disease +Who is at risk for Anemia of Inflammation and Chronic Disease? ?,"While AI/ACD can affect people at any age, older adults are especially at risk because they have the highest rates of chronic disease. AI/ACD is also common among hospitalized patients, particularly those with chronic illnesses. + +More than 130 million Americans live with at least one chronic illness.2 Addressing the causes of anemia in people with chronic disease can help improve their health and quality of life.",NIDDK,Anemia of Inflammation and Chronic Disease +What causes Anemia of Inflammation and Chronic Disease ?,"Anemia of inflammation and chronic disease is caused by red blood cells not functioning normally, so they cannot absorb and use iron efficiently. In addition, the body cannot respond normally to erythropoietin (EPO), a hormone made by the kidneys that stimulates bone marrow to produce red blood cells. Over time, this abnormal functioning causes a lower than normal number of red blood cells in the body. + +Some of the chronic diseases that lead to AI/ACD include infectious and inflammatory diseases, kidney disease, and cancer. Certain treatments for chronic diseases may also impair red blood cell production and contribute to AI/ACD. + +Infectious and inflammatory diseases. As part of the immune system response that occurs with infectious and inflammatory diseases, cells of the immune system release proteins called cytokines. Cytokines help heal the body and defend it against infection. However, they can also affect normal body functions. In AI/ACD, immune cytokines interfere with the bodys ability to absorb and use iron. Cytokines may also interfere with the production and normal activity of EPO. + +Infectious diseases that cause AI/ACD include + +- tuberculosis, an infection in the lungs - HIV/AIDS, an infection that destroys the immune system - endocarditis, an infection in the heart - osteomyelitis, a bone infection + +Sometimes, acute infectionsthose that develop quickly and may not last longcan also cause AI/ACD. + +Inflammatory diseases that can lead to AI/ACD include + +- rheumatoid arthritis, which causes pain, swelling, stiffness, and loss of function in the joints - lupus, which causes damage to various body tissues, such as the joints, skin, kidneys, heart, lungs, blood vessels, and brain - diabetes, in which levels of blood glucose, also called blood sugar, are above normal - heart failure, in which the heart cannot pump enough blood to meet the bodys needs - inflammatory bowel disease (IBD), diseases that cause inflammation and irritation in the intestines + +IBD, including Crohns disease, can also cause iron deficiency due to poor absorption of iron by the diseased intestine and bleeding from the gastrointestinal (GI) tract. + +Kidney disease. People with kidney disease can develop anemia for several different reasons. Diseased kidneys often fail to make enough EPO. In addition, kidney disease results in abnormal absorption and use of iron, which is typical of AI/ACD. Anemia worsens as kidney disease advances. Therefore, most people with kidney failure have anemia. Kidney failure is described as end-stage kidney disease, sometimes called ESRD, when treated with a kidney transplant or blood-filtering treatments called dialysis. + +People with kidney failure can also develop iron deficiency due to blood loss during hemodialysis, a type of dialysis that uses a special filter called a dialyzer to remove wastes from the blood. Low levels of iron and folic acidanother nutrient required for normal red blood cell productionmay also contribute to anemia in people with kidney disease. + +Cancer. AI/ACD can occur with certain types of cancer, including Hodgkins disease, non-Hodgkins lymphoma, and breast cancer. Like infectious and inflammatory diseases, these types of cancer cause inflammatory cytokines to be released in the body. Anemia can also be made worse by chemotherapy and radiation treatments that damage the bone marrow, and by the cancers invasion of bone marrow.",NIDDK,Anemia of Inflammation and Chronic Disease +What are the symptoms of Anemia of Inflammation and Chronic Disease ?,"Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to + +- fatigue - weakness - pale skin - a fast heartbeat - shortness of breath - exercise intolerance",NIDDK,Anemia of Inflammation and Chronic Disease +How to diagnose Anemia of Inflammation and Chronic Disease ?,"To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). A blood test involves drawing a persons blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The CBC includes a measurement of a persons hematocrit, the percentage of the blood that consists of red blood cells. The CBC also measures the amount of hemoglobin in the blood and can show whether a person has a lower than normal number of red blood cells. + +In addition to measuring hematocrit and hemoglobin, the CBC includes two other measurements to show whether a person has enough iron: + +- The ferritin level indicates the amount of iron stored in the body. A ferritin score below 200 nanograms per liter is a sign that a person may have an iron deficiency. - The transferrin saturation (TSAT) is a score that indicates how much iron is available, or circulating, to make red blood cells. A TSAT score below 20 percent is another sign of iron deficiency.3 + +A CBC result that shows low iron levels in the blood yet normal measures of iron stores in the body is a hallmark of AI/ACD.",NIDDK,Anemia of Inflammation and Chronic Disease +What are the treatments for Anemia of Inflammation and Chronic Disease ?,"Anemia of inflammation and chronic disease often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflammatory medications prescribed for rheumatoid arthritis or IBD can cause AI/ACD to disappear. However, AI/ACD is increasingly being viewed as a medical condition that merits direct treatment. + +For people with cancer or kidney disease who have low levels of EPO, a synthetic form of EPO may be prescribed. A health care provider usually injects EPO subcutaneouslyunder the skintwo or three times a week. A person may be taught how to inject the EPO at home. People on hemodialysis who cannot tolerate EPO shots may receive EPO intravenously during hemodialysis. + +If iron deficiency has a role in causing AI/ACD, a person may need iron supplements to raise hematocrit to a target level. Iron supplements can be taken by pill, subcutaneously, or intravenously during hemodialysis. + +People with kidney disease and AI/ACD may also be advised to take vitamin B12 and folic acid supplements. A person should talk with a health care provider before taking any supplements. + +More information is provided in the NIDDK health topic, Anemia in Kidney Disease and Dialysis.",NIDDK,Anemia of Inflammation and Chronic Disease +What to do for Anemia of Inflammation and Chronic Disease ?,"People with anemia caused by iron, vitamin B12, or folic acid deficiencies are usually advised to include sources of these nutrients in their diets. + +Dietary sources of iron include + +- beans - breakfast cereals - chicken - enriched bread - spinach - turkey + +Dietary sources of vitamin B12 include + +- beef liver - breakfast cereals - chicken - clams - fish - turkey + +Dietary sources of folic acid include + +- beans - breakfast cereals - chicken - enriched bread - rice - turkey",NIDDK,Anemia of Inflammation and Chronic Disease +What to do for Anemia of Inflammation and Chronic Disease ?,"- Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. - Anemia of inflammation and chronic disease (AI/ACD) is a type of anemia that commonly occurs with chronic illnesses, infections, cancer, or inflammatory disorders. - AI/ACD typically develops slowly and, because it is usually mild, may cause few or no symptoms. Sometimes, AI/ACD can cause or contribute to fatigue, weakness, pale skin, a fast heartbeat, shortness of breath, and exercise intolerance. - To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). - AI/ACD often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness.",NIDDK,Anemia of Inflammation and Chronic Disease +What is (are) Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. Doctors call this lining the peritoneum. A doctor will place a soft tube, called a catheter, in your belly a few weeks before you start treatment. + +When you start peritoneal dialysis, dialysis solutionwater with salt and other additivesflows from a bag through the catheter into your belly. When the bag is empty, you can disconnect your catheter from the bag and cap it so you can move around and do your normal activities. While the dialysis solution is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the used dialysis solution into a drain bag. You can then dispose of the used dialysis solution, which is now full of wastes and extra fluid, in a toilet or down the drain of a sink or bathtub. Then you start over with a fresh bag of dialysis solution. + +The process of first draining the used dialysis solution and then replacing it with fresh solution is called an exchange. Most people do four to six exchanges every day, or during the night using a machine that moves the fluid in and out. The process goes on continuously, so you always have dialysis solution in your belly soaking up wastes and extra fluid from your body. For the best results from peritoneal dialysis, it is important that you perform all of your exchanges as your doctor instructs.",NIDDK,Treatment Methods for Kidney Failure: Peritoneal Dialysis +What is (are) Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysisalso called CAPDand automated peritoneal dialysiswhich doctors sometimes call APD or continuous cycler-assisted peritoneal dialysis. After learning about the types of peritoneal dialysis, you can choose the type that best fits your schedule and lifestyle. If one schedule or type of peritoneal dialysis does not suit you, you can talk with your doctor about trying another type. + +- Continuous ambulatory peritoneal dialysis does not require a machine. You can do it in any clean, well-lit place. The time period that the dialysis solution is in your belly is called the dwell time. With continuous ambulatory peritoneal dialysis, the dialysis solution stays in your belly for a dwell time of 4 to 6 hours, or more. Each exchange takes about 30 to 40 minutes. During an exchange, you can read, talk, watch television, or sleep. Usually, you change the dialysis solution at least four times a day and sleep with solution in your belly at night. You do not have to wake up and perform exchanges during the night. - Automated peritoneal dialysis uses a machine called a cycler to fill and empty your belly three to five times during the night while you sleep. In the morning, you begin one exchange with a daylong dwell time. You may do an additional exchange around the middle of the afternoon without the cycler to increase the amount of waste removed and reduce the amount of fluid left behind in your body. + +If you weigh more than 175 pounds or if your peritoneum filters wastes slowly, you may need a combination of continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. For example, some people use a cycler at night and perform one exchange during the day. Your health care team will help you determine the best schedule for you.",NIDDK,Treatment Methods for Kidney Failure: Peritoneal Dialysis +What are the treatments for Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"Your health care team will perform several tests to tell if your dialysis exchanges are removing enough wastes. These tests are especially important during the first weeks of treatment to determine whether your schedule is adequate. + +Peritoneal Equilibration Test + +For a peritoneal equilibration test, a dialysis nurse takes samples of your blood and dialysis solution during a 4-hour exchange. The peritoneal equilibration test measures how much dextrose your body absorbs from a bag of dialysis solution. The peritoneal equilibration test also measures how much urea and creatininewaste products of normal muscle and protein breakdownmove from your blood into the dialysis solution. + +Clearance Test + +For a clearance test, you will collect the used dialysis solution from a 24-hour period. A dialysis nurse takes a blood sample during the same 24-hour period. Your doctor or nurse compares the amount of urea in the used solution with the amount in your blood to see how much urea was removed. For the first months or even years of peritoneal dialysis treatment, you may still produce small amounts of urine. If you produce more than 100 milliliters (3 ounces) of urine per day, you will also collect your urine to measure its urea content. + +From the measurements of used solution, blood, and, if available, urine, your health care team can determine your urea clearancea measurement doctors call your Kt/Vand your creatinine clearance rate. These measurements will show whether you are using the right peritoneal dialysis schedule and doses. If your dialysis schedule is not removing enough wastes, your doctor will make adjustments. More information is provided in the NIDDK health topic, Peritoneal Dialysis Dose and Adequacy.",NIDDK,Treatment Methods for Kidney Failure: Peritoneal Dialysis +What to do for Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"Eating the right foods can help you feel better while on peritoneal dialysis. Talk with your dialysis centers dietitian to find a meal plan that works for you. Your dietary needs will depend on your treatment and other factors such as your weight and activity level. Staying healthy with CKD requires watching what is in your diet: + +- Protein is in foods from animals and plants. Protein provides the building blocks that maintain and repair muscles, organs, and other parts of your body. Peritoneal dialysis can remove proteins from your body, so eat high-quality, protein-rich foods such as meat, fish, and eggs. However, many high-protein foods also contain phosphorous, which can weaken your bones. Talk with your dietitian about ways to get the protein you need without getting too much phosphorous. - Phosphorus is a mineral that helps your bones stay healthy and your blood vessels and muscles work. Phosphorus is a natural part of foods rich in protein, and food producers often add it to many processed foods. Phosphorus can weaken your bones and make your skin itch if you consume too much. Peritoneal dialysis may not remove enough phosphorus from your body, so you will probably need to limit or avoid high-phosphorus foods such as milk and cheese, dried beans, peas, colas, nuts, and peanut butter. You may also need to take a pill called a phosphate binder that keeps phosphorus in your food from entering your bloodstream. - Fluid includes water and drinks such as fruit juice and milk and water in foods such as fruits, vegetables, ice cream, gelatin, soup, and ice pops. You need water for your body to function properly; however, too much can cause swelling and make your heart work harder. Over time, having too much fluid in your body can cause high blood pressure and congestive heart failure. Peritoneal dialysis might cause you to have either too much or too little fluid, depending on the strength of the solution you use. Your diet can also influence whether you have too much or too little fluid. Your dietitian will help you determine how much liquid you need to consume each day. - Sodium is a part of salt. Many canned, packaged, frozen, and fast foods contain sodium. Sodium is also a part of many condiments, seasonings, and meats. Too much sodium makes you thirsty, which makes you drink more liquid. Try to eat fresh foods that are naturally low in sodium, and look for products that say low sodium on the label, especially in canned and frozen foods. - Potassium is a mineral that helps your nerves and muscles work the right way. Peritoneal dialysis can pull too much potassium from your blood, so you may need to eat more high-potassium foods such as bananas, oranges, potatoes, and tomatoes. However, be careful not to eat too much potassium. Your dietitian will help you choose the right amount. - Calories are units for measuring the energy provided by foods and drinks. Eating foods with too many calories, such as oily and sugary foods, can make you gain weight. Your body can absorb the dextrose from your dialysis solution, which can increase your calorie intake. You may find you need to take in fewer calories to prevent weight gain. Your dietitian can help you create and follow a diet to stay at a healthy weight. - Supplements help provide some of the vitamins and minerals that may be missing from your diet. Peritoneal dialysis also removes some vitamins from your body. Your doctor may prescribe a vitamin and mineral supplement that scientists have designed specifically for people with CKD and kidney failure. Never take vitamin and mineral supplements that you can buy over the counter. They may be harmful to you. Talk with your doctor before taking any medicine, including vitamin and mineral supplements, that he or she has not prescribed for you. + +You may have a difficult time changing your diet at first. Eating the right foods will help you feel better. You will have more strength and energy. More information is provided in the NIDDK health topic, Make the Kidney Connection: Food Tips and Healthy Eating Ideas.",NIDDK,Treatment Methods for Kidney Failure: Peritoneal Dialysis +What to do for Treatment Methods for Kidney Failure: Peritoneal Dialysis ?,"- Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. - The two types of peritoneal dialysis are continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. - The most common problem with peritoneal dialysis is peritonitis, a serious abdominal infection. - When dialysis solution stays in the body too long, it becomes so full of wastes and extra fluid that it cannot absorb any more from the body. The process may even reverse, letting some wastes and extra fluid back into the body. - Eating the right foods can help you feel better while on peritoneal dialysis. Talk with your dialysis centers dietitian to find a meal plan that works for you.",NIDDK,Treatment Methods for Kidney Failure: Peritoneal Dialysis +What is (are) Primary Hyperparathyroidism ?,"Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. Primary means this disorder originates in the parathyroid glands. In primary hyperparathyroidism, one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). The disorder includes the problems that occur in the rest of the body as a result of too much PTHfor example, loss of calcium from bones. + +In the United States, about 100,000 people develop primary hyperparathyroidism each year.1 The disorder is diagnosed most often in people between age 50 and 60, and women are affected about three times as often as men.2 + +Secondary, or reactive, hyperparathyroidism can occur if a problem such as kidney failure causes the parathyroid glands to be overactive.",NIDDK,Primary Hyperparathyroidism +What is (are) Primary Hyperparathyroidism ?,"The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. In most such cases, however, the parathyroid glands function normally. + +The parathyroid glands are part of the bodys endocrine system. Endocrine glands produce, store, and release hormones, which travel in the bloodstream to target cells elsewhere in the body and direct the cells activity. + +Though their names are similar, the thyroid and parathyroid glands are entirely different glands, each producing distinct hormones with specific functions. The parathyroid glands produce PTH, a hormone that helps maintain the correct balance of calcium in the body. PTH regulates the level of calcium in the blood, release of calcium from bone, absorption of calcium in the small intestine, and excretion of calcium in the urine. + +When the level of calcium in the blood falls too low, normal parathyroid glands release just enough PTH to restore the blood calcium level.",NIDDK,Primary Hyperparathyroidism +What is (are) Primary Hyperparathyroidism ?,"High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones. + +High blood calcium levels might contribute to other problems, such as heart disease, high blood pressure, and difficulty with concentration. However, more research is needed to better understand how primary hyperparathyroidism affects the cardiovascular systemthe heart and blood vesselsand the central nervous systemthe brain and spinal cord.",NIDDK,Primary Hyperparathyroidism +What causes Primary Hyperparathyroidism ?,"In about 80 percent of people with primary hyperparathyroidism, a benign, or noncancerous, tumor called an adenoma has formed in one of the parathyroid glands.2 The tumor causes the gland to become overactive. In most other cases, the excess hormone comes from two or more overactive parathyroid glands, a condition called multiple tumors or hyperplasia. Rarely, primary hyperparathyroidism is caused by cancer of a parathyroid gland. + +In most cases, health care providers dont know why adenoma or multiple tumors occur in the parathyroid glands. Most people with primary hyperparathyroidism have no family history of the disorder, but some cases can be linked to an inherited problem. For example, familial multiple endocrine neoplasia type 1 is a rare, inherited syndrome that causes multiple tumors in the parathyroid glands as well as in the pancreas and the pituitary gland. Another rare genetic disorder, familial hypocalciuric hypercalcemia, causes a kind of hyperparathyroidism that is atypical, in part because it does not respond to standard parathyroid surgery.",NIDDK,Primary Hyperparathyroidism +What are the symptoms of Primary Hyperparathyroidism ?,"Most people with primary hyperparathyroidism have no symptoms. When symptoms appear, they are often mild and nonspecific, such as + +- muscle weakness - fatigue and an increased need for sleep - feelings of depression - aches and pains in bones and joints + +People with more severe disease may have + +- loss of appetite - nausea - vomiting - constipation - confusion or impaired thinking and memory - increased thirst and urination + +These symptoms are mainly due to the high blood calcium levels that result from excessive PTH.",NIDDK,Primary Hyperparathyroidism +How to diagnose Primary Hyperparathyroidism ?,"Health care providers diagnose primary hyperparathyroidism when a person has high blood calcium and PTH levels. High blood calcium is usually the first sign that leads health care providers to suspect parathyroid gland overactivity. Other diseases can cause high blood calcium levels, but only in primary hyperparathyroidism is the elevated calcium the result of too much PTH. + +Routine blood tests that screen for a wide range of conditions, including high blood calcium levels, are helping health care providers diagnose primary hyperparathyroidism in people who have mild forms of the disorder and are symptom-free. For a blood test, blood is drawn at a health care providers office or commercial facility and sent to a lab for analysis.",NIDDK,Primary Hyperparathyroidism +How to diagnose Primary Hyperparathyroidism ?,"Once the diagnosis of primary hyperparathyroidism is established, other tests may be done to assess complications: + +- Bone mineral density test. Dual energy x-ray absorptiometry, sometimes called a DXA or DEXA scan, uses low-dose x rays to measure bone density. During the test, a person lies on a padded table while a technician moves the scanner over the persons body. DXA scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician and may be interpreted by a metabolic bone disease expert or radiologista doctor who specializes in medical imagingor other specialists; anesthesia is not needed. The test can help assess bone loss and risk of fractures. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. The images can show the presence of kidney stones. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can show the presence of kidney stones. - Urine collection. A 24-hour urine collection may be done to measure selected chemicals, such as calcium and creatinine, which is a waste product healthy kidneys remove. The person collects urine over a 24-hour period, and the urine is sent to a laboratory for analysis. The urine collection may provide information on kidney damage, the risk of kidney stone formation, and the risk of familial hypocalciuric hypercalcemia. - 25-hydroxy-vitamin D blood test. This test is recommended because vitamin D deficiency is common in people with primary hyperparathyroidism.",NIDDK,Primary Hyperparathyroidism +What are the treatments for Primary Hyperparathyroidism ?,"Surgery + +Surgery to remove the overactive parathyroid gland or glands is the only definitive treatment for the disorder, particularly if the patient has a very high blood calcium level or has had a fracture or a kidney stone. In patients without any symptoms, guidelines are used to identify who might benefit from parathyroid surgery.3 + +When performed by experienced endocrine surgeons, surgery cures primary hyperparathyroidism in more than 95 percent of operations.2 + +Surgeons often use imaging tests before surgery to locate the overactive gland to be removed. The most commonly used tests are sestamibi and ultrasound scans. In a sestamibi scan, the patient receives an injection of a small amount of radioactive dye that is absorbed by overactive parathyroid glands. The overactive glands can then be viewed using a special camera. + +Surgeons use two main strategies to remove the overactive gland or glands: + +- Minimally invasive parathyroidectomy. This type of surgery, which can be done on an outpatient basis, may be used when only one of the parathyroid glands is likely to be overactive. Guided by a tumor-imaging test, the surgeon makes a small incision in the neck to remove the gland. The small incision means that patients typically have less pain and a quicker recovery than with more invasive surgery. Local or general anesthesia may be used for this type of surgery. - Standard neck exploration. This type of surgery involves a larger incision that allows the surgeon to access and examine all four parathyroid glands and remove the overactive ones. This type of surgery is more extensive and typically requires a hospital stay of 1 to 2 days. Surgeons use this approach if they plan to inspect more than one gland. General anesthesia is used for this type of surgery. + +Almost all people with primary hyperparathyroidism who have symptoms can benefit from surgery. Experts believe that those without symptoms but who meet guidelines for surgery will also benefit from surgery. Surgery can lead to improved bone density and fewer fractures and can reduce the chance of forming kidney stones. Other potential benefits are being studied by researchers. + +Surgery for primary hyperparathyroidism has a complication rate of 13 percent when performed by experienced endocrine surgeons.4 Rarely, patients undergoing surgery experience damage to the nerves controlling the vocal cords, which can affect speech. A small number of patients lose all their healthy parathyroid tissue and thus develop chronic low calcium levels, requiring lifelong treatment with calcium and some form of vitamin D. This complication is called hypoparathyroidism. The complication rate is slightly higher for operations on multiple tumors than for a single adenoma because more extensive surgery is needed. + +People with primary hyperparathyroidism due to familial hypocalciuric hypercalcemia should not have surgery. + +Monitoring + +Some people who have mild primary hyperparathyroidism may not need immediate or even any surgery and can be safely monitored. People may wish to talk with their health care provider about long-term monitoring if they + +- are symptom-free - have only slightly elevated blood calcium levels - have normal kidneys and bone density + +Long-term monitoring should include periodic clinical evaluations, annual serum calcium measurements, annual serum creatinine measurements to check kidney function, and bone density measurements every 1 to 2 years. + +Vitamin D deficiency should be corrected if present. Patients who are monitored need not restrict calcium in their diets. + +If the patient and health care provider choose long-term monitoring, the patient should + +- drink plenty of water - exercise regularly - avoid certain diuretics, such as thiazides + +Either immobilizationthe inability to move due to illness or injuryor gastrointestinal illness with vomiting or diarrhea that leads to dehydration can cause blood calcium levels to rise further in someone with primary hyperparathyroidism. People with primary hyperparathyroidism should seek medical attention if they find themselves immobilized or dehydrated due to vomiting or diarrhea. + +Medications + +Calcimimetics are a new class of medications that decrease parathyroid gland secretion of PTH. The calcimimetic, cinacalcet (Sensipar), has been approved by the U.S. Food and Drug Administration for the treatment of secondary hyperparathyroidism caused by dialysisa blood-filtering treatment for kidney failureand primary hyperparathyroidism caused by parathyroid cancer. Cinacalcet has also been approved for the management of hypercalcemia associated with primary hyperparathyroidism. + +A number of other medications are being studied to learn whether they may be helpful in treating primary hyperparathyroidism. These medications include bisphosphonates and selective estrogen receptor modulators.",NIDDK,Primary Hyperparathyroidism +What to do for Primary Hyperparathyroidism ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing primary hyperparathyroidism. + +Vitamin D. Experts suggest correcting vitamin D deficiency in people with primary hyperparathyroidism to achieve a serum level of 25-hydroxy-vitamin D greater than 20 nanograms per deciliter (50 nanomoles per liter). Research is ongoing to determine optimal doses and regimens of vitamin D supplementation for people with primary hyperparathyroidism. + +For the healthy public, the Institute of Medicine (IOM) guidelines for vitamin D intake are + +- people ages 1 to 70 years may require 600 International Units (IUs) - people age 71 and older may require as much as 800 IUs + +The IOM also recommends that no more than 4,000 IUs of vitamin D be taken per day. + +Calcium. People with primary hyperparathyroidism without symptoms who are being monitored do not need to restrict calcium in their diet. People with low calcium levels due to loss of all parathyroid tissue from surgery will need to take calcium supplements for the rest of their life. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medicine practices, including their use of dietary supplements, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.",NIDDK,Primary Hyperparathyroidism +What to do for Primary Hyperparathyroidism ?,"- Primary hyperparathyroidism is a disorder of the parathyroid glands, in which one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). - High PTH levels trigger the bones to release increased calcium into the blood, causing blood calcium levels to rise above normal. T he loss of calcium from bones may weaken the bones. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones. - Most people with primary hyperparathyroidism have no symptoms. When symptoms appear, they are often mild and nonspecific, such as muscle weakness, fatigue, increased need for sleep, feelings of depression, or aches and pains in bones and joints. - People with more severe primary hyperparathyroidism may have symptoms such as loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. - Health care providers diagnose primary hyperparathyroidism when a person has high blood calcium and PTH levels. - Surgery to remove the overactive parathyroid gland or glands is the only definitive treatment for the disorder. When performed by experienced endocrine surgeons, surgery cures primary hyperparathyroidism in more than 95 percent of operations. Some people who have mild primary hyperparathyroidism may not need immediate or even any surgery and can be safely monitored. People with primary hyperparathyroidism due to familial hypocalciuric hypercalcemia should not have surgery.",NIDDK,Primary Hyperparathyroidism +What is (are) Irritable Bowel Syndrome in Children ?,"Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. IBS is not a disease; it is a group of symptoms that occur together. The most common symptoms of IBS are abdominal pain or discomfort, often reported as cramping, along with diarrhea, constipation, or both. In the past, IBS was called colitis, mucous colitis, spastic colon, nervous colon, and spastic bowel. The name was changed to reflect the understanding that the disorder has both physical and mental causes and is not a product of a persons imagination. + +IBS is diagnosed when a child who is growing as expected has abdominal pain or discomfort once per week for at least 2 months without other disease or injury that could explain the pain. The pain or discomfort of IBS may occur with a change in stool frequency or consistency or may be relieved by a bowel movement.",NIDDK,Irritable Bowel Syndrome in Children +What is (are) Irritable Bowel Syndrome in Children ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. + +The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body.",NIDDK,Irritable Bowel Syndrome in Children +How many people are affected by Irritable Bowel Syndrome in Children ?,"Limited information is available about the number of children with IBS. Older studies have reported prevalence rates for recurrent abdominal pain in children of 10 to 20 percent.1 However, these studies did not differentiate IBS from functional abdominal pain, indigestion, and abdominal migraine. One study of children in North America found that 14 percent of high school students and 6 percent of middle school students have IBS. The study also found that IBS affects boys and girls equally.2",NIDDK,Irritable Bowel Syndrome in Children +What are the symptoms of Irritable Bowel Syndrome in Children ?,"The symptoms of IBS include abdominal pain or discomfort and changes in bowel habits. To meet the definition of IBS, the pain or discomfort should be associated with two of the following three symptoms: + +- start with bowel movements that occur more or less often than usual - start with stool that appears looser and more watery or harder and more lumpy than usual - improve with a bowel movement + +Other symptoms of IBS may include + +- diarrheahaving loose, watery stools three or more times a day and feeling urgency to have a bowel movement - constipationhaving hard, dry stools; two or fewer bowel movements in a week; or straining to have a bowel movement - feeling that a bowel movement is incomplete - passing mucus, a clear liquid made by the intestines that coats and protects tissues in the GI tract - abdominal bloating + +Symptoms may often occur after eating a meal. To meet the definition of IBS, symptoms must occur at least once per week for at least 2 months.",NIDDK,Irritable Bowel Syndrome in Children +What causes Irritable Bowel Syndrome in Children ?,"The causes of IBS are not well understood. Researchers believe a combination of physical and mental health problems can lead to IBS. The possible causes of IBS in children include the following: + +- Brain-gut signal problems. Signals between the brain and nerves of the small and large intestines, also called the gut, control how the intestines work. Problems with brain-gut signals may cause IBS symptoms, such as changes in bowel habits and pain or discomfort. - GI motor problems. Normal motility, or movement, may not be present in the colon of a child who has IBS. Slow motility can lead to constipation and fast motility can lead to diarrhea. Spasms, or sudden strong muscle contractions that come and go, can cause abdominal pain. Some children with IBS also experience hyperreactivity, which is an excessive increase in contractions of the bowel in response to stress or eating. - Hypersensitivity. Children with IBS have greater sensitivity to abdominal pain than children without IBS. Affected children have been found to have different rectal tone and rectal motor response after eating a meal. - Mental health problems. IBS has been linked to mental health, or psychological, problems such as anxiety and depression in children. - Bacterial gastroenteritis. Some children who have bacterial gastroenteritisan infection or irritation of the stomach and intestines caused by bacteriadevelop IBS. Research has shown a connection between gastroenteritis and IBS in adults but not in children. But researchers believe postinfectious IBS does occur in children. Researchers do not know why gastroenteritis leads to IBS in some people and not others. - Small intestinal bacterial overgrowth (SIBO). Normally, few bacteria live in the small intestine. SIBO is an increase in the number of bacteria or a change in the type of bacteria in the small intestine. These bacteria can produce excess gas and may also cause diarrhea and weight loss. Some researchers believe that SIBO may lead to IBS, and some studies have shown antibiotics to be effective in treating IBS. However, the studies were weak and more research is needed to show a link between SIBO and IBS. - Genetics. Whether IBS has a genetic cause, meaning it runs in families, is unclear. Studies have shown that IBS is more common in people with family members who have a history of GI problems. However, the cause could be environmental or the result of heightened awareness of GI symptoms.",NIDDK,Irritable Bowel Syndrome in Children +How to diagnose Irritable Bowel Syndrome in Children ?,"To diagnose IBS, a health care provider will conduct a physical exam and take a complete medical history. The medical history will include questions about the childs symptoms, family members with GI disorders, recent infections, medications, and stressful events related to the onset of symptoms. IBS is diagnosed when the physical exam does not show any cause for the childs symptoms and the child meets all of the following criteria: + +- has had symptoms at least once per week for at least 2 months - is growing as expected - is not showing any signs that suggest another cause for the symptoms + +Further testing is not usually needed, though the health care provider may do a blood test to screen for other problems. Additional diagnostic tests may be needed based on the results of the screening blood test and for children who also have signs such as + +- persistent pain in the upper right or lower right area of the abdomen - joint pain - pain that wakes them from sleep - disease in the tissues around the rectum - difficulty swallowing - persistent vomiting - slowed growth rate - GI bleeding - delayed puberty - diarrhea at night + +Further diagnostic tests may also be needed for children with a family history of + +- inflammatory bowel diseaselong-lasting disorders that cause irritation and ulcers, or sores, in the GI tract - celiac diseasean immune disease in which people cannot tolerate gluten, a protein found in wheat, rye, and barley, because it will damage the lining of their small intestine and prevent absorption of nutrients - peptic ulcer diseasea sore in the lining of the esophagus or stomach + +Additional diagnostic tests may include a stool test, ultrasound, and flexible sigmoidoscopy or colonoscopy. + +Stool tests. A stool test is the analysis of a sample of stool. The health care provider will give the childs caretaker a container for catching and storing the childs stool. The sample is returned to the health care provider or a commercial facility and sent to a lab for analysis. The health care provider may also do a rectal exam, sometimes during the physical exam, to check for blood in the stool. Stool tests can show the presence of parasites or blood. + +Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show problems in the GI tract causing pain or other symptoms. + +Flexible sigmoidoscopy or colonoscopy. The tests are similar, but a colonoscopy is used to view the rectum and entire colon, while a flexible sigmoidoscopy is used to view just the rectum and lower colon. These tests are performed at a hospital or outpatient center by a gastroenterologista doctor who specializes in digestive diseases. For both tests, a health care provider will give written bowel prep instructions to follow at home. The child may be asked to follow a clear liquid diet for 1 to 3 days before either test. The night before the test, the child may need to take a laxative. One or more enemas may also be required the night before and about 2 hours before the test. + +In most cases, light anesthesia, and possibly pain medication, helps the child relax. For either test, the child will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The test can show signs of problems in the lower GI tract. + +The gastroenterologist may also perform a biopsy, a procedure that involves taking a piece of intestinal lining for examination with a microscope. The child will not feel the biopsy. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. + +Cramping or bloating may occur during the first hour after the test. Full recovery is expected by the next day.",NIDDK,Irritable Bowel Syndrome in Children +What are the treatments for Irritable Bowel Syndrome in Children ?,"Though there is no cure for IBS, the symptoms can be treated with a combination of the following: + +- changes in eating, diet, and nutrition - medications - probiotics - therapies for mental health problems",NIDDK,Irritable Bowel Syndrome in Children +What to do for Irritable Bowel Syndrome in Children ?,"Large meals can cause cramping and diarrhea, so eating smaller meals more often, or eating smaller portions, may help IBS symptoms. Eating meals that are low in fat and high in carbohydrates, such as pasta, rice, whole-grain breads and cereals, fruits, and vegetables may help. + +Certain foods and drinks may cause IBS symptoms in some children, such as + +- foods high in fat - milk products - drinks with caffeine - drinks with large amounts of artificial sweeteners, which are substances used in place of sugar - foods that may cause gas, such as beans and cabbage + +Children with IBS may want to limit or avoid these foods. Keeping a food diary is a good way to track which foods cause symptoms so they can be excluded from or reduced in the diet. + +Dietary fiber may lessen constipation in children with IBS, but it may not help with lowering pain. Fiber helps keep stool soft so it moves smoothly through the colon. The Academy of Nutrition and Dietetics recommends children consume age plus 5 grams of fiber daily. A 7-year-old child, for example, should get 7 plus 5, or 12 grams, of fiber a day.3 Fiber may cause gas and trigger symptoms in some children with IBS. Increasing fiber intake by 2 to 3 grams per day may help reduce the risk of increased gas and bloating. + +Medications + +The health care provider will select medications based on the childs symptoms. Caregivers should not give children any medications unless told to do so by a health care provider. + +- Fiber supplements. Fiber supplements may be recommended to relieve constipation when increasing dietary fiber is ineffective. - Laxatives. Constipation can be treated with laxative medications. Laxatives work in different ways, and a health care provider can provide information about which type is best. Caregivers should not give children laxatives unless told to do so by a health care provider. More information about different types of laxatives is provided in the NIDDK health topic, Constipation. - Antidiarrheals. Loperamide has been found to reduce diarrhea in children with IBS, though it does not reduce pain, bloating, or other symptoms. Loperamide reduces stool frequency and improves stool consistency by slowing the movement of stool through the colon. Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given if told to do so by a health care provider. - Antispasmodics. Antispasmodics, such as hyoscine, cimetropium, and pinaverium, help to control colon muscle spasms and reduce abdominal pain. - Antidepressants. Tricyclic antidepressants and selective serotonin reuptake inhibitors in low doses can help relieve IBS symptoms including abdominal pain. These medications are thought to reduce the perception of pain, improve mood and sleep patterns, and adjust the activity of the GI tract. + +Probiotics + +Probiotics are live microorganisms, usually bacteria, that are similar to microorganisms normally found in the GI tract. Studies have found that probiotics, specifically Bifidobacteria and certain probiotic combinations, improve symptoms of IBS when taken in large enough amounts. But more research is needed. Probiotics can be found in dietary supplements, such as capsules, tablets, and powders, and in some foods, such as yogurt. A health care provider can give information about the right kind and right amount of probiotics to take to improve IBS symptoms. More information about probiotics can be found in the National Center for Complementary and Alternative Medicine fact sheet An Introduction to Probiotics. + +Therapies for Mental Health Problems + +The following therapies can help improve IBS symptoms due to mental health problems: + +- Talk therapy. Talking with a therapist may reduce stress and improve IBS symptoms. Two types of talk therapy used to treat IBS are cognitive behavioral therapy and psychodynamic, or interpersonal, therapy. Cognitive behavioral therapy focuses on the childs thoughts and actions. Psychodynamic therapy focuses on how emotions affect IBS symptoms. This type of therapy often involves relaxation and stress management techniques. - Hypnotherapy. In hypnotherapy, the therapist uses hypnosis to help the child relax into a trancelike state. This type of therapy may help the child relax the muscles in the colon.",NIDDK,Irritable Bowel Syndrome in Children +What to do for Irritable Bowel Syndrome in Children ?,"- Irritable bowel syndrome (IBS) is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. - IBS is not a disease; it is a group of symptoms that occur together. - The most common symptoms of IBS are abdominal pain or discomfort, often reported as cramping, along with diarrhea, constipation, or both. - The causes of IBS are not well understood. The possible causes of IBS in children include brain-gut signal problems, GI motor problems, hypersensitivity, mental health problems, bacterial gastroenteritis, small intestinal bacterial overgrowth, and genetics. - To diagnose IBS, a health care provider will conduct a physical exam and take a complete medical history. The medical history will include questions about the childs symptoms, family members with GI disorders, recent infections, medications, and stressful events related to the onset of symptoms. IBS is diagnosed when the physical exam does not show any cause for the childs symptoms and the child meets all of the following criteria: - has had symptoms at least once per week for at least 2 months - is growing as expected - is not showing any signs that suggest another cause for the symptoms - Though there is no cure for IBS, the symptoms can be treated with a combination of the following: - changes in eating, diet, and nutrition - medications - probiotics - therapies for mental health problems",NIDDK,Irritable Bowel Syndrome in Children +What is (are) Cirrhosis ?,"Cirrhosis is a condition in which the liver slowly deteriorates and is unable to function normally due to chronic, or long lasting, injury. Scar tissue replaces healthy liver tissue and partially blocks the flow of blood through the liver. + +The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many functions, including + +- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed - making new proteins, such as clotting factors and immune factors - producing bile, which helps the body absorb fats, cholesterol, and fat-soluble vitamins - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications + +A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete, and the liver creates scar tissue. Scarring of the liver, also called fibrosis, may lead to cirrhosis. + +The buildup of scar tissue that causes cirrhosis is usually a slow and gradual process. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse and scar tissue replaces more healthy tissue, the liver will begin to fail. Chronic liver failure, which is also called end-stage liver disease, progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or effectively replace damaged cells. + +Cirrhosis is the 12th leading cause of death in the United States, accounting for nearly 32,000 deaths each year. More men die of cirrhosis than women.1",NIDDK,Cirrhosis +What causes Cirrhosis ?,"Cirrhosis has various causes. Many people with cirrhosis have more than one cause of liver damage. + +The list below shows common causes of cirrhosis in the United States.2 While chronic hepatitis C and alcohol-related liver disease are the most common causes of cirrhosis, the incidence of cirrhosis caused by nonalcoholic fatty liver disease is rising due to increasing rates of obesity. + +Most Common Causes of Cirrhosis + +Chronic hepatitis C. Hepatitis C is due to a viral infection that causes inflammation, or swelling, and damage to the liver. The hepatitis C virus spreads through contact with infected blood, such as from a needlestick accident, injection drug use, or receiving a blood transfusion before 1992. Less commonly, hepatitis C can be spread by sexual contact with an infected person or at the time of childbirth from an infected mother to her newborn. + +Hepatitis C often becomes chronic, with long-term persistence of the viral infection. Chronic hepatitis C causes damage to the liver that, over years or decades, can lead to cirrhosis. Advanced therapies for chronic hepatitis C now exist, and health care providers should treat people with chronic hepatitis C before they develop severe fibrosis or cirrhosis. Unfortunately, many people first realize they have chronic hepatitis C when they develop symptoms of cirrhosis. More information is provided in the NIDDK health topic, What I need to know about Hepatitis C. + +Alcohol-related liver disease. Alcoholism is the second most common cause of cirrhosis in the United States. Most people who consume alcohol do not suffer damage to the liver. However, heavy alcohol use over several years makes a person more likely to develop alcohol-related liver disease. The amount of alcohol it takes to damage the liver varies from person to person. Research suggests that drinking two or fewer drinks a day for women and three or fewer drinks a day for men may not injure the liver.3 Drinking more than these amounts leads to fat and inflammation in the liver, which over 10 to 12 years can lead to alcoholic cirrhosis.4 + +Nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH). In NAFLD, fat builds up in the liver; however, the fat buildup is not due to alcohol use. When the fat accompanies inflammation and liver cell damage, the condition is called nonalcoholic steatohepatitis, or NASH, with steato meaning fat, and hepatitis meaning inflammation of the liver. The inflammation and damage can cause fibrosis, which eventually can lead to cirrhosis. + +Extra fat in the liver has many causes and is more common in people who + +- are overweight or obese. - have diabetesa condition characterized by high blood glucose, also called high blood sugar. - have high blood cholesterol and triglycerides, called hyperlipidemia. - have high blood pressure. - have metabolic syndromea group of traits and medical conditions linked to being overweight and obese that makes people more likely to develop both cardiovascular disease and type 2 diabetes. Metabolic syndrome is defined as the presence of any three of the following: large waist size, high triglycerides in the blood, abnormal levels of cholesterol in the blood, high blood pressure, and higher than normal blood glucose levels. NASH may represent the liver component of the metabolic syndrome. + +NASH now ranks as the third most common cause of cirrhosis in the United States. More information is provided in the NIDDK health topic, Nonalcoholic Steatohepatitis. + +Chronic hepatitis B. Hepatitis B, like hepatitis C, is due to a viral infection that causes inflammation and damage to the liver. Chronic infection can lead to damage and inflammation, fibrosis, and cirrhosis. The hepatitis B virus spreads through contact with infected blood, such as by needlestick accident, injection drug use, or receiving a blood transfusion before the mid-1980s. Hepatitis B also spreads through sexual contact with an infected person and from an infected mother to child during childbirth. + +In the United States, hepatitis B is somewhat uncommon, affecting less than 1 percent of the population, or fewer than one in 100 people.5 In many areas of the world, however, hepatitis B is common. In some parts of Africa and in most of Asia and the Pacific Islands, about 5 to 7 percent of the population has chronic hepatitis B. In some parts of Africa, more than 8 percent of the population has chronic hepatitis B.6 For these reasons, hepatitis B is likely the major cause of cirrhosis worldwide. However, in the United States, hepatitis B ranks well behind hepatitis C, alcohol-related liver disease, and NASH. + +Therapies for chronic hepatitis B now exist and health care providers should treat people with chronic hepatitis B before they develop severe fibrosis or cirrhosis. Unfortunately, many people first realize they have chronic hepatitis B when they develop symptoms of cirrhosis. + +Hepatitis B is also a preventable disease. Since the 1980s, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. Adults at higher risk of getting hepatitis B should also get the vaccine. More information is provided in the NIDDK health topics, What I need to know about Hepatitis B and Hepatitis B: What Asian and Pacific Islander Americans Need to Know. + +Less Common Causes of Cirrhosis + +Less common causes of cirrhosis include the following: + +Autoimmune hepatitis. In this form of hepatitis, the bodys immune system attacks liver cells and causes inflammation, damage, and eventually cirrhosis. Normally, the immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. In autoimmune diseases, the bodys immune system attacks the bodys own cells and organs. Researchers believe genetics, or inherited genes, may make some people more likely to develop autoimmune diseases. At least 70 percent of those with autoimmune hepatitis are female.7 More information is provided in the NIDDK health topic, Autoimmune Hepatitis. + +Diseases that damage, destroy, or block the bile ducts. Several diseases can damage, destroy, or block the ducts that carry bile from the liver to the small intestine, causing bile to back up in the liver and leading to cirrhosis. In adults, the most common of these diseases is primary biliary cirrhosis, a chronic disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. Primary sclerosing cholangitis is a disease that causes irritation, scarring, and narrowing of the larger bile ducts of the liver. + +In infants and children, causes of damage to or disappearance of bile ducts that can lead to cirrhosis include + +- Alagille syndrome, a collection of symptoms that indicates a genetic digestive disorder and leads to a loss of bile ducts in infancy. - biliary atresia, a life-threatening condition that affects newborns in which bile ducts are missing. The cause is unknown. Biliary atresia is the most common reason for liver transplantation in children.8 - cystic fibrosis, an inherited disease of the lungs, intestines, pancreas, and bile ducts in which the body does not produce enough fluid and mucus becomes thick and blocks off small bile ducts. This blockage of the bile ducts can lead to cirrhosis. + +Long-term blockage of the bile ducts by gallstones can cause cirrhosis. Cirrhosis may also develop if the bile ducts are mistakenly tied off or injured during surgery on the gallbladder or liver. + +More information is provided in the NIDDK health topics: + +- Primary Biliary Cirrhosis - Primary Sclerosing Cholangitis - Alagille Syndrome - Biliary Atresia - Gallstones + +Inherited diseases that affect the liver. Inherited diseases that interfere with how the liver produces, processes, and stores enzymes, proteins, metals, and other substances can cause cirrhosis. These diseases include alpha-1 antitrypsin deficiency, hemochromatosis, Wilson disease, galactosemia, and glycogen storage diseases. More information is provided in the NIDDK health topics: + +- Hemochromatosis - Wilson Disease + +Rare viral infections of the liver. Hepatitis D, or hepatitis delta, and hepatitis E are two rare viral infections of the liver. Hepatitis D infection occurs only in people who have hepatitis B. People infected with chronic hepatitis B and chronic hepatitis D are more likely to develop cirrhosis than people infected with chronic hepatitis B alone.9 + +Hepatitis E is a virus found in domestic and wild animals, particularly pigs, and can cause hepatitis in humans. People with weakened immune systems, including people who are liver or kidney transplant recipients or who have acquired immune deficiency syndrome (AIDS), can develop chronic hepatitis E. Chronic hepatitis E can cause scarring of the liver and cirrhosis. Current treatments for chronic hepatitis D and E are experimental and only partially effective. + +Other causes. Other causes of cirrhosis may include + +- reactions to medications taken over a period of time. - prolonged exposure to toxic chemicals. - parasitic infections. - chronic heart failure with liver congestion, a condition in which blood flow out of the liver is slowed. Liver congestion can also occur after surgery to correct a congenital heart problema heart problem that is present at birth. + +Trauma to the liver or other acute, or short term, causes of damage do not cause cirrhosis. Usually, years of chronic injury are required to cause cirrhosis.",NIDDK,Cirrhosis +What are the symptoms of Cirrhosis ?,"Many people with cirrhosis have no symptoms in the early stages of the disease. However, as the disease progresses, a person may experience the following symptoms: + +- fatigue, or feeling tired - weakness - itching - loss of appetite - weight loss - nausea - bloating of the abdomen from ascitesa buildup of fluid in the abdomen - edemaswelling due to a buildup of fluidin the feet, ankles, or legs - spiderlike blood vessels, called spider angiomas, on the skin - jaundice, a condition that causes the skin and whites of the eyes to turn yellow",NIDDK,Cirrhosis +What are the complications of Cirrhosis ?,"As the liver fails, complications may develop. In some people, complications may be the first signs of the disease. Complications of cirrhosis may include the following: + +Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension is a common complication of cirrhosis. This condition may lead to other complications, such as + +- fluid buildup leading to edema and ascites - enlarged blood vessels, called varices, in the esophagus, stomach, or both - an enlarged spleen, called splenomegaly - mental confusion due to a buildup of toxins that are ordinarily removed by the liver, a condition called hepatic encephalopathy + +Edema and ascites. Liver failure causes fluid buildup that results in edema and ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention. + +Varices. Portal hypertension may cause enlarged blood vessels in the esophagus, stomach, or both. These enlarged blood vessels, called esophageal or gastric varices, cause the vessel walls to become thin and blood pressure to increase, making the blood vessels more likely to burst. If they burst, serious bleeding can occur in the esophagus or upper stomach, requiring immediate medical attention. + +Splenomegaly. Portal hypertension may cause the spleen to enlarge and retain white blood cells and platelets, reducing the numbers of these cells and platelets in the blood. A low platelet count may be the first evidence that a person has developed cirrhosis. + +Hepatic encephalopathy. A failing liver cannot remove toxins from the blood, so they eventually accumulate in the brain. The buildup of toxins in the brain is called hepatic encephalopathy. This condition can decrease mental function and cause stupor and even coma. Stupor is an unconscious, sleeplike state from which a person can only be aroused briefly by a strong stimulus, such as a sharp pain. Coma is an unconscious, sleeplike state from which a person cannot be aroused. Signs of decreased mental function include + +- confusion - personality changes - memory loss - trouble concentrating - a change in sleep habits + +Metabolic bone diseases. Some people with cirrhosis develop a metabolic bone disease, which is a disorder of bone strength usually caused by abnormalities of vitamin D, bone mass, bone structure, or minerals, such as calcium and phosphorous. Osteopenia is a condition in which the bones become less dense, making them weaker. When bone loss becomes more severe, the condition is referred to as osteoporosis. People with these conditions are more likely to develop bone fractures. + +Gallstones and bile duct stones. If cirrhosis prevents bile from flowing freely to and from the gallbladder, the bile hardens into gallstones. Symptoms of gallstones include abdominal pain and recurrent bacterial cholangitisirritated or infected bile ducts. Stones may also form in and block the bile ducts, causing pain, jaundice, and bacterial cholangitis. + +Bruising and bleeding. When the liver slows the production of or stops producing the proteins needed for blood clotting, a person will bruise or bleed easily. + +Sensitivity to medications. Cirrhosis slows the livers ability to filter medications from the blood. When this slowdown occurs, medications act longer than expected and build up in the body. For example, some pain medications may have a stronger effect or produce more side effects in people with cirrhosis than in people with a healthy liver. + +Insulin resistance and type 2 diabetes. Cirrhosis causes resistance to insulin. The pancreas tries to keep up with the demand for insulin by producing more; however, extra glucose builds up in the bloodstream, causing type 2 diabetes. + +Liver cancer. Liver cancer is common in people with cirrhosis. Liver cancer has a high mortality rate. Current treatments are limited and only fully successful if a health care provider detects the cancer early, before the tumor is too large. For this reason, health care providers should check people with cirrhosis for signs of liver cancer every 6 to 12 months. Health care providers use blood tests, ultrasound, or both to check for signs of liver cancer. + +Other complications. Cirrhosis can cause immune system dysfunction, leading to an increased chance of infection. Cirrhosis can also cause kidney and lung failure, known as hepatorenal and hepatopulmonary syndromes.",NIDDK,Cirrhosis +How to diagnose Cirrhosis ?,"A health care provider usually diagnoses cirrhosis based on the presence of conditions that increase its likelihood, such as heavy alcohol use or obesity, and symptoms. A health care provider may test for cirrhosis based on the presence of these conditions alone because many people do not have symptoms in the early stages of the disease. A health care provider may confirm the diagnosis with + +- a medical and family history - a physical exam - a blood test - imaging tests - a liver biopsy + +Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose cirrhosis. He or she will ask the patient to provide a medical and family history. + +Physical exam. A physical exam may help diagnose cirrhosis. During a physical exam, a health care provider usually + +- examines a patients body - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patients body + +The health care provider will perform a physical exam to look for signs of the disease. For example, the liver may feel hard or ascites may cause the abdomen to enlarge. + +Blood test. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show abnormal liver enzyme levels or abnormal numbers of blood cells or platelets. + +Blood tests can help find the cause in people with diagnosed cirrhosis. For example, a health care provider may use blood tests to diagnose hepatitis B and C. + +Health care providers use three blood tests to measure the severity of cirrhosis: + +- bilirubin, which tests the amount of bile pigment in the blood - creatinine, which tests kidney function - international normalized ratio, which tests the bloods ability to clot + +The results of these blood tests are used to calculate the Model for End-stage Liver Disease (MELD) score. Experts developed the MELD score to predict the 90-day survival rate of people with end-stage liver disease. MELD scores usually range between 6 and 40, with a score of 6 indicating the best likelihood of 90-day survival. The MELD score is used to determine whether a person is eligible for liver transplantation. + +Imaging tests. Imaging tests can show signs of advanced cirrhosis, such as irregularities in the liver surface, gastric varices, and splenomegaly. These tests can also detect signs of complications, such as ascites and liver cancer. + +- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. A patient does not need anesthesia. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnelshaped device where the technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. A patient does not need anesthesia. - Magnetic resonance imaging (MRI) machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. A patient does not need anesthesia, though a health care provider may use light sedation for patients with a fear of confined spaces. An MRI may include the injection of contrast medium. With most MRI machines, the patient lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines allow the patient to lie in a more open space. - Elastography, also called liver stiffness measurement, uses either ultrasound or MRI to measure the stiffness of the liver. Scar tissue increases the stiffness of the liver. Elastography can show how much scarring is present with some reliability. Elastography is a relatively new test. However, this test promises to be helpful in showing how severe liver scarring is and whether the scarring is getting worse over time. + +Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The health care provider may ask the patient to fast for 8 hours before the procedure. + +During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or she may use ultrasound, CT scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. + +A health care provider performs a liver biopsy at a hospital or an outpatient center. The health care provider sends the liver sample to a pathology lab, where the pathologista doctor who specializes in diagnosing diseaseslooks at the tissue with a microscope and sends a report to the patients health care provider. + +A liver biopsy can confirm the diagnosis of cirrhosis; however, a person does not always need this test. A health care provider will perform a biopsy if the result might help determine the cause or affect treatment. Sometimes a health care provider finds a cause of liver damage other than cirrhosis during biopsy.",NIDDK,Cirrhosis +What are the treatments for Cirrhosis ?,"Treatment for cirrhosis depends on the cause of the disease and whether complications are present. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. Treatment may include the following: + +Avoiding Alcohol and Illegal Substances + +People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage. + +Preventing Problems with Medications + +People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. People with cirrhosis should avoid complementary and alternative medications, such as herbs. + +Cirrhosis slows the livers ability to filter medications from the blood. When this slowdown occurs, medications act longer than expected and build up in the body. Some medications and vitamins may also affect liver function. + +Viral Hepatitis Vaccination and Screening + +All people with cirrhosis should consider vaccination against hepatitis A and B. An infection with one of these hepatitis viruses can cause cirrhosis to get worse. Vaccination can easily prevent both infections. + +People with cirrhosis should also get a screening blood test for hepatitis C. + +Treating Causes of Cirrhosis + +Health care providers can treat some causes of cirrhosis, for example, by prescribing antiviral medications for hepatitis B and C. In some instances, these medications cure the viral infection. Health care providers treat autoimmune hepatitis with corticosteroids and other medications that suppress the immune system. Health care providers can treat hemochromatosis and Wilson diseaseinherited forms of liver disease caused by the buildup of iron or copper in the liverif detected early. Health care providers usually treat liver diseases due to blockage or loss of bile ducts with ursodiol (Actigall, Urso). Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are toxic and build up in the liver when the bile ducts are blocked. + +Treating Symptoms and Complications of Cirrhosis + +Itching and abdominal pain. A health care provider may give medications to treat various symptoms of cirrhosis, such as itching and abdominal pain. + +Portal hypertension. A health care provider may prescribe a beta-blocker or nitrate to treat portal hypertension. Beta-blockers lower blood pressure by helping the heart beat slower and with less force, and nitrates relax and widen blood vessels to let more blood flow to the heart and reduce the hearts workload. + +Varices. Beta-blockers can lower the pressure in varices and reduce the likelihood of bleeding. Bleeding in the stomach or esophagus requires an immediate upper endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto look for varices. The health care provider may use the endoscope to perform a band ligation, a procedure that involves placing a special rubber band around the varices that causes the tissue to die and fall off. A gastroenterologista doctor who specializes in digestive diseasesperforms the procedure at a hospital or an outpatient center. People who have had varices in the past may need to take medication to prevent future episodes. + +Edema and ascites. Health care providers prescribe diureticsmedications that remove fluid from the bodyto treat edema and ascites. A health care provider may remove large amounts of ascitic fluid from the abdomen and check for spontaneous bacterial peritonitis. A health care provider may prescribe bacteria-fighting medications called antibiotics to prevent infection. He or she may prescribe oral antibiotics; however, severe infection with ascites requires intravenous (IV) antibiotics. + +Hepatic encephalopathy. A health care provider treats hepatic encephalopathy by cleansing the bowel with lactulose, a laxative given orally or as an enemaa liquid put into the rectum. A health care provider may also add antibiotics to the treatment. Hepatic encephalopathy may improve as other complications of cirrhosis are controlled. + +Hepatorenal syndrome. Some people with cirrhosis who develop hepatorenal syndrome must undergo regular dialysis treatment, which filters wastes and extra fluid from the body by means other than the kidneys. People may also need medications to improve blood flow through the kidneys. + +Osteoporosis. A health care provider may prescribe bisphosphonate medications to improve bone density. + +Gallstones and bile duct stones. A health care provider may use surgery to remove gallstones. He or she may use endoscopic retrograde cholangiopancreatography, which uses balloons and basketlike devices, to retrieve the bile duct stones. + +Liver cancer. A health care provider may recommend screening tests every 6 to 12 months to check for signs of liver cancer. Screening tests can find cancer before the person has symptoms of the disease. Cancer treatment is usually more effective when the health care provider finds the disease early. Health care providers use blood tests, ultrasound, or both to screen for liver cancer in people with cirrhosis. He or she may treat cancer with a combination of surgery, radiation, and chemotherapy.",NIDDK,Cirrhosis +What to do for Cirrhosis ?,"A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause + +- people to eat less because of symptoms such as loss of appetite - changes in metabolism - reduced absorption of vitamins and minerals + +Health care providers can recommend a meal plan that is well balanced and provides enough calories and protein. If ascites develops, a health care provider or dietitian may recommend a sodium-restricted diet. To improve nutrition, the health care provider may prescribe a liquid supplement. A person may take the liquid by mouth or through a nasogastric tubea tiny tube inserted through the nose and throat that reaches into the stomach. + +A person with cirrhosis should not eat raw shellfish, which can contain a bacterium that causes serious infection. Cirrhosis affects the immune system, making people with cirrhosis more likely than healthy people to develop an infection after eating shellfish that contain this bacterium. + +A health care provider may recommend calcium and vitamin D supplements to help prevent osteoporosis.",NIDDK,Cirrhosis +What to do for Cirrhosis ?,"- Cirrhosis is a condition in which the liver slowly deteriorates and is unable to function normally due to chronic, or long lasting, injury. Scar tissue replaces healthy liver tissue and partially blocks the flow of blood through the liver. - The most common causes of cirrhosis in the United States are chronic hepatitis C, alcohol-related liver disease, nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH), and chronic hepatitis B. - Many people with cirrhosis have no symptoms in the early stages of the disease. However, as the disease progresses, a person may experience the following symptoms: - fatigue, or feeling tired - weakness - itching - loss of appetite - weight loss - nausea - bloating of the abdomen from ascitesa buildup of fluid in the abdomen - edemaswelling due to a buildup of fluidin the feet, ankles, or legs - spiderlike blood vessels, called spider angiomas, on the skin - jaundice, a condition that causes the skin and whites of the eyes to turn yellow - As the liver fails, complications may develop. In some people, complications may be the first signs of the disease. - A health care provider usually diagnoses cirrhosis based on the presence of conditions that increase its likelihood, such as heavy alcohol use or obesity, and symptoms. A health care provider may confirm the diagnosis with - a medical and family history - a physical exam - a blood test - imaging tests - a liver biopsy - Treatment for cirrhosis depends on the cause of the disease and whether complications are present. - A health care provider may consider a liver transplant when cirrhosis leads to liver failure or treatment for complications is ineffective.",NIDDK,Cirrhosis +What is (are) Lactose Intolerance ?,Lactose is a sugar found in milk and milk products. The small intestinethe organ where most food digestion and nutrient absorption take placeproduces an enzyme called lactase. Lactase breaks down lactose into two simpler forms of sugar: glucose and galactose. The body then absorbs these simpler sugars into the bloodstream.,NIDDK,Lactose Intolerance +What is (are) Lactose Intolerance ?,"Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. + +Lactase deficiency and lactose malabsorption may lead to lactose intolerance: + +- Lactase deficiency. In people who have a lactase deficiency, the small intestine produces low levels of lactase and cannot digest much lactose. - Lactose malabsorption. Lactase deficiency may cause lactose malabsorption. In lactose malabsorption, undigested lactose passes to the colon. The colon, part of the large intestine, absorbs water from stool and changes it from a liquid to a solid form. In the colon, bacteria break down undigested lactose and create fluid and gas. Not all people with lactase deficiency and lactose malabsorption have digestive symptoms. + +People have lactose intolerance when lactase deficiency and lactose malabsorption cause digestive symptoms. Most people with lactose intolerance can eat or drink some amount of lactose without having digestive symptoms. Individuals vary in the amount of lactose they can tolerate. + +People sometimes confuse lactose intolerance with a milk allergy. While lactose intolerance is a digestive system disorder, a milk allergy is a reaction by the bodys immune system to one or more milk proteins. An allergic reaction to milk can be life threatening even if the person eats or drinks only a small amount of milk or milk product. A milk allergy most commonly occurs in the first year of life, while lactose intolerance occurs more often during adolescence or adulthood.1,2 + + + +Four Types of Lactase Deficiency Four types of lactase deficiency may lead to lactose intolerance: - Primary lactase deficiency, also called lactase nonpersistence, is the most common type of lactase deficiency. In people with this condition, lactase production declines over time. This decline often begins at about age 2; however, the decline may begin later. Children who have lactase deficiency may not experience symptoms of lactose intolerance until late adolescence or adulthood. Researchers have discovered that some people inherit genes from their parents that may cause a primary lactase deficiency. - Secondary lactase deficiency results from injury to the small intestine. Infection, diseases, or other problems may injure the small intestine. Treating the underlying cause usually improves the lactose tolerance. - Developmental lactase deficiency may occur in infants born prematurely. This condition usually lasts for only a short time after they are born. - Congenital lactase deficiency is an extremely rare disorder in which the small intestine produces little or no lactase enzyme from birth. Genes inherited from parents cause this disorder.",NIDDK,Lactose Intolerance +What is (are) Lactose Intolerance ?,"Four types of lactase deficiency may lead to lactose intolerance: + +- Primary lactase deficiency, also called lactase nonpersistence, is the most common type of lactase deficiency. In people with this condition, lactase production declines over time. This decline often begins at about age 2; however, the decline may begin later. Children who have lactase deficiency may not experience symptoms of lactose intolerance until late adolescence or adulthood. Researchers have discovered that some people inherit genes from their parents that may cause a primary lactase deficiency. - Secondary lactase deficiency results from injury to the small intestine. Infection, diseases, or other problems may injure the small intestine. Treating the underlying cause usually improves the lactose tolerance. - Developmental lactase deficiency may occur in infants born prematurely. This condition usually lasts for only a short time after they are born. - Congenital lactase deficiency is an extremely rare disorder in which the small intestine produces little or no lactase enzyme from birth. Genes inherited from parents cause this disorder.",NIDDK,Lactose Intolerance +What are the symptoms of Lactose Intolerance ?,"Common symptoms of lactose intolerance include + +- abdominal bloating, a feeling of fullness or swelling in the abdomen - abdominal pain - diarrhea - gas - nausea + +Symptoms occur 30 minutes to 2 hours after consuming milk or milk products. Symptoms range from mild to severe based on the amount of lactose the person ate or drank and the amount a person can tolerate.",NIDDK,Lactose Intolerance +How to diagnose Lactose Intolerance ?,"A health care provider makes a diagnosis of lactose intolerance based on + +- medical, family, and diet history, including a review of symptoms - a physical exam - medical tests + +Medical, family, and diet history. A health care provider will take a medical, family, and diet history to help diagnose lactose intolerance. During this discussion, the health care provider will review a patients symptoms. However, basing a diagnosis on symptoms alone may be misleading because digestive symptoms can occur for many reasons other than lactose intolerance. For example, other conditions such as irritable bowel syndrome, celiac disease, inflammatory bowel disease, or small bowel bacterial overgrowth can cause digestive symptoms. + +Physical exam. A physical exam may help diagnose lactose intolerance or rule out other conditions that cause digestive symptoms. During a physical exam, a health care provider usually + +- checks for abdominal bloating - uses a stethoscope to listen to sounds within the abdomen - taps on the abdomen to check for tenderness or pain + +A health care provider may recommend eliminating all milk and milk products from a persons diet for a short time to see if the symptoms resolve. Symptoms that go away when a person eliminates lactose from his or her diet may confirm the diagnosis of lactose intolerance. + +Medical tests. A health care provider may order special tests to provide more information. Health care providers commonly use two tests to measure how well a person digests lactose: + +- Hydrogen breath test. This test measures the amount of hydrogen in a persons breath. Normally, only a small amount of hydrogen is detectable in the breath when a person eats or drinks and digests lactose. However, undigested lactose produces high levels of hydrogen. For this test, the patient drinks a beverage that contains a known amount of lactose. A health care provider asks the patient to breathe into a balloon-type container that measures breath hydrogen level. In most cases, a health care provider performs this test at a hospital, on an outpatient basis. Smoking and some foods and medications may affect the accuracy of the results. A health care provider will tell the patient what foods or medications to avoid before the test. - Stool acidity test. Undigested lactose creates lactic acid and other fatty acids that a stool acidity test can detect in a stool sample. Health care providers sometimes use this test to check acidity in the stools of infants and young children. A child may also have glucose in his or her stool as a result of undigested lactose. The health care provider will give the childs parent or caretaker a container for collecting the stool specimen. The parent or caretaker returns the sample to the health care provider, who sends it to a lab for analysis.",NIDDK,Lactose Intolerance +What are the treatments for Lactose Intolerance ?,"Many people can manage the symptoms of lactose intolerance by changing their diet. Some people may only need to limit the amount of lactose they eat or drink. Others may need to avoid lactose altogether. Using lactase products can help some people manage their symptoms. + +For people with secondary lactase deficiency, treating the underlying cause improves lactose tolerance. In infants with developmental lactase deficiency, the ability to digest lactose improves as the infants mature. People with primary and congenital lactase deficiency cannot change their bodys ability to produce lactase.",NIDDK,Lactose Intolerance +What to do for Lactose Intolerance ?,"People may find it helpful to talk with a health care provider or a registered dietitian about a dietary plan. A dietary plan can help people manage the symptoms of lactose intolerance and make sure they get enough nutrients. Parents, caretakers, childcare providers, and others who serve food to children with lactose intolerance should follow the dietary plan recommended by the childs health care provider or registered dietitian. + +Milk and milk products. Gradually introducing small amounts of milk or milk products may help some people adapt to them with fewer symptoms. Often, people can better tolerate milk or milk products by having them with meals, such as having milk with cereal or having cheese with crackers. People with lactose intolerance are generally more likely to tolerate hard cheeses, such as cheddar or Swiss, than a glass of milk. A 1.5ounce serving of low-fat hard cheese has less than 1 gram of lactose, while a 1-cup serving of low-fat milk has about 11 to 13 grams of lactose.2 + +However, people with lactose intolerance are also more likely to tolerate yogurt than milk, even though yogurt and milk have similar amounts of lactose.2 + +Lactose-free and lactose-reduced milk and milk products. Lactose-free and lactose-reduced milk and milk products are available at most supermarkets and are identical nutritionally to regular milk and milk products. Manufacturers treat lactose-free milk with the lactase enzyme. This enzyme breaks down the lactose in the milk. Lactose-free milk remains fresh for about the same length of time or, if it is ultra-pasteurized, longer than regular milk. Lactose-free milk may have a slightly sweeter taste than regular milk. + +Lactase products. People can use lactase tablets and drops when they eat or drink milk products. The lactase enzyme digests the lactose in the food and therefore reduces the chances of developing digestive symptoms. People should check with a health care provider before using these products because some groups, such as young children and pregnant and breastfeeding women, may not be able to use them.",NIDDK,Lactose Intolerance +What to do for Lactose Intolerance ?,"- Lactose is a sugar found in milk and milk products. - Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. - A health care provider makes a diagnosis of lactose intolerance based on medical, family, and diet history, including a review of symptoms; a physical exam; and medical tests. - Basing a diagnosis on symptoms alone may be misleading because digestive symptoms can occur for many reasons other than lactose intolerance. - Most people with lactose intolerance can tolerate some amount of lactose in their diet and do not need to avoid milk or milk products completely. However, individuals vary in the amount of lactose they can tolerate. - Research suggests that adults and adolescents with lactose malabsorption could eat or drink at least 12 grams of lactose in one sitting without symptoms or with only minor symptoms. This amount is the amount of lactose in 1 cup of milk. - Many people can manage the symptoms of lactose intolerance by changing their diet. Some people may only need to limit the amount of lactose they eat or drink. Others may need to avoid lactose altogether. - People may find it helpful to talk with a health care provider or a registered dietitian to determine if their diet provides adequate nutrients including calcium and vitamin D. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements, with their health care provider. - Lactose is in all milk and milk products. Manufacturers also often add milk and milk products to boxed, canned, frozen, packaged, and prepared foods. People can check the ingredients on food labels to find possible sources of lactose in food products.",NIDDK,Lactose Intolerance +What is (are) Biliary Atresia ?,"Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. + +Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. Bile is a fluid made by the liver that serves two main functions: carrying toxins and waste products out of the body and helping the body digest fats and absorb the fat-soluble vitamins A, D, E, and K. + +With biliary atresia, bile becomes trapped, builds up, and damages the liver. The damage leads to scarring, loss of liver tissue, and cirrhosis. Cirrhosis is a chronic, or long lasting, liver condition caused by scar tissue and cell damage that makes it hard for the liver to remove toxins from the blood. These toxins build up in the blood and the liver slowly deteriorates and malfunctions. Without treatment, the liver eventually fails and the infant needs a liver transplant to stay alive. + +The two types of biliary atresia are fetal and perinatal. Fetal biliary atresia appears while the baby is in the womb. Perinatal biliary atresia is much more common and does not become evident until 2 to 4 weeks after birth. Some infants, particularly those with the fetal form, also have birth defects in the heart, spleen, or intestines.",NIDDK,Biliary Atresia +Who is at risk for Biliary Atresia? ?,"Biliary atresia is rare and only affects about one out of every 18,000 infants.1 The disease is more common in females, premature babies, and children of Asian or African American heritage.",NIDDK,Biliary Atresia +What are the symptoms of Biliary Atresia ?,"The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Jaundice occurs when the liver does not remove bilirubin, a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. Bilirubin is absorbed by the liver, processed, and released into bile. Blockage of the bile ducts forces bilirubin to build up in the blood. + +Other common symptoms of biliary atresia include + +- dark urine, from the high levels of bilirubin in the blood spilling over into the urine - gray or white stools, from a lack of bilirubin reaching the intestines - slow weight gain and growth",NIDDK,Biliary Atresia +What causes Biliary Atresia ?,"Biliary atresia likely has multiple causes, though none are yet proven. Biliary atresia is not an inherited disease, meaning it does not pass from parent to child. Therefore, survivors of biliary atresia are not at risk for passing the disorder to their children. + +Biliary atresia is most likely caused by an event in the womb or around the time of birth. Possible triggers of the event may include one or more of the following: + +- a viral or bacterial infection after birth, such as cytomegalovirus, reovirus, or rotavirus - an immune system problem, such as when the immune system attacks the liver or bile ducts for unknown reasons - a genetic mutation, which is a permanent change in a genes structure - a problem during liver and bile duct development in the womb - exposure to toxic substances",NIDDK,Biliary Atresia +How to diagnose Biliary Atresia ?,"No single test can definitively diagnose biliary atresia, so a series of tests is needed. All infants who still have jaundice 2 to 3 weeks after birth, or who have gray or white stools after 2 weeks of birth, should be checked for liver damage.2 + +Infants with suspected liver damage are usually referred to a + +- pediatric gastroenterologist, a doctor who specializes in childrens digestive diseases - pediatric hepatologist, a doctor who specializes in childrens liver diseases - pediatric surgeon, a doctor who specializes in operating on childrens livers and bile ducts + +The health care provider may order some or all of the following tests to diagnose biliary atresia and rule out other causes of liver problems. If biliary atresia is still suspected after testing, the next step is diagnostic surgery for confirmation. + +Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. High levels of bilirubin in the blood can indicate blocked bile ducts. + +Abdominal x rays. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x ray is performed at a hospital or outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed, but sedation may be used to keep infants still. The infant will lie on a table during the x ray. The x-ray machine is positioned over the abdominal area. Abdominal x rays are used to check for an enlarged liver and spleen. + +Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted a radiologist. Anesthesia is not needed, but sedation may be used to keep the infant still. The images can show whether the liver or bile ducts are enlarged and whether tumors or cysts are blocking the flow of bile. An ultrasound cannot be used to diagnose biliary atresia, but it does help rule out other common causes of jaundice. + +Liver scans. Liver scans are special x rays that use chemicals to create an image of the liver and bile ducts. Liver scans are performed at a hospital or outpatient facility, usually by a nuclear medicine technician. The infant will usually receive general anesthesia or be sedated before the procedure. Hepatobiliary iminodiacetic acid scanning, a type of liver scan, uses injected radioactive dye to trace the path of bile in the body. The test can show if and where bile flow is blocked. Blockage is likely to be caused by biliary atresia. + +Liver biopsy. A biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the liver. The liver tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. A liver biopsy can show whether biliary atresia is likely. A biopsy can also help rule out other liver problems, such as hepatitisan irritation of the liver that sometimes causes permanent damage. + +Diagnostic surgery. During diagnostic surgery, a pediatric surgeon makes an incision, or cut, in the abdomen to directly examine the liver and bile ducts. If the surgeon confirms that biliary atresia is the problem, a Kasai procedure will usually be performed immediately. Diagnostic surgery and the Kasai procedure are performed at a hospital or outpatient facility; the infant will be under general anesthesia during surgery.",NIDDK,Biliary Atresia +What are the treatments for Biliary Atresia ?,"Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant. + +Kasai Procedure + +The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. During a Kasai procedure, the pediatric surgeon removes the infants damaged bile ducts and brings up a loop of intestine to replace them. As a result, bile flows straight to the small intestine. + +While this operation doesnt cure biliary atresia, it can restore bile flow and correct many problems caused by biliary atresia. Without surgery, infants with biliary atresia are unlikely to live past age 2. This procedure is most effective in infants younger than 3 months old, because they usually havent yet developed permanent liver damage. Some infants with biliary atresia who undergo a successful Kasai procedure regain good health and no longer have jaundice or major liver problems. + +If the Kasai procedure is not successful, infants usually need a liver transplant within 1 to 2 years. Even after a successful surgery, most infants with biliary atresia slowly develop cirrhosis over the years and require a liver transplant by adulthood. + +Liver Transplant + +Liver transplantation is the definitive treatment for biliary atresia, and the survival rate after surgery has increased dramatically in recent years. As a result, most infants with biliary atresia now survive. Progress in transplant surgery has also increased the availability and efficient use of livers for transplantation in children, so almost all infants requiring a transplant can receive one. + +In years past, the size of the transplanted liver had to match the size of the infants liver. Thus, only livers from recently deceased small children could be transplanted into infants with biliary atresia. New methods now make it possible to transplant a portion of a deceased adults liver into an infant. This type of surgery is called a reduced-size or split-liver transplant. + +Part of a living adult donors liver can also be used for transplantation. Healthy liver tissue grows quickly; therefore, if an infant receives part of a liver from a living donor, both the donor and the infant can grow complete livers over time. + +Infants with fetal biliary atresia are more likely to need a liver transplantand usually soonerthan infants with the more common perinatal form. The extent of damage can also influence how soon an infant will need a liver transplant.",NIDDK,Biliary Atresia +What are the complications of Biliary Atresia ?,"After the Kasai procedure, some infants continue to have liver problems and, even with the return of bile flow, some infants develop cirrhosis. Possible complications after the Kasai procedure include ascites, bacterial cholangitis, portal hypertension, and pruritus. + +Ascites. Problems with liver function can cause fluid to build up in the abdomen, called ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention. Ascites usually only lasts a few weeks. If ascites lasts more than 6 weeks, cirrhosis is likely present and the infant will probably need a liver transplant. + +Bacterial cholangitis. Bacterial cholangitis is an infection of the bile ducts that is treated with bacteria-fighting medications called antibiotics. + +Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks and slows the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension can cause gastrointestinal bleeding that may require surgery and an eventual liver transplant. + +Pruritus. Pruritus is caused by bile buildup in the blood and irritation of nerve endings in the skin. Prescription medication may be recommended for pruritus, including resins that bind bile in the intestines and antihistamines that decrease the skins sensation of itching.",NIDDK,Biliary Atresia +What to do for Biliary Atresia ?,"Infants with biliary atresia often have nutritional deficiencies and require special diets as they grow up. They may need a higher calorie diet, because biliary atresia leads to a faster metabolism. The disease also prevents them from digesting fats and can lead to protein and vitamin deficiencies. Vitamin supplements may be recommended, along with adding medium-chain triglyceride oil to foods, liquids, and infant formula. The oil adds calories and is easier to digest without bile than other types of fats. If an infant or child is too sick to eat, a feeding tube may be recommended to provide high-calorie liquid meals. + +After a liver transplant, most infants and children can go back to their usual diet. Vitamin supplements may still be needed because the medications used to keep the body from rejecting the new liver can affect calcium and magnesium levels.",NIDDK,Biliary Atresia +What to do for Biliary Atresia ?,"- Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. - The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Other symptoms include dark urine, gray or white stools, and slow weight gain and growth. - Biliary atresia likely has multiple causes, though none is yet proven. - No single test can definitively diagnose biliary atresia, so a series of tests is needed, including a blood test, abdominal x ray, ultrasound, liver scans, liver biopsy, and diagnostic surgery. - Initial treatment for biliary atresia is usually the Kasai procedure, an operation where the bile ducts are removed and a loop of intestine is brought up to replace them. - The definitive treatment for biliary atresia is liver transplant. - After a liver transplant, a regimen of medications is used to prevent the immune system from rejecting the new liver. Health care providers may also prescribe blood pressure medications and antibiotics, along with special diets and vitamin supplements.",NIDDK,Biliary Atresia +What is (are) Hyperthyroidism ?,"Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. Hyperthyroidism is sometimes called thyrotoxicosis, the technical term for too much thyroid hormone in the blood. Thyroid hormones circulate throughout the body in the bloodstream and act on virtually every tissue and cell in the body. Hyperthyroidism causes many of the bodys functions to speed up. About 1 percent of the U.S. population has hyperthyroidism.1",NIDDK,Hyperthyroidism +What is (are) Hyperthyroidism ?,"The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and release hormones into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. + +The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. + +Thyroid hormone production is regulated by thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by decreasing TSH production.",NIDDK,Hyperthyroidism +What causes Hyperthyroidism ?,"Hyperthyroidism has several causes, including + +- Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid + +Rarely, hyperthyroidism is caused by a pituitary adenoma, which is a noncancerous tumor of the pituitary gland. In this case, hyperthyroidism is due to too much TSH. + +Graves Disease + +Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Graves disease is an autoimmune disorder. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. + +With Graves disease, the immune system makes an antibody called thyroid stimulating immunoglobulin (TSI) that attaches to thyroid cells. TSI mimics the action of TSH and stimulates the thyroid to make too much thyroid hormone. + +More information is provided in the NIDDK health topic, Graves' disease. + +Thyroid Nodules + +Thyroid nodules, also called adenomas, are lumps in the thyroid. Thyroid nodules are common and usually noncancerous. About 3 to 7 percent of the U.S. population has them.2 However, nodules may become overactive and produce too much hormone. + +A single overactive nodule is called a toxic adenoma. Multiple overactive nodules are called toxic multinodular goiter. Often found in older adults, toxic multinodular goiter can produce a large amount of excess thyroid hormone. + +Thyroiditis + +Thyroiditis is an inflammation of the thyroid that causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidism that lasts for 1 or 2 months. Most people then develop hypothyroidismwhen thyroid hormone levels are too lowbefore the thyroid is completely healed. + +Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism: + +- Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism. + +Consuming Too Much Iodine + +The thyroid uses iodine to make thyroid hormone, so the amount of iodine consumed influences the amount of thyroid hormone the thyroid makes. In some people, consuming large amounts of iodine may cause the thyroid to make excess thyroid hormone. + +Sometimes significant amounts of iodine are contained in medicationssuch as amiodarone, which is used to treat heart problemsor in supplements containing seaweed. Some cough syrups also contain large amounts of iodine. See Eating, Diet, and Nutrition for more information on iodine. + +Overmedicating with Synthetic Thyroid Hormone + +Some people who take synthetic thyroid hormone for hypothyroidism may take too much. People who take synthetic thyroid hormone should see their health care provider at least once a year to have their thyroid hormone levels checked and follow the health care providers instructions about the dosage. + +Some other medications may also interact with synthetic thyroid hormone to raise hormone levels in the blood. People who take synthetic thyroid hormone should ask their health care provider about interactions when starting new medications.",NIDDK,Hyperthyroidism +What are the symptoms of Hyperthyroidism ?,"Hyperthyroidism has many symptoms that can vary from person to person. Some common symptoms of hyperthyroidism are + +- nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea - weight loss - mood swings - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing",NIDDK,Hyperthyroidism +How to diagnose Hyperthyroidism ?,"Many symptoms of hyperthyroidism are the same as those of other diseases, so hyperthyroidism usually cannot be diagnosed based on symptoms alone. With suspected hyperthyroidism, health care providers take a medical history and perform a thorough physical exam. Health care providers may then use several blood tests, such as the following, to confirm a diagnosis of hyperthyroidism and find its cause: + +TSH test. The ultrasensitive TSH test is usually the first test a health care provider performs. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. The TSH test is especially useful in detecting mild hyperthyroidism. Generally, a TSH reading below normal means a person has hyperthyroidism and a reading above normal means a person has hypothyroidism. + +Health care providers may conduct additional tests to help confirm the diagnosis or determine the cause of hyperthyroidism. + +T3 and T4 test. This test shows the levels of T3 and T4 in the blood. With hyperthyroidism, the levels of one or both of these hormones in the blood are higher than normal. + +Thyroid-stimulating immunoglobulin (TSI) test. This test, also called a thyroidstimulating antibody test, measures the level of TSI in the blood. Most people with Graves disease have this antibody, but people whose hyperthyroidism is caused by other conditions do not. + +Radioactive iodine uptake test. The radioactive iodine uptake test measures the amount of iodine the thyroid collects from the bloodstream. Measuring the amount of iodine in a persons thyroid helps the health care provider determine what is causing a persons hyperthyroidism. For example, low levels of iodine uptake might be a sign of thyroiditis, whereas high levels could indicate Graves disease. + +Thyroid scan. A thyroid scan shows how and where iodine is distributed in the thyroid. The images of nodules and other possible irregularities help the health care provider diagnose the cause of a persons hyperthyroidism. + +More information is provided in the NIDDK health topic, Thyroid Tests.",NIDDK,Hyperthyroidism +What are the treatments for Hyperthyroidism ?,"Health care providers treat hyperthyroidism with medications, radioiodine therapy, or thyroid surgery. The aim of treatment is to bring thyroid hormone levels to a normal state, thus preventing long-term complications, and to relieve uncomfortable symptoms. No single treatment works for everyone. + +Treatment depends on the cause of hyperthyroidism and how severe it is. When choosing a treatment, health care providers consider a patients age, possible allergies to or side effects of the medications, other conditions such as pregnancy or heart disease, and the availability of an experienced thyroid surgeon. + +Finding the right specialist for treatment is an important first step. Some professional societies, listed under For More Information, and endocrinology departments in local teaching hospitals can provide the names of local specialists. + +Medications + +Beta blockers. Health care providers may prescribe a medication called a beta blocker to reduce symptoms until other treatments take effect. Beta blockers act quickly to relieve many of the symptoms of hyperthyroidism, such as tremors, rapid heartbeat, and nervousness, but do not stop thyroid hormone production. Most people feel better within hours of taking these medications. + +Antithyroid medications. Antithyroid therapy is the easiest way to treat hyperthyroidism. Antithyroid medications interfere with thyroid hormone production but dont usually have permanent results. Antithyroid medications are not used to treat thyroiditis. + +Once treatment with antithyroid medications begins, thyroid hormone levels may not move into the normal range for several weeks or months. The average treatment time is about 1 to 2 years, but treatment can continue for many years. + +Antithyroid medications can cause side effects in some people, including + +- allergic reactions such as rashes and itching - a decrease in the number of white blood cells in the body, which can lower resistance to infection - liver failure, in rare cases + +Stop your antithyroid medication and call your health care provider right away if you develop any of the following while taking antithyroid medications: - fatigue - weakness - vague abdominal pain - loss of appetite - skin rash or itching - easy bruising - yellowing of the skin or whites of the eyes, called jaundice - persistent sore throat - fever + +In the United States, health care providers prescribe the antithyroid medication methimazole (Tapazole, Northyx) for most types of hyperthyroidism. + +Antithyroid medications and pregnancy. Because pregnant and breastfeeding women cannot receive radioiodine therapy, they are usually treated with an antithyroid medication instead. However, experts agree that women in their first trimester of pregnancy should not take methimazole due to the rare occurrence of damage to the fetus. Another antithyroid medication, propylthiouracil (PTU), is available for women in this stage of pregnancy or for women who are allergic to or intolerant of methimazole and have no other treatment options. + +Health care providers may prescribe PTU for the first trimester of pregnancy and switch to methimazole for the second and third trimesters. Some women are able to stop taking antithyroid medications in the last 4 to 8 weeks of pregnancy due to the remission of hyperthyroidism that occurs during pregnancy. However these women should continue to be monitored for recurrence of thyroid problems following delivery. + +Studies have shown that mothers taking antithyroid medications may safely breastfeed. However, they should take only moderate doses, less than 1020 milligrams daily, of the antithyroid medication methimazole. Doses should be divided and taken after feedings, and the infants should be monitored for side effects.4 + +Women requiring higher doses of the antithyroid medication to control hyperthyroidism should not breastfeed. + +Radioiodine Therapy + +Radioactive iodine-131 is a common and effective treatment for hyperthyroidism. In radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. The radioactive iodine gradually destroys the cells that make up the thyroid gland but does not affect other body tissues. + +More than one round of radioiodine therapy may be needed to bring thyroid hormone production into the normal range. In the meantime, treatment with beta blockers can control symptoms. + +Almost everyone who receives radioactive iodine treatment eventually develops hypothyroidism. But health care providers consider this an acceptable outcome because hypothyroidism is easier to treat and has fewer long-term complications than hyperthyroidism. People who develop hypothyroidism must take synthetic thyroid hormone. + +Radioiodine and pregnancy. Although iodine-131 is not known to cause birth defects or infertility, radioiodine therapy is not used in pregnant women or women who are breastfeeding. Radioactive iodine can be harmful to the fetus thyroid and can be passed from mother to child in breast milk. Experts recommend that women wait a year after treatment before becoming pregnant. + +Thyroid Surgery + +The least-used treatment is surgery to remove part or most of the thyroid gland. Sometimes surgery may be used to treat + +- pregnant women who cannot tolerate antithyroid medications - people with large goiters - people who have cancerous thyroid nodules, though hyperthyroidism does not cause cancer + +Before surgery, the health care provider may prescribe antithyroid medications to temporarily bring a patients thyroid hormone levels into the normal range. This presurgical treatment prevents a condition called thyroid storma sudden, severe worsening of symptomsthat can occur when hyperthyroid patients have general anesthesia. + +When part of the thyroid is removedas a treatment for toxic nodules, for examplethyroid hormone levels may return to normal. But some surgical patients may still develop hypothyroidism and need to take synthetic thyroxine, a medication that is identical to the hormone, T4, made by the thyroid. If the entire thyroid is removed, lifelong thyroid hormone medication is necessary. After surgery, health care providers will continue to monitor patients thyroid hormone levels. + +Although uncommon, certain problems can occur in thyroid surgery. The parathyroid glands can be damaged because they are located very close to the thyroid. These glands help control calcium and phosphorus levels in the body. Damage to the laryngeal nerve, also located close to the thyroid, can lead to voice changes or breathing problems. But when surgery is performed by an experienced surgeon, less than 1 percent of patients have permanent complications.5 People who need help finding a surgeon can contact one of the organizations listed under For More Information.",NIDDK,Hyperthyroidism +What to do for Hyperthyroidism ?,"Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library at www.nutrition.gov. + +Dietary Supplements + +Iodine is an essential mineral for the thyroid. However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hyperthyroidism. More information about iodine is provided by the National Library of Medicine in the fact sheet, Iodine in diet, available at www.nlm.nih.gov/medlineplus. + +Women need more iodine when they are pregnantabout 250 micrograms a daybecause the baby gets iodine from the mothers diet. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.6 Choosing iodized saltsalt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met. + +To help ensure coordinated and safe care, people should discuss their use of dietary supplements, such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.",NIDDK,Hyperthyroidism +What to do for Hyperthyroidism ?,"- Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. - Hyperthyroidism is most often caused by Graves disease, an autoimmune disorder. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and overmedicating with synthetic thyroid hormone. - Some symptoms of hyperthyroidism are nervousness or irritability, fatigue or muscle weakness, heat intolerance, trouble sleeping, hand tremors, rapid and irregular heartbeat, frequent bowel movements or diarrhea, weight loss, mood swings, and goiter. - Hyperthyroidism is much more common in women than men. - Hyperthyroidism is also more common in people older than age 60 and is often caused by thyroid nodules. Hyperthyroidism in this age group is sometimes misdiagnosed as depression or dementia. For people older than age 60, subclinical hyperthyroidism increases their chance of developing atrial fibrillation. - Women with hyperthyroidism should discuss their condition with their health care provider before becoming pregnant. - Hyperthyroidism is treated with medications, radioiodine therapy, or thyroid surgery. No single treatment works for everyone.",NIDDK,Hyperthyroidism +What is (are) Gastritis ?,"Gastritis is a condition in which the stomachliningknown as the mucosais inflamed, or swollen. The stomach lining contains glands that produce stomach acid and an enzyme called pepsin. The stomach acid breaks down food and pepsin digests protein. A thick layer of mucus coats the stomach lining and helps prevent the acidic digestive juice from dissolving the stomach tissue. When the stomach lining is inflamed, it produces less acid and fewer enzymes. However, the stomach lining also produces less mucus and other substances that normally protect the stomach lining from acidic digestive juice. + +Gastritis may be acute or chronic: + +- Acute gastritis starts suddenly and lasts for a short time. - Chronic gastritis is long lasting. If chronic gastritis is not treated, it may last for years or even a lifetime. + +Gastritis can be erosive or nonerosive: + +- Erosive gastritis can cause the stomach lining to wear away, causing erosionsshallow breaks in the stomach liningor ulcersdeep sores in the stomach lining. - Nonerosive gastritis causes inflammation in the stomach lining; however, erosions or ulcers do not accompany nonerosive gastritis. + +A health care provider may refer a person with gastritis to a gastroenterologista doctor who specializes in digestive diseases.",NIDDK,Gastritis +What causes Gastritis ?,"Common causes of gastritis include + +- Helicobacter pylori (H. pylori) infection - damage to the stomach lining, which leads to reactive gastritis - an autoimmune response + +H. pylori infection. H. pylori is a type of bacteriaorganisms that may cause an infection. H. pylori infection + +- causes most cases of gastritis - typically causes nonerosive gastritis - may cause acute or chronic gastritis + +H. pylori infection is common, particularly in developing countries, and the infection often begins in childhood. Many people who are infected with H. pylori never have any symptoms. Adults are more likely to show symptoms when symptoms do occur. + +Researchers are not sure how the H. pylori infection spreads, although they think contaminated food, water, or eating utensils may transmit the bacteria. Some infected people have H. pylori in their saliva, which suggests that infection can spread through direct contact with saliva or other body fluids. + +More information about Peptic Ulcer Disease and H. pylori is provided in the NIDDK health topic, Peptic Ulcer Disease. + +Damage to the stomach lining, which leads to reactive gastritis. Some people who have damage to the stomach lining can develop reactive gastritis. + +Reactive gastritis + +- may be acute or chronic - may cause erosions - may cause little or no inflammation + +Reactive gastritis may also be called reactive gastropathy when it causes little or no inflammation. + +The causes of reactive gastritis may include + +- nonsteroidal anti-inflammatory drugs (NSAIDs), a type of over-the-counter medication. Aspirin and ibuprofen are common types of NSAIDs. - drinking alcohol. - using cocaine. - exposure to radiation or having radiation treatments. - reflux of bile from the small intestine into the stomach. Bile reflux may occur in people who have had part of their stomach removed. - a reaction to stress caused by traumatic injuries, critical illness, severe burns, and major surgery. This type of reactive gastritis is called stress gastritis. + +An autoimmune response. In autoimmune gastritis, the immune system attacks healthy cells in the stomach lining. The immune system normally protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Autoimmune gastritis is chronic and typically nonerosive. + +Less common causes of gastritis may include + +- Crohn's disease, which causes inflammation and irritation of any part of the gastrointestinal (GI) tract. - sarcoidosis, a disease that causes inflammation that will not go away. The chronic inflammation causes tiny clumps of abnormal tissue to form in various organs in the body. The disease typically starts in the lungs, skin, and lymph nodes. - allergies to food, such as cow's milk and soy, especially in children. - infections with viruses, parasites, fungi, and bacteria other than H. pylori, typically in people with weakened immune systems.",NIDDK,Gastritis +What are the symptoms of Gastritis ?,"Some people who have gastritis have pain or discomfort in the upper part of the abdomenthe area between the chest and hips. However, many people with gastritis do not have any signs and symptoms. The relationship between gastritis and a person's symptoms is not clear. The term gastritis is sometimes mistakenly used to describe any symptoms of pain or discomfort in the upper abdomen. + +When symptoms are present, they may include + +- upper abdominal discomfort or pain - nausea - vomiting + + + +Seek Help for Symptoms of Bleeding in the Stomach Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include - shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract.",NIDDK,Gastritis +What are the symptoms of Gastritis ?,"Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include + +- shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness + +A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. + +More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract.",NIDDK,Gastritis +What are the complications of Gastritis ?,"The complications of chronic gastritis may include + +- peptic ulcers. Peptic ulcers are sores involving the lining of the stomach or duodenum, the first part of the small intestine. NSAID use and H. pylori gastritis increase the chance of developing peptic ulcers. - atrophic gastritis. Atrophic gastritis happens when chronic inflammation of the stomach lining causes the loss of the stomach lining and glands. Chronic gastritis can progress to atrophic gastritis. - anemia. Erosive gastritis can cause chronic bleeding in the stomach, and the blood loss can lead to anemia. Anemia is a condition in which red blood cells are fewer or smaller than normal, which prevents the body's cells from getting enough oxygen. Red blood cells contain hemoglobin, an iron-rich protein that gives blood its red color and enables the red blood cells to transport oxygen from the lungs to the tissues of the body. Research suggests that H. pylori gastritis and autoimmune atrophic gastritis can interfere with the body's ability to absorb iron from food, which may also cause anemia. Read more about anemia at www.nhlbi.nih.gov. - vitamin B12 deficiency and pernicious anemia. People with autoimmune atrophic gastritis do not produce enough intrinsic factor. Intrinsic factor is a protein made in the stomach and helps the intestines absorb vitamin B12. The body needs vitamin B12 to make red blood cells and nerve cells. Poor absorption of vitamin B12 may lead to a type of anemia called pernicious anemia. Read more about pernicious anemia at www.nhlbi.nih.gov. - growths in the stomach lining. Chronic gastritis increases the chance of developing benign, or noncancerous, and malignant, or cancerous, growths in the stomach lining. Chronic H. pylori gastritis increases the chance of developing a type of cancer called gastric mucosa-associated lymphoid tissue (MALT) lymphoma. Read more about MALT lymphoma and gastric cancer at www.cancer.gov. + +In most cases, acute gastritis does not lead to complications. In rare cases, acute stress gastritis can cause severe bleeding that can be life threatening.",NIDDK,Gastritis +How to diagnose Gastritis ?,"A health care provider diagnoses gastritis based on the following: + +- medical history - physical exam - upper GI endoscopy - other tests + +Medical History + +Taking a medical history may help the health care provider diagnose gastritis. He or she will ask the patient to provide a medical history. The history may include questions about chronic symptoms and travel to developing countries. + +Physical Exam + +A physical exam may help diagnose gastritis. During a physical exam, a health care provider usually + +- examines a patient's body - uses a stethoscope to listen to sounds in the abdomen - taps on the abdomen checking for tenderness or pain + +Upper Gastrointestinal Endoscopy + +Upper GI endoscopy is a procedure that uses an endoscopea small, flexible camera with a lightto see the upper GI tract. A health care provider performs the test at a hospital or an outpatient center. The health care provider carefully feeds the endoscope down the esophagus and into the stomach and duodenum. The small camera built into the endoscope transmits a video image to a monitor, allowing close examination of the GI lining. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patient's throat before inserting the endoscope. A health care provider will place an intravenous (IV) needle in a vein in the arm to administer sedation. Sedatives help patients stay relaxed and comfortable. The test may show signs of inflammation or erosions in the stomach lining. + +The health care provider can use tiny tools passed through the endoscope to perform biopsies. A biopsy is a procedure that involves taking a piece of tissue for examination with a microscope by a pathologista doctor who specializes in examining tissues to diagnose diseases. A health care provider may use the biopsy to diagnose gastritis, find the cause of gastritis, and find out if chronic gastritis has progressed to atrophic gastritis. More information is provided in the NIDDK health topic, Upper GI Endoscopy. + +Other Tests + +A health care provider may have a patient complete other tests to identify the cause of gastritis or any complications. These tests may include the following: + +- Upper GI series. Upper GI series is an x-ray exam that provides a look at the shape of the upper GI tract. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. This test does not require anesthesia. A patient should not eat or drink before the procedure, as directed by the health care provider. Patients should check with their health care provider about what to do to prepare for an upper GI series. During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and health care provider can see these organs' shapes more clearly on x-rays. A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract may cause white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. More information is provided in the NIDDK health topic, Upper GI Series. - Blood tests. A health care provider may use blood tests to check for anemia or H. pylori. A health care provider draws a blood sample during an office visit or at a commercial facility and sends the sample to a lab for analysis. - Stool test. A health care provider may use a stool test to check for blood in the stool, another sign of bleeding in the stomach, and for H. pylori infection. A stool test is an analysis of a sample of stool. The health care provider will give the patient a container for catching and storing the stool. The patient returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. - Urea breath test. A health care provider may use a urea breath test to check for H. pylori infection. The patient swallows a capsule, liquid, or pudding that contains ureaa waste product the body produces as it breaks down protein. The urea is labeled with a special carbon atom. If H. pylori are present, the bacteria will convert the urea into carbon dioxide. After a few minutes, the patient breathes into a container, exhaling carbon dioxide. A nurse or technician will perform this test at a health care provider's office or a commercial facility and send the samples to a lab. If the test detects the labeled carbon atoms in the exhaled breath, the health care provider will confirm an H. pylori infection in the GI tract.",NIDDK,Gastritis +What are the treatments for Gastritis ?,"Health care providers treat gastritis with medications to + +- reduce the amount of acid in the stomach - treat the underlying cause + +Reduce the Amount of Acid in the Stomach + +The stomach lining of a person with gastritis may have less protection from acidic digestive juice. Reducing acid can promote healing of the stomach lining. Medications that reduce acid include + +- antacids, such as Alka-Seltzer, Maalox, Mylanta, Rolaids, and Riopan. Many brands use different combinations of three basic saltsmagnesium, aluminum, and calciumalong with hydroxide or bicarbonate ions to neutralize stomach acid. Antacids, however, can have side effects. Magnesium salt can lead to diarrhea, and aluminum salt can cause constipation. Magnesium and aluminum salts are often combined in a single product to balance these effects. Calcium carbonate antacids, such as Tums, Titralac, and Alka-2, can cause constipation. - H2 blockers, such as cimetidine (Tagamet HB), famotidine (Pepcid AC), nizatidine (Axid AR), and ranitidine (Zantac 75). H2 blockers decrease acid production. They are available in both over-the-counter and prescription strengths. - proton pump inhibitors (PPIs) include omeprazole (Prilosec, Zegerid), lansoprazole (Prevacid), dexlansoprazole (Dexilant), pantoprazole (Protonix), rabeprazole (AcipHex), and esomeprazole (Nexium). PPIs decrease acid production more effectively than H2 blockers. All of these medications are available by prescription. Omeprazole and lansoprazole are also available in over-the-counter strength. + +Treat the Underlying Cause + +Depending on the cause of gastritis, a health care provider may recommend additional treatments. + +- Treating H. pylori infection with antibiotics is important, even if a person does not have symptoms from the infection. Curing the infection often cures the gastritis and decreases the chance of developing complications, such as peptic ulcer disease, MALT lymphoma, and gastric cancer. - Avoiding the cause of reactive gastritis can provide some people with a cure. For example, if prolonged NSAID use is the cause of the gastritis, a health care provider may advise the patient to stop taking the NSAIDs, reduce the dose, or change pain medications. - Health care providers may prescribe medications to prevent or treat stress gastritis in a patient who is critically ill or injured. Medications to protect the stomach lining include sucralfate (Carafate), H2 blockers, and PPIs. Treating the underlying illness or injury most often cures stress gastritis. - Health care providers may treat people with pernicious anemia due to autoimmune atrophic gastritis with vitamin B12 injections.",NIDDK,Gastritis +How to prevent Gastritis ?,"People may be able to reduce their chances of getting gastritis by preventing H. pylori infection. No one knows for sure how H. pylori infection spreads, so prevention is difficult. To help prevent infection, health care providers advise people to + +- wash their hands with soap and water after using the bathroom and before eating - eat food that has been washed well and cooked properly - drink water from a clean, safe source",NIDDK,Gastritis +What to do for Gastritis ?,"Researchers have not found that eating, diet, and nutrition play a major role in causing or preventing gastritis.",NIDDK,Gastritis +What to do for Gastritis ?,"- Gastritis is a condition in which the stomach liningknown as the mucosais inflamed, or swollen. - Common causes of gastritis include Helicobacter pylori (H. pylori) infection, damage to the stomach lining, and an autoimmune response. - Some people who have gastritis have pain or discomfort in the upper part of the abdomen. However, many people with gastritis do not have any signs and symptoms. - Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. - A health care provider diagnoses gastritis based on a medical history, a physical exam, upper GI endoscopy, and other tests. - Health care providers treat gastritis with medications to reduce the amount of acid in the stomach and treat the underlying cause.",NIDDK,Gastritis +What is (are) What I need to know about Preparing for Pregnancy if I Have Diabetes ?,"If you have diabetes,* the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. Blood glucose targets are different for women who are trying to get pregnant. Targets are numbers you aim for. + +Pregnancy and new motherhood are times of great excitement and change for any woman. If you have type 1 or type 2 diabetes and are hoping to get pregnant soon, you can learn what to do to have a healthy baby. You can also learn how to take care of yourself and your diabetes before, during, and after your pregnancy. If you have diabetes and are already pregnant, don't panic! Just make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy. + +For Women with Gestational Diabetes More information about gestational diabetes, a type of diabetes that develops only during pregnancy, is provided in the NIDDK health topic, What I need to know about Gestational Diabetes. + +*See Pronunciation Guide for tips on how to say the words in bold type. + +If you have diabetes, your pregnancy is considered high risk, which means you have an increased risk of problems during your pregnancy. You need to pay special attention to your health, and you may need to see doctors who specialize in treating diabetes or its complications. Millions of high-risk pregnancies, such as those in which women are older than 35 or carrying two or more babies, produce perfectly healthy babies without affecting the mother's health.",NIDDK,What I need to know about Preparing for Pregnancy if I Have Diabetes +What to do for What I need to know about Preparing for Pregnancy if I Have Diabetes ?,"- If you have diabetes, the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. - Keeping your blood glucose as close to normal as possible before and during your pregnancy is the most important thing you can do to stay healthy and have a healthy baby. - Before you get pregnant, you can plan and prepare for having a healthy pregnancy and a healthy baby. If you have diabetes and are already pregnant, you can make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy. - Regular visits with members of a health care team who are experts in diabetes and pregnancy will ensure you get the best care. Your health care team can help you learn how to use a healthy eating plan, physical activity, and medicines to reach your blood glucose targets before and during pregnancy. - During pregnancy, the safest diabetes medicine is insulin. Your health care team will work with you to make a personalized insulin routine. Some medicines are not safe during pregnancy and should be stopped before you get pregnant. Your doctor can tell you which medicines to stop taking. - You will have tests throughout your pregnancy to check your baby's health. - You can give your baby a healthy start by breastfeeding.",NIDDK,What I need to know about Preparing for Pregnancy if I Have Diabetes +What is (are) Fecal Incontinence ?,"Fecal incontinence, also called a bowel control problem, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. Stool, also called feces, is solid waste that is passed as a bowel movement and includes undigested food, bacteria, mucus, and dead cells. Mucus is a clear liquid that coats and protects tissues in the digestive system. + +Fecal incontinence can be upsetting and embarrassing. Many people with fecal incontinence feel ashamed and try to hide the problem. However, people with fecal incontinence should not be afraid or embarrassed to talk with their health care provider. Fecal incontinence is often caused by a medical problem and treatment is available.",NIDDK,Fecal Incontinence +Who is at risk for Fecal Incontinence? ?,"Nearly 18 million U.S. adultsabout one in 12have fecal incontinence.1 People of any age can have a bowel control problem, though fecal incontinence is more common in older adults. Fecal incontinence is slightly more common among women. Having any of the following can increase the risk: + +- diarrhea, which is passing loose, watery stools three or more times a day - urgency, or the sensation of having very little time to get to the toilet for a bowel movement - a disease or injury that damages the nervous system - poor overall health from multiple chronic, or long lasting, illnesses - a difficult childbirth with injuries to the pelvic floorthe muscles, ligaments, and tissues that support the uterus, vagina, bladder, and rectum",NIDDK,Fecal Incontinence +What is (are) Fecal Incontinence ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. + +The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body.",NIDDK,Fecal Incontinence +What causes Fecal Incontinence ?,"Fecal incontinence has many causes, including + +- diarrhea - constipation - muscle damage or weakness - nerve damage - loss of stretch in the rectum - childbirth by vaginal delivery - hemorrhoids and rectal prolapse - rectocele - inactivity + +Diarrhea + +Diarrhea can cause fecal incontinence. Loose stools fill the rectum quickly and are more difficult to hold than solid stools. Diarrhea increases the chance of not reaching a bathroom in time. + +Constipation + +Constipation can lead to large, hard stools that stretch the rectum and cause the internal sphincter muscles to relax by reflex. Watery stool builds up behind the hard stool and may leak out around the hard stool, leading to fecal incontinence. + +The type of constipation that is most likely to lead to fecal incontinence occurs when people are unable to relax their external sphincter and pelvic floor muscles when straining to have a bowel movement, often mistakenly squeezing these muscles instead of relaxing them. This squeezing makes it difficult to pass stool and may lead to a large amount of stool in the rectum. This type of constipation, called dyssynergic defecation or disordered defecation, is a result of faulty learning. For example, children or adults who have pain when having a bowel movement may unconsciously learn to squeeze their muscles to delay the bowel movement and avoid pain. + +Muscle Damage or Weakness + +Injury to one or both of the sphincter muscles can cause fecal incontinence. If these muscles, called the external and internal anal sphincter muscles, are damaged or weakened, they may not be strong enough to keep the anus closed and prevent stool from leaking. + +Trauma, childbirth injuries, cancer surgery, and hemorrhoid surgery are possible causes of injury to the sphincters. Hemorrhoids are swollen blood vessels in and around the anus and lower rectum. + +Nerve Damage + +The anal sphincter muscles wont open and close properly if the nerves that control them are damaged. Likewise, if the nerves that sense stool in the rectum are damaged, a person may not feel the urge to go to the bathroom. Both types of nerve damage can lead to fecal incontinence. Possible sources of nerve damage are childbirth; a long-term habit of straining to pass stool; spinal cord injury; and diseases, such as diabetes and multiple sclerosis, that affect the nerves that go to the sphincter muscles and rectum. Brain injuries from stroke, head trauma, or certain diseases can also cause fecal incontinence. + +Loss of Stretch in the Rectum + +Normally, the rectum stretches to hold stool until a person has a bowel movement. Rectal surgery, radiation treatment, and inflammatory bowel diseaseschronic disorders that cause irritation and sores on the lining of the digestive systemcan cause the rectal walls to become stiff. The rectum then cant stretch as much to hold stool, increasing the risk of fecal incontinence. + +Childbirth by Vaginal Delivery + +Childbirth sometimes causes injuries to muscles and nerves in the pelvic floor. The risk is greater if forceps are used to help deliver the baby or if an episiotomya cut in the vaginal area to prevent the babys head from tearing the vagina during birthis performed. Fecal incontinence related to childbirth can appear soon after delivery or many years later. + +Hemorrhoids and Rectal Prolapse + +External hemorrhoids, which develop under the skin around the anus, can prevent the anal sphincter muscles from closing completely. Rectal prolapse, a condition that causes the rectum to drop down through the anus, can also prevent the anal sphincter muscles from closing well enough to prevent leakage. Small amounts of mucus or liquid stool can then leak through the anus. + +Rectocele + +Rectocele is a condition that causes the rectum to protrude through the vagina. Rectocele can happen when the thin layer of muscles separating the rectum from the vagina becomes weak. For women with rectocele, straining to have a bowel movement may be less effective because rectocele reduces the amount of downward force through the anus. The result may be retention of stool in the rectum. More research is needed to be sure rectocele increases the risk of fecal incontinence. + +Inactivity + +People who are inactive, especially those who spend many hours a day sitting or lying down, have an increased risk of retaining a large amount of stool in the rectum. Liquid stool can then leak around the more solid stool. Frail, older adults are most likely to develop constipation-related fecal incontinence for this reason.",NIDDK,Fecal Incontinence +How to diagnose Fecal Incontinence ?,"Health care providers diagnose fecal incontinence based on a persons medical history, physical exam, and medical test results. In addition to a general medical history, the health care provider may ask the following questions: + +- When did fecal incontinence start? - How often does fecal incontinence occur? - How much stool leaks? Does the stool just streak the underwear? Does just a little bit of solid or liquid stool leak out or does complete loss of bowel control occur? - Does fecal incontinence involve a strong urge to have a bowel movement or does it happen without warning? - For people with hemorrhoids, do hemorrhoids bulge through the anus? Do the hemorrhoids pull back in by themselves, or do they have to be pushed in with a finger? - How does fecal incontinence affect daily life? - Is fecal incontinence worse after eating? Do certain foods seem to make fecal incontinence worse? - Can passing gas be controlled? + +People may want to keep a stool diary for several weeks before their appointment so they can answer these questions. A stool diary is a chart for recording daily bowel movement details. A sample stool diary is available on the Bowel Control Awareness Campaign website at www.bowelcontrol.nih.gov. + +The person may be referred to a doctor who specializes in problems of the digestive system, such as a gastroenterologist, proctologist, or colorectal surgeon, or a doctor who specializes in problems of the urinary and reproductive systems, such as a urologist or urogynecologist. The specialist will perform a physical exam and may suggest one or more of the following tests: + +- anal manometry - anal ultrasound - magnetic resonance imaging (MRI) - defecography - flexible sigmoidoscopy or colonoscopy - anal electromyography (EMG) + +Anal manometry. Anal manometry uses pressure sensors and a balloon that can be inflated in the rectum to check the sensitivity and function of the rectum. Anal manometry also checks the tightness of the anal sphincter muscles around the anus. To prepare for this test, the person should use an enema and not eat anything 2 hours before the test. An enema involves flushing water or a laxative into the anus using a special squirt bottle. A laxative is medication that loosens stool and increases bowel movements. For this test, a thin tube with a balloon on its tip and pressure sensors below the balloon is inserted into the anus until the balloon is in the rectum and pressure sensors are located in the anal canal. The tube is slowly pulled back through the sphincter muscle to measure muscle tone and contractions. No anesthesia is needed for this test, which takes about 30 minutes. + +Anal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An anal ultrasound is specific to the anus and rectum. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The images can show the structure of the anal sphincter muscles. + +MRI. MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though people with a fear of confined spaces may be given medication to help them relax. An MRI may include the injection of special dye, called contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. MRIs can show problems with the anal sphincter muscles. MRI is an alternative to anal ultrasound that may provide more detailed information, especially about the external anal sphincter. + +Defecography. This x ray of the area around the anus and rectum shows how well the person can hold and evacuate stool. The test also identifies structural changes in the rectum and anus such as rectocele and rectal prolapse. To prepare for the test, the person uses two enemas and does not eat anything 2 hours prior to the test. During the test, the health care provider fills the rectum with a soft paste that shows up on x rays and is the same consistency as stool. The person sits on a toilet inside an x-ray machine. The person is first asked to pull in and squeeze the sphincter muscles to prevent leakage and then to strain as if having a bowel movement. The radiologist studies the x rays to identify problems with the rectum, anus, and pelvic floor muscles. + +Flexible sigmoidoscopy or colonoscopy. These tests are used to help diagnose problems causing fecal incontinence. The tests are similar, but colonoscopy is used to view the rectum and entire colon, while flexible sigmoidoscopy is used to view just the rectum and lower colon. These tests are performed at a hospital or outpatient center by a gastroenterologist. For both tests, a health care provider will provide written bowel prep instructions to follow at home. The person may be asked to follow a clear liquid diet for 1 to 3 days before either test. A laxative may be required the night before the test. One or more enemas may be required the night before and about 2 hours before the test. + +In most cases, people will be given light anesthesia, and possibly pain medication, to help them relax during flexible sigmoidoscopy. Anesthesia is used for colonoscopy. For either test, the person will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The test can show problems in the lower GI tract that may be causing the bowel control problem. The gastroenterologist may also perform a biopsy, a procedure that involves taking a piece of tissue from the bowel lining for examination with a microscope. + +The person will not feel the biopsy. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab to confirm the diagnosis. + +Cramping or bloating may occur during the first hour after these tests. Driving is not permitted for 24 hours after flexible sigmoidoscopy or colonoscopy to allow the anesthesia time to wear off. Before the appointment, a person should make plans for a ride home. Full recovery is expected by the next day and the person is able to go back to a normal diet. + +Anal EMG. Anal EMG checks the health of the pelvic floor muscles and the nerves that control the muscles. The health care provider inserts a very thin needle electrode through the skin into the muscle. The electrode on the needle picks up the electrical activity given off by the muscles and shows it as images on a monitor or sounds through a speaker. An alternative type of anal EMG uses stainless steel plates attached to the sides of a plastic plug instead of a needle. The plug is inserted into the anal canal to measure the electrical activity of the external anal sphincter and other pelvic floor muscles. The average amount of electrical activity when the person relaxes quietly, squeezes to prevent a bowel movement, and strains to have a bowel movement shows whether there is damage to the nerves that control the external sphincter and pelvic floor muscles.",NIDDK,Fecal Incontinence +What are the treatments for Fecal Incontinence ?,"Treatment for fecal incontinence may include one or more of the following: + +- eating, diet, and nutrition - medications - bowel training - pelvic floor exercises and biofeedback - surgery - electrical stimulation",NIDDK,Fecal Incontinence +What to do for Fecal Incontinence ?,"Dietary changes that may improve fecal incontinence include + +- Eating the right amount of fiber. Fiber can help with diarrhea and constipation. Fiber is found in fruits, vegetables, whole grains, and beans. Fiber supplements sold in a pharmacy or in a health food store are another common source of fiber to treat fecal incontinence. The Academy of Nutrition and Dietetics recommends consuming 20 to 35 grams of fiber a day for adults and age plus five grams for children. A 7-year-old child, for example, should get 7 plus five, or 12, grams of fiber a day. American adults consume only 15 grams a day on average.2 Fiber should be added to the diet slowly to avoid bloating. - Getting plenty to drink. Drinking eight 8-ounce glasses of liquid a day may help prevent constipation. Water is a good choice. Drinks with caffeine, alcohol, milk, or carbonation should be avoided if they trigger diarrhea. + +Keeping a Food Diary A food diary can help identify foods that cause diarrhea and increase the risk of fecal incontinence. A food diary should list foods eaten, portion size, and when fecal incontinence occurs. After a few days, the diary may show a link between certain foods and fecal incontinence. Eating less of foods linked to fecal incontinence may improve symptoms. A food diary can also be helpful to a health care provider treating a person with fecal incontinence. Common foods and drinks linked to fecal incontinence include - dairy products such as milk, cheese, and ice cream - drinks and foods containing caffeine - cured or smoked meat such as sausage, ham, and turkey - spicy foods - alcoholic beverages - fruits such as apples, peaches, and pears - fatty and greasy foods - sweeteners in diet drinks and sugarless gum and candy, including sorbitol, xylitol, mannitol, and fructose + + + +Examples of Foods That Have Fiber Beans, cereals, and breads Fiber cup of beans (navy, pinto, kidney, etc.), cooked 6.29.6 grams cup of shredded wheat, ready-to-eat cereal 2.73.8 grams cup of 100% bran, ready-to-eat cereal 9.1 grams 1 small oat bran muffin 3.0 grams 1 whole-wheat English muffin 4.4 grams Fruits 1 small apple, with skin 3.6 grams 1 medium pear, with skin 5.5 grams cup of raspberries 4.0 grams cup of stewed prunes 3.8 grams Vegetables cup of winter squash, cooked 2.9 grams 1 medium sweet potato, baked in skin 3.8 grams cup of green peas, cooked 3.54.4 grams 1 small potato, baked, with skin 3.0 grams cup of mixed vegetables, cooked 4.0 grams cup of broccoli, cooked 2.62.8 grams cup of greens (spinach, collards, turnip greens), cooked 2.53.5 grams + + + +Medications + +If diarrhea is causing fecal incontinence, medication may help. Health care providers sometimes recommend using bulk laxatives, such as Citrucel and Metamucil, to develop more solid stools that are easier to control. Antidiarrheal medications such as loperamide or diphenoxylate may be recommended to slow down the bowels and help control the problem. + +Bowel Training + +Developing a regular bowel movement pattern can improve fecal incontinence, especially fecal incontinence due to constipation. Bowel training involves trying to have bowel movements at specific times of the day, such as after every meal. Over time, the body becomes used to a regular bowel movement pattern, thus reducing constipation and related fecal incontinence. Persistence is key to successful bowel training. Achieving a regular bowel control pattern can take weeks to months. + +Pelvic Floor Exercises and Biofeedback + +Exercises that strengthen the pelvic floor muscles may improve bowel control. Pelvic floor exercises involve squeezing and relaxing pelvic floor muscles 50 to 100 times a day. A health care provider can help with proper technique. Biofeedback therapy may also help a person perform the exercises properly. This therapy also improves a persons awareness of sensations in the rectum, teaching how to coordinate squeezing of the external sphincter muscle with the sensation of rectal filling. Biofeedback training uses special sensors to measure bodily functions. Sensors include pressure or EMG sensors in the anus, pressure sensors in the rectum, and a balloon in the rectum to produce graded sensations of rectal fullness. The measurements are displayed on a video screen as sounds or line graphs. The health care provider uses the information to help the person modify or change abnormal function. The person practices the exercises at home. Success with pelvic floor exercises depends on the cause of fecal incontinence, its severity, and the persons motivation and ability to follow the health care providers recommendations. + +Surgery + +Surgery may be an option for fecal incontinence that fails to improve with other treatments or for fecal incontinence caused by pelvic floor or anal sphincter muscle injuries. + +- Sphincteroplasty, the most common fecal incontinence surgery, reconnects the separated ends of a sphincter muscle torn by childbirth or another injury. Sphincteroplasty is performed at a hospital by a colorectal, gynecological, or general surgeon. - Artificial anal sphincter involves placing an inflatable cuff around the anus and implanting a small pump beneath the skin that the person activates to inflate or deflate the cuff. This surgery is much less common and is performed at a hospital by a specially trained colorectal surgeon. - Nonabsorbable bulking agents can be injected into the wall of the anus to bulk up the tissue around the anus. The bulkier tissues make the opening of the anus narrower so the sphincters are able to close better. The procedure is performed in a health care providers office; anesthesia is not needed. The person can return to normal physical activities 1 week after the procedure. - Bowel diversion is an operation that reroutes the normal movement of stool out of the body when part of the bowel is removed. The operation diverts the lower part of the small intestine or colon to an opening in the wall of the abdomenthe area between the chest and hips. An external pouch is attached to the opening to collect stool. The procedure is performed by a surgeon in a hospital and anesthesia is used. More information about these procedures can be found in the Bowel Diversion fact sheet. + +Electrical Stimulation + +Electrical stimulation, also called sacral nerve stimulation or neuromodulation, involves placing electrodes in the sacral nerves to the anus and rectum and continuously stimulating the nerves with electrical pulses. The sacral nerves connect to the part of the spine in the hip area. A battery-operated stimulator is placed beneath the skin. Based on the persons response, the health care provider can adjust the amount of stimulation so it works best for that person. The person can turn the stimulator on or off at any time. The procedure is performed in an outpatient center using local anesthesia.",NIDDK,Fecal Incontinence +What is (are) Fecal Incontinence ?,"Fecal incontinence can cause embarrassment, fear, and loneliness. Taking steps to cope is important. The following tips can help: + +- carrying a bag with cleanup supplies and a change of clothes when leaving the house. - finding public restrooms before one is needed. - using the toilet before leaving home. - wearing disposable underwear or absorbent pads inserted in the underwear. - using fecal deodorantspills that reduce the smell of stool and gas. Although fecal deodorants are available over the counter, a health care provider can help people find them. + +Eating tends to trigger contractions of the large intestine that push stool toward the rectum and also cause the rectum to contract for 30 to 60 minutes. Both these events increase the likelihood that a person will pass gas and have a bowel movement soon after eating. This activity may increase if the person is anxious. People with fecal incontinence may want to avoid eating in restaurants or at social gatherings, or they may want to take antidiarrheal medications before eating in these situations. + +Anal Discomfort The skin around the anus is delicate and sensitive. Constipation and diarrhea or contact between skin and stool can cause pain or itching. The following steps can help relieve anal discomfort: - Washing the anal area after a bowel movement. Washing with water, but not soap, can help prevent discomfort. Soap can dry out the skin, making discomfort worse. Ideally, the anal area should be washed in the shower with lukewarm water or in a sitz batha special plastic tub that allows a person to sit in a few inches of warm water. No-rinse skin cleansers, such as Cavilon, are a good alternative. Wiping with toilet paper further irritates the skin and should be avoided. Premoistened, alcohol-free towelettes are a better choice. - Keeping the anal area dry. The anal area should be allowed to air dry after washing. If time doesnt permit air drying, the anal area can be gently patted dry with a lint-free cloth. - Creating a moisture barrier. A moisture barrier cream that contains ingredients such as dimethiconea type of siliconecan help form a barrier between skin and stool. The anal area should be cleaned before applying barrier cream. However, people should talk with their health care provider before using anal creams and ointments because some can irritate the anus. - Using nonmedicated powders. Nonmedicated talcum powder or cornstarch can also relieve anal discomfort. As with moisture barrier creams, the anal area should be clean and dry before use. - Using wicking pads or disposable underwear. Pads and disposable underwear with a wicking layer can pull moisture away from the skin. - Wearing breathable clothes and underwear. Clothes and underwear should allow air to flow and keep skin dry. Tight clothes or plastic or rubber underwear that blocks air can worsen skin problems. - Changing soiled underwear as soon as possible.",NIDDK,Fecal Incontinence +What to do for Fecal Incontinence ?,"- Fecal incontinence, also called a bowel control problem, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. - Nearly 18 million U.S. adultsabout one in 12have fecal incontinence. People with fecal incontinence should not be afraid or embarrassed to talk with their health care provider. - Fecal incontinence has many causes, including - diarrhea - constipation - muscle damage or weakness - nerve damage - loss of stretch in the rectum - childbirth by vaginal delivery - hemorrhoids and rectal prolapse - rectocele - inactivity - Health care providers diagnose fecal incontinence based on a persons medical history, physical exam, and medical test results. - Treatment for fecal incontinence may include one or more of the following: - eating, diet, and nutrition - medications - bowel training - pelvic floor exercises and biofeedback - surgery - electrical stimulation - A food diary can help identify foods that cause fecal incontinence. - Fecal incontinence can occur in children because of a birth defect or disease, but in most cases it occurs because of constipation.",NIDDK,Fecal Incontinence +What is (are) Abdominal Adhesions ?,"Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.",NIDDK,Abdominal Adhesions +What is (are) Abdominal Adhesions ?,"The abdominal cavity is the internal area of the body between the chest and hips that contains the lower part of the esophagus, stomach, small intestine, and large intestine. The esophagus carries food and liquids from the mouth to the stomach, which slowly pumps them into the small and large intestines. Abdominal adhesions can kink, twist, or pull the small and large intestines out of place, causing an intestinal obstruction. Intestinal obstruction, also called a bowel obstruction, results in the partial or complete blockage of movement of food or stool through the intestines.",NIDDK,Abdominal Adhesions +What causes Abdominal Adhesions ?,"Abdominal surgery is the most frequent cause of abdominal adhesions. Surgery-related causes include + +- cuts involving internal organs - handling of internal organs - drying out of internal organs and tissues - contact of internal tissues with foreign materials, such as gauze, surgical gloves, and stitches - blood or blood clots that were not rinsed away during surgery + +Abdominal adhesions can also result from inflammation not related to surgery, including + +- appendix rupture - radiation treatment - gynecological infections - abdominal infections + +Rarely, abdominal adhesions form without apparent cause.",NIDDK,Abdominal Adhesions +Who is at risk for Abdominal Adhesions? ?,"Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions.1 Surgery in the lower abdomen and pelvis, including bowel and gynecological operations, carries an even greater chance of abdominal adhesions. Abdominal adhesions can become larger and tighter as time passes, sometimes causing problems years after surgery.",NIDDK,Abdominal Adhesions +What are the symptoms of Abdominal Adhesions ?,"In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common.",NIDDK,Abdominal Adhesions +What are the complications of Abdominal Adhesions ?,"Abdominal adhesions can cause intestinal obstruction and female infertilitythe inability to become pregnant after a year of trying. + +Abdominal adhesions can lead to female infertility by preventing fertilized eggs from reaching the uterus, where fetal development takes place. Women with abdominal adhesions in or around their fallopian tubes have an increased chance of ectopic pregnancya fertilized egg growing outside the uterus. Abdominal adhesions inside the uterus may result in repeated miscarriagesa pregnancy failure before 20 weeks. + + + +Seek Help for Emergency Symptoms A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery. Symptoms of an intestinal obstruction include - severe abdominal pain or cramping - nausea - vomiting - bloating - loud bowel sounds - abdominal swelling - the inability to have a bowel movement or pass gas - constipationa condition in which a person has fewer than three bowel movements a week; the bowel movements may be painful A person with these symptoms should seek medical attention immediately.",NIDDK,Abdominal Adhesions +What are the symptoms of Abdominal Adhesions ?,"A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery. Symptoms of an intestinal obstruction include + +- severe abdominal pain or cramping - nausea - vomiting - bloating - loud bowel sounds - abdominal swelling - the inability to have a bowel movement or pass gas - constipationa condition in which a person has fewer than three bowel movements a week; the bowel movements may be painful + +A person with these symptoms should seek medical attention immediately.",NIDDK,Abdominal Adhesions +How to diagnose Abdominal Adhesions ?,"Abdominal adhesions cannot be detected by tests or seen through imaging techniques such as x rays or ultrasound. Most abdominal adhesions are found during surgery performed to examine the abdomen. However, abdominal x rays, a lower gastrointestinal (GI) series, and computerized tomography (CT) scans can diagnose intestinal obstructions. + +- Abdominal x rays use a small amount of radiation to create an image that is recorded on film or a computer. An x ray is performed at a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. An x ray does not require anesthesia. The person will lie on a table or stand during the x ray. The x-ray machine is positioned over the abdominal area. The person will hold his or her breath as the picture is taken so that the picture will not be blurry. The person may be asked to change position for additional pictures. - A lower GI series is an x-ray exam that is used to look at the large intestine. The test is performed at a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. The health care provider may provide written bowel prep instructions to follow at home before the test. The person may be asked to follow a clear liquid diet for 1 to 3 days before the procedure. A laxative or an enema may be used before the test. A laxative is medication that loosens stool and increases bowel movements. An enema involves fl ushing water or laxative into the rectum using a special squirt bottle. For the test, the person will lie on a table while the radiologist inserts a flexible tube into the persons anus. The large intestine is fi lled with barium, making signs of underlying problems show up more clearly on x rays. - CT scans use a combination of x rays and computer technology to create images. The procedure is performed at a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. A CT scan may include the injection of a special dye, called contrast medium. The person will lie on a table that slides into a tunnel-shaped device where the x rays are taken.",NIDDK,Abdominal Adhesions +What are the treatments for Abdominal Adhesions ?,"Abdominal adhesions that do not cause symptoms generally do not require treatment. Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems. More surgery, however, carries the risk of additional abdominal adhesions. People should speak with their health care provider about the best way to treat their abdominal adhesions. + +Complete intestinal obstructions usually require immediate surgery to clear the blockage. Most partial intestinal obstructions can be managed without surgery.",NIDDK,Abdominal Adhesions +How to prevent Abdominal Adhesions ?,"Abdominal adhesions are diffi cult to prevent; however, certain surgical techniques can minimize abdominal adhesions. + +Laparoscopic surgery decreases the potential for abdominal adhesions because several tiny incisions are made in the lower abdomen instead of one large incision. The surgeon inserts a laparoscopea thin tube with a tiny video camera attachedinto one of the small incisions. The camera sends a magnified image from inside the body to a video monitor. Patients will usually receive general anesthesia during this surgery. + +If laparoscopic surgery is not possible and a large abdominal incision is required, at the end of surgery a special fi lmlike material can be inserted between organs or between the organs and the abdominal incision. The fi lmlike material, which looks similar to wax paper and is absorbed by the body in about a week, hydrates organs to help prevent abdominal adhesions. + +Other steps taken during surgery to reduce abdominal adhesions include + +- using starch- and latex-free gloves - handling tissues and organs gently - shortening surgery time - using moistened drapes and swabs - occasionally applying saline solution",NIDDK,Abdominal Adhesions +What to do for Abdominal Adhesions ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing abdominal adhesions. A person with a partial intestinal obstruction may relieve symptoms with a liquid or low- fiber diet, which is more easily broken down into smaller particles by the digestive system.",NIDDK,Abdominal Adhesions +What to do for Abdominal Adhesions ?,"- Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Abdominal adhesions cause tissues and organs in the abdominal cavity to stick together. - Abdominal surgery is the most frequent cause of abdominal adhesions. Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions. - In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common. - A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery. - Abdominal adhesions cannot be detected by tests or seen through imaging techniques such as x rays or ultrasound. However, abdominal x rays, a lower gastrointestinal (GI) series, and computerized tomography (CT) scans can diagnose intestinal obstructions. - Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems.",NIDDK,Abdominal Adhesions +What is (are) Porphyria ?,"Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets. + +The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.",NIDDK,Porphyria +What is (are) Porphyria ?,"Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.",NIDDK,Porphyria +What is (are) Porphyria ?,"Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences: + +- Acute porphyrias affect the nervous system. They occur rapidly and last only a short time. - Cutaneous porphyrias affect the skin. + +Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms. + +Experts also classify porphyrias as erythropoietic or hepatic: + +- In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow. - In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver. + +Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup. + +Table 1. Types of porphyria + +Type of Porphyria Deficient Enzyme Main Location of Porphyrin Buildup delta-aminolevulinate-dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver acute intermittent porphyria porphobilinogen deaminase liver hereditary coproporphyria coproporphyrinogen oxidase liver variegate porphyria protoporphyrinogen oxidase liver congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow + +*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.",NIDDK,Porphyria +How many people are affected by Porphyria ?,"The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1",NIDDK,Porphyria +What causes Porphyria ?,"Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria. + +Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by + +- too much iron - use of alcohol or estrogen - smoking - chronic hepatitis Ca long-lasting liver disease that causes inflammation, or swelling, of the liver - HIVthe virus that causes AIDS - abnormal genes associated with hemochromatosisthe most common form of iron overload disease, which causes the body to absorb too much iron + +For all types of porphyria, symptoms can be triggered by + +- use of alcohol - smoking - use of certain medications or hormones - exposure to sunlight - stress - dieting and fasting",NIDDK,Porphyria +What are the symptoms of Porphyria ?,"Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include + +- oversensitivity to sunlight - blisters on exposed areas of the skin - itching and swelling on exposed areas of the skin + +Symptoms of acute porphyrias include + +- pain in the abdomenthe area between the chest and hips - pain in the chest, limbs, or back - nausea and vomiting - constipationa condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person - urinary retentionthe inability to empty the bladder completely - confusion - hallucinations - seizures and muscle weakness + +Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.",NIDDK,Porphyria +How to diagnose Porphyria ?,"A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care providers office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.",NIDDK,Porphyria +What are the treatments for Porphyria ?,"Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms. + +Acute Porphyrias + +A health care provider treats acute porphyrias with heme or glucose loading to decrease the livers production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. More information is provided in the NIDDK health topic, Liver Transplantation. + +Cutaneous Porphyrias + +The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows: + +- Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver. - Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease. - Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia. + +Secondary Porphyrinurias + +Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only highnot mild or moderatelevels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.",NIDDK,Porphyria +What to do for Porphyria ?,"People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually. + +People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure. + +A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.",NIDDK,Porphyria +What to do for Porphyria ?,"- Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. - Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. - The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America. - Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. - Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. - Symptoms of cutaneous porphyrias include - oversensitivity to sunlight - blisters on exposed areas of the skin - itching and swelling on exposed areas of the skin - Symptoms of acute porphyrias include - pain in the abdomen - pain in the chest, limbs, or back - nausea and vomiting - constipation - urinary retention - confusion - hallucinations - seizures and muscle weakness - A health care provider diagnoses porphyria with blood, urine, and stool tests. - Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.",NIDDK,Porphyria +What is (are) Polycystic Kidney Disease ?,"Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function over time. CKD may lead to kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. The two main types of PKD are autosomal dominant PKD and autosomal recessive PKD. + +PKD cysts are different from the usually harmless simple cysts that often form in the kidneys later in life. PKD cysts are more numerous and cause complications, such as high blood pressure, cysts in the liver, and problems with blood vessels in the brain and heart.",NIDDK,Polycystic Kidney Disease +What causes Polycystic Kidney Disease ?,"A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in his or her genes. In the remaining cases, the gene mutation develops spontaneously. In spontaneous cases, neither parent carries a copy of the mutated gene. + +Researchers have found three different gene mutations associated with PKD. Two of the genes are associated with autosomal dominant PKD. The third gene is associated with autosomal recessive PKD. Gene mutations that cause PKD affect proteins that play a role in kidney development. + + + +Genetic Disorders Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder. People inherit two copies of most genes; one copy from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred, a person can pass it to his or her children. Read more about genes and genetic conditions in the U.S. National Library of Medicines (NLMs) Genetics Home Reference.",NIDDK,Polycystic Kidney Disease +How many people are affected by Polycystic Kidney Disease ?,"Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2 + +Polycystic kidney disease exists around the world and in all races. The disorder occurs equally in women and men, although men are more likely to develop kidney failure from PKD. Women with PKD and high blood pressure who have had more than three pregnancies also have an increased chance of developing kidney failure.",NIDDK,Polycystic Kidney Disease +What is (are) Polycystic Kidney Disease ?,"Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. About 10 percent of autosomal dominant PKD cases occur spontaneously.4 + +The following chart shows the chance of inheriting an autosomal dominant gene mutation: + + + + + +Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.4 For this reason, health care providers often call autosomal dominant PKD adult PKD. However, the onset of kidney damage and how quickly the disorder progresses varies. In some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood. + + + + + +The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cystswhich can number in the thousandswhile roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds.",NIDDK,Polycystic Kidney Disease +What are the symptoms of Polycystic Kidney Disease ?,"In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dominant PKD.",NIDDK,Polycystic Kidney Disease +What are the complications of Polycystic Kidney Disease ?,"The complications of autosomal dominant PKD include the following: + +- Pain. Cyst infection, other types of urinary tract infections (UTIs), bleeding into cysts, kidney stones, or stretching of the fibrous tissue around the kidney because of cyst growth can cause pain in the area of the kidneys. - High blood pressure. High blood pressure is present in about half of the people with autosomal dominant PKD and normal kidney function between the ages of 20 and 35.4 Almost 100 percent of people with kidney failure and autosomal dominant PKD have high blood pressure.1 High blood pressuregreater than 140/90 mm Hgincreases the likelihood of heart disease and stroke, as well as adding to the damage already done to the kidneys by the cysts. - Kidney failure. Kidney failure means the kidneys no longer work well enough to maintain health. A person with kidney failure may have the following symptoms: - little or no urination - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - drowsiness - fatigue, or feeling tired - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps - shortness of breath - chest pain + +Untreated kidney failure can lead to coma and death. More than half of people with autosomal dominant PKD progress to kidney failure by age 70.1 + +- UTIs. Kidney cysts block the flow of urine through the kidneys. Stagnant urine can set the stage for infection. Bacteria enter the urinary tract through the urethra and spread up to the kidneys. Sometimes, the kidney cysts become infected. UTIs may cause scarring in the kidneys. - Kidney stones. About 20 percent of people with autosomal dominant PKD have kidney stones.1 Kidney stones can block the flow of urine and cause pain. - Liver cysts. Liver cysts are the most common nonkidney complication of autosomal dominant PKD.1 Liver cysts generally cause no symptoms. - Pancreatic cysts. PKD can also cause cysts in the pancreas. Pancreatic cysts rarely cause pancreatitisinflammation, or swelling, of the pancreas. - Abnormal heart valves. Abnormal heart valves may occur in up to 25 percent of people with autosomal dominant PKD.1 Insufficient blood flow in the aortathe large artery that carries blood from the heartmay result from the abnormal heart valves. - Diverticula. Diverticula are small pouches, or sacs, that push outward through weak spots in the colon wall. This complication is more common in people with PKD who have kidney failure.1 - Brain aneurysms. An aneurysm is a bulge in the wall of a blood vessel. Aneurysms in the brain might cause headaches that are severe or feel different from other headaches. Brain aneurysms can rupture, or break open, causing bleeding inside the skull. A ruptured aneurysm in the brain is a life-threatening condition and requires immediate medical attention.",NIDDK,Polycystic Kidney Disease +What is (are) Polycystic Kidney Disease ?,"Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. The signs of autosomal recessive PKD frequently appear in the earliest months of life, even in the womb, so health care providers often call it infantile PKD. In an autosomal recessive disorder, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disorder. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disorder, although the child may inherit the gene mutation. The child is a carrier of the disorder and can pass the gene mutation to the next generation. Genetic testing can show whether a parent or child is a carrier of the mutated gene. Autosomal recessive disorders do not typically appear in every generation of an affected family. + +The following chart shows the chance of inheriting an autosomal recessive mutation from parents who both carry the mutated gene: + + + + + +Read more about how people inherit genetic conditions at the NLMs Genetics Home Reference.",NIDDK,Polycystic Kidney Disease +What are the symptoms of Polycystic Kidney Disease ?,"An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure. + +Some people with autosomal recessive PKD do not develop signs or symptoms until later in childhood or even adulthood.",NIDDK,Polycystic Kidney Disease +What are the complications of Polycystic Kidney Disease ?,"Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems. + +Children born with autosomal recessive PKD often develop kidney failure before reaching adulthood. + +Liver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems. + +Additional complications of autosomal recessive PKD include high blood pressure and UTIs.",NIDDK,Polycystic Kidney Disease +How to prevent Polycystic Kidney Disease ?,"Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. See Eating, Diet, and Nutrition for diet advice on lowering blood pressure and slowing the progression of kidney disease in general. If lifestyle and diet changes do not control a persons blood pressure, a health care provider may prescribe one or more blood pressure medications, including ACE inhibitors or ARBs.",NIDDK,Polycystic Kidney Disease +What to do for Polycystic Kidney Disease ?,"A dietitian specializes in helping people who have kidney disease choose the right foods and plan healthy meals. People with any kind of kidney disease, including PKD, should talk with a dietitian about foods that should be added to their diet and foods that might be harmful. + +PKD may require diet changes for blood pressure control. Kidney disease in general also calls for certain diet changes. + +Following a healthy eating plan can help lower blood pressure. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan, which focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan + +- is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, sweets, added sugars, and sugar-containing beverages - is rich in nutrients, protein, and fiber + +More information about the DASH eating planis available from the National Heart, Lung, and Blood Institute. + +As your kidneys become more damaged, you may need to eat foods that are lower in phosphorus and potassium. The health care provider will use lab tests to watch your levels. + +Foods high in potassium include + +- bananas - oranges - potatoes - tomatoes + +Lower-potassium foods include + +- apples - peaches - carrots - green beans + +Foods higher in phosphorus include + +- large portions of meat, fish and dairy foods - bran cereals and oatmeal - beans and nuts - colas + +Lower-phosphorus alternatives include + +- fresh fruits and vegetables - breads - pasta - rice - corn and rice cereals - light-colored sodas + +People with kidney disease and high blood pressure should also limit how much sodium they get to 2,300 mg or less each day.5 + +People with CKD may need to watch how much protein they eat. Everyone needs protein. However, protein breaks down into wastes the kidneys must remove. Large amounts of protein make the kidneys work harder. High-quality proteins such as meat, fish, and eggs create fewer wastes than other sources of protein. Beans, whole grains, soy products, nuts and nut butters, and dairy products can also be good sources of protein. Most people eat more protein than they need. Eating high-quality protein and smaller portions of protein can help protect the kidneys. + +More information about nutrition for kidney disease is provided in the NIDDK health topics: + +- Nutrition for Children with Chronic Kidney Disease - Nutrition for Adults with Early Chronic Kidney Disease - Nutrition for Adults with Advanced Chronic Kidney Disease + +The National Kidney Disease Education Program offers a series of easy-to-read fact sheets about nutrition for people with CKD.",NIDDK,Polycystic Kidney Disease +What to do for Polycystic Kidney Disease ?,"- Polycystic kidney disease (PKD) is a genetic disorder that causes numerous cysts to grow in the kidneys. - A gene mutation, or defect, causes polycystic kidney disease. - Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys. - Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50. - The most common symptoms of PKD are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dominant PKD. - The complications of autosomal dominant PKD include the following: - pain - high blood pressure - kidney failure - urinary tract infections (UTIs) - kidney stones - liver cysts - pancreatic cysts - abnormal heart valves - diverticula - brain aneurysms - A health care provider diagnoses autosomal dominant PKD using imaging tests and genetic testing. - A radiologista doctor who specializes in medical imagingwill interpret the images produced by the following imaging tests: - ultrasound - computerized tomography scans - magnetic resonance imaging - Genetic testing can show whether a persons cells carry a gene mutation that causes autosomal dominant PKD. A health care provider may also use genetic testing results to determine whether someone with a family history of PKD is likely to develop the disorder in the future. Prenatal testing can diagnose autosomal recessive PKD in unborn children. - Although a cure for autosomal dominant PKD is not currently available, treatment can ease symptoms and prolong life. - Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. - The complications of autosomal recessive PKD include the following: - death due to breathing problems - kidney failure - liver scarring - high blood pressure - UTIs - A health care provider diagnoses autosomal recessive PKD with ultrasound imaging, even in a fetus or newborn. - Treatments for autosomal recessive PKD focus on the symptoms and complications. - Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. - People with any kind of kidney disease, including PKD, should talk with a dietitian about foods they should add to their diet and foods that might be harmful.",NIDDK,Polycystic Kidney Disease +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"You have two kidneys. The kidneys are shaped like beans. Each kidney is about the size of a fist. They are located just below your ribcage, one on each side of your spine. Your kidneys filter your blood. Each kidney is made of 1 million little filters. During every minute of every day, these filters take out waste materials that can hurt you. They also take out extra fluid from your blood. The wastes and extra fluid make urine. The urine flows from your kidneys to your bladder through tubes called ureters.The bladder stores urine until you urinate. Then, urine leaves the body through a tube called the urethra. + +*See the Pronunciation Guide for tips on how to say the the words in bold type.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. Failing kidneys do a poor job of removing wastes and extra fluid from your blood. Wastes and extra fluid begin to build up. The buildup of wastes can make you sick. You may have the following symptoms: + +- ankle, face, or belly swelling - stomach sickness - throwing up - loss of appetite - loss of sense of taste - feeling tired - weakness - confusion - headaches",NIDDK,What I need to know about Kidney Failure and How Its Treated +What causes What I need to know about Kidney Failure and How Its Treated ?,"Diabetes and high blood pressure are the most common causes of kidney failure. Other factors include heart and blood vessel disease and a family history of kidney failure. African Americans, Hispanics/Latinos, and American Indians are more likely to have kidney failure.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What are the treatments for What I need to know about Kidney Failure and How Its Treated ?,"The treatments for kidney failure are + +- hemodialysis - peritoneal dialysis - a kidney transplant - conservative management",NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"Hemodialysis is a treatment for kidney failure that is done in a center several times per week. Some people learn to do hemodialysis in their homes. Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. With hemodialysis, your blood is filtered outside of your body. Unfiltered blood is removed from the body and flows to the dialyzer to be cleaned. Filtered blood flows back to the body. First, a dialysis nurse places two needles into your arm. A pump on the hemodialysis machine draws your blood through one of the needles into a tube. The tube takes the blood to a filter, called a dialyzer. Inside the dialyzer, your blood flows through thin fibers that are like straws. The wastes and extra fluid leave the blood through tiny holes in the fibers. Then, a different tube carries the filtered blood back to your body through the second needle. The hemodialysis machine throws out the wastes and extra fluid, just like how your body makes urine. Hemodialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. You can do peritoneal dialysis at home because it uses your body to filter. A doctor will place a soft tube called a catheter in your belly a few weeks before you start treatment. The catheter stays in your belly permanently. + +The catheter lets you put a kind of salty water from a plastic bag into your belly. Then, you can move around and go about your day. While the salty water is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the salty water from your belly into a drain bag. The salty water removes wastes and extra fluid from your body. The salty water can be thrown away into a toilet or tub. Then you start over with a fresh bag of salty water. You will empty and fill your belly four to six times a day. + +The salty water is always in your belly soaking up wastes and extra fluid. Peritoneal dialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail. + + + +Is dialysis a cure for kidney failure? No. Hemodialysis and peritoneal dialysis help you feel better and live longer; however, they do not cure kidney failure. Although people with kidney failure are now living longer than ever, over the years kidney disease can cause problems such as heart disease, bone disease, arthritis, nerve damage, infertility, and malnutrition. These problems wont go away with dialysis; however, doctors now have new and better ways to prevent or treat them. You should discuss these problems and their treatments with your doctor.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. Then you dont have to wait. + +Once it is placed inside your body, the new kidney takes over filtering your blood. The damaged kidneys usually stay where they are. The new kidney is placed in the front-lower abdomen, on one side of the bladder. Your body normally attacks anything that shouldnt be there, such as bacteria. The body will think the new kidney shouldnt be there. You will take medicines called immunosuppressants to keep your body from attacking the new kidney. + +More information is provided in the NIDDK health topics: + +- Treatment Methods for Kidney Failure: Hemodialysis - Home Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Transplantation",NIDDK,What I need to know about Kidney Failure and How Its Treated +What are the treatments for What I need to know about Kidney Failure and How Its Treated ?,"Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. You can have conservative management in your home. You may want to go to a hospice, a special place where you receive nursing care. Some people choose conservative management when dialysis or a transplant would not help them live longer or would make them suffer longer. Without dialysis or a transplant, you may live for a few weeks or several months.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What are the treatments for What I need to know about Kidney Failure and How Its Treated ?,"If you have kidney failure, learn about the treatments and think about which one best fits you. Talk with people who are on hemodialysis or peritoneal dialysis. Ask what is good and bad about each treatment. If you make a choice and find you dont like it, talk with your doctor about trying something else. Ask your doctor about the transplant waiting list and the medicines needed after a transplant. Talk with people who have had kidney transplants and ask how it has changed their lives. + +If you plan to keep working, think about which treatment choice would make working easier. If spending time with family and friends means a lot to you, ask which treatment gives you the most free time. Find out which treatment will give you the best chance to be healthy and live longer. + +If you are thinking about conservative management, you may wish to speak with your family, friends, doctor, or mental health counselor as you decide. + +You can take control of your care by talking with your doctor. You may need time to get used to your new treatment. Kidney failure can make your life harder. Treatments can help improve your life.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What to do for What I need to know about Kidney Failure and How Its Treated ?,"Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan. + +The best diet for you will depend on which kidney failure treatment you choose after talking with your doctor. + +- Hemodialysis - Limit how much liquid and water you drink. Fluid can build up in your body between hemodialysis sessions. Also, many foods contain water. The extra fluid in your body can cause swelling and high blood pressure. Extra fluid in your body makes your heart work harder. + +- - Limit sodium, or salt. Watch out for sodium in frozen foods and prepared meals. You can also find sodium in canned foods, hot dogs, and fast food. Sodium makes you thirsty, which makes you drink more water and other liquids than you should. - Read more in the National Kidney Disease Education Program (NKDEP) fact sheet Sodium. - Limit potassium. Potassium is found in many fruits and vegetables such as potatoes, tomatoes, oranges, and bananas. Too much potassium can make your heart beat unevenly. Hemodialysis does not remove potassium from your body well. - Read more in the NKDEP fact sheet Potassium. - Eat protein-rich foods such as meat, fish, and eggs. Hemodialysis removes protein from your body. - Read more in the NKDEP fact sheet Protein. - Limit phosphorus. Phosphorus helps your bones, blood vessels, and muscles work. - However, too much phosphorus can make your bones weak. Limiting phosphorus can be hard. Foods that contain phosphorus, such as meat and milk, also contain protein that you need. You should be careful to eat enough protein, yet not so much that you get too much phosphorus. You can avoid other foods that contain phosphorus, such as cola, tea, beans, and nuts. - Read more in the NKDEP fact sheet Phosphorus. - Find healthy ways to add calories to your diet. Calories are found in all foods and give your body energy. Many people on hemodialysis do not have a good appetite and do not get enough calories. Vegetable oils are good sources of calories. Vegetable oils include olive oil, canola oil, and safflower oil. Use them on breads, rice, and noodles. Hard candy, sugar, honey, jam, and jelly provide calories and energy. However, if you have diabetes, speak with your doctor or dietitian before eating extra sweets. - More information about nutrition for people who are on hemodialysis is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis. - Peritoneal dialysis - Drink as much water and other liquids as you need. If you are holding too much fluid or too little fluid, your doctor needs to know. - Limit sodium to control your thirst and help prevent heart problems. You can use spices other than salt to flavor your food. + +- - You may need to eat more potassium-rich foods. Peritoneal dialysis removes potassium from your body. Talk with your doctor or dietitian about the right amount of potassium for you. - Eat protein-rich foods. Peritoneal dialysis removes even more protein from your body than hemodialysis. - Limit phosphorus to keep your bones strong. - You may need to limit your calorie intake. The salty water also contains some sugar. Your body absorbs the sugar, which can cause you to gain weight. - Kidney transplant - Limit sodium to help prevent heart problems. - You should be able to eat normal amounts of phosphorus and potassium. You may need to adjust the amounts if blood tests show a problem. + +- - Eat protein-rich foods to repair muscle breakdown and protect against infection. - You may need to limit your calories. The medicines you take can make you gain weight. - Conservative management - Limit protein to prevent the buildup of wastes in your blood. + +You may have other needs and limits, depending on how well your treatments work.",NIDDK,What I need to know about Kidney Failure and How Its Treated +What to do for What I need to know about Kidney Failure and How Its Treated ?,- Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. - The treatments for kidney failure are - hemodialysis - peritoneal dialysis - a kidney transplant - conservative management - Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. - A kidney transplant places a healthy kidney from another person into your body. - Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. - All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices.,NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face. + +Booklets + +- What I need to know about Kidney Failure and How its Treated - Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis + +Fact Sheets + +- Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure + +Learning as much as you can about your treatment will help make you an important member of your health care team. + + + + + +This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. + +The NIDDK would like to thank: Neil R. Powe, M.D., M.P.H., M.B.A., University of California, San Francisco; Delphine Tuot, M.D.C.M., M.A.S., University of California, San Francisco; Vicki McClelland and Brian Testerman, both of the Free Medical Clinic of Northern Shenandoah Valley in Winchester, VA + +This information is not copyrighted. The NIDDK encourages people to share this content freely. + + + + + +September 2014",NIDDK,What I need to know about Kidney Failure and How Its Treated +What is (are) Perineal Injury in Males ?,"Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. Injuries to the perineum can happen suddenly, as in an accident, or gradually, as the result of an activity that persistently puts pressure on the perineum. Sudden damage to the perineum is called an acute injury, while gradual damage is called a chronic injury.",NIDDK,Perineal Injury in Males +What are the complications of Perineal Injury in Males ?,"Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as + +- bladder control problems - sexual problems + +Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. Those same nerves carry signals from the brain to the bladder and pelvic floor muscles, directing those muscles to hold or release urine. Injury to those nerves can block or interfere with the signals, causing the bladder to squeeze at the wrong time or not to squeeze at all. Damage to the pelvic floor muscles can cause bladder and bowel control problems. + +Sexual problems. The perineal nerves also carry signals between the genitals and the brain. Injury to those nerves can interfere with the sensations of sexual contact. + +Signals from the brain direct the smooth muscles in the genitals to relax, causing greater blood flow into the penis. In men, damaged blood vessels can cause erectile dysfunction (ED), the inability to achieve or maintain an erection firm enough for sexual intercourse. An internal portion of the penis runs through the perineum and contains a section of the urethra. As a result, damage to the perineum may also injure the penis and urethra.",NIDDK,Perineal Injury in Males +What causes Perineal Injury in Males ?,"Common causes of acute perineal injury in males include + +- perineal surgery - straddle injuries - sexual abuse - impalement + +Perineal Surgery + +Acute perineal injury may result from surgical procedures that require an incision in the perineum: + +- A prostatectomy is the surgical removal of the prostate to treat prostate cancer. The prostate, a walnut-shaped gland in men, surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. The surgeon chooses the location for the incision based on the patients physical characteristics, such as size and weight, and the surgeons experience and preferences. In one approach, called the radical perineal prostatectomy, the surgeon makes an incision between the scrotum and the anus. In a retropubic prostatectomy, the surgeon makes the incision in the lower abdomen, just above the penis. Both approaches can damage blood vessels and nerves affecting sexual function and bladder control. - Perineal urethroplasty is surgery to repair stricture, or narrowing, of the portion of the urethra that runs through the perineum. Without this procedure, some men would not be able to pass urine. However, the procedure does require an incision in the perineum, which can damage blood vessels or nerves. - Colorectal or anal cancer surgery can injure the perineum by cutting through some of the muscle around the anus to remove a tumor. One approach to anal cancer surgery involves making incisions in the abdomen and the perineum. + +Surgeons try to avoid procedures that damage a persons blood vessels, perineal nerves, and muscles. However, sometimes a perineal incision may achieve the best angle to remove a life-threatening cancer. + +People should discuss the risks of any planned surgery with their health care provider so they can make an informed decision and understand what to expect after the operation. + +Straddle Injuries + +Straddle injuries result from falls onto objects such as metal bars, pipes, or wooden rails, where the persons legs are on either side of the object and the perineum strikes the object forcefully. These injuries include motorcycle and bike riding accidents, saddle horn injuries during horseback riding, falls on playground equipment such as monkey bars, and gymnastic accidents on an apparatus such as the parallel bars or pommel horse. + +In rare situations, a blunt injury to the perineum may burst a blood vessel inside the erectile tissue of the penis, causing a persistent partial erection that can last for days to years. This condition is called high-flow priapism. If not treated, ED may result. + +Sexual Abuse + +Forceful and inappropriate sexual contact can result in perineal injury. When health care providers evaluate injuries in the genital area, they should consider the possibility of sexual abuse, even if the person or family members say the injury is the result of an accident such as a straddle injury. The law requires that health care providers report cases of sexual abuse that come to their attention. The person and family members should understand the health care provider may ask some uncomfortable questions about the circumstances of the injury. + +Impalement + +Impalement injuries may involve metal fence posts, rods, or weapons that pierce the perineum. Impalement is rare, although it may occur where moving equipment and pointed tools are in use, such as on farms or construction sites. Impalement can also occur as the result of a fall, such as from a tree or playground equipment, onto something sharp. Impalement injuries are most common in combat situations. If an impalement injury pierces the skin and muscles, the injured person needs immediate medical attention to minimize blood loss and repair the injury.",NIDDK,Perineal Injury in Males +What causes Perineal Injury in Males ?,"Chronic perineal injury most often results from a job-or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation. + +Bike Riding + +Sitting on a narrow, saddle-style bike seatwhich has a protruding nose in the frontplaces far more pressure on the perineum than sitting in a regular chair. In a regular chair, the flesh and bone of the buttocks partially absorb the pressure of sitting, and the pressure occurs farther toward the back than on a bike seat. The straddling position on a narrow seat pinches the perineal blood vessels and nerves, possibly causing blood vessel and nerve damage over time. Research shows wider, noseless seats reduce perineal pressure.1 + +Occasional bike riding for short periods of time may pose no risk. However, men who ride bikes several hours a weeksuch as competitive bicyclists, bicycle couriers, and bicycle patrol officershave a significantly higher risk of developing mild to severe ED.2 The ED may be caused by repetitive pressure on blood vessels, which constricts them and results in plaque buildup in the vessels. + +Other activities that involve riding saddle-style include motorcycle and horseback riding. Researchers have studied bike riding more extensively than these other activities; however, the few studies published regarding motorcycle and horseback riding suggest motorcycle riding increases the risk of ED and urinary symptoms.3 Horseback riding appears relatively safe in terms of chronic injury,4 although the action of bouncing up and down, repeatedly striking the perineum, has the potential for causing damage. + +Constipation + +Constipation is defined as having a bowel movement fewer than three times per week. People with constipation usually have hard, dry stools that are small in size and difficult to pass. Some people with constipation need to strain to pass stools. This straining creates internal pressure that squeezes the perineum and can damage the perineal blood vessels and nerves. More information is provided in the NIDDK health topic, Constipation.",NIDDK,Perineal Injury in Males +Who is at risk for Perineal Injury in Males? ?,"Men who have perineal surgery are most likely to have an acute perineal injury. Straddle injuries are most common among people who ride motorcycles, bikes, or horses and children who use playground equipment. Impalement injuries are most common in military personnel engaged in combat. Impalement injuries can also occur in construction or farm workers. + +Chronic perineal injuries are most common in people who ride bikes as part of a job or sport, or in people with constipation.",NIDDK,Perineal Injury in Males +What are the treatments for Perineal Injury in Males ?,"Treatments for perineal injury vary with the severity and type of injury. Tears or incisions may require stitches. Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection. After a health care provider stabilizes an acute injury so blood loss is no longer a concern, a person may still face some long-term effects of the injury, such as bladder control and sexual function problems. A health care provider can treat high-flow priapism caused by a blunt injury to the perineum with medication, blockage of the burst blood vessel under x-ray guidance, or surgery. + +In people with a chronic perineal injury, a health care provider will treat the complications of the condition. More information is provided in the NIDDK health topics: + +- Erectile Dysfunction - Urinary Incontinence in Men + +More information about the lower urinary tract is provided in the NIDDK health topic, The Urinary Tract and How It Works.",NIDDK,Perineal Injury in Males +How to prevent Perineal Injury in Males ?,"Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding: + +- People should talk with their health care provider about the benefits and risks of perineal surgery well before the operation. - People who play or work around moving equipment or sharp objects should wear protective gear whenever possible. - People who ride bikes, motorcycles, or horses should find seats or saddles designed to place the most pressure on the buttocks and minimize pressure on the perineum. Many health care providers advise bike riders to use noseless bike seats and to ride in an upright position rather than lean over the handle bars. The National Institute for Occupational Safety and Health, part of the Centers for Disease Control and Prevention, recommends noseless seats for people who ride bikes as part of their job.1 - People with constipation should talk with their health care provider about whether to take a laxative or stool softener to minimize straining during a bowel movement.",NIDDK,Perineal Injury in Males +What to do for Perineal Injury in Males ?,"To prevent constipation, a diet with 20 to 35 grams of fiber each day helps the body form soft, bulky stool that is easier to pass. High-fiber foods include beans, whole grains and bran cereals, fresh fruits, and vegetables such as asparagus, brussels sprouts, cabbage, and carrots. For people prone to constipation, limiting foods that have little or no fiber, such as ice cream, cheese, meat, and processed foods, is also important. A health care provider can give information about how changes in eating, diet, and nutrition could help with constipation.",NIDDK,Perineal Injury in Males +What to do for Perineal Injury in Males ?,"- Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. - Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as - bladder control problems - sexual problems - Common causes of acute perineal injury in males include - perineal surgery - straddle injuries - sexual abuse - impalement - Chronic perineal injury most often results from a job- or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation. - Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection. - In people with a chronic perineal injury, a health care provider will treat the complications of the condition, such as erectile dysfunction (ED) and urinary incontinence. - Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding. - The National Institute for Occupational Safety and Health, part of the Centers for Disease Control and Prevention, recommends noseless seats for people who ride bikes as part of their job.",NIDDK,Perineal Injury in Males +What is (are) Ectopic Kidney ?,"An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. About one in 900 people has an ectopic kidney.1",NIDDK,Ectopic Kidney +What is (are) Ectopic Kidney ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine a person produces each day. The urine flows to the bladder through tubes called ureters where it is stored until being released through urination.",NIDDK,Ectopic Kidney +What causes Ectopic Kidney ?,"During fetal development, a babys kidneys first appear as buds inside the pelvisthe bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organsnear the bladder. As the kidneys develop, they move gradually toward their usual position in the back near the rib cage. Sometimes, one of the kidneys remains in the pelvis or stops moving before it reaches its usual position. In other cases, the kidney moves higher than the usual position. Rarely does a child have two ectopic kidneys. + +Most kidneys move toward the rib cage, but one may cross over so that both kidneys are on the same side of the body. When a crossover occurs, the two kidneys often grow together and become fused. + +Factors that may lead to an ectopic kidney include + +- poor development of a kidney bud - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position - genetic abnormalities - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects",NIDDK,Ectopic Kidney +What are the symptoms of Ectopic Kidney ?,"An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. Many people have an ectopic kidney and do not discover it until they have tests done for other reasons. Sometimes, a health care provider may discover an ectopic kidney after feeling a lump in the abdomen during an examination. In other cases, an ectopic kidney may cause abdominal pain or urinary problems.",NIDDK,Ectopic Kidney +What are the complications of Ectopic Kidney ?,"Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Sometimes, urine can even flow backwards from the bladder to the kidney, a problem called vesicoureteral reflux (VUR). More information about VUR is provided in the NIDDK health topic, Vesicoureteral Reflux. + +Abnormal urine flow and the placement of the ectopic kidney can lead to various problems: + +- Infection. Normally, urine flow washes out bacteria and keeps them from growing in the kidneys and urinary tract. When a kidney is out of the usual position, urine may get trapped in the ureter or in the kidney itself. Urine that remains in the urinary tract gives bacteria the chance to grow and spread. Symptoms of a urinary tract infection include frequent or painful urination, back or abdominal pain, fever, chills, and cloudy or foul-smelling urine. - Stones. Urinary stones form from substances found in the urine, such as calcium and oxalate. When urine remains in the urinary tract for too long, the risk that these substances will have time to form stones is increased. Symptoms of urinary stones include extreme pain in the back, side, or pelvis; blood in the urine; fever or chills; vomiting; and a burning feeling during urination. - Kidney damage. If urine backs up all the way to the kidney, damage to the kidney can occur. As a result, the kidney cant filter wastes and extra water from the blood. One ectopic kidney, even when it has no function, will not cause kidney failure. The other kidney can usually perform the functions of two healthy kidneys. Total kidney failure happens only in rare cases when both kidneys are damaged. - Trauma. If the ectopic kidney is in the lower abdomen or pelvis, it may be susceptible to injury from blunt trauma. People with an ectopic kidney who want to participate in body contact sports may want to wear protective gear.",NIDDK,Ectopic Kidney +How to diagnose Ectopic Kidney ?,"A health care provider may use one or more of the following imaging tests to diagnose an ectopic kidney: + +- Ultrasound. An ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of the kidneys. - Intravenous pyelogram (IVP). An IVP is an x ray of the urinary tract. A special dye, called contrast medium, is injected into a vein in the persons arm, travels through the body to the kidneys, and makes urine visible on the x ray. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. An IVP can show a blockage in the urinary tract. In children, ultrasounds are usually done instead of IVPs. - Voiding cystourethrogram (VCUG). A VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The bladder and urethra are filled with contrast medium to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the person urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some people. The test can show abnormalities of the inside of the urethra and bladder and whether urine is backing up toward the kidneys during urination. - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. This test can show the location of an ectopic kidney and whether the ureters are blocked. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. MRIs can show the location of the kidneys. + +In addition to imaging tests, blood tests may be done to determine how well the kidneys are working. These tests are almost always normal in people with an ectopic kidney, even if it is badly damaged, because the other kidney usually has completely normal function.",NIDDK,Ectopic Kidney +What are the treatments for Ectopic Kidney ?,"No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. + +If tests show an obstruction, surgery may be needed to correct the position of the kidney to allow for better drainage of urine. Reflux can be corrected by surgery to alter the ureter or injection of a gellike liquid into the bladder wall near the opening of the ureter. + +If extensive kidney damage has occurred, surgery may be needed to remove the kidney. As long as the other kidney is working properly, losing one kidney should have no adverse health effects. More information is provided in the NIDDK health topic, Solitary Kidney. + +With the right testing and treatment, if needed, an ectopic kidney should cause no serious long-term health problems.",NIDDK,Ectopic Kidney +What to do for Ectopic Kidney ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing an ectopic kidney.",NIDDK,Ectopic Kidney +What to do for Ectopic Kidney ?,"- An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. - Factors that may lead to an ectopic kidney include - poor development of a kidney bud - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position - genetic abnormalities - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects - An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. - Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Abnormal urine flow and the placement of the ectopic kidney can lead to various problems such as infection, stones, kidney damage, and injury from trauma. - No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. Surgery or other treatment may be needed if there is an obstruction, reflux, or extensive damage to the kidney.",NIDDK,Ectopic Kidney +What is (are) Multiple Endocrine Neoplasia Type 1 ?,"MEN1 is an inherited disorder that causes tumors in the endocrine glands and the duodenum, the first part of the small intestine. MEN1 is sometimes called multiple endocrine adenomatosis or Wermer's syndrome, after one of the first doctors to recognize it. MEN1 is rare, occurring in about one in 30,000 people.1 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. + +Endocrine glands release hormones into the bloodstream. Hormones are powerful chemicals that travel through the blood, controlling and instructing the functions of various organs. Normally, the hormones released by endocrine glands are carefully balanced to meet the body's needs. + +In people with MEN1, multiple endocrine glands form tumors and become hormonally overactive, often at the same time. The overactive glands may include the parathyroids, pancreas, or pituitary. Most people who develop overactivity of only one endocrine gland do not have MEN1.",NIDDK,Multiple Endocrine Neoplasia Type 1 +What to do for Multiple Endocrine Neoplasia Type 1 ?,"- Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder that causes hormone-secreting tumors in the duodenum and the endocrine glands-most often the parathyroid, pancreas, and pituitary. - Overactive parathyroid glands can lead to tiredness, weakness, muscle or bone pain, constipation, indigestion, kidney stones, or thinning of bones. - Pancreatic and duodenal endocrine tumors called gastrinomas can cause dangerous stomach or intestinal ulcers. - Pituitary tumors called prolactinomas can cause excessive production of breast milk or interfere with fertility in women or with sex drive and fertility in men. - Although many tumors associated with MEN1 are benign, about half of people with MEN1 will eventually develop a cancerous tumor. - MEN1 carriers can be detected through gene testing or other laboratory tests. - MEN1 cannot be cured, but regular testing can detect the problems caused by MEN1 tumors many years before serious complications develop. Careful monitoring enables doctors to adjust an individual's treatment as needed.",NIDDK,Multiple Endocrine Neoplasia Type 1 +What is (are) Hematuria (Blood in the Urine) ?,"Hematuria is blood in the urine. Two types of blood in the urine exist. Blood that can be seen in the urine is called gross hematuria. Blood that cannot be seen in the urine, except when examined with a microscope, is called microscopic hematuria.",NIDDK,Hematuria (Blood in the Urine) +What are the symptoms of Hematuria (Blood in the Urine) ?,"Most people with microscopic hematuria do not have symptoms. People with gross hematuria have urine that is pink, red, or cola-colored due to the presence of red blood cells (RBCs). Even a small amount of blood in the urine can cause urine to change color. In most cases, people with gross hematuria do not have other symptoms. However, people with gross hematuria that includes blood clots in the urine may have pain.",NIDDK,Hematuria (Blood in the Urine) +What is (are) Hematuria (Blood in the Urine) ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.",NIDDK,Hematuria (Blood in the Urine) +What causes Hematuria (Blood in the Urine) ?,"Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include + +- cancer of the kidney or bladder - inflammation of the kidney, urethra, bladder, or prostatea walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen - polycystic kidney diseasean inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time, taking over and destroying working kidney tissue - blood clots - blood clotting disorders, such as hemophilia - sickle cell diseasean inherited disorder in which RBCs form an abnormal crescent shape, resulting in less oxygen delivered to the bodys tissues, clogging of small blood vessels, and disruption of healthy blood flow",NIDDK,Hematuria (Blood in the Urine) +Who is at risk for Hematuria (Blood in the Urine)? ?,"Almost anyone, including children and teens, can have hematuria. Factors that increase the chance a person will have hematuria include + +- a family history of kidney disease - an enlarged prostate, which typically occurs in men age 50 or older - urinary stone disease - certain medications including aspirin and other pain relievers, blood thinners, and antibiotics - strenuous exercise such as long-distance running - a recent bacterial or viral infection",NIDDK,Hematuria (Blood in the Urine) +How to diagnose Hematuria (Blood in the Urine) ?,"Hematuria is diagnosed with urinalysis, which is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when RBCs are present in urine. When blood is visible in the urine or a dipstick test of the urine indicates the presence of RBCs, a health care provider examines the urine with a microscope to make an initial diagnosis of hematuria. The next step is to diagnose the cause of the hematuria. + +The health care provider will take a thorough medical history. If the history suggests a cause that does not require treatment, the urine should be tested again after 48 hours for the presence of RBCs. If two of three urine samples show too many RBCs when viewed with a microscope, more serious causes should be explored. The health care provider may order one or more of the following tests: + +- Urinalysis. Further testing of the urine may be done to check for problems that can cause hematuria, such as infection, kidney disease, and cancer. The presence of white blood cells signals a UTI. RBCs that are misshapen or clumped together to form little tubes, called casts, may indicate kidney disease. Large amounts of protein in the urine, called proteinuria, may also indicate kidney disease. The urine can also be tested for the presence of cancer cells. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. A blood test can show the presence of high levels of creatinine, a waste product of normal muscle breakdown, which may indicate kidney disease. - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsyis performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography (CT) scan to guide the biopsy needle into the kidney. The kidney tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test helps diagnose the type of kidney disease causing hematuria. - Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument to look inside the urethra and bladder. Cystoscopy is performed by a health care provider in the office, an outpatient facility, or a hospital with local anesthesia. However, in some cases, sedation and regional or general anesthesia are needed. Cystoscopy may be used to look for cancer cells in the bladder, particularly if cancer cells are found with urinalysis. More information is provided in the NIDDK health topic,Cystoscopy and Ureteroscopy. - Kidney imaging tests. Intravenous pyelogram (IVP) is an x ray of the urinary tract. A special dye, called contrast medium, is injected into a vein in the persons arm, travels through the body to the kidneys, and makes urine visible on the x ray. The contrast medium also shows any blockage in the urinary tract. When a small mass is found with IVP, another imaging test, such as an ultrasound, CT scan, or magnetic resonance imaging (MRI), can be used to further study the mass. Imaging tests are performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed, though light sedation may be used in some cases. Imaging tests may show a tumor, a kidney or bladder stone, an enlarged prostate, or other blockage of the normal flow of urine. More information is provided in the NIDDK health topic, Imaging of the Urinary Tract.",NIDDK,Hematuria (Blood in the Urine) +What are the treatments for Hematuria (Blood in the Urine) ?,"Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved.",NIDDK,Hematuria (Blood in the Urine) +What to do for Hematuria (Blood in the Urine) ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing hematuria.",NIDDK,Hematuria (Blood in the Urine) +What to do for Hematuria (Blood in the Urine) ?,"- Hematuria is blood in the urine. - Most people with microscopic hematuria do not have symptoms. People with gross hematuria have urine that is pink, red, or cola-colored due to the presence of red blood cells (RBCs). - Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include - cancer of the kidney or bladder - inflammation of the kidney, urethra, bladder, or prostate - polycystic kidney disease - blood clots - blood clotting disorders, such as hemophilia - sickle cell disease - When blood is visible in the urine or a dipstick test of the urine indicates the presence of RBCs, the urine is examined with a microscope to make an initial diagnosis of hematuria. The next step is to diagnose the cause of the hematuria. - If a thorough medical history suggests a cause that does not require treatment, the urine should be tested again after 48 hours for the presence of RBCs. If two of three urine samples show too many RBCs when viewed with a microscope, more serious causes should be explored. - One or more of the following tests may be ordered: urinalysis, blood test, biopsy, cytoscopy, and kidney imaging tests. - Hematuria is treated by treating its underlying cause.",NIDDK,Hematuria (Blood in the Urine) +What is (are) Urine Blockage in Newborns ?,"The urinary tract is the bodys drainage system for removing wastes and extra fluid. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults. The amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. + +The kidneys and urinary system keep fluids and natural chemicals in the body balanced. While a baby is developing in the mothers womb, called prenatal development, the placentaa temporary organ joining mother and babycontrols much of that balance. The babys kidneys begin to produce urine at about 10 to 12 weeks after conception. However, the mothers placenta continues to do most of the work until the last few weeks of the pregnancy. Wastes and extra water are removed from the babys body through the umbilical cord. The babys urine is released into the amniotic sac and becomes part of the amniotic fluid. This fluid plays a role in the babys lung development.",NIDDK,Urine Blockage in Newborns +What causes Urine Blockage in Newborns ?,"Many types of defects in the urinary tract can cause urine blockage: + +- Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. Severe reflux may prevent a kidney from developing normally and may increase the risk for damage from infections after birth. VUR usually affects only one ureter and kidney, though it can affect both ureters and kidneys. - Ureteropelvic junction (UPJ) obstruction. If urine is blocked where the ureter joins the kidney, only the kidney swells. The ureter remains a normal size. UPJ obstruction usually occurs in only one kidney. + +- Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at the opening of the bladder.Posterior urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, is a birth defect in boys in which an abnormal fold of tissue in the urethra keeps urine from flowing freely out of the bladder. This defect may cause swelling in the entire urinary tract, including the urethra, bladder, ureters, and kidneys. - Ureterocele. If the end of the ureter does not develop normally, it can bulge, creating a ureterocele. The ureterocele may obstruct part of the ureter or the bladder. + +Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract: + +- Prune belly syndrome (PBS). PBS is a group of birth defects involving poor development of the abdominal muscles, enlargement of the ureters and bladder, and both testicles remaining inside the body instead of descending into the scrotum. The skin over the abdomen is wrinkled, giving the appearance of a prune. PBS usually occurs in boys, and most children with PBS have hydronephrosisswelling in the kidneyand VUR. - Esophageal atresia (EA). EA is a birth defect in which the esophagusthe muscular tube that carries food and liquids from the mouth to the stomachlacks the opening for food to pass into the stomach. Babies born with EA may also have problems with their spinal columns, digestive systems, hearts, and urinary tracts. - Congenital heart defects. Heart defects range from mild to life threatening. Children born with heart defects also have a higher rate of problems in the urinary tract than children in the general population, suggesting that some types of heart and urinary defects may have a common genetic cause. + +Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. These defects may interrupt nerve signals between the bladder, spinal cord, and brain, which are needed for urination, and lead to urinary retentionthe inability to empty the bladder completelyin newborns. Urine that remains in the bladder can reflux into the ureters and kidneys, causing swelling.",NIDDK,Urine Blockage in Newborns +What are the symptoms of Urine Blockage in Newborns ?,"Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI), including + +- fever - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, bloody, or foul-smelling urine - urinating often + +If these symptoms persist, the child should see a health care provider. A child 2 months of age or younger with a fever should see a health care provider immediately. The health care provider will ask for a urine sample to test for bacteria.",NIDDK,Urine Blockage in Newborns +What are the complications of Urine Blockage in Newborns ?,"When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. + +Hydronephrosis is the most common problem found during prenatal ultrasound of a baby in the womb. The swelling may be easy to see or barely detectable. The results of hydronephrosis may be mild or severe, yet the long-term outcome for the childs health cannot always be predicted by the severity of swelling. Urine blockage may damage the developing kidneys and reduce their ability to filter. In the most severe cases of urine blockage, where little or no urine leaves the babys bladder, the amount of amniotic fluid is reduced to the point that the babys lung development is threatened. + +After birth, urine blockage may raise a childs risk of developing a UTI. Recurring UTIs can lead to more permanent kidney damage.",NIDDK,Urine Blockage in Newborns +How to diagnose Urine Blockage in Newborns ?,"Defects of the urinary tract may be diagnosed before or after the baby is born. + +Diagnosis before Birth + +Tests during pregnancy can help determine if the baby is developing normally in the womb. + +- Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A prenatal ultrasound can show internal organs within the baby. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by - a radiologista doctor who specializes in medical imaging, or - an obstetriciana doctor who delivers babies + +The images can show enlarged kidneys, ureters, or bladders in babies. + +- Amniocentesis. Amniocentesis is a procedure in which amniotic fluid is removed from the mothers womb for testing. The procedure can be performed in the health care providers office, and local anesthetic may be used. The health care provider inserts a thin needle through the abdomen into the uterus to obtain a small amount of amniotic fluid. Cells from the fluid are grown in a lab and then analyzed. The health care provider usually uses ultrasound to find the exact location of the baby. The test can show whether the baby has certain birth defects and how well the babys lungs are developing. - Chorionic villus sampling (CVS). CVS is the removal of a small piece of tissue from the placenta for testing. The procedure can be performed in the health care providers office; anesthesia is not needed. The health care provider uses ultrasound to guide a thin tube or needle through the vagina or abdomen into the placenta. Cells are removed from the placenta and then analyzed. The test can show whether the baby has certain genetic defects. + +Most healthy women do not need all of these tests. Ultrasound exams during pregnancy are routine. Amniocentesis and CVS are recommended only when a risk of genetic problems exists because of family history or a problem is detected during an ultrasound. Amniocentesis and CVS carry a slight risk of harming the baby and mother or ending the pregnancy in miscarriage, so the risks should be carefully considered. + +Diagnosis after Birth + +Different imaging techniques can be used in infants and children to determine the cause of urine blockage. + +- Ultrasound. Ultrasound can be used to view the childs urinary tract. For infants, the image is clearer than could be achieved while the baby was in the womb. - Voiding cystourethrogram (VCUG). VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The procedure is performed in an outpatient center or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. While anesthesia is not needed, sedation may be used for some children. The bladder and urethra are filled with a special dye, called contrast medium, to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the child urinates. The test can show reflux or blockage of the bladder due to an obstruction, such as PUV. - Radionuclide scan. A radionuclide scan is an imaging technique that detects small amounts of radiation after a person is injected with radioactive chemicals. The dose of the radioactive chemicals is small; therefore, the risk of causing damage to cells is low. Radionuclide scans are performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radioactive chemicals injected into the blood can provide information about kidney function.",NIDDK,Urine Blockage in Newborns +What are the treatments for Urine Blockage in Newborns ?,"Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. The health care provider should keep track of the condition with frequent ultrasounds. + +Surgery + +If the urine blockage threatens the life of the unborn baby, a fetal surgeon may recommend surgery to insert a shunt or correct the problem causing the blockage. A shunt is a small tube that can be inserted into the babys bladder to release urine into the amniotic sac. The procedure is similar to amniocentesis, in that a needle is inserted through the mothers abdomen. Ultrasound guides placement of the shunt, which is attached to the end of the needle. Alternatively, an endoscopea small, flexible tube with a lightcan be used to place a shunt or to repair the problem causing the blockage. Fetal surgery carries many risks, so it is performed only in special circumstances, such as when the amniotic fluid is absent and the babys lungs are not developing or when the kidneys are severely damaged. + +If the urinary defect does not correct itself after the child is born, and the child continues to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. The decision to operate depends on the degree of blockage. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs. + +Antibiotics + +Antibiotics are bacteria-fighting medications. A child with possible urine blockage or VUR may be given antibiotics to prevent UTIs from developing until the urinary defect corrects itself or is corrected with surgery. + +Intermittent Catheterization + +Intermittent catheterization may be used for a child with urinary retention due to a nerve disease. The parent or guardian, and later the child, is taught to drain the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder. Emptying the bladder in this way helps to decrease kidney damage, urine leakage, and UTIs.",NIDDK,Urine Blockage in Newborns +What to do for Urine Blockage in Newborns ?,"Researchers have not found that a mothers eating, diet, and nutrition play a role in causing or preventing urine blockage in newborns.",NIDDK,Urine Blockage in Newborns +What to do for Urine Blockage in Newborns ?,"- Many types of defects in the urinary tract can cause urine blockage: - vesicoureteral reflux (VUR) - ureteropelvic junction (UPJ) obstruction - bladder outlet obstruction (BOO), such as posterior urethral valves (PUV) - ureterocele - Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract: - prune belly syndrome (PBS) - esophageal atresia (EA) - congenital heart defects - Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. - Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI). - When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. - Defects of the urinary tract may be discovered before or after the baby is born. - Prenatal tests include ultrasound, amniocentesis, and chorionic villus sampling (CVS). - Different imaging techniques, including ultrasound, voiding cystourethrogram (VCUG), and radionuclide scan, can be used in infants and children to determine the cause of urine blockage. - Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. Treatments for more serious conditions include - surgery - antibiotics - intermittent catheterization",NIDDK,Urine Blockage in Newborns +What is (are) What I need to know about Bladder Control for Women ?,"Not all bladder control problems are alike. Some problems are caused by weak muscles, while others are caused by damaged nerves. Sometimes the cause may be a medicine that dulls the nerves. + +To help solve your problem, your doctor or nurse will try to identify the type of incontinence you have. It may be one or more of the following six types.",NIDDK,What I need to know about Bladder Control for Women +What causes What I need to know about Bladder Control for Women ?,Urine leakage has many possible causes.,NIDDK,What I need to know about Bladder Control for Women +What is (are) What I need to know about Bladder Control for Women ?,"Talking about bladder control problems is not easy for some people. You may feel embarrassed to tell your doctor. But talking about the problem is the first step in finding an answer. Also, you can be sure your doctor has heard it all before. You will not shock or embarrass your doctor or nurse. + + + +Medical History + +You can prepare for your visit to the doctor's office by gathering the information your doctor will need to understand your problem. Make a list of the medicines you are taking. Include prescription medicines and those you buy over the counter, like aspirin or antacid. List the fluids you drink regularly, including sodas, coffee, tea, and alcohol. Tell the doctor how much of each drink you have in an average day. + +Finding a Doctor + +You will need to find a doctor who is skilled in helping women with urine leakage. If your primary doctor shrugs off your problem as normal aging, for example, ask for a referral to a specialist-a urogynecologist or a urologist who specializes in treating female urinary problems. You may need to be persistent, or you may need to look to organizations to help locate a doctor in your area. See For More Information for a list of organizations. + +Make a note of any recent surgeries or illnesses you have had. Let the doctor know how many children you have had. These events may or may not be related to your bladder control problem. + +Finally, keep track of the times when you have urine leakage. Note what you were doing at the time. Were you coughing, laughing, sneezing, or exercising? Did you have an uncontrollable urge to urinate when you heard running water? + +You can use What Your Doctor Needs to Know (Item A) and Your Daily Bladder Diary (Item B) to prepare for your appointment. + +Physical Exam + +The doctor will give you a physical exam to look for any health issues that may be causing your bladder control problem. Checking your reflexes can show possible nerve damage. You will give a urine sample so the doctor can check for a urinary tract infection. For women, the exam may include a pelvic exam. Tests may also include taking an ultrasound picture of your bladder. Or the doctor may examine the inside of your bladder using a cystoscope, a long, thin tube that slides up into the bladder through the urethra. + +Bladder Function Tests + +Any medical test can be uncomfortable. Bladder testing may sound embarrassing, but the health professionals who perform the tests will try to make you feel comfortable and give you as much privacy as possible.",NIDDK,What I need to know about Bladder Control for Women +What are the treatments for What I need to know about Bladder Control for Women ?,"Your doctor will likely offer several treatment choices. Some treatments are as simple as changing some daily habits. Other treatments require taking medicine or using a device. If nothing else seems to work, surgery may help a woman with stress incontinence regain her bladder control. + +Talk with your doctor about which treatments might work best for you. + +Pelvic Muscle Strengthening + +Many women prefer to try the simplest treatment choices first. Kegel exercises strengthen the pelvic muscles and don't require any equipment. Once you learn how to ""Kegel,"" you can Kegel anywhere. The trick is finding the right muscles to squeeze. Your doctor or nurse can help make sure you are squeezing the right muscles. Your doctor may refer you to a specially trained physical therapist who will teach you to find and strengthen the sphincter muscles. Learning when to squeeze these muscles can also help stop the bladder spasms that cause urge incontinence. After about 6 to 8 weeks, you should notice that you have fewer leaks and more bladder control. Use the pelvic muscle exercise log included with the Kegel Exercise Tips sheet (Item C) to keep track of your progress. + +Changing Habits + +Timed voiding. By keeping track of the times you leak urine, you may notice certain times of day when you are most likely to have an accident. You can use that information to make planned trips to the bathroom ahead of time to avoid the accident. Once you have established a safe pattern, you can build your bladder control by stretching out the time between trips to the bathroom. By forcing your pelvic muscles to hold on longer, you make those muscles stronger. + +Diet changes. You may notice that certain foods and drinks cause you to urinate more often. You may find that avoiding caffeinated drinks like coffee, tea, or cola helps your bladder control. You can choose the decaf version of your favorite drink. Make sure you are not drinking too much fluid because that will cause you to make a large amount of urine. If you are bothered by nighttime urination, drink most of your fluids during the day and limit your drinking after dinner. You should not, however, avoid drinking fluids for fear of having an accident. Some foods may irritate your bladder and cause urgency. Talk with your doctor about diet changes that might affect your bladder. + +Weight loss. Extra body weight puts extra pressure on your bladder. By losing weight, you may be able to relieve some of that pressure and regain your bladder control. + +Medicines + +No medications are approved to treat stress urinary incontinence. But if you have an overactive bladder, your doctor may prescribe a medicine that can calm muscles and nerves. Medicines for overactive bladder come as pills, liquid, or a patch. + +Medicines to treat overactive bladder can cause your eyes to become dry. These medicines can also cause dry mouth and constipation. If you take medicine to treat an overactive bladder, you may need to take steps to deal with the side effects. + +- Use eye drops to keep your eyes moist. - Chew gum or suck on hard candy if dry mouth bothers you. Make it sugarless gum or candy to avoid tooth decay. - Take small sips of water throughout the day. + +Medicines for other conditions also can affect the nerves and muscles of the urinary tract in different ways. Pills to treat swelling-edema-or high blood pressure may increase urine output and contribute to bladder control problems. + +Talk with your doctor; you may find that taking a different medicine solves the problem without adding another prescription. The list of Medicines for Bladder Control (Item D) will give you more information about specific medicines. + +Pessaries + +A pessary is a plastic ring, similar to a contraceptive diaphragm, that is worn in the vagina. It will help support the walls of the vagina, lifting the bladder and nearby urethra, leading to less stress leakage. A doctor or nurse can fit you with the best shape and size pessary for you and teach you how to care for it. Many women use a pessary only during exercise while others wear their pessary all day to reduce stress leakage. If you use a pessary, you should see your doctor regularly to check for small scrapes in the vagina that can result from using the device. + +Nerve Stimulation + +Electrical stimulation of the nerves that control the bladder can improve symptoms of urgency, frequency, and urge incontinence, as well as bladder emptying problems, in some people. This treatment is usually offered to patients who cannot tolerate or do not benefit from medications. At first, your doctor will use a device outside your body to deliver stimulation through a wire implanted under your skin to see if the treatment relieves your symptoms. If the temporary treatment works well for you, you may be able to have a permanent device implanted that delivers stimulation to the nerves in your back, much like a pacemaker. The electrodes in the permanent device are placed in your lower back through a minor surgical procedure. You may need to return to the doctor for adjustments to find the right setting that controls your bladder symptoms. + +Surgery + +Doctors may suggest surgery to improve bladder control if other treatments have failed. Surgery helps only stress incontinence. It won't work for urge incontinence. Many surgical options have high rates of success. + +Most stress incontinence problems are caused by the bladder neck dropping toward the vagina. To correct this problem, the surgeon raises the bladder neck or urethra and supports it with a ribbon-like sling or web of strings attached to a muscle or bone. The sling holds up the bottom of the bladder and the top of the urethra to stop leakage. + +Catheterization + +If your bladder does not empty well as a result of nerve damage, you might leak urine. This condition is called overflow incontinence. You might use a catheter to empty your bladder. A catheter is a thin tube you can learn to insert through the urethra into the bladder to drain urine. You may use a catheter once in a while, a few times a day, or all of the time. If you use the catheter all the time, it will drain urine from your bladder into a bag you can hang from your leg. If you use a catheter all the time, you should watch for possible infections.",NIDDK,What I need to know about Bladder Control for Women +What is (are) Glomerular Diseases ?,"The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. + +Blood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters. + +Each glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream.",NIDDK,Glomerular Diseases +What is (are) Glomerular Diseases ?,"The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. + +Blood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters. + +Each glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream.",NIDDK,Glomerular Diseases +What are the symptoms of Glomerular Diseases ?,"The signs and symptoms of glomerular disease include + +- albuminuria: large amounts of protein in the urine - hematuria: blood in the urine - reduced glomerular filtration rate: inefficient filtering of wastes from the blood - hypoproteinemia: low blood protein - edema: swelling in parts of the body + +One or more of these symptoms can be the first sign of kidney disease. But how would you know, for example, whether you have proteinuria? Before seeing a doctor, you may not. But some of these symptoms have signs, or visible manifestations: + +- Proteinuria may cause foamy urine. - Blood may cause the urine to be pink or cola-colored. - Edema may be obvious in hands and ankles, especially at the end of the day, or around the eyes when awakening in the morning, for example.",NIDDK,Glomerular Diseases +How to diagnose Glomerular Diseases ?,"Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as ""nephrotic range"" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. Urinalysis provides information about kidney damage by indicating levels of protein and red blood cells in the urine. Blood tests measure the levels of waste products such as creatinine and urea nitrogen to determine whether the filtering capacity of the kidneys is impaired. If these lab tests indicate kidney damage, the doctor may recommend ultrasound or an x ray to see whether the shape or size of the kidneys is abnormal. These tests are called renal imaging. But since glomerular disease causes problems at the cellular level, the doctor will probably also recommend a kidney biopsya procedure in which a needle is used to extract small pieces of tissue for examination with different types of microscopes, each of which shows a different aspect of the tissue. A biopsy may be helpful in confirming glomerular disease and identifying the cause.",NIDDK,Glomerular Diseases +How to diagnose Glomerular Diseases ?,"Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as ""nephrotic range"" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. Urinalysis provides information about kidney damage by indicating levels of protein and red blood cells in the urine. Blood tests measure the levels of waste products such as creatinine and urea nitrogen to determine whether the filtering capacity of the kidneys is impaired. If these lab tests indicate kidney damage, the doctor may recommend ultrasound or an x ray to see whether the shape or size of the kidneys is abnormal. These tests are called renal imaging. But since glomerular disease causes problems at the cellular level, the doctor will probably also recommend a kidney biopsya procedure in which a needle is used to extract small pieces of tissue for examination with different types of microscopes, each of which shows a different aspect of the tissue. A biopsy may be helpful in confirming glomerular disease and identifying the cause.",NIDDK,Glomerular Diseases +What causes Glomerular Diseases ?,"A number of different diseases can result in glomerular disease. It may be the direct result of an infection or a drug toxic to the kidneys, or it may result from a disease that affects the entire body, like diabetes or lupus. Many different kinds of diseases can cause swelling or scarring of the nephron or glomerulus. Sometimes glomerular disease is idiopathic, meaning that it occurs without an apparent associated disease. + +The categories presented below can overlap: that is, a disease might belong to two or more of the categories. For example, diabetic nephropathy is a form of glomerular disease that can be placed in two categories: systemic diseases, since diabetes itself is a systemic disease, and sclerotic diseases, because the specific damage done to the kidneys is associated with scarring. + +Autoimmune Diseases + +When the body's immune system functions properly, it creates protein-like substances called antibodies and immunoglobulins to protect the body against invading organisms. In an autoimmune disease, the immune system creates autoantibodies, which are antibodies or immunoglobulins that attack the body itself. Autoimmune diseases may be systemic and affect many parts of the body, or they may affect only specific organs or regions. + +Systemic lupus erythematosus (SLE) affects many parts of the body: primarily the skin and joints, but also the kidneys. Because women are more likely to develop SLE than men, some researchers believe that a sex-linked genetic factor may play a part in making a person susceptible, although viral infection has also been implicated as a triggering factor. Lupus nephritis is the name given to the kidney disease caused by SLE, and it occurs when autoantibodies form or are deposited in the glomeruli, causing inflammation. Ultimately, the inflammation may create scars that keep the kidneys from functioning properly. Conventional treatment for lupus nephritis includes a combination of two drugs, cyclophosphamide, a cytotoxic agent that suppresses the immune system, and prednisolone, a corticosteroid used to reduce inflammation. A newer immunosuppressant, mychophenolate mofetil (MMF), has been used instead of cyclophosphamide. Preliminary studies indicate that MMF may be as effective as cyclophosphamide and has milder side effects. + +Goodpasture's Syndrome involves an autoantibody that specifically targets the kidneys and the lungs. Often, the first indication that patients have the autoantibody is when they cough up blood. But lung damage in Goodpasture's Syndrome is usually superficial compared with progressive and permanent damage to the kidneys. Goodpasture's Syndrome is a rare condition that affects mostly young men but also occurs in women, children, and older adults. Treatments include immunosuppressive drugs and a blood-cleaning therapy called plasmapheresis that removes the autoantibodies. + +IgA nephropathy is a form of glomerular disease that results when immunoglobulin A (IgA) forms deposits in the glomeruli, where it creates inflammation. IgA nephropathy was not recognized as a cause of glomerular disease until the late 1960s, when sophisticated biopsy techniques were developed that could identify IgA deposits in kidney tissue. + +The most common symptom of IgA nephropathy is blood in the urine, but it is often a silent disease that may go undetected for many years. The silent nature of the disease makes it difficult to determine how many people are in the early stages of IgA nephropathy, when specific medical tests are the only way to detect it. This disease is estimated to be the most common cause of primary glomerulonephritisthat is, glomerular disease not caused by a systemic disease like lupus or diabetes mellitus. It appears to affect men more than women. Although IgA nephropathy is found in all age groups, young people rarely display signs of kidney failure because the disease usually takes several years to progress to the stage where it causes detectable complications. + +No treatment is recommended for early or mild cases of IgA nephropathy when the patient has normal blood pressure and less than 1 gram of protein in a 24-hour urine output. When proteinuria exceeds 1 gram/day, treatment is aimed at protecting kidney function by reducing proteinuria and controlling blood pressure. Blood pressure medicinesangiotensinconverting enzyme inhibitors (ACE inhibitors) or angiotensin receptor blockers (ARBs)that block a hormone called angiotensin are most effective at achieving those two goals simultaneously. + + + +Hereditary NephritisAlport Syndrome + +The primary indicator of Alport syndrome is a family history of chronic glomerular disease, although it may also involve hearing or vision impairment. This syndrome affects both men and women, but men are more likely to experience chronic kidney disease and sensory loss. Men with Alport syndrome usually first show evidence of renal insufficiency while in their twenties and reach total kidney failure by age 40. Women rarely have significant renal impairment, and hearing loss may be so slight that it can be detected only through testing with special equipment. Usually men can pass the disease only to their daughters. Women can transmit the disease to either their sons or their daughters. Treatment focuses on controlling blood pressure to maintain kidney function. + +Infection-related Glomerular Disease + +Glomerular disease sometimes develops rapidly after an infection in other parts of the body. Acute post-streptococcal glomerulonephritis (PSGN) can occur after an episode of strep throat or, in rare cases, impetigo (a skin infection). The Streptococcus bacteria do not attack the kidney directly, but an infection may stimulate the immune system to overproduce antibodies, which are circulated in the blood and finally deposited in the glomeruli, causing damage. PSGN can bring on sudden symptoms of swelling (edema), reduced urine output (oliguria), and blood in the urine (hematuria). Tests will show large amounts of protein in the urine and elevated levels of creatinine and urea nitrogen in the blood, thus indicating reduced kidney function. High blood pressure frequently accompanies reduced kidney function in this disease. + +PSGN is most common in children between the ages of 3 and 7, although it can strike at any age, and it most often affects boys. It lasts only a brief time and usually allows the kidneys to recover. In a few cases, however, kidney damage may be permanent, requiring dialysis or transplantation to replace renal function. + +Bacterial endocarditis, infection of the tissues inside the heart, is also associated with subsequent glomerular disease. Researchers are not sure whether the renal lesions that form after a heart infection are caused entirely by the immune response or whether some other disease mechanism contributes to kidney damage. Treating the heart infection is the most effective way of minimizing kidney damage. Endocarditis sometimes produces chronic kidney disease (CKD). + +HIV, the virus that leads to AIDS, can also cause glomerular disease. Between 5 and 10 percent of people with HIV experience kidney failure, even before developing full-blown AIDS. HIV-associated nephropathy usually begins with heavy proteinuria and progresses rapidly (within a year of detection) to total kidney failure. Researchers are looking for therapies that can slow down or reverse this rapid deterioration of renal function, but some possible solutions involving immunosuppression are risky because of the patients' already compromised immune system. + +Sclerotic Diseases + +Glomerulosclerosis is scarring (sclerosis) of the glomeruli. In several sclerotic conditions, a systemic disease like lupus or diabetes is responsible. Glomerulosclerosis is caused by the activation of glomerular cells to produce scar material. This may be stimulated by molecules called growth factors, which may be made by glomerular cells themselves or may be brought to the glomerulus by the circulating blood that enters the glomerular filter. + +Diabetic nephropathy is the leading cause of glomerular disease and of total kidney failure in the United States. Kidney disease is one of several problems caused by elevated levels of blood glucose, the central feature of diabetes. In addition to scarring the kidney, elevated glucose levels appear to increase the speed of blood flow into the kidney, putting a strain on the filtering glomeruli and raising blood pressure. + +Diabetic nephropathy usually takes many years to develop. People with diabetes can slow down damage to their kidneys by controlling their blood glucose through healthy eating with moderate protein intake, physical activity, and medications. People with diabetes should also be careful to keep their blood pressure at a level below 140/90 mm Hg, if possible. Blood pressure medications called ACE inhibitors and ARBs are particularly effective at minimizing kidney damage and are now frequently prescribed to control blood pressure in patients with diabetes and in patients with many forms of kidney disease. + +Focal segmental glomerulosclerosis (FSGS) describes scarring in scattered regions of the kidney, typically limited to one part of the glomerulus and to a minority of glomeruli in the affected region. FSGS may result from a systemic disorder or it may develop as an idiopathic kidney disease, without a known cause. Proteinuria is the most common symptom of FSGS, but, since proteinuria is associated with several other kidney conditions, the doctor cannot diagnose FSGS on the basis of proteinuria alone. Biopsy may confirm the presence of glomerular scarring if the tissue is taken from the affected section of the kidney. But finding the affected section is a matter of chance, especially early in the disease process, when lesions may be scattered. + +Confirming a diagnosis of FSGS may require repeat kidney biopsies. Arriving at a diagnosis of idiopathic FSGS requires the identification of focal scarring and the elimination of possible systemic causes such as diabetes or an immune response to infection. Since idiopathic FSGS is, by definition, of unknown cause, it is difficult to treat. No universal remedy has been found, and most patients with FSGS progress to total kidney failure over 5 to 20 years. Some patients with an aggressive form of FSGS reach total kidney failure in 2 to 3 years. Treatments involving steroids or other immunosuppressive drugs appear to help some patients by decreasing proteinuria and improving kidney function. But these treatments are beneficial to only a minority of those in whom they are tried, and some patients experience even poorer kidney function as a result. ACE inhibitors and ARBs may also be used in FSGS to decrease proteinuria. Treatment should focus on controlling blood pressure and blood cholesterol levels, factors that may contribute to kidney scarring. + +Other Glomerular Diseases + +Membranous nephropathy, also called membranous glomerulopathy, is the second most common cause of the nephrotic syndrome (proteinuria, edema, high cholesterol) in U.S. adults after diabetic nephropathy. Diagnosis of membranous nephropathy requires a kidney biopsy, which reveals unusual deposits of immunoglobulin G and complement C3, substances created by the body's immune system. Fully 75 percent of cases are idiopathic, which means that the cause of the disease is unknown. The remaining 25 percent of cases are the result of other diseases like systemic lupus erythematosus, hepatitis B or C infection, or some forms of cancer. Drug therapies involving penicillamine, gold, or captopril have also been associated with membranous nephropathy. About 20 to 40 percent of patients with membranous nephropathy progress, usually over decades, to total kidney failure, but most patients experience either complete remission or continued symptoms without progressive kidney failure. Doctors disagree about how aggressively to treat this condition, since about 20 percent of patients recover without treatment. ACE inhibitors and ARBs are generally used to reduce proteinuria. Additional medication to control high blood pressure and edema is frequently required. Some patients benefit from steroids, but this treatment does not work for everyone. Additional immunosuppressive medications are helpful for some patients with progressive disease. + +Minimal change disease (MCD) is the diagnosis given when a patient has the nephrotic syndrome and the kidney biopsy reveals little or no change to the structure of glomeruli or surrounding tissues when examined by a light microscope. Tiny drops of a fatty substance called a lipid may be present, but no scarring has taken place within the kidney. MCD may occur at any age, but it is most common in childhood. A small percentage of patients with idiopathic nephrotic syndrome do not respond to steroid therapy. For these patients, the doctor may recommend a low-sodium diet and prescribe a diuretic to control edema. The doctor may recommend the use of nonsteroidal anti-inflammatory drugs to reduce proteinuria. ACE inhibitors and ARBs have also been used to reduce proteinuria in patients with steroid-resistant MCD. These patients may respond to larger doses of steroids, more prolonged use of steroids, or steroids in combination with immunosuppressant drugs, such as chlorambucil, cyclophosphamide, or cyclosporine.",NIDDK,Glomerular Diseases +What causes Glomerular Diseases ?,"A number of different diseases can result in glomerular disease. It may be the direct result of an infection or a drug toxic to the kidneys, or it may result from a disease that affects the entire body, like diabetes or lupus. Many different kinds of diseases can cause swelling or scarring of the nephron or glomerulus. Sometimes glomerular disease is idiopathic, meaning that it occurs without an apparent associated disease. + +The categories presented below can overlap: that is, a disease might belong to two or more of the categories. For example, diabetic nephropathy is a form of glomerular disease that can be placed in two categories: systemic diseases, since diabetes itself is a systemic disease, and sclerotic diseases, because the specific damage done to the kidneys is associated with scarring. + +Autoimmune Diseases + +When the body's immune system functions properly, it creates protein-like substances called antibodies and immunoglobulins to protect the body against invading organisms. In an autoimmune disease, the immune system creates autoantibodies, which are antibodies or immunoglobulins that attack the body itself. Autoimmune diseases may be systemic and affect many parts of the body, or they may affect only specific organs or regions. + +Systemic lupus erythematosus (SLE) affects many parts of the body: primarily the skin and joints, but also the kidneys. Because women are more likely to develop SLE than men, some researchers believe that a sex-linked genetic factor may play a part in making a person susceptible, although viral infection has also been implicated as a triggering factor. Lupus nephritis is the name given to the kidney disease caused by SLE, and it occurs when autoantibodies form or are deposited in the glomeruli, causing inflammation. Ultimately, the inflammation may create scars that keep the kidneys from functioning properly. Conventional treatment for lupus nephritis includes a combination of two drugs, cyclophosphamide, a cytotoxic agent that suppresses the immune system, and prednisolone, a corticosteroid used to reduce inflammation. A newer immunosuppressant, mychophenolate mofetil (MMF), has been used instead of cyclophosphamide. Preliminary studies indicate that MMF may be as effective as cyclophosphamide and has milder side effects. + +Goodpasture's Syndrome involves an autoantibody that specifically targets the kidneys and the lungs. Often, the first indication that patients have the autoantibody is when they cough up blood. But lung damage in Goodpasture's Syndrome is usually superficial compared with progressive and permanent damage to the kidneys. Goodpasture's Syndrome is a rare condition that affects mostly young men but also occurs in women, children, and older adults. Treatments include immunosuppressive drugs and a blood-cleaning therapy called plasmapheresis that removes the autoantibodies. + +IgA nephropathy is a form of glomerular disease that results when immunoglobulin A (IgA) forms deposits in the glomeruli, where it creates inflammation. IgA nephropathy was not recognized as a cause of glomerular disease until the late 1960s, when sophisticated biopsy techniques were developed that could identify IgA deposits in kidney tissue. + +The most common symptom of IgA nephropathy is blood in the urine, but it is often a silent disease that may go undetected for many years. The silent nature of the disease makes it difficult to determine how many people are in the early stages of IgA nephropathy, when specific medical tests are the only way to detect it. This disease is estimated to be the most common cause of primary glomerulonephritisthat is, glomerular disease not caused by a systemic disease like lupus or diabetes mellitus. It appears to affect men more than women. Although IgA nephropathy is found in all age groups, young people rarely display signs of kidney failure because the disease usually takes several years to progress to the stage where it causes detectable complications. + +No treatment is recommended for early or mild cases of IgA nephropathy when the patient has normal blood pressure and less than 1 gram of protein in a 24-hour urine output. When proteinuria exceeds 1 gram/day, treatment is aimed at protecting kidney function by reducing proteinuria and controlling blood pressure. Blood pressure medicinesangiotensinconverting enzyme inhibitors (ACE inhibitors) or angiotensin receptor blockers (ARBs)that block a hormone called angiotensin are most effective at achieving those two goals simultaneously. + + + +Hereditary NephritisAlport Syndrome + +The primary indicator of Alport syndrome is a family history of chronic glomerular disease, although it may also involve hearing or vision impairment. This syndrome affects both men and women, but men are more likely to experience chronic kidney disease and sensory loss. Men with Alport syndrome usually first show evidence of renal insufficiency while in their twenties and reach total kidney failure by age 40. Women rarely have significant renal impairment, and hearing loss may be so slight that it can be detected only through testing with special equipment. Usually men can pass the disease only to their daughters. Women can transmit the disease to either their sons or their daughters. Treatment focuses on controlling blood pressure to maintain kidney function. + +Infection-related Glomerular Disease + +Glomerular disease sometimes develops rapidly after an infection in other parts of the body. Acute post-streptococcal glomerulonephritis (PSGN) can occur after an episode of strep throat or, in rare cases, impetigo (a skin infection). The Streptococcus bacteria do not attack the kidney directly, but an infection may stimulate the immune system to overproduce antibodies, which are circulated in the blood and finally deposited in the glomeruli, causing damage. PSGN can bring on sudden symptoms of swelling (edema), reduced urine output (oliguria), and blood in the urine (hematuria). Tests will show large amounts of protein in the urine and elevated levels of creatinine and urea nitrogen in the blood, thus indicating reduced kidney function. High blood pressure frequently accompanies reduced kidney function in this disease. + +PSGN is most common in children between the ages of 3 and 7, although it can strike at any age, and it most often affects boys. It lasts only a brief time and usually allows the kidneys to recover. In a few cases, however, kidney damage may be permanent, requiring dialysis or transplantation to replace renal function. + +Bacterial endocarditis, infection of the tissues inside the heart, is also associated with subsequent glomerular disease. Researchers are not sure whether the renal lesions that form after a heart infection are caused entirely by the immune response or whether some other disease mechanism contributes to kidney damage. Treating the heart infection is the most effective way of minimizing kidney damage. Endocarditis sometimes produces chronic kidney disease (CKD). + +HIV, the virus that leads to AIDS, can also cause glomerular disease. Between 5 and 10 percent of people with HIV experience kidney failure, even before developing full-blown AIDS. HIV-associated nephropathy usually begins with heavy proteinuria and progresses rapidly (within a year of detection) to total kidney failure. Researchers are looking for therapies that can slow down or reverse this rapid deterioration of renal function, but some possible solutions involving immunosuppression are risky because of the patients' already compromised immune system. + +Sclerotic Diseases + +Glomerulosclerosis is scarring (sclerosis) of the glomeruli. In several sclerotic conditions, a systemic disease like lupus or diabetes is responsible. Glomerulosclerosis is caused by the activation of glomerular cells to produce scar material. This may be stimulated by molecules called growth factors, which may be made by glomerular cells themselves or may be brought to the glomerulus by the circulating blood that enters the glomerular filter. + +Diabetic nephropathy is the leading cause of glomerular disease and of total kidney failure in the United States. Kidney disease is one of several problems caused by elevated levels of blood glucose, the central feature of diabetes. In addition to scarring the kidney, elevated glucose levels appear to increase the speed of blood flow into the kidney, putting a strain on the filtering glomeruli and raising blood pressure. + +Diabetic nephropathy usually takes many years to develop. People with diabetes can slow down damage to their kidneys by controlling their blood glucose through healthy eating with moderate protein intake, physical activity, and medications. People with diabetes should also be careful to keep their blood pressure at a level below 140/90 mm Hg, if possible. Blood pressure medications called ACE inhibitors and ARBs are particularly effective at minimizing kidney damage and are now frequently prescribed to control blood pressure in patients with diabetes and in patients with many forms of kidney disease. + +Focal segmental glomerulosclerosis (FSGS) describes scarring in scattered regions of the kidney, typically limited to one part of the glomerulus and to a minority of glomeruli in the affected region. FSGS may result from a systemic disorder or it may develop as an idiopathic kidney disease, without a known cause. Proteinuria is the most common symptom of FSGS, but, since proteinuria is associated with several other kidney conditions, the doctor cannot diagnose FSGS on the basis of proteinuria alone. Biopsy may confirm the presence of glomerular scarring if the tissue is taken from the affected section of the kidney. But finding the affected section is a matter of chance, especially early in the disease process, when lesions may be scattered. + +Confirming a diagnosis of FSGS may require repeat kidney biopsies. Arriving at a diagnosis of idiopathic FSGS requires the identification of focal scarring and the elimination of possible systemic causes such as diabetes or an immune response to infection. Since idiopathic FSGS is, by definition, of unknown cause, it is difficult to treat. No universal remedy has been found, and most patients with FSGS progress to total kidney failure over 5 to 20 years. Some patients with an aggressive form of FSGS reach total kidney failure in 2 to 3 years. Treatments involving steroids or other immunosuppressive drugs appear to help some patients by decreasing proteinuria and improving kidney function. But these treatments are beneficial to only a minority of those in whom they are tried, and some patients experience even poorer kidney function as a result. ACE inhibitors and ARBs may also be used in FSGS to decrease proteinuria. Treatment should focus on controlling blood pressure and blood cholesterol levels, factors that may contribute to kidney scarring. + +Other Glomerular Diseases + +Membranous nephropathy, also called membranous glomerulopathy, is the second most common cause of the nephrotic syndrome (proteinuria, edema, high cholesterol) in U.S. adults after diabetic nephropathy. Diagnosis of membranous nephropathy requires a kidney biopsy, which reveals unusual deposits of immunoglobulin G and complement C3, substances created by the body's immune system. Fully 75 percent of cases are idiopathic, which means that the cause of the disease is unknown. The remaining 25 percent of cases are the result of other diseases like systemic lupus erythematosus, hepatitis B or C infection, or some forms of cancer. Drug therapies involving penicillamine, gold, or captopril have also been associated with membranous nephropathy. About 20 to 40 percent of patients with membranous nephropathy progress, usually over decades, to total kidney failure, but most patients experience either complete remission or continued symptoms without progressive kidney failure. Doctors disagree about how aggressively to treat this condition, since about 20 percent of patients recover without treatment. ACE inhibitors and ARBs are generally used to reduce proteinuria. Additional medication to control high blood pressure and edema is frequently required. Some patients benefit from steroids, but this treatment does not work for everyone. Additional immunosuppressive medications are helpful for some patients with progressive disease. + +Minimal change disease (MCD) is the diagnosis given when a patient has the nephrotic syndrome and the kidney biopsy reveals little or no change to the structure of glomeruli or surrounding tissues when examined by a light microscope. Tiny drops of a fatty substance called a lipid may be present, but no scarring has taken place within the kidney. MCD may occur at any age, but it is most common in childhood. A small percentage of patients with idiopathic nephrotic syndrome do not respond to steroid therapy. For these patients, the doctor may recommend a low-sodium diet and prescribe a diuretic to control edema. The doctor may recommend the use of nonsteroidal anti-inflammatory drugs to reduce proteinuria. ACE inhibitors and ARBs have also been used to reduce proteinuria in patients with steroid-resistant MCD. These patients may respond to larger doses of steroids, more prolonged use of steroids, or steroids in combination with immunosuppressant drugs, such as chlorambucil, cyclophosphamide, or cyclosporine.",NIDDK,Glomerular Diseases +What is (are) Glomerular Diseases ?,"Renal failure is any acute or chronic loss of kidney function and is the term used when some kidney function remains. Total kidney failure, sometimes called end-stage renal disease (ESRD), indicates permanent loss of kidney function. Depending on the form of glomerular disease, renal function may be lost in a matter of days or weeks or may deteriorate slowly and gradually over the course of decades. + +Acute Renal Failure + +A few forms of glomerular disease cause very rapid deterioration of kidney function. For example, PSGN can cause severe symptoms (hematuria, proteinuria, edema) within 2 to 3 weeks after a sore throat or skin infection develops. The patient may temporarily require dialysis to replace renal function. This rapid loss of kidney function is called acute renal failure (ARF). Although ARF can be life-threatening while it lasts, kidney function usually returns after the cause of the kidney failure has been treated. In many patients, ARF is not associated with any permanent damage. However, some patients may recover from ARF and subsequently develop CKD. + +Chronic Kidney Disease + +Most forms of glomerular disease develop gradually, often causing no symptoms for many years. CKD is the slow, gradual loss of kidney function. Some forms of CKD can be controlled or slowed down. For example, diabetic nephropathy can be delayed by tightly controlling blood glucose levels and using ACE inhibitors and ARBs to reduce proteinuria and control blood pressure. But CKD cannot be cured. Partial loss of renal function means that some portion of the patient's nephrons have been scarred, and scarred nephrons cannot be repaired. In many cases, CKD leads to total kidney failure. + +Total Kidney Failure + +To stay alive, a patient with total kidney failure must go on dialysishemodialysis or peritoneal dialysisor receive a new kidney through transplantation. Patients with CKD who are approaching total kidney failure should learn as much about their treatment options as possible so they can make an informed decision when the time comes. With the help of dialysis or transplantation, many people continue to lead full, productive lives after reaching total kidney failure.",NIDDK,Glomerular Diseases +What to do for Glomerular Diseases ?,"- The kidneys filter waste and extra fluid from the blood. - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules. - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. Glomerulonephritis and glomerulosclerosis are broad terms that include many forms of damage to the glomeruli. - Some forms of kidney failure can be slowed down, but scarred glomeruli can never be repaired. - Treatment for the early stages of kidney failure depends on the disease causing the damage. - Early signs of kidney failure include blood or protein in the urine and swelling in the hands, feet, abdomen, or face. Kidney failure may be silent for many years. + +The Nephrotic Syndrome + +- The nephrotic syndrome is a condition marked by very high levels of protein in the urine; low levels of protein in the blood; swelling, especially around the eyes, feet, and hands; and high cholesterol. - The nephrotic syndrome is a set of symptoms, not a disease in itself. It can occur with many diseases, so prevention relies on controlling the diseases that cause it. - Treatment of the nephrotic syndrome focuses on identifying and treating the underlying cause, if possible, and reducing high cholesterol, blood pressure, and protein in the urine through diet, medication, or both. - The nephrotic syndrome may go away once the underlying cause, if known, is treated. However, often a kidney disease is the underlying cause and cannot be cured. In these cases, the kidneys may gradually lose their ability to filter wastes and excess water from the blood. If kidney failure occurs, the patient will need to be on dialysis or have a kidney transplant.",NIDDK,Glomerular Diseases +What to do for Glomerular Diseases ?,"- The kidneys filter waste and extra fluid from the blood. - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules. - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. Glomerulonephritis and glomerulosclerosis are broad terms that include many forms of damage to the glomeruli. - Some forms of kidney failure can be slowed down, but scarred glomeruli can never be repaired. - Treatment for the early stages of kidney failure depends on the disease causing the damage. - Early signs of kidney failure include blood or protein in the urine and swelling in the hands, feet, abdomen, or face. Kidney failure may be silent for many years. + +The Nephrotic Syndrome + +- The nephrotic syndrome is a condition marked by very high levels of protein in the urine; low levels of protein in the blood; swelling, especially around the eyes, feet, and hands; and high cholesterol. - The nephrotic syndrome is a set of symptoms, not a disease in itself. It can occur with many diseases, so prevention relies on controlling the diseases that cause it. - Treatment of the nephrotic syndrome focuses on identifying and treating the underlying cause, if possible, and reducing high cholesterol, blood pressure, and protein in the urine through diet, medication, or both. - The nephrotic syndrome may go away once the underlying cause, if known, is treated. However, often a kidney disease is the underlying cause and cannot be cured. In these cases, the kidneys may gradually lose their ability to filter wastes and excess water from the blood. If kidney failure occurs, the patient will need to be on dialysis or have a kidney transplant.",NIDDK,Glomerular Diseases +What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 95 percent of people with diabetes have type 2. People can develop type 2 diabetes at any age, even during childhood. However, this type of diabetes develops most often in middle-aged and older people. People who are overweight and inactive are also more likely to develop type 2 diabetes. + +In type 2 and other types of diabetes, you have too much glucose, also called sugar, in your blood. People with diabetes have problems converting food to energy. After a meal, food is broken down into glucose, which is carried by your blood to cells throughout your body. With the help of the hormone insulin, cells absorb glucose from your blood and use it for energy. Insulin is made in the pancreas, an organ located behind the stomach. + +Type 2 diabetes usually begins with insulin resistance, a condition linked to excess weight in which your bodys cells do not use insulin properly. As a result, your body needs more insulin to help glucose enter cells. At first, your pancreas keeps up with the added demand by producing more insulin. But in time, your pancreas loses its ability to produce enough insulin, and blood glucose levels rise. + +Over time, high blood glucose damages nerves and blood vessels, leading to problems such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other problems of diabetes may include increased risk of getting other diseases, loss of mobility with aging, depression, and pregnancy problems. + +Treatment includes taking diabetes medicines, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and for some, taking aspirin daily.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +How to prevent Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"Yes. The results of the Diabetes Prevention Program (DPP) proved that weight loss through moderate diet changes and physical activity can delay or prevent type 2 diabetes. The DPP was a federally funded study of 3,234 people at high risk for diabetes. This study showed that a 5-to 7-percent weight loss, which for a 200-pound person would be 10 to 14 pounds, slowed development of type 2 diabetes. + +People at High Risk for Diabetes + +DPP study participants were overweight and had higher than normal levels of blood glucose, a condition called prediabetes. Many had family members with type 2 diabetes. Prediabetes, obesity, and a family history of diabetes are strong risk factors for type 2 diabetes. About half of the DPP participants were from minority groups with high rates of diabetes, including African Americans, Alaska Natives, American Indians, Asian Americans, Hispanics/Latinos, and Pacific Islander Americans. + +DPP participants also included others at high risk for developing type 2 diabetes, such as women with a history of gestational diabetes and people age 60 and older. + +Approaches to Preventing Diabetes + +The DPP tested three approaches to preventing diabetes: + +- Making lifestyle changes. People in the lifestyle change group exercised, usually by walking 5 days a week for about 30 minutes a day, and lowered their intake of fat and calories. - Taking the diabetes medicine metformin. Those who took metformin also received information about physical activity and diet. - Receiving education about diabetes. The third group only received information about physical activity and diet and took a placeboa pill without medicine in it. + +People in the lifestyle change group showed the best outcomes. But people who took metformin also benefited. The results showed that by losing an average of 15 pounds in the first year of the study, people in the lifestyle change group reduced their risk of developing type 2 diabetes by 58 percent over 3 years. Lifestyle change was even more effective in those age 60 and older. People in this group reduced their risk by 71 percent. But people in the metformin group also benefited, reducing their risk by 31 percent. More information about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, is available at www.bsc.gwu.edu/dpp. + +Lasting Results + +The Diabetes Prevention Program Outcomes Study (DPPOS) has shown that the benefits of weight loss and metformin last for at least 10 years. The DPPOS has continued to follow most DPP participants since the DPP ended in 2001. The DPPOS showed that 10 years after enrolling in the DPP, + +- people in the lifestyle change group reduced their risk for developing diabetes by 34 percent - those in the lifestyle change group age 60 or older had even greater benefit, reducing their risk of developing diabetes by 49 percent - participants in the lifestyle change group also had fewer heart and blood vessel disease risk factors, including lower blood pressure and triglyceride levels, even though they took fewer medicines to control their heart disease risk - the metformin group reduced the risk of developing diabetes by 18 percent + +Even though controlling your weight with lifestyle changes is challenging, it produces long-term health rewards by lowering your risk for type 2 diabetes, lowering your blood glucose levels, and reducing other heart disease risk factors. More information about the DPPOS, funded under NIH clinical trial number NCT00038727, can be found at www.bsc.gwu.edu/dpp. + + + +Other Types of Diabetes In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. Type 1 Diabetes Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily. Gestational Diabetes Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs. As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes. Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. + +Type 1 Diabetes + +Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily. + +Gestational Diabetes + +Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs. + +As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes. + +Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +What are the symptoms of Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"The signs and symptoms of type 2 diabetes can be so mild that you might not even notice them. Nearly 7 million people in the United States have type 2 diabetes and dont know they have the disease. Many have no signs or symptoms. Some people have symptoms but do not suspect diabetes. + +Symptoms include + +- increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - numbness or tingling in the feet or hands - sores that do not heal + +Many people do not find out they have the disease until they have diabetes problems, such as blurred vision or heart trouble. If you find out early that you have diabetes, you can get treatment to prevent damage to your body.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ?,"To find out your risk for type 2 diabetes, check each item that applies to you. + +- I am age 45 or older. - I am overweight or obese. - I have a parent, brother, or sister with diabetes. - My family background is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American. - I have had gestational diabetes. - I gave birth to at least one baby weighing more than 9 pounds. - My blood pressure is 140/90 or higher, or I have been told that I have high blood pressure. - My cholesterol levels are higher than normal. My HDL, or good, cholesterol is below 35, or my triglyceride level is above 250. - I am fairly inactive. - I have polycystic ovary syndrome, also called PCOS. - On previous testing, I had prediabetesan A1C level of 5.7 to 6.4 percent, impaired fasting glucose (IFG), or impaired glucose tolerance (IGT). - I have other clinical conditions associated with insulin resistance, such as a condition called acanthosis nigricans, characterized by a dark, velvety rash around my neck or armpits. - I have a history of cardiovascular disease. + +The more items you checked, the higher your risk. + + + +Does sleep matter? Yes. Studies show that untreated sleep problems, especially sleep apnea, can increase the risk of type 2 diabetes. Sleep apnea is a common disorder in which you have pauses in breathing or shallow breaths while you sleep. Most people who have sleep apnea dont know they have it and it often goes undiagnosed. Night shift workers who have problems with sleepiness may also be at increased risk for obesity and type 2 diabetes. If you think you might have sleep problems, ask your doctor for help. More information about sleep problems is available from the National Heart Lung and Blood Institute at http://www.nhlbi.nih.gov/health/resources/sleep.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ?,"You can do a lot to reduce your risk of getting type 2 diabetes. Being more physically active, reducing fat and calorie intake, and losing a little weight can help you lower your chances of developing type 2 diabetes. Taking the diabetes medicine metformin can also reduce risk, particularly in younger and heavier people with prediabetes and women who have had gestational diabetes. Lowering blood pressure and cholesterol levels also helps you stay healthy. + +If you are overweight, then take these steps: + +- Reach and maintain a reasonable body weight. Even a 10 or 15 pound weight loss makes a big difference. - Make wise food choices most of the time. - Be physically active every day. + +If you are fairly inactive, then take this step: + +- Be physically active every day. + +If your blood pressure is too high, then take these steps: + +- Reach and maintain a reasonable body weight. - Make wise food choices most of the time. - Reduce your sodium and alcohol intake. - Be physically active every day. - Talk with your doctor about whether you need medicine to control your blood pressure. + +If your cholesterol or triglyceride levels are too high, then take these steps: + +- Make wise food choices most of the time. - Be physically active every day. - Talk with your doctor about whether you need medicine to control your cholesterol levels.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ?,"Making big changes in your life is hard, especially if you are faced with more than one change. You can make it easier by taking these steps: + +- Make a plan to change behavior. - Decide exactly what you will do and give yourself a time frame. - Plan what you need to get ready. - Track your goals and activity on a food and activity tracker, available at http://www.niddk.nih.gov/health-information/health-communication-programs/ndep/health-care-professionals/game-plan/small-steps/Documents/GP_FoodActTracker.pdf (PDF, 349 KB) - Think about what might prevent you from reaching your goals. - Find family and friends who will support and encourage you. - Decide how you will reward yourselfa shopping trip, movie tickets, an afternoon in the parkwhen you do what you have planned. + +Your doctor, a dietitian, or a counselor can help you make a plan. + + + +Be Physically Active Every Day + +Regular physical activity tackles several risk factors at once. Activity helps you lose weight; keeps your blood glucose, blood pressure, and cholesterol under control; and helps your body use insulin. People in the DPP who were physically active for 30 minutes a day, 5 days a week, reduced their risk of type 2 diabetes. Many chose brisk walking as their physical activity. + +If you are not fairly active, you should start slowly. First, talk with your doctor about what kinds of physical activity are safe for you. Make a plan to increase your activity level toward the goal of being active at least 30 minutes a day most days of the week. You can increase your level of physical activity in two main ways: + +1. Start an exercise program. 2. Increase your daily activity. + +Start an exercise program. Pick exercises that suit you. Find a friend to walk with you or join an exercise class that will help you keep going. + +- Do aerobic activities, which use your large muscles to make your heart beat faster. The large muscles are those of the upper and lower arms; upper and lower legs; and those that control head, shoulder, and hip movements. - Do activities to strengthen muscles and bone, such as lifting weights or sit-ups, two to three times a week. Find helpsuch as a video or a classto learn how to do these exercises properly. + +Increase your daily activity. Choose activities you enjoy. You can work extra activity into your daily routine by doing the following: + +- Increase daily activity by decreasing time spent watching TV or at the computer. Set up a reminder on your computer to take an activity break. - Take the stairs rather than an elevator or escalator. - Park at the far end of the parking lot and walk. - Get off the bus a few stops early and walk the rest of the way. - Walk or bicycle whenever you can. + + + +Take Your Prescribed Medicines + +Some people need medicine to help control their blood pressure or cholesterol levels. If you do, take your medicines as directed. Ask your doctor if you should take metformin to prevent type 2 diabetes. Metformin is a medicine that makes insulin work better and can reduce the risk of type 2 diabetes.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +What to do for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?,"Your eating, diet, and nutrition choices play an important role in preventing or delaying diabetes. Follow the suggestions below to reach and maintain a reasonable weight and make wise food choices most of the time. Remember that it can take time to change your habits and be patient with yourself. You can also get help from a dietitian or join a weight-loss program to support you while you reach your goals. + + + +Reach and Maintain a Reasonable Body Weight + +Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. Excess body weight can also cause high blood pressure. Every pound you lose lowers your risk of getting diabetes. + +In addition to weight, the location of excess fat on the body can be important. A waist measurement of 40 inches or more for men and 35 inches or more for women is linked to insulin resistance and increases a persons risk for type 2 diabetes. This is true even if your BMI falls within the normal range. + + + +Find Your BMI + +The BMI is a measure of body weight relative to height. The BMI can help you find out whether you are normal weight, overweight, or obese. Use the table on pages 24 and 25 to find your BMI. + +- Find your height in the left-hand column. - Move across in the same row to the number closest to your weight. - The number at the top of that column is your BMI. Check the word above your BMI to see whether you are normal weight, overweight, or obese. + +The BMI has certain limitations. The BMI may overestimate body fat in athletes and others who have a muscular build and underestimate body fat in older adults and others who have lost muscle. + +The BMI for children and teens must be determined based on age, height, weight, and sex. The Centers for Disease Control and Prevention (CDC) has information about BMI in children and teens, including a BMI calculator, at www.cdc.gov/nccdphp/dnpa/bmi. The CDC website also has a BMI calculator for adults. A BMI calculator from the NIH is available at www.nhlbi.nih.gov/health/educational/lose_wt/BMI/bmicalc.htm. + +The NIH also has a free smartphone app for calculating BMI. You can search My BMI Calculator on your phone to find the app. The app also provides links to information about steps you can take to bring your BMI into a healthy range.",NIDDK,Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes +What is (are) Insulin Resistance and Prediabetes ?,"Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. + +Insulin plays a major role in metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose. Glucose is a form of sugar that enters the bloodstream. With the help of insulin, cells throughout the body absorb glucose and use it for energy. + +Insulin's Role in Blood Glucose Control + +When blood glucose levels rise after a meal, the pancreas releases insulin into the blood. Insulin and glucose then travel in the blood to cells throughout the body. + +- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. + +In a healthy person, these functions allow blood glucose and insulin levels to remain in the normal range.",NIDDK,Insulin Resistance and Prediabetes +What is (are) Insulin Resistance and Prediabetes ?,"Insulin resistance is a condition in which the body produces insulin but does not use it effectively. When people have insulin resistance, glucose builds up in the blood instead of being absorbed by the cells, leading to type 2 diabetes or prediabetes. + +Most people with insulin resistance don't know they have it for many yearsuntil they develop type 2 diabetes, a serious, lifelong disease. The good news is that if people learn they have insulin resistance early on, they can often prevent or delay diabetes by making changes to their lifestyle. + +Insulin resistance can lead to a variety of serious health disorders. The section ""What is metabolic syndrome?"" provides more information about other health disorders linked to insulin resistance.",NIDDK,Insulin Resistance and Prediabetes +What causes Insulin Resistance and Prediabetes ?,"Although the exact causes of insulin resistance are not completely understood, scientists think the major contributors to insulin resistance are excess weight and physical inactivity. + +Excess Weight + +Some experts believe obesity, especially excess fat around the waist, is a primary cause of insulin resistance. Scientists used to think that fat tissue functioned solely as energy storage. However, studies have shown that belly fat produces hormones and other substances that can cause serious health problems such as insulin resistance, high blood pressure, imbalanced cholesterol, and cardiovascular disease (CVD). + +Belly fat plays a part in developing chronic, or long-lasting, inflammation in the body. Chronic inflammation can damage the body over time, without any signs or symptoms. Scientists have found that complex interactions in fat tissue draw immune cells to the area and trigger low-level chronic inflammation. This inflammation can contribute to the development of insulin resistance, type 2 diabetes, and CVD. Studies show that losing the weight can reduce insulin resistance and prevent or delay type 2 diabetes. + +Physical Inactivity + +Many studies have shown that physical inactivity is associated with insulin resistance, often leading to type 2 diabetes. In the body, more glucose is used by muscle than other tissues. Normally, active muscles burn their stored glucose for energy and refill their reserves with glucose taken from the bloodstream, keeping blood glucose levels in balance. + +Studies show that after exercising, muscles become more sensitive to insulin, reversing insulin resistance and lowering blood glucose levels. Exercise also helps muscles absorb more glucose without the need for insulin. The more muscle a body has, the more glucose it can burn to control blood glucose levels. + +Other Causes + +Other causes of insulin resistance may include ethnicity; certain diseases; hormones; steroid use; some medications; older age; sleep problems, especially sleep apnea; and cigarette smoking. + + + +Does sleep matter? Yes. Studies show that untreated sleep problems, especially sleep apnea, can increase the risk of obesity, insulin resistance, and type 2 diabetes. Night shift workers may also be at increased risk for these problems. Sleep apnea is a common disorder in which a person's breathing is interrupted during sleep. People may often move out of deep sleep and into light sleep when their breathing pauses or becomes shallow. This results in poor sleep quality that causes problem sleepiness, or excessive tiredness, during the day. Many people aren't aware of their symptoms and aren't diagnosed. People who think they might have sleep problems should talk with their health care provider. More information about sleep problems is available from the National Heart, Lung, and Blood Institute at http://www.nhlbi.nih.gov/health/resources/sleep.",NIDDK,Insulin Resistance and Prediabetes +What is (are) Insulin Resistance and Prediabetes ?,"Prediabetes is a condition in which blood glucose or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is becoming more common in the United States. The U.S. Department of Health and Human Services estimates that at least 86 million U.S. adults ages 20 or older had prediabetes in 2012.1 People with prediabetes are at increased risk of developing type 2 diabetes and CVD, which can lead to heart attack or stroke.",NIDDK,Insulin Resistance and Prediabetes +What are the symptoms of Insulin Resistance and Prediabetes ?,"Insulin resistance and prediabetes usually have no symptoms. People may have one or both conditions for several years without knowing they have them. Even without symptoms, health care providers can identify people at high risk by their physical characteristics, also known as risk factors. The section ""Who should be tested for prediabetes?"" lists these risk factors. + +People with a severe form of insulin resistance may have dark patches of skin, usually on the back of the neck. Sometimes people have a dark ring around their neck. Dark patches may also appear on elbows, knees, knuckles, and armpits. This condition is called acanthosis nigricans.",NIDDK,Insulin Resistance and Prediabetes +What is (are) Insulin Resistance and Prediabetes ?,"Metabolic syndrome, also called insulin resistance syndrome, is a group of traits and medical conditions linked to overweight and obesity that puts people at risk for both CVD and type 2 diabetes. Metabolic syndrome is defined* as the presence of any three of the following2: + +- large waist sizewaist measurement of 40 inches or more for men and 35 inches or more for women - high triglycerides in the bloodtriglyceride level of 150 milligrams per deciliter (mg/dL) or above, or taking medication for elevated triglyceride level - abnormal levels of cholesterol in the bloodHDL, or good, cholesterol level below 40 mg/dL for men and below 50 mg/dL for women, or taking medication for low HDL - high blood pressureblood pressure level of 130/85 or above, or taking medication for elevated blood pressure - higher than normal blood glucose levelsfasting blood glucose level of 100 mg/dL or above, or taking medication for elevated blood glucose + +In addition to type 2 diabetes, metabolic syndrome has been linked to the following health disorders: + +- obesity - CVD - PCOS - nonalcoholic fatty liver disease - chronic kidney disease + +However, not everyone with these disorders has insulin resistance, and some people may have insulin resistance without getting these disorders. + +People who are obese or who have metabolic syndrome, insulin resistance, type 2 diabetes, or prediabetes often also have low-level inflammation throughout the body and blood clotting defects that increase the risk of developing blood clots in the arteries. These conditions contribute to increased risk for CVD. + +*Similar definitions have been developed by the World Health Organization and the American Association of Clinical Endocrinologists.",NIDDK,Insulin Resistance and Prediabetes +How to diagnose Insulin Resistance and Prediabetes ?,"Health care providers use blood tests to determine whether a person has prediabetes, but they do not usually test specifically for insulin resistance. Insulin resistance can be assessed by measuring the level of insulin in the blood. + +However, the test that most accurately measures insulin resistance, called the euglycemic clamp, is too costly and complicated to be used in most health care providers' offices. The clamp is a research tool used by scientists to learn more about glucose metabolism. Research has shown that if blood tests indicate prediabetes, insulin resistance most likely is present. + +Blood Tests for Prediabetes + +All blood tests involve drawing blood at a health care provider's office or commercial facility and sending the sample to a lab for analysis. Lab analysis of blood is needed to ensure test results are accurate. Glucose measuring devices used in a health care provider's office, such as finger-stick devices, are not accurate enough for diagnosis but may be used as a quick indicator of high blood glucose. + +Prediabetes can be detected with one of the following blood tests: + +- the A1C test - the fasting plasma glucose (FPG) test - the oral glucose tolerance test (OGTT) + +A1C test. Sometimes called hemoglobin A1c, HbA1c, or glycohemoglobin test, this test reflects average blood glucose levels over the past 3 months. This test is the most reliable test for prediabetes, but it is not as sensitive as the other tests. In some individuals, it may miss prediabetes that could be caught by glucose tests. + +Although some health care providers can quickly measure A1C in their office, that type of measurementcalled a point-of-care testis not considered reliable for diagnosis. For diagnosis of prediabetes, the A1C test should be analyzed in a laboratory using a method that is certified by the NGSP. + +The A1C test can be unreliable for diagnosing prediabetes in people with certain conditions that are known to interfere with the results. Interference should be suspected when A1C results seem very different from the results of a blood glucose test. People of African, Mediterranean, or Southeast Asian descent, or people with family members with sickle cell anemia or a thalassemia, are particularly at risk of interference. People in these groups may have a less common type of hemoglobin, known as a hemoglobin variant, that can interfere with some A1C tests. + +An A1C of 5.7 to 6.4 percent indicates prediabetes. + +More information about the A1C test is provided in the NIDDK health topic, The A1C Test and Diabetes. + +Fasting plasma glucose test. This test measures blood glucose in people who have not eaten anything for at least 8 hours. This test is most reliable when done in the morning. Prediabetes found with this test is called IFG. + +Fasting glucose levels of 100 to 125 mg/dL indicate prediabetes. + +OGTT. This test measures blood glucose after people have not eaten for at least 8 hours and 2 hours after they drink a sweet liquid provided by a health care provider or laboratory. Prediabetes found with this test is called IGT. + +A blood glucose level between 140 and 199 mg/dL indicates prediabetes. + +The following table lists the blood test levels for a diagnosis of prediabetes.",NIDDK,Insulin Resistance and Prediabetes +What to do for Insulin Resistance and Prediabetes ?,"Adopting healthy eating habits can help people lose a modest amount of weight and reverse insulin resistance. Experts encourage people to slowly adopt healthy eating habits that they can maintain, rather than trying extreme weight-loss solutions. People may need to get help from a dietitian or join a weight-loss program for support. + +In general, people should lose weight by choosing healthy foods, controlling portions, eating less fat, and increasing physical activity. People are better able to lose weight and keep it off when they learn how to adapt their favorite foods to a healthy eating plan. + +The DASH (Dietary Approaches to Stop Hypertension) eating plan, developed by the NIH, has been shown to be effective in decreasing insulin resistance when combined with weight loss and physical activity. More information on DASH is available at www.nhlbi.nih.gov/health/health-topics/topics/dash. + +The U.S. Dietary Guidelines for Americans also offers healthy eating advice and tools for changing eating habits at www.choosemyplate.gov. + +Dietary Supplements + +Vitamin D studies show a link between people's ability to maintain healthy blood glucose levels and having enough vitamin D in their blood. However, studies to determine the proper vitamin D levels for preventing diabetes are ongoing; no special recommendations have been made about vitamin D levels or supplements for people with prediabetes. + +Currently, the Institute of Medicine (IOM), the agency that recommends supplementation levels based on current science, provides the following guidelines for daily vitamin D intake: + +- People ages 1 to 70 years may require 600 International Units (IUs). - People ages 71 and older may require as much as 800 IUs. + +The IOM also recommended that no more than 4,000 IUs of vitamin D be taken per day. + +To help ensure coordinated and safe care, people should discuss use of complementary and alternative medicine practices, including the use of dietary supplements, with their health care provider. + +More information about using dietary supplements to help with diabetes is provided in the NIDDK health topic, Complementary and Alternative Medical Therapies for Diabetes. + + + +Physical Activity + +Regular physical activity tackles several risk factors at once. Regular physical activity helps the body use insulin properly. + +Regular physical activity also helps a person + +- lose weight - control blood glucose levels - control blood pressure - control cholesterol levels + +People in the DPP who were physically active for 30 minutes a day, 5 days a week, reduced their risk of type 2 diabetes. Many chose brisk walking as their physical activity. + +Most people should aim for at least 30 minutes of exercise most days of the week. For best results, people should do both aerobic activities, which use large muscle groups and make the heart beat faster, and muscle strengthening activities. + +Aerobic activities include brisk walking, climbing stairs, swimming, dancing, and other activities that increase the heart rate. + +Muscle strengthening activities include lifting weights and doing sit-ups or push-ups. + +People who haven't been physically active recently should talk with their health care provider about which activities are best for them and have a checkup before starting an exercise program. + +Not Smoking + +Those who smoke should quit. A health care provider can help people find ways to quit smoking. Studies show that people who get help have a better chance of quitting. + +For more information about how to reverse insulin resistance and prediabetes with diet and increased physical activity, see the following National Diabetes Education Program publications at www.yourdiabetesinfo.org: - Get Real! You Don't Have to Knock Yourself Out to Prevent Diabetes! - More Than 50 Ways to Prevent Diabetes - Small Steps. Big Rewards. Your Game Plan to Prevent Type 2 Diabetes. + +Medication + +The medication metformin is recommended for treatment of some individuals at very high risk of developing type 2 diabetes. In the DPP, metformin was shown to be most effective in preventing or delaying the development of type 2 diabetes in younger, heavier people with prediabetes. In general, metformin is recommend for those who are younger than age 60 and have + +- combined IGT and IFG - A1C above 6 percent - low HDL cholesterol - elevated triglycerides - a parent or sibling with diabetes - a BMI of at least 35 + +Metformin also lowers the risk of diabetes in women who have had gestational diabetes. People at high risk should ask their health care provider if they should take metformin to prevent type 2 diabetes. + +Several medications have been shown to reduce type 2 diabetes risk to varying degrees, but the only medication recommended by the ADA for type 2 diabetes prevention is metformin. Other medications that have delayed diabetes have side effects or haven't shown long-lasting benefits. No medication, including metformin, is approved by the U.S. Food and Drug Administration to treat insulin resistance or prediabetes or to prevent type 2 diabetes.",NIDDK,Insulin Resistance and Prediabetes +What to do for Insulin Resistance and Prediabetes ?,"- Insulin is a hormone that helps cells throughout the body absorb glucose and use it for energy. Insulin resistance is a condition in which the body produces insulin but does not use it effectively. - Insulin resistance increases the risk of developing type 2 diabetes and prediabetes. - The major contributors to insulin resistance are excess weight, especially around the waist, and physical inactivity. - Prediabetes is a condition in which blood glucose or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough for a diagnosis of diabetes. - The Diabetes Prevention Program (DPP) study and its follow-up study, the Diabetes Prevention Program Outcomes Study (DPPOS), confirmed that people with prediabetes can often prevent or delay diabetes if they lose a modest amount of weight by cutting fat and calorie intake and increasing physical activity. - By losing weight and being more physically active, people can reverse insulin resistance and prediabetes, thus preventing or delaying type 2 diabetes. - People with insulin resistance and prediabetes can decrease their risk for diabetes by eating a healthy diet and reaching and maintaining a healthy weight, increasing physical activity, not smoking, and taking medication. - The DPP showed the diabetes medication metformin to be most effective in preventing or delaying the development of type 2 diabetes in younger and heavier people with prediabetes and women who have had gestational diabetes.",NIDDK,Insulin Resistance and Prediabetes +What is (are) I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ?,"Diabetes causes blood glucose levels to be above normal. People with diabetes have problems converting food to energy. After food is eaten, it is broken down into a sugar called glucose. Glucose is then carried by the blood to cells throughout the body. The hormone insulin, made in the pancreas, helps the body change blood glucose into energy. People with diabetes, however, either no longer make enough insulin, or their insulin doesn't work properly, or both. + +Type 2 diabetes + +Type 2 diabetes is the most common type in American Indians. This type of diabetes can occur at any age, even during childhood. People develop type 2 diabetes because the cells in the muscles, liver, and fat do not use insulin properly. Eventually, the body cannot make enough insulin. As a result, the amount of glucose in the blood increases while the cells are starved of energy. Over time, high blood glucose damages nerves and blood vessels, leading to problems such as heart disease, stroke, blindness, kidney failure, and amputation. + +Other kinds of diabetes + +Type 1 diabetes + +Type 1 diabetes is rare in American Indians. People develop type 1 diabetes when their bodies no longer make any insulin. Type 1 is usually first diagnosed in children or young adults but can develop at any age. + +Gestational diabetes + +Gestational diabetes is first diagnosed during pregnancy. It occurs when the body doesn't use insulin properly. Having an American Indian family background raises the risk of developing gestational diabetes. Although this form of diabetes usually goes away after the baby is born, a woman who has had it is more likely to develop type 2 diabetes later in life.",NIDDK,I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians +What are the symptoms of I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ?,"Many people have no visible signs or symptoms of diabetes. Symptoms can also be so mild that you might not notice them. More than 5 million people in the United States have type 2 diabetes and do not know it. + +- increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - sores that do not heal",NIDDK,I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians +Who is at risk for I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians? ?,"- My mother had diabetes when I was born. - I am overweight. - I have a parent, brother, or sister with diabetes. - My family background is American Indian. - I have had gestational diabetes, or I gave birth to at least one baby weighing more than 9 pounds. - My blood pressure is 140/90 mmHg or higher, or I have been told that I have high blood pressure. - My cholesterol levels are higher than normal. My HDL cholesterol""good"" cholesterolis below 35 mg/dL, or my triglyceride level is above 250 mg/dL. - I am fairly inactive. I exercise fewer than three times a week.",NIDDK,I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians +Who is at risk for I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians? ?,"- Reach and maintain a reasonable body weight. - Make wise food choices most of the time. - Be physically active every day. - Take your prescribed medicines. + +Doing these things can reduce your risk of developing type 2 diabetes. Keeping your blood pressure and cholesterol on target also helps you stay healthy. + +If you are pregnant, plan to breastfeed your baby. Ask your health care provider for the names of people to call for help learning to breastfeed. Besides being good for your baby, breastfeeding is good for you. Studies done with the help of Pima Indian volunteers have shown that breastfeeding may lower the baby's risk of becoming overweight and getting diabetes. + +Getting Started. + +Making changes in your life such as eating less can be hard. You can make the changes easier by taking these steps: + +- Make a plan to change something that you do. - Decide exactly what you will do and when you will do it. - Plan what you need to get ready. - Think about what might prevent you from reaching your goal. - Find family and friends who will support and encourage you. - Decide how you will reward yourselfwith a nonfood itemor activitywhen you do what you have planned. + +Your health care provider, a registered dietitian, or a counselor can help you make a plan. + +Reach and Maintain a Reasonable Body Weight. + +Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin correctly. The extra weight may also cause high blood pressure. The DPP study showed that losing even a few pounds can help lower your risk of developing type 2 diabetes, because weight loss helps your body use insulin more effectively. Every pound you lose lowers your risk of getting diabetes. In the DPP, people who lost 5 to 7 percent of their body weight lowered their risk of developing type 2 diabetes. They had less than half the risk of developing diabetes as people who didn't make lifestyle changes. A 5- to 7-percent weight loss for a 150-pound person, for example, would be about 7 to 10 pounds. If you're overweight, choose sensible ways to lose weight. + +- Don't use crash diets. Instead, eat smaller servings of the foods you usually have, and limit the amount of fat you eat. - Increase your physical activity. Aim for at least 30 minutes of exercise most days of the week. Do something you enjoy, like biking or walking with a friend. - Set a reasonable weight-loss goal, such as losing about a pound a week. Aim for a long-term goal of losing the number of pounds that's right for you. + +Choosing My Weight Loss Goal. + +Losing 5 to 7 percent of your total weight can help lower your risk of getting type 2 diabetes. You are more likely to lose weight if: + +- you're physically active - you cut down on fat and calories - Use these steps to choose a goal. Talk with your health care provider and your dietitian about your goal and how to reach it. + +To find your weight loss goal for losing about 5 to 7 percent of your weight, find the weight closest to yours on the chart below. Follow the row across to see how many pounds you need to lose. + +Your weight in pounds 5 percent loss in pounds* 7 percent loss in pounds** 150 8 11 175 9 12 200 10 14 225 11 16 250 13 18 275 14 19 300 15 21 325 16 23 350 18 25 + +*To find your exact weight loss goal in pounds for a 5 percent loss, multiply your weight by .05. + +**To find your exact weight loss goal in pounds for a 7 percent loss, multiply your weight by .07. + +Write your weight loss goal here: + +To lower my risk of getting type 2 diabetes, my goal is to lose about ___________ pounds. + +Write down what you will do to lose weight. I will: + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +Choose a date to start your plan for losing weight and write it here: + +Start date: ___________________ + +Look ahead to when you think you can meet your goal. Allow about a week for each pound or half-pound you'd like to lose. Write the date for meeting your goal here: + +End date: ___________________ + +Make Wise Food Choices Most of The Time + +What you eat has a big impact on your health. By making wise food choices, you can help control your body weight, blood glucose, blood pressure, and cholesterol. + +- Keep track of what you eat and drink. People who keep track are more successful in losing weight. You can use the Daily Food and Drink Tracker to write down what you eat and drink. - Take a look at the serving sizes of the foods you eat. Reduce serving sizes of main courses, meat, desserts, and other foods high in fat. Increase the amount of fruits and vegetables at every meal. Below is a chart for choosing sensible serving sizes using your hand as a measuring guide. Because your hand is proportioned to the rest of your body, it can be used to measure a healthy serving size for your body. Remember, the chart is only a guide. Choose your serving sizes and foods wisely. - Limit your fat intake to about 25 percent of your total calories. Your health care provider or dietitian can help you figure out how many grams of fat to have every day. You can check food labels for fat content. For example, if your food choices add up to about 2,000 calories a day, try to eat no more than 56 grams of fat. See Ways to Lower The Amount of Fat in Your Meals and Snacks. - Cut down on calories by eating smaller servings and by cutting back on fat. People in the DPP lifestyle change group lowered their daily calorie total by an average of about 450 calories. Your health care provider or dietitian can work with you to develop a meal plan that helps you lose weight. - Choose healthy commodity foods (items provided by the government to help people consume a nutritious diet), including those lower in fat. - When you meet your goal, reward yourself with something special, like a new outfit or a movie. + +Choose Sensible Serving Sizes + +Amount of food Types of food Size of one serving (the same size as:) 3 ounces meat, chicken, turkey, or fish the palm of a hand or a deck of cards 1 cup cooked vegetables salads casseroles or stews, such as chili with beans milk an average-sized fist 1/2 cup fruit or fruit juice starchy vegetables, such as potatoes or corn pinto beans and other dried beans rice or noodles cereal half of an average-sized fist 1 ounce snack food one handful 1 Tablespoon salad dressing the tip of a thumb 1 teaspoon margarine a fingertip + + + +Ways to Lower The Amount of Fat in Your Meals and Snacks + +- Choose lower-fat foods. Example: Instead of sunflower seeds (20 grams of fat), choose pretzels (1 gram). Savings: 19 grams. - Use low-fat versions of foods. Example: Instead of regular margarine (5 grams of fat), use low-fat margarine (2 grams). Savings: 3 grams. - Use low-fat seasonings. Example: Instead of putting butter and sour cream on your baked potato (20 grams of fat), have salsa (0 grams). Savings: 20 grams. - Cook with less fat. Example: Instead of making fried chicken (31 grams of fat), roast or grill the chicken (9 grams). Savings: 22 grams. + +Remember that low-fat or fat-free products still contain calories. Be careful about how much you eat. In fact, some low-fat or fat-free products are high in calories. Check the food label + +Be Physically Active Every Day + +- Keep track of what you do for exercise and how long you do it. Use the Daily Physical Activity Tracker to keep track of your physical activity. - Aim for at least 30 minutes of physical activity a day most days of the week. - Incorporate physical activity into plans with family and friends. Set a good example for your children. Play softball on weekends. Go on a family hike. - Be active every day. For example, walk to the store, clean the house, or work in the garden, rather than watch TV. + +Getting Started on a Walking Routine + +Walking is a great way to be physically active. Before you get started, talk with your health care provider about whether it's OK for you to walk for exercise. Then get comfortable shoes that provide good support. You can use the Daily Physical Activity Tracker to start your routine gradually. Try to walk at least 5 times a week. Build up little by little to 30 minutes a day of brisk walking. + +My Walking Program + +Week number Warm-up time (minutes) Walk slowly Fast walk time (minutes) Walk briskly Cool-down time (minutes) Walk slowly Total (minutes) 1 5 5 5 15 2 5 8 5 18 3 5 11 5 21 4 5 14 5 24 5 5 17 5 27 6 5 20 5 30 7 5 23 5 33 8 5 26 5 36 9+ 5 30 5 40 + +Take Your Prescribed Medicines + + + + + +Daily Food and Drink Tracker + +Use the Daily Food and Drink Tracker to keep track of everything you eat and drink. Make a copy of the form for each day. Write down the time, the name of the food or drink, and how much you had. For a free booklet with information on fat grams and calories, call the National Diabetes Education Program at 1888693NDEP (18886936337) and request a copy of the Game Plan Fat and Calorie Counter(PDF, 405.05 KB). + +Sample + +Daily Food and Drink TrackerDate: _____________ + +Time Name Amount Fat Grams Calories 8:00 am oatmeal 1/2 cup 1 80 fat-free milk 1 cup 0 90 + + + +Daily Physical Activity Tracker + +Use the Daily Physical Activity Tracker to keep track of your physical activity. Make a copy of the form for each day. Write down what you do and for how long. + +Sample + +Daily Physical Activity TrackerDate: _____________ + +Type of Activity Minutes Walking 20 Gardening 10 + + + +Daily Food and Drink TrackerDate: _____________ + +Time Name Amount Fat Grams Calories TOTALS + +Daily Physical Activity TrackerDate: _____________ Type of Activity Minutes TOTAL",NIDDK,I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians +What is (are) Renal Artery Stenosis ?,"Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. + +RVH is high blood pressure caused by RAS. Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. A persons blood pressure is considered normal if it stays at or below 120/80. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1",NIDDK,Renal Artery Stenosis +What is (are) Renal Artery Stenosis ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.",NIDDK,Renal Artery Stenosis +What causes Renal Artery Stenosis ?,"About 90 percent of RAS is caused by atherosclerosisclogging, narrowing, and hardening of the renal arteries.2 In these cases, RAS develops when plaquea sticky substance made up of fat, cholesterol, calcium, and other material found in the bloodbuilds up on the inner wall of one or both renal arteries. Plaque buildup is what makes the artery wall hard and narrow. + +Most other cases of RAS are caused by fibromuscular dysplasia (FMD)the abnormal development or growth of cells on the renal artery wallswhich can cause blood vessels to narrow. Rarely, RAS is caused by other conditions.",NIDDK,Renal Artery Stenosis +Who is at risk for Renal Artery Stenosis? ?,"People at risk for artherosclerosis are also at risk for RAS. Risk factors for RAS caused by artherosclerosis include + +- high blood cholesterol levels - high blood pressure - smoking - insulin resistance - diabetes - being overweight or obese - lack of physical activity - a diet high in fat, cholesterol, sodium, and sugar - being a man older than 45 or a woman older than 55 - a family history of early heart disease + +The risk factors for RAS caused by FMD are unknown, but FMD is most common in women and people 25 to 50 years of age.3 FMD can affect more than one person in a family, indicating that it may be caused by an inherited gene.",NIDDK,Renal Artery Stenosis +What are the symptoms of Renal Artery Stenosis ?,"In many cases, RAS has no symptoms until it becomes severe. + +The signs of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure. RAS should be considered as a cause of high blood pressure in people who + +- are older than age 50 when they develop high blood pressure or have a marked increase in blood pressure - have no family history of high blood pressure - cannot be successfully treated with at least three or more different types of blood pressure medications + +Symptoms of a significant decrease in kidney function include + +- increase or decrease in urination - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - drowsiness or tiredness - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps",NIDDK,Renal Artery Stenosis +What are the complications of Renal Artery Stenosis ?,"People with RAS are at increased risk for complications resulting from loss of kidney function or atherosclerosis occurring in other blood vessels, such as + +- chronic kidney disease (CKD)reduced kidney function over a period of time - coronary artery diseasenarrowing and hardening of arteries that supply blood to the heart - strokebrain damage caused by lack of blood flow to the brain - peripheral vascular diseaseblockage of blood vessels that restricts flow of blood from the heart to other parts of the body, particularly the legs + +RAS can lead to kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant, though this is uncommon in people who receive ongoing treatment for RAS.",NIDDK,Renal Artery Stenosis +How to diagnose Renal Artery Stenosis ?,"A health care provider can diagnose RAS by listening to the abdomen with a stethoscope and performing imaging tests. When blood flows through a narrow artery, it sometimes makes a whooshing sound, called a bruit. The health care provider may place a stethoscope on the front or the side of the abdomen to listen for this sound. The absence of this sound, however, does not exclude the possibility of RAS. + +In some cases, RAS is found when a person has a test for another reason. For example, a health care provider may find RAS during a coronary angiogram for diagnosis of heart problems. A coronary angiogram is a procedure that uses a special dye, called contrast medium, and x rays to see how blood flows through the heart. + +The following imaging tests are used to diagnose RAS: + +- Duplex ultrasound. Duplex ultrasound combines traditional ultrasound with Doppler ultrasonography. Traditional ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. Doppler ultrasonography records sound waves reflected off of moving objects, such as blood, to measure their speed and other aspects of how they flow. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The images can show blockage in the renal artery or blood moving through nearby arteries at a lower-than-normal speed. Ultrasound is noninvasive and low cost. - Catheter angiogram. A catheter angiogram, also called a traditional angiogram, is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through the large arteries, often from the groin, to the artery of interestin this case, the renal artery. The procedure is performed in a hospital or outpatient center by a radiologist. Anesthesia is not needed though a sedative may be given to lessen anxiety during the procedure. Contrast medium is injected through the catheter so the renal artery shows up more clearly on the x ray. Catheter angiogram is the gold standard for diagnosing RAS due to the high quality of the image produced. In addition, severe RAS can be treated during the same visit. However, a catheter angiogram is an invasive procedure, and a person may have side effects from the sedative or contrast medium or may have bleeding or injury to the artery from the catheter. The procedure is also more expensive than other imaging tests. - Computerized tomographic angiography (CTA) scan. CTA scans use a combination of x rays and computer technology to create images. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Contrast medium is injected into a vein in the persons arm to better see the structure of the arteries. CTA scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. CTA scans are less invasive than catheter angiograms and take less time. However, the risks from the x-ray radiation still exist, and the test often requires more contrast medium than a catheter angiogram, so it may not be recommended for a person with poor kidney function. - Magnetic resonance angiogram (MRA). MRA uses radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. Contrast medium may be injected into a vein in the persons arm to better see the structure of the arteries. With most MRA scans, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. In addition to providing high-quality images noninvasively, MRA can provide a functional assessment of blood flow and organ function. However, the use of contrast medium for an MRA is not advised for people with poor kidney function because of the risk of complications to the skin and other organs if the kidneys do not remove the contrast medium well enough.",NIDDK,Renal Artery Stenosis +What are the treatments for Renal Artery Stenosis ?,"Treatment for RAS includes lifestyle changes, medications, and surgery and aims to + +- prevent RAS from getting worse - treat RVH - relieve the blockage of the renal arteries + +RAS that has not led to RVH or caused a significant blockage of the artery may not need treatment. RAS that needs to be treated, also called critical RAS, is defined by the American Heart Association as a reduction by more than 60 percent in the diameter of the renal artery.1 However, health care providers are not exactly sure what degree of blockage will cause significant problems. + +Lifestyle Changes + +The first step in treating RAS is making lifestyle changes that promote healthy blood vessels throughout the body, including the renal arteries. The best ways to keep plaque from building up in the arteries are to exercise, maintain a healthy body weight, and choose healthy foods. People who smoke should quit to help protect their kidneys and other internal organs. + +Medications + +People with RVH may need to take medications thatwhen taken as prescribed by their health care providerlower blood pressure and can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed. Some people with RAS cannot take an ACE inhibitor or ARB due to the effects on the kidneys. People with RAS who are prescribed an ACE inhibitor or ARB should have their kidney function checked within a few weeks of starting the medication. + +A cholesterol-lowering medication to prevent plaque from building up in the arteries and a blood-thinner, such as aspirin, to help the blood flow more easily through the arteries may also be prescribed. + +Surgery + +Although surgery has been used in the past for treatment of RAS due to atherosclerosis, recent studies have not shown improved outcomes with surgery compared with medication. However, surgery may be recommended for people with RAS caused by FMD or RAS that does not improve with medication. Different types of surgery for RAS include the following. The procedures are performed in a hospital by a vascular surgeona doctor who specializes in repairing blood vessels. Anesthesia is needed. + +- Angioplasty and stenting. Angioplasty is a procedure in which a catheter is put into the renal artery, usually through the groin, just as in a catheter angiogram. In addition, for angioplasty, a tiny balloon at the end of the catheter can be inflated to flatten the plaque against the artery wall. A small mesh tube, called a stent, may then be positioned inside the artery to keep plaque flattened and the artery open. People with RAS caused by FMD may be successfully treated with angioplasty alone, while angioplasty with stenting has a better outcome for people with RAS caused by atherosclerosis. - Endarterectomy or bypass surgery. In an endarterectomy, the plaque is cleaned out of the artery, leaving the inside lining smooth and clear. To create a bypass, a vein or synthetic tube is used to connect the kidney to the aorta. This new path serves as an alternate route for blood to flow around the blocked artery into the kidney. These procedures are not performed as often as in the past due to a high risk of complications during and after the procedure.",NIDDK,Renal Artery Stenosis +What to do for Renal Artery Stenosis ?,"Limiting intake of fats, cholesterol, sodium, and sugar can help prevent atherosclerosis, which can lead to RAS. Most sodium in the diet comes from salt. A healthy diet that prevents people from becoming overweight or obese can also help prevent atherosclerosis. People with RAS that has caused decreased kidney function should limit their intake of protein, cholesterol, sodium, and potassium to slow the progression of kidney failure. More information about nutrition for CKD is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults. People should talk with their health care provider about what diet is right for them.",NIDDK,Renal Artery Stenosis +What to do for Renal Artery Stenosis ?,"- Renal artery stenosis (RAS) is the narrowing of one or both renal arteries. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. - Renovascular hypertension (RVH) is high blood pressure caused by RAS. - About 90 percent of RAS is caused by atherosclerosis. Most other cases of RAS are caused by fibromuscular dysplasia (FMD), which can cause blood vessels to narrow. - RAS often has no symptoms until it becomes severe. The first symptoms of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure. - People with RAS are at increased risk for chronic kidney disease (CKD), coronary artery disease, stroke, and peripheral vascular disease. - Imaging tests used to diagnose RAS include duplex ultrasound, catheter angiogram, computerized tomographic angiography (CTA) scan, and magnetic resonance angiogram (MRA). - Treatment for RAS includes lifestyle changes, medications, and surgery.",NIDDK,Renal Artery Stenosis +What is (are) Amyloidosis and Kidney Disease ?,"Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. The buildup of these deposits damages a persons organs and tissues. Amyloidosis can affect different organs and tissues in different people and can affect more than one organ at the same time. Amyloidosis most frequently affects the kidneys, heart, nervous system, liver, and digestive tract. The symptoms and severity of amyloidosis depend on the organs and tissues affected.",NIDDK,Amyloidosis and Kidney Disease +What is (are) Amyloidosis and Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men, the urethra is long, while in women it is short.",NIDDK,Amyloidosis and Kidney Disease +What is (are) Amyloidosis and Kidney Disease ?,"Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. + +Primary Amyloidosis of the Kidneys + +The kidneys are the organs most commonly affected by primary amyloidosis. Amyloid deposits damage the kidneys and make it harder for them to filter wastes and break down proteins. When the kidneys become too damaged, they may no longer be able to function well enough to maintain health, resulting in kidney failure. Kidney failure can lead to problems such as high blood pressure, bone disease, and anemiaa condition in which the body has fewer red blood cells than normal. + +Dialysis-related Amyloidosis + +People who suffer from kidney failure and have been on long-term dialysis may develop dialysis-related amyloidosis. This type of amyloidosis occurs when a certain protein, called beta-2 microglobulin, builds up in the blood because dialysis does not remove it completely. The two types of dialysis are + +- hemodialysis. Hemodialysis uses a special filter called a dialyzer to remove wastes and extra fluid from the blood. - peritoneal dialysis. Peritoneal dialysis uses the lining of the abdominal cavitythe space in the body that holds organs such as the stomach, intestines, and liverto filter the blood. + +Dialysis-related amyloidosis is a complication of kidney failure because neither hemodialysis nor peritoneal dialysis effectively filters beta-2 microglobulin from the blood. As a result, elevated amounts of beta-2 microglobulin remain in the blood. Dialysis-related amyloidosis is relatively common in people with kidney failure, especially adults older than 60 years of age, who have been on dialysis for more than 5 years.1 + +More information is provided in the NIDDK health topics: + +- Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis",NIDDK,Amyloidosis and Kidney Disease +What are the symptoms of Amyloidosis and Kidney Disease ?,"The most common sign of primary amyloidosis of the kidneys is nephrotic syndromea collection of signs that indicate kidney damage. The signs of nephrotic syndrome include + +- albuminuriaan increased amount of albumin, a protein, in the urine. A person with nephrotic syndrome excretes more than half a teaspoon of albumin per day. - hyperlipidemiaa condition in which a persons blood has more-than-normal amounts of fats and cholesterol. - edemaswelling, typically in a persons legs, feet, or ankles and less often in the hands or face. - hypoalbuminemiaa condition in which a persons blood has less-than-normal amounts of albumin. + +More information is provided in the NIDDK health topic, Nephrotic Syndrome in Adults. + +Other signs and symptoms of primary amyloidosis may include + +- fatigue, or feeling tired - shortness of breath - low blood pressure - numbness, tingling, or a burning sensation in the hands or feet - weight loss",NIDDK,Amyloidosis and Kidney Disease +What are the symptoms of Amyloidosis and Kidney Disease ?,"The symptoms of dialysis-related amyloidosis may include + +- pain, stiffness, and fluid in the joints. - abnormal, fluid-containing sacs, called cysts, in some bones. - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. The symptoms of carpal tunnel syndrome include numbness or tingling, sometimes associated with muscle weakness, in the fingers and hands. + +Dialysis-related amyloidosis most often affects bones, joints, and the tissues that connect muscle to bone, called tendons. The disease may also affect the digestive tract and organs such as the heart and lungs. Bone cysts caused by dialysis-related amyloidosis can lead to bone fractures. Dialysis-related amyloidosis can also cause tears in tendons and ligaments. Ligaments are tissues that connect bones to other bones.",NIDDK,Amyloidosis and Kidney Disease +How to diagnose Amyloidosis and Kidney Disease ?,"A health care provider diagnoses primary amyloidosis of the kidneys with + +- a medical and family history - a physical exam - urinalysis - blood tests - a kidney biopsy + +Medical and Family History + +Taking a medical and family history may help a health care provider diagnose amyloidosis of the kidneys. He or she will ask the patient to provide a medical and family history. + +Physical Exam + +A physical exam may help diagnose primary amyloidosis of the kidneys. During a physical exam, a health care provider usually + +- examines a patients body to check for swelling - uses a stethoscope to listen to the lungs - taps on specific areas of the patients body + +Urinalysis + +A health care provider may use urinalysisthe testing of a urine sampleto check for albumin and amyloid proteins in urine. The patient provides a urine sample in a special container at a health care providers office or a commercial facility. A nurse or technician can test the sample in the same location or send it to a lab for analysis. More-than-normal amounts of albumin in urine may indicate kidney damage due to primary amyloidosis. Amyloid proteins in urine may indicate amyloidosis. + +Blood Tests + +The health care provider may use blood tests to see how well the kidneys are working and to check for amyloid proteins and hyperlipidemia. A blood test involves drawing a patients blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Blood tests for kidney function measure the waste products in the blood that healthy kidneys normally filter out. Hyperlipidemia may indicate nephrotic syndrome. Amyloid proteins in blood may indicate amyloidosis. + +Kidney Biopsy + +Only a biopsy can show the amyloid protein deposits in the kidneys. A health care provider may recommend a kidney biopsy if other tests show kidney damage. A kidney biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. A health care provider performs a kidney biopsy in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography (CT) scan to guide the biopsy needle into the kidney and take the tissue sample. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab for amyloid proteins and kidney damage. + +The biopsy results can help the health care provider determine the best course of treatment. More information is provided in the NIDDK health topic, Kidney Biopsy.",NIDDK,Amyloidosis and Kidney Disease +How to diagnose Amyloidosis and Kidney Disease ?,"A health care provider diagnoses dialysis-related amyloidosis with + +- urinalysis - blood tests - imaging tests + +A health care provider can use urinalysis and blood tests to detect the amount of amyloid proteins in urine and blood. Imaging tests, such as x-rays and CT scans, can provide pictures of bone cysts and amyloid deposits in bones, joints, tendons, and ligaments. An x-ray technician performs imaging tests in a health care providers office, an outpatient center, or a hospital. A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not require anesthesia.",NIDDK,Amyloidosis and Kidney Disease +What are the treatments for Amyloidosis and Kidney Disease ?,"A health care provider treats primary amyloidosis of the kidneys with the following: + +- medication therapy, including chemotherapy - a stem cell transplant - treating other conditions + +Medication therapy. The goal of medication therapy, including chemotherapy, is to reduce amyloid protein levels in the blood. Many health care providers recommend combination medication therapy such as + +- melphalan (Alkeran), a type of chemotherapy - dexamethasone (Decadron), an anti-inflammatory steroid medication + +These medications can stop the growth of the cells that make amyloid proteins. These medications may cause hair loss and serious side effects, such as nausea, vomiting, and fatigue. + +Stem cell transplant. A stem cell transplant is a procedure that replaces a patients damaged stem cells with healthy ones. Stem cells are found in the bone marrow and develop into three types of blood cells the body needs. To prepare for a stem cell transplant, the patient receives high doses of chemotherapy. The actual transplant is like a blood transfusion. The transplanted stem cells travel to the bone marrow to make healthy new blood cells. The chemotherapy a patient receives to prepare for the transplant can have serious side effects, so it is important to talk with the health care provider about the risks of this procedure. + +Read more in What Is a Blood and Marrow Stem Cell Transplant? at www.nhlbi.nih.gov/health/health-topics/topics/bmsct. + +Treating other conditions. Primary amyloidosis has no cure, so treating some of the side effects and other conditions seen with the disease is essential. Other conditions may include + +- anemiatreatment may include medications - depressiontreatment may include talking with a mental health counselor and taking medications - fatiguetreatment may include changes in diet and activity level - kidney diseasetreatment may include medications to help maintain kidney function or slow the progression of kidney disease + +A patient and his or her family should talk with the health care provider about resources for support and treatment options. + +More information about kidney disease is provided in the NIDDK health topic, niddk-kidney disease.",NIDDK,Amyloidosis and Kidney Disease +What are the treatments for Amyloidosis and Kidney Disease ?,"A health care provider treats dialysis-related amyloidosis with + +- medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant + +The goal of medication therapy and the use of newer, more effective hemodialysis filters is to reduce amyloid protein levels in the blood. Medication therapy can help reduce symptoms such as pain and inflammation. A health care provider may treat a person with dialysis-related amyloidosis who has bone, joint, and tendon problems, such as bone cysts and carpal tunnel syndrome, using surgery. + +Dialysis-related amyloidosis has no cure; however, a successful kidney transplant may stop the disease from progressing. + +More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation.",NIDDK,Amyloidosis and Kidney Disease +What to do for Amyloidosis and Kidney Disease ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing primary amyloidosis of the kidneys or dialysis-related amyloidosis. People with nephrotic syndrome may make dietary changes such as + +- limiting dietary sodium, often from salt, to help reduce edema and lower blood pressure - decreasing liquid intake to help reduce edema and lower blood pressure - eating a diet low in saturated fat and cholesterol to help control more-than-normal amounts of fats and cholesterol in the blood + +Health care providers may recommend that people with kidney disease eat moderate or reduced amounts of protein. Proteins break down into waste products that the kidneys filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. + +People with kidney disease on a restricted protein diet should receive blood tests that can show low nutrient levels. People with primary amyloidosis of the kidneys or dialysis-related amyloidosis should talk with a health care provider about dietary restrictions to best manage their individual needs.",NIDDK,Amyloidosis and Kidney Disease +What to do for Amyloidosis and Kidney Disease ?,"- Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. - Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. - The most common sign of primary amyloidosis of the kidneys is nephrotic syndrome. - The signs of nephrotic syndrome include - albuminuriaan elevated amount of albumin in the urine. A person with nephrotic syndrome excretes more than half a teaspoon of albumin per day. - hyperlipidemiaa condition in which a persons blood has more-than-normal amounts of fats and cholesterol. - edemaswelling, typically in a persons legs, feet, or ankles and less often in the hands or face. - hypoalbuminemiaa condition in which a persons blood has less-than-normal amounts of albumin. - Other signs and symptoms of primary amyloidosis may include - fatigue, or feeling tired - shortness of breath - low blood pressure - numbness, tingling, or a burning sensation in the hands or feet - weight loss - The symptoms of dialysis-related amyloidosis may include - pain, stiffness, and fluid in the joints. - abnormal, fluid-containing sacs, called cysts, in some bones. - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. The symptoms of carpal tunnel syndrome include numbness or tingling, sometimes associated with muscle weakness, in the fingers and hands. - A health care provider diagnoses primary amyloidosis of the kidneys with - a medical and family history - a physical exam - urinalysis - blood tests - a kidney biopsy - A health care provider diagnoses dialysis-related amyloidosis with - urinalysis - blood tests - imaging tests - A health care provider treats primary amyloidosis of the kidneys with the following: - medication therapy, including chemotherapy - a stem cell transplant - treating other conditions - A health care provider treats dialysis-related amyloidosis with - medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant",NIDDK,Amyloidosis and Kidney Disease +What is (are) Amyloidosis and Kidney Disease ?,"You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face. + +Booklets + +- What I need to know about Kidney Failure and How its Treated - Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis + +Fact Sheets + +- Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure + +Learning as much as you can about your treatment will help make you an important member of your health care team. + + + + + +This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. + +The NIDDK would like to thank: Glenn Chertow, M.D., University of California at San Francisco; William J. Stone, M.D., Vanderbilt University; Morie A. Gertz, M.D., Mayo Clinic + +This information is not copyrighted. The NIDDK encourages people to share this content freely. + + + + + +September 2014",NIDDK,Amyloidosis and Kidney Disease +What is (are) Primary Biliary Cirrhosis ?,"Primary biliary cirrhosis is a chronic, or long lasting, disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. + +The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. When food enters the stomach after a meal, the gallbladder contracts, and the bile ducts carry bile to the duodenum, the first part of the small intestine, for use in digestion. The liver makes bile, which is made up of bile acids, cholesterol, fats, and fluids. Bile helps the body absorb fats, cholesterol, and fat-soluble vitamins. Bile also carries cholesterol, toxins, and waste products to the intestines, where the body removes them. When chronic inflammation, or swelling, damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue. + +This damage to the liver tissue can lead to cirrhosis, a condition in which the liver slowly deteriorates and is unable to function normally. In cirrhosis, scar tissue replaces healthy liver tissue, partially blocking the flow of blood through the liver. + +The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many functions, including + +- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed - making new proteins, such as clotting factors and immune factors - producing bile - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications + +A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete, and the liver creates scar tissue. Scarring of the liver may lead to cirrhosis. + +The buildup of scar tissue that causes cirrhosis is usually a slow and gradual process. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse and scar tissue replaces more healthy tissue, the liver will begin to fail. Chronic liver failure, which is also called end-stage liver disease, progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or effectively replace damaged cells. + +Primary biliary cirrhosis usually occurs between the ages of 30 and 65 and affects women more often than men.1",NIDDK,Primary Biliary Cirrhosis +What causes Primary Biliary Cirrhosis ?,"The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver. + +Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including + +- exposure to toxic chemicals - smoking - infections + +Genetics can also make some people more likely to develop other autoimmune diseases, such as + +- autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland",NIDDK,Primary Biliary Cirrhosis +What are the symptoms of Primary Biliary Cirrhosis ?,"The first and most common symptoms of primary biliary cirrhosis are + +- fatigue, or feeling tired - itching skin, and darkened skin in itching areas due to scratching - dry eyes and mouth + +Some people may have jaundice, a condition that causes the skin and whites of the eyes to turn yellow. Health care providers diagnose up to 60 percent of people with primary biliary cirrhosis before symptoms begin.2 Routine blood tests showing abnormal liver enzyme levels may lead a health care provider to suspect that a person without symptoms has primary biliary cirrhosis.",NIDDK,Primary Biliary Cirrhosis +What are the complications of Primary Biliary Cirrhosis ?,"Most complications of primary biliary cirrhosis are related to cirrhosis and start after primary biliary cirrhosis progresses to cirrhosis. In some cases, portal hypertension and esophageal varices may develop before cirrhosis. + +Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension is a common complication of cirrhosis. This condition may lead to other complications, such as + +- edemaswelling due to a buildup of fluidin the feet, ankles, or legs, and ascitesa buildup of fluid in the abdomen - enlarged blood vessels, called varices, in the esophagus, stomach, or both - an enlarged spleen, called splenomegaly - mental confusion due to a buildup of toxins that are ordinarily removed by the liver, a condition called hepatic encephalopathy + +Edema and ascites. Liver failure causes fluid buildup that results in edema and ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention. + +Varices. Portal hypertension may cause enlarged blood vessels in the esophagus, stomach, or both. These enlarged blood vessels, called esophageal or gastric varices, cause the vessel walls to become thin and blood pressure to increase, making the blood vessels more likely to burst. If they burst, serious bleeding can occur in the esophagus or upper stomach, requiring immediate medical attention. + +Splenomegaly. Portal hypertension may cause the spleen to enlarge and retain white blood cells and platelets, reducing the numbers of these cells and platelets in the blood. A low platelet count may be the first evidence that a person has developed cirrhosis. + +Hepatic encephalopathy. A failing liver cannot remove toxins from the blood, so they eventually accumulate in the brain. The buildup of toxins in the brain is called hepatic encephalopathy. This condition can decrease mental function and cause stupor and even coma. Stupor is an unconscious, sleeplike state from which a person can only be aroused briefly by a strong stimulus, such as a sharp pain. Coma is an unconscious, sleeplike state from which a person cannot be aroused. Signs of decreased mental function include + +- confusion - personality changes - memory loss - trouble concentrating - a change in sleep habits + +Metabolic bone diseases. Some people with cirrhosis develop a metabolic bone disease, which is a disorder of bone strength usually caused by abnormalities of vitamin D, bone mass, bone structure, or minerals, such as calcium and phosphorous. Osteopenia is a condition in which the bones become less dense, making them weaker. When bone loss becomes more severe, the condition is referred to as osteoporosis. People with these conditions are more likely to develop bone fractures. + +Gallstones and bile duct stones. If cirrhosis prevents bile from flowing freely to and from the gallbladder, the bile hardens into gallstones. Symptoms of gallstones include abdominal pain and recurrent bacterial cholangitisirritated or infected bile ducts. Stones may also form in and block the bile ducts, causing pain, jaundice, and bacterial cholangitis. + +Steatorrhea. Steatorrhea is a condition in which the body cannot absorb fat, causing a buildup of fat in the stool and loose, greasy, and foul-smelling bowel movements. Steatorrhea may be caused by impairment of bile delivery to the small intestine or by the pancreas not producing enough digestive enzymes. + +Liver cancer. Liver cancer is common in people with cirrhosis. Liver cancer has a high mortality rate. Current treatments are limited and only fully successful if a health care provider detects the cancer early, before the tumor is too large. For this reason, health care providers should check people with cirrhosis for signs of liver cancer every 6 to 12 months. Health care providers use blood tests, ultrasound, or both to check for signs of liver cancer.",NIDDK,Primary Biliary Cirrhosis +How to diagnose Primary Biliary Cirrhosis ?,"A health care provider may use the following tests to diagnose primary biliary cirrhosis: + +- a medical and family history - a physical exam - blood tests - imaging tests - a liver biopsy + +A health care provider usually bases a diagnosis of primary biliary cirrhosis on two out of three of the following criteria: + +- a blood test showing elevated liver enzymes - a blood test showing the presence of anti-mitochondrial antibodies (AMA) - a liver biopsy showing signs of the disease + +Health care providers may order additional tests to rule out other causes of symptoms. Health care providers diagnose the majority of people with primary biliary cirrhosis early in the course of the disease. + +Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose primary biliary cirrhosis. He or she will ask a patient to provide a medical and family history. + +Physical exam. A physical exam may help diagnose primary biliary cirrhosis. During a physical exam, a health care provider usually + +- examines a patients body - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patients body + +The health care provider will perform a physical exam to look for signs of the disease. For example, the liver may feel hard or ascites may cause the abdomen to enlarge. + +Blood test. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can show elevated levels of liver enzymes, such as alkaline phosphatase. A routine blood test may show high levels of the liver enzyme alkaline phosphatase in people who have primary biliary cirrhosis and are not yet showing symptoms. + +The health care provider will perform an AMA blood test to help confirm the diagnosis. A blood test will detect the presence of AMA in 90 to 95 percent of people with primary biliary cirrhosis.3 + +Imaging tests. A health care provider may use the following imaging tests to examine the bile ducts. These tests can distinguish between primary biliary cirrhosis and other conditions that affect the bile ducts. + +- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaging interprets the images. A patient does not need anesthesia. In addition to showing problems with the bile ducts, the images can show signs of advanced cirrhosis or complications. - Magnetic resonance cholangiopancreatography uses magnetic resonance imaging (MRI) to examine the bile ducts. MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs magnetic resonance cholangiopancreatography in an outpatient center or a hospital, and a radiologist interprets the images. A patient does not need anesthesia, though a health care provider may use light sedation for patients with a fear of confined spaces. With most MRI machines, the patient lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines allow the patient to lie in a more open space. - Endoscopic retrograde cholangiopancreatography uses an x ray to look at the bile ducts. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. After lightly sedating the patient, the gastroenterologist inserts an endoscopea small, flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The gastroenterologist injects a special dye, called contrast medium, through the tube into the bile ducts, which makes the ducts show up on the monitor. This test is more invasive than other imaging tests, and health care providers do not routinely need the test to make the diagnosis of primary biliary cirrhosis. A health care provider uses the test selectively when he or she is concerned that the blockage of the bile ducts has another cause, such as a gallstone or a narrowing of the large bile ducts due to inflammation or cancer. Patients may have pain, nausea, or vomiting after the test or may develop bacterial cholangitis or pancreatitisinflammation of the pancreas. + +Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The health care provider may ask the patient to fast for 8 hours before the procedure. + +During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. + +A health care provider performs a liver biopsy at a hospital or an outpatient center. The health care provider sends the liver sample to a pathology lab, where the pathologista doctor who specializes in diagnosing diseaseslooks at the tissue with a microscope and sends a report to the patients health care provider. + +A liver biopsy can confirm the diagnosis of primary biliary cirrhosis; however, a person does not always need this test. A health care provider will perform a biopsy if the AMA blood test is negative and the person shows other signs of primary biliary cirrhosis. Sometimes a health care provider finds a cause of liver damage other than primary biliary cirrhosis during biopsy.",NIDDK,Primary Biliary Cirrhosis +What are the treatments for Primary Biliary Cirrhosis ?,"Treatment for primary biliary cirrhosis depends on how early a health care provider diagnoses the disease and whether complications are present. In the early stages of primary biliary cirrhosis, treatment can slow the progression of liver damage to cirrhosis. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. + +Medications + +Health care providers prescribe ursodiol (Actigall, Urso) to treat primary biliary cirrhosis. Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are more toxic and can harm the liver. Treatment with ursodiol can reduce levels of bilirubin and liver enzymes in the blood. Early treatment with this medication reduces the likelihood of needing a liver transplant and improves survival.3 Early treatment provides the most benefit; however, ursodiol treatment late in the course of the disease can still slow the progression of liver damage. While ursodiol treatment improves the outcome of primary biliary cirrhosis, it does not cure the disease. + +Researchers are studying the effects of several other medications on the progression of primary biliary cirrhosis. To date, none has shown the positive effects of ursodiol. + +Avoiding Alcohol and Other Substances + +People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage. People with cirrhosis should avoid complementary and alternative medications, such as herbs. People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. Many vitamins and prescription and over-the-counter medications can affect liver function. + +Treatment of Symptoms and Complications + +Health care providers treat symptoms and complications as follows: + +Itching. Antihistamines may help with mild itching. However, antihistamines often cause drowsiness, and a person should take antihistamines just before bedtime to help with nighttime itching. A health care provider will treat more problematic itching with cholestyramine (Locholest, Questran), which reduces cholesterol in the blood. Experts believe high levels of cholesterol let substances that cause itching build up in tissues. + +Dry eyes and mouth. Health care providers usually treat dry eyes and mouth with artificial tears and saliva substitutes, respectively. These products are available without a prescription. A health care provider may treat people whose symptoms do not improve with pilocarpine (Salagen) or cevimeline (Evoxac). People who have difficulty with dry eyes should see an ophthalmologista doctor who diagnoses and treats all eye diseases and eye disordersregularly. People with dry mouth should have regular dental exams. + +Portal hypertension. A health care provider may prescribe a beta-blocker or nitrate to treat portal hypertension. Beta-blockers lower blood pressure by helping the heart beat slower and with less force, and nitrates relax and widen blood vessels to let more blood flow to the heart and reduce the hearts workload. + +Varices. Beta-blockers can lower the pressure in varices and reduce the likelihood of bleeding. Bleeding in the stomach or esophagus requires an immediate upper endoscopy. This procedure involves using an endoscope to look for varices. The health care provider may use the endoscope to perform a band ligation, a procedure that involves placing a special rubber band around the varices that causes the tissue to die and fall off. A gastroenterologist performs the procedure at a hospital or an outpatient center. People who have had varices in the past may need to take medication to prevent future episodes. + +Edema and ascites. Health care providers prescribe diureticsmedications that remove fluid from the bodyto treat edema and ascites. A health care provider may remove large amounts of ascitic fluid from the abdomen and check for spontaneous bacterial peritonitis. A health care provider may prescribe bacteria-fighting medications called antibiotics to prevent infection. He or she may prescribe oral antibiotics; however, severe infection with ascites requires intravenous (IV) antibiotics. + +Hepatic encephalopathy. A health care provider will treat hepatic encephalopathy by cleansing the bowel with lactulose, a laxative given orally or as an enemaa liquid put into the rectum. A health care provider may also add antibiotics to the treatment. Hepatic encephalopathy may improve as other complications of cirrhosis are controlled. + +Osteoporosis. A health care provider may prescribe bisphosphonate medications to improve bone density. + +Gallstones and bile duct stones. A health care provider may use surgery to remove gallstones. He or she may use endoscopic retrograde cholangiopancreatography, which uses balloons and basketlike devices, to retrieve the bile duct stones. + +Liver cancer. A health care provider may recommend screening tests every 6 to 12 months to check for signs of liver cancer. Screening tests can find cancer before the person has symptoms of the disease. Cancer treatment is usually more effective when the health care provider finds the disease early. Health care providers use blood tests, ultrasound, or both to screen for liver cancer in people with cirrhosis. He or she may treat cancer with a combination of surgery, radiation, and chemotherapy.",NIDDK,Primary Biliary Cirrhosis +What to do for Primary Biliary Cirrhosis ?,"A healthy diet is important in all stages of cirrhosis because malnutrition is common in people with this disease. Malnutrition is a condition that occurs when the body does not get enough nutrients. Cirrhosis may lead to malnutrition because it can cause + +- people to eat less because of symptoms such as loss of appetite - changes in metabolism - reduced absorption of vitamins and minerals + +Health care providers can recommend a meal plan that is well balanced and provides enough calories and protein. If ascites develops, a health care provider or dietitian may recommend a sodium-restricted diet. To improve nutrition, the health care provider may prescribe a liquid supplement. A person may take the liquid by mouth or through a nasogastric tubea tiny tube inserted through the nose and throat that reaches into the stomach. + +A person with cirrhosis should not eat raw shellfish, which can contain a bacterium that causes serious infection. Cirrhosis affects the immune system, making people with cirrhosis more likely than healthy people to develop an infection after eating shellfish that contain this bacterium. + +A health care provider may recommend calcium and vitamin D supplements to help prevent osteoporosis.",NIDDK,Primary Biliary Cirrhosis +What to do for Primary Biliary Cirrhosis ?,"- Primary biliary cirrhosis is a chronic disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear. - When chronic inflammation damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue. This damage to the liver tissue can lead to cirrhosis. - The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. - Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. - The first and most common symptoms of primary biliary cirrhosis are fatigue, itching, and dry eyes and mouth. Some people may have jaundice, a condition that causes the skin and whites of the eyes to turn yellow. Health care providers diagnose up to 60 percent of people with primary biliary cirrhosis before symptoms begin. - Most complications of primary biliary cirrhosis are related to cirrhosis and start after primary biliary cirrhosis progresses to cirrhosis. - A health care provider may use the following tests to diagnose primary biliary cirrhosis: - a medical and family history - a physical exam - blood tests - imaging tests - a liver biopsy - Health care providers prescribe ursodiol (Actigall, Urso) to treat primary biliary cirrhosis. Early treatment with this medication reduces the likelihood of needing a liver transplant and improves survival. - A health care provider may consider a liver transplant when cirrhosis leads to liver failure or treatment for complications is ineffective.",NIDDK,Primary Biliary Cirrhosis +What is (are) Proteinuria ?,"Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important functions. They protect the body from infection, help blood clot, and keep the right amount of fluid circulating throughout the body. + +As blood passes through healthy kidneys, they filter out the waste products and leave in the things the body needs, like albumin and other proteins. Most proteins are too big to pass through the kidneys' filters into the urine. However, proteins from the blood can leak into the urine when the filters of the kidney, called glomeruli, are damaged. + +Proteinuria is a sign of chronic kidney disease (CKD), which can result from diabetes, high blood pressure, and diseases that cause inflammation in the kidneys. For this reason, testing for albumin in the urine is part of a routine medical assessment for everyone. Kidney disease is sometimes called renal disease. If CKD progresses, it can lead to end-stage renal disease (ESRD), when the kidneys fail completely. A person with ESRD must receive a kidney transplant or regular blood-cleansing treatments called dialysis.",NIDDK,Proteinuria +Who is at risk for Proteinuria? ?,"People with diabetes, hypertension, or certain family backgrounds are at risk for proteinuria. In the United States, diabetes is the leading cause of ESRD.1 In both type 1 and type 2 diabetes, albumin in the urine is one of the first signs of deteriorating kidney function. As kidney function declines, the amount of albumin in the urine increases. + +Another risk factor for developing proteinuria is hypertension, or high blood pressure. Proteinuria in a person with high blood pressure is an indicator of declining kidney function. If the hypertension is not controlled, the person can progress to full kidney failure. + +African Americans are more likely than Caucasians to have high blood pressure and to develop kidney problems from it, even when their blood pressure is only mildly elevated. In fact, African Americans are six times more likely than Caucasians to develop hypertension-related kidney failure.2 + +Other groups at risk for proteinuria are American Indians, Hispanics/Latinos, Pacific Islander Americans, older adults, and overweight people. These at-risk groups and people who have a family history of kidney disease should have their urine tested regularly.",NIDDK,Proteinuria +What are the symptoms of Proteinuria ?,"Proteinuria has no signs or symptoms in the early stages. Large amounts of protein in the urine may cause it to look foamy in the toilet. Also, because protein has left the body, the blood can no longer soak up enough fluid, so swelling in the hands, feet, abdomen, or face may occur. This swelling is called edema. These are signs of large protein loss and indicate that kidney disease has progressed. Laboratory testing is the only way to find out whether protein is in a persons urine before extensive kidney damage occurs. + +Several health organizations recommend regular urine checks for people at risk for CKD. A 1996 study sponsored by the National Institutes of Health determined that proteinuria is the best predictor of progressive kidney failure in people with type 2 diabetes. The American Diabetes Association recommends regular urine testing for proteinuria for people with type 1 or type 2 diabetes. The National Kidney Foundation recommends that routine checkups include testing for excess protein in the urine, especially for people in high-risk groups.",NIDDK,Proteinuria +How to diagnose Proteinuria ?,"Until recently, an accurate protein measurement required a 24-hour urine collection. In a 24-hour collection, the patient urinates into a container, which is kept refrigerated between trips to the bathroom. The patient is instructed to begin collecting urine after the first trip to the bathroom in the morning. Every drop of urine for the rest of the day is to be collected in the container. The next morning, the patient adds the first urination after waking and the collection is complete. + +In recent years, researchers have found that a single urine sample can provide the needed information. In the newer technique, the amount of albumin in the urine sample is compared with the amount of creatinine, a waste product of normal muscle breakdown. The measurement is called a urine albumin-to-creatinine ratio (UACR). A urine sample containing more than 30 milligrams of albumin for each gram of creatinine (30 mg/g) is a warning that there may be a problem. If the laboratory test exceeds 30 mg/g, another UACR test should be done 1 to 2 weeks later. If the second test also shows high levels of protein, the person has persistent proteinuria, a sign of declining kidney function, and should have additional tests to evaluate kidney function.",NIDDK,Proteinuria +How to diagnose Proteinuria ?,"Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. This calculation is called the estimated glomerular filtration rate, or eGFR. CKD is present when the eGFR is less than 60 milliliters per minute (mL/min).",NIDDK,Proteinuria +What to do for Proteinuria ?,"- Proteinuria is a condition in which urine contains a detectable amount of protein. - Proteinuria is a sign of chronic kidney disease (CKD). - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabetes or hypertension, and people who have a family history of kidney disease. - Proteinuria may have no signs or symptoms. Laboratory testing is the only way to find out whether protein is in a person's urine. - Several health organizations recommend regular checks for proteinuria so kidney disease can be detected and treated before it progresses. - A person with diabetes, hypertension, or both should work to control blood glucose and blood pressure.",NIDDK,Proteinuria +What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction. + +The prostate goes through two main growth periods as a man ages. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second growth phase. + +As the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder. The narrowing of the urethra and urinary retentionthe inability to empty the bladder completelycause many of the problems associated with benign prostatic hyperplasia.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?,"The prostate is a walnut-shaped gland that is part of the male reproductive system. The main function of the prostate is to make a fluid that goes into semen. Prostate fluid is essential for a mans fertility. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The bladder and urethra are parts of the lower urinary tract. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue, and it is in front of the rectum, just below the bladder. The urethra is the tube that carries urine from the bladder to the outside of the body. In men, the urethra also carries semen out through the penis.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What causes Prostate Enlargement: Benign Prostatic Hyperplasia ?,"The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. Benign prostatic hyperplasia does not develop in men whose testicles were removed before puberty. For this reason, some researchers believe factors related to aging and the testicles may cause benign prostatic hyperplasia. + +Throughout their lives, men produce testosterone, a male hormone, and small amounts of estrogen, a female hormone. As men age, the amount of active testosterone in their blood decreases, which leaves a higher proportion of estrogen. Scientific studies have suggested that benign prostatic hyperplasia may occur because the higher proportion of estrogen within the prostate increases the activity of substances that promote prostate cell growth. + +Another theory focuses on dihydrotestosterone (DHT), a male hormone that plays a role in prostate development and growth. Some research has indicated that even with a drop in blood testosterone levels, older men continue to produce and accumulate high levels of DHT in the prostate. This accumulation of DHT may encourage prostate cells to continue to grow. Scientists have noted that men who do not produce DHT do not develop benign prostatic hyperplasia.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +How many people are affected by Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. In 2010, as many as 14 million men in the United States had lower urinary tract symptoms suggestive of benign prostatic hyperplasia.1 Although benign prostatic hyperplasia rarely causes symptoms before age 40, the occurrence and symptoms increase with age. Benign prostatic hyperplasia affects about 50 percent of men between the ages of 51 and 60 and up to 90 percent of men older than 80.2",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What are the symptoms of Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include + +- urinary frequencyurination eight or more times a day - urinary urgencythe inability to delay urination - trouble starting a urine stream - a weak or an interrupted urine stream - dribbling at the end of urination - nocturiafrequent urination during periods of sleep - urinary retention - urinary incontinencethe accidental loss of urine - pain after ejaculation or during urination - urine that has an unusual color or smell + +Symptoms of benign prostatic hyperplasia most often come from + +- a blocked urethra - a bladder that is overworked from trying to pass urine through the blockage + +The size of the prostate does not always determine the severity of the blockage or symptoms. Some men with greatly enlarged prostates have little blockage and few symptoms, while other men who have minimally enlarged prostates have greater blockage and more symptoms. Less than half of all men with benign prostatic hyperplasia have lower urinary tract symptoms.3 + +Sometimes men may not know they have a blockage until they cannot urinate. This condition, called acute urinary retention, can result from taking over-the-counter cold or allergy medications that contain decongestants, such as pseudoephedrine and oxymetazoline. A potential side effect of these medications may prevent the bladder neck from relaxing and releasing urine. Medications that contain antihistamines, such as diphenhydramine, can weaken the contraction of bladder muscles and cause urinary retention, difficulty urinating, and painful urination. When men have partial urethra blockage, urinary retention also can occur as a result of alcohol consumption, cold temperatures, or a long period of inactivity.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What are the complications of Prostate Enlargement: Benign Prostatic Hyperplasia ?,"The complications of benign prostatic hyperplasia may include + +- acute urinary retention - chronic, or long lasting, urinary retention - blood in the urine - urinary tract infections (UTIs) - bladder damage - kidney damage - bladder stones + +Most men with benign prostatic hyperplasia do not develop these complications. However, kidney damage in particular can be a serious health threat when it occurs. + + + +When to Seek Medical Care A person may have urinary symptoms unrelated to benign prostatic hyperplasia that are caused by bladder problems, UTIs, or prostatitisinflammation of the prostate. Symptoms of benign prostatic hyperplasia also can signal more serious conditions, including prostate cancer. Men with symptoms of benign prostatic hyperplasia should see a health care provider. Men with the following symptoms should seek immediate medical care: - complete inability to urinate - painful, frequent, and urgent need to urinate, with fever and chills - blood in the urine - great discomfort or pain in the lower abdomen and urinary tract",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +How to diagnose Prostate Enlargement: Benign Prostatic Hyperplasia ?,"A health care provider diagnoses benign prostatic hyperplasia based on + +- a personal and family medical history - a physical exam - medical tests + +Personal and Family Medical History + +Taking a personal and family medical history is one of the first things a health care provider may do to help diagnose benign prostatic hyperplasia. A health care provider may ask a man + +- what symptoms are present - when the symptoms began and how often they occur - whether he has a history of recurrent UTIs - what medications he takes, both prescription and over the counter - how much liquid he typically drinks each day - whether he consumes caffeine and alcohol - about his general medical history, including any significant illnesses or surgeries + +Physical Exam + +A physical exam may help diagnose benign prostatic hyperplasia. During a physical exam, a health care provider most often + +- examines a patients body, which can include checking for - discharge from the urethra - enlarged or tender lymph nodes in the groin - a swollen or tender scrotum - taps on specific areas of the patients body - performs a digital rectal exam + +A digital rectal exam, or rectal exam, is a physical exam of the prostate. To perform the exam, the health care provider asks the man to bend over a table or lie on his side while holding his knees close to his chest. The health care provider slides a gloved, lubricated finger into the rectum and feels the part of the prostate that lies next to the rectum. The man may feel slight, brief discomfort during the rectal exam. A health care provider most often performs a rectal exam during an office visit, and men do not require anesthesia. The exam helps the health care provider see if the prostate is enlarged or tender or has any abnormalities that require more testing. + +Many health care providers perform a rectal exam as part of a routine physical exam for men age 40 or older, whether or not they have urinary problems. + +Medical Tests + +A health care provider may refer men to a urologista doctor who specializes in urinary problems and the male reproductive systemthough the health care provider most often diagnoses benign prostatic hyperplasia on the basis of symptoms and a digital rectal exam. A urologist uses medical tests to help diagnose lower urinary tract problems related to benign prostatic hyperplasia and recommend treatment. Medical tests may include + +- urinalysis - a prostate-specific antigen (PSA) blood test - urodynamic tests - cystoscopy - transrectal ultrasound - biopsy + +Urinalysis. Urinalysis involves testing a urine sample. The patient collects a urine sample in a special container in a health care providers office or a commercial facility. A health care provider tests the sample during an office visit or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color to indicate signs of infection in urine. + +PSA blood test. A health care provider may draw blood for a PSA test during an office visit or in a commercial facility and send the sample to a lab for analysis. Prostate cells create a protein called PSA. Men who have prostate cancer may have a higher amount of PSA in their blood. However, a high PSA level does not necessarily indicate prostate cancer. In fact, benign prostatic hyperplasia, prostate infections, inflammation, aging, and normal fluctuations often cause high PSA levels. Much remains unknown about how to interpret a PSA blood test, the tests ability to discriminate between cancer and prostate conditions such as benign prostatic hyperplasia, and the best course of action to take if the PSA level is high. + +Urodynamic tests. Urodynamic tests include a variety of procedures that look at how well the bladder and urethra store and release urine. A health care provider performs urodynamic tests during an office visit or in an outpatient center or a hospital. Some urodynamic tests do not require anesthesia; others may require local anesthesia. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely and may include the following: + +- uroflowmetry, which measures how rapidly the bladder releases urine - postvoid residual measurement, which evaluates how much urine remains in the bladder after urination - reduced urine flow or residual urine in the bladder, which often suggests urine blockage due to benign prostatic hyperplasia + +More information is provided in the NIDDK health topic, Urodynamic Testing. + +Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument, called a cystoscope, to look inside the urethra and bladder. A urologist inserts the cystoscope through the opening at the tip of the penis and into the lower urinary tract. A urologist performs cystoscopy during an office visit or in an outpatient center or a hospital. The urologist will give the patient local anesthesia; however, in some cases, the patient may require sedation and regional or general anesthesia. A urologist may use cystoscopy to look for blockage or stones in the urinary tract. + +More information is provided in the NIDDK health topic, Cystoscopy and Ureteroscopy. + +Transrectal ultrasound. Transrectal ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The health care provider can move the transducer to different angles to make it possible to examine different organs. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; the patient does not require anesthesia. Urologists most often use transrectal ultrasound to examine the prostate. In a transrectal ultrasound, the technician inserts a transducer slightly larger than a pen into the mans rectum, next to the prostate. The ultrasound image shows the size of the prostate and any abnormalities, such as tumors. Transrectal ultrasound cannot reliably diagnose prostate cancer. + +Biopsy. Biopsy is a procedure that involves taking a small piece of prostate tissue for examination with a microscope. A urologist performs the biopsy in an outpatient center or a hospital. The urologist will give the patient light sedation and local anesthetic; however, in some cases, the patient will require general anesthesia. The urologist uses imaging techniques such as ultrasound, a computerized tomography scan, or magnetic resonance imaging to guide the biopsy needle into the prostate. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the prostate tissue in a lab. The test can show whether prostate cancer is present. + +More information is provided in the NIDDK health topic, Medical Tests for Prostate Problems.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Treatment options for benign prostatic hyperplasia may include + +- lifestyle changes - medications - minimally invasive procedures - surgery + +A health care provider treats benign prostatic hyperplasia based on the severity of symptoms, how much the symptoms affect a mans daily life, and a mans preferences. + +Men may not need treatment for a mildly enlarged prostate unless their symptoms are bothersome and affecting their quality of life. In these cases, instead of treatment, a urologist may recommend regular checkups. If benign prostatic hyperplasia symptoms become bothersome or present a health risk, a urologist most often recommends treatment. + +Lifestyle Changes + +A health care provider may recommend lifestyle changes for men whose symptoms are mild or slightly bothersome. Lifestyle changes can include + +- reducing intake of liquids, particularly before going out in public or before periods of sleep - avoiding or reducing intake of caffeinated beverages and alcohol - avoiding or monitoring the use of medications such as decongestants, antihistamines, antidepressants, and diuretics - training the bladder to hold more urine for longer periods - exercising pelvic floor muscles - preventing or treating constipation + +Medications + +A health care provider or urologist may prescribe medications that stop the growth of or shrink the prostate or reduce symptoms associated with benign prostatic hyperplasia: + +- alpha blockers - phosphodiesterase-5 inhibitors - 5-alpha reductase inhibitors - combination medications + +Alpha blockers. These medications relax the smooth muscles of the prostate and bladder neck to improve urine flow and reduce bladder blockage: + +- terazosin (Hytrin) - doxazosin (Cardura) - tamsulosin (Flomax) - alfuzosin (Uroxatral) - silodosin (Rapaflo) + +Phosphodiesterase-5 inhibitors. Urologists prescribe these medications mainly for erectile dysfunction. Tadalafil (Cialis) belongs to this class of medications and can reduce lower urinary tract symptoms by relaxing smooth muscles in the lower urinary tract. Researchers are working to determine the role of erectile dysfunction drugs in the long-term treatment of benign prostatic hyperplasia. + +5-alpha reductase inhibitors. These medications block the production of DHT, which accumulates in the prostate and may cause prostate growth: + +- finasteride (Proscar) - dutasteride (Avodart) + +These medications can prevent progression of prostate growth or actually shrink the prostate in some men. Finasteride and dutasteride act more slowly than alpha blockers and are useful for only moderately enlarged prostates. + +Combination medications. Several studies, such as the Medical Therapy of Prostatic Symptoms (MTOPS) study, have shown that combining two classes of medications, instead of using just one, can more effectively improve symptoms, urinary flow, and quality of life. The combinations include + +- finasteride and doxazosin - dutasteride and tamsulosin (Jalyn), a combination of both medications that is available in a single tablet - alpha blockers and antimuscarinics + +A urologist may prescribe a combination of alpha blockers and antimuscarinics for patients with overactive bladder symptoms. Overactive bladder is a condition in which the bladder muscles contract uncontrollably and cause urinary frequency, urinary urgency, and urinary incontinence. Antimuscarinics are a class of medications that relax the bladder muscles. + +Minimally Invasive Procedures + +Researchers have developed a number of minimally invasive procedures that relieve benign prostatic hyperplasia symptoms when medications prove ineffective. These procedures include + +- transurethral needle ablation - transurethral microwave thermotherapy - high-intensity focused ultrasound - transurethral electrovaporization - water-induced thermotherapy - prostatic stent insertion + +Minimally invasive procedures can destroy enlarged prostate tissue or widen the urethra, which can help relieve blockage and urinary retention caused by benign prostatic hyperplasia. + +Urologists perform minimally invasive procedures using the transurethral method, which involves inserting a cathetera thin, flexible tubeor cystoscope through the urethra to reach the prostate. These procedures may require local, regional, or general anesthesia. Although destroying troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue destruction does not cure benign prostatic hyperplasia. A urologist will decide which procedure to perform based on the mans symptoms and overall health. + +Transurethral needle ablation. This procedure uses heat generated by radiofrequency energy to destroy prostate tissue. A urologist inserts a cystoscope through the urethra to the prostate. A urologist then inserts small needles through the end of the cystoscope into the prostate. The needles send radiofrequency energy that heats and destroys selected portions of prostate tissue. Shields protect the urethra from heat damage. + +Transurethral microwave thermotherapy. This procedure uses microwaves to destroy prostate tissue. A urologist inserts a catheter through the urethra to the prostate, and a device called an antenna sends microwaves through the catheter to heat selected portions of the prostate. The temperature becomes high enough inside the prostate to destroy enlarged tissue. A cooling system protects the urinary tract from heat damage during the procedure. + +High-intensity focused ultrasound. For this procedure, a urologist inserts a special ultrasound probe into the rectum, near the prostate. Ultrasound waves from the probe heat and destroy enlarged prostate tissue. + +Transurethral electrovaporization. For this procedure, a urologist inserts a tubelike instrument called a resectoscope through the urethra to reach the prostate. An electrode attached to the resectoscope moves across the surface of the prostate and transmits an electric current that vaporizes prostate tissue. The vaporizing effect penetrates below the surface area being treated and seals blood vessels, which reduces the risk of bleeding. + +Water-induced thermotherapy. This procedure uses heated water to destroy prostate tissue. A urologist inserts a catheter into the urethra so that a treatment balloon rests in the middle of the prostate. Heated water flows through the catheter into the treatment balloon, which heats and destroys the surrounding prostate tissue. The treatment balloon can target a specific region of the prostate, while surrounding tissues in the urethra and bladder remain protected. + +Prostatic stent insertion. This procedure involves a urologist inserting a small device called a prostatic stent through the urethra to the area narrowed by the enlarged prostate. Once in place, the stent expands like a spring, and it pushes back the prostate tissue, widening the urethra. Prostatic stents may be temporary or permanent. Urologists generally use prostatic stents in men who may not tolerate or be suitable for other procedures. + +Surgery + +For long-term treatment of benign prostatic hyperplasia, a urologist may recommend removing enlarged prostate tissue or making cuts in the prostate to widen the urethra. Urologists recommend surgery when + +- medications and minimally invasive procedures are ineffective - symptoms are particularly bothersome or severe - complications arise + +Although removing troublesome prostate tissue relieves many benign prostatic hyperplasia symptoms, tissue removal does not cure benign prostatic hyperplasia. + +Surgery to remove enlarged prostate tissue includes + +- transurethral resection of the prostate (TURP) - laser surgery - open prostatectomy - transurethral incision of the prostate (TUIP) + +A urologist performs these surgeries, except for open prostatectomy, using the transurethral method. Men who have these surgical procedures require local, regional, or general anesthesia and may need to stay in the hospital. + +The urologist may prescribe antibiotics before or soon after surgery to prevent infection. Some urologists prescribe antibiotics only when an infection occurs. + +Immediately after benign prostatic hyperplasia surgery, a urologist may insert a special catheter, called a Foley catheter, through the opening of the penis to drain urine from the bladder into a drainage pouch. + +TURP. With TURP, a urologist inserts a resectoscope through the urethra to reach the prostate and cuts pieces of enlarged prostate tissue with a wire loop. Special fluid carries the tissue pieces into the bladder, and the urologist flushes them out at the end of the procedure. TURP is the most common surgery for benign prostatic hyperplasia and considered the gold standard for treating blockage of the urethra due to benign prostatic hyperplasia. + +Laser surgery. With this surgery, a urologist uses a high-energy laser to destroy prostate tissue. The urologist uses a cystoscope to pass a laser fiber through the urethra into the prostate. The laser destroys the enlarged tissue. The risk of bleeding is lower than in TURP and TUIP because the laser seals blood vessels as it cuts through the prostate tissue. However, laser surgery may not effectively treat greatly enlarged prostates. + +Open prostatectomy. In an open prostatectomy, a urologist makes an incision, or cut, through the skin to reach the prostate. The urologist can remove all or part of the prostate through the incision. This surgery is used most often when the prostate is greatly enlarged, complications occur, or the bladder is damaged and needs repair. Open prostatectomy requires general anesthesia, a longer hospital stay than other surgical procedures for benign prostatic hyperplasia, and a longer rehabilitation period. The three open prostatectomy procedures are retropubic prostatectomy, suprapubic prostatectomy, and perineal prostatectomy. The recovery period for open prostatectomy is different for each man who undergoes the procedure. However, it typically takes anywhere from 3 to 6 weeks.4 + +TUIP. A TUIP is a surgical procedure to widen the urethra. During a TUIP, the urologist inserts a cystoscope and an instrument that uses an electric current or a laser beam through the urethra to reach the prostate. The urologist widens the urethra by making a few small cuts in the prostate and in the bladder neck. Some urologists believe that TUIP gives the same relief as TURP except with less risk of side effects. + +After surgery, the prostate, urethra, and surrounding tissues may be irritated and swollen, causing urinary retention. To prevent urinary retention, a urologist inserts a Foley catheter so urine can drain freely out of the bladder. A Foley catheter has a balloon on the end that the urologist inserts into the bladder. Once the balloon is inside the bladder, the urologist fills it with sterile water to keep the catheter in place. Men who undergo minimally invasive procedures may not need a Foley catheter. + +The Foley catheter most often remains in place for several days. Sometimes, the Foley catheter causes recurring, painful, difficult-to-control bladder spasms the day after surgery. However, these spasms will eventually stop. A urologist may prescribe medications to relax bladder muscles and prevent bladder spasms. These medications include + +- oxybutynin chloride (Ditropan) - solifenacin (VESIcare) - darifenacin (Enablex) - tolterodine (Detrol) - hyoscyamine (Levsin) - propantheline bromide (Pro-Banthine)",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What are the treatments for Prostate Enlargement: Benign Prostatic Hyperplasia ?,"The complications of benign prostatic hyperplasia treatment depend on the type of treatment. + +Medications + +Medications used to treat benign prostatic hyperplasia may have side effects that sometimes can be serious. Men who are prescribed medications to treat benign prostatic hyperplasia should discuss possible side effects with a health care provider before taking the medications. Men who experience the following side effects should contact a health care provider right away or get emergency medical care: + +- hives - rash - itching - shortness of breath - rapid, pounding, or irregular heartbeat - painful erection of the penis that lasts for hours - swelling of the eyes, face, tongue, lips, throat, arms, hands, feet, ankles, or lower legs - difficulty breathing or swallowing - chest pain - dizziness or fainting when standing up suddenly - sudden decrease or loss of vision - blurred vision - sudden decrease or loss of hearing - chest pain, dizziness, or nausea during sexual activity + +These side effects are mostly related to phosphodiesterase-5 inhibitors. Side effects related to alpha blockers include + +- dizziness or fainting when standing up suddenly - decreased sexual drive - problems with ejaculation + +Minimally Invasive Procedures + +Complications after minimally invasive procedures may include + +- UTIs - painful urination - difficulty urinating - an urgent or a frequent need to urinate - urinary incontinence - blood in the urine for several days after the procedure - sexual dysfunction - chronic prostatitislong-lasting inflammation of the prostate - recurring problems such as urinary retention and UTIs + +Most of the complications of minimally invasive procedures go away within a few days or weeks. Minimally invasive procedures are less likely to have complications than surgery. + +Surgery + +Complications after surgery may include + +- problems urinating - urinary incontinence - bleeding and blood clots - infection - scar tissue - sexual dysfunction - recurring problems such as urinary retention and UTIs + +Problems urinating. Men may initially have painful urination or difficulty urinating. They may experience urinary frequency, urgency, or retention. These problems will gradually lessen and, after a couple of months, urination will be easier and less frequent. + +Urinary incontinence. As the bladder returns to normal, men may have some temporary problems controlling urination. However, long-term urinary incontinence rarely occurs. The longer urinary problems existed before surgery, the longer it takes for the bladder to regain its full function after surgery. + +Bleeding and blood clots. After benign prostatic hyperplasia surgery, the prostate or tissues around it may bleed. Blood or blood clots may appear in urine. Some bleeding is normal and should clear up within several days. However, men should contact a health care provider right away if + +- they experience pain or discomfort - their urine contains large clots - their urine is so red it is difficult to see through + +Blood clots from benign prostatic hyperplasia surgery can pass into the bloodstream and lodge in other parts of the bodymost often the legs. Men should contact a health care provider right away if they experience swelling or discomfort in their legs. + +Infection. Use of a Foley catheter after benign prostatic hyperplasia surgery may increase the risk of a UTI. Anesthesia during surgery may cause urinary retention and also increase the risk of a UTI. In addition, the incision site of an open prostatectomy may become infected. A health care provider will prescribe antibiotics to treat infections. + +Scar tissue. In the year after the original surgery, scar tissue sometimes forms and requires surgical treatment. Scar tissue may form in the urethra and cause it to narrow. A urologist can solve this problem during an office visit by stretching the urethra. Rarely, the opening of the bladder becomes scarred and shrinks, causing blockage. This problem may require a surgical procedure similar to TUIP. + +Sexual dysfunction. Some men may experience temporary problems with sexual function after benign prostatic hyperplasia surgery. The length of time for restored sexual function depends on the type of benign prostatic hyperplasia surgery performed and how long symptoms were present before surgery. Many men have found that concerns about sexual function can interfere with sex as much as the benign prostatic hyperplasia surgery itself. Understanding the surgical procedure and talking about concerns with a health care provider before surgery often help men regain sexual function earlier. Many men find it helpful to talk with a counselor during the adjustment period after surgery. Even though it can take a while for sexual function to fully return, with time, most men can enjoy sex again. + +Most health care providers agree that if men with benign prostatic hyperplasia were able to maintain an erection before surgery, they will probably be able to have erections afterward. Surgery rarely causes a loss of erectile function. However, benign prostatic hyperplasia surgery most often cannot restore function that was lost before the procedure. Some men find a slight difference in the quality of orgasm after surgery. However, most report no difference. + +Prostate surgery may make men sterile, or unable to father children, by causing retrograde ejaculationthe backward flow of semen into the bladder. Men flush the semen out of the bladder when they urinate. In some cases, medications such as pseudoephedrine, found in many cold medications, or imipramine can treat retrograde ejaculation. These medications improve muscle tone at the bladder neck and keep semen from entering the bladder. + +Recurring problems. Men may require further treatment if prostate problems, including benign prostatic hyperplasia, return. Problems may arise when treatments for benign prostatic hyperplasia leave a good part of the prostate intact. About 10 percent of men treated with TURP or TUIP require additional surgery within 5 years. About 2 percent of men who have an open prostatectomy require additional surgery within 5 years.2 + +In the years after benign prostatic hyperplasia surgery or treatment, men should continue having a digital rectal exam once a year and have any symptoms checked by a health care provider. In some cases, the health care provider may recommend a digital rectal exam and checkup more than once a year.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +How to prevent Prostate Enlargement: Benign Prostatic Hyperplasia ?,Researchers have not found a way to prevent benign prostatic hyperplasia. Men with risk factors for benign prostatic hyperplasia should talk with a health care provider about any lower urinary tract symptoms and the need for regular prostate exams. Men can get early treatment and minimize benign prostatic hyperplasia effects by recognizing lower urinary tract symptoms and identifying an enlarged prostate.,NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about what diet is right for them.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ?,"- Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. - The prostate is a walnut-shaped gland that is part of the male reproductive system. - The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. - Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. - Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include - urinary frequencyurination eight or more times a day - urinary urgencythe inability to delay urination - trouble starting a urine stream - a weak or an interrupted urine stream - dribbling at the end of urination - nocturiafrequent urination during periods of sleep - urinary retentionthe inability to empty the bladder completely - urinary incontinencethe accidental loss of urine - pain after ejaculation or during urination - urine that has an unusual color or smell - The complications of benign prostatic hyperplasia may include - acute urinary retention - chronic, or long lasting, urinary retention - blood in the urine - urinary tract infections (UTIs) - bladder damage - kidney damage - bladder stones - A health care provider diagnoses benign prostatic hyperplasia based on - a personal and family medical history - a physical exam - medical tests - Treatment options for benign prostatic hyperplasia may include - lifestyle changes - medications - minimally invasive procedures - surgery - The complications of benign prostatic hyperplasia treatment depend on the type of treatment. - Researchers have not found a way to prevent benign prostatic hyperplasia. - Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia.",NIDDK,Prostate Enlargement: Benign Prostatic Hyperplasia +What is (are) Causes of Diabetes ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. + +Insulin is made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. + +If beta cells dont produce enough insulin, or the body doesnt respond to the insulin that is present, glucose builds up in the blood instead of being absorbed by cells in the body, leading to prediabetes or diabetes. Prediabetes is a condition in which blood glucose levels or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough to be diagnosed as diabetes. In diabetes, the bodys cells are starved of energy despite high blood glucose levels. + +Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. No one is certain what starts the processes that cause diabetes, but scientists believe genes and environmental factors interact to cause diabetes in most cases. + +The two main types of diabetes are type 1 diabetes and type 2 diabetes. A third type, gestational diabetes, develops only during pregnancy. Other types of diabetes are caused by defects in specific genes, diseases of the pancreas, certain drugs or chemicals, infections, and other conditions. Some people show signs of both type 1 and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. + +Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. + +Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. + +Genetic Susceptibility + +Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. + +Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. + +While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. + +Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. + +Autoimmune Destruction of Beta Cells + +In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. + +Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. + +Environmental Factors + +Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. + +Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. + +Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. + +Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years. + +Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes. + +Genetic Susceptibility + +Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites. + +Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes. + +Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk. + +Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes. + +Obesity and Physical Inactivity + +Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present. + +An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels. + +The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2 + +Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program. + +Insulin Resistance + +Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes. + +Abnormal Glucose Production by the Liver + +In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver. + +The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation + +A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels: + +- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels. + +- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. + +- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids. + +Metabolic Syndrome + +Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including + +- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood + +Cell Signaling and Regulation + +Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy. + +Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance. + +This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments. + +Beta Cell Dysfunction + +Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity. + +Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life. + +Risk Factors for Type 2 Diabetes + +People who develop type 2 diabetes are more likely to have the following characteristics: + +- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD + +The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Insulin Resistance and Beta Cell Dysfunction + +Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs. + +As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. + +Family History + +Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes. + +Future Risk of Type 2 Diabetes + +Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter. + +Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What to do for Causes of Diabetes ?,"- Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions.",NIDDK,Causes of Diabetes +What is (are) Dumping Syndrome ?,"Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur: + +- early dumping syndromeoccurs 10 to 30 minutes after a meal - late dumping syndromeoccurs 2 to 3 hours after a meal",NIDDK,Dumping Syndrome +What is (are) Dumping Syndrome ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. The upper GI tract includes the mouth, esophagus, stomach, duodenum, and small intestine. The esophagus carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids into the intestine, which then absorbs needed nutrients. Two digestive organs, the liver and the pancreas, produce digestive juices that reach the small intestine through small tubes called ducts. + +The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus.",NIDDK,Dumping Syndrome +What causes Dumping Syndrome ?,"Dumping syndrome is caused by problems with the storage of food particles in the stomach and emptying of particles into the duodenum. Early dumping syndrome results from rapid movement of fluid into the intestine following a sudden addition of a large amount of food from the stomach. Late dumping syndrome results from rapid movement of sugar into the intestine, which raises the body's blood glucose level and causes the pancreas to increase its release of the hormone insulin. The increased release of insulin causes a rapid drop in blood glucose levels, a condition known as hypoglycemia, or low blood sugar.",NIDDK,Dumping Syndrome +What are the symptoms of Dumping Syndrome ?,"The symptoms of early and late dumping syndrome are different and vary from person to person. Early dumping syndrome symptoms may include + +- nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushing, or blushing of the face or skin - rapid or irregular heartbeat + +- hypoglycemia - sweating - weakness - rapid or irregular heartbeat - flushing - dizziness + +About 75 percent of people with dumping syndrome report symptoms of early dumping syndrome and about 25 percent report symptoms of late dumping syndrome. Some people have symptoms of both types of dumping syndrome.1",NIDDK,Dumping Syndrome +How to diagnose Dumping Syndrome ?,"A health care provider will diagnose dumping syndrome primarily on the basis of symptoms. A scoring system helps differentiate dumping syndrome from other GI problems. The scoring system assigns points to each symptom and the total points result in a score. A person with a score above 7 likely has dumping syndrome. + +The following tests may confirm dumping syndrome and exclude other conditions with similar symptoms: + +- A modified oral glucose tolerance test checks how well insulin works with tissues to absorb glucose. A health care provider performs the test during an office visit or in a commercial facility and sends the blood samples to a lab for analysis. The person should fasteat or drink nothing except waterfor at least 8 hours before the test. The health care provider will measure blood glucose concentration, hematocritthe amount of red blood cells in the bloodpulse rate, and blood pressure before the test begins. After the initial measurements, the person drinks a glucose solution. The health care provider repeats the initial measurements immediately and at 30-minute intervals for up to 180 minutes. A health care provider often confirms dumping syndrome in people with - low blood sugar between 120 and 180 minutes after drinking the solution - an increase in hematocrit of more than 3 percent at 30 minutes - a rise in pulse rate of more than 10 beats per minute after 30 minutes - A gastric emptying scintigraphy test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs this test in a radiology center or hospital, and a radiologista doctor who specializes in medical imaginginterprets the results. Anesthesia is not needed. An external camera scans the abdomen to locate the radioactive material. The radiologist measures the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. The test can help confirm a diagnosis of dumping syndrome. + +- An upper GI endoscopy involves using an endoscopea small, flexible tube with a lightto see the upper GI tract. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive general anesthesia or a liquid anesthetic that is gargled or sprayed on the back of the throat. If the person receives general anesthesia, a health care provider will place an intravenous (IV) needle in a vein in the arm. The test may show ulcers, swelling of the stomach lining, or cancer. - An upper GI series examines the small intestine. An x-ray technician performs the test at a hospital or an outpatient center and a radiologist interprets the images. Anesthesia is not needed. No eating or drinking is allowed before the procedure, as directed by the health care staff. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the small intestine, making signs of a blockage or other complications of gastric surgery show up more clearly on x rays.",NIDDK,Dumping Syndrome +What are the treatments for Dumping Syndrome ?,"Treatment for dumping syndrome includes changes in eating, diet, and nutrition; medication; and, in some cases, surgery. Many people with dumping syndrome have mild symptoms that improve over time with simple dietary changes.",NIDDK,Dumping Syndrome +What to do for Dumping Syndrome ?,"The first step to minimizing symptoms of dumping syndrome involves changes in eating, diet, and nutrition, and may include + +- eating five or six small meals a day instead of three larger meals - delaying liquid intake until at least 30 minutes after a meal - increasing intake of protein, fiber, and complex carbohydratesfound in starchy foods such as oatmeal and rice - avoiding simple sugars such as table sugar, which can be found in candy, syrup, sodas, and juice beverages - increasing the thickness of food by adding pectin or guar gumplant extracts used as thickening agents + +Some people find that lying down for 30 minutes after meals also helps reduce symptoms. + +Medication + +A health care provider may prescribe octreotide acetate (Sandostatin) to treat dumping syndrome symptoms. The medication works by slowing gastric emptying and inhibiting the release of insulin and other GI hormones. Octreotide comes in short- and long-acting formulas. The short-acting formula is injected subcutaneouslyunder the skinor intravenouslyinto a veintwo to four times a day. A health care provider may perform the injections or may train the patient or patient's friend or relative to perform the injections. A health care provider injects the long-acting formula into the buttocks muscles once every 4 weeks. Complications of octreotide treatment include increased or decreased blood glucose levels, pain at the injection site, gallstones, and fatty, foul-smelling stools. + +Surgery + +A person may need surgery if dumping syndrome is caused by previous gastric surgery or if the condition is not responsive to other treatments. For most people, the type of surgery depends on the type of gastric surgery performed previously. However, surgery to correct dumping syndrome often has unsuccessful results.",NIDDK,Dumping Syndrome +What to do for Dumping Syndrome ?,"- Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. - Dumping syndrome has two forms, based on when symptoms occur: - early dumping syndromeoccurs 10 to 30 minutes after a meal - late dumping syndromeoccurs 2 to 3 hours after a meal - People who have had surgery to remove or bypass a significant part of the stomach are more likely to develop dumping syndrome. Other conditions that impair how the stomach stores and empties itself of food, such as nerve damage caused by esophageal surgery, can also cause dumping syndrome. - Early dumping syndrome symptoms include - nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushing, or blushing of the face or skin - rapid or irregular heartbeat - The symptoms of late dumping syndrome include - hypoglycemia - sweating - weakness - rapid or irregular heartbeat - flushing - dizziness - Treatment for dumping syndrome includes changes in eating, diet, and nutrition; medication; and, in some cases, surgery. Many people with dumping syndrome have mild symptoms that improve over time with simple dietary changes.",NIDDK,Dumping Syndrome +What is (are) Renal Tubular Acidosis ?,"Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. + +The body's cells use chemical reactions to carry out tasks such as turning food into energy and repairing tissue. These chemical reactions generate acids. Some acid in the blood is normal, but too much acidacidosiscan disturb many bodily functions. Healthy kidneys help maintain acid-base balance by excreting acids into the urine and returning bicarbonatean alkaline, or base, substanceto the blood. This ""reclaimed"" bicarbonate neutralizes much of the acid that is created when food is broken down in the body. The movement of substances like bicarbonate between the blood and structures in the kidneys is called transport. + +One researcher has theorized that Charles Dickens may have been describing a child with RTA in the character of Tiny Tim from A Christmas Carol. Tiny Tim's small stature, malformed limbs, and periods of weakness are all possible consequences of the chemical imbalance caused by RTA.1 In the story, Tiny Tim recovers when he receives medical treatment, which would likely have included sodium bicarbonate and sodium citrate, alkaline agents to neutralize acidic blood. The good news is that medical treatment can indeed reverse the effects of RTA.",NIDDK,Renal Tubular Acidosis +What is (are) Renal Tubular Acidosis ?,"Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. + +The body's cells use chemical reactions to carry out tasks such as turning food into energy and repairing tissue. These chemical reactions generate acids. Some acid in the blood is normal, but too much acidacidosiscan disturb many bodily functions. Healthy kidneys help maintain acid-base balance by excreting acids into the urine and returning bicarbonatean alkaline, or base, substanceto the blood. This ""reclaimed"" bicarbonate neutralizes much of the acid that is created when food is broken down in the body. The movement of substances like bicarbonate between the blood and structures in the kidneys is called transport. + +One researcher has theorized that Charles Dickens may have been describing a child with RTA in the character of Tiny Tim from A Christmas Carol. Tiny Tim's small stature, malformed limbs, and periods of weakness are all possible consequences of the chemical imbalance caused by RTA.1 In the story, Tiny Tim recovers when he receives medical treatment, which would likely have included sodium bicarbonate and sodium citrate, alkaline agents to neutralize acidic blood. The good news is that medical treatment can indeed reverse the effects of RTA.",NIDDK,Renal Tubular Acidosis +How to diagnose Renal Tubular Acidosis ?,"To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.",NIDDK,Renal Tubular Acidosis +How to diagnose Renal Tubular Acidosis ?,"To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.",NIDDK,Renal Tubular Acidosis +What is (are) Renal Tubular Acidosis ?,"Type 1: Classical Distal RTA + +Type 1 is also called classical distal RTA. ""Distal,"" which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine. + +This disorder may be inherited as a primary disorder or may be one symptom of a disease that affects many parts of the body. Researchers have discovered abnormal genes responsible for the inherited forms of the disease. More often, however, classical distal RTA occurs as a result of systemic diseasesdiseases that affect many organ systemslike the autoimmune disorders Sjgren's syndrome and lupus, which also attack the distal tubule. + +Other diseases and conditions associated with classical distal RTA include sickle cell anemia, hyperparathyroidism, hyperthyroidism, chronic active hepatitis, primary biliary cirrhosis, a hereditary form of deafness, analgesic nephropathy, rejection of a transplanted kidney, renal medullary cystic disease, obstructive uropathy, and chronic urinary tract infections. Many of these conditions cause abnormal calcium deposits to build up in the kidney and impair distal tubule function. + +A major consequence of classical distal RTA is a low blood potassium level. The level drops if the kidneys excrete too much potassium into urine instead of returning it to the blood supply. Because potassium helps regulate nerve and muscle health and heart rate, low levels can cause extreme weakness, irregular heartbeat, paralysis, and even death. + +Untreated classical distal RTA causes growth retardation in children and progressive kidney and bone disease in adults. Restoring normal growth and preventing kidney stones are the major goals of therapy. If acidosis is corrected with sodium bicarbonate or sodium citrate, then low blood-potassium, salt depletion, and calcium leakage into urine will be corrected. This alkali therapy also helps decrease the development of kidney stones and stabilizes kidney function so kidney failure does not progress. Infants may need potassium supplements, but older children and adults rarely do because alkali therapy prevents the kidney from excreting potassium into the urine. + +Type 2: Proximal RTA + +Type 2 is also called proximal RTA. The word ""proximal,"" which means near, indicates that the defect is closer to the point where fluid and wastes from the blood enter the tubule. + +This form of RTA occurs most frequently in children as part of a disorder called Fanconi's syndrome. The features of Fanconi's syndrome include the abnormal excretion of glucose, amino acids, citrate, and phosphate into the urine, as well as vitamin D deficiency and low blood-potassium. + +Proximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use of nutrients. Examples include the rare disease cystinosis, in which cystine crystals are deposited in bones and other tissues; hereditary fructose intolerance; and Wilson disease. + +Proximal RTA also occurs in patients treated with ifosfamide, a drug used in chemotherapy. A few older drugssuch as acetazolamide or outdated tetracyclinecan also cause proximal RTA. In adults, proximal RTA may complicate diseases like multiple myeloma, or it may occur in people who experience chronic rejection of a transplanted kidney. + +When possible, identifying and correcting the underlying causes are important steps in treating the acquired forms of proximal RTA. The diagnosis is based on the chemical analysis of blood and urine samples. Children with this disorder would likely receive large doses of an oral alkali, such as sodium bicarbonate or potassium citrate, to treat acidosis and prevent bone disorders, kidney stones, and growth failure. Correcting acidosis and low potassium levels restores normal growth patterns, allowing bone to mature while preventing further renal disease. Vitamin D supplements may also be needed to help prevent bone problems. + +Type 3 + +Type 3 is rarely used as a classification because it is now thought to be a combination of type 1 and type 2. + +Type 4: Hyperkalemic RTA + +Type 4 is also called hyperkalemic RTA and is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. Either low potassiumhypokalemiaor high potassiumhyperkalemiacan be a problem because potassium is important in regulating heart rate. + +Type 4 RTA occurs when blood levels of the hormone aldosterone are low or when the kidneys do not respond to it. Aldosterone directs the kidneys to regulate the levels of sodium, potassium, and chloride in the blood. Type 4 RTA also occurs when the tubule transport of electrolytes such as sodium, chloride, and potassium is impaired due to an inherited disorder or the use of certain drugs. + +Drugs that may cause type 4 RTA include + +- diuretics used to treat congestive heart failure such as spironolactone or eplerenone - blood pressure drugs called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) - the antibiotic trimethoprim - the antibiotic pentamidine, which is used to treat pneumonia - an agent called heparin that keeps blood from clotting - a class of painkillers called nonsteroidal anti-inflammatory drugs (NSAIDs) - some immunosuppressive drugs used to prevent rejection + +Type 4 RTA may also result from diseases that alter kidney structure and function such as diabetic nephropathy, HIV/AIDS, Addison's disease, sickle cell disease, urinary tract obstruction, lupus, amyloidosis, removal or destruction of both adrenal glands, and kidney transplant rejection. + +For people who produce aldosterone but cannot use it, researchers have identified the genetic basis for their body's resistance to the hormone. To treat type 4 RTA successfully, patients may require alkaline agents to correct acidosis and medication to lower the potassium in their blood. + +If treated early, most people with any type of RTA will not develop permanent kidney failure. Therefore, the goal is early recognition and adequate therapy, which will need to be maintained and monitored throughout the person's lifetime.",NIDDK,Renal Tubular Acidosis +What is (are) Renal Tubular Acidosis ?,"Type 1: Classical Distal RTA + +Type 1 is also called classical distal RTA. ""Distal,"" which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine. + +This disorder may be inherited as a primary disorder or may be one symptom of a disease that affects many parts of the body. Researchers have discovered abnormal genes responsible for the inherited forms of the disease. More often, however, classical distal RTA occurs as a result of systemic diseasesdiseases that affect many organ systemslike the autoimmune disorders Sjgren's syndrome and lupus, which also attack the distal tubule. + +Other diseases and conditions associated with classical distal RTA include sickle cell anemia, hyperparathyroidism, hyperthyroidism, chronic active hepatitis, primary biliary cirrhosis, a hereditary form of deafness, analgesic nephropathy, rejection of a transplanted kidney, renal medullary cystic disease, obstructive uropathy, and chronic urinary tract infections. Many of these conditions cause abnormal calcium deposits to build up in the kidney and impair distal tubule function. + +A major consequence of classical distal RTA is a low blood potassium level. The level drops if the kidneys excrete too much potassium into urine instead of returning it to the blood supply. Because potassium helps regulate nerve and muscle health and heart rate, low levels can cause extreme weakness, irregular heartbeat, paralysis, and even death. + +Untreated classical distal RTA causes growth retardation in children and progressive kidney and bone disease in adults. Restoring normal growth and preventing kidney stones are the major goals of therapy. If acidosis is corrected with sodium bicarbonate or sodium citrate, then low blood-potassium, salt depletion, and calcium leakage into urine will be corrected. This alkali therapy also helps decrease the development of kidney stones and stabilizes kidney function so kidney failure does not progress. Infants may need potassium supplements, but older children and adults rarely do because alkali therapy prevents the kidney from excreting potassium into the urine. + +Type 2: Proximal RTA + +Type 2 is also called proximal RTA. The word ""proximal,"" which means near, indicates that the defect is closer to the point where fluid and wastes from the blood enter the tubule. + +This form of RTA occurs most frequently in children as part of a disorder called Fanconi's syndrome. The features of Fanconi's syndrome include the abnormal excretion of glucose, amino acids, citrate, and phosphate into the urine, as well as vitamin D deficiency and low blood-potassium. + +Proximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use of nutrients. Examples include the rare disease cystinosis, in which cystine crystals are deposited in bones and other tissues; hereditary fructose intolerance; and Wilson disease. + +Proximal RTA also occurs in patients treated with ifosfamide, a drug used in chemotherapy. A few older drugssuch as acetazolamide or outdated tetracyclinecan also cause proximal RTA. In adults, proximal RTA may complicate diseases like multiple myeloma, or it may occur in people who experience chronic rejection of a transplanted kidney. + +When possible, identifying and correcting the underlying causes are important steps in treating the acquired forms of proximal RTA. The diagnosis is based on the chemical analysis of blood and urine samples. Children with this disorder would likely receive large doses of an oral alkali, such as sodium bicarbonate or potassium citrate, to treat acidosis and prevent bone disorders, kidney stones, and growth failure. Correcting acidosis and low potassium levels restores normal growth patterns, allowing bone to mature while preventing further renal disease. Vitamin D supplements may also be needed to help prevent bone problems. + +Type 3 + +Type 3 is rarely used as a classification because it is now thought to be a combination of type 1 and type 2. + +Type 4: Hyperkalemic RTA + +Type 4 is also called hyperkalemic RTA and is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. Either low potassiumhypokalemiaor high potassiumhyperkalemiacan be a problem because potassium is important in regulating heart rate. + +Type 4 RTA occurs when blood levels of the hormone aldosterone are low or when the kidneys do not respond to it. Aldosterone directs the kidneys to regulate the levels of sodium, potassium, and chloride in the blood. Type 4 RTA also occurs when the tubule transport of electrolytes such as sodium, chloride, and potassium is impaired due to an inherited disorder or the use of certain drugs. + +Drugs that may cause type 4 RTA include + +- diuretics used to treat congestive heart failure such as spironolactone or eplerenone - blood pressure drugs called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) - the antibiotic trimethoprim - the antibiotic pentamidine, which is used to treat pneumonia - an agent called heparin that keeps blood from clotting - a class of painkillers called nonsteroidal anti-inflammatory drugs (NSAIDs) - some immunosuppressive drugs used to prevent rejection + +Type 4 RTA may also result from diseases that alter kidney structure and function such as diabetic nephropathy, HIV/AIDS, Addison's disease, sickle cell disease, urinary tract obstruction, lupus, amyloidosis, removal or destruction of both adrenal glands, and kidney transplant rejection. + +For people who produce aldosterone but cannot use it, researchers have identified the genetic basis for their body's resistance to the hormone. To treat type 4 RTA successfully, patients may require alkaline agents to correct acidosis and medication to lower the potassium in their blood. + +If treated early, most people with any type of RTA will not develop permanent kidney failure. Therefore, the goal is early recognition and adequate therapy, which will need to be maintained and monitored throughout the person's lifetime.",NIDDK,Renal Tubular Acidosis +What to do for Renal Tubular Acidosis ?,"- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.",NIDDK,Renal Tubular Acidosis +What to do for Renal Tubular Acidosis ?,"- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.",NIDDK,Renal Tubular Acidosis +What is (are) Kidney Dysplasia ?,"Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. During normal development, two thin tubes of muscle called ureters grow into the kidneys and branch out to form a network of tiny structures called tubules. The tubules collect urine as the fetus grows in the womb. In kidney dysplasia, the tubules fail to branch out completely. Urine that would normally flow through the tubules has nowhere to go. Urine collects inside the affected kidney and forms fluid-filled sacs called cysts. The cysts replace normal kidney tissue and prevent the kidney from functioning. + +Kidney dysplasia can affect one kidney or both kidneys. Babies with severe kidney dysplasia affecting both kidneys generally do not survive birth. Those who do survive may need the following early in life: + +- blood-filtering treatments called dialysis - a kidney transplant + +Children with dysplasia in only one kidney have normal kidney function if the other kidney is unaffected. Those with mild dysplasia of both kidneys may not need dialysis or a kidney transplant for several years. + +Kidney dysplasia is also called renal dysplasia or multicystic dysplastic kidney.",NIDDK,Kidney Dysplasia +What is (are) Kidney Dysplasia ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, which is composed of wastes and extra fluid. Children produce less urine than adultsthe amount they produce depends on their age. The urine flows from the kidneys to the bladder through the two ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. + +The kidneys, ureters, bladder, and urethra are parts of the urinary tract. More information is provided in the NIDDK health topics, the kidneys and the urinary tract.",NIDDK,Kidney Dysplasia +What causes Kidney Dysplasia ?,"Genetic factors can cause kidney dysplasia. Genes pass information from both parents to the child and determine the childs traits. Sometimes, parents may pass a gene that has changed, or mutated, causing kidney dysplasia. + +Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. A syndrome is a group of symptoms or conditions that may seem unrelated yet are thought to have the same genetic cause. A baby with kidney dysplasia due to a genetic syndrome might also have problems of the digestive tract, nervous system, heart and blood vessels, muscles and skeleton, or other parts of the urinary tract. + +A baby may also develop kidney dysplasia if his or her mother takes certain prescription medications during pregnancy, such as some used to treat seizures and high blood pressure. A mothers use of illegal drugs, such as cocaine, during pregnancy may also cause kidney dysplasia in her unborn child.",NIDDK,Kidney Dysplasia +How many people are affected by Kidney Dysplasia ?,"Kidney dysplasia is a common condition. Scientists estimate that kidney dysplasia affects about one in 4,000 babies.1 This estimate may be low because some people with kidney dysplasia are never diagnosed with the condition. About half of the babies diagnosed with this condition have other urinary tract defects.2",NIDDK,Kidney Dysplasia +What are the symptoms of Kidney Dysplasia ?,"Many babies with kidney dysplasia in only one kidney have no signs of the condition. In some cases, the affected kidney may be enlarged at birth and may cause pain.",NIDDK,Kidney Dysplasia +What are the complications of Kidney Dysplasia ?,"The complications of kidney dysplasia can include + +- hydronephrosis of the working kidney. A baby with kidney dysplasia in only one kidney might have other urinary tract defects. When other defects in the urinary tract block the flow of urine, the urine backs up and causes the kidneys and ureters to swell, a condition called hydronephrosis. If left untreated, hydronephrosis can damage the working kidney and reduce its ability to filter blood. Kidney damage may lead to chronic kidney disease (CKD) and kidney failure. - a urinary tract infection (UTI). A urine blockage may increase a babys chance of developing a UTI. Recurring UTIs can also lead to kidney damage. - high blood pressure. - a slightly increased chance of developing kidney cancer. + +More information is provided in the NIDDK health topics, urine blockage in newbornsand UTIs in children.",NIDDK,Kidney Dysplasia +How to diagnose Kidney Dysplasia ?,"Health care providers may be able to diagnose kidney dysplasia during a womans pregnancy using a fetal ultrasound, also called a fetal sonogram. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. Fetal ultrasound is a test done during pregnancy to create images of the fetus in the womb. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and an obstetrician or a radiologist interprets the images. An obstetrician is a doctor who specializes in pregnancy and childbirth. A radiologist is a doctor who specializes in medical imaging. The patientin this case, the fetus motherdoes not need anesthesia for this procedure. The images can show defects in the fetus kidneys and other parts of the urinary tract. + +Health care providers do not always diagnose kidney dysplasia before a baby is born. After birth, health care providers often diagnose kidney dysplasia during an evaluation of the child for a UTI or another medical condition. A health care provider uses ultrasound to diagnose kidney dysplasia after the baby is born.",NIDDK,Kidney Dysplasia +What are the treatments for Kidney Dysplasia ?,"If the condition is limited to one kidney and the baby has no signs of kidney dysplasia, no treatment may be necessary. However, the baby should have regular checkups that include + +- checking blood pressure. - testing blood to measure kidney function. - testing urine for albumin, a protein most often found in blood. Albumin in the urine may be a sign of kidney damage. - performing periodic ultrasounds to monitor the damaged kidney and to make sure the functioning kidney continues to grow and remains healthy.",NIDDK,Kidney Dysplasia +How to prevent Kidney Dysplasia ?,Researchers have not found a way to prevent kidney dysplasia caused by genetic factors or certain genetic syndromes. Pregnant women can prevent kidney dysplasia by avoiding the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care provider before taking any medications during pregnancy.,NIDDK,Kidney Dysplasia +What is the outlook for Kidney Dysplasia ?,"The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. A person with one working kidney, a condition called solitary kidney, can grow normally and may have few, if any, health problems. + +The affected kidney may shrink as the child grows. By age 10,3 the affected kidney may no longer be visible on x-ray or ultrasound. Children and adults with only one working kidney should have regular checkups to test for high blood pressure and kidney damage. A child with urinary tract problems that lead to failure of the working kidney may eventually need dialysis or a kidney transplant. + +More information is provided in the NIDDK health topics, solitary kidney, dialysis, and kidney transplants.",NIDDK,Kidney Dysplasia +What is the outlook for Kidney Dysplasia ?,"The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys + +- is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. Children who live in areas that dont have a pediatric nephrologist available can see a nephrologist who cares for both children and adults. - may eventually need dialysis or a kidney transplant.",NIDDK,Kidney Dysplasia +What to do for Kidney Dysplasia ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing kidney dysplasia.",NIDDK,Kidney Dysplasia +What to do for Kidney Dysplasia ?,"- Kidney dysplasia is a condition in which the internal structures of one or both of a fetus kidneys do not develop normally while in the womb. - Genetic factors can cause kidney dysplasia. - Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. - A baby may also develop kidney dysplasia if his or her mother takes certain prescription medications during pregnancy, such as some used to treat seizures and high blood pressure. - Many babies with kidney dysplasia in only one kidney have no signs of the condition. - Health care providers may be able to diagnose kidney dysplasia during a womans pregnancy using a fetal ultrasound, also called a fetal sonogram. - Health care providers do not always diagnose kidney dysplasia before a baby is born. - If the condition is limited to one kidney and the baby has no signs of kidney dysplasia, no treatment may be necessary. - Researchers have not found a way to prevent kidney dysplasia caused by genetic factors or certain genetic syndromes. - Pregnant women can prevent kidney dysplasia by avoiding the use of certain prescription medications or illegal drugs during pregnancy. - The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. - The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys - is more likely to develop chronic kidney disease (CKD) - needs close follow-up with a pediatric nephrologist - may eventually need dialysis or a kidney transplant",NIDDK,Kidney Dysplasia +What is (are) Viral Gastroenteritis ?,"Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. Viral gastroenteritis causes millions of cases of diarrhea each year. + +Anyone can get viral gastroenteritis and most people recover without any complications, unless they become dehydrated.",NIDDK,Viral Gastroenteritis +What are the symptoms of Viral Gastroenteritis ?,"The main symptoms of viral gastroenteritis are + +- watery diarrhea - vomiting + +Other symptoms include + +- headache - fever - chills - abdominal pain + +Symptoms usually appear within 12 to 48 hours after exposure to a gastroenteritis-causing virus and last for 1 to 3 days. Some viruses cause symptoms that last longer.",NIDDK,Viral Gastroenteritis +What are the complications of Viral Gastroenteritis ?,"Dehydration is the most common complication of viral gastroenteritis. When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. When dehydrated, the body does not have enough fluids to keep the proper balance of important salts or minerals, known as electrolytes. Infants, young children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated. + +The signs of dehydration in adults are + +- excessive thirst - infrequent urination - dark-colored urine - dry skin - lethargy, dizziness, or faintness + +Signs of dehydration in babies and young children are + +- dry mouth and tongue - lack of tears when crying - no wet diapers for 3 hours or more - high fever - unusually cranky or drowsy behavior - sunken eyes, cheeks, or soft spot in the skull + +Also, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released. + +People should talk with a health care provider if they have + +- blood in their stool, which may indicate a bacterial infection - symptoms that are severe or last more than a few days - symptoms of dehydration + +Severe dehydration may require intravenous fluids and hospitalization. Untreated severe dehydration can cause serious health problems such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.",NIDDK,Viral Gastroenteritis +What causes Viral Gastroenteritis ?,"Four types of viruses cause most cases of viral gastroenteritis. + +Rotavirus + +Rotavirus is the leading cause of gastroenteritis among infants and young children. Rotavirus infections are most common in infants 3 to 15 months old. Symptoms usually appear 1 to 3 days after exposure. Rotavirus typically causes vomiting and watery diarrhea for 3 to 7 days, along with fever and abdominal pain. Rotavirus can also infect adults who are in close contact with infected children, but the symptoms in adults are milder. + +Caliciviruses + +Caliciviruses cause infection in people of all ages. Norovirus is the most common calicivirus and the most common cause of viral gastroenteritis in adults. Norovirus is usually responsible for epidemics of viral gastroenteritis. Norovirus outbreaks occur all year but are more frequent from October to April. People infected with norovirus typically experience nausea, vomiting, diarrhea, abdominal cramps, fatigue, headache, and muscle aches. The symptoms usually appear 1 to 2 days after exposure to the virus and last for 1 to 3 days. + +Adenovirus + +Adenovirus mainly infects children younger than 2 years old. Of the 49 types of adenoviruses, one strain affects the gastrointestinal tract, causing vomiting and diarrhea. Symptoms typically appear 8 to 10 days after exposure and last 5 to 12 days. Adenovirus infections occur year-round. + +Astrovirus + +Astrovirus primarily infects infants and young children, but adults may also be infected. This virus causes vomiting and watery diarrhea. Symptoms usually appear 3 to 4 days after exposure and last 2 to 7 days. The symptoms are milder than the symptoms of norovirus or rotavirus infections. Infections occur year-round, but the virus is most active during the winter months. + +Viral gastroenteritis is often mistakenly called stomach flu, but it is not caused by the influenza virus. Some forms of gastroenteritis are caused by bacteria or parasites rather than viruses. More information about bacterial infections is provided in the NIDDK health topic, Foodborne Illnesses fact sheet from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).",NIDDK,Viral Gastroenteritis +How to diagnose Viral Gastroenteritis ?,"Viral gastroenteritis is usually diagnosed based on symptoms alone. People who have symptoms that are severe or last for more than a few days may want to see a health care provider for additional tests. A health care provider may ask for a stool sample to test for rotavirus or norovirus or to rule out bacteria or parasites as the cause of the gastroenteritis. + +During an epidemic of viral gastroenteritis, health care providers or public health officials may test stool samples to find out which virus is responsible for the outbreak.",NIDDK,Viral Gastroenteritis +What are the treatments for Viral Gastroenteritis ?,"Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms and prevent complications. + +Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol) can help relieve symptoms in adults. These medicines are not recommended for children.",NIDDK,Viral Gastroenteritis +What to do for Viral Gastroenteritis ?,"The following steps may help relieve the symptoms of viral gastroenteritis in adults: + +- drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete - getting plenty of rest + +Children present special concerns. Because of their smaller body size, infants and children are likely to become dehydrated more quickly from diarrhea and vomiting. The following steps may help relieve symptoms of viral gastroenteritis and prevent dehydration in children: + +- giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte - giving food as soon as the child is hungry - giving infants breast milk or full strength formula, as usual, along with oral rehydration solutions + +Older adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.",NIDDK,Viral Gastroenteritis +How to prevent Viral Gastroenteritis ?,"People can reduce their chances of getting or spreading viral gastroenteritis if they + +- wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food - disinfect contaminated surfaces such as countertops and baby changing tables with a mixture of 2 cups of household bleach and 1 gallon of water - avoid foods and drinks that might be contaminated + +The U.S. Food and Drug Administration has approved two vaccines to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). RotaTeq is given to infants in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when the infant is 6 weeks old, and the second is given at least 4 weeks later but before the infant is 24 weeks old. + +Parents of infants should discuss rotavirus vaccination with a health care provider. For more information, parents can visit the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus. + +In the past, rotavirus infections were most common from November to April in the United States. However, recently widespread vaccination slowed the transmission of the virus, delaying rotavirus activity until late February. Overall rates of infection have also been lower than in previous years.",NIDDK,Viral Gastroenteritis +What to do for Viral Gastroenteritis ?,"- Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. - The main symptoms of viral gastroenteritis are watery diarrhea and vomiting. - Dehydration is the most common complication of viral gastroenteritis. - When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. Signs of dehydration in adults are excessive thirst, infrequent urination, dark-colored urine, dry skin, and lethargy, dizziness, or faintness. - Infants, young children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated. - Viral gastroenteritis is transmitted from person to person. - Diagnosis of viral gastroenteritis is usually based on symptoms alone. - Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms. - Adults with viral gastroenteritis should drink plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes. - Children with viral gastroenteritis should be given oral rehydration solutions to prevent dehydration. - People can reduce their chances of getting or spreading viral gastroenteritis if they wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food, disinfect contaminated surfaces, and avoid foods or liquids that might be contaminated.",NIDDK,Viral Gastroenteritis +What is (are) Prevent diabetes problems: Keep your mouth healthy ?,"The following chart shows the most common mouth problems from diabetes. + + + + Problem What It Is Symptoms Treatment gingivitis - unhealthy or inflamed gums - red, swollen, and bleeding gums - daily brushing and flossing - regular cleanings at the dentist periodontitis - gum disease, which can change from mild to severe - red, swollen, and bleeding gums - gums that have pulled away from the teeth - long-lasting infection between the teeth and gums - bad breath that wont go away - permanent teeth that are loose or moving away from one another - changes in the way your teeth fit together when you bite - sometimes pus between the teeth and gums - changes in the fit of dentures, which are teeth you can remove - deep cleaning at your dentist - medicine that your dentist prescribes - gum surgery in severe cases thrush, called candidiasis - the growth of a naturally occurring fungus that the body is unable to control - sore, whiteor sometimes redpatches on your gums, tongue, cheeks, or the roof of your mouth - patches that have turned into open sores - medicine that your doctor or dentist prescribes to kill the fungus - cleaning dentures - removing dentures for part of the day or night, and soaking them in medicine that your doctor or dentist prescribes dry mouth, called xerostomia - a lack of saliva in your mouth, which raises your risk for tooth decay and gum disease - dry feeling in your mouth, often or all of the time - dry, rough tongue - pain in the mouth - cracked lips - mouth sores or infection - problems chewing, eating, swallowing, or talking - taking medicine to keep your mouth wet that your doctor or dentist prescribes - rinsing with afluoride mouth rinse to prevent cavities - using sugarless gum or mints to increase saliva flow - taking frequent sips of water - avoiding tobacco, caffeine, and alcoholic beverages - using ahumidifier,a device that raises the level of moisture in your home, at night - avoiding spicy or salty foods that may cause pain in a dry mouth oral burning - a burning sensation inside the mouth caused by uncontrolled blood glucose levels - burning feeling in the mouth - dry mouth - bitter taste - symptoms may worsen throughout the day - seeing your doctor, who may change your diabetes medicine - once your blood glucose is under control, the oral burning will go away + + + + + +More symptoms of a problem in your mouth are - a sore, or an ulcer, that does not heal - dark spots or holes in your teeth - pain in your mouth, face, or jaw that doesnt go away - loose teeth - pain when chewing - a changed sense of taste or a bad taste in your mouth - bad breath that doesnt go away when you brush your teeth",NIDDK,Prevent diabetes problems: Keep your mouth healthy +What is (are) Nutrition for Early Chronic Kidney Disease in Adults ?,"CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. Anemialow red blood cell countcan result from CKD because the kidneys stop making enough erythropoietin, a hormone that causes bone marrow to make red blood cells. After months or years, CKD may progress to permanent kidney failure, which requires a person to have a kidney transplant or regular blood filtering treatments called dialysis.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +Who is at risk for Nutrition for Early Chronic Kidney Disease in Adults? ?,"Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. High blood glucose levels put people with diabetes at risk for heart disease, stroke, amputation, and eye and kidney problems. People with high blood pressure are at risk for damaged blood vessels, including tiny vessels in the kidneys.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +What is (are) Nutrition for Early Chronic Kidney Disease in Adults ?,"People with either type 1 or type 2 diabetes must choose foods carefully to control their blood glucose, the bodys main source of energy. Following a meal plan to keep blood glucose at a healthy level may prevent CKD from developing. + +People with diabetes should talk with their health care provider about setting goals for maintaining healthy blood glucose levels and about how often to check their blood glucose level. The results from these blood glucose checks indicate whether a persons meal plan is helping to keep diabetes under control. People with diabetes should also ask their doctor for an A1C test at least twice a year. The A1C number reflects a persons average blood glucose level over the past 2 to 3 months. + +- Eating about the same amount of food each day. - Eating meals and snacks at about the same times each day. - Not skipping meals or snacks. - Taking medicines at the same times each day. - Participating in physical activity every day.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +What is (are) Nutrition for Early Chronic Kidney Disease in Adults ?,"As blood pressure rises, the risk of damage to the arteries, heart, brain, and kidneys increases. Controlling blood pressure through healthy food choices and regular physical activity can delay or prevent the development of CKD. + +Blood pressure is expressed as two numbers. The top number represents the force of the blood pushing against the artery walls when the heart beats. The lower number represents the pressure between beats. Normal blood pressure is below 120/80 millimeters of mercury (mmHg). People with CKD should try to keep their blood pressure below 140/90 mmHg. + +Following a meal plan can help control blood pressure and protect the kidneys. The National Heart, Lung, and Blood Institute supported research that compared a typical American diet with the Dietary Approaches to Stop Hypertension (DASH) eating plan, which is lower in saturated fat, cholesterol, and total fat and emphasizes eating fruits, vegetables, and low-fat dairy foods. People who followed the DASH eating plan were able to reduce their blood pressure much more than those who ate a typical diet. The DASH eating plan also includes whole grain products, fish, poultry, and nuts. Limiting sodium, or salt, is another important feature of the plan. A dietitian can help find low-salt or salt-free alternatives to foods that are high in salt.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +What is (are) Nutrition for Early Chronic Kidney Disease in Adults ?,"MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A doctor may refer a patient to a registered dietitian to help with the patients food plan. Many insurance policies cover MNT when recommended by a doctor. Anyone who qualifies for Medicare can receive a benefit for MNT from a registered dietitian or nutrition professional when a doctor provides a referral indicating the person has diabetes or kidney disease. + +One way to locate a qualified dietitian is to contact the American Dietetic Association at www.eatright.organd click on Find a Registered Dietitian. Users can enter their address or ZIP code for a list of dietitians in their area. A person looking for dietary advice to prevent kidney damage should click on Renal (Kidney) Nutrition in the specialty field. Dietitians who specialize in helping people with CKD are called renal dietitians.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +What to do for Nutrition for Early Chronic Kidney Disease in Adults ?,"- Controlling blood glucose and blood pressure through healthy food choices is an important step toward slowing or stopping the progression of chronic kidney disease (CKD). - The kidneys remove wastes and extra water from the blood and make urine. - Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. - People with either type 1 or type 2 diabetes must choose foods carefully to control their blood glucose. Following a meal plan to keep blood glucose at a healthy level may prevent CKD from developing. - Controlling blood pressure through healthy food choices and regular physical activity can delay or prevent the development of CKD. People with CKD should try to keep their blood pressure below 140/90 mmHg. - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal. - Dietitians who specialize in helping people with CKD are called renal dietitians. - Learning how to read and understand lab reports lets a person see how different foods can affect the kidneys. Patients can ask their doctor for copies of their lab reports and ask to have them explained, noting any results out of the normal range.",NIDDK,Nutrition for Early Chronic Kidney Disease in Adults +What is (are) Diagnosis of Diabetes and Prediabetes ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Insulin is made in the pancreas, an organ located behind the stomach. As the blood glucose level rises after a meal, the pancreas is triggered to release insulin. Within the pancreas, clusters of cells called islets contain beta cells, which make the insulin and release it into the blood. + +Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. As a result, glucose builds up in the blood instead of being absorbed by cells in the body. The bodys cells are then starved of energy despite high blood glucose levels. + +Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. + +Main Types of Diabetes + +The three main types of diabetes are type 1, type 2, and gestational diabetes: + +- Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, the beta cells of the pancreas no longer make insulin because the bodys immune system has attacked and destroyed them. - Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 90 to 95 percent of people with diabetes have type 2.1 People can develop type 2 diabetes at any age, even during childhood, but this type of diabetes is most often associated with older age. Type 2 diabetes is also associated with excess weight, physical inactivity, family history of diabetes, previous history of gestational diabetes, and certain ethnicities. Type 2 diabetes usually begins with insulin resistance, a condition linked to excess weight in which muscle, liver, and fat cells do not use insulin properly. As a result, the body needs more insulin to help glucose enter cells to be used for energy. At first, the pancreas keeps up with the added demand by producing more insulin. But in time, the pancreas loses its ability to produce enough insulin in response to meals, and blood glucose levels rise. - Gestational diabetes is a type of diabetes that develops only during pregnancy. The hormones produced during pregnancy increase the amount of insulin needed to control blood glucose levels. If the body cant meet this increased need for insulin, women can develop gestational diabetes during the late stages of pregnancy. Gestational diabetes usually goes away after the baby is born. Shortly after pregnancy, 5 to 10 percent of women with gestational diabetes continue to have high blood glucose levels and are diagnosed as having diabetes, usually type 2.1 Research has shown that lifestyle changes and the diabetes medication, metformin, can reduce or delay the risk of type 2 diabetes in these women. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up. More information about gestational diabetes is provided in the NIDDK health topic, What I need to know about Gestational Diabetes,or by calling 18008608747. + +Other Types of Diabetes + +Many other types of diabetes exist, and a person can exhibit characteristics of more than one type. For example, in latent autoimmune diabetes in adults, people show signs of both type 1 and type 2 diabetes. Other types of diabetes include those caused by genetic defects, diseases of the pancreas, excess amounts of certain hormones resulting from some medical conditions, medications that reduce insulin action, chemicals that destroy beta cells, infections, rare autoimmune disorders, and genetic syndromes associated with diabetes. + +More information about other types of diabetes is provided in the NIDDK health topic, Causes of Diabetes, or by calling 18008608747.",NIDDK,Diagnosis of Diabetes and Prediabetes +What is (are) Diagnosis of Diabetes and Prediabetes ?,"Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years. + +However, modest weight loss and moderate physical activity can help people with prediabetes delay or prevent type 2 diabetes.",NIDDK,Diagnosis of Diabetes and Prediabetes +How to diagnose Diagnosis of Diabetes and Prediabetes ?,"Blood tests are used to diagnosis diabetes and prediabetes because early in the disease type 2 diabetes may have no symptoms. All diabetes blood tests involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Lab analysis of blood is needed to ensure test results are accurate. Glucose measuring devices used in a health care providers office, such as finger-stick devices, are not accurate enough for diagnosis but may be used as a quick indicator of high blood glucose. + +Testing enables health care providers to find and treat diabetes before complications occur and to find and treat prediabetes, which can delay or prevent type 2 diabetes from developing. + +Any one of the following tests can be used for diagnosis:* + +- an A1C test, also called the hemoglobin A1c, HbA1c, or glycohemoglobin test - a fasting plasma glucose (FPG) test - an oral glucose tolerance test (OGTT) + +*Not all tests are recommended for diagnosing all types of diabetes. See the individual test descriptions for details. + +Another blood test, the random plasma glucose (RPG) test, is sometimes used to diagnose diabetes during a regular health checkup. If the RPG measures 200 milligrams per deciliter or above, and the individual also shows symptoms of diabetes, then a health care provider may diagnose diabetes. + +Symptoms of diabetes include + +- increased urination - increased thirst - unexplained weight loss + +Other symptoms can include fatigue, blurred vision, increased hunger, and sores that do not heal. + +Any test used to diagnose diabetes requires confirmation with a second measurement unless clear symptoms of diabetes exist. + +The following table provides the blood test levels for diagnosis of diabetes for nonpregnant adults and diagnosis of prediabetes. + +A1C Test + +The A1C test is used to detect type 2 diabetes and prediabetes but is not recommended for diagnosis of type 1 diabetes or gestational diabetes. The A1C test is a blood test that reflects the average of a persons blood glucose levels over the past 3 months and does not show daily fluctuations. The A1C test is more convenient for patients than the traditional glucose tests because it does not require fasting and can be performed at any time of the day. + +The A1C test result is reported as a percentage. The higher the percentage, the higher a persons blood glucose levels have been. A normal A1C level is below 5.7 percent. + +An A1C of 5.7 to 6.4 percent indicates prediabetes. People diagnosed with prediabetes may be retested in 1 year. People with an A1C below 5.7 percent maystill be at risk for diabetes, depending on the presence of other characteristics that put them at risk, also known as risk factors. People with an A1C above 6.0 percent should be considered at very high risk of developing diabetes. A level of 6.5 percent or above means a person has diabetes. + +Laboratory analysis. When the A1C test is used for diagnosis, the blood sample must be sent to a laboratory using a method that is certified by the NGSP to ensure the results are standardized. Blood samples analyzed in a health care providers office, known as point-of-care tests, are not standardized for diagnosing diabetes. + +Abnormal results. The A1C test can be unreliable for diagnosing or monitoring diabetes in people with certain conditions known to interfere with the results. Interference should be suspected when A1C results seem very different from the results of a blood glucose test. People of African, Mediterranean, or Southeast Asian descent or people with family members with sickle cell anemia or a thalassemia are particularly at risk of interference. + +However, not all of the A1C tests are unreliable for people with these diseases. The NGSP provides information about which A1C tests are appropriate to use for specific types of interference and details on any problems with the A1C test at www.ngsp.org. + +False A1C test results may also occur in people with other problems that affect their blood or hemoglobin such as chronic kidney disease, liver disease, or anemia. + +More information about limitations of the A1C test and different forms of sickle cell anemia is provided in the NIDDK health topic, For People of African, Mediterranean, or Southeast Asian Heritage: Important Information about Diabetes Blood Tests, or by calling 18008608747. + +Changes in Diagnostic Testing + +In the past, the A1C test was used to monitor blood glucose levels but not for diagnosis. The A1C test has now been standardized, and in 2009, an international expert committee recommended it be used for diagnosis of type 2 diabetes and prediabetes.2 + +More information about the A1C test is provided in the NIDDK health topic, The A1C Test and Diabetes, or by calling 18008608747. + +Fasting Plasma Glucose Test + +The FPG test is used to detect diabetes and prediabetes. The FPG test has been the most common test used for diagnosing diabetes because it is more convenient than the OGTT and less expensive. The FPG test measures blood glucose in a person who has fasted for at least 8 hours and is most reliable when given in the morning. + +People with a fasting glucose level of 100 to 125 mg/dL have impaired fasting glucose (IFG), or prediabetes. A level of 126 mg/dL or above, confirmed by repeating the test on another day, means a person has diabetes. + +Oral Glucose Tolerance Test + +The OGTT can be used to diagnose diabetes, prediabetes, and gestational diabetes. Research has shown that the OGTT is more sensitive than the FPG test, but it is less convenient to administer. When used to test for diabetes or prediabetes, the OGTT measures blood glucose after a person fasts for at least 8 hours and 2 hours after the person drinks a liquid containing 75 grams of glucose dissolved in water. + +If the 2-hour blood glucose level is between 140 and 199 mg/dL, the person has a type of prediabetes called impaired glucose tolerance (IGT). If confirmed by a second test, a 2-hour glucose level of 200 mg/dL or above means a person has diabetes.",NIDDK,Diagnosis of Diabetes and Prediabetes +How to diagnose Diagnosis of Diabetes and Prediabetes ?,"Health care providers test for gestational diabetes using the OGTT. Women may be tested during their first visit to the health care provider after becoming pregnant or between 24 to 28 weeks of pregnancy depending on their risk factors and symptoms. Women found to have diabetes at the first visit to the health care provider after becoming pregnant may be diagnosed with type 2 diabetes. + +Defining Safe Blood Glucose Levels for Pregnancy + +Many studies have shown that gestational diabetes can cause complications for the mother and baby. An international, multicenter study, the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study, showed that the higher a pregnant womans blood glucose is, the higher her risk of pregnancy complications. The HAPO researchers found that pregnancy complications can occur at blood glucose levels that were once considered to be normal. + +Based on the results of the HAPO study, new guidelines for diagnosis of gestational diabetes were recommended by the International Association of the Diabetes and Pregnancy Study Groups in 2011. So far, the new guidelines have been adopted by the American Diabetes Association (ADA)3 but not by the American College of Obstetricians and Gynecologists (ACOG)4 or other medical organizations. Researchers estimate these new guidelines, if widely adopted, will increase the proportion of pregnant women diagnosed with gestational diabetes to nearly 18 percent.5 + +Both ADA and ACOG guidelines for using the OGTT in diagnosing gestational diabetes are shown in the following tables. + +Recommendations for Testing Pregnant Women for Diabetes + +Time of testing ACOG ADA At first visit during pregnancy No recommendation Test women with risk factors for diabetes using standard testing for diagnosis of type 2 diabetes. Women found to have diabetes at this time should be diagnosed with type 2 diabetes, not gestational diabetes. At 24 to 28 weeks of pregnancy Test women for diabetes based on their history, risk factors, or a 50-gram, 1-hour, nonfasting, glucose challenge testa modified OGTT. If score is 130140 mg/dL, test again with fasting, 100-gram, 3-hour OGTT.* Test all women for diabetes who are not already diagnosed, using a fasting, 75-gram, 2-hour OGTT.* + + + +OGTT Levels for Diagnosis of Gestational Diabetes + +Time of Sample Collection ACOG Levels**,4 (mg/dL) ADA Levels3(mg/dL) 100-gram Glucose Drink 75-gram Glucose Drink Fasting, before drinking glucose 95 or above 92 or above 1 hour after drinking glucose 180 or above 180 or above 2 hours after drinking glucose 155 or above 153 or above 3 hours after drinking glucose 140 or above Not used Requirements for Diagnosis TWO or more of the above levels must be met ONE or more of the above levels must be met + + + + + + + +More information about treating gestational diabetes is provided in the NIDDK health topic, What I need to know about Gestational Diabetes, or by calling 18008608747.",NIDDK,Diagnosis of Diabetes and Prediabetes +How to prevent Diagnosis of Diabetes and Prediabetes ?,"A major research study, the Diabetes Prevention Program (DPP), proved that people with prediabetes were able to sharply reduce their risk of developing diabetes during the study by losing 5 to 7 percent of their body weight through dietary changes and increased physical activity. + +Study participants followed a low-fat, low-calorie diet and engaged in regular physical activity, such as walking briskly five times a week for 30 minutes. These strategies worked well for both men and women in all racial and ethnic groups, but were especially effective for participants age 60 and older. A follow-up study, the Diabetes Prevention Program Outcomes Study (DPPOS), showed losing weight and being physically active provide lasting results. Ten years after the DPP, modest weight loss delayed onset of type 2 diabetes by an average of 4 years. + +The diabetes medication metformin also lowers the risk of type 2 diabetes in people with prediabetes, especially those who are younger and heavier and women who have had gestational diabetes. The DPPOS showed that metformin delayed type 2 diabetes by 2 years. People at high risk should ask their health care provider if they should take metformin to prevent type 2 diabetes. Metformin is a medication that makes insulin work better and can reduce the risk of type 2 diabetes. + +More information about insulin resistance, the DPP, or how to lower risk for type 2 diabetes is provided in the NIDDK health topics: + +- Am I at Risk for Type 2 Diabetes? - Diabetes Prevention Program (DPP) - Insulin Resistance and Prediabetes + +Additional information about the DPP, funded under NIH clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727, can be found at www.bsc.gwu.edu/dpp. + +As part of its Small Steps, Big Rewards campaign, the National Diabetes Education Program (NDEP) offers several booklets about preventing type 2 diabetes, including information about setting goals, tracking progress, implementing a walking program, and finding additional resources. These materials are available at www.ndep.nih.gov or by calling the NDEP at 1888693NDEP (18886936337).",NIDDK,Diagnosis of Diabetes and Prediabetes +What are the treatments for Diagnosis of Diabetes and Prediabetes ?,"People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics: + +- What I need to know about Diabetes Medicines - What I need to know about Eating and Diabetes - Your Guide to Diabetes: Type 1 and Type 2 + +These NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747.",NIDDK,Diagnosis of Diabetes and Prediabetes +What to do for Diagnosis of Diabetes and Prediabetes ?,"- Tests used for diagnosing diabetes and prediabetes include the A1C testfor type 2 diabetes and prediabetesthe fasting plasma glucose (FPG) test, and the oral glucose tolerance test (OGTT). Another blood test, the random plasma glucose (RPG) test, is sometimes used to diagnose diabetes when symptoms are present during a regular health checkup. - Anyone age 45 or older should consider getting tested for diabetes or prediabetes. People younger than 45 should consider testing if they are overweight or obese and have one or more additional risk factors for diabetes. - If results of testing are normal, testing should be repeated at least every 3 years. Health care providers may recommend more frequent testing depending on initial results and risk status. - People whose test results indicate they have prediabetes may be tested again in 1 year and should take steps to prevent or delay type 2 diabetes. - Many people with prediabetes develop type 2 diabetes within 10 years. - Modest weight loss and moderate physical activity can help people with prediabetes delay or prevent type 2 diabetes.",NIDDK,Diagnosis of Diabetes and Prediabetes +What causes Nerve Disease and Bladder Control ?,"Nerves that work poorly can lead to three different kinds of bladder control problems. + +Overactive bladder. Damaged nerves may send signals to the bladder at the wrong time, causing its muscles to squeeze without warning. The symptoms of overactive bladder include + +- urinary frequencydefined as urination eight or more times a day or two or more times at night - urinary urgencythe sudden, strong need to urinate immediately - urge incontinenceleakage of urine that follows a sudden, strong urge to urinate + +Poor control of sphincter muscles. Sphincter muscles surround the urethra and keep it closed to hold urine in the bladder. If the nerves to the sphincter muscles are damaged, the muscles may become loose and allow leakage or stay tight when you are trying to release urine. + +Urine retention. For some people, nerve damage means their bladder muscles do not get the message that it is time to release urine or are too weak to completely empty the bladder. If the bladder becomes too full, urine may back up and the increasing pressure may damage the kidneys. Or urine that stays too long may lead to an infection in the kidneys or bladder. Urine retention may also lead to overflow incontinence.",NIDDK,Nerve Disease and Bladder Control +What causes Nerve Disease and Bladder Control ?,"Many events or conditions can damage nerves and nerve pathways. Some of the most common causes are + +- vaginal childbirth - infections of the brain or spinal cord - diabetes - stroke - accidents that injure the brain or spinal cord - multiple sclerosis - heavy metal poisoning + +In addition, some children are born with nerve problems that can keep the bladder from releasing urine, leading to urinary infections or kidney damage.",NIDDK,Nerve Disease and Bladder Control +What are the treatments for Nerve Disease and Bladder Control ?,"The treatment for a bladder control problem depends on the cause of the nerve damage and the type of voiding dysfunction that results. + +In the case of overactive bladder, your doctor may suggest a number of strategies, including bladder training, electrical stimulation, drug therapy, and, in severe cases where all other treatments have failed, surgery. + +Bladder training. Your doctor may ask you to keep a bladder diary-a record of your fluid intake, trips to the bathroom, and episodes of urine leakage. This record may indicate a pattern and suggest ways to avoid accidents by making a point of using the bathroom at certain times of the day-a practice called timed voiding. As you gain control, you can extend the time between trips to the bathroom. Bladder training also includes Kegel exercises to strengthen the muscles that hold in urine. + +Electrical stimulation. Mild electrical pulses can be used to stimulate the nerves that control the bladder and sphincter muscles. Depending on which nerves the doctor plans to treat, these pulses can be given through the vagina or anus, or by using patches on the skin. Another method is a minor surgical procedure to place the electric wire near the tailbone. This procedure involves two steps. First, the wire is placed under the skin and connected to a temporary stimulator, which you carry with you for several days. If your condition improves during this trial period, then the wire is placed next to the tailbone and attached to a permanent stimulator under your skin. The Food and Drug Administration (FDA) has approved this device, marketed as the InterStim system, to treat urge incontinence, urgency-frequency syndrome, and urinary retention in patients for whom other treatments have not worked. + +Drug therapy. Different drugs can affect the nerves and muscles of the urinary tract in different ways. + +- Drugs that relax bladder muscles and prevent bladder spasms include oxybutynin chloride (Ditropan), tolterodine (Detrol), hyoscyamine (Levsin), and propantheline bromide (Pro-Banthine), which belong to the class of drugs called anticholinergics. Their most common side effect is dry mouth, although large doses may cause blurred vision, constipation, a faster heartbeat, and flushing. A new patch delivery system for oxybutynin (Oxytrol) may decrease side effects. Ditropan XL and Detrol LA are timed-release formulations that deliver a low level of the drug continuously in the body. These drugs have the advantage of once-a-day administration. In 2004, the FDA approved trospium chloride (Sanctura), darifenacin (Enablex), and solifenacin succinate (VESIcare) for the treatment of overactive bladder. - Drugs for depression that also relax bladder muscles include imipramine hydrochloride (Tofranil), a tricyclic antidepressant. Side effects may include fatigue, dry mouth, dizziness, blurred vision, nausea, and insomnia. + +Additional drugs are being evaluated for the treatment of overactive bladder and may soon receive FDA approval. + +Surgery. In extreme cases, when incontinence is severe and other treatments have failed, surgery may be considered. The bladder may be made larger through an operation known as augmentation cystoplasty, in which a part of the diseased bladder is replaced with a section taken from the patient's bowel. This operation may improve the ability to store urine but may make the bladder more difficult to empty, making regular catheterization necessary. Additional risks of surgery include the bladder breaking open and leaking urine into the body, bladder stones, mucus in the bladder, and infection.",NIDDK,Nerve Disease and Bladder Control +What are the treatments for Nerve Disease and Bladder Control ?,"The job of the sphincter muscles is to hold urine in the bladder by squeezing the urethra shut. If the urethral sphincter fails to stay closed, urine may leak out of the bladder. When nerve signals are coordinated properly, the sphincter muscles relax to allow urine to pass through the urethra as the bladder contracts to push out urine. If the signals are not coordinated, the bladder and the sphincter may contract at the same time, so urine cannot pass easily. + +Drug therapy for an uncoordinated bladder and urethra. Scientists have not yet found a drug that works selectively on the urethral sphincter muscles, but drugs used to reduce muscle spasms or tremors are sometimes used to help the sphincter relax. Baclofen (Lioresal) is prescribed for muscle spasms or cramping in patients with multiple sclerosis and spinal injuries. Diazepam (Valium) can be taken as a muscle relaxant or to reduce anxiety. Drugs called alpha-adrenergic blockers can also be used to relax the sphincter. Examples of these drugs are alfuzosin (UroXatral), tamsulosin (Flomax), terazosin (Hytrin), and doxazosin (Cardura). The main side effects are low blood pressure, dizziness, fainting, and nasal congestion. All of these drugs have been used to relax the urethral sphincter in people whose sphincter does not relax well on its own. + +Botox injection. Botulinum toxin type A (Botox) is best known as a cosmetic treatment for facial wrinkles. Doctors have also found that botulinum toxin is useful in blocking spasms like eye ticks or relaxing muscles in patients with multiple sclerosis. Urologists have found that injecting botulinum toxin into the tissue surrounding the sphincter can help it to relax. Although the FDA has approved botulinum toxin only for facial cosmetic purposes, researchers are studying the safety and effectiveness of botulinum toxin injection into the sphincter for possible FDA approval in the future.",NIDDK,Nerve Disease and Bladder Control +What are the treatments for Nerve Disease and Bladder Control ?,"Urine retention may occur either because the bladder wall muscles cannot contract or because the sphincter muscles cannot relax. + +Catheter. A catheter is a thin tube that can be inserted through the urethra into the bladder to allow urine to flow into a collection bag. If you are able to place the catheter yourself, you can learn to carry out the procedure at regular intervals, a practice called clean intermittent catheterization. Some patients cannot place their own catheters because nerve damage affects their hand coordination as well as their voiding function. These patients need to have a caregiver place the catheter for them at regular intervals. If regular catheter placement is not feasible, the patients may need to have an indwelling catheter that can be changed less often. Indwelling catheters have several risks, including infection, bladder stones, and bladder tumors. However, if the bladder cannot be emptied any other way, then the catheter is the only way to stop the buildup of urine in the bladder that can damage the kidneys. + +Urethral stent. Stents are small tube-like devices inserted into the urethra and allowed to expand, like a spring, widening the opening for urine to flow out. Stents can help prevent urine backup when the bladder wall and sphincter contract at the same time because of improper nerve signals. However, stents can cause problems if they move or lead to infection. + +Surgery. Men may consider a surgery that removes the external sphincter-a sphincterotomy-or a piece of it-a sphincter resection-to prevent urinary retention. The surgeon will pass a thin instrument through the urethra to deliver electrical or laser energy that burns away sphincter tissue. Possible complications include bleeding that requires a transfusion and, rarely, problems with erections. This procedure causes loss of urine control and requires the patient to collect urine by wearing an external catheter that fits over the penis like a condom. No external collection device is available for women. + +Urinary diversion. If other treatments fail and urine regularly backs up and damages the kidneys, the doctor may recommend a urinary diversion, a procedure that may require an outside collection bag attached to a stoma, a surgically created opening where urine passes out of the body. Another form of urinary diversion replaces the bladder with a continent urinary reservoir, an internal pouch made from sections of the bowel or other tissue. This method allows the person to store urine inside the body until a catheter is used to empty it through a stoma.",NIDDK,Nerve Disease and Bladder Control +What to do for Kidney Failure: What to Expect ?,"For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. A persons treatment will dictate the type of diet that should be followed: + +- People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. - In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. - Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. + +All dialysis centers and transplant clinics have a renal dietitian who specializes in helping people with kidney failure. People who are on dialysis or have a kidney transplant should talk with their clinics renal dietitian to develop a meal plan that will enhance the effectiveness of their treatment. + +For more information about nutrition for people with advanced CKD or who are on dialysis, see NIDDK health topics, Nutrition for Advanced Chronic Kidney Disease in Adults or Kidney Failure: Eat Right to Feel Right on Hemodialysis.",NIDDK,Kidney Failure: What to Expect +What to do for Kidney Failure: What to Expect ?,"- Kidney failure can affect a persons health in several ways. - When the kidneys stop working, waste products build up in the blood, a condition known as uremia. - People with kidney failure can avoid most of the problems of uremia by having regular dialysis treatments and limiting foods that contain sodium, potassium, and phosphorus. - Anemia is common in people with chronic kidney disease (CKD), as well as those on dialysis, because the damaged kidneys slow the produc-tion of the hormone erythropoietin (EPO), which helps the bone marrow make red blood cells. - People with kidney failure, particularly dialysis patients, have far higher rates of heart and blood vessel problems than people without kidney problems. - People who have uremia often lose their appetite. - Many people treated with hemodialysis complain of itchy skin. - Kidney failure weakens the bones due to a condition called chronic kidney disease-mineral and bone disorder. - Kidney failure can cause pain, stiffness, and fluid in the joints. These symptoms result from amyloidosis, a condition in which an abnormal protein in the blood called amyloid is deposited in tissues and organs, including the joints and tendons. - People on dialysis often have insomnia, sleep apnea syndrome, and restless legs syndrome. - People who have kidney failure and depression should tell their health care provider because depression can often be treated with adjustments to the diet and dialysis dose, medications, counseling, and cognitive behavioral therapy. - For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. - All dialysis centers and transplant clinics have a renal dietitian who specializes in helping people with kidney failure. People who are on dialysis or have a kidney transplant should talk with their clinics renal dietitian to develop a meal plan that will enhance the effectiveness of their treatment.",NIDDK,Kidney Failure: What to Expect +What is (are) What I need to know about Hepatitis A ?,"Hepatitis* A is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. + +Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.",NIDDK,What I need to know about Hepatitis A +What is (are) What I need to know about Hepatitis A ?,"The liver is an organ that does many important things. You cannot live without a liver. + +*See the Pronunciation Guide for tips on how to say the words in bold type. + +The liver + +- removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy",NIDDK,What I need to know about Hepatitis A +Who is at risk for What I need to know about Hepatitis A? ?,"Anyone can get hepatitis A, but those more likely to are people who + +- travel to developing countries - live with someone who currently has an active hepatitis A infection - use illegal drugs, including noninjection drugs - have unprotected sex with an infected person - provide child care + +Also, men who have sex with men are more likely to get hepatitis A.",NIDDK,What I need to know about Hepatitis A +What are the symptoms of What I need to know about Hepatitis A ?,"Most people do not have any symptoms of hepatitis A. If symptoms of hepatitis A occur, they include + +- feeling tired - muscle soreness - upset stomach - fever - loss of appetite - stomach pain - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice + +Symptoms of hepatitis A can occur 2 to 7 weeks after coming into contact with the virus. Children younger than age 6 may have no symptoms. Older children and adults often get mild, flulike symptoms. See a doctor right away if you or a child in your care has symptoms of hepatitis A.",NIDDK,What I need to know about Hepatitis A +How to diagnose What I need to know about Hepatitis A ?,A blood test will show if you have hepatitis A. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis A.,NIDDK,What I need to know about Hepatitis A +What are the treatments for What I need to know about Hepatitis A ?,"Hepatitis A usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. Talk with your doctor before taking prescription and over-the-counter medicines. + +See your doctor regularly to make sure your body has fully recovered. If symptoms persist after 6 months, then you should see your doctor again. + +When you recover, your body will have learned to fight off a future hepatitis A infection. However, you can still get other kinds of hepatitis.",NIDDK,What I need to know about Hepatitis A +What to do for What I need to know about Hepatitis A ?,"If you have hepatitis A, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.",NIDDK,What I need to know about Hepatitis A +What to do for What I need to know about Hepatitis A ?,"- Hepatitis A is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis A, but some people are more likely to than others. - You could get hepatitis A through contact with an infected persons stool. - Most people do not have any symptoms of hepatitis A. - Children younger than age 6 may have no symptoms of hepatitis A. - Hepatitis A may cause mild, flulike symptoms in older children and adults. - See a doctor right away if you or a child in your care has symptoms of hepatitis A. - A blood test will show if you have hepatitis A. - Hepatitis A usually gets better in a few weeks without treatment. - You can avoid getting hepatitis A by receiving the hepatitis A vaccine. - Tell your doctor and your dentist if you have hepatitis A. - See your doctor right away if you think you have been in contact with the hepatitis A virus.",NIDDK,What I need to know about Hepatitis A +What is (are) Prevent diabetes problems: Keep your diabetes under control ?,"Diabetes problems are health problems that can happen when you have diabetes. If your diabetes is not under control, you will have too much glucose*, also called sugar, in your blood. Having too much glucose in your blood for a long time can affect many important parts of your body, such as your + +- blood vessels and heart - nerves - kidneys - mouth - eyes - feet + +You can do a lot to prevent or slow down these health problems if you keep your diabetes under control. + +This chart shows the body parts that can be affected by diabetes and the resulting health problems you may have. + +Affected Body Part Resulting Health Problems You May Have Blood vessels and heart - Heart disease - Heart attack - Stroke - High blood pressure - Poor blood circulation, or flow, throughout your body Nerves - Pain, tingling, weakness, or numbness in your hands, arms, feet, or legs - Problems with your bladder, digestion, having sex, and keeping your heartbeats and blood pressure steady Kidneys - Protein loss through your urine - Buildup of wastes and fluid in your blood Mouth - Gum disease and loss of teeth - Dry mouth - Thrush, or the growth of too much fungus in the mouth Eyes - Loss of vision and blindness Feet - Sores - Infections - Amputation + +*See the Pronunciation Guide for tips on how to say the the words in bold type.",NIDDK,Prevent diabetes problems: Keep your diabetes under control +What is (are) Prevent diabetes problems: Keep your diabetes under control ?,"The A1C test, also called the hemoglobin A1C test, HbA1C, or glycohemoglobin test, is a blood test that reflects the average level of glucose in your blood during the past 3 months. Your A1C test result is given in percents. Your doctor might use the A1C test to help diagnose your diabetes. Your doctor will draw a sample of your blood in the office or send you to a lab to have a sample of your blood drawn for the test. After being diagnosed with diabetes, you should have the A1C test at least twice a year. + +Your A1C result plus your record of blood glucose numbers show whether your blood glucose is under control. + +- If your A1C result is too high, you may need to change your diabetes care plan. Your health care team can help you decide what part of your plan to change. For instance, you might need to change your meal plan, your diabetes medicines, or your physical activity plan. - If your A1C result is on target, then your diabetes treatment plan is working. The lower your A1C is, the lower your chance of having diabetes problems. + +This chart shows the A1C goals for different types of people with diabetes. + +Types of People A1C Goals Most people with diabetes below 7% Women with diabetes who want to get pregnant or who are pregnant below 6% + +A1C goals can also depend on + +- how long you have had diabetes - whether or not you have other health problems + +Ask your doctor what goal is right for you. + + + +This chart shows how your A1C result may match up to your average blood glucose number. + +What Your A1C Result Means My A1C Result My Average Blood Glucose Number 6% 135 7% 170 8% 205 9% 240 10% 275 11% 310 12% 345",NIDDK,Prevent diabetes problems: Keep your diabetes under control +What to do for Prevent diabetes problems: Keep your diabetes under control ?,"Following a healthy eating plan is a key step in living with diabetes and preventing diabetes problems. Your health care team will help you make a healthy eating plan. + +More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes or call 18008608747.",NIDDK,Prevent diabetes problems: Keep your diabetes under control +How to prevent Prevent diabetes problems: Keep your diabetes under control ?,"You can take steps each day to prevent diabetes problems. + +Steps Healthy Eating - Follow the healthy eating plan that you and your doctor or dietitian have made. - Learn what to eat to keep your blood glucose levels under control. - Make wise food choices to help you feel good every day and to lose weight if needed. Blood Glucose - Check your blood glucose every day. - Each time you check your blood glucose, write the number in a record book to share with your health care team. - Treat low blood glucose quickly. Physical Activity - Even small amounts of physical activity help manage diabetes. Aim for 30 to 60 minutes of physical activity most days of the week. Children and adolescents with type 2 diabetes who are 10 to 17 years old should aim for 60 minutes of activity every day. - Not all physical activity has to take place at the same time. - Do aerobic activities, such as brisk walking, which use your large muscles to make your heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - Do activities to strengthen muscles and bone, such as lifting weights or sit-ups. Aim for two times a week. - Stretch to increase your flexibility, lower stress, and help prevent muscle soreness after physical activity. - Increase daily activity by decreasing time spent watching TV or at the computer. Children and adolescents should limit screen time not related to school to less than 2 hours per day. Limiting screen time can help you meet your physical activity goal. - Always talk with your doctor before you start a new physical activity program. Medicines - Take your medicines as directed, including insulin if ordered by your doctor. Feet - Check your feet every day for cuts, blisters, sores, swelling, redness, or sore toenails. Mouth - Brush and floss your teeth every day. Blood Pressure - Control your blood pressure and cholesterol. Smoking - Dont smoke.",NIDDK,Prevent diabetes problems: Keep your diabetes under control +How to diagnose Prevent diabetes problems: Keep your diabetes under control ?,"This chart lists important tests, exams, and vaccines to get at least once or twice a year. + +Tests, Exams, and Vaccines to Get at Least Once or Twice a Year Make Sure to A1C test - Have this blood test at least twice a year. Your result will tell you what your average blood glucose level was for the past 3 months. Cholesterol test - Get a blood test to check your - total cholesterol - LDL - HDL - triglycerides Kidney tests - Once a year, get a urine test to check for protein. - At least once a year, get a blood test to check for creatinine, a waste product healthy kidneys remove from the body. Eye exam - See an eye doctor once a year for a complete eye exam that includes using drops in your eyes to dilate your pupils. - If you are pregnant, have a complete eye exam in your first 3 months of pregnancy. Have another complete eye exam 1 year after your baby is born. Dental exam - See your dentist twice a year for a cleaning and checkup. Flu vaccine - Get a flu vaccine each year. Pneumonia vaccine - Get this vaccine if you are younger than 64. - If youre older than 64 and your vaccine was more than 5 years ago, get another one. Hepatitis B vaccine - Get this vaccine if youre younger than 60 and you have not already had the vaccine. - Prevent exposure to Hepatitis B by not sharing blood glucose monitors or other diabetes equipment.",NIDDK,Prevent diabetes problems: Keep your diabetes under control +What is (are) What I need to know about Hepatitis C ?,"Hepatitis* C is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. + +Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.",NIDDK,What I need to know about Hepatitis C +What is (are) What I need to know about Hepatitis C ?,"The liver is an organ that does many important things. You cannot live without a liver. + +*See the Pronunciation Guide for tips on how to say the words in bold type. + +The liver + +- removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy",NIDDK,What I need to know about Hepatitis C +Who is at risk for What I need to know about Hepatitis C? ?,"Anyone can get hepatitis C, but those more likely to are people who + +- were born to a mother with hepatitis C - are in contact with blood or infected needles at work - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe process of filtering wastes and extra water from the body by means other than the kidneys - are infected with HIV - have injected illegal drugs - have had tattoos or body piercings - work or live in a prison - had a blood transfusion or organ transplant before July 1992 - have hemophilia and received clotting factor before 1987 + +Also, men who have sex with men are more likely to get hepatitis C.",NIDDK,What I need to know about Hepatitis C +What are the symptoms of What I need to know about Hepatitis C ?,"Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen. Others may have one or more of the following symptoms: + +- feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice + +When symptoms of hepatitis C occur, they can begin 1 to 3 months after coming into contact with the virus. See a doctor right away if you or a child in your care has symptoms of hepatitis C.",NIDDK,What I need to know about Hepatitis C +What is (are) What I need to know about Hepatitis C ?,Acute hepatitis C is a short-term infection with the hepatitis C virus. Symptoms can last up to 6 months. The infection sometimes clears up because your body is able to fight off the infection and get rid of the virus.,NIDDK,What I need to know about Hepatitis C +What is (are) What I need to know about Hepatitis C ?,"Chronic hepatitis C is a long-lasting infection with the hepatitis C virus. Chronic hepatitis C occurs when the body cant get rid of the hepatitis C virus. Most hepatitis C infections become chronic. + +Without treatment, chronic hepatitis C can cause liver cancer or severe liver damage that leads to liver failure. Liver failure occurs when the liver stops working properly.",NIDDK,What I need to know about Hepatitis C +How to diagnose What I need to know about Hepatitis C ?,"A blood test will show if you have hepatitis C. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis C. + +If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected. + +Your doctor may suggest getting a liver biopsy if chronic hepatitis C is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test. + +During the test, you lie on a table with your right hand resting above your head. Medicine is applied to numb the area where the biopsy needle will be inserted. If needed, sedatives and pain medicine are also given. The doctor uses a needle to take a small piece of liver tissue. After the test, you must lie on your right side for up to 2 hours. You will stay 2 to 4 hours after the test before being sent home. + +A liver biopsy is performed at a hospital or outpatient center by a doctor. The liver sample is sent to a special lab where a doctor looks at the tissue with a microscope and sends a report to your doctor.",NIDDK,What I need to know about Hepatitis C +What are the treatments for What I need to know about Hepatitis C ?,"Hepatitis C is usually not treated unless it becomes chronic. Chronic hepatitis C is treated with medicines that slow or stop the virus from damaging the liver. Your doctor will closely watch your symptoms and schedule regular blood tests to make sure the treatment is working. + +Medicines for Chronic Hepatitis C + +Chronic hepatitis C is most often treated with a medicine combination that attacks the hepatitis C virus. Treatment may last from 24 to 48 weeks. + +Today, newer treatments with medicine for chronic hepatitis C are appearing quickly. Talk with your doctor if you have questions about treatment. + +Talk with your doctor before taking other prescription medicines and over-the-counter medicines. + + + +Liver Transplant + +A liver transplant may be necessary if chronic hepatitis C causes severe liver damage that leads to liver failure. Symptoms of severe liver damage include the symptoms of hepatitis C and + +- generalized itching - a longer than usual amount of time for bleeding to stop - easy bruising - swollen stomach or ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin + +Liver transplant is surgery to remove a diseased or injured liver and replace it with a healthy one from another person, called a donor. If your doctors tell you that you need a transplant, you should talk with them about the long-term demands of living with a liver transplant. + +A team of surgeonsdoctors who specialize in surgeryperforms a liver transplant in a hospital. You will learn how to take care of yourself after you go home and about the medicines youll need to take to protect your new liver. You will continue to take medicines because hepatitis C may come back after surgery. + +Testing for Liver Cancer + +Having hepatitis C increases your risk for liver cancer, so your doctor may suggest an ultrasound test of the liver every 6 to 12 months. Finding cancer early makes it more treatable. Ultrasound is a machine that uses sound waves to create a picture of your liver. Ultrasound is performed at a hospital or radiology center by a specially trained technician. The image, called a sonogram, can show the livers size and the presence of cancerous tumors.",NIDDK,What I need to know about Hepatitis C +What to do for What I need to know about Hepatitis C ?,"If you have chronic hepatitis C, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.",NIDDK,What I need to know about Hepatitis C +What to do for What I need to know about Hepatitis C ?,"- Hepatitis C is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis C, but some people are more likely to than others. - You could get hepatitis C through contact with an infected persons blood. - Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen. - See a doctor right away if you or a child in your care has symptoms of hepatitis C. - Acute hepatitis C is a short-term infection with the hepatitis C virus. - Chronic hepatitis C is a long-lasting infection with the hepatitis C virus. Chronic hepatitis C occurs when the body cant get rid of the hepatitis C virus. - A blood test will show if you have hepatitis C. - If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected. - Hepatitis C usually is not treated unless it becomes chronic. Chronic hepatitis C is treated with medicines that slow or stop the virus from damaging the liver. - Tell your doctor and your dentist if you have hepatitis C. - See your doctor right away if you think you have been in contact with the hepatitis C virus. Early diagnosis and treatment of chronic hepatitis C can help prevent liver damage.",NIDDK,What I need to know about Hepatitis C +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"Before scientists learned how to make synthetic hormones, many animal hormones, such as insulin, were used to treat human disorders. Growth hormone from animals did not work in humans. Human growth hormone (pituitary hGH) was therefore made from human pituitary glands by the National Hormone and Pituitary Program (NHPP), funded by the U.S. Department of Health and Human Services (HHS). From 1963 to 1985, the NHPP sent pituitary hGH to hundreds of doctors across the country. As a part of research studies, doctors used the hormone to treat nearly 7,700 children for failure to grow. + +In 1985, the HHS learned that three young men treated with pituitary hGH died of Creutzfeldt-Jakob disease (CJD), a rare and incurable brain disease. The HHS believed these illnesses were related to pituitary hGH. The HHS immediately stopped the distribution of the hormone and began a national study to learn more about how pituitary hGH treatment may have caused this problem. The HHS continues to monitor individuals who received pituitary hGH through the NHPP for CJD.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"The HHS has identified 29 cases of CJD among the nearly 7,700 people in the United States who received NHPP pituitary hGH. None of the 29 people who got CJD began treatment with pituitary hGH after 1977, the year that the NHPP began producing pituitary hGH in a laboratory (headed by Dr. Albert Parlow) using a new purification step. Today, the growth hormone used to treat patients is made biosynthetically and not from human pituitary glands. Biosynthetic growth hormone (bGH), also known as recombinant human growth hormone (rhGH), poses no threat of infection with CJD. + +Based on NHPP records, the HHS estimated 7,700 people were treated with pituitary hGH from the NHPP. Of these, the HHS got the names and addresses of 6,272 from their doctors and treatment centers so that their health could be monitored. Another 1,400 people are believed to have been treated with pituitary hGH; however, the HHS does not have their names and addresses. The HHS hoped to learn about CJD and other health problems in the unmonitored group of 1,400 and notified many doctors about the problem of CJD, asking them to report CJD among people treated with pituitary hGH. The HHS has learned that five of the 29 people with confirmed CJD were among the 1,400 people the HHS was not able to identify and study. + +Some U.S. laboratories that made pituitary hGH for the NHPP also made hGH for use in other countries. The HHS learned that six people in New Zealand and two people in Brazil who received U.S.-made pituitary hGH may also have gotten CJD. A total of 37 people who were treated with pituitary hGH made in the United States may have gotten CJD. + +Before bGH was available, several pharmaceutical companies made pituitary hGH. Some children treated in the U.S. received hormone produced by these companies when NHPP hGH was not available to them. Some of the 29 people with confirmed CJD received hGH from both the NHPP and a pharmaceutical company. Recently, the HHS has learned of an individual treated in the U.S. who developed CJD and received only commercial pituitary hGH. That person was not eligible for NHPP hGH and received pituitary hGH made by two pharmaceutical companies.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"People treated with pituitary hGH in other countries also got CJD. HHS doctors share information with doctors around the world about health issues such as CJD and read reports about CJD and other health problems related to pituitary hGH treatment. + +Country Number of CJD Cases Reported* Number of Individuals Treated Source of hGH in Reported Cases New Zealand*** 6 159 United States France 119 1,700 France United Kingdom 75 1,849 United Kingdom Holland 2 unpublished Holland Brazil 2 unpublished United States Australia 1** 608 Australia Austria 1 unpublished pharmaceutical (commercial) Qatar 1 unpublished France Ireland 1 unpublished Not known + +*as of November 2014 + +**This case has been recognized by the Australian surveillance authorities as a ""possible"" (albeit unlikely) CJD case. + +***New Zealand has reported six people with CJD among 159 who received pituitary hGH. All six were among 49 people who received pituitary hGH made by the U.S. lab that supplied most NHPP pituitary hGH before 1977. We don't know why this ratesix out of 49 (12.2 percent)is so high in those in New Zealand who received American hormone. HHS scientists believe that this U.S.-made hormone did not undergo the same filtering process used in the United States when the hormone was put into vials. In addition, some hormone preparations sent to New Zealand were not distributed in the United States. + +New Zealand has little information on the hormone preparations used to treat the people who got CJD. Information provided to the HHS from medical authorities in New Zealand indicated the following dates of pituitary hGH treatment for the six New Zealand patients who developed CJD: 1964 to 1966, 1964 to 1970, 1965 to 1972, 1966 to 1972, 1967 to 1969, and 1970 to 1973. With no common period of treatment, it is unlikely that a single preparation exposed all six patients to CJD. + +There is some information on the hormone sent to New Zealand from the lab that also produced hormone for the NHPP before 1977. Some preparations and components of preparations were used in both countries and others were distributed only in the United States or in New Zealand. + +The time between the start of pituitary hGH treatment and the first sign of CJD symptoms was similar in the 29 United States patients (14 to 44 years) and the six New Zealand patients (17 to 37 years). The New Zealand patients who got CJD were treated with pituitary hGH for an average of 4.3 years. In the United States, average treatment time was 8.4 years in patients who got CJD. + +In France, 119 people with CJD were among the 1,700 treated with pituitary hGH. The pattern of exposure to CJD in France is very different from the pattern in the United States. In France, people who received pituitary hGH in 1984 and 1985 appear to be at highest risk for CJD. We have learned from animal studies that when scientists injected a greater amount of CJD infectious agent into an animal, it took less time for CJD to develop. Because of the larger number of people with CJD and shorter times between treatment and CJD onset in France, the level of infection in French hormone was probably higher than in the U.S. hormone. The purification procedure used in France differed from that begun in 1977 in the United States. + +The United Kingdom has reported 75 people with CJD among 1,849 who received pituitary hGH. Experts have also found CJD in two people in Holland, two people in Brazil, and one each in Australia, Austria, Qatar, and Ireland. France, the United Kingdom, Holland, and Australia made their own hormone. The Brazilian patients got pituitary hGH from a U.S. lab that also made NHPP hormone before 1977. This was a different lab than the U.S. lab that made hormone for New Zealand. The Qatar patient received pituitary hGH made in France. The Austrian patient received pituitary hGH made by a pharmaceutical company. Four Australian women developed CJD after receiving other human pituitary hormones as fertility treatments.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"Most people were treated with pituitary hGH because their pituitary glands did not make enough of their own GH. Some of these people also had problems making other pituitary hormones. One of these hormones tells the adrenal glands to make cortisol, a hormone needed for life. People lacking this hormone are at risk of death from adrenal crisis, but adrenal crisis can be prevented. More pituitary hGH recipients have died from adrenal crisis than from CJD. Pituitary hGH did not cause adrenal problems, but some people who received hGH have a pituitary problem that puts them at risk for adrenal crisis. Please read the health alert and discuss this information with your doctor. + +Besides CJD, no other serious or fatal health risks from pituitary hGH treatment have been found. + +Mad Cow Disease + +Starting in 1996, reports of a new form of CJD in young people who lived in the United Kingdom have raised concerns worldwide. + +Since at least 1985, some cattle in the United Kingdom have developed a disease called bovine spongiform encephalopathy (BSE), or ""mad cow"" disease. ""Mad cow"" disease is a sickness in cattle that is caused by an agent that is similar, but not identical, to the agents that cause the most common forms of CJD in people. Individuals who consume products made from cattle infected with the agent that causes ""mad cow"" disease can become infected with the agent themselves and develop the human form of ""mad cow"" disease, called variant CJD (vCJD). In humans, vCJD and the more common forms of CJD (those without the word ""variant"") are separate diseases. As of November 2012, 227 cases of vCJD were confirmed worldwide, mostly from the United Kingdom. Researchers believe all but three of these 227 individuals got vCJD by eating beef from animals with ""mad cow"" disease. The three exceptions were persons who are believed to have developed vCJD because they received infected blood from a donor who had acquired the agent by eating beef from animals with ""mad cow"" disease. + +In the United States, three cases of vCJD have been found. According to the Centers for Disease Control and Prevention (CDC), the investigation of these three cases indicated that they most likely acquired their infection in the United Kingdom (two cases) and Saudi Arabia (one case). + +People who received pituitary hGH are not at higher risk for vCJD. + +AIDS + +HIV, also known as the human immunodeficiency virus, causes AIDS. Pituitary hGH does not cause AIDS. HIV is destroyed by the methods used to make pituitary hGH. People who have been treated with pituitary hGH do not have a higher risk for AIDS. + +Low Levels of GH in Adults + +Some people who received pituitary hGH as children may have low levels of GH as adults and might therefore benefit from bGH as adults. People with low levels of growth hormone as adults may have symptoms or changes like these: + +- more body fat - less muscle - less bone mass - less strength - less energy + +If you lacked GH as a child and have these problems as an adult, ask your doctor whether they might be due to low GH. Because these conditions are common in many people, they are not always due to low GH. Studies have shown that GH treatment in adults with low GH reduces fat and increases muscle mass. Effects on strength, energy, and bone fractures in GH-deficient adults receiving GH replacement are not as clear. + +Today, GH is completely synthetic. It is not made from human pituitaries. It poses no threat of contamination. The Human Growth Foundation (HGF) is one source of information about growth-related disorders. The Foundation can be reached at 18004516434. + +Cancer + +HHS studies of people treated with pituitary hGH supplied by the NHPP show no increased risk of cancer in those who did not have tumors before pituitary hGH treatment. Many people who received NHPP pituitary hGH had brain tumors that caused their lack of GH. People who have had one tumor have an increased risk for getting other tumors. + +In previous updates, we reported that in 1988, Japanese doctors reported an increased risk of leukemia in people treated with GH. Subsequent studies of individuals who were given pituitary hGH in the United States, Japan, and the United Kingdom found no higher rate of leukemia among those who did not have tumors and/or radiation before treatment with pituitary hGH. + +Emotional Problems + +No studies have shown that pituitary hGH causes changes in personality, emotional problems, or suicide.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the symptoms of National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"CJD does not cause the same symptoms in everyone. In most people who got CJD from pituitary hGH, the first signs they noticed were difficulty with walking and balance, dizziness, and/or clumsiness. Later, some began to slur words and have jerky movements. They also had trouble seeing, remembering, and/or thinking clearly. The disease becomes worse very quickly. When individuals have symptoms like these over a long period of time (such as a year) without getting much worse, they do not have CJD. Occasional forgetfulness, clumsiness, or headaches do not mean one has CJD. You should discuss concerns with your doctor if you are not sure. + +CJD is a rare disease. Most cases of CJD are not linked to pituitary hGH. When CJD is not linked to pituitary hGH, the first symptoms are usually mental changes such as confusion, problems thinking clearly, memory loss, behavior changes, and dementia. Though symptoms may differ, there are similar changes in the brain tissue of all patients with CJD.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +Who is at risk for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report)? ?,"No one can say what an individual person's risk is. Of the approximately 7,700 people who received NHPP pituitary hGH, 29 people got CJD. The two things that seem to be connected with getting CJD after pituitary hGH treatment are + +1. How long a person was treated: + +- In the United States, the average length of time for pituitary hGH treatment through the NHPP was about 3 years. For those individuals who developed CJD, the average length of treatment was about 8.4 years. - Even though longer treatment time increased the risk for CJD in the United States, in other countries CJD has developed after shorter treatment periods. + +2. When a person was treated: + +- All of the 29 individuals treated with NHPP hGH who got CJD in the United States started pituitary hGH before 1977. No CJD has been reported in Americans who began treatment with NHPP hormone after 1977, when production of NHPP hormone was moved to a laboratory (headed by Dr. Albert Parlow) that used a new method of purifying pituitary hGH. Research in animals showed the newer purification steps introduced in 1977 reduced the risk of CJD transmission. Recently, an analysis of NHPP hGH recipients was completed taking into account the differences in follow-up time and the duration of treatment of recipients starting treatment before or after 1977. That analysis found that the new purification steps greatly reduced and may have eliminated the risk for CJD infection. - Two cases of CJD have been reported in individuals who received commercially prepared pituitary hGH. An Austrian person was treated with pituitary hGH (Crescormon, from Kabi Pharma) for 14 months and died from CJD 22 years later. An American who was too tall to be eligible for NHPP hormone was treated with pituitary hGH made by two pharmaceutical companies (Asellacrin, from Serono, and Crescormon, from Kabi Pharma). This individual was treated with commercial hGH for 23 months and died just over 26 years later. The methods used to produce these commercial hormone preparations were not identical to the method used in Dr. Parlow's laboratory but did include a version of the important new purification step that has been shown to reduce CJD infectivity. - Overall, one out of about 265 people (29 out of about 7,700 people) who were treated with NHPP pituitary hGH got CJD. - However, one in about 91 people who began treatment before 1977 got CJD. - People who started treatment before 1970 are at even higher risk. In that early group, one in about every 48 people (about 2.1 percent) got CJD. - The appearance of new cases is decreasing, as there has only been one new case in the past 5 years.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"The best source for details on your treatment is the doctor or center that gave you pituitary hGH. To protect patient privacy, the HHS did not ask for the names of those treated with pituitary hGH until 1985, when the first CJD cases were reported. In 1985, the HHS asked doctors and treatment centers for the names and addresses of recipients to inform them of the risk of CJD. + +We know which pituitary hGH preparations were sent to each treatment center and when they were sent. However, because individual doctors administered the pituitary hGH, we don't know which preparation each person might have gotten. We have tried to find this information in the medical records of patients who developed CJD, but many doctors did not note the specific preparation in their records. When records were incomplete, it was assumed that patients who got CJD might have been exposed to all preparations sent to their treatment center during the time they were treated. Since it is impossible to confidently identify high-risk or risk-free hormone, we do not think that details on the hormone preparations that individuals received will help to clarify individual level of risk.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What causes National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"We have not found any particular preparation of pituitary hGH that is especially likely to carry CJD. We believe that CJD did not come from a single infected pituitary gland or preparation. Prior to 1977, in an effort to extract as much hormone as possible from the pituitary glands, the glands were often processed repeatedly. Hormone extracted from the same pituitaries was often included in many hormone preparations. Also, patients who got CJD were treated on average for 8.4 years and received many different hormone preparations. This makes it very difficult to identify any preparation associated with transmitting CJD. + +Doctors wanted to see if a specific preparation of pituitary hGH could transmit CJD. To try to find the pituitary hGH that could have caused CJD, HHS researchers did two things: + +1. They set up a test in animals, injecting samples of all available preparations of pituitary hGH directly into the brains of monkeys. CJD develops more rapidly if injected into the brain than under the skin, as hGH was used in people. The animals were watched for 10 years. The brains of all animals were examined for signs of CJD. If an animal got sick with CJD, it would help researchers to understand which vials of pituitary hGH were contaminated with the agent that causes CJD. + +2. They studied people treated with pituitary hGH to see who got CJD and which hormone preparation they might have received based on which preparations were sent to their doctor. + +Results: + +- The animal tests did not help find the pituitary hGH that might have caused CJD. One animal developed the disease 5 years after injection of pituitary hGH. Two other animals that received injections from different vials of the same pituitary hGH preparation did not develop CJD. - None of the people who developed CJD are known to have received the hormone preparation that made the animal sick. At most, two patients (whose records are incomplete) may have received this pituitary hGH preparation. Because of this, we do not believe that the patients who received the hormone preparation that transmitted CJD to the animal have a greater risk of developing CJD than others treated with pituitary hGH. Because each preparation of pituitary hGH was used to fill multiple vials, it is not known if CJD contamination was spread evenly among all vials of pituitary hGH that came from a particular preparation. It's possible that one vial got more contamination and another got little or none from the same preparation of pituitary hGH. It is believed that multiple preparations of pituitary hGH probably had very low levels of the CJD infectious agent. With such low levels of contamination, some vials of a preparation might carry CJD while other vials would not. Further, most of the people who got CJD received pituitary hGH for long periods of time and received many different preparations.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +How to diagnose National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD. + +Other tests can suggest CJD. In 1996, researchers developed a test that helps doctors diagnose CJD in patients with symptoms. This test detects an abnormal protein in a sample of spinal fluid. When this protein is found, it helps make a diagnosis of CJD. It is much easier and safer to take a sample of spinal fluid than to do a brain biopsy. Unfortunately, this test cannot identify CJD in patients who do not have symptoms. The test cannot predict who may develop CJD in the future. + +Researchers from many countries, including the United States, have reported success using MRI to diagnose CJD and vCJD in people with symptoms of the disease. MRI is a safe and painless tool that allows doctors to look at images of the brain and does not involve the collection of brain or spinal fluid samples.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +what research (or clinical trials) is being done for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"Although CJD is a rare disorder, some of the world's leading researchers are working hard to learn more about this disease. + +About 10 percent of the people who get CJD have the inherited type. Some people have gotten CJD from medical procedures such as pituitary hGH injections, tissue grafts, or corneal transplants. Scientists don't fully understand what causes CJD. Evidence suggests that a unique infectious agent called a prion [PREE-on] may be the cause. A prion is an unusual infectious agent because it contains no genetic material. It is a protein that takes on different forms. In its normal, harmless form, the protein is curled into a spiral. In its infectious form, the protein folds into an abnormal shape. Somehow, these abnormal proteins change the shape of normal proteins. This change begins a serious chain reaction that results in brain problems. + +People with inherited CJD have an abnormal gene that leads to changes in their prion protein. This gene makes the protein likely to assume the abnormal shape. Exposure to the abnormal form of the protein can also occur through injection of contaminated pituitary hGH, tissue grafts, and corneal transplants and through exposures to infected brain tissue. + +If CJD results from a defect in protein folding, it may be possible to identify drugs that can help the prion protein assume its proper shape. Such drugs would slow or stop the progress of the disease. Treatments like these are being studied by researchers. Researchers in both Europe and the United States are also trying to develop a test that will identify CJD before symptoms appear. + +More information and medical journal articles about CJD and growth hormone therapy can be found on the National Endocrine and Metabolic Diseases Information Service web page Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"Some parents did not tell their children about receiving treatment with pituitary hGH and the possible risk of CJD. These children are now adults. Although the HHS no longer sends annual information about the problem of CJD in pituitary hGH recipients, the HHS does maintain a mailing list should any important new information become available. If parents are no longer available to receive HHS mailings, their adult children may not have access to important new information. Some pituitary hGH recipients have learned about the risk of CJD from newspaper stories. Others heard about it when they tried to give blood. Those who were not told by their parents are often angry when they hear about it outside the family. Any parent of an individual who received pituitary hGH who has not received any mailings from the HHSthe last correspondence was sent in June 1999should contact the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) with the adult child's current address. Knowledgeable staff members are glad to answer any questions that parents or recipients may have.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What is (are) National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?,"The Creutzfeldt-Jakob Disease Foundation, Inc. (www.cjdfoundation.org) was created in 1993 by two families who lost relatives to CJD and the neurologist who treated their family members. This nonprofit corporation seeks to promote awareness of CJD through research and education and to reach out to people who have lost loved ones to this illness. For information on CJD from the NIH, see www.ninds.nih.gov. + +The Human Growth Foundation (HGF) (www.hgfound.org) is a nonprofit organization concerned with children's growth disorders and adult GH deficiency. The HGF has information available online and through its toll-free number, 18004516434. The HGF also supports an Internet mailing list to help the exchange of information about adult GH deficiency and adult GH replacement therapy.",NIDDK,National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) +What is (are) High Blood Pressure and Kidney Disease ?,"Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. Factors that can increase this force include higher blood volume due to extra fluid in the blood and blood vessels that are narrow, stiff, or clogged. + +Blood pressure test results are written with two numbers separated by a slash. For example, a health care provider will write a blood pressure result as 120/80. A health care provider will say this blood pressure result as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. + +Most people without chronic health conditions have a normal blood pressure if it stays below 120/80. Prehypertension is a systolic pressure of 120 to 139 or a diastolic pressure of 80 to 89. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1 + +People should talk with their health care provider about their individual blood pressure goals and how often they should have their blood pressure checked.",NIDDK,High Blood Pressure and Kidney Disease +What is (are) High Blood Pressure and Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short. + +Kidneys work at the microscopic level. The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which sends needed minerals back to the bloodstream and removes wastes. The final product becomes urine.",NIDDK,High Blood Pressure and Kidney Disease +What are the symptoms of High Blood Pressure and Kidney Disease ?,"Most people with high blood pressure do not have symptoms. In rare cases, high blood pressure can cause headaches. + +Kidney disease also does not have symptoms in the early stages. A person may have swelling called edema, which happens when the kidneys cannot get rid of extra fluid and salt. Edema can occur in the legs, feet, or ankles and less often in the hands or face. Once kidney function decreases further, symptoms can include + +- appetite loss - nausea - vomiting - drowsiness or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain",NIDDK,High Blood Pressure and Kidney Disease +How to diagnose High Blood Pressure and Kidney Disease ?,"A health care provider diagnoses high blood pressure when multiple blood pressure testsoften repeated over several visits to a health care providers officeshow that a systolic blood pressure is consistently above 140 or a diastolic blood pressure is consistently above 90. Health care providers measure blood pressure with a blood pressure cuff. People can also buy blood pressure cuffs at discount chain stores and drugstores to monitor their blood pressure at home. + +Kidney disease is diagnosed with urine and blood tests. + +Urine Tests + +Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine. Albumin is a protein in the blood that can pass into the urine when the kidneys are damaged. A patient collects the urine sample in a special container in a health care providers office or a commercial facility. The office or facility tests the sample onsite or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when blood or protein is present in urine. + +Urine albumin-to-creatinine ratio. A health care provider uses the albumin and creatinine measurement to determine the ratio between the albumin and creatinine in the urine. Creatinine is a waste product in the blood that is filtered in the kidneys and excreted in the urine. A urine albumin-to-creatinine ratio above 30 mg/g may be a sign of kidney disease. + +Blood Test + +A blood test involves having blood drawn at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may order a blood test to estimate how much blood the kidneys filter each minute, called the estimated glomerular filtration rate (eGFR). The results of the test indicate the following: + +- eGFR of 60 or above is in the normal range - eGFR below 60 may indicate kidney damage - eGFR of 15 or below may indicate kidney failure + + + +Get Screened for Kidney Disease Kidney disease, when found early, can be treated to prevent more serious disease and other complications. The National Kidney Foundation recommends people with high blood pressure receive the following regular screenings: - blood pressure tests - urine albumin - eGFR Health care providers will help determine how often people with high blood pressure should be screened.",NIDDK,High Blood Pressure and Kidney Disease +How to prevent High Blood Pressure and Kidney Disease ?,"The best way to slow or prevent kidney disease from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as + +- healthy eating - physical activity - maintaining a healthy weight - quitting smoking - managing stress + +No matter what the cause of the kidney disease, high blood pressure can increase damage to the kidneys. People with kidney disease should keep their blood pressure below 140/90.4 + +Medication + +Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta blockers, calcium channel blockers, and other blood pressure medications.",NIDDK,High Blood Pressure and Kidney Disease +What to do for High Blood Pressure and Kidney Disease ?,"Following a healthy eating plan can help lower blood pressure. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan + +- is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, sweets, added sugars, and sugar-containing beverages - is rich in nutrients, protein, and fiber + +Read more about DASH at www.nhlbi.nih.gov/health/resources/heart/hbp-dash-index.htm. + +A dietitian may also recommend this type of diet for people who have already developed kidney disease. A diet low in sodium and liquid intake can help reduce edema and lower blood pressure. Reducing saturated fat and cholesterol can help control high levels of lipids, or fats, in the blood. + +Health care providers may recommend that people with kidney disease eat moderate or reduced amounts of protein, though the benefits of reducing protein in a persons diet is still being researched. Proteins break down into waste products that the kidneys filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. People with kidney disease who are on a restricted protein diet should be monitored with blood tests that can show low nutrient levels. + +In addition, consuming too much alcohol raises blood pressure, so people should limit alcoholic drinkstwo per day for men and one per day for women. + +A health care provider can help people change their diet to meet their individual needs. + +Physical Activity + +Regular physical activity can lower blood pressure and reduce the chances of other health problems. A health care provider can provide information about how much and what kinds of activity are safe. Most people should try to get at least 30 to 60 minutes of activity most or all days of the week. A person can do all physical activity at once or break up activities into shorter periods of at least 10 minutes each. Moderate activities include brisk walking, dancing, bowling, riding a bike, working in a garden, and cleaning the house. + +Body Weight + +People who are overweight or obese should aim to reduce their weight by 7 to 10 percent during the first year of treatment for high blood pressure. This amount of weight loss can lower the chance of health problems related to high blood pressure. Overweight is defined as a body mass index (BMI)a measurement of weight in relation to heightof 25 to 29. A BMI of 30 or higher is considered obese. A BMI lower than 25 is the goal for keeping blood pressure under control.5 + +Smoking + +People who smoke should quit. Smoking can damage blood vessels, raise the chance of high blood pressure, and worsen health problems related to high blood pressure. People with high blood pressure should talk with their health care provider about programs and products they can use to quit smoking. + +Stress + +Learning how to manage stress, relax, and cope with problems can improve emotional and physical health. Some activities that may help reduce stress include + +- exercising - practicing yoga or tai chi - listening to music - focusing on something calm or peaceful - meditating",NIDDK,High Blood Pressure and Kidney Disease +What to do for High Blood Pressure and Kidney Disease ?,"- Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. - High blood pressure can damage blood vessels in the kidneys, reducing their ability to work properly. When the force of blood flow is high, blood vessels stretch so blood flows more easily. Eventually, this stretching scars and weakens blood vessels throughout the body, including those in the kidneys. - High blood pressure is the second leading cause of kidney failure in the United States after diabetes. - A health care provider diagnoses high blood pressure when multiple blood pressure testsoften repeated over several visits to a health care providers officeshow that a systolic blood pressure is consistently above 140 or a diastolic blood pressure is consistently above 90. - Kidney disease is diagnosed with urine and blood tests. - The best way to slow or prevent kidney damage from high blood pressure is to take steps to lower blood pressure. These steps include a combination of medication and lifestyle changes, such as - healthy eating - physical activity - maintaining a healthy weight - quitting smoking - managing stress - No matter what the cause of the kidney disease, high blood pressure can increase damage to the kidneys. People with kidney disease should keep their blood pressure below 140/90.",NIDDK,High Blood Pressure and Kidney Disease +What is (are) Goodpasture Syndrome ?,"Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses involving the kidneys and lungs. Goodpasture syndrome includes all of the following conditions: + +- glomerulonephritisinflammation of the glomeruli, which are tiny clusters of looping blood vessels in the kidneys that help filter wastes and extra water from the blood - the presence of anti-glomerular basement membrane (GBM) antibodies; the GBM is part of the glomeruli and is composed of collagen and other proteins - bleeding in the lungs + +In Goodpasture syndrome, immune cells produce antibodies against a specific region of collagen. The antibodies attack the collagen in the lungs and kidneys. + +Ernest Goodpasture first described the syndrome during the influenza pandemic of 1919 when he reported on a patient who died from bleeding in the lungs and kidney failure. Diagnostic tools to confirm Goodpasture syndrome were not available at that time, so it is not known whether the patient had true Goodpasture syndrome or vasculitis. Vasculitis is an autoimmune conditiona disorder in which the bodys immune system attacks the bodys own cells and organsthat involves inflammation in the blood vessels and can cause similar lung and kidney problems. + +Goodpasture syndrome is sometimes called anti-GBM disease. However, anti-GBM disease is only one cause of pulmonary-renal syndromes, including Goodpasture syndrome. + +Goodpasture syndrome is fatal unless quickly diagnosed and treated.",NIDDK,Goodpasture Syndrome +What causes Goodpasture Syndrome ?,"The causes of Goodpasture syndrome are not fully understood. People who smoke or use hair dyes appear to be at increased risk for this condition. Exposure to hydrocarbon fumes, metallic dust, and certain drugs, such as cocaine, may also raise a persons risk. Genetics may also play a part, as a small number of cases have been reported in more than one family member.",NIDDK,Goodpasture Syndrome +What are the symptoms of Goodpasture Syndrome ?,"The symptoms of Goodpasture syndrome may initially include fatigue, nausea, vomiting, and weakness. The lungs are usually affected before or at the same time as the kidneys, and symptoms can include shortness of breath and coughing, sometimes with blood. The progression from initial symptoms to the lungs being affected may be very rapid. Symptoms that occur when the kidneys are affected include blood in the urine or foamy urine, swelling in the legs, and high blood pressure.",NIDDK,Goodpasture Syndrome +How to diagnose Goodpasture Syndrome ?,"A health care provider may order the following tests to diagnose Goodpasture syndrome: + +- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein or blood are present in urine. A high number of red blood cells and high levels of protein in the urine indicate kidney damage. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of anti-GBM antibodies. - Chest x ray. An x ray of the chest is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Abnormalities in the lungs, if present, can be seen on the x ray. - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. The tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test can show crescent-shaped changes in the glomeruli and lines of antibodies attached to the GBM.",NIDDK,Goodpasture Syndrome +What are the treatments for Goodpasture Syndrome ?,"Goodpasture syndrome is usually treated with + +- immunosuppressive medications, such as cyclophosphamide, to keep the immune system from making antibodies - corticosteroid medications to suppress the bodys autoimmune response - plasmapheresisa procedure that uses a machine to remove blood from the body, separate certain cells from the plasma, and return just the cells to the persons body; the anti-GBM antibodies remain in the plasma and are not returned to the persons body + +Plasmapheresis is usually continued for several weeks, and immunosuppressive medications may be given for 6 to 12 months, depending on the response to therapy. In most cases, bleeding in the lungs stops and no permanent lung damage occurs. Damage to the kidneys, however, may be long lasting. If the kidneys fail, blood-filtering treatments called dialysis or kidney transplantation may become necessary.",NIDDK,Goodpasture Syndrome +What to do for Goodpasture Syndrome ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome.",NIDDK,Goodpasture Syndrome +What to do for Goodpasture Syndrome ?,"- Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses involving the kidneys and lungs. Goodpasture syndrome includes all of the following conditions: - glomerulonephritis - the presence of anti-glomerular basement membrane (GBM) antibodies - bleeding in the lungs - Goodpasture syndrome is fatal unless quickly diagnosed and treated. - People who smoke or use hair dyes appear to be at increased risk for this condition. Exposure to hydrocarbon fumes, metallic dust, and certain drugs may also raise a persons risk. - The symptoms of Goodpasture syndrome may initially include fatigue, nausea, vomiting, and weakness. The lungs are usually affected before or at the same time as the kidneys, and symptoms can include shortness of breath and coughing, sometimes with blood. Symptoms that occur when the kidneys are affected include blood in the urine or foamy urine, swelling in the legs, and high blood pressure. - A urinalysis, blood test, chest x ray, and kidney biopsy are used to diagnose Goodpasture syndrome. - Goodpasture syndrome is usually treated with immunosuppressive medications, corticosteroid medications, and plasmapheresis.",NIDDK,Goodpasture Syndrome +What are the symptoms of Prevent diabetes problems: Keep your eyes healthy ?,"Often, no symptoms appear during the early stages of diabetes retina problems. As retina problems worsen, your symptoms might include + +- blurry or double vision - rings, flashing lights, or blank spots in your vision - dark or floating spots in your vision - pain or pressure in one or both of your eyes - trouble seeing things out of the corners of your eyes",NIDDK,Prevent diabetes problems: Keep your eyes healthy +What are the treatments for Prevent diabetes problems: Keep your eyes healthy ?,"You can help your diabetes retina problems by controlling your + +- blood glucose - blood pressure - cholesterol and triglycerides, or types of blood fat + +If your retinopathy still does not improve, then you may need other treatments. You will need to see an ophthalmologist who can decide whether you need one of these treatments: + +- Medicines. Your doctor treats macular edema with injections of medicines into the eye. These medicines block a protein in the body that causes abnormal blood vessel growth and fluid leakage. Reducing the fluid leakage often allows the retina to return to normal thickness. The ophthalmologist will numb your eye and then insert a tiny needle to deliver the medicine. - Laser treatment. Your doctor can also treat macular edema with focal laser treatment. In one visit, the ophthalmologist will numb your eye and place many small laser burns in the areas leaking fluid near the macula. These burns slow the leakage of fluid and reduce the amount of fluid in your retina. Sometimes your doctor also treats diabetic retinopathy with scatter laser treatment. In two or more visits, the ophthalmologist will numb your eye and place thousands of laser burns around the new, weak blood vessels away from the macula, causing them to shrink. Laser treatment can greatly reduce your chances of blindness from retina damage. However, laser treatment often cannot restore vision that has already been lost. Treatment with medicines or lasers can be performed in your ophthalmologists office. - Vitrectomy. If the bleeding in your eye is severe, you may need to go to the hospital for a surgery called a vitrectomy. Your ophthalmologist will numb your eye or give you general anesthesia to help you fall asleep. The ophthalmologist will make a tiny cut in your eye and remove the vitreous gel that is clouded with blood. The ophthalmologist replaces the vitreous gel with a salt solution.",NIDDK,Prevent diabetes problems: Keep your eyes healthy +What is (are) Urinary Tract Infections in Children ?,"A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. However, sometimes bacteria overcome the bodys natural defenses and cause infection. An infection in the urethra is called urethritis. A bladder infection is called cystitis. Bacteria may travel up the ureters to multiply and infect the kidneys. A kidney infection is called pyelonephritis.",NIDDK,Urinary Tract Infections in Children +What is (are) Urinary Tract Infections in Children ?,"The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. Routinely, urine drains in only one directionfrom the kidneys to the bladder. The bladder fills with urine until it is full enough to signal the need to urinate. In children, the bladder can hold about 2 ounces of urine plus 1 ounce for each year of age. For example, an 8-year-olds bladder can hold about 10 ounces of urine. + +When the bladder empties, a muscle called the sphincter relaxes and urine flows out of the body through a tube called the urethra at the bottom of the bladder. The opening of the urethra is at the end of the penis in boys and in front of the vagina in girls.",NIDDK,Urinary Tract Infections in Children +What causes Urinary Tract Infections in Children ?,"Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. Immune defenses also prevent infection. But despite these safeguards, infections still occur. Certain bacteria have a strong ability to attach themselves to the lining of the urinary tract. + +Children who often delay urination are more likely to develop UTIs. Regular urination helps keep the urinary tract sterile by flushing away bacteria. Holding in urine allows bacteria to grow. Producing too little urine because of inadequate fluid intake can also increase the risk of developing a UTI. Chronic constipationa condition in which a child has fewer than two bowel movements a weekcan add to the risk of developing a UTI. When the bowel is full of hard stool, it presses against the bladder and bladder neck, blocking the flow of urine and allowing bacteria to grow. + +Some children develop UTIs because they are prone to such infections, just as other children are prone to getting coughs, colds, or ear infections.",NIDDK,Urinary Tract Infections in Children +How many people are affected by Urinary Tract Infections in Children ?,Urinary tract infections affect about 3 percent of children in the United States every year. UTIs account for more than 1 million visits to pediatricians offices every year.1,NIDDK,Urinary Tract Infections in Children +Who is at risk for Urinary Tract Infections in Children? ?,"Throughout childhood, the risk of having a UTI is 2 percent for boys and 8 percent for girls. Having an anomaly of the urinary tract, such as urine reflux from the bladder back into the ureters, increases the risk of a UTI. Boys who are younger than 6 months old who are not circumcised are at greater risk for a UTI than circumcised boys the same age.1",NIDDK,Urinary Tract Infections in Children +What are the symptoms of Urinary Tract Infections in Children ?,"Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. A UTI causes irritation of the lining of the bladder, urethra, ureters, and kidneys, just as the inside of the nose or the throat becomes irritated with a cold. In infants or children who are only a few years old, the signs of a UTI may not be clear because children that young cannot express exactly how they feel. Children may have a high fever, be irritable, or not eat. + +On the other hand, children may have only a low-grade fever; experience nausea, vomiting, and diarrhea; or just not seem healthy. Children who have a high fever and appear sick for more than a day without signs of a runny nose or other obvious cause for discomfort should be checked for a UTI. + +Older children with UTIs may complain of pain in the middle and lower abdomen. They may urinate often. Crying or complaining that it hurts to urinate and producing only a few drops of urine at a time are other signs of a UTI. Children may leak urine into clothing or bedsheets. The urine may look cloudy or bloody. If a kidney is infected, children may complain of pain in the back or side below the ribs. + +Parents should talk with their health care provider if they suspect their child has a UTI.",NIDDK,Urinary Tract Infections in Children +How to diagnose Urinary Tract Infections in Children ?,"Only a health care provider can determine whether a child has a UTI. + +A urine sample will be collected and examined. The way urine is collected depends on the childs age: + +- If the child is not yet toilet trained, the health care provider may place a plastic collection bag over the childs genital area. The bag will be sealed to the skin with an adhesive strip. If this method is used, the bag should be removed right after the child has urinated, and the urine sample should be processed immediately. Because bacteria from the skin can contaminate this sample, the methods listed below are more accurate. - A health care provider may need to pass a small tube called a catheter into the urethra of an infant. Urine will drain directly from the bladder into a clean container. - Sometimes the best way to collect a urine sample from an infant is by placing a needle directly into the bladder through the skin of the lower abdomen. Getting urine through a catheter or needle will ensure that the urine collected does not contain bacteria from the skin. - An older child may be asked to urinate into a container. The sample needs to come as directly into the container as possible to avoid picking up bacteria from the skin or rectal area. + +Some of the urine will be examined with a microscope. If an infection is present, bacteria and sometimes pus will be found in the urine. A urine culture should also be performed on some of the urine. The culture is performed by placing part of the urine sample in a tube or dish with a substance that encourages any bacteria present to grow. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. + +The reliability of the culture depends on how the urine is collected and how long the urine stands before the culture is started. If the urine sample is collected at home, it should be refrigerated as soon as it is collected. The container should be carried to the health care provider or lab in a plastic bag filled with ice. + +The health care provider may also order a sensitivity test, which tests the bacteria for sensitivity to different antibiotics to see which medication is best for treating the infection.",NIDDK,Urinary Tract Infections in Children +What are the treatments for Urinary Tract Infections in Children ?,"Most UTIs are caused by bacteria, which are treated with bacteria-fighting medications called antibiotics or antimicrobials. While a urine sample is sent to a laboratory, the health care provider may begin treatment with an antibiotic that treats the bacteria most likely to be causing the infection. Once culture results are known, the health care provider may decide to switch the childs antibiotic. + +The choice of medication and length of treatment depend on the childs history and the type of bacteria causing the infection. When a child is sick or unable to drink fluids, the antibiotic may need to be put directly into the bloodstream through a vein in the arm or hand or be given as an injection. Otherwise, the medicationliquid or pillsmay be given by mouth. The medication is given for at least 3 to 5 days and possibly for as long as several weeks. The daily treatment schedule recommended depends on the specific medication prescribed: The schedule may call for a single dose each day or up to four doses each day. In some cases, a child will need to take the medication until further tests are finished. + +After a few doses of the antibiotic, a child may appear much better, but often several days may pass before all symptoms are gone. In any case, the medication should be taken for as long as the health care provider recommends. Medications should not be stopped because the symptoms have gone away. Infections may return, and bacteria can resist future treatment if the medication is stopped too soon. + +If needed, the health care provider may recommend an appropriate over-the-counter medication to relieve the pain of a UTI. A heating pad on the back or abdomen may also help.",NIDDK,Urinary Tract Infections in Children +How to diagnose Urinary Tract Infections in Children ?,"Once the infection has cleared, more tests may be recommended to check for abnormalities in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of urinary infection. Because no single test can tell everything about the urinary tract that might be important, more than one of the tests listed below may be needed. + +- Kidney and bladder ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show certain abnormalities in the kidneys and bladder. However, this test cannot reveal all important urinary abnormalities or measure how well the kidneys work. - Voiding cystourethrogram. This test is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The childs bladder and urethra are filled with a special dye, called contrast medium, to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the child urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some children. This test can show abnormalities of the inside of the urethra and bladder. The test can also determine whether the flow of urine is normal when the bladder empties. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can provide clearer, more detailed images to help the health care provider understand the problem. - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the child lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the child to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed, though light sedation may be used for children with a fear of confined spaces. Like CT scans, MRIs can provide clearer, more detailed images. - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radionuclide scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Radioactive chemicals injected into the blood can provide information about kidney function. Radioactive chemicals can also be put into the fluids used to fill the bladder and urethra for x ray, MRI, and CT imaging. Radionuclide scans expose a child to about the same amount or less of radiation as a conventional x ray. - Urodynamics. Urodynamic testing is any procedure that looks at how well the bladder, sphincters, and urethra are storing and releasing urine. Most of these tests are performed in the office of a urologista doctor who specializes in urinary problemsby a urologist, physician assistant, or nurse practitioner. Some procedures may require light sedation to keep the child calm. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely. Urodynamic tests can also show whether the bladder is having abnormal contractions that cause leakage. A health care provider may order these tests if there is evidence that the child has some kind of nerve damage or dysfunctional voidingunhealthy urination habits such as holding in urine when the bladder is full.",NIDDK,Urinary Tract Infections in Children +What are the treatments for Urinary Tract Infections in Children ?,"Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision. + +In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.",NIDDK,Urinary Tract Infections in Children +How to prevent Urinary Tract Infections in Children ?,"If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria from entering the urinary tract. Loose-fitting clothes and cotton underwear allow air to dry the area. Parents should consult a health care provider about the best ways to treat constipation.",NIDDK,Urinary Tract Infections in Children +What to do for Urinary Tract Infections in Children ?,Children with a UTI should drink as much as they wish and not be forced to drink large amounts of fluid. The health care provider needs to know if a child is not interested in drinking or is unable to drink.,NIDDK,Urinary Tract Infections in Children +What to do for Urinary Tract Infections in Children ?,"- Urinary tract infections (UTIs) usually occur when the body fails to remove bacteria rapidly from the urinary tract. - UTIs affect about 3 percent of children in the United States every year. - Most UTIs are not serious, but chronic kidney infections can cause permanent damage. - A UTI in a young child may be a sign of an abnormality in the urinary tract that could lead to repeated problems. - Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. - Parents should talk with their health care provider if they suspect their child has a UTI.",NIDDK,Urinary Tract Infections in Children +What to do for Facing the Challenges of Chronic Kidney Disease in Children ?,"For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes. Staying healthy with CKD requires paying close attention to the following elements of a diet: + +- Protein. Children with CKD should eat enough protein for growth while limiting high protein intake. Too much protein can put an extra burden on the kidneys and cause kidney function to decline faster. Protein needs increase when a child is on dialysis because the dialysis process removes protein from the childs blood. The health care team recommends the amount of protein needed for the child. Foods with protein include - eggs - milk - cheese - chicken - fish - red meats - beans - yogurt - cottage cheese - Sodium. The amount of sodium children need depends on the stage of their kidney disease, their age, and sometimes other factors. The health care team may recommend limiting or adding sodium and salt to the diet. Foods high in sodium include - canned foods - some frozen foods - most processed foods - some snack foods, such as chips and crackers - Potassium. Potassium levels need to stay in the normal range for children with CKD, because too little or too much potassium can cause heart and muscle problems. Children may need to stay away from some fruits and vegetables or reduce the number of servings and portion sizes to make sure they do not take in too much potassium. The health care team recommends the amount of potassium a child needs. Low-potassium fruits and vegetables include - apples - cranberries - strawberries - blueberries - raspberries - pineapple - cabbage - boiled cauliflower - mustard greens - uncooked broccoli High-potassium fruits and vegetables include - oranges - melons - apricots - bananas - potatoes - tomatoes - sweet potatoes - cooked spinach - cooked broccoli - Phosphorus. Children with CKD need to control the level of phosphorus in their blood because too much phosphorus pulls calcium from the bones, making them weaker and more likely to break. Too much phosphorus also can cause itchy skin and red eyes. As CKD progresses, a child may need to take a phosphate binder with meals to lower the concentration of phosphorus in the blood. Phosphorus is found in high-protein foods. Foods with low levels of phosphorus include - liquid nondairy creamer - green beans - popcorn - unprocessed meats from a butcher - lemon-lime soda - root beer - powdered iced tea and lemonade mixes - rice and corn cereals - egg whites - sorbet - Fluids. Early in CKD, a childs damaged kidneys may produce either too much or too little urine, which can lead to swelling or dehydration. As CKD progresses, children may need to limit fluid intake. The health care provider will tell the child and parents or guardians the goal for fluid intake. + +More information is provided in the NIDDK health topics, Nutrition for Chronic Kidney Disease in Children and Kidney Failure: Eat Right to Feel Right on Hemodialysis.",NIDDK,Facing the Challenges of Chronic Kidney Disease in Children +What to do for Facing the Challenges of Chronic Kidney Disease in Children ?,"- Children with chronic kidney disease (CKD) may have a negative self-image and may have relationship problems with family members due to the stress of living with a chronic disease. The condition can lead to behavior problems and make participating in school and extracurricular activities more difficult. - CKD can cause learning problems because the buildup of wastes in the body can slow down nerve and brain function. Children with CKD may have trouble concentrating and may develop language and motor skills more slowly than their peers. - Parents and other adults can help children with CKD fit in at school, deal with low self-esteem, make friends, be physically active, and follow their treatment regimen. As children with CKD approach adulthood, they may need help with preparing to enter the workforce. - School attendance is vital in helping children with CKD lead the best life possible. - One way to help children feel empowered is to give them as much control and responsibility over their own care as possible: - Children can learn more about their medications, including doses. - Children on dialysis should be encouraged to take an active part in their treatments. - Parents or guardians should allow children to participate in treatment decision making. - Participating in regular classroom and extracurricular activities may help children improve their social skills. Summer camps and recreational programs for children with special needs can be a good place to make new friends. - Parents or guardians may feel protective of children with CKD; however, they should not try to limit activities unless instructed to by a health care provider. - Children with CKD may need to take multiple medications, eat a specific diet, and follow their health care providers orders to help control their disease. Many children have a hard time following the treatment regimen. Health care providers use the term nonadherence to describe the failure or refusal to take prescribed medications or follow a health care providers directions. - Adherence can be improved with a combination of health education, motivational techniques, and behavioral skill methods. - Many skilled professionals are available to ensure that children with CKD get the best possible care. The family may want to talk with a social worker, mental health professional, financial counselor, and dietitian. If a child reaches kidney failure, the medical staff at the dialysis center or transplantation clinic can provide help. - For children with CKD, learning about nutrition is vital because their diet can affect how well their kidneys work. Parents or guardians should always consult with their childs health care team before making any dietary changes.",NIDDK,Facing the Challenges of Chronic Kidney Disease in Children +What is (are) Foodborne Illnesses ?,"Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. Common symptoms of foodborne illnesses include vomiting, diarrhea, abdominal pain, fever, and chills. + +Most foodborne illnesses are acute, meaning they happen suddenly and last a short time, and most people recover on their own without treatment. Rarely, foodborne illnesses may lead to more serious complications. Each year, an estimated 48 million people in the United States experience a foodborne illness. Foodborne illnesses cause about 3,000 deaths in the United States annually.1",NIDDK,Foodborne Illnesses +What causes Foodborne Illnesses ?,"The majority of foodborne illnesses are caused by harmful bacteria and viruses.2 Some parasites and chemicals also cause foodborne illnesses. + +Bacteria + +Bacteria are tiny organisms that can cause infections of the GI tract. Not all bacteria are harmful to humans. + +Some harmful bacteria may already be present in foods when they are purchased. Raw foods including meat, poultry, fish and shellfish, eggs, unpasteurized milk and dairy products, and fresh produce often contain bacteria that cause foodborne illnesses. Bacteria can contaminate foodmaking it harmful to eatat any time during growth, harvesting or slaughter, processing, storage, and shipping. + +Foods may also be contaminated with bacteria during food preparation in a restaurant or home kitchen. If food preparers do not thoroughly wash their hands, kitchen utensils, cutting boards, and other kitchen surfaces that come into contact with raw foods, cross-contaminationthe spread of bacteria from contaminated food to uncontaminated foodmay occur. + +If hot food is not kept hot enough or cold food is not kept cold enough, bacteria may multiply. Bacteria multiply quickly when the temperature of food is between 40 and 140 degrees. Cold food should be kept below 40 degrees and hot food should be kept above 140 degrees. Bacteria multiply more slowly when food is refrigerated, and freezing food can further slow or even stop the spread of bacteria. However, bacteria in refrigerated or frozen foods become active again when food is brought to room temperature. Thoroughly cooking food kills bacteria. + +Many types of bacteria cause foodborne illnesses. Examples include + +- Salmonella, a bacterium found in many foods, including raw and undercooked meat, poultry, dairy products, and seafood. Salmonella may also be present on egg shells and inside eggs. - Campylobacter jejuni (C. jejuni), found in raw or undercooked chicken and unpasteurized milk. - Shigella, a bacterium spread from person to person. These bacteria are present in the stools of people who are infected. If people who are infected do not wash their hands thoroughly after using the bathroom, they can contaminate food that they handle or prepare. Water contaminated with infected stools can also contaminate produce in the field. - Escherichia coli (E. coli), which includes several different strains, only a few of which cause illness in humans. E. coli O157:H7 is the strain that causes the most severe illness. Common sources of E. coli include raw or undercooked hamburger, unpasteurized fruit juices and milk, and fresh produce. - Listeria monocytogenes (L. monocytogenes), which has been found in raw and undercooked meats, unpasteurized milk, soft cheeses, and ready-to-eat deli meats and hot dogs. - Vibrio, a bacterium that may contaminate fish or shellfish. - Clostridium botulinum (C. botulinum), a bacterium that may contaminate improperly canned foods and smoked and salted fish. + +Viruses + +Viruses are tiny capsules, much smaller than bacteria, that contain genetic material. Viruses cause infections that can lead to sickness. People can pass viruses to each other. Viruses are present in the stool or vomit of people who are infected. People who are infected with a virus may contaminate food and drinks, especially if they do not wash their hands thoroughly after using the bathroom. + +Common sources of foodborne viruses include + +- food prepared by a person infected with a virus - shellfish from contaminated water - produce irrigated with contaminated water + +Common foodborne viruses include + +- norovirus, which causes inflammation of the stomach and intestines - hepatitis A, which causes inflammation of the liver + +Parasites + +Parasites are tiny organisms that live inside another organism. In developed countries such as the United States, parasitic infections are relatively rare. + +Cryptosporidium parvum and Giardia intestinalis are parasites that are spread through water contaminated with the stools of people or animals who are infected. Foods that come into contact with contaminated water during growth or preparation can become contaminated with these parasites. Food preparers who are infected with these parasites can also contaminate foods if they do not thoroughly wash their hands after using the bathroom and before handling food. + +Trichinella spiralis is a type of roundworm parasite. People may be infected with this parasite by consuming raw or undercooked pork or wild game. + +Chemicals + +Harmful chemicals that cause illness may contaminate foods such as + +- fish or shellfish, which may feed on algae that produce toxins, leading to high concentrations of toxins in their bodies. Some types of fish, including tuna and mahi mahi, may be contaminated with bacteria that produce toxins if the fish are not properly refrigerated before they are cooked or served. - certain types of wild mushrooms. - unwashed fruits and vegetables that contain high concentrations of pesticides.",NIDDK,Foodborne Illnesses +Who is at risk for Foodborne Illnesses? ?,"Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including + +- infants and children - pregnant women and their fetuses - older adults - people with weak immune systems + +These groups also have a greater risk of developing severe symptoms or complications of foodborne illnesses.",NIDDK,Foodborne Illnesses +What are the symptoms of Foodborne Illnesses ?,"Symptoms of foodborne illnesses depend on the cause. Common symptoms of many foodborne illnesses include + +- vomiting - diarrhea or bloody diarrhea - abdominal pain - fever - chills + +Symptoms can range from mild to serious and can last from a few hours to several days. + +C. botulinum and some chemicals affect the nervous system, causing symptoms such as + +- headache - tingling or numbness of the skin - blurred vision - weakness - dizziness - paralysis",NIDDK,Foodborne Illnesses +What are the complications of Foodborne Illnesses ?,"Foodborne illnesses may lead to dehydration, hemolytic uremic syndrome (HUS), and other complications. Acute foodborne illnesses may also lead to chronicor long lastinghealth problems. + +Dehydration + +When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. When dehydrated, the body lacks enough fluid and electrolytesminerals in salts, including sodium, potassium, and chlorideto function properly. Infants, children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated. + +Signs of dehydration are + +- excessive thirst - infrequent urination - dark-colored urine - lethargy, dizziness, or faintness + +Signs of dehydration in infants and young children are + +- dry mouth and tongue - lack of tears when crying - no wet diapers for 3 hours or more - high fever - unusually cranky or drowsy behavior - sunken eyes, cheeks, or soft spot in the skull + +Also, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released. + +Severe dehydration may require intravenous fluids and hospitalization. Untreated severe dehydration can cause serious health problems such as organ damage, shock, or comaa sleeplike state in which a person is not conscious. + +HUS + +Hemolytic uremic syndrome is a rare disease that mostly affects children younger than 10 years of age. HUS develops when E. coli bacteria lodged in the digestive tract make toxins that enter the bloodstream. The toxins start to destroy red blood cells, which help the blood to clot, and the lining of the blood vessels. + +In the United States, E. coli O157:H7 infection is the most common cause of HUS, but infection with other strains of E. coli, other bacteria, and viruses may also cause HUS. A recent study found that about 6 percent of people with E. coli O157:H7 infections developed HUS. Children younger than age 5 have the highest risk, but females and people age 60 and older also have increased risk.3 + +Symptoms of E. coli O157:H7 infection include diarrhea, which may be bloody, and abdominal pain, often accompanied by nausea, vomiting, and fever. Up to a week after E. coli symptoms appear, symptoms of HUS may develop, including irritability, paleness, and decreased urination. HUS may lead to acute renal failure, which is a sudden and temporary loss of kidney function. HUS may also affect other organs and the central nervous system. Most people who develop HUS recover with treatment. Research shows that in the United States between 2000 and 2006, fewer than 5 percent of people who developed HUS died of the disorder. Older adults had the highest mortality rateabout one-third of people age 60 and older who developed HUS died.3 + +Studies have shown that some children who recover from HUS develop chronic complications, including kidney problems, high blood pressure, and diabetes. + +Other Complications + +Some foodborne illnesses lead to other serious complications. For example, C. botulinum and certain chemicals in fish and seafood can paralyze the muscles that control breathing. L. monocytogenes can cause spontaneous abortion or stillbirth in pregnant women. + +Research suggests that acute foodborne illnesses may lead to chronic disorders, including + +- reactive arthritis, a type of joint inflammation that usually affects the knees, ankles, or feet. Some people develop this disorder following foodborne illnesses caused by certain bacteria, including C. jejuni and Salmonella. Reactive arthritis usually lasts fewer than 6 months, but this condition may recur or become chronic arthritis.4 - irritable bowel syndrome (IBS), a disorder of unknown cause that is associated with abdominal pain, bloating, and diarrhea or constipation or both. Foodborne illnesses caused by bacteria increase the risk of developing IBS.5 - Guillain-Barr syndrome, a disorder characterized by muscle weakness or paralysis that begins in the lower body and progresses to the upper body. This syndrome may occur after foodborne illnesses caused by bacteria, most commonly C. jejuni. Most people recover in 6 to 12 months.6 + +A recent study found that adults who had recovered from E. coli O157:H7 infections had increased risks of high blood pressure, kidney problems, and cardiovascular disease.7",NIDDK,Foodborne Illnesses +How to diagnose Foodborne Illnesses ?,"To diagnose foodborne illnesses, health care providers ask about symptoms, foods and beverages recently consumed, and medical history. Health care providers will also perform a physical examination to look for signs of illness. + +Diagnostic tests for foodborne illnesses may include a stool culture, in which a sample of stool is analyzed in a laboratory to check for signs of infections or diseases. A sample of vomit or a sample of the suspected food, if available, may also be tested. A health care provider may perform additional medical tests to rule out diseases and disorders that cause symptoms similar to the symptoms of foodborne illnesses. + +If symptoms of foodborne illnesses are mild and last only a short time, diagnostic tests are usually not necessary.",NIDDK,Foodborne Illnesses +What are the treatments for Foodborne Illnesses ?,"The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. + +Over-the-counter medications such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrheaa sign of bacterial or parasitic infectionshould not use these medications. If diarrhea is caused by bacteria or parasites, over-the-counter medications may prolong the problem. Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given with a health care providers guidance. + +If the specific cause of the foodborne illness is diagnosed, a health care provider may prescribe medications, such as antibiotics, to treat the illness. + +Hospitalization may be required to treat lifethreatening symptoms and complications, such as paralysis, severe dehydration, and HUS.",NIDDK,Foodborne Illnesses +What to do for Foodborne Illnesses ?,"The following steps may help relieve the symptoms of foodborne illnesses and prevent dehydration in adults: + +- drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete + +Infants and children present special concerns. Infants and children are likely to become dehydrated more quickly from diarrhea and vomiting because of their smaller body size. The following steps may help relieve symptoms and prevent dehydration in infants and children: + +- giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration - giving food as soon as the child is hungry - giving infants breast milk or fullstrength formula, as usual, along with oral rehydration solutions + +Older adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.",NIDDK,Foodborne Illnesses +How to prevent Foodborne Illnesses ?,"Foodborne illnesses can be prevented by properly storing, cooking, cleaning, and handling foods. + +- Raw and cooked perishable foodsfoods that can spoilshould be refrigerated or frozen promptly. If perishable foods stand at room temperature for more than 2 hours, they may not be safe to eat. Refrigerators should be set at 40 degrees or lower and freezers should be set at 0 degrees. - Foods should be cooked long enough and at a high enough temperature to kill the harmful bacteria that cause illnesses. A meat thermometer should be used to ensure foods are cooked to the appropriate internal temperature: - 145 degrees for roasts, steaks, and chops of beef, veal, pork, and lamb, followed by 3 minutes of rest time after the meat is removed from the heat source - 160 degrees for ground beef, veal, pork, and lamb - 165 degrees for poultry - Cold foods should be kept cold and hot foods should be kept hot. - Fruits and vegetables should be washed under running water just before eating, cutting, or cooking. A produce brush can be used under running water to clean fruits and vegetables with firm skin. - Raw meat, poultry, seafood, and their juices should be kept away from other foods. - People should wash their hands for at least 20 seconds with warm, soapy water before and after handling raw meat, poultry, fish, shellfish, produce, or eggs. People should also wash their hands after using the bathroom, changing diapers, or touching animals. - Utensils and surfaces should be washed with hot, soapy water before and after they are used to prepare food. Diluted bleach1 teaspoon of bleach to 1 quart of hot watercan also be used to sanitize utensils and surfaces. + +More information about preventing foodborne illnesses is available at www.foodsafety.gov.",NIDDK,Foodborne Illnesses +What to do for Foodborne Illnesses ?,"- Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. - Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including infants and children, pregnant women and their fetuses, older adults, and people with weakened immune systems. - Symptoms of foodborne illnesses depend on the cause. Common symptoms of many foodborne illnesses include vomiting, diarrhea or bloody diarrhea, abdominal pain, fever, and chills. - Foodborne illnesses may lead to dehydration, hemolytic uremic syndrome (HUS), and other complications. Acute foodborne illnesses may also lead to chronicor long lastinghealth problems. - The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. - Foodborne illnesses can be prevented by properly storing, cooking, cleaning, and handling foods.",NIDDK,Foodborne Illnesses +What is (are) Hypothyroidism ?,"Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolismthe way the body uses energyand affects nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. About 4.6 percent of the U.S. population age 12 and older has hypothyroidism.1",NIDDK,Hypothyroidism +What is (are) Hypothyroidism ?,"The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. + +The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.",NIDDK,Hypothyroidism +What causes Hypothyroidism ?,"Hypothyroidism has several causes, including + +- Hashimotos disease - thyroiditis, or inflammation of the thyroid - congenital hypothyroidism, or hypothyroidism that is present at birth - surgical removal of part or all of the thyroid - radiation treatment of the thyroid - some medications + +Less commonly, hypothyroidism is caused by too much or too little iodine in the diet or by abnormalities of the pituitary gland. + +Hashimotos Disease + +Hashimotos disease, also called chronic lymphocytic thyroiditis, is the most common cause of hypothyroidism in the United States.1 Hashimotos disease is a form of chronic inflammation of the thyroid gland. Hashimotos disease is also an autoimmune disorder. + +Normally, the immune system protects the body against foreign invaderssuch as viruses and bacteriathat can cause illness. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. With Hashimotos disease, the immune system attacks the thyroid, causing inflammation and interfering with its ability to produce thyroid hormones. + +More information is provided in the NIDDK health topic, Hashimotos Disease. + +Thyroiditis + +Thyroiditis causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidismwhen thyroid hormone levels are too highthat lasts for 1 or 2 months. Most people then develop hypothyroidism before the thyroid is completely healed. + +Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism: + +- Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism. + +Congenital Hypothyroidism + +Some babies are born with a thyroid that is not fully developed or does not function properly. If untreated, congenital hypothyroidism can lead to mental retardation and growth failure. Early treatment can prevent these complications, so most newborns in the United States are screened for hypothyroidism. + +Surgical Removal of the Thyroid + +When part of the thyroid is removed, the remaining part may produce normal amounts of thyroid hormone, but some people who have this surgery develop hypothyroidism. Removal of the entire thyroid always results in hypothyroidism. + +Part or all of the thyroid may be surgically removed as a treatment for + +- hyperthyroidism - a large goiter, which is an enlarged thyroid that may cause the neck to appear swollen and can interfere with normal breathing and swallowing - thyroid nodules, which are noncancerous tumors, called adenomas, or lumps in the thyroid that can produce excess thyroid hormone - thyroid cancer + +Radiation Treatment of the Thyroid + +Radioactive iodine, a common treatment for hyperthyroidism, gradually destroys the cells of the thyroid. Most people who receive radioactive iodine treatment eventually develop hypothyroidism. People with Hodgkins disease, other lymphomas, and head or neck cancers are treated with radiation, which can also damage the thyroid. + +Medications + +Some drugs can interfere with thyroid hormone production and lead to hypothyroidism, including + +- amiodarone, a heart medication - interferon alpha, a cancer medication - lithium, a bipolar disorder medication - interleukin-2, a kidney cancer medication",NIDDK,Hypothyroidism +What are the symptoms of Hypothyroidism ?,"Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are + +- fatigue - weight gain - a puffy face - cold intolerance - joint and muscle pain - constipation - dry skin - dry, thinning hair - decreased sweating - heavy or irregular menstrual periods and impaired fertility - depression - slowed heart rate + +However, hypothyroidism develops slowly, so many people dont notice symptoms of the disease. + +Symptoms more specific to Hashimotos disease are a goiter and a feeling of fullness in the throat. + +Hypothyroidism can contribute to high cholesterol, so people with high cholesterol should be tested for hypothyroidism. Rarely, severe, untreated hypothyroidism may lead to myxedema coma, an extreme form of hypothyroidism in which the bodys functions slow to the point that it becomes life threatening. Myxedema requires immediate medical treatment.",NIDDK,Hypothyroidism +How to diagnose Hypothyroidism ?,"Many symptoms of hypothyroidism are the same as those of other diseases, so hypothyroidism usually cannot be diagnosed based on symptoms alone. With suspected hypothyroidism, health care providers take a medical history and perform a thorough physical examination. Health care providers may then use several blood tests to confirm a diagnosis of hypothyroidism and find its cause: + +TSH test. The ultrasensitive TSH test is usually the first test a health care provider performs. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. Generally, a TSH reading above normal means a person has hypothyroidism and a reading below normal means a person has hyperthyroidism. + +Mildly elevated TSH without symptoms indicates subclinical hypothyroidism. Some health care providers treat subclinical hypothyroidism immediately. Others prefer to leave it untreated but monitor their patients for signs that the condition is worsening. + +Health care providers may conduct additional tests to help confirm the diagnosis or determine the cause of hypothyroidism. + +T4 test. This test measures the actual amount of circulating thyroid hormone in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal. + +Thyroid autoantibody test. This test looks for the presence of thyroid autoantibodies. Most people with Hashimotos disease have these antibodies, but people whose hypothyroidism is caused by other conditions do not. + +More information about testing for thyroid problems is provided in the NIDDK health topic, Thyroid Tests.",NIDDK,Hypothyroidism +What are the treatments for Hypothyroidism ?,"Health care providers treat hypothyroidism with synthetic thyroxine, a medication that is identical to the hormone T4. The exact dose will depend on the patients age and weight, the severity of the hypothyroidism, the presence of other health problems, and whether the person is taking other drugs that might interfere with how well the body uses thyroid hormone. + +Health care providers test TSH levels about 6 to 8 weeks after a patient begins taking thyroid hormone and make any necessary adjustments to the dose. Each time the dose is adjusted, the blood is tested again. Once a stable dose is reached, blood tests are normally repeated in 6 months and then once a year. + +Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.",NIDDK,Hypothyroidism +What to do for Hypothyroidism ?,"Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition can be found on the National Agricultural Library website at www.nutrition.gov. + +Dietary Supplements + +Iodine is an essential mineral for the thyroid. However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hypothyroidism or hyperthyroidism. More information about iodine can be found in the National Library of Medicine fact sheet Iodine in diet, available at www.nlm.nih.gov/medlineplus/ency/article/002421.htm. + +Women need more iodine when they are pregnantabout 250 micrograms a day because the baby gets iodine from the mothers diet. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Choosing iodized salt salt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met. + +To help ensure coordinated and safe care, people should discuss their use of dietary supplements, such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.",NIDDK,Hypothyroidism +What to do for Hypothyroidism ?,"- Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolism. Without enough thyroid hormone, many of the bodys functions slow down. - Hypothyroidism has several causes, including - Hashimotos disease - thyroiditis - congenital hypothyroidism - surgical removal of part or all of the thyroid - radiation treatment of the thyroid - some medications - Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are fatigue, weight gain, cold intolerance, constipation, impaired fertility, and depression. - Women are much more likely than men to develop hypothyroidism. - Women with hypothyroidism should discuss their condition with their health care provider before becoming pregnant. - Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.",NIDDK,Hypothyroidism +What is (are) Medullary Sponge Kidney ?,"Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. + +In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus growth. In medullary sponge kidney, tiny, fluid-filled sacs called cysts form in the tubules within the medullathe inner part of the kidneycreating a spongelike appearance. The cysts keep urine from flowing freely through the tubules. + +Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys.",NIDDK,Medullary Sponge Kidney +What are the complications of Medullary Sponge Kidney ?,"Complications of medullary sponge kidney include + +- hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) + +Medullary sponge kidney rarely leads to more serious problems, such as chronic kidney disease or kidney failure.",NIDDK,Medullary Sponge Kidney +What causes Medullary Sponge Kidney ?,"Scientists do not fully understand the cause of medullary sponge kidney or why cysts form in the tubules during fetal development. Even though medullary sponge kidney is present at birth, most cases do not appear to be inherited.",NIDDK,Medullary Sponge Kidney +How many people are affected by Medullary Sponge Kidney ?,"Medullary sponge kidney affects about one person per 5,000 people in the United States. Researchers have reported that 12 to 20 percent of people who develop calcium-based kidney stones have medullary sponge kidney1.",NIDDK,Medullary Sponge Kidney +What are the symptoms of Medullary Sponge Kidney ?,"Many people with medullary sponge kidney have no symptoms. The first sign that a person has medullary sponge kidney is usually a UTI or a kidney stone. UTIs and kidney stones share many of the same signs and symptoms: + +- burning or painful urination - pain in the back, lower abdomen, or groin - cloudy, dark, or bloody urine - foul-smelling urine - fever and chills - vomiting + +People who experience these symptoms should see or call a health care provider as soon as possible.",NIDDK,Medullary Sponge Kidney +How to diagnose Medullary Sponge Kidney ?,"A health care provider diagnoses medullary sponge kidney based on + +- a medical and family history - a physical exam - imaging studies + +Medical and Family History + +Taking a medical and family history can help diagnose medullary sponge kidney. A health care provider will suspect medullary sponge kidney when a person has repeated UTIs or kidney stones. + +Physical Exam + +No physical signs are usually present in a patient with medullary sponge kidney, except for blood in the urine. Health care providers usually confirm a diagnosis of medullary sponge kidney with imaging studies. + +Imaging Studies + +Imaging is the medical term for tests that use different methods to see bones, tissues, and organs inside the body. Health care providers commonly choose one or more of three imaging techniques to diagnose medullary sponge kidney: + +- intravenous pyelogram - computerized tomography (CT) scan - ultrasound + +A radiologista doctor who specializes in medical imaginginterprets the images from these studies, and patients do not need anesthesia. + +Intravenous Pyelogram + +In an intravenous pyelogram, a health care provider injects a special dye, called contrast medium, into a vein in the patients arm. The contrast medium travels through the body to the kidneys. The kidneys excrete the contrast medium into urine, which makes the urine visible on an x-ray. An x-ray technician performs this procedure at a health care providers office, an outpatient center, or a hospital. An intravenous pyelogram can show any blockage in the urinary tract, and the cysts show up as clusters of light. + +Computerized Tomography Scans + +Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x-rays are taken. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show expanded or stretched tubules. + +Ultrasound + +Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital. Ultrasound can show kidney stones and calcium deposits within the kidney.",NIDDK,Medullary Sponge Kidney +What are the treatments for Medullary Sponge Kidney ?,"Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on + +- curing an existing UTI - removing any kidney stones + +Curing an Existing Urinary Tract Infection + +To treat a UTI, the health care provider may prescribe a medication called an antibiotic that kills bacteria. The choice of medication and length of treatment depend on the persons medical history and the type of bacteria causing the infection. More information is provided in the NIDDK health topic, Urinary Tract Infections in Adults. + +Removing Kidney Stones + +Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Kidney stones may be treated by a general practitioner or by a urologista doctor who specializes in the urinary tract. + +Small stones usually pass through the urinary tract without treatment. Still, the person may need pain medication and should drink lots of liquids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. People may need IV fluids if they become dehydrated from vomiting or an inability to drink. + +A person with a larger stone, or one that blocks urine flow and causes great pain, may need more urgent treatment, such as + +- shock wave lithotripsy. A machine called a lithotripter is used to break up the kidney stone into smaller pieces to pass more easily through the urinary tract. The patient may need local or general anesthesia. - ureteroscopy. A ureteroscopea long, tubelike instrument with an eyepieceis used to find and retrieve the stone with a small basket or to break the stone up with laser energy. Local or general anesthesia may be required. - percutaneous nephrolithotomy. In this procedure, a wire-thin viewing instrument, called a nephroscope, is used to locate and remove the stones. During the procedure, which requires general anesthesia, a tube is inserted directly into the kidney through a small incision in the patients back. + +More information is provided in the NIDDK health topic, Kidney Stones in Adults.",NIDDK,Medullary Sponge Kidney +How to prevent Medullary Sponge Kidney ?,"Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones.",NIDDK,Medullary Sponge Kidney +How to prevent Medullary Sponge Kidney ?,"Health care providers may prescribe certain medications to prevent UTIs and kidney stones: + +- A person with medullary sponge kidney may need to continue taking a low-dose antibiotic to prevent recurrent infections. - Medications that reduce calcium in the urine may help prevent calcium kidney stones. These medications may include - potassium citrate - thiazide",NIDDK,Medullary Sponge Kidney +What to do for Medullary Sponge Kidney ?,"The following changes in diet may help prevent UTIs and kidney stone formation: + +- Drinking plenty of water and other liquids can help flush bacteria from the urinary tract and dilute urine so kidney stones cannot form. A person should drink enough liquid to produce about 2 to 2.5 quarts of urine every day.3 - Reducing sodium intake, mostly from salt, may help prevent kidney stones. Diets high in sodium can increase the excretion of calcium into the urine and thus increase the chance of calciumcontaining kidney stones forming. - Foods rich in animal proteins such as meat, eggs, and fish can increase the chance of uric acid stones and calcium stones forming. People who form stones should limit their meat consumption to 6 to 8 ounces a day.4 - People who are more likely to develop calcium oxalate stones should include 1,000 milligrams of calcium in their diet every day. Adults older than 50 years should consume 1,200 milligrams of calcium daily.3 Calcium in the digestive tract binds to oxalate from food and keeps it from entering the blood and the urinary tract, where it can form stones. + +People with medullary sponge kidney should talk with their health care provider or a dietitian before making any dietary changes. A dietitian can help a person plan healthy meals.",NIDDK,Medullary Sponge Kidney +What to do for Medullary Sponge Kidney ?,"- Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) - Many people with medullary sponge kidney have no symptoms. The first sign that a person has medullary sponge kidney is usually a UTI or a kidney stone. UTIs and kidney stones share many of the same signs and symptoms: - burning or painful urination - pain in the back, lower abdomen, or groin - cloudy, dark, or bloody urine - foul-smelling urine - fever and chills - vomiting - Health care providers commonly choose one or more of three imaging techniques to diagnose medullary sponge kidney: - intravenous pyelogram - computerized tomography (CT) scan - ultrasound - Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on - curing an existing UTI - removing any kidney stones - Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones.",NIDDK,Medullary Sponge Kidney +What is (are) Lupus Nephritis ?,"Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). SLE is an autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs. Up to 60 percent of people with SLE are diagnosed with lupus nephritis, which can lead to significant illness and even death.1",NIDDK,Lupus Nephritis +What is (are) Lupus Nephritis ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.",NIDDK,Lupus Nephritis +What are the symptoms of Lupus Nephritis ?,"The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face. + +Kidney problems often develop at the same time or shortly after lupus symptoms appear and can include + +- joint pain or swelling - muscle pain - fever with no known cause - red rashes, often on the face, which are also called butterfly rashes because of their shape",NIDDK,Lupus Nephritis +How to diagnose Lupus Nephritis ?,"Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy: + +- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when blood or protein is present. A high number of red blood cells or high levels of protein in the urine indicate kidney damage. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show high levels of creatinine, a waste product of normal muscle breakdown excreted by the kidneys, which increases when the kidneys are not functioning well. - Biopsy. A biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. The kidney tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test can confirm a diagnosis of lupus nephritis, determine how far the disease has progressed, and guide treatment. The American College of Rheumatology recommends biopsies for all people with evidence of active lupus nephritis that has not been previously treated.",NIDDK,Lupus Nephritis +What are the treatments for Lupus Nephritis ?,"Lupus nephritis is treated with medications that suppress the immune system, so it stops attacking and damaging the kidneys. Standard treatment includes a corticosteroid, usually prednisone, to reduce inflammation in the kidneys. An immunosuppressive medication, such as cyclophosphamide or mycophenolate mofetil, is typically used with prednisone. These medicationswhen taken as prescribed by a health care providerfurther decrease the activity of the immune system and block the bodys immune cells from attacking the kidneys directly or making antibodies that attack the kidneys. Antibodies are proteins made by the immune system to protect the body from foreign substances such as bacteria or viruses. Hydroxychloroquine, a medication for treating SLE, should also be prescribed or continued for people with lupus nephritis. + +People with lupus nephritis that is causing high blood pressure may need to take medications that lower their blood pressure and can also significantly slow the progression of kidney disease. Two types of blood pressure lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretica medication that helps the kidneys remove fluid from the bodymay be prescribed. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed. + +Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.2",NIDDK,Lupus Nephritis +What are the complications of Lupus Nephritis ?,"In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant.3 Scientists cannot predict who will or will not respond to treatment. The most severe form of lupus nephritis is called diffuse proliferative nephritis. With this type of illness, the kidneys are inflamed, many white blood cells invade the kidneys, and kidney cells increase in number, which can cause such severe damage that scars form in the kidneys. Scars are difficult to treat, and kidney function often declines as more scars form. People with suspected lupus nephritis should get diagnosed and treated as early as possible to prevent such chronic, or long lasting, damage. + +People with lupus nephritis are at a high risk for cancer, primarily B-cell lymphomaa type of cancer that begins in the cells of the immune system. They are also at a high risk for heart and blood vessel problems.",NIDDK,Lupus Nephritis +What to do for Lupus Nephritis ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing lupus nephritis. People with kidney disease that progresses may need to talk with a health care provider about changes they may need to make to their diet. People with lupus nephritis and high blood pressure may benefit from reducing sodium intake, often from salt. More information about nutrition in people with kidney disease is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults.",NIDDK,Lupus Nephritis +What to do for Lupus Nephritis ?,"- Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). - The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edema. - Lupus nephritis is diagnosed through urine and blood tests and a kidney biopsy. - Lupus nephritis is treated with medications that suppress the immune system, so it stops attacking and damaging the kidneys. Standard treatment includes a corticosteroid, usually prednisone, to reduce inflammation in the kidneys. An immunosuppressive medication, such as cyclophosphamide or mycophenolate mofetil, is typically used with prednisone. - People with lupus nephritis that is causing high blood pressure may need to take medications that lower their blood pressure, which can also significantly slow the progression of kidney disease. - In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure.",NIDDK,Lupus Nephritis +What is (are) What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"Interstitial cystitis*painful bladder syndrome (IC/PBS) is one of several conditions that causes bladder pain and a need to urinate frequently and urgently. Some doctors have started using the term bladder pain syndrome (BPS) to describe this condition. + +Your bladder is a balloon-shaped organ where your body holds urine. When you have a bladder problem, you may notice certain signs or symptoms. + +*See Pronounciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +What are the symptoms of What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"Signs of bladder problems include + +- Urgency. The feeling that you need to go right now! Urgency is normal if you haven't been near a bathroom for a few hours or if you have been drinking a lot of fluids. But you may have a problem if you have strong urges before your bladder has had time to fill. All of a sudden, you feel a strong urge to go. At times, you may even have an accident because the urge strikes so quickly you don't have time to find a bathroom. - Frequency. The feeling that you need to go much more often than anyone else. Doctors and nurses use the term void, which means to empty the bladder. Most people void between four and seven times a day. Drinking large amounts of fluid can cause more frequent voiding. Taking blood pressure medicines called diuretics, or water pills, can also cause more frequent voiding. If you void more than eight times a day, and you dont take diuretics or drink large amounts of fluid, it may be the sign of a problem. - Pain. The feeling of more than discomfort when you need to go. Having a full bladder may be uncomfortable, but it should not be painful. You may have a problem if you feel burning or sharp pain in your bladder or urethrathe opening where urine leaves the body. + +Some people may have pain without urgency or frequency. Others have urgency and frequency without pain.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +What causes What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"Many different problems can cause urgency, frequency, and bladder pain. Just a few of them are + +- infections - bowel disorders - endometriosistissue that normally lines the womb that appears in other places outside of the womb - bladder cancer + +Your doctor will ask you questions and run tests to find the cause of your bladder problems. Usually, the doctor will find that you have either an infection or an overactive bladder. But urgency, frequency, and pain are not always caused by infection. + +Sometimes the cause is hard to find. If all the test results are normal and all other diseases are ruled out, your doctor may find that you have IC/PBS.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +Who is at risk for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome? ?,"Both men and women can get IC/PBS, though twice as many women are affected as men. It can occur at any age, but it is most common in middle age. + +People with IC/PBS rarely have bladder pain all the time. The pain usually comes and goes as the bladder fills and then empties. The pain may go away for weeks or months and then return. People with IC/PBS sometimes refer to an attack of bladder pain as a flare or flare-up. Stress may bring on a flare-up of symptoms in someone who has IC/PBS. But stress does not cause a person to get IC/PBS.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +How to diagnose What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"Finding the cause of bladder pain may require several tests. + +While tests may aid your doctor in making a diagnosis of IC/PBS, a careful review of your symptoms and a physical exam in the office are generally the most important parts of the evaluation.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +What are the treatments for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"No one treatment for IC/PBS has been found that works for everyone. Your doctor or nurse will work with you to find a treatment plan that meets your special needs. The plan may include diet and lifestyle changes, bladder retraining, activity and exercise, physical therapy, and various types of medicines. You should expect some treatment failures along the way, but, with time, you and your doctor or nurse should find a treatment that gives you some relief and helps you cope with your disease. + +Diet and Lifestyle Changes + +Some people with IC/PBS find that certain foods or drinks bring on their symptoms. Others find no link between symptoms and what they eat. + +Learning what foods cause symptoms for you may require some trial and error. Keep a food diary and note the times you have bladder pain. The diary might reveal that your flare-ups always happen, for example, after you eat tomatoes or oranges. + +Some doctors recommend taking an antacid medicine with meals. The medicine reduces the amount of acid that gets into the urine. + +If you make changes to your diet, remember to eat a variety of healthy foods. + +Bladder Retraining + +Bladder retraining is a way to help your bladder hold more urine. People with bladder pain often get in the habit of using the bathroom as soon as they feel pain or urgency. They then feel the need to go before the bladder is really full. The body may get used to frequent voiding. Bladder retraining helps your bladder hold more urine before signaling the urge to urinate. + +Keep a bladder diary to track how you are doing. Start by noting the times when you void. Note how much time goes by between voids. For example, you may find that you return to the bathroom every 40 minutes. + +Try to stretch out the time between voids. If you usually void every 40 minutes, try to wait at least 50 minutes before you go to the bathroom. + +If your bladder becomes painful, you may use the bathroom. But you may find that your first urge to use the bathroom goes away if you ignore it. Find ways to relax or distract yourself when the first urge strikes. + +After a few days, you may be able to stretch the time out to 60 or 70 minutes, and you may find that the urge to urinate does not return as soon. + +Activity + +If you have IC/PBS, you may feel the last thing you want to do is exercise. But many people feel that easy activities like walking or gentle stretching exercises help relieve symptoms. + +Physical Therapy + +Your doctor or nurse may suggest pelvic exercises. The pelvic muscles hold the bladder in place and help control urination. The first step is to find the right muscle to squeeze. A doctor, nurse, or physical therapist can help you. One way to find the muscles is to imagine that you are trying to stop passing gas. Squeeze the muscles you would use. If you sense a ""pulling"" feeling, you have found the right muscles for pelvic exercises. + +You may need exercises to strengthen those muscles so that it's easier to hold in urine. Or you may need to learn to relax your pelvic muscles if tense muscles are part of your bladder pain. + +Some physical therapists specialize in helping people with pelvic pain. Ask your doctor or nurse to help you find a professional trained in pelvic floor physical therapy. + +Reducing Stress + +Stress doesn't cause IC/PBS. But stress can trigger painful flare-ups in someone who has IC/PBS. Learning to reduce stress in your life by making time for relaxation every day may help control some symptoms of IC/PBS. + +Oral Medicines + +Pain pills like aspirin, ibuprofen, or acetominophen can help control mild bladder pain. Advil and Motrin are examples of ibuprofen. Tylenol is an example of acetominophen. Talk with your doctor if you feel you need a stronger pain medicine. + +Your doctor may recommend a medication, pentosan polysulfate sodium, sold as Elmiron, which is approved for treating the pain of IC/PBS. You may need to take this medicine for up to 6 months before you notice improvement. Elmiron does not work for everyone, but some people with IC/PBS have found relief taking it. You need a doctor's order for Elmiron. If you don't notice improvement of your symptoms in 6 months, this medicine is not likely to work. + +Researchers are also looking at other kinds of medicines. Medicines that treat heartburn might help bladder symptoms by reducing the amount of acid made in the body. Muscle relaxants can keep the bladder from squeezing at the wrong time. Keeping the bladder muscle relaxed helps ease the symptoms of IC/PBS. + +Bladder Stretching + +The doctor may stretch the bladder by filling it with liquid. You will be given an anesthetic to prevent pain and help relax your bladder muscles. Some patients have said their symptoms were helped after this treatment. + +Bladder Medicines + +Many patients who have IC/PBS find relief after a treatment in which their bladders are filled with a liquid medicine. The doctor guides a tube into your bladder and slowly fills the bladder with a liquid that eases irritation of the bladder wall. The liquid may be a compound called DMSO or a solution that contains heparin and a pain medicine called lidocaine. + +You will keep the liquid in your bladder for about 15 minutes and then release it. You can have this treatment once every week or every other week for 1 or 2 months. You may not feel any better until the third or fourth treatment. + +Nerve Stimulation + +If you have tried diet changes, exercise, and medicines and nothing seems to help, you may wish to think about nerve stimulation. This treatment sends mild electrical pulses to the nerves that control the bladder. + +At first, you may try a system that sends the pulses through electrodes placed on your skin. If this therapy works for you, you may consider having a device put in your body. The device delivers small pulses of electricity to the nerves around the bladder. + +For some patients, nerve stimulation relieves bladder pain as well as urinary frequency and urgency. For others, the treatment relieves frequency and urgency but not pain. For still other patients, it does not work. + +Scientists are not sure why nerve stimulation works. Some believe that the electrical pulses block the pain signals carried in the nerves. If your brain doesn't receive the nerve signal, you don't feel the pain. Others believe that the electricity releases endorphins, which are hormones that block pain naturally. + +Surgery + +As a last resort, your doctor might suggest surgery to remove part or all of the bladder. Surgery does not cure the pain of IC/PBS in all cases, but if you have tried every other option and your pain is still unbearable, surgery might be considered. + +Talk with your doctor and family about the possible benefits and side effects.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +What to do for What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?,"- Bladder problems have many possible causes. - Your doctor will need to do tests to find the cause of your bladder problems. If all the test results are normal, you may have IC/PBS. - No one treatment option for IC/PBS works for everybody. - Treatments for IC/PBS may include changing your diet and exercising. - Medicines for IC/PBS may be taken by mouth or put directly into the bladder through a tube by a doctor. - Nerve stimulation helps some people with IC/PBS. - Surgery is a last resort for treating IC/PBS.",NIDDK,What I need to know about Interstitial Cystitis/Painful Bladder Syndrome +What is (are) What I need to know about Gestational Diabetes ?,"Gestational* diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. Your body uses glucose for energy. Too much glucose in your blood is not good for you or your baby. + +Gestational diabetes is usually diagnosed during late pregnancy. If you are diagnosed with diabetes earlier in your pregnancy, you may have had diabetes before you became pregnant. + +Treating gestational diabetes can help both you and your baby stay healthy. You can protect your baby and yourself by taking action right away to control your blood glucose levels. + +If you have gestational diabetes, a health care team will likely be part of your care. In addition to your obstetrician-gynecologist, or OB/GYNthe doctor who will deliver your babyyour team might include a doctor who treats diabetes, a diabetes educator, and a dietitian to help you plan meals. + +For Women with Type 1 or Type 2 Diabetes If you already have type 1 or type 2 diabetes and are thinking about having a baby, talk with your doctor before you get pregnant. Untreated or poorly controlled diabetes can cause serious problems for your baby. More information is provided in the NIDDK health topic, What I need to know about Preparing for Pregnancy if I Have Diabetes or call 18008608747 and request a copy. + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Gestational Diabetes +What causes What I need to know about Gestational Diabetes ?,"Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels. + +During pregnancy, your body makes more hormones and goes through other changes, such as weight gain. These changes cause your body's cells to use insulin less effectively, a condition called insulin resistance. Insulin resistance increases your body's need for insulin. If your pancreas can't make enough insulin, you will have gestational diabetes. + +All pregnant women have some insulin resistance during late pregnancy. However, some women have insulin resistance even before they get pregnant, usually because they are overweight. These women start pregnancy with an increased need for insulin and are more likely to have gestational diabetes. + + + +What are my chances of getting gestational diabetes? Your chances of getting gestational diabetes are higher if you - are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS",NIDDK,What I need to know about Gestational Diabetes +What is (are) What I need to know about Gestational Diabetes ?,"Your chances of getting gestational diabetes are higher if you + +- are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS",NIDDK,What I need to know about Gestational Diabetes +How to diagnose What I need to know about Gestational Diabetes ?,"Doctors use blood tests to diagnose gestational diabetes. All diabetes blood tests involve drawing blood at a doctor's office or a commercial facility. Blood samples are sent to a lab for analysis. + + + +Screening Glucose Challenge Test + +For this test, you will drink a sugary beverage and have your blood glucose level checked an hour later. This test can be done at any time of the day. If the results are above normal, you may need to have an oral glucose tolerance test. + +Oral Glucose Tolerance Test + +You will need to fast for at least 8 hours before the test. Fasting means having nothing to eat or drink except water. Your doctor will give you other instructions to follow before the test. + +Your fasting blood glucose level will be checked before the test begins. Then you will drink a sugary beverage. Your blood glucose levels will be checked 1 hour, 2 hours, and possibly 3 hours later. Your doctor will use your test results to find out whether you have gestational diabetes.",NIDDK,What I need to know about Gestational Diabetes +How to diagnose What I need to know about Gestational Diabetes ?,"If you have gestational diabetes, your doctor may recommend that you have some extra tests to check your baby's health, such as + +- ultrasound exams, which use sound waves to make images that show your baby's growth and whether your baby is larger than normal - a nonstress test, which uses a monitor placed on your abdomen to check whether your baby's heart rate increases as it should when your baby is active - kick counts to check the time between your baby's movements",NIDDK,What I need to know about Gestational Diabetes +What are the treatments for What I need to know about Gestational Diabetes ?,"Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. Targets are numbers you aim for. Your doctor will help you set your targets. You will learn how to control your blood glucose using + +- healthy eating - physical activity - insulin shots, if needed",NIDDK,What I need to know about Gestational Diabetes +What to do for What I need to know about Gestational Diabetes ?,"Your health care team will help you make a healthy eating plan with food choices that are good for both you and your baby. These choices are good for you to follow throughout pregnancy and after, as you raise your family. + +Using a healthy eating plan will help your blood glucose stay in your target range. The plan will help you know which foods to eat, how much to eat, and when to eat. Food choices, amounts, and timing are all important in keeping your blood glucose levels in your target range. + +More information is provided in the NIDDK health topic, What I need to know about Eating and Diabetes. + + + +Physical Activity + +Physical activity can help you reach your blood glucose targets. Talk with your doctor about the type of activity that is best for you. If you are already active, tell your doctor what you do. Being physically active will also help lower your chances of having type 2 diabetesand its problemsin the future. Now is the time to develop good habits for you and your baby. + +For more information about physical activity and pregnancy, visit www.womenshealth.gov/pregnancy. + +Insulin Shots + +If you have trouble meeting your blood glucose targets, you may need to take a medicine called insulin, along with following a healthy meal plan and being physically active. Your health care team will show you how to give yourself insulin shots. Insulin will not harm your baby.",NIDDK,What I need to know about Gestational Diabetes +How to diagnose What I need to know about Gestational Diabetes ?,"Your health care team may teach you how to test for chemicals called ketones in your morning urine or in your blood. High levels of ketones are a sign that your body is using your body fat for energy instead of the food you eat. Using fat for energy is not recommended during pregnancy. Ketones may be harmful for your baby. + +If your ketone levels are high, your doctor may suggest that you change the type or amount of food you eat. Or you may need to change your meal or snack times.",NIDDK,What I need to know about Gestational Diabetes +How to prevent What I need to know about Gestational Diabetes ?,"You can do a lot to prevent or delay type 2 diabetes by making these lifestyle changes: + +- Reach and stay at a healthy weight. Try to reach your prepregnancy weight 6 to 12 months after your baby is born. Then, if you still weigh too much, work to lose at least 5 to 7 percent of your body weight and keep it off. For example, if you weigh 200 pounds, losing 10 to 14 pounds can greatly reduce your chance of getting diabetes. - Be physically active for at least 30 minutes most days of the week. - Follow a healthy eating plan. Eat more grains, fruits, and vegetables. Cut down on fat and calories. Your health care team can help you design a meal plan. - Ask your doctor if you should take the diabetes medicine metformin. Metformin can lower your chances of having type 2 diabetes, especially if you are younger and heavier and have prediabetes or if you have had gestational diabetes. + +These changes can help you enjoy a longer, healthier life. Your health care team can give you information and support to help you make these changes. + +By delaying or preventing type 2 diabetes, you will also lower your chances of having heart and blood vessel disease and other problems as you get older. + +Talk with your doctor if you are thinking about having another baby. For the safety of your baby, your blood glucose needs to be at healthy levels before you get pregnant again. Your doctor can help ensure you are ready for your next child.",NIDDK,What I need to know about Gestational Diabetes +What to do for What I need to know about Gestational Diabetes ?,"- Gestational diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. - Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels. - You will probably be tested for gestational diabetes between weeks 24 and 28 of your pregnancy. If you have a higher chance of getting gestational diabetes, your doctor may test you for diabetes during your first visit after you become pregnant. - If you have high blood glucose levels because your gestational diabetes is not under control, your baby will also have high blood glucose. - Untreated or uncontrolled gestational diabetes can cause problems for your baby. - Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. - Even if your blood glucose levels return to normal after your pregnancy, your chances of getting diabetesusually type 2 diabeteslater in life are high. Therefore, you should be tested at least every 3 years for diabetes or prediabetes. - You can give your baby a healthy start by breastfeeding. - You can help your child be healthy by showing your child how to make healthy lifestyle choices, including being physically active, limiting screen time in front of the TV or video games, eating a healthy diet, and staying at a healthy weight.",NIDDK,What I need to know about Gestational Diabetes +What are the symptoms of Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?,"Dermatitis herpetiformis is characterized by small, clustered papules and vesicles that erupt symmetrically on the elbows, knees, buttocks, back, or scalp. The face and groin can also be involved. A burning sensation may precede lesion formation. Lesions are usually scratched off by the time a patient comes in for a physical exam, and the rash may appear as erosions and excoriations. + +Patients with DH may also experience dental enamel defects to permanent teeth, which is another manifestation of celiac disease. Less than 20 percent of people with DH have symptoms of celiac disease.3",NIDDK,Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) +What causes Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?,"Dermatitis herpetiformis is caused by the deposit of immunoglobulin A (IgA) in the skin, which triggers further immunologic reactions resulting in lesion formation. DH is an external manifestation of an abnormal immune response to gluten, in which IgA antibodies form against the skin antigen epidermal transglutaminase. + +Family studies show that 5 percent of first-degree relatives of a person with DH will also have DH. An additional 5 percent of first-degree relatives of a person with DH will have celiac disease.4 Various other autoimmune diseases are associated with DH, the most common being hypothyroidism.",NIDDK,Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) +How to diagnose Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?,"A skin biopsy is the first step in diagnosing DH. Direct immunofluorescence of clinically normal skin adjacent to a lesion shows granular IgA deposits in the upper dermis. Histology of lesional skin may show microabscesses containing neutrophils and eosinophils. However, histology may reveal only excoriation due to the intense itching that patients experience. + +Blood tests for antiendomysial or anti-tissue transglutaminase antibodies may also suggest celiac disease. Blood tests for epidermal transglutaminase antibodies are positive in more than 90 percent of cases.5 All of these tests will become negative with prolonged adherence to a gluten-free diet. + +A positive biopsy and serology confirm DH and should be taken as indirect evidence of small bowel damage. A biopsy of the small bowel is usually not needed for DH diagnosis. However, if clinical signs of gastrointestinal disease are evident on examination, further workup may be required.2 Whether or not intestinal damage is evident, a gluten-free diet should be implemented because the rash of DH is gluten sensitive.4",NIDDK,Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) +What are the treatments for Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?,"The sulfone dapsone can provide immediate relief of symptoms. For patients who cannot tolerate dapsone, sulfapyridine or sulfamethoxypyridazine may be used, although these medications are less effective than dapsone. A strict gluten-free diet is the only treatment for the underlying disease. Even with a gluten-free diet, medication therapy may need to be continued from a few months to 2 years. + +DH can go into remission, which is defined as absence of skin lesions and symptoms of DH for more than 2 years while not taking sulfones or other treatments and not adhering to a gluten-free diet. Cohort studies showing DH remission provide support for reducing sulfone therapy and weaning from a gluten-free diet in patients with well-controlled DH.6",NIDDK,Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) +What is (are) Causes of Diabetes ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. + +Insulin is made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. + +If beta cells dont produce enough insulin, or the body doesnt respond to the insulin that is present, glucose builds up in the blood instead of being absorbed by cells in the body, leading to prediabetes or diabetes. Prediabetes is a condition in which blood glucose levels or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough to be diagnosed as diabetes. In diabetes, the bodys cells are starved of energy despite high blood glucose levels. + +Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems. No one is certain what starts the processes that cause diabetes, but scientists believe genes and environmental factors interact to cause diabetes in most cases. + +The two main types of diabetes are type 1 diabetes and type 2 diabetes. A third type, gestational diabetes, develops only during pregnancy. Other types of diabetes are caused by defects in specific genes, diseases of the pancreas, certain drugs or chemicals, infections, and other conditions. Some people show signs of both type 1 and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. + +Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. + +Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. + +Genetic Susceptibility + +Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. + +Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. + +While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. + +Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. + +Autoimmune Destruction of Beta Cells + +In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. + +Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. + +Environmental Factors + +Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. + +Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. + +Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. + +Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years. + +Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes. + +Genetic Susceptibility + +Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites. + +Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes. + +Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk. + +Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes. + +Obesity and Physical Inactivity + +Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present. + +An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels. + +The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2 + +Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in Diabetes Prevention Program. + +Insulin Resistance + +Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes. + +Abnormal Glucose Production by the Liver + +In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver. + +The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation + +A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels: + +- Insulin, made by beta cells, lowers elevated blood glucose levels. - Glucagon, made by alpha cells, raises low blood glucose levels. + +- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. + +- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels. - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids. + +Metabolic Syndrome + +Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including + +- higher than normal blood glucose levels - increased waist size due to excess abdominal fat - high blood pressure - abnormal levels of cholesterol and triglycerides in the blood + +Cell Signaling and Regulation + +Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy. + +Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance. + +This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments. + +Beta Cell Dysfunction + +Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity. + +Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life. + +Risk Factors for Type 2 Diabetes + +People who develop type 2 diabetes are more likely to have the following characteristics: + +- age 45 or older - overweight or obese - physically inactive - parent or sibling with diabetes - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American - history of giving birth to a baby weighing more than 9 pounds - history of gestational diabetes - high blood pressure140/90 or aboveor being treated for high blood pressure - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL - polycystic ovary syndrome, also called PCOS - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits - history of CVD + +The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Insulin Resistance and Beta Cell Dysfunction + +Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs. + +As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. + +Family History + +Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes. + +Future Risk of Type 2 Diabetes + +Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter. + +Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What causes Causes of Diabetes ?,"Other types of diabetes have a variety of possible causes. + +Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action + +Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. + +The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. + +Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors. + +Other Genetic Diseases + +Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes. + +The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs. + +Damage to or Removal of the Pancreas + +Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells. + +Endocrine Diseases + +Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels. + +Autoimmune Disorders + +Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes. + +Medications and Chemical Toxins + +Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis. + +Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes. + +Lipodystrophy + +Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes.",NIDDK,Causes of Diabetes +What to do for Causes of Diabetes ?,"- Diabetes is a complex group of diseases with a variety of causes. Scientists believe genes and environmental factors interact to cause diabetes in most cases. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. - Insulin is a hormone made by beta cells in the pancreas. Insulin helps cells throughout the body absorb and use glucose for energy. If the body does not produce enough insulin or cannot use insulin effectively, glucose builds up in the blood instead of being absorbed by cells in the body, and the body is starved of energy. - Prediabetes is a condition in which blood glucose levels or A1C levels are higher than normal but not high enough to be diagnosed as diabetes. People with prediabetes can substantially reduce their risk of developing diabetes by losing weight and increasing physical activity. - The two main types of diabetes are type 1 diabetes and type 2 diabetes. Gestational diabetes is a third form of diabetes that develops only during pregnancy. - Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. - Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. - Scientists believe gestational diabetes is caused by the hormonal changes and metabolic demands of pregnancy together with genetic and environmental factors. Risk factors for gestational diabetes include being overweight and having a family history of diabetes. - Monogenic forms of diabetes are relatively uncommon and are caused by mutations in single genes that limit insulin production, quality, or action in the body. - Other types of diabetes are caused by diseases and injuries that damage the pancreas; certain chemical toxins and medications; infections; and other conditions.",NIDDK,Causes of Diabetes +What is (are) Your Guide to Diabetes: Type 1 and Type 2 ?,"Diabetes is when your blood glucose, also called blood sugar, is too high. Blood glucose is the main type of sugar found in your blood and your main source of energy. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries glucose to all of your bodys cells to use for energy. + +Your pancreasan organ, located between your stomach and spine, that helps with digestionreleases a hormone it makes, called insulin, into your blood. Insulin helps your blood carry glucose to all your bodys cells. Sometimes your body doesnt make enough insulin or the insulin doesnt work the way it should. Glucose then stays in your blood and doesnt reach your cells. Your blood glucose levels get too high and can cause diabetes or prediabetes. + +Over time, having too much glucose in your blood can cause health problems. + +*See the Pronunciation Guide for tips on how to say the the words in bold type.",NIDDK,Your Guide to Diabetes: Type 1 and Type 2 +What is (are) Your Guide to Diabetes: Type 1 and Type 2 ?,"Prediabetes is when the amount of glucose in your blood is above normal yet not high enough to be called diabetes. With prediabetes, your chances of getting type 2 diabetes, heart disease, and stroke are higher. With some weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. You can even return to normal glucose levels, possibly without taking any medicines.",NIDDK,Your Guide to Diabetes: Type 1 and Type 2 +What are the symptoms of Your Guide to Diabetes: Type 1 and Type 2 ?,"The signs and symptoms of diabetes are + +- being very thirsty - urinating often - feeling very hungry - feeling very tired - losing weight without trying - sores that heal slowly - dry, itchy skin - feelings of pins and needles in your feet - losing feeling in your feet - blurry eyesight + +Some people with diabetes dont have any of these signs or symptoms. The only way to know if you have diabetes is to have your doctor do a blood test.",NIDDK,Your Guide to Diabetes: Type 1 and Type 2 +What is (are) Urinary Tract Infection In Adults ?,"A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. However, sometimes bacteria overcome the bodys natural defenses and cause infection. An infection in the urethra is called urethritis. A bladder infection is called cystitis. Bacteria may travel up the ureters to multiply and infect the kidneys. A kidney infection is called pyelonephritis.",NIDDK,Urinary Tract Infection In Adults +What is (are) Urinary Tract Infection In Adults ?,"The urinary tract is the body's drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine a person produces each day. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder and emptied through the urethra, a tube at the bottom of the bladder. + +When the bladder empties, a muscle called the sphincter relaxes and urine flows out of the body through the urethra. The opening of the urethra is at the end of the penis in males and in front of the vagina in females.",NIDDK,Urinary Tract Infection In Adults +What causes Urinary Tract Infection In Adults ?,"Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. Microbes called Chlamydia and Mycoplasma can infect the urethra and reproductive system but not the bladder. Chlamydia and Mycoplasma infections may be sexually transmitted and require treatment of sexual partners. + +The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up toward the kidneys, and urination washes microbes out of the body. In men, the prostate gland produces secretions that slow bacterial growth. In both sexes, immune defenses also prevent infection. But despite these safeguards, infections still occur. Certain bacteria have a strong ability to attach themselves to the lining of the urinary tract.",NIDDK,Urinary Tract Infection In Adults +How many people are affected by Urinary Tract Infection In Adults ?,"Urinary tract infections are the second most common type of infection in the body, accounting for about 8.1 million visits to health care providers each year.1 Women are especially prone to UTIs for anatomical reasons. One factor is that a womans urethra is shorter, allowing bacteria quicker access to the bladder. Also, a womans urethral opening is near sources of bacteria from the anus and vagina. For women, the lifetime risk of having a UTI is greater than 50 percent.2 UTIs in men are not as common as in women but can be serious when they occur.",NIDDK,Urinary Tract Infection In Adults +Who is at risk for Urinary Tract Infection In Adults? ?,"Although everyone has some risk, some people are more prone to getting UTIs than others. People with spinal cord injuries or other nerve damage around the bladder have difficulty emptying their bladder completely, allowing bacteria to grow in the urine that stays in the bladder. Anyone with an abnormality of the urinary tract that obstructs the flow of urinea kidney stone or enlarged prostate, for exampleis at risk for a UTI. People with diabetes or problems with the bodys natural defense system are more likely to get UTIs. + +Sexual activity can move microbes from the bowel or vaginal cavity to the urethral opening. If these microbes have special characteristics that allow them to live in the urinary tract, it is harder for the body to remove them quickly enough to prevent infection. Following sexual intercourse, most women have a significant number of bacteria in their urine, but the body normally clears them within 24 hours. However, some forms of birth control increase the risk of UTI. In some women, certain spermicides may irritate the skin, increasing the risk of bacteria invading surrounding tissues. Using a diaphragm may slow urinary flow and allow bacteria to multiply. Condom use is also associated with increased risk of UTIs, possibly because of the increased trauma that occurs to the vagina during sexual activity. Using spermicides with diaphragms and condoms can increase risk even further. + +Another common source of infection is catheters, or tubes, placed in the urethra and bladder. Catheters interfere with the bodys ability to clear microbes from the urinary tract. Bacteria travel through or around the catheter and establish a place where they can thrive within the bladder. A person who cannot urinate in the normal way or who is unconscious or critically ill often needs a catheter for more than a few days. The Infectious Diseases Society of America recommends using catheters for the shortest time possible to reduce the risk of a UTI.3 + +Recurrent Infections + +Many women suffer from frequent UTIs. About 20 percent of young women with a first UTI will have a recurrent infection.4 With each UTI, the risk that a woman will continue having recurrent UTIs increases.5 Some women have three or more UTIs a year. However, very few women will have frequent infections throughout their lives. More typically, a woman will have a period of 1 or 2 years with frequent infections, after which recurring infections cease. + +Men are less likely than women to have a first UTI. But once a man has a UTI, he is likely to have another because bacteria can hide deep inside prostate tissue. Anyone who has diabetes or a problem that makes it hard to urinate may have repeat infections. + +Research funded by the National Institutes of Health (NIH) suggests that one factor behind recurrent UTIs may be the ability of bacteria to attach to cells lining the urinary tract. One NIH-funded study found that bacteria formed a protective film on the inner lining of the bladder in mice.6 If a similar process can be demonstrated in humans, the discovery may lead to new treatments to prevent recurrent UTIs. Another line of research has indicated that women who are nonsecretors of certain blood group antigens may be more prone to recurrent UTIs because the cells lining the vagina and urethra may allow bacteria to attach more easily. A nonsecretor is a person with an A, B, or AB blood type who does not secrete the normal antigens for that blood type in bodily fluids, such as fluids that line the bladder wall.7 + +Infections during Pregnancy + +Pregnant women seem no more prone to UTIs than other women. However, when a UTI does occur in a pregnant woman, it is more likely to travel to the kidneys. According to some reports, about 4 to 5 percent of pregnant women develop a UTI.8 Scientists think that hormonal changes and shifts in the position of the urinary tract during pregnancy make it easier for bacteria to travel up the ureters to the kidneys and cause infection. For this reason, health care providers routinely screen pregnant women for bacteria in the urine during the first 3 months of pregnancy.",NIDDK,Urinary Tract Infection In Adults +What are the symptoms of Urinary Tract Infection In Adults ?,"Symptoms of a UTI vary by age, gender, and whether a catheter is present. Among young women, UTI symptoms typically include a frequent and intense urge to urinate and a painful, burning feeling in the bladder or urethra during urination. The amount of urine may be very small. Older women and men are more likely to be tired, shaky, and weak and have muscle aches and abdominal pain. Urine may look cloudy, dark, or bloody or have a foul smell. In a person with a catheter, the only symptom may be fever that cannot be attributed to any other cause. Normally, UTIs do not cause fever if they are in the bladder. A fever may mean the infection has reached the kidneys or has penetrated the prostate. Other symptoms of a kidney infection include pain in the back or side below the ribs, nausea, and vomiting.",NIDDK,Urinary Tract Infection In Adults +How to diagnose Urinary Tract Infection In Adults ?,"To find out whether a person has a UTI, the health care provider will ask about urinary symptoms and then test a sample of urine for the presence of bacteria and white blood cells, which are produced by the body to fight infection. Because bacteria can be found in the urine of healthy individuals, a UTI is diagnosed based both on symptoms and a laboratory test. The person will be asked to give a clean catch urine sample by washing the genital area and collecting a midstream sample of urine in a sterile container. This method of collecting urine helps prevent bacteria around the genital area from getting into the sample and confusing the test results. Usually, the sample is sent to a laboratory, although some health care providers offices are equipped to do the testing. For people with recurring infections and patients in the hospital, the urine may be cultured. The culture is performed by placing part of the urine sample in a tube or dish with a substance that encourages any bacteria present to grow. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. The health care provider may also order a sensitivity test, which tests the bacteria for sensitivity to different antibiotics to see which medication is best for treating the infection. + +If a person has recurrent UTIs, the health care provider may order some additional tests to determine if the persons urinary tract is normal. + +Kidney and bladder ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show abnormalities in the kidneys and bladder. However, this test cannot reveal all important urinary abnormalities or measure how well the kidneys work. + +Voiding cystourethrogram. This test is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. As the person lies on the x-ray table, a health care provider inserts the tip of a thin, flexible tube called a catheter through the urethra into the bladder. The bladder and urethra are filled with a special dye called contrast medium, to make the structures clearly visible on the x-ray images. The x rays are taken from various angles while the bladder is full of contrast medium. The catheter is then removed and x-ray images are taken during urination. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician. The technician is supervised by a radiologist while the images are taken. The radiologist then interprets the images. Anesthesia is not needed, but light sedation may be used for some people. This test can show abnormalities of the inside of the urethra and bladder. The test can also determine whether the flow of urine is normal when the bladder empties. + +Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can provide clearer, more detailed images to help the health care provider understand the problem. + +Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include an injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. Like CT scans, MRIs can provide clearer, more detailed images. + +Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radionuclide scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Radioactive chemicals injected into the blood can provide information about kidney function. Radioactive chemicals can also be put into the fluids used to fill the bladder and urethra for x ray, MRI, and CT imaging. + +Urodynamics. Urodynamic testing is any procedure that looks at how well the bladder, sphincters, and urethra are storing and releasing urine. Most of these tests are performed in the office of a urologista doctor who specializes in urinary problemsby a urologist, physician assistant, or nurse practitioner. Some procedures may require light sedation to keep a person calm. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely. Urodynamic tests can also show whether the bladder is having abnormal contractions that cause leakage. A health care provider may order these tests if there is evidence that the person has some kind of nerve damage. + +Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument to look inside the urethra and bladder. Cystoscopy is performed by a doctor in a health care providers office, outpatient facility, or hospital with local anesthesia. However, in some cases, sedation and regional or general anesthesia are needed. Cystoscopy may be used to look for swelling, redness, and other signs of infection.",NIDDK,Urinary Tract Infection In Adults +What are the treatments for Urinary Tract Infection In Adults ?,"Most UTIs are caused by bacteria, which are treated with bacteria-fighting medications called antibiotics or antimicrobials. The choice of medication and length of treatment depend on the patients history and the type of bacteria causing the infection. Some antibiotics may be ruled out if a person has allergies to them. The sensitivity test takes 48 hours to complete and is especially useful in helping the health care provider select the antibiotic most likely to be effective in treating an infection. Longer treatment may be needed if the first antibiotic given is not effective. + +When a UTI occurs in a healthy person with a normal, unobstructed urinary tract, the term uncomplicated is used to describe the infection. Most young women who have UTIs have uncomplicated UTIs, which can be cured with 2 or 3 days of treatment. Single-dose treatment is less effective. Longer treatment causes more side effects and is not more effective. A follow-up urinalysis helps to confirm the urinary tract is infection-free. Taking the full course of treatment is important because symptoms may disappear before the infection is fully cleared. + +Complicated UTIs occur when a personfor example, a pregnant woman or a transplant patientis weakened by another condition. A UTI is also complicated when the person has a structural or functional abnormality of the urinary tract, such as an obstructive kidney stone or prostate enlargement that squeezes the urethra. Health care providers should assume that men and boys have a complicated UTI until proven otherwise. + +Severely ill patients with kidney infections may be hospitalized until they can take fluids and needed medications on their own. Kidney infections may require several weeks of antibiotic treatment. Kidney infections in adults rarely lead to kidney damage or kidney failure unless they go untreated or are associated with urinary tract obstruction. + +Bladder infections are generally self-limiting, but antibiotic treatment significantly shortens the duration of symptoms. People usually feel better within a day or two of treatment. Symptoms of kidney and prostate infections last longer. Drinking lots of fluids and urinating frequently will speed healing. If needed, various medications are available to relieve the pain of a UTI. A heating pad on the back or abdomen may also help. + +Recurrent Infections in Women + +Health care providers may advise women who have recurrent UTIs to try one of the following treatment options: + +- Take low doses of the prescribed antibiotic daily for 6 months or longer. If taken at bedtime, the medication remains in the bladder longer and may be more effective. NIH-supported research has shown this therapy to be effective without causing serious side effects. - Take a single dose of an antibiotic after sexual intercourse. - Take a short course2 or 3 daysof an antibiotic when symptoms appear. + +To try to prevent an infection, health care providers may suggest women + +- drink plenty of water every day - urinate when the need arises and avoid resisting the urge to urinate - urinate after sexual intercourse - switch to a different method of birth control if recurring UTIs are a problem + +Infections during Pregnancy + +During pregnancy, bacterial infection of the urineeven in the absence of symptomscan pose risks to both the mother and the baby. Some antibiotics are not safe to take during pregnancy. In selecting the best treatments, health care providers consider various factors such as the medications effectiveness, the stage of pregnancy, the mothers health, and potential effects on the fetus. + +Complicated Infections + +Curing infections that stem from a urinary obstruction or other systemic disorder depends on finding and correcting the underlying problem, sometimes with surgery. If the root cause goes untreated, this group of patients is at risk for kidney damage. Also, such infections tend to arise from a wider range of bacteria and sometimes from more than one type of bacteria at a time. + +Infections in Men + +Urinary tract infections in men are often the result of an obstructionfor example, a urinary stone or enlarged prostateor are from a catheter used during a medical procedure. The first step in treating such an infection is to identify the infecting organism and the medications to which it is sensitive. + +Prostate infectionschronic bacterial prostatitisare harder to cure because antibiotics may be unable to penetrate infected prostate tissue effectively. For this reason, men with bacterial prostatitis often need long-term treatment with a carefully selected antibiotic. UTIs in men are frequently associated with acute bacterial prostatitis, which can be life threatening if not treated urgently.",NIDDK,Urinary Tract Infection In Adults +How to prevent Urinary Tract Infection In Adults ?,"Changing some daily habits may help a person prevent recurrent UTIs. + +Eating, Diet, and Nutrition + +Drinking lots of fluid can help flush bacteria from the system. Water is best. Most people should try for six to eight, 8-ounce glasses a day. Talk with your health care provider if you cant drink the recommended amount due to other health problems, such as urinary incontinence, urinary frequency, or kidney failure. + +Urination Habits + +A person should urinate often and when the urge arises. Bacteria can grow when urine stays in the bladder too long. Women and men should urinate shortly after sex to flush away bacteria that might have entered the urethra during sex. Drinking a glass of water will also help flush bacteria away. + +After using the toilet, women should wipe from front to back. This step is most important after a bowel movement to keep bacteria from getting into the urethra. + +Clothing + +Cotton underwear and loose-fitting clothes should be worn, so air can keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. + +Birth Control + +For women, using a diaphragm or spermicide for birth control can lead to UTIs by increasing bacteria growth. A woman who has trouble with UTIs should try switching to a new form of birth control. Unlubricated condoms or spermicidal condoms increase irritation, which may help bacteria grow. Switching to lubricated condoms without spermicide or using a nonspermicidal lubricant may help prevent UTIs.",NIDDK,Urinary Tract Infection In Adults +What to do for Urinary Tract Infection In Adults ?,"- Most urinary tract infections (UTIs) arise from one type of bacteria, Escherichia coli (E. coli), which normally lives in the bowel. - Symptoms of a UTI in adults may include the following: - a frequent and intense urge to urinate - a painful, burning feeling in the bladder or urethra during urination - feeling tired, shaky, and weak - muscle aches - abdominal pain - only small amounts of urine passed, despite a strong urge to urinate - cloudy, dark, or bloody urine or urine that has a foul smell - pain in the back or side below the ribs - nausea and vomiting - Fever may indicate a kidney or prostate infection. - Because bacteria can be found in the urine of healthy individuals, a UTI is diagnosed based both on symptoms and a laboratory test. - UTIs are treated with bacteria-fighting medications called antibiotics or antimicrobials.",NIDDK,Urinary Tract Infection In Adults +What is (are) Pregnancy and Thyroid Disease ?,"Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. Too little thyroid hormone is called hypothyroidism and can cause many of the bodys functions to slow down. + +Thyroid hormone plays a critical role during pregnancy both in the development of a healthy baby and in maintaining the health of the mother. + +Women with thyroid problems can have a healthy pregnancy and protect their fetuses health by learning about pregnancys effect on the thyroid, keeping current on their thyroid function testing, and taking the required medications.",NIDDK,Pregnancy and Thyroid Disease +What is (are) Pregnancy and Thyroid Disease ?,"The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and release hormones into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. + +The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. + +Thyroid hormone production is regulated by thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by decreasing TSH production.",NIDDK,Pregnancy and Thyroid Disease +What to do for Pregnancy and Thyroid Disease ?,"During pregnancy, the body requires higher amounts of some nutrients to support the health of the mother and growing baby. Experts recommend pregnant women maintain a balanced diet and take a prenatal multivitamin and mineral supplement containing iodine to receive most nutrients necessary for thyroid health. More information about diet and nutrition during pregnancy is provided by the National Agricultural Library available at www.choosemyplate.gov/nutritional-needs-during-pregnancy. + +Dietary Supplements + +Because the thyroid uses iodine to make thyroid hormone, iodine is an important mineral for a mother during pregnancy. During pregnancy, the baby gets iodine from the mothers diet. Women need more iodine when they are pregnantabout 250 micrograms a day. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Choosing iodized saltsalt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met. + +However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hyperthyroidism and hypothyroidism. More information about iodine is provided by the National Library of Medicine in the fact sheet, Iodine in diet. + +To help ensure coordinated and safe care, people should discuss their use of dietary supplements with their health care provider. Tips for talking with health care providers are available at the National Center for Complementary and Integrative Health's Time to Talk campaign.",NIDDK,Pregnancy and Thyroid Disease +What to do for Pregnancy and Thyroid Disease ?,"- Thyroid disease is a disorder that results when the thyroid gland produces more or less thyroid hormone than the body needs. - Pregnancy causes normal changes in thyroid function but can also lead to thyroid disease. - Uncontrolled hyperthyroidism during pregnancy can lead to serious health problems in the mother and the unborn baby. - During pregnancy, mild hyperthyroidism does not require treatment. More severe hyperthyroidism is treated with antithyroid medications, which act by interfering with thyroid hormone production. - Uncontrolled hypothyroidism during pregnancy can lead to serious health problems in the mother and can affect the unborn babys growth and brain development. - Hypothyroidism during pregnancy is treated with synthetic thyroid hormone, thyroxine (T4). - Postpartum thyroiditisinflammation of the thyroid glandcauses a brief period of hyperthyroidism, often followed by hypothyroidism that usually goes away within a year. Sometimes the hypothyroidism is permanent.",NIDDK,Pregnancy and Thyroid Disease +What is (are) What I need to know about Crohn's Disease ?,"Crohn's disease is a disease that causes inflammation,* or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. The part most commonly affected is the end part of the small intestine, called the ileum. + +*See the Pronunciation Guide for tips on how to say the words in bold type. + +Crohns disease is one of two main forms of diseases of the GI tract named inflammatory bowel disease (IBD). The other form, called ulcerative colitis, affects the large intestine, which includes the colon and the rectumthe lower end of the large intestine, leading to the anus. + +With Crohns disease, chronicor long lastinginflammation may cause scar tissue to form in the lining of the intestine. When scar tissue builds up, the passage can become narrow, causing food and stool to move through the GI tract more slowlywhich can lead to pain, cramps, and diarrhea.",NIDDK,What I need to know about Crohn's Disease +Who is at risk for What I need to know about Crohn's Disease? ?,"Both men and women can get Crohn's disease, and it can run in families. People with Crohns disease may have a blood relative with the disease or another type of IBD. Crohns disease most commonly starts between the ages of 13 and 30.",NIDDK,What I need to know about Crohn's Disease +What causes What I need to know about Crohn's Disease ?,"Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacteria and viruses. During the attack, white blood cells gather in the intestinal lining. The white blood cells cause chronic inflammation, which leads to ulcers, or sores, and damage to the intestines. + +Other factors associated with Crohns disease are + +- genesthe traits passed down from your parents - unknown triggers caused by the environment",NIDDK,What I need to know about Crohn's Disease +What are the symptoms of What I need to know about Crohn's Disease ?,"Crohn's disease symptoms can be different for each person. The most common symptoms of Crohns disease are + +- abdominal painoften in the lower right area of the abdomen - diarrhea - bleeding in the rectum, which can be seen in a persons underwear, in the toilet, or in a bowel movement; rectal bleeding can be serious and may not stop without medical help - weight loss - fever",NIDDK,What I need to know about Crohn's Disease +How to diagnose What I need to know about Crohn's Disease ?,"A doctor will perform a physical exam and tests to diagnose Crohns disease. During your visit, the doctor will ask about your symptoms and medical history. + +The doctor may order blood tests, which involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Blood tests can show anemia caused by bleeding. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells. Blood tests can also show a high white blood cell count, a sign of chronic inflammation. + + + +You may also be asked for a stool sample. A stool test is commonly used to rule out other causes of GI diseases, such as infections. The doctor will give you a container for catching and storing the stool. The sample is returned to the doctor or a commercial facility and sent to a lab for analysis. A stool sample can also be used to check if you have bleeding or inflammation. + +Other tests may be needed to diagnose Crohn's disease. The following tests are all performed at a hospital or outpatient center. + +- Colonoscopy. Colonoscopy is the most commonly used test to specifically diagnose Crohns disease. This test is used to look inside your rectum, entire colon, and ileum. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You will need to take laxatives and enemas the evening before the test, and you will likely have one or more enemas about 2 hours before the test. A laxative is medicine that loosens stool and increases bowel movements. An enema involves flushing water, laxative, or sometimes a mild soap solution into the anus using a special squirt bottle. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. In most cases, youll be given a light sedative, and possibly pain medicine, to help you relax. You will not feel the biopsy. Cramping or bloating may occur during the first hour after the test. Driving is not permitted for 24 hours after the test to allow the sedative time to wear off. Before the appointment, you should make plans for a ride home. By the next day, you should fully recover and go back to your normal diet. - Flexible sigmoidoscopy. This test is used to look inside the rectum and lower colon. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You may also need a laxative or enema the night before the test. And youll have one or more enemas about 2 hours before the procedure. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy by snipping a bit of tissue from the intestinal lining. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. You will not feel the biopsy. You can usually go back to your normal diet after the test, though you may have cramping or bloating during the first hour after the test. - Computerized tomography (CT) scan. A CT scan uses x rays and computers to create images of the inside of the body. For the test, you will lie on a table that slides into a tunnel-shaped device where the x rays are taken. The technician may give you a solution to drink and an injection of a special dye through a needle inserted into an arm vein. You will not need a sedative for the test. CT scans can be used to help diagnose Crohn's disease. - Upper GI series (x rays). An upper GI series may be done to look at the small intestine. No eating or drinking is allowed for 8 hours before the procedure. You will not need a sedative for the test. During the procedure, you will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. The barium coats the small intestine, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have nausea or bloating for a short time. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test. - Lower GI series (x rays). A lower GI series may be done to look at the large intestine. The health care provider will give you written bowel prep instructions to follow at home before the test. You will be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative or enema is usually used the evening before a lower GI series. Enemas are sometimes repeated the morning of the test. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. The large intestine is filled with barium, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have bloating. You also may have some soreness of the anus. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test.",NIDDK,What I need to know about Crohn's Disease +What is (are) What I need to know about Crohn's Disease ?,"Intestinal blockage can occur in people with Crohns disease when scar tissue blocks the intestinal passage. A narrow intestinal passage is called a stricture. When the passage blocks completely, food and stool stop moving, causing abdominal cramps and vomiting. If you have these symptoms, you should see a health care provider right away. + +Ulcers from Crohns disease can cause tunnels to form through the inflamed areas, or even the healthy parts, of the intestine. These tunnels are called fistulas. Fistulas are seen most often in the areas around the rectum and anus. Sometimes a pocket of infection, called an abscess, can form in and around the fistulas. Most fistulas can be treated with medicines, but sometimes surgery is needed. + +People with Crohns disease often have anemia, which can be caused by the disease itself or by iron deficiency. Anemia may make a person feel tired. + +People with Crohns disease, particularly if they have been treated with steroid medicines, may have weakness of their bonescalled osteoporosis or osteomalacia. + +People with Crohns disease may also have arthritis, skin problems, swelling in the eyes or mouth, kidney stones, gallstones, and liver problems. Some people with Crohns disease may have restless legs syndromeextreme leg discomfort the person feels while sitting or lying down. These problems may go away during treatment, but some must be treated with medicines. + +People who have Crohns disease may not get enough nutrition, such as protein, vitamins, or calories, because they + +- have an upset stomach that keeps them from eating enough calories - may not be able to absorb nutrients in the intestine + +Children with Crohns disease may fail to grow normally and may have low height for their age.",NIDDK,What I need to know about Crohn's Disease +What are the treatments for What I need to know about Crohn's Disease ?,"Treatment for Crohns disease depends on + +- where the disease is located in the GI tract - what problems you already have from the disease - what past treatments you have had for the disease + +The goals of treatment are to + +- decrease the inflammation - relieve symptoms such as abdominal pain, diarrhea, and rectal bleeding - correct nutritional problems + +Treatment may include + +- medicines - surgery - eating, diet, and nutrition + + + +Medicines + +One or more of the following medicines may be used to treat Crohns disease: + +- Anti-inflammation medicines may be used first to treat your Crohn's disease. These medicines help lower inflammation in the intestine and relieve the pain and diarrhea. Sometimes anti-inflammation medicines cause side effects, so you should talk with your health care provider about what to expect. - Steroids also help lower inflammation. Steroids are similar to natural chemicals in the body. However, steroids are used only for a short time because long-term use can lead to serious side effects. - Immune system suppressors. Azathioprine and 6-mercaptopurine work by keeping your immune system from attacking harmless foreign substances. Immune system suppressors also cause side effects, so you should talk with your health care provider about what to expect. - Biological therapies. Biological therapies are medicines that are given by an injection in the vein, infliximab (Remicade), or an injection in the skin, adalimumab (HUMIRA). Your health care provider may treat you with these medicines if others are not helping to decrease inflammation, or if you have fistulas with abscesses. The goals for using these medicines are to get you better, keep you better, and avoid long-term steroid use. - Antibiotics. Antibiotics are used to treat bacterial overgrowth in the small intestine caused by stricture, fistulas, or surgery. For this common problem, the doctor may prescribe one or more of the following antibiotics: ampicillin, sulfonamide, cephalosporin, tetracycline, or metronidazole. + + + +- Anti-diarrheal medicines and fluid replacements. Diarrhea and abdominal cramps are often relieved when the inflammation improves, but more medicine may be needed. Anti-diarrheal medicines include diphenoxylate, loperamide, and codeine. People with diarrhea should drink plenty of fluids to prevent dehydrationloss of fluids from the body. If diarrhea does not improve, the person should see the doctor promptly for possible treatment with fluids given through a small tube inserted into an arm vein. + +Surgery + +Some people with Crohns disease need surgery if medicines are no longer working to control blockage, fistulas, abscesses, and bleeding. A surgeon performs the procedure in a hospital, where you will receive medicine to make you sleep during the surgery. + +One or more of the following surgeries may be needed: + +- Intestinal resection. The surgeon removes the diseased section of intestine and puts the ends of the intestine back together. - Proctocolectomy. Proctocolectomy is surgery to remove the rectum and part or all of the colon. An ileostomy is performed with a proctocolectomy. - Ileostomy. Ileostomy is an operation to create an openingcalled a stomafor the stool to exit the body when the ends of the intestine cannot be put back together. To create a stoma, an end of the intestine is brought out through a small opening made on the lower right part of the abdomen near the beltline. The stoma is about the size of a quarter. An ostomy pouch is worn outside the body over the stoma to collect waste, and it is emptied several times a day. Your health care provider may refer you to an ostomy nursea specialist who cares for people with an ostomy pouch. + +Surgery usually does not cure Crohn's disease forever. Sometimes you need to have more than one surgery because the disease returns next to where the intestine was removed. Because Crohns disease can return after surgery, you can talk with your health care provider and other patients to get as much information as possible before having surgery.",NIDDK,What I need to know about Crohn's Disease +What to do for What I need to know about Crohn's Disease ?,"Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutrition to give the intestine a rest. + +No foods are known to cause injury or inflammation to the intestine. But foods such as hot spices, alcohol, greasy foods, and milk products may make diarrhea and cramping worse. You should eat a healthy diet and avoid foods that make symptoms worse. Your health care provider may refer you to a dietitian to help you with meal planning.",NIDDK,What I need to know about Crohn's Disease +What to do for What I need to know about Crohn's Disease ?,"- Crohn's disease is a disease that causes inflammation, or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. - People with Crohns disease may have a blood relative with the disease or another type of inflammatory bowel disease (IBD). - Symptoms of Crohns disease include abdominal pain, diarrhea, bleeding, weight loss, and fever. - A physical exam, blood tests, stool tests, and other tests are needed to diagnose Crohns disease. - Problems of Crohns disease include intestinal blockage, fistulas, abscesses, anemia, and slower growth in children. - Doctors treat Crohns disease with medicines, surgery, diet, and nutrition. - People with Crohns disease should eat a healthy diet and avoid foods that make symptoms worse. - Quitting smoking can help make Crohns disease less severe. Ask your health care provider if you need help quitting smoking. - Support groups may help lower stress for people with Crohns disease. - Most people with Crohns disease are able to work, raise families, and live full lives. - Many women with Crohns disease can become pregnant and have a baby. You should talk with your health care provider before getting pregnant.",NIDDK,What I need to know about Crohn's Disease +What is (are) Chronic Diarrhea in Children ?,"Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. Children with chronic diarrhea may have loose, watery stools continually, or diarrhea may come and go. Chronic diarrhea may go away without treatment, or it may be a symptom of a chronic disease or disorder. Treating the disease or disorder can relieve chronic diarrhea. + +Chronic diarrhea can affect children of any age: + +- infantsages 0 to 12 months - toddlersages 1 to 3 years - preschool-age childrenages 3 to 5 years - grade school-age childrenages 5 to 12 years - adolescentsages 12 to 18 years + +Diarrhea that lasts only a short time is called acute diarrhea. Acute diarrhea, a common problem, usually lasts a few days and goes away on its own. More information about acute diarrhea is provided in the NIDDK health topics: + +- Diarrhea - What I need to know about Diarrhea",NIDDK,Chronic Diarrhea in Children +What causes Chronic Diarrhea in Children ?,"Many diseases and disorders can cause chronic diarrhea in children. Common causes include + +- infections - functional gastrointestinal (GI) disorders - food allergies and intolerances - inflammatory bowel disease (IBD) + +Infections, food allergies and intolerances, and IBD may cause chronic diarrhea along with malabsorption, meaning the small intestine does not absorb nutrients from food. If children do not absorb enough nutrients from the food they eat, they may become malnourished. Functional GI disorders do not cause malabsorption. + +Infections + +Infections from viruses, bacteria, or parasites sometimes lead to chronic diarrhea. After an infection, some children have problems digesting carbohydrates, such as lactose, or proteins, such as milk or soy proteins. These problems can cause prolonged diarrheaoften for up to 6 weeksafter an infection. Also, some bacteria and parasite infections that cause diarrhea do not go away quickly without treatment. + +More information about infections that cause diarrhea is provided in the NIDDK health topics: + +- Viral Gastroenteritis - Foodborne Illnesses + +Small intestinal bacterial overgrowth may also cause chronic diarrhea. Normally, few bacteria live in the small intestine, and many bacteria live in the large intestine. Small intestinal bacterial overgrowth is an increase in the number of bacteria or a change in the type of bacteria in the small intestine. These bacteria can cause diarrhea, gas, cramping, and weight loss. Small intestinal bacterial overgrowth is often related to diseases or disorders that damage the digestive system or affect how it works, such as Crohns disease or diabetes. Small intestinal bacterial overgrowth is also more common in people who have had abdominal surgery or who have slow-moving intestines. + +Functional Gastrointestinal Disorders + +In functional GI disorders, symptoms are caused by changes in how the GI tract works. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening through which stool leaves the body. The GI tract digests, or breaks down, food and processes solid waste. + +Children with a functional GI disorder have frequent symptoms, yet the GI tract does not become damaged. Functional GI disorders are not diseases; they are groups of symptoms that occur together. + +Two functional GI disorders that cause chronic diarrhea in children are toddlers diarrhea and irritable bowel syndrome (IBS). + +Toddlers diarrhea. Toddlers diarrheaalso called functional diarrhea or chronic nonspecific diarrhea of childhoodis a common cause of chronic diarrhea in toddlers and preschool-age children. Children with this disorder pass three or more loose stools a day and do not have any other symptoms. They typically are growing well and gaining weight, and are healthy. + +Toddlers diarrhea develops between the ages of 6 months and 3 years, and it usually goes away on its own by the time children begin grade school. Researchers think a diet with too much sugarsuch as the sugar found in fruit juicerelative to the amount of fat and fiber may cause toddlers diarrhea. + +IBS. The most common symptoms of IBS are abdominal pain or discomfort, often reported as cramping, along with changes in bowel habits, such as diarrhea. The pain or discomfort of IBS typically gets better with the passage of stool or gas. IBS does not cause symptoms such as weight loss, vomiting, or blood in the stool. + +Possible causes include problems with nerves in the intestines, problems with nerve signals between the brain and the intestines, changes in how food moves through the intestines, and hypersensitivity to pain. Psychological problems, such as anxiety and depression, or food sensitivity may also play a role. + +IBS is a common cause of chronic diarrhea in grade school-age children and adolescents. Health care providers rarely diagnose IBS in younger children because younger children are not able to report symptoms of pain or discomfort. More information is provided in the NIDDK health topics: + +- Irritable Bowel Syndrome - Irritable Bowel Syndrome in Children + +Food Allergies and Intolerances + +Food allergies, celiac disease, lactose intolerance, and dietary fructose intolerance are common causes of chronic diarrhea. + +Food allergies. A food allergy is a reaction by the immune system, the bodys natural defense system, to one or more proteins in certain foods. The immune system normally protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances that can cause illness. In food allergies, however, the immune system responds abnormally to certain foods. + +Cows milk and soy allergies are the most common food allergies that affect the GI tract in children. Food allergies usually appear in the first year of life. Many children outgrow cows milk and soy allergies by age 3. Allergies to other foods, such as cereal grains, eggs, or seafood, may also affect the GI tract. + +Symptoms of food allergies may include diarrhea, vomiting, and weight loss or poor weight gain. Some children have mild symptoms, while others have severe or life-threatening symptoms. For example, some children have severe vomiting and diarrhea that lead to dehydration, which means the body lacks enough fluid and electrolytesminerals in salts, including sodium, potassium, and chlorideto function properly. + +Celiac disease. Celiac disease is an autoimmune disease in which people cannot tolerate gluten. A chronic reaction to gluten damages the lining of their small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley and in vitamin and nutrient supplements, lip balms, communion wafers, and certain medications. + +Children of any age can experience digestive symptoms of celiac disease or have symptoms in other parts of the body. Digestive symptoms can include + +- chronic diarrhea - abdominal bloating - stomach pain - gas - vomiting - constipation - pale, foul-smelling, or fatty stool + +Malabsorption of nutrients during the years when nutrition is critical to a childs normal growth and development can result in other health problems. These problems may include + +- failure to thrive in infants - slowed growth and short stature - weight loss - irritability or mood changes - delayed puberty - dental enamel defects of the permanent teeth - anemia, a condition in which red blood cells are fewer or smaller than normal, which prevents the bodys cells from getting enough oxygen - low levels of important nutrients such as iron and calcium + +More information is provided in the NIDDK health topics: + +- Celiac Disease - What I need to know about Celiac Disease + +Lactose intolerance. Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, gas, and diarrheaafter consuming milk or milk products. Lactose is a sugar found in milk or milk products. Lactase, an enzyme produced by the small intestine, breaks down lactose into two simpler forms of sugar: glucose and galactose. The bloodstream then absorbs these simpler sugars. + +Some children have a lactase deficiency, meaning the small intestine produces low levels of lactase and cannot digest much lactose. Lactase deficiency may cause lactose malabsorption. In children with lactose malabsorption, undigested lactose passes to the colon, where bacteria break down the lactose and create fluid and gas. + +Not all children with lactase deficiency and lactose malabsorption have digestive symptoms. Experts use the term lactose intolerance when lactase deficiency and lactose malabsorption cause digestive symptoms. + +The most common type of lactase deficiency develops over time, beginning after about age 2, when the body begins to produce less lactase. Children who have lactase deficiency may not experience symptoms of lactose intolerance until late adolescence or adulthood. + +Infants rarely have lactose intolerance at birth. People sometimes mistake cows milk allergy, which can cause diarrhea in infants, for lactose intolerance. Congenital lactase deficiencyan extremely rare inherited genetic disorder in which the small intestine produces little or no lactase enzyme at birthcan cause lactose intolerance in infants. Premature infants may experience lactose intolerance for a short time after birth. Children of any age may develop temporary lactose intolerance after a viral diarrheal episode or other infection. + +More information is provided in the NIDDK health topics: + +- Lactose Intolerance - What I need to know about Lactose Intolerance + +Dietary fructose intolerance. Dietary fructose intolerance is a condition in which people have digestive symptomssuch as bloating, gas, and diarrheaafter consuming foods that contain fructose. Fructose is a sugar found in fruits, fruit juices, and honey. Fructose is also added to many foods and soft drinks as a sweetener called high fructose corn syrup. + +Fructose malabsorption causes dietary fructose intolerance. The small intestine absorbs fructose, and, when a person consumes more fructose than the small intestine can absorb, fructose malabsorption results. Unabsorbed fructose passes to the colon, where bacteria break down the fructose and create fluid and gas. + +The amount of fructose that a childs small intestine can absorb varies. The capacity of the small intestine to absorb fructose increases with age. Some children may be able to tolerate more fructose as they get older. + +Another type of fructose intolerance, hereditary fructose intolerance, is not related to fructose malabsorption. Hereditary fructose intolerance is an extremely rare inherited genetic disorder. Children with this disorder lack an enzyme needed to break down fructose. Symptoms of hereditary fructose intolerance may include abdominal pain, vomiting, and diarrhea. This disorder can also damage the liver and kidneys. + +Inflammatory Bowel Disease + +Inflammatory bowel disease causes irritation and inflammation in the intestines. The two main types of IBD are ulcerative colitis and Crohns disease. These disorders can affect children at any age; however, they commonly begin in the grade school years or in adolescence. The causes of IBD are unknown. Researchers believe they result from an abnormal immune system reaction. + +Ulcerative colitis. Ulcerative colitis is a disease that causes inflammation, or swelling, and ulcers in the inner lining of the large intestine. The large intestine includes the colon and the rectumthe lower end of the large intestine leading to the anus. Normally, the large intestine absorbs water from stool and changes it from a liquid to a solid. In ulcerative colitis, the inflammation causes loss of the lining of the large intestine, leading to bleeding, production of pus, diarrhea, and abdominal discomfort. + +More information is provided in the NIDDK health topic, Ulcerative Colitis. + +Crohns disease. Crohns disease is a disease that causes inflammation and irritation of any part of the GI tract. The end part of the small intestine, called the ileum, is most commonly affected. In Crohns disease, inflammation can extend through the entire wall of the GI tract, leading to possible complications. Swelling can cause pain and can make the intestine empty frequently, resulting in diarrhea. + +More information is provided in the NIDDK health topics: + +- Crohns Disease - What I need to know about Crohns Disease",NIDDK,Chronic Diarrhea in Children +What are the symptoms of Chronic Diarrhea in Children ?,"Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include + +- cramping - abdominal pain - nausea or vomiting - fever - chills - bloody stools + +Children with chronic diarrhea who have malabsorption can experience + +- bloating and swelling, also called distention, of the abdomen - changes in appetite - weight loss or poor weight gain + + + +Consult a Health Care Provider A childs parent or caretaker should consult a health care provider if the child - has diarrhea for more than 24 hours - is younger than 6 months old - has received treatment and the diarrhea persists Children with any of the following symptoms should see a health care provider right away: - signs of malabsorptionbloating and swelling of the abdomen, changes in appetite, and weight loss or poor weight gain - severe abdominal or rectal pain - a fever of 102 degrees or higher - stools containing blood or pus More information is provided in the NIDDK health topics: - Diarrhea - What I need to know about Diarrhea",NIDDK,Chronic Diarrhea in Children +What causes Chronic Diarrhea in Children ?,"To determine the cause of chronic diarrhea in children, the health care provider will take a complete medical and family history and conduct a physical exam, and may perform tests. + +Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help determine the cause of chronic diarrhea. He or she will ask for information about symptoms, such as + +- how long the child has had diarrhea - the amount of stool passed - the frequency of diarrhea - the appearance of the stool - the presence of other symptoms that accompany diarrhea + +The health care provider will ask about the childs diet and may recommend keeping a diary of the childs diet and bowel habits. If the health care provider suspects a food allergy or intolerance, he or she may recommend changing the childs diet to see if symptoms improve. + +The health care provider may also ask about family medical history. Some of the conditions that cause chronic diarrhea, such as celiac disease and lactose intolerance, run in families. + +Physical exam. After taking a medical history, a health care provider will perform a physical exam, which may help determine the cause of chronic diarrhea. During a physical exam, a health care provider usually + +- examines a childs body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the childs body + +Tests. The health care provider may perform one or more of the following tests: + +- Stool test. A stool test is the analysis of a sample of stool. The health care provider will give the parent or caretaker a container for catching and storing the stool. The parent or caretaker returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Stool tests can show the presence of blood, bacteria, or parasites or signs of diseases and disorders. The health care provider may also do a rectal exam, sometimes during the physical exam. For a rectal exam, the health care provider inserts a gloved, lubricated finger into the rectum to check for blood in the stool. - Blood test. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can show signs of certain diseases and disorders that can cause chronic diarrhea in children, including - high levels of white blood cells, which may be a sign of inflammation or infection somewhere in the body - anemia, which may be a sign of bleeding in the GI tract or of malabsorption - the presence of certain antibodiesproteins that react against the bodys own cells or tissueswhich may be a sign of celiac disease - Hydrogen breath test. This test measures the amount of hydrogen in a childs breath. Normally, only a small amount of hydrogen is detectable in the breath. However, bacteria break down sugarssuch as lactose and fructosethat are not digested by the small intestine and produce high levels of hydrogen. In small intestinal bacterial overgrowth, bacteria break down sugars in the small intestine and produce hydrogen. For this test, the child breathes into a balloonlike container that measures hydrogen. Then, the child drinks a lactose-loaded beverage, and the childs breath is analyzed at regular intervals to measure the amount of hydrogen. In most cases, a health care provider performs this test at a hospital, on an outpatient basis. A health care provider may use a hydrogen breath test to check for signs of lactose intolerance, fructose intolerance, or small intestinal bacterial overgrowth. - Upper GI endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum, the first part of the small intestine. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The endoscope is carefully fed down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A child may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. A health care provider will place an intravenous (IV) needle in a vein in the arm if general anesthesia is given. The health care provider may use instruments passed through the endoscope to perform a biopsy or collect fluid. A biopsy is a procedure that involves taking a piece of tissue for examination with a microscope. A pathologista doctor who specializes in diagnosing diseasesexamines the tissues in a lab. This test can show problems in the upper GI tract that may cause chronic diarrhea. For example, a biopsy of the small intestine can show signs of celiac disease. A health care provider may use a fluid sample from the small intestine to check for bacteria to diagnose small intestinal bacterial overgrowth. - Flexible sigmoidoscopy or colonoscopy. While these tests are similar, a health care provider uses a colonoscopy to view the rectum and entire colon and a flexible sigmoidoscopy to view just the rectum and lower colon. A gastroenterologist performs these tests at a hospital or an outpatient center. For both tests, the health care provider will give written bowel prep instructions for the child to follow at home. The health care provider may ask that the child follow a clear liquid diet the day before either test. The child may require a laxative for 4 days before either test or only the day before either test. The child may require an enema the day before either test. These medications cause diarrhea, so the child should stay close to a bathroom during the bowel prep. In most cases, light anesthesia, and possibly pain medication, helps the child relax. For either test, the child will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The gastroenterologist may also perform a biopsy by taking a small piece of tissue from the intestinal lining. The child will not feel the biopsy. These tests can show problems in the rectum or colon, such as signs of IBD. Cramping or bloating may occur during the first hour after these tests. The child should recover fully by the next day and be able to return to a normal diet.",NIDDK,Chronic Diarrhea in Children +What are the treatments for Chronic Diarrhea in Children ?,"The treatment for chronic diarrhea will depend on the cause. Some common causes of chronic diarrhea are treated as follows: + +- Infections. If a child has prolonged problems digesting certain carbohydrates or proteins after an acute infection, a health care provider may recommend changes in diet. A child may need antibiotics or medications that target parasites to treat infections that do not go away on their own. A health care provider may also prescribe antibiotics to treat small intestinal bacterial overgrowth. - Functional GI disorders. For toddlers diarrhea, treatment is usually not needed. Most children outgrow toddlers diarrhea by the time they start school. In many children, limiting fruit juice intake and increasing the amount of fiber and fat in the diet may improve symptoms of toddlers diarrhea. A health care provider may treat IBS with - changes in diet. - medication. - probioticslive microorganisms, usually bacteria, that are similar to microorganisms normally found in the GI tract. Studies have found that probiotics, specifically Bifidobacteria and certain probiotic combinations, improve symptoms of IBS when taken in large enough amounts. However, researchers are still studying the use of probiotics to treat IBS. - psychological therapy. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics. + + + +- Food allergies and intolerances. A health care provider will recommend changes in diet to manage symptoms of food allergies and intolerances. To treat food allergies, the childs parent or caretaker should remove the food that triggers the allergy from the childs diet. For children with celiac disease, following a gluten-free diet will stop symptoms, heal existing intestinal damage, and prevent further damage. The childs parent or caretaker can manage the symptoms of lactose intolerance with changes in the childs diet and by using products that contain the lactase enzyme. Most children with lactose intolerance can tolerate some amount of lactose in their diet. The amount of change needed in the diet depends on how much lactose a child can consume without symptoms. For children with dietary fructose intolerance, reducing the amount of fructose in the diet can relieve symptoms. - IBD. A health care provider may use medications, surgery, and changes in diet to treat IBD.",NIDDK,Chronic Diarrhea in Children +What to do for Chronic Diarrhea in Children ?,A health care provider may recommend changing a childs diet to treat the cause of chronic diarrhea. Making sure that children receive proper nutrition is important for growth and development. A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea.,NIDDK,Chronic Diarrhea in Children +What to do for Chronic Diarrhea in Children ?,"- Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. - Many diseases and disorders can cause chronic diarrhea in children. Common causes include infections, functional gastrointestinal (GI) disorders, food allergies and intolerances, and inflammatory bowel disease (IBD). - Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include cramping, abdominal pain, nausea or vomiting, fever, chills, or bloody stools. - Children with chronic diarrhea who have malabsorption can experience bloating and swelling of the abdomen, changes in appetite, or weight loss or poor weight gain. - Children with any of the following symptoms should see a health care provider right away: signs of malabsorption, severe abdominal or rectal pain, a fever of 102 degrees or higher, or stools containing blood or pus. - To determine the cause of chronic diarrhea, the health care provider will take a complete medical and family history and conduct a physical exam, and may perform tests. - The treatment for chronic diarrhea will depend on the cause. - A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea.",NIDDK,Chronic Diarrhea in Children +What is (are) Anemia in Chronic Kidney Disease ?,"Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. With anemia, red blood cells carry less oxygen to tissues and organsparticularly the heart and brainand those tissues and organs may not function as well as they should.",NIDDK,Anemia in Chronic Kidney Disease +What is (are) Anemia in Chronic Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. + +Healthy kidneys produce a hormone called erythropoietin (EPO). A hormone is a chemical produced by the body and released into the blood to help trigger or regulate particular body functions. EPO prompts the bone marrow to make red blood cells, which then carry oxygen throughout the body.",NIDDK,Anemia in Chronic Kidney Disease +What causes Anemia in Chronic Kidney Disease ?,"When kidneys are diseased or damaged, they do not make enough EPO. As a result, the bone marrow makes fewer red blood cells, causing anemia. When blood has fewer red blood cells, it deprives the body of the oxygen it needs. + +Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food: + +- iron - vitamin B12 - folic acid + +These nutrients are necessary for red blood cells to make hemoglobin, the main oxygen-carrying protein in the red blood cells. + +If treatments for kidney-related anemia do not help, the health care provider will look for other causes of anemia, including + +- other problems with bone marrow - inflammatory problemssuch as arthritis, lupus, or inflammatory bowel diseasein which the bodys immune system attacks the bodys own cells and organs - chronic infections such as diabetic ulcers - malnutrition",NIDDK,Anemia in Chronic Kidney Disease +What are the symptoms of Anemia in Chronic Kidney Disease ?,"The signs and symptoms of anemia in someone with CKD may include + +- weakness - fatigue, or feeling tired - headaches - problems with concentration - paleness - dizziness - difficulty breathing or shortness of breath - chest pain + +Anyone having difficulty breathing or with shortness of breath should seek immediate medical care. Anyone who has chest pain should call 911.",NIDDK,Anemia in Chronic Kidney Disease +What are the complications of Anemia in Chronic Kidney Disease ?,"Heart problems are a complication of anemia and may include + +- an irregular heartbeat or an unusually fast heartbeat, especially when exercising. - the harmful enlargement of muscles in the heart. - heart failure, which does not mean the heart suddenly stops working. Instead, heart failure is a long-lasting condition in which the heart cant pump enough blood to meet the bodys needs.",NIDDK,Anemia in Chronic Kidney Disease +How to diagnose Anemia in Chronic Kidney Disease ?,"A health care provider diagnoses anemia based on + +- a medical history - a physical exam - blood tests + +Medical History + +Taking a medical history is one of the first things a health care provider may do to diagnose anemia. He or she will usually ask about the patients symptoms. + +Physical Exam + +A physical exam may help diagnose anemia. During a physical exam, a health care provider usually examines a patients body, including checking for changes in skin color. + +Blood Tests + +To diagnose anemia, a health care provider may order a complete blood count, which measures the type and number of blood cells in the body. A blood test involves drawing a patients blood at a health care providers office or a commercial facility. A health care provider will carefully monitor the amount of hemoglobin in the patients blood, one of the measurements in a complete blood count. + +The Kidney Disease: Improving Global Outcomes Anemia Work Group recommends that health care providers diagnose anemia in males older than age 15 when their hemoglobin falls below 13 grams per deciliter (g/dL) and in females older than 15 when it falls below 12 g/dL.2 If someone has lost at least half of normal kidney function and has low hemoglobin, the cause of anemia may be decreased EPO production. + +Two other blood tests help measure iron levels: + +- The ferritin level helps assess the amount of iron stored in the body. A ferritin score below 200 nanograms (ng) per liter may mean a person has iron deficiency that requires treatment.2 - The transferrin saturation score indicates how much iron is available to make red blood cells. A transferrin saturation score below 30 percent can also mean low iron levels that require treatment.2 + +In addition to blood tests, the health care provider may order other tests, such as tests for blood loss in stool, to look for other causes of anemia.",NIDDK,Anemia in Chronic Kidney Disease +What are the treatments for Anemia in Chronic Kidney Disease ?,"Depending on the cause, a health care provider treats anemia with one or more of the following treatments: + +Iron + +The first step in treating anemia is raising low iron levels. Iron pills may help improve iron and hemoglobin levels. However, for patients on hemodialysis, many studies show pills do not work as well as iron given intravenously.2 + +Erythropoietin + +If blood tests indicate kidney disease as the most likely cause of anemia, treatment can include injections of a genetically engineered form of EPO. A health care provider, often a nurse, injects the patient with EPO subcutaneously, or under the skin, as needed. Some patients learn how to inject the EPO themselves. Patients on hemodialysis may receive EPO intravenously during hemodialysis. + +Studies have shown the use of EPO increases the chance of cardiovascular events, such as heart attack and stroke, in people with CKD. The health care provider will carefully review the medical history of the patient and determine if EPO is the best treatment for the patients anemia. Experts recommend using the lowest dose of EPO that will reduce the need for red blood cell transfusions. Additionally, health care providers should consider the use of EPO only when a patients hemoglobin level is below 10 g/dL. Health care providers should not use EPO to maintain a patients hemoglobin level above 11.5 g/dL.2 Patients who receive EPO should have regular blood tests to monitor their hemoglobin so the health care provider can adjust the EPO dose when the level is too high or too low.2 Health care providers should discuss the benefits and risks of EPO with their patients. + +Many people with kidney disease need iron supplements and EPO to raise their red blood cell count to a level that will reduce the need for red blood cell transfusions. In some people, iron supplements and EPO will improve the symptoms of anemia. + +Red Blood Cell Transfusions + +If a patients hemoglobin falls too low, a health care provider may prescribe a red blood cell transfusion. Transfusing red blood cells into the patients vein raises the percentage of the patients blood that consists of red blood cells, increasing the amount of oxygen available to the body. + +Vitamin B12 and Folic Acid Supplements + +A health care provider may suggest vitamin B12 and folic acid supplements for some people with CKD and anemia. Using vitamin supplements can treat low levels of vitamin B12 or folic acid and help treat anemia. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements, with their health care provider. + +Read more about vitamin B12 and folic acid on the MedlinePlus website at www.nlm.nih.gov/medlineplus. Read more about complementary and alternative medicine at www.nccam.nih.gov.",NIDDK,Anemia in Chronic Kidney Disease +What to do for Anemia in Chronic Kidney Disease ?,"A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets. Some of these foods are high in sodium or phosphorus, which people with CKD should limit in their diet. Before making any dietary changes, people with CKD should talk with their health care provider or with a dietitian who specializes in helping people with kidney disease. A dietitian can help a person plan healthy meals. + +Read more about nutrition for people with CKD on the National Kidney Disease Education Program website. + +The following chart illustrates some good dietary sources of iron, vitamin B12, and folic acid. + +Food Serving Size Iron Vitamin B12 Folic Acid Recommended Daily Value 18 mg 6 mcg 400 mcg 100 percent fortified breakfast cereal cup (1 oz) 18 mg 6 mcg 394 mcg beans, baked 1 cup (8 oz) 8 mg 0 mcg 37 mcg beef, ground 3 oz 2 mg 2 mcg 8 mcg beef liver 3 oz 5 mg 67 mcg 211 mcg clams, fried 4 oz 3 mg 1 mcg 66 mcg spinach, boiled 1 cup (3 oz) 2 mg 0 mcg 115 mcg spinach, fresh 1 cup (1 oz) 1 mg 0 mcg 58 mcg trout 3 oz 0 mg 5 mcg 16 mcg tuna, canned 3 oz 1 mg 1 mcg 2 mcg",NIDDK,Anemia in Chronic Kidney Disease +What to do for Anemia in Chronic Kidney Disease ?,"- Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. - Anemia commonly occurs in people with chronic kidney disease (CKD)the permanent, partial loss of kidney function. Most people who have total loss of kidney function, or kidney failure, have anemia. - When kidneys are diseased or damaged, they do not make enough erythropoietin (EPO). As a result, the bone marrow makes fewer red blood cells, causing anemia. - Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food: - iron - vitamin B12 - folic acid - The first step in treating anemia is raising low iron levels. - If blood tests indicate kidney disease as the most likely cause of anemia, treatment can include injections of a genetically engineered form of EPO. - Many people with kidney disease need iron supplements and EPO to raise their red blood cell count to a level that will reduce the need for red blood cell transfusions. - A health care provider may suggest vitamin B12 and folic acid supplements for some people with CKD and anemia. - A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets.",NIDDK,Anemia in Chronic Kidney Disease +What is (are) Anemia in Chronic Kidney Disease ?,"You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face. + +Booklets + +- Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis + +Fact Sheets + +- Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Treatment Methods for Kidney Failure: Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure + +Learning as much as you can about your treatment will help make you an important member of your health care team. + + + + + +This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. + +The NIDDK would like to thank: John C. Stivelman, M.D., Emory University School of Medicine; Kerri Cavanaugh, M.D., M.H.S., Vanderbilt University + +This information is not copyrighted. The NIDDK encourages people to share this content freely. + + + + + +July 2014",NIDDK,Anemia in Chronic Kidney Disease +What is (are) Vesicoureteral Reflux ?,"Vesicoureteral reflux is the abnormal flow of urine from the bladder to the upper urinary tract. The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. Blood flows through the kidneys, and the kidneys filter out wastes and extra water, making urine. The urine travels down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. + +In VUR, urine may flow backrefluxinto one or both ureters and, in some cases, to one or both kidneys. VUR that affects only one ureter and kidney is called unilateral reflux, and VUR that affects both ureters and kidneys is called bilateral reflux.",NIDDK,Vesicoureteral Reflux +Who is at risk for Vesicoureteral Reflux? ?,"Vesicoureteral reflux is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR.1 Studies estimate that VUR occurs in about 32 percent of siblings of an affected child. This rate may be as low as 7 percent in older siblings and as high as 100 percent in identical twins. These findings indicate that VUR is an inherited condition.2",NIDDK,Vesicoureteral Reflux +What is (are) Vesicoureteral Reflux ?,"The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves. + +Secondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder. + +VUR is usually classified as grade I through V, with grade I being the least severe and grade V being the most severe.",NIDDK,Vesicoureteral Reflux +What are the symptoms of Vesicoureteral Reflux ?,"In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). VUR can lead to infection because urine that remains in the childs urinary tract provides a place for bacteria to grow. Studies estimate that 30 percent of children and up to 70 percent of infants with a UTI have VUR.2",NIDDK,Vesicoureteral Reflux +What are the complications of Vesicoureteral Reflux ?,"When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. However, most children with VUR who get a UTI recover without long-term complications.",NIDDK,Vesicoureteral Reflux +How to diagnose Vesicoureteral Reflux ?,"The most common tests used to diagnose VUR include + +- Voiding cystourethrogram (VCUG). VCUG is an x-ray image of the bladder and urethra taken during urination, also called voiding. The bladder and urethra are filled with a special dye, called contrast medium, to make the urethra clearly visible. The x-ray machine captures a video of the contrast medium when the child urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologista doctor who specializes in medical imagingwho then interprets the images. Anesthesia is not needed, but sedation may be used for some children. This test can show abnormalities of the inside of the urethra and bladder. - Radionuclide cystogram (RNC). RNC is a type of nuclear scan that involves placing radioactive material into the bladder. A scanner then detects the radioactive material as the child urinates or after the bladder is empty. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed, but sedation may be used for some children. RNC is more sensitive than VCUG but does not provide as much detail of the bladder anatomy. - Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract, including the kidneys and bladder. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Ultrasound may be used before VCUG or RNC if the childs family or health care provider wants to avoid exposure to x-ray radiation or radioactive material. + +Testing is usually done on + +- infants diagnosed during pregnancy with urine blockage affecting the kidneys - children younger than 5 years of age with a UTI - children with a UTI and fever, called febrile UTI, regardless of age - males with a UTI who are not sexually active, regardless of age or fever - children with a family history of VUR, including an affected sibling + +More information about urine blockage in infants is provided in the NIDDK health topic, Urine Blockage in Newborns. + +VUR is an unlikely cause of UTI in some children, so these tests are not done until other causes of UTI are ruled out for + +- children 5 years of age and older with a UTI - children with a UTI but no fever - sexually active males with a UTI",NIDDK,Vesicoureteral Reflux +How to diagnose Vesicoureteral Reflux ?,"Following diagnosis, children with VUR should have a general medical evaluation that includes blood pressure measurement, as high blood pressure is an indicator of kidney damage. If both kidneys are affected, a childs blood should be tested for creatininea waste product of normal muscle breakdown. Healthy kidneys remove creatinine from the blood; when the kidneys are damaged, creatinine builds up in the blood. The urine may be tested for the presence of protein and bacteria. Protein in the urine is another indication of damaged kidneys. + +- having to urinate often or suddenly - long periods of time between bathroom visits - daytime wetting - pain in the penis or perineumthe area between the anus and genitals - posturing to prevent wetting - constipationa condition in which a child has fewer than two bowel movements in a week; the bowel movements may be painful - fecal incontinenceinability to hold stool in the colon and rectum, which are parts of the large intestine",NIDDK,Vesicoureteral Reflux +What are the treatments for Vesicoureteral Reflux ?,"The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Antibiotics are bacteria-fighting medications. Surgery has also been used in certain cases. + +Several studies have raised questions about long-term use of antibiotics for prevention of UTIs. The studies found little or no effect on prevention of kidney damage. Long-term use may also make the child resistant to the antibiotic, meaning the medication does not work as well, and the child may be sicker longer and may need to take medications that are even stronger. + +- children younger than 1 year of age continuous antibiotics should be used if a child has a history of febrile UTI or VUR grade III through V that was identified through screening - children older than 1 year of age with BBDcontinuous antibiotics should be used while BBD is being treated - children older than 1 year of age without BBDcontinuous antibiotics can be used at the discretion of the health care provider but is not automatically recommended; however, UTIs should be promptly treated + +Deflux, a gellike liquid containing complex sugars, is an alternative to surgery for treatment of VUR. A small amount of Deflux is injected into the bladder wall near the opening of the ureter. This injection creates a bulge in the tissue that makes it harder for urine to flow back up the ureter. The health care provider uses a special tube to see inside the bladder during the procedure. Deflux injection is an outpatient procedure done under general anesthesia, so the child can go home the same day.",NIDDK,Vesicoureteral Reflux +What are the treatments for Vesicoureteral Reflux ?,"Secondary VUR is treated by removing the blockage causing the reflux. Treatment may involve + +- surgery - antibiotics - intermittent catheterizationdraining the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder",NIDDK,Vesicoureteral Reflux +What to do for Vesicoureteral Reflux ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing VUR.",NIDDK,Vesicoureteral Reflux +What to do for Vesicoureteral Reflux ?,"- Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract. - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR. - In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). - When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. - Voiding cystourethrogram (VCUG), radionuclide cystogram (RNC), and abdominal ultrasound are used to diagnose VUR. - Children with VUR should also be assessed for bladder/bowel dysfunction (BBD). Children who have VUR along with any BBD symptoms are at greater risk of kidney damage due to infection. - The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Surgery has also been used in certain cases. - Secondary VUR is treated by removing the blockage causing the reflux.",NIDDK,Vesicoureteral Reflux +What is (are) Diabetic Kidney Disease ?,"Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. Even when well controlled, diabetes can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. + +Diabetes affects 25.8 million people of all ages in the United States.1 As many as 40 percent of people who have diabetes are expected to develop CKD.2 Diabetes, the most common cause of kidney failure in the United States, accounts for nearly 44 percent of new cases of kidney failure, as illustrated in Figure 1.3",NIDDK,Diabetic Kidney Disease +What is (are) Diabetic Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. + +When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short. + +Kidneys work at the microscopic level. The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which sends needed minerals back to the bloodstream and removes wastes. The final product becomes urine.",NIDDK,Diabetic Kidney Disease +What is (are) Diabetic Kidney Disease ?,"Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. + +Diabetes is a disorder of metabolism the way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. + +Insulin is made in the pancreas, an organ located behind the stomach and below the liver. As blood glucose levels rise after a meal, the pancreas is triggered to release insulin. The pancreas contains clusters of cells called pancreatic islets. Beta cells within the pancreatic islets make insulin and release it into the blood. + +Diabetes develops when the body doesnt make enough insulin, is not able to use insulin effectively, or both. As a result, glucose builds up in the blood instead of being absorbed by cells in the body. The bodys cells are then starved of energy despite high blood glucose levels.",NIDDK,Diabetic Kidney Disease +What are the symptoms of Diabetic Kidney Disease ?,"People with diabetic kidney disease do not have symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. Once kidney function decreases further, symptoms may include + +- appetite loss - nausea - vomiting - drowsiness, or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain",NIDDK,Diabetic Kidney Disease +How to diagnose Diabetic Kidney Disease ?,"A health care provider diagnoses diabetic kidney disease based on + +- a medical and family history - a physical exam - urine tests - a blood test + +Medical and Family History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose diabetic kidney disease. He or she will ask about the symptoms and the patients diabetes history. + +Physical Exam + +After taking a medical and family history, a health care provider will perform a physical exam. During a physical exam, a health care provider usually + +- examines the patients body to check for changes in skin color - taps on specific areas of the patients body, checking for swelling of the feet, ankles, or lower legs + +Urine Tests + +Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine. A patient collects the urine sample in a special container in a health care providers office or a commercial facility. The office or facility tests the sample onsite or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when blood or protein is present in urine. + +Urine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The patient collects a urine sample during an appointment with the health care provider. Creatinine is a waste product that is filtered in the kidneys and passed into the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine. A urine albumin-to-creatinine ratio above 30 mg/g may be a sign of kidney disease. + +Blood Test + +A blood test involves having blood drawn at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may order a blood test to estimate how much blood the kidneys filter each minute, called the estimated glomerular filtration rate (eGFR). The results of the test indicate the following: + +- eGFR of 60 or above is in the normal range - eGFR below 60 may indicate kidney damage - eGFR of 15 or below may indicate kidney failure",NIDDK,Diabetic Kidney Disease +How to diagnose Diabetic Kidney Disease ?,"People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following: + +- urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more - eGFR calculated at least once a year in all people with type 1 or type 2 diabetes",NIDDK,Diabetic Kidney Disease +How to prevent Diabetic Kidney Disease ?,"People can prevent or slow the progression of diabetic kidney disease by + +- taking medications to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity + +People with diabetes should see a health care provider who will help them learn to manage their diabetes and monitor their diabetes control. Most people with diabetes get care from primary care providers, including internists, family practice doctors, or pediatricians. However, having a team of health care providers can often improve diabetes care. In addition to a primary care provider, the team can include + +- an endocrinologista doctor with special training in diabetes - a nephrologista doctor who specializes in treating people who have kidney problems or related conditions - diabetes educators such as a nurse or dietitian - a podiatrista doctor who specializes in foot care - an ophthalmologist or optometrist for eye care - a pharmacist - a dentist - a mental health counselor for emotional support and access to community resources + +The team can also include other health care providers and specialists. + +Blood Pressure Medications + +Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensinconverting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown to slow the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta-blockers, calcium channel blockers, and other blood pressure medications. + +People should talk with their health care provider about their individual blood pressure goals and how often they should have their blood pressure checked. + +Managing Blood Glucose Levels + +People manage blood glucose levels by + +- testing blood glucose throughout the day - following a diet and physical activity plan - taking insulin throughout the day based on food and liquid intake and physical activity + +People with diabetes need to talk with their health care team regularly and follow their directions closely. The goal is to keep blood glucose levels within the normal range or within a range set by the persons health care team. More information about diabetes is provided in the NIDDK health topics: + +- National Diabetes Statistics Report, 2014 - Diagnosis of Diabetes and Prediabetes + +Eating, Diet, and Nutrition + +Following a healthy eating plan can help lower blood pressure and control blood sugar. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan + +- is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, and fewer sweets, added sugars, and sugarcontaining beverages - is rich in nutrients, protein, and fiber + +Read more about DASH at www.nhlbi.nih.gov/health/health-topics/topics/dash. + +People with diabetic kidney disease may need to limit sodium and salt intake to help reduce edema and lower blood pressure. A dietitian may also recommend a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood. + +Health care providers may recommend that people with CKD eat moderate or reduced amounts of protein, though the benefits of reducing protein in a persons diet are still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. More information about diabetes and diet is provided in the NIDDK health topics: + +- What I need to know about Eating and Diabetes and What I need to know about Carbohydrate Counting and Diabetes - Make the Kidney Connection: Food Tips and Healthy Eating Ideas and Eating Right for Kidney Health: Tips for People with Chronic Kidney Disease. + +Weight Loss and Physical Activity + +Health care providers recommend that people who are overweight or obese lose weight to improve their bodies ability to use insulin properly and lower their risk for health problems related to high blood pressure. Overweight is defined as a body mass index (BMI)a measurement of weight in relation to heightof 25 to 29. A BMI of 30 or higher is considered obese. People should aim to keep their BMI lower than 25.4 + +Experts recommend physical activity as an important part of losing weight, keeping sensitivity to insulin, and treating high blood pressure. Most people should try to get at least 30 to 60 minutes of activity most or all days of the week. A person can do all physical activity at once or break up activities into shorter periods of at least 10 minutes each. Moderate activities include brisk walking, dancing, bowling, riding a bike, working in a garden, and cleaning the house. More information is provided in the NIDDK health topic, What I need to know about Physical Activity and Diabetes.",NIDDK,Diabetic Kidney Disease +What are the treatments for Diabetic Kidney Disease ?,"A health care provider may treat kidney failure due to diabetic kidney disease with dialysis or a kidney transplant. In some cases, people with diabetic kidney disease receive kidney and pancreas transplants. + +In most cases, people with diabetic kidney disease start dialysis earlier than people with kidney failure who do not have diabetes. People with diabetic end-stage kidney disease who receive a kidney transplant have a much better survival rate than those people on dialysis, although survival rates for those on dialysis have increasingly improved over time. However, people who receive a kidney transplant and do not have diabetes have a higher survival rate than people with diabetic kidney disease who receive a transplant.5 + +More information about treatment options for kidney failure is provided in the NIDDK health topics: + +- Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Transplantation",NIDDK,Diabetic Kidney Disease +What are the treatments for Diabetic Kidney Disease ?,"People with diabetes should work with their health care team to prevent or manage CKD through the following steps: + +- measure A1C levelsa blood test that provides information about a persons average blood glucose levels for the previous 3 months at least twice a year and keep A1C levels below 7 percent - learn about insulin injections, diabetes medications, meal planning, physical activity, and blood glucose monitoring - find out whether protein, salt, or liquid should be limited in the diet - see a registered dietitian to help with meal planning - check blood pressure every visit with a health care provider or at least two to four times a year - learn about possible benefits from taking an ACE inhibitor or an ARB if a person has high blood pressure - measure eGFR at least once a year to check kidney function - get the amount of protein in the urine tested at least once a year to check for kidney damage",NIDDK,Diabetic Kidney Disease +What to do for Diabetic Kidney Disease ?,"- Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. - People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia. - At the onset of diabetes, blood flow into the kidneys increases, which may strain the glomeruli and lessen their ability to filter blood. - Higher levels of blood glucose lead to the buildup of extra material in the glomeruli, which increases the force of the blood moving through the kidneys and creates stress in the glomeruli. - Many people with diabetes can develop high blood pressure, another factor in the development of kidney disease. High blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the entire body. - Diabetic kidney disease takes many years to develop. - People with diabetic kidney disease do not have any symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. - Once kidney function decreases further, symptoms may include - appetite loss - nausea - vomiting - drowsiness, or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain - People can prevent or slow the progression of diabetic kidney disease by - taking medication to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity",NIDDK,Diabetic Kidney Disease +What is (are) Hemolytic Uremic Syndrome in Children ?,"Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and block the kidneys' filtering system. Red blood cells contain hemoglobinan iron-rich protein that gives blood its red color and carries oxygen from the lungs to all parts of the body. + +When the kidneys and glomerulithe tiny units within the kidneys where blood is filteredbecome clogged with the damaged red blood cells, they are unable to do their jobs. If the kidneys stop functioning, a child can develop acute kidney injurythe sudden and temporary loss of kidney function. Hemolytic uremic syndrome is the most common cause of acute kidney injury in children.",NIDDK,Hemolytic Uremic Syndrome in Children +What is (are) Hemolytic Uremic Syndrome in Children ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder.",NIDDK,Hemolytic Uremic Syndrome in Children +What causes Hemolytic Uremic Syndrome in Children ?,"The most common cause of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. The digestive system is made up of the gastrointestinal, or GI, tracta series of hollow organs joined in a long, twisting tube from the mouth to the anusand other organs that help the body break down and absorb food. + +Normally, harmless strains, or types, of E. coli are found in the intestines and are an important part of digestion. However, if a child becomes infected with the O157:H7 strain of E. coli, the bacteria will lodge in the digestive tract and produce toxins that can enter the bloodstream. The toxins travel through the bloodstream and can destroy the red blood cells. E.coli O157:H7 can be found in + +- undercooked meat, most often ground beef - unpasteurized, or raw, milk - unwashed, contaminated raw fruits and vegetables - contaminated juice - contaminated swimming pools or lakes + +Less common causes, sometimes called atypical hemolytic uremic syndrome, can include + +- taking certain medications, such as chemotherapy - having other viral or bacterial infections - inheriting a certain type of hemolytic uremicsyndrome that runs in families + +More information about foodborne illnesses and the digestive system is provided in the NIDDK health topic, foodborne illnesses.",NIDDK,Hemolytic Uremic Syndrome in Children +What are the symptoms of Hemolytic Uremic Syndrome in Children ?,"A child with hemolytic uremic syndrome may develop signs and symptoms similar to those seen with gastroenteritisan inflammation of the lining of the stomach, small intestine, and large intestine such as + +- vomiting - bloody diarrhea - abdominal pain - fever and chills - headache + +As the infection progresses, the toxins released in the intestine begin to destroy red blood cells. When the red blood cells are destroyed, the child may experience the signs and symptoms of anemiaa condition in which red blood cells are fewer or smaller than normal, which prevents the body's cells from getting enough oxygen. + +Signs and symptoms of anemia may include + +- fatigue, or feeling tired - weakness - fainting - paleness + +As the damaged red blood cells clog the glomeruli, the kidneys may become damaged and make less urine. When damaged, the kidneys work harder to remove wastes and extra fluid from the blood, sometimes leading to acute kidney injury. + +Other signs and symptoms of hemolytic uremic syndrome may include bruising and seizures. + +When hemolytic uremic syndrome causes acute kidney injury, a child may have the following signs and symptoms: + +- edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a child's urine has high levels of albumin, the main protein in the blood - decreased urine output - hypoalbuminemiawhen a child's blood has low levels of albumin - blood in the urine + + + +Seek Immediate Care Parents or caretakers should seek immediate care for a child experiencing any urgent symptoms, such as - unusual bleeding - swelling - extreme fatigue - decreased urine output - unexplained bruises",NIDDK,Hemolytic Uremic Syndrome in Children +How to diagnose Hemolytic Uremic Syndrome in Children ?,"A health care provider diagnoses hemolytic uremic syndrome with + +- a medical and family history - a physical exam - urine tests - a blood test - a stool test - kidney biopsy + +Medical and Family History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemolytic uremic syndrome. + +Physical Exam + +A physical exam may help diagnose hemolytic uremic syndrome. During a physical exam, a health care provider most often + +- examines a child's body - taps on specific areas of the child's body + +Urine Tests + +A health care provider may order the following urine tests to help determine if a child has kidney damage from hemolytic uremic syndrome. + +Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine, which could mean kidney damage. The child or caretaker collects a urine sample in a special container in a health care provider's office or a commercial facility. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the child's urine sample. Patches on the dipstick change color when albumin is present in the urine. + +Urine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The child provides a urine sample during an appointment with the health care provider. Creatinine is a waste product that is filtered in the kidneys and passed in the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine. + +Blood Test + +A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A health care provider will test the blood sample to + +- estimate how much blood the kidneys filter eachminute, called the estimated glomerular filtrationrate, or eGFR. The test results help the healthcare provider determine the amount of kidneydamage from hemolytic uremic syndrome. - check red blood cell and platelet levels. - check for liver and kidney function. - assess protein levels in the blood. + +Stool Test + +A stool test is the analysis of a sample of stool. The health care provider will give the child's parent or caretaker a container for catching and storing the stool. The parent or caretaker returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Stool tests can show the presence of E. coli O157:H7. + +Kidney Biopsy + +Biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The health care provider will give the child light sedation and local anesthetic; however, in some cases, the child will require general anesthesia. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. The pathologist looks for signs of kidney disease and infection. The test can help diagnose hemolytic uremic syndrome.",NIDDK,Hemolytic Uremic Syndrome in Children +What are the complications of Hemolytic Uremic Syndrome in Children ?,"Most children who develop hemolytic uremic syndrome and its complications recover without permanent damage to their health.1 + +However, children with hemolytic uremic syndrome may have serious and sometimes life-threatening complications, including + +- acute kidney injury - high blood pressure - blood-clotting problems that can lead to bleeding - seizures - heart problems - chronic, or long lasting, kidney disease - stroke - coma",NIDDK,Hemolytic Uremic Syndrome in Children +What are the treatments for Hemolytic Uremic Syndrome in Children ?,"A health care provider will treat a child with hemolytic uremic syndrome by addressing + +- urgent symptoms and preventing complications - acute kidney injury - chronic kidney disease (CKD) + +In most cases, health care providers do not treat children with hemolytic uremic syndrome with antibiotics unless they have infections in other areas of the body. With proper management, most children recover without long-term health problems.2 + +Treating Urgent Symptoms and Preventing Complications + +A health care provider will treat a child's urgent symptoms and try to prevent complications by + +- observing the child closely in the hospital - replacing minerals, such as potassium and salt, and fluids through an intravenous (IV) tube - giving the child red blood cells and platelets cells in the blood that help with clottingthrough an IV - giving the child IV nutrition - treating high blood pressure with medications + +Treating Acute Kidney Injury + +If necessary, a health care provider will treat acute kidney injury with dialysisthe process of filtering wastes and extra fluid from the body with an artificial kidney. The two forms of dialysis are hemodialysis and peritoneal dialysis. Most children with acute kidney injury need dialysis for a short time only. + +Treating Chronic Kidney Disease + +Some children may sustain significant kidney damage that slowly develops into CKD. Children who develop CKD must receive treatment to replace the work the kidneys do. The two types of treatment are dialysis and transplantation. + +In most cases, health care providers treat CKD with a kidney transplant. A kidney transplant is surgery to place a healthy kidney from someone who has just died or a living donor, most often a family member, into a person's body to take over the job of the failing kidney. Though some children receive a kidney transplant before their kidneys fail completely, many children begin with dialysis to stay healthy until they can have a transplant. + +More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children.",NIDDK,Hemolytic Uremic Syndrome in Children +How to prevent Hemolytic Uremic Syndrome in Children ?,"Parents and caregivers can help prevent childhood hemolytic uremic syndrome due to E. coli O157:H7 by + +- avoiding unclean swimming areas - avoiding unpasteurized milk, juice, and cider - cleaning utensils and food surfaces often - cooking meat to an internal temperature of at least 160 F - defrosting meat in the microwave or refrigerator - keeping children out of pools if they have had diarrhea - keeping raw foods separate - washing hands before eating - washing hands well after using the restroom and after changing diapers + +When a child is taking medications that may cause hemolytic uremic syndrome, it is important that the parent or caretaker watch for symptoms and report any changes in the child's condition to the health care provider as soon as possible.",NIDDK,Hemolytic Uremic Syndrome in Children +What to do for Hemolytic Uremic Syndrome in Children ?,"At the beginning of the illness, children with hemolytic uremic syndrome may need IV nutrition or supplements to help maintain fluid balance in the body. Some children may need to follow a low-salt diet to help prevent swelling and high blood pressure. + +Health care providers will encourage children with hemolytic uremic syndrome to eat when they are hungry. Most children who completely recover and do not have permanent kidney damage can return to their usual diet.",NIDDK,Hemolytic Uremic Syndrome in Children +What to do for Hemolytic Uremic Syndrome in Children ?,"- Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and block the kidneys' filtering system. - The most common cause of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. - Normally, harmless strains, or types, of E. coli are found in the intestines and are an important part of digestion. However, if a child becomes infected with the O157:H7 strain of E. coli, the bacteria will lodge in the digestive tract and produce toxins that can enter the bloodstream. - A child with hemolytic uremic syndrome may develop signs and symptoms similar to those seen with gastroenteritis, an inflammation of the lining of the stomach, small intestine, and large intestine. - Most children who develop hemolytic uremic syndrome and its complications recover without permanent damage to their health. - Some children may sustain significant kidney damage that slowly develops into chronic kidney disease (CKD). - Parents and caregivers can help prevent childhood hemolytic uremic syndrome due to E. coli O157:H7 by - avoiding unclean swimming areas - avoiding unpasteurized milk, juice, and cider - cleaning utensils and food surfaces often - cooking meat to an internal temperature of at least 160 F - defrosting meat in the microwave or refrigerator - keeping children out of pools if they have had diarrhea - keeping raw foods separate - washing hands before eating - washing hands well after using the restroom and after changing diapers",NIDDK,Hemolytic Uremic Syndrome in Children +What is (are) Zollinger-Ellison Syndrome ?,"Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. The tumors, called gastrinomas, release large amounts of gastrin that cause the stomach to produce large amounts of acid. Normally, the body releases small amounts of gastrin after eating, which triggers the stomach to make gastric acid that helps break down food and liquid in the stomach. The extra acid causes peptic ulcers to form in the duodenum and elsewhere in the upper intestine. + +The tumors seen with Zollinger-Ellison syndrome are sometimes cancerous and may spread to other areas of the body.",NIDDK,Zollinger-Ellison Syndrome +What is (are) Zollinger-Ellison Syndrome ?,"The stomach, duodenum, and pancreas are digestive organs that break down food and liquid. + +- The stomach stores swallowed food and liquid. The muscle action of the lower part of the stomach mixes the food and liquid with digestive juice. Partially digested food and liquid slowly move into the duodenum and are further broken down. - The duodenum is the first part of the small intestinethe tube-shaped organ between the stomach and the large intestinewhere digestion of the food and liquid continues. - The pancreas is an organ that makes the hormone insulin and enzymes for digestion. A hormone is a natural chemical produced in one part of the body and released into the blood to trigger or regulate particular functions of the body. Insulin helps cells throughout the body remove glucose, also called sugar, from blood and use it for energy. The pancreas is located behind the stomach and close to the duodenum.",NIDDK,Zollinger-Ellison Syndrome +What causes Zollinger-Ellison Syndrome ?,"Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1).1 MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum. Symptoms of MEN1 include increased hormone levels in the blood, kidney stones, diabetes, muscle weakness, weakened bones, and fractures. + +More information about MEN1 is provided in the NIDDK health topic, Multiple Endocrine Neoplasia Type 1.",NIDDK,Zollinger-Ellison Syndrome +How many people are affected by Zollinger-Ellison Syndrome ?,"Zollinger-Ellison syndrome is rare and only occurs in about one in every 1 million people.1 Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. A child who has a parent with MEN1 is also at increased risk for Zollinger-Ellison syndrome.2",NIDDK,Zollinger-Ellison Syndrome +What are the symptoms of Zollinger-Ellison Syndrome ?,"Zollinger-Ellison syndrome signs and symptoms are similar to those of peptic ulcers. A dull or burning pain felt anywhere between the navel and midchest is the most common symptom of a peptic ulcer. This discomfort usually + +- occurs when the stomach is emptybetween meals or during the nightand may be briefly relieved by eating food - lasts for minutes to hours - comes and goes for several days, weeks, or months + +Other symptoms include + +- diarrhea - bloating - burping - nausea - vomiting - weight loss - poor appetite + +Some people with Zollinger-Ellison syndrome have only diarrhea, with no other symptoms. Others develop gastroesophageal reflux (GER), which occurs when stomach contents flow back up into the esophagusa muscular tube that carries food and liquids to the stomach. In addition to nausea and vomiting, reflux symptoms include a painful, burning feeling in the midchest. More information about GER is provided in the NIDDK health topic, Gastroesophageal Reflux (GER) and Gastroesophageal Reflux Disease (GERD) in Adults.",NIDDK,Zollinger-Ellison Syndrome +What are the symptoms of Zollinger-Ellison Syndrome ?,"A person who has any of the following emergency symptoms should call or see a health care provider right away: + +- chest pain - sharp, sudden, persistent, and severe stomach pain - red blood in stool or black stools - red blood in vomit or vomit that looks like coffee grounds + +These symptoms could be signs of a serious problem, such as + +- internal bleedingwhen gastric acid or a peptic ulcer breaks a blood vessel - perforationwhen a peptic ulcer forms a hole in the duodenal wall - obstructionwhen a peptic ulcer blocks the path of food trying to leave the stomach",NIDDK,Zollinger-Ellison Syndrome +How to diagnose Zollinger-Ellison Syndrome ?,"A health care provider diagnoses Zollinger-Ellison syndrome based on the following: + +- medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid + +Medical History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose Zollinger-Ellison syndrome. The health care provider may ask about family cases of MEN1 in particular. + +Physical Exam + +A physical exam may help diagnose Zollinger-Ellison syndrome. During a physical exam, a health care provider usually + +- examines a persons body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the persons body + +Signs and Symptoms + +A health care provider may suspect Zollinger-Ellison syndrome if + +- diarrhea accompanies peptic ulcer symptoms or if peptic ulcer treatment fails. - a person has peptic ulcers without the use of nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin and ibuprofen or a bacterial Helicobacter pylori (H. pylori) infection. NSAID use and H. pylori infection may cause peptic ulcers. - a person has severe ulcers that bleed or cause holes in the duodenum or stomach. - a health care provider diagnoses a person or the persons family member with MEN1 or a person has symptoms of MEN1. + +Blood Tests + +The health care provider may use blood tests to check for an elevated gastrin level. A technician or nurse draws a blood sample during an office visit or at a commercial facility and sends the sample to a lab for analysis. A health care provider will ask the person to fast for several hours prior to the test and may ask the person to stop acid-reducing medications for a period of time before the test. A gastrin level that is 10 times higher than normal suggests Zollinger-Ellison syndrome.2 + +A health care provider may also check for an elevated gastrin level after an infusion of secretin. Secretin is a hormone that causes gastrinomas to release more gastrin. A technician or nurse places an intravenous (IV) needle in a vein in the arm to give an infusion of secretin. A health care provider may suspect Zollinger-Ellison syndrome if blood drawn after the infusion shows an elevated gastrin level. + +Upper Gastrointestinal Endoscopy + +The health care provider uses an upper GI endoscopy to check the esophagus, stomach, and duodenum for ulcers and esophagitisa general term used to describe irritation and swelling of the esophagus. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. A technician or nurse inserts an IV needle in a vein in the arm if anesthesia is given. + +Imaging Tests + +To help find gastrinomas, a health care provider may order one or more of the following imaging tests: + +- Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create images. CT scans require the person to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes x rays. A computer puts the different views together to create a model of the pancreas, stomach, and duodenum. The x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The person does not need anesthesia. CT scans can show tumors and ulcers. - Magnetic resonance imaging (MRI). MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The person does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include the injection of contrast medium. With most MRI machines, the person will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the person to lie in a more open space. During an MRI, the person, although usually awake, remains perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images from different angles to create a detailed picture of the upper GI tract. During sequencing, the person will hear loud mechanical knocking and humming noises. - Endoscopic ultrasound. This procedure involves using a special endoscope called an endoechoscope to perform ultrasound of the pancreas. The endoechoscope has a built-in miniature ultrasound probe that bounces safe, painless sound waves off organs to create an image of their structure. A gastroenterologist performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The gastroenterologist carefully feeds the endoechoscope down the esophagus, through the stomach and duodenum, until it is near the pancreas. A person may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. A sedative helps the person stay relaxed and comfortable. The images can show gastrinomas in the pancreas. - Angiogram. An angiogram is a special kind of x ray in which an interventional radiologista specially trained radiologistthreads a thin, flexible tube called a catheter through the large arteries, often from the groin, to the artery of interest. The radiologist injects contrast medium through the catheter so the images show up more clearly on the x ray. The interventional radiologist performs the procedure and interprets the images in a hospital or an outpatient center. A person does not need anesthesia, though a light sedative may help reduce a persons anxiety during the procedure. This test can show gastrinomas in the pancreas. - Somatostatin receptor scintigraphy. An x-ray technician performs this test, also called OctreoScan, at a hospital or an outpatient center, and a radiologist interprets the images. A person does not need anesthesia. A radioactive compound called a radiotracer, when injected into the bloodstream, selectively labels tumor cells. The labeled cells light up when scanned with a device called a gamma camera. The test can show gastrinomas in the duodenum, pancreas, and other parts of the body. + +Small gastrinomas may be hard to see; therefore, health care providers may order several types of imaging tests to find gastrinomas. + +Stomach-acid Measurement + +Using a sample of stomach juices for analysis, a health care provider may measure the amount of stomach acid a person produces. During the exam, a health care provider puts in a nasogastric tubea tiny tube inserted through the nose and throat that reaches into the stomach. A person may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. Once the tube is placed, a health care provider takes samples of the stomach acid. High acid levels in the stomach indicate Zollinger-Ellison syndrome.",NIDDK,Zollinger-Ellison Syndrome +What are the treatments for Zollinger-Ellison Syndrome ?,"A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery. + +Medications + +A class of medications called proton pump inhibitors (PPIs) includes + +- esomeprazole (Nexium) - lansoprazole (Prevacid) - pantoprazole (Protonix) - omeprazole (Prilosec or Zegerid) - dexlansoprazole (Dexilant) + +PPIs stop the mechanism that pumps acid into the stomach, helping to relieve peptic ulcer pain and promote healing. A health care provider may prescribe people who have Zollinger-Ellison syndrome higher-than-normal doses of PPIs to control the acid production. Studies show that PPIs may increase the risk of hip, wrist, and spine fractures when a person takes them long term or in high doses, so its important for people to discuss risks versus benefits with their health care provider. + +Surgery + +Surgical removal of gastrinomas is the only cure for Zollinger-Ellison syndrome. Some gastrinomas spread to other parts of the body, especially the liver and bones. Finding and removing all gastrinomas before they spread is often challenging because many of the tumors are small. + +Chemotherapy + +Health care providers sometimes use chemotherapy drugs to treat gastrinomas that cannot be surgically removed, including + +- streptozotocin (Zanosar) - 5-fluorouracil (Adrucil) - doxorubicin (Doxil)",NIDDK,Zollinger-Ellison Syndrome +What to do for Zollinger-Ellison Syndrome ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Zollinger-Ellison syndrome.",NIDDK,Zollinger-Ellison Syndrome +What to do for Zollinger-Ellison Syndrome ?,"- Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. - Experts do not know the exact cause of Zollinger-Ellison syndrome. - About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). - Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. - Zollinger-Ellison syndrome signs and symptoms are similar to those of peptic ulcers. - Some people with Zollinger-Ellison syndrome have only diarrhea, with no other symptoms. Others develop gastroesophageal reflux (GER). - A health care provider diagnoses Zollinger-Ellison syndrome based on the following: - medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid - A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery.",NIDDK,Zollinger-Ellison Syndrome +What is (are) Cystocele ?,"A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. During urination, also called voiding, the bladder empties through the urethra, located at the bottom of the bladder. The urethra is the tube that carries urine outside of the body. The vagina is the tube in a womans body that runs beside the urethra and connects the womb, or uterus, to the outside of the body.",NIDDK,Cystocele +What causes Cystocele ?,"A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. In a cystocele, the bladder tissue remains covered by the vaginal skin. A cystocele may result from damage to the muscles and tissues that hold the pelvic organs up inside the pelvis. A womans pelvic organs include the vagina, cervix, uterus, bladder, urethra, and small intestine. Damage to or weakening of the pelvic muscles and supportive tissues may occur after vaginal childbirth and with conditions that repeatedly strain or increase pressure in the pelvic area, such as + +- repetitive straining for bowel movements - constipation - chronic or violent coughing - heavy lifting - being overweight or obese + +A womans chances of developing a cystocele increase with age, possibly because of weakening muscles and supportive tissues from aging. Whether menopause increases a womans chances of developing a cystocele is unclear.",NIDDK,Cystocele +What are the symptoms of Cystocele ?,"The symptoms of a cystocele may include + +- a vaginal bulge - the feeling that something is falling out of the vagina - the sensation of pelvic heaviness or fullness - difficulty starting a urine stream - a feeling of incomplete urination - frequent or urgent urination + +Women who have a cystocele may also leak some urine as a result of movements that put pressure on the bladder, called stress urinary incontinence. These movements can include coughing, sneezing, laughing, or physical activity, such as walking. Urinary retentionthe inability to empty the bladder completelymay occur with more severe cystoceles if the cystocele creates a kink in the womans urethra and blocks urine flow. + +Women with mild cystoceles often do not have any symptoms.",NIDDK,Cystocele +How to diagnose Cystocele ?,"Diagnosing a cystocele requires medical tests and a physical exam of the vagina. Medical tests take place in a health care providers office, an outpatient center, or a hospital. The health care provider will ask about symptoms and medical history. A health care provider uses a grading system to determine the severity of a womans cystocele. A cystocele receives one of three grades depending on how far a womans bladder has dropped into her vagina: + +- grade 1mild, when the bladder drops only a short way into the vagina - grade 2moderate, when the bladder drops far enough to reach the opening of the vagina - grade 3most advanced, when the bladder bulges out through the opening of the vagina + +If a woman has difficulty emptying her bladder, a health care provider may measure the amount of urine left in the womans bladder after she urinates. The remaining urine is called the postvoid residual. A health care provider can measure postvoid residual with a bladder ultrasound. A bladder ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off the bladder to create an image and show the amount of remaining urine. A specially trained technician performs the procedure, and a radiologista doctor who specializes in medical imaginginterprets the images. A woman does not need anesthesia. + +A health care provider can also use a cathetera thin, flexible tubeto measure a womans postvoid residual. The health care provider inserts the catheter through the womans urethra into her bladder to remove and measure the amount of remaining urine after the woman has urinated. A postvoid residual of 100 mL or more is a sign that the woman is not completely emptying her bladder. A woman receives local anesthesia. + +A health care provider may use a voiding cystourethrograman x-ray exam of the bladderto diagnose a cystocele as well. A woman gets a voiding cystourethrogram while urinating. The x-ray images show the shape of the womans bladder and let the health care provider see any problems that might block normal urine flow. An x-ray technician performs a voiding cystourethrogram, and a radiologist interprets the images. A woman does not need anesthesia; however, some women may receive sedation. A health care provider may order additional tests to rule out problems in other parts of a womans urinary tract.",NIDDK,Cystocele +What are the treatments for Cystocele ?,"Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms. If a womans cystocele does not bother her, a health care provider may recommend only that she avoid heavy lifting or straining, which could worsen her cystocele. If a woman has symptoms that bother her and wants treatment, the health care provider may recommend pelvic muscle exercises, a vaginal pessary, or surgery. + +Pelvic floor, or Kegel, exercises involve strengthening pelvic floor muscles. Strong pelvic floor muscles more effectively hold pelvic organs in place. A woman does not need special equipment for Kegel exercises. + +The exercises involve tightening and relaxing the muscles that support pelvic organs. A health care provider can help a woman learn proper technique. + +More information about pelvic muscle exercises is provided in the NIDDK health topic, Kegel Exercise Tips. + +A vaginal pessary is a small, silicone medical device placed in the vagina that supports the vaginal wall and holds the bladder in place. Pessaries come in a number of shapes and sizes. A health care provider has many options to choose from to find the most comfortable pessary for a woman. + +A heath care provider may recommend surgery to repair the vaginal wall support and reposition the womans bladder to its normal position. The most common cystocele repair is an anterior vaginal repairor anterior colporrhaphy. The surgeon makes an incision in the wall of the womans vagina and repairs the defect by folding over and sewing together extra supportive tissue between the vagina and bladder. The repair tightens the layers of tissue that separate the organs, creating more support for the bladder. A surgeon who specializes in the urinary tract or female reproductive system performs an anterior vaginal repair in a hospital. The woman receives either regional or general anesthesia. The woman may stay overnight in the hospital, and full recovery may take up to 4 to 6 weeks.",NIDDK,Cystocele +What to do for Cystocele ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing a cystocele.",NIDDK,Cystocele +What to do for Cystocele ?,"- A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. - A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. - Diagnosing a cystocele requires medical tests and a physical exam of the vagina. - Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms.",NIDDK,Cystocele +What is (are) Inguinal Hernia ?,"An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region. + +Two types of inguinal hernias are + +- indirect inguinal hernias, which are caused by a defect in the abdominal wall that is congenital, or present at birth - direct inguinal hernias, which usually occur only in male adults and are caused by a weakness in the muscles of the abdominal wall that develops over time + +Inguinal hernias occur at the inguinal canal in the groin region.",NIDDK,Inguinal Hernia +What is (are) Inguinal Hernia ?,"The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. The spermatic cords contain blood vessels, nerves, and a duct, called the spermatic duct, that carries sperm from the testicles to the penis. In females, the round ligaments, which support the uterus, pass through the inguinal canals.",NIDDK,Inguinal Hernia +What causes Inguinal Hernia ?,"The cause of inguinal hernias depends on the type of inguinal hernia. + +Indirect inguinal hernias. A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia. + +During the development of the fetus in the womb, the lining of the abdominal cavity forms and extends into the inguinal canal. In males, the spermatic cord and testicles descend out from inside the abdomen and through the abdominal lining to the scrotum through the inguinal canal. Next, the abdominal lining usually closes off the entrance to the inguinal canal a few weeks before or after birth. In females, the ovaries do not descend out from inside the abdomen, and the abdominal lining usually closes a couple of months before birth.1 + +Sometimes the lining of the abdomen does not close as it should, leaving an opening in the abdominal wall at the upper part of the inguinal canal. Fat or part of the small intestine may slide into the inguinal canal through this opening, causing a hernia. In females, the ovaries may also slide into the inguinal canal and cause a hernia. + +Indirect hernias are the most common type of inguinal hernia.2 Indirect inguinal hernias may appear in 2 to 3 percent of male children; however, they are much less common in female children, occurring in less than 1 percent.3 + +Direct inguinal hernias. Direct inguinal hernias usually occur only in male adults as aging and stress or strain weaken the abdominal muscles around the inguinal canal. Previous surgery in the lower abdomen can also weaken the abdominal muscles. + +Females rarely form this type of inguinal hernia. In females, the broad ligament of the uterus acts as an additional barrier behind the muscle layer of the lower abdominal wall. The broad ligament of the uterus is a sheet of tissue that supports the uterus and other reproductive organs.",NIDDK,Inguinal Hernia +What are the symptoms of Inguinal Hernia ?,"The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. The bulge may increase in size over time and usually disappears when lying down. + +Other signs and symptoms can include + +- discomfort or pain in the groinespecially when straining, lifting, coughing, or exercisingthat improves when resting - feelings such as weakness, heaviness, burning, or aching in the groin - a swollen or an enlarged scrotum in men or boys + +Indirect and direct inguinal hernias may slide in and out of the abdomen into the inguinal canal. A health care provider can often move them back into the abdomen with gentle massage.",NIDDK,Inguinal Hernia +What are the complications of Inguinal Hernia ?,"Inguinal hernias can cause the following complications: + +- Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back into the abdomen. - Strangulation. When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. This lack of blood supply is an emergency situation and can cause the section of the intestine to die. + + + +Seek Immediate Care People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. Symptoms of an incarcerated or a strangulated hernia include - extreme tenderness or painful redness in the area of the bulge in the groin - sudden pain that worsens quickly and does not go away - the inability to have a bowel movement and pass gas - nausea and vomiting - fever",NIDDK,Inguinal Hernia +How to diagnose Inguinal Hernia ?,"A health care provider diagnoses an inguinal hernia with + +- a medical and family history - a physical exam - imaging tests, including x rays + +Medical and family history. Taking a medical and family history may help a health care provider diagnose an inguinal hernia. Often the symptoms that the patient describes will be signs of an inguinal hernia. + +Physical exam. A physical exam may help diagnose an inguinal hernia. During a physical exam, a health care provider usually examines the patients body. The health care provider may ask the patient to stand and cough or strain so the health care provider can feel for a bulge caused by the hernia as it moves into the groin or scrotum. The health care provider may gently try to massage the hernia back into its proper position in the abdomen. + +Imaging tests. A health care provider does not usually use imaging tests, including x rays, to diagnose an inguinal hernia unless he or she + +- is trying to diagnose a strangulation or an incarceration - cannot feel the inguinal hernia during a physical exam, especially in patients who are overweight - is uncertain if the hernia or another condition is causing the swelling in the groin or other symptoms + +Specially trained technicians perform imaging tests at a health care providers office, an outpatient center, or a hospital. + +A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not usually need anesthesia. + +Tests may include the following: + +- Abdominal x ray. An x ray is a picture recorded on film or on a computer using a small amount of radiation. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The patient will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the patient to change position for additional pictures. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. A health care provider injects the contrast medium into a vein, and the injection will make the patient feel warm all over for a minute or two. The contrast medium allows the health care provider to see the blood vessels and blood flow on the x rays. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. A health care provider may give children a sedative to help them fall asleep for the test. - Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure.",NIDDK,Inguinal Hernia +What are the treatments for Inguinal Hernia ?,"Repair of an inguinal hernia via surgery is the only treatment for inguinal hernias and can prevent incarceration and strangulation. Health care providers recommend surgery for most people with inguinal hernias and especially for people with hernias that cause symptoms. Research suggests that men with hernias that cause few or no symptoms may be able to safely delay surgery until their symptoms increase.3,6 Men who delay surgery should watch for symptoms and see a health care provider regularly. Health care providers usually recommend surgery for infants and children to prevent incarceration.1 Emergent, or immediate, surgery is necessary for incarcerated or strangulated hernias. + +A general surgeona doctor who specializes in abdominal surgeryperforms hernia surgery at a hospital or surgery center, usually on an outpatient basis. Recovery time varies depending on the size of the hernia, the technique used, and the age and health of the person. + +Hernia surgery is also called herniorrhaphy. The two main types of surgery for hernias are + +- Open hernia repair. During an open hernia repair, a health care provider usually gives a patient local anesthesia in the abdomen with sedation; however, some patients may have - sedation with a spinal block, in which a health care provider injects anesthetics around the nerves in the spine, making the body numb from the waist down - general anesthesia + +- The surgeon makes an incision in the groin, moves the hernia back into the abdomen, and reinforces the abdominal wall with stitches. Usually the surgeon also reinforces the weak area with a synthetic mesh or screen to provide additional support. + +- Laparoscopic hernia repair. A surgeon performs laparoscopic hernia repair with the patient under general anesthesia. The surgeon makes several small, half-inch incisions in the lower abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magnified image from inside the body to a video monitor, giving the surgeon a close-up view of the hernia and surrounding tissue. While watching the monitor, the surgeon repairs the hernia using synthetic mesh or screen. + +People who undergo laparoscopic hernia repair generally experience a shorter recovery time than those who have an open hernia repair. However, the surgeon may determine that laparoscopy is not the best option if the hernia is large or if the person has had previous pelvic surgery. + +Most adults experience discomfort and require pain medication after either an open hernia repair or a laparoscopic hernia repair. Intense activity and heavy lifting are restricted for several weeks. The surgeon will discuss when a person may safely return to work. Infants and children also experience some discomfort; however, they usually resume normal activities after several days. + +Surgery to repair an inguinal hernia is quite safe, and complications are uncommon. People should contact their health care provider if any of the following symptoms appear: + +- redness around or drainage from the incision - fever - bleeding from the incision - pain that is not relieved by medication or pain that suddenly worsens + +Possible long-term complications include + +- long-lasting pain in the groin - recurrence of the hernia, requiring a second surgery - damage to nerves near the hernia",NIDDK,Inguinal Hernia +How to prevent Inguinal Hernia ?,"People cannot prevent the weakness in the abdominal wall that causes indirect inguinal hernias. However, people may be able to prevent direct inguinal hernias by maintaining a healthy weight and not smoking. + +People can keep inguinal hernias from getting worse or keep inguinal hernias from recurring after surgery by + +- avoiding heavy lifting - using the legs, not the back, when lifting objects - preventing constipation and straining during bowel movements - maintaining a healthy weight - not smoking",NIDDK,Inguinal Hernia +What to do for Inguinal Hernia ?,"Researchers have not found that eating, diet, and nutrition play a role in causing inguinal hernias. A person with an inguinal hernia may be able to prevent symptoms by eating high-fiber foods. Fresh fruits, vegetables, and whole grains are high in fiber and may help prevent the constipation and straining that cause some of the painful symptoms of a hernia. + +The surgeon will provide instructions on eating, diet, and nutrition after inguinal hernia surgery. Most people drink liquids and eat a light diet the day of the operation and then resume their usual diet the next day.",NIDDK,Inguinal Hernia +What to do for Inguinal Hernia ?,"- An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. - A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia. - Direct inguinal hernias usually occur only in male adults as aging and stress or strain weaken the abdominal muscles around the inguinal canal. Females rarely form this type of inguinal hernia. - The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. - An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. - When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. - People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. - Repair of an inguinal hernia via surgery is the only treatment for inguinal hernias and can prevent incarceration and strangulation.",NIDDK,Inguinal Hernia +What are the treatments for What I need to know about Living with Kidney Failure ?,"Kidney failure means your kidneys no longer work well enough to do their job. You need treatment to replace the work your damaged kidneys have stopped doing. The treatments for kidney failure are + +- hemodialysis - peritoneal dialysis - a kidney transplant + +Your kidneys filter wastes and extra fluid from your blood to keep you healthy. The wastes and extra fluid become urine that is stored in your bladder until you urinate. When your kidneys fail, dialysis can take over a small part of the work your damaged kidneys can no longer do. You can make treatments work better by + +- sticking to your treatment schedule - taking all medicines your doctor prescribes - following a special diet that keeps wastes from building up in your blood - being active most days of the week + +Hemodialysis + +Hemodialysis is a treatment for kidney failure. Hemodialysis uses a machine to filter your blood outside your body. First, a dialysis nurse places two needles into your arm. A pump on the hemodialysis machine draws your blood through one of the needles into a tube. The tube takes the blood to a filter, called a dialyzer. Inside the dialyzer, your blood flows through thin fibers that are like straws. The wastes and extra fluid leave the blood through tiny holes in the fibers. Then, a different tube carries the filtered blood back to your body through the second needle. + +More information is provided in the NIDDK health topics, Treatment Methods for Kidney Failure: Hemodialysis and Home Hemodialysis. + +Peritoneal Dialysis + +catheter + +Treatment Methods for Kidney Failure: Peritoneal Dialysis + +Kidney Transplant + +A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. Then you dont have to wait. + +The new kidney takes over filtering your blood. The damaged kidneys usually stay where they are. The new kidney is placed in the front lower abdomen, on one side of the bladder. Your body normally attacks anything that shouldnt be there, such as bacteria. Your body will think the new kidney shouldnt be there. You will take medicines called immunosuppressants to keep your body from attacking the new kidney. + +More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation. + +*See the Pronunciation Guide for tips on how to say the the words in bold type.",NIDDK,What I need to know about Living with Kidney Failure +What are the treatments for What I need to know about Living with Kidney Failure ?,"Learning about different treatments for kidney failure will help you choose the one that best fits your lifestyle. Talk with your doctor and people on hemodialysis or peritoneal dialysis to learn about the pros and cons of each treatment. Ask your doctor about the transplant waiting list and about medicines required after a transplant. Talk with people who have had kidney transplants and ask how it has changed their lives. + +If you plan to keep working, think about which treatment can help make that easier. If spending time with family and friends means a lot to you, learn about which treatment may give you the most free time. Find out which treatment will give you the best chance to be healthy and live longer. + +Talking with your doctor ahead of time about your options can help you take control of your care. Understanding the treatment you choose and getting used to the idea that you will be receiving this treatment takes time. If you choose one type of dialysis treatment and find it is not a good fit for your life, talk with your doctor about selecting another type of dialysis treatment that better meets your needs. + +While kidney failure can make your life harder, treatments can help improve your life.",NIDDK,What I need to know about Living with Kidney Failure +What to do for What I need to know about Living with Kidney Failure ?,"Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant. Staying healthy with kidney failure requires watching how much of these elements are included in your diet: + +- Protein is in many foods you eat. Protein is in foods from animals and plants. Most diets include both types of protein. Protein provides the building blocks that maintain and repair muscles, organs, and other parts of the body. Too much protein can cause waste to build up in your blood, making your kidneys work harder. However, if you are on hemodialysis or peritoneal dialysis, you need lots of protein to replace the protein that dialysis removes. - Phosphorus is a mineral that keeps your bones healthy. Phosphorus also keeps blood vessels and muscles working. This mineral is found naturally in foods rich in protein, such as meat, poultry, fish, nuts, beans, and dairy products. Phosphorus is also added to many processed foods. You need phosphorus to turn food into energy; however, too much can cause your bones to weaken. - Water is in drinks and in foods such as fruits, vegetables, ice cream, gelatin, soup, and popsicles. Your body needs water; however, too much can cause fluid to build up in your body and make your heart work harder. - Sodium is a part of salt. You can find sodium in many canned, packaged, and fast foods and in seasonings and meats. You need sodium to help control the amount of fluid in your body; however, too much can cause high blood pressure. - Potassium is a mineral that helps your nerves and muscles work the right way. Potassium is found in fruits and vegetables such as oranges, bananas, tomatoes, and potatoes. You need potassium for healthy nerves and brain cells; however, too much can make your heartbeat irregular. - Calories are found in all foods and are especially high in oils and sugary foods. You need calories for energy; however, too many can cause weight gain and high blood sugar. + +Talk with your clinics renal dietitian to find a meal plan that works for you. Each treatment requires a different diet. If you are on hemodialysis, you have to stay away from foods such as potatoes and oranges because they have lots of potassium. If you are on peritoneal dialysis, eating potassium is fine. Instead, you may need to watch your calories. Your food needs will also depend on your weight and activity level. + +Changing your diet may be hard at first. Eating the right foods will help you feel better. You will have more strength and energy. Having more energy will help you live a fuller, healthier life. More information is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis.",NIDDK,What I need to know about Living with Kidney Failure +What to do for What I need to know about Living with Kidney Failure ?,- Kidney failure means your kidneys no longer work well enough to do their job. - Learning about treatments for kidney failure will help you choose the one that best fits your lifestyle. - Many people with kidney failure continue to work. - Physical activity is an important part of staying healthy when you have kidney failure. - You can help prevent relatives from having kidney failure by talking with them about their risk. - Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant.,NIDDK,What I need to know about Living with Kidney Failure +What is (are) What I need to know about Diarrhea ?,"Diarrhea is frequent, loose, and watery bowel movements. Bowel movements, also called stools, are body wastes passed through the rectum and anus. Stools contain what is left after your digestive system absorbs nutrients and fluids from what you eat and drink. If your body does not absorb the fluids, or if your digestive system produces extra fluids, stools will be loose and watery. Loose stools contain more water, salts, and minerals and weigh more than solid stools. + +Diarrhea that lasts a short time is called acute diarrhea. Acute diarrhea is a common problem and usually lasts only 1 or 2 days, but it may last longer. Diarrhea that lasts for at least 4 weeks is called chronic diarrhea. Chronic diarrhea symptoms may be continual or they may come and go. + +*See the Pronunciation Guide for tips on how to say the words in bold type.",NIDDK,What I need to know about Diarrhea +What causes What I need to know about Diarrhea ?,"Causes of diarrhea include + +- bacteria from contaminated food or water - viruses that cause illnesses such as the flu - parasites, which are tiny organisms found in contaminated food or water - medicines such as antibiotics - problems digesting certain foods - diseases that affect the stomach, small intestine, or colon, such as Crohns disease - problems with how the colon functions, caused by disorders such as irritable bowel syndrome + +Sometimes no cause can be found. As long as diarrhea goes away within 1 to 2 days, finding the cause is not usually necessary.",NIDDK,What I need to know about Diarrhea +What are the symptoms of What I need to know about Diarrhea ?,"In addition to passing frequent, loose stools, other possible symptoms include + +- cramps or pain in the abdomenthe area between the chest and hips - an urgent need to use the bathroom - loss of bowel control + +You may feel sick to your stomach or become dehydrated. If a virus or bacteria is the cause of your diarrhea, you may have fever and chills and bloody stools. + +Dehydration + +Being dehydrated means your body does not have enough fluid to work properly. Every time you have a bowel movement, you lose fluids. Diarrhea causes you to lose even more fluids. You also lose salts and minerals such as sodium, chloride, and potassium. These salts and minerals affect the amount of water that stays in your body. + +Dehydration can be serious, especially for children, older adults, and people with weakened immune systems. + +Signs of dehydration in adults are + +- being thirsty - urinating less often than usual - having dark-colored urine - having dry skin - feeling tired - feeling dizzy or fainting + +Signs of dehydration in babies and young children are + +- having a dry mouth and tongue - crying without tears - having no wet diapers for 3 hours or more - having sunken eyes, cheeks, or soft spot in the skull - having a high fever - being more cranky or drowsy than usual + +Also, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released.",NIDDK,What I need to know about Diarrhea +How to diagnose What I need to know about Diarrhea ?,"To find the cause of diarrhea, the health care provider may + +- perform a physical exam - ask about any medicines you are taking - test your stool or blood to look for bacteria, parasites, or other signs of disease or infection - ask you to stop eating certain foods to see whether your diarrhea goes away + +If you have chronic diarrhea, your health care provider may perform other tests to look for signs of disease.",NIDDK,What I need to know about Diarrhea +What are the treatments for What I need to know about Diarrhea ?,"Diarrhea is treated by replacing lost fluids, salts, and minerals to prevent dehydration. + +Taking medicine to stop diarrhea can be helpful in some cases. Medicines you can buy over the counter without a prescription include loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol, Kaopectate). Stop taking these medicines if symptoms get worse or if the diarrhea lasts more than 2 days. If you have bloody diarrhea, you should not use over-the-counter diarrhea medicines. These medicines may make diarrhea last longer. The health care provider will usually prescribe antibiotics instead. + +Over-the-counter medicines for diarrhea may be dangerous for babies and children. Talk with the health care provider before giving your child these medicines.",NIDDK,What I need to know about Diarrhea +What to do for What I need to know about Diarrhea ?,"To prevent dehydration when you have diarrhea, it is important to drink plenty of water, but you also need to drink fluids that contain sodium, chloride, and potassium. + +- Adults should drink water, fruit juices, sports drinks, sodas without caffeine, and salty broths. - Children should drink oral rehydration solutionsspecial drinks that contain salts and minerals to prevent dehydration. These drinks include Pedialyte, Naturalyte, Infalyte, and CeraLyte. These drinks are sold in most grocery stores and drugstores. + +- bananas - plain rice - boiled potatoes - toast - crackers - cooked carrots - baked chicken without the skin or fat + +If a certain food is the cause of diarrhea, try to avoid it. + +- drinks with caffeine, such as coffee and cola - high-fat or greasy foods, such as fried foods - foods with a lot of fiber, such as citrus fruits - sweet foods, such as cakes and cookies + +During or after an episode of diarrhea, some people have trouble digesting lactose, the sugar in milk and milk products. However, you may be able to digest yogurt. Eating yogurt with active, live bacterial cultures may even help you feel better faster. + +When babies have diarrhea, continue breastfeeding or formula feeding as usual. + +After you have had diarrhea caused by a virus, problems digesting lactose may last up to 4 to 6 weeks. You may have diarrhea for a short time after you eat or drink milk or milk products.",NIDDK,What I need to know about Diarrhea +How to prevent What I need to know about Diarrhea ?,"Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea. + +Rotavirus Diarrhea + +Two vaccines, RotaTeq and Rotarix, protect against rotavirusa common virus that causes diarrhea in babies and children. RotaTeq is given to babies in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when the baby is 6 weeks old, and the second is given at least 4 weeks later but before the baby is 24 weeks old. To learn more about rotavirus vaccines, talk with your childs health care provider. You can also find more information at the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus. + +RotaTeq and Rotarix only prevent diarrhea caused by rotavirus. Children who have been vaccinated may still get diarrhea from another cause. + +Travelers Diarrhea + + + +People may develop travelers diarrhea while visiting developing areas of the world such as Latin America, Africa, and southern Asia. Travelers diarrhea is caused by eating food or drinking water that contains harmful bacteria, viruses, or parasites. + +You can prevent travelers diarrhea by being careful: + +- Do not drink tap water, use tap water to brush your teeth, or use ice cubes made from tap water. - Do not eat or drink unpasteurized milk or milk products. - Do not eat raw fruits and vegetables unless they can be peeled and you peel them yourself. - Do not eat raw or rare meat and fish. - Do not eat meat or shellfish that is not hot when served to you. - Do not eat food sold by street vendors. + +You can drink bottled water, carbonated soft drinks, and hot drinks such as coffee and tea. + +Before traveling outside the United States, talk with your health care provider. Your health care provider may suggest taking medicine with you. In some cases, taking antibiotics before traveling can help prevent travelers diarrhea. And early treatment with antibiotics can shorten an episode of travelers diarrhea.",NIDDK,What I need to know about Diarrhea +What to do for What I need to know about Diarrhea ?,"- Diarrhea is frequent, loose, and watery bowel movements. - Acute diarrhea is a common problem. It usually lasts only 1 or 2 days, but it may last longer. - Being dehydrated means your body does not have enough fluid to work properly. Dehydration can be serious, especially for children, older adults, and people with weakened immune systems. - Diarrhea is treated by replacing lost fluids, salts, and minerals. - See your health care provider if you have signs of dehydration, diarrhea for more than 2 days, severe pain in your abdomen or rectum, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - Take your child to a health care provider right away if your child has signs of dehydration, diarrhea for more than 24 hours, a fever of 102 degrees or higher, stools containing blood or pus, or stools that are black and tarry. - Two types of diarrhea can be prevented rotavirus diarrhea and travelers diarrhea.",NIDDK,What I need to know about Diarrhea +What is (are) Viral Hepatitis: A through E and Beyond ?,"Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis. + +All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. Chronic hepatitis can lead to cirrhosis, liver failure, and liver cancer. + +Researchers are looking for other viruses that may cause hepatitis, but none have been identified with certainty. Other viruses that less often affect the liver include cytomegalovirus; Epstein-Barr virus, also called infectious mononucleosis; herpesvirus; parvovirus; and adenovirus.",NIDDK,Viral Hepatitis: A through E and Beyond +What are the symptoms of Viral Hepatitis: A through E and Beyond ?,"Symptoms include + +- jaundice, which causes a yellowing of the skin and eyes - fatigue - abdominal pain - loss of appetite - nausea - vomiting - diarrhea - low grade fever - headache + +However, some people do not have symptoms.",NIDDK,Viral Hepatitis: A through E and Beyond +What to do for Viral Hepatitis: A through E and Beyond ?,"- Viral hepatitis is inflammation of the liver caused by the hepatitis A, B, C, D, or E viruses. - Depending on the type of virus, viral hepatitis is spread through contaminated food or water, contact with infected blood, sexual contact with an infected person, or from mother to child during childbirth. - Vaccines offer protection from hepatitis A and hepatitis B. - No vaccines are available for hepatitis C, D, and E. Reducing exposure to the viruses offers the best protection. - Hepatitis A and E usually resolve on their own. Hepatitis B, C, and D can be chronic and serious. Drugs are available to treat chronic hepatitis.",NIDDK,Viral Hepatitis: A through E and Beyond +What causes Viral Hepatitis: A through E and Beyond ?,"Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. Scientists continue to study the causes of non-AE hepatitis.",NIDDK,Viral Hepatitis: A through E and Beyond +What is (are) Cushing's Syndrome ?,"Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called hypercortisolism, Cushing's syndrome is relatively rare and most commonly affects adults aged 20 to 50. People who are obese and have type 2 diabetes, along with poorly controlled blood glucose-also called blood sugar-and high blood pressure, have an increased risk of developing the disorder.",NIDDK,Cushing's Syndrome +What are the symptoms of Cushing's Syndrome ?,"Signs and symptoms of Cushing's syndrome vary, but most people with the disorder have upper body obesity, a rounded face, increased fat around the neck, and relatively slender arms and legs. Children tend to be obese with slowed growth rates. + +Other signs appear in the skin, which becomes fragile and thin, bruises easily, and heals poorly. Purple or pink stretch marks may appear on the abdomen, thighs, buttocks, arms, and breasts. The bones are weakened, and routine activities such as bending, lifting, or rising from a chair may lead to backaches and rib or spinal column fractures. + +Women with Cushing's syndrome usually have excess hair growth on their face, neck, chest, abdomen, and thighs. Their menstrual periods may become irregular or stop. Men may have decreased fertility with diminished or absent desire for sex and, sometimes, erectile dysfunction. + +Other common signs and symptoms include + +- severe fatigue - weak muscles - high blood pressure - high blood glucose - increased thirst and urination - irritability, anxiety, or depression - a fatty hump between the shoulders + +Sometimes other conditions have many of the same signs as Cushing's syndrome, even though people with these disorders do not have abnormally elevated cortisol levels. For example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of problems that includes excess weight around the waist, high blood pressure, abnormal levels of cholesterol and triglycerides in the blood, and insulin resistance-also mimics the symptoms of Cushing's syndrome.",NIDDK,Cushing's Syndrome +What causes Cushing's Syndrome ?,"Cushing's syndrome occurs when the body's tissues are exposed to high levels of cortisol for too long. Many people develop Cushing's syndrome because they take glucocorticoids-steroid hormones that are chemically similar to naturally produced cortisolsuch as prednisone for asthma, rheumatoid arthritis, lupus, and other inflammatory diseases. Glucocorticoids are also used to suppress the immune system after transplantation to keep the body from rejecting the new organ or tissue. + +Other people develop Cushing's syndrome because their bodies produce too much cortisol. Normally, the production of cortisol follows a precise chain of events. First, the hypothalamus, a part of the brain about the size of a small sugar cube, sends corticotropin-releasing hormone (CRH) to the pituitary gland. CRH causes the pituitary to secrete adrenocorticotropin hormone (ACTH), which stimulates the adrenal glands. When the adrenals, which are located just above the kidneys, receive the ACTH, they respond by releasing cortisol into the bloodstream. + +Cortisol performs vital tasks in the body including + +- helping maintain blood pressure and cardiovascular function - reducing the immune system's inflammatory response - balancing the effects of insulin, which breaks down glucose for energy - regulating the metabolism of proteins, carbohydrates, and fats + +One of cortisol's most important jobs is to help the body respond to stress. For this reason, women in their last 3 months of pregnancy and highly trained athletes normally have high levels of the hormone. People suffering from depression, alcoholism, malnutrition, or panic disorders also have increased cortisol levels. + +When the amount of cortisol in the blood is adequate, the hypothalamus and pituitary release less CRH and ACTH. This process ensures the amount of cortisol released by the adrenal glands is precisely balanced to meet the bodys daily needs. However, if something goes wrong with the adrenals or the regulating switches in the pituitary gland or hypothalamus, cortisol production can go awry. + +Pituitary Adenomas + +Pituitary adenomas cause 70 percent of Cushing's syndrome cases,1 excluding those caused by glucocorticoid use. These benign, or noncancerous, tumors of the pituitary gland secrete extra ACTH. Most people with the disorder have a single adenoma. This form of the syndrome, known as Cushing's disease, affects women five times more often than men. + +Ectopic ACTH Syndrome + +Some benign or, more often, cancerous tumors that arise outside the pituitary can produce ACTH. This condition is known as ectopic ACTH syndrome. Lung tumors cause more than half of these cases, and men are affected three times more often than women. The most common forms of ACTH-producing tumors are small cell lung cancer, which accounts for about 13 percent of all lung cancer cases,2 and carcinoid tumors-small, slow-growing tumors that arise from hormone-producing cells in various parts of the body. Other less common types of tumors that can produce ACTH are thymomas, pancreatic islet cell tumors, and medullary carcinomas of the thyroid. + +Adrenal Tumors + +In rare cases, an abnormality of the adrenal glands, most often an adrenal tumor, causes Cushing's syndrome. Adrenal tumors are four to five times more common in women than men, and the average age of onset is about 40. Most of these cases involve noncancerous tumors of adrenal tissue called adrenal adenomas, which release excess cortisol into the blood. + +Adrenocortical carcinomas-adrenal cancers-are the least common cause of Cushing's syndrome. With adrenocortical carcinomas, cancer cells secrete excess levels of several adrenocortical hormones, including cortisol and adrenal androgens, a type of male hormone. Adrenocortical carcinomas usually cause very high hormone levels and rapid development of symptoms. + +Familial Cushing's Syndrome + +Most cases of Cushing's syndrome are not inherited. Rarely, however, Cushing's syndrome results from an inherited tendency to develop tumors of one or more endocrine glands. Endocrine glands release hormones into the bloodstream. With primary pigmented micronodular adrenal disease, children or young adults develop small cortisol-producing tumors of the adrenal glands. With multiple endocrine neoplasia type 1 (MEN1), hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop; Cushing's syndrome in MEN1 may be due to pituitary, ectopic, or adrenal tumors.",NIDDK,Cushing's Syndrome +How to diagnose Cushing's Syndrome ?,"Diagnosis is based on a review of a person's medical history, a physical examination, and laboratory tests. X rays of the adrenal or pituitary glands can be useful in locating tumors. + +Tests to Diagnose Cushing's Syndrome + +No single lab test is perfect and usually several are needed. The three most common tests used to diagnose Cushing's syndrome are the 24-hour urinary free cortisol test, measurement of midnight plasma cortisol or late-night salivary cortisol, and the low-dose dexamethasone suppression test. Another test, the dexamethasone-corticotropin-releasing hormone test, may be needed to distinguish Cushing's syndrome from other causes of excess cortisol. + +- 24-hour urinary free cortisol level. In this test, a person's urine is collected several times over a 24-hour period and tested for cortisol. Levels higher than 50 to 100 micrograms a day for an adult suggest Cushing's syndrome. The normal upper limit varies in different laboratories, depending on which measurement technique is used. - Midnight plasma cortisol and late-night salivary cortisol measurements. The midnight plasma cortisol test measures cortisol concentrations in the blood. Cortisol production is normally suppressed at night, but in Cushing's syndrome, this suppression doesn't occur. If the cortisol level is more than 50 nanomoles per liter (nmol/L), Cushing's syndrome is suspected. The test generally requires a 48-hour hospital stay to avoid falsely elevated cortisol levels due to stress. However, a late-night or bedtime saliva sample can be obtained at home, then tested to determine the cortisol level. Diagnostic ranges vary, depending on the measurement technique used. - Low-dose dexamethasone suppression test (LDDST). In the LDDST, a person is given a low dose of dexamethasone, a synthetic glucocorticoid, by mouth every 6 hours for 2 days. Urine is collected before dexamethasone is administered and several times on each day of the test. A modified LDDST uses a onetime overnight dose. Cortisol and other glucocorticoids signal the pituitary to release less ACTH, so the normal response after taking dexamethasone is a drop in blood and urine cortisol levels. If cortisol levels do not drop, Cushing's syndrome is suspected. The LDDST may not show a drop in cortisol levels in people with depression, alcoholism, high estrogen levels, acute illness, or stress, falsely indicating Cushing's syndrome. On the other hand, drugs such as phenytoin and phenobarbital may cause cortisol levels to drop, falsely indicating that Cushings is not present in people who actually have the syndrome. For this reason, physicians usually advise their patients to stop taking these drugs at least 1 week before the test. - Dexamethasone-corticotropin-releasing hormone (CRH) test. Some people have high cortisol levels but do not develop the progressive effects of Cushing's syndrome, such as muscle weakness, fractures, and thinning of the skin. These people may have pseudo-Cushing's syndrome, a condition sometimes found in people who have depression or anxiety disorders, drink excess alcohol, have poorly controlled diabetes, or are severely obese. Pseudo-Cushings does not have the same long-term effects on health as Cushing's syndrome and does not require treatment directed at the endocrine glands. The dexamethasone-CRH test rapidly distinguishes pseudo-Cushing's from mild cases of Cushing's. This test combines the LDDST and a CRH stimulation test. In the CRH stimulation test, an injection of CRH causes the pituitary to secrete ACTH. Pretreatment with dexamethasone prevents CRH from causing an increase in cortisol in people with pseudo-Cushing's. Elevations of cortisol during this test suggest Cushing's syndrome. + +Tests to Find the Cause of Cushing's Syndrome + +Once Cushing's syndrome has been diagnosed, other tests are used to find the exact location of the abnormality that leads to excess cortisol production. The choice of test depends, in part, on the preference of the endocrinologist or the center where the test is performed. + +- CRH stimulation test. The CRH test, without pretreatment with dexamethasone, helps separate people with pituitary adenomas from those with ectopic ACTH syndrome or adrenal tumors. As a result of the CRH injection, people with pituitary adenomas usually experience a rise in blood levels of ACTH and cortisol because CRH acts directly on the pituitary. This response is rarely seen in people with ectopic ACTH syndrome and practically never in those with adrenal tumors. - high-dose dexamethasone suppression test (HDDST). The HDDST is the same as the LDDST, except it uses higher doses of dexamethasone. This test helps separate people with excess production of ACTH due to pituitary adenomas from those with ectopic ACTH-producing tumors. High doses of dexamethasone usually suppress cortisol levels in people with pituitary adenomas but not in those with ectopic ACTH-producing tumors. - Radiologic imaging: direct visualization of the endocrine glands. Imaging tests reveal the size and shape of the pituitary and adrenal glands and help determine if a tumor is present. The most common imaging tests are the computerized tomography (CT) scan and magnetic resonance imaging (MRI). A CT scan produces a series of x-ray pictures giving a cross-sectional image of a body part. MRI also produces images of internal organs but without exposing patients to ionizing radiation. Imaging procedures are used to find a tumor after a diagnosis has been made. Imaging is not used to make the diagnosis of Cushing's syndrome because benign tumors are commonly found in the pituitary and adrenal glands. These tumors, sometimes called incidentalomas, do not produce hormones in quantities that are harmful. They are not removed unless blood tests show they are a cause of symptoms or they are unusually large. Conversely, pituitary tumors may not be detectable by imaging in almost half of people who ultimately need pituitary surgery for Cushing's syndrome. - Petrosal sinus sampling. This test is not always required, but in many cases, it is the best way to distinguish pituitary from ectopic causes of Cushing's syndrome. Samples of blood are drawn from the petrosal sinuses-veins that drain the pituitary-by inserting tiny tubes through a vein in the upper thigh or groin region. A local anesthetic and mild sedation are given, and x rays are taken to confirm the correct position of the tubes. Often CRH, the hormone that causes the pituitary to release ACTH, is given during this test to improve diagnostic accuracy. Levels of ACTH in the petrosal sinuses are measured and compared with ACTH levels in a forearm vein. Higher levels of ACTH in the sinuses than in the forearm vein indicate a pituitary adenoma. Similar levels of ACTH in the petrosal sinuses and the forearm suggest ectopic ACTH syndrome.",NIDDK,Cushing's Syndrome +What are the treatments for Cushing's Syndrome ?,"Treatment depends on the specific reason for excess cortisol and may include surgery, radiation, chemotherapy, or the use of cortisol-inhibiting drugs. If the cause is long-term use of glucocorticoid hormones to treat another disorder, the doctor will gradually reduce the dosage to the lowest dose adequate for control of that disorder. Once control is established, the daily dose of glucocorticoid hormones may be doubled and given on alternate days to lessen side effects. In some cases, noncorticosteroid drugs can be prescribed. + +Pituitary Adenomas + +Several therapies are available to treat the ACTH-secreting pituitary adenomas of Cushing's disease. The most widely used treatment is surgical removal of the tumor, known as transsphenoidal adenomectomy. Using a special microscope and fine instruments, the surgeon approaches the pituitary gland through a nostril or an opening made below the upper lip. Because this procedure is extremely delicate, patients are often referred to centers specializing in this type of surgery. The success, or cure, rate of this procedure is more than 80 percent when performed by a surgeon with extensive experience. If surgery fails or only produces a temporary cure, surgery can be repeated, often with good results. + +After curative pituitary surgery, the production of ACTH drops two levels below normal. This drop is natural and temporary, and patients are given a synthetic form of cortisol such as hydrocortisone or prednisone to compensate. Most people can stop this replacement therapy in less than 1 or 2 years, but some must be on it for life. + +If transsphenoidal surgery fails or a patient is not a suitable candidate for surgery, radiation therapy is another possible treatment. Radiation to the pituitary gland is given over a 6-week period, with improvement occurring in 40 to 50 percent of adults and up to 85 percent of children. Another technique, called stereotactic radiosurgery or gamma knife radiation, can be given in a single high-dose treatment. It may take several months or years before people feel better from radiation treatment alone. Combining radiation with cortisol-inhibiting drugs can help speed recovery. + +Drugs used alone or in combination to control the production of excess cortisol are ketoconazole, mitotane, aminoglutethimide, and metyrapone. Each drug has its own side effects that doctors consider when prescribing medical therapy for individual patients. + +Ectopic ACTH Syndrome + +To cure the overproduction of cortisol caused by ectopic ACTH syndrome, all of the cancerous tissue that is secreting ACTH must be eliminated. The choice of cancer treatment-surgery, radiation, chemotherapy, immunotherapy, or a combination of these treatmentsdepends on the type of cancer and how far it has spread. Because ACTH-secreting tumors may be small or widespread at the time of diagnosis, making them difficult to locate and treat directly, cortisol-inhibiting drugs are an important part of treatment. In some cases, if other treatments fail, surgical removal of the adrenal glands, called bilateral adrenalectomy, may replace drug therapy. + +Adrenal Tumors + +Surgery is the mainstay of treatment for benign and cancerous tumors of the adrenal glands. Primary pigmented micronodular adrenal disease and the inherited Carney complex-primary tumors of the heart that can lead to endocrine overactivity and Cushing's syndrome-require surgical removal of the adrenal glands.",NIDDK,Cushing's Syndrome +What to do for Cushing's Syndrome ?,"- Cushing's syndrome is a disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. - Typical signs and symptoms of Cushing's syndrome include upper body obesity, a rounded face, skin that bruises easily and heals poorly, weakened bones, excess body hair growth and menstrual irregularities in women, and decreased fertility in men. - Cushing's syndrome is caused by exposure to glucocorticoids, which are used to treat inflammatory diseases, or by the body's overproduction of cortisol, most often due to tumors of the pituitary gland or lung. - Several tests are usually needed to diagnosis Cushing's syndrome, including urine, blood, and saliva tests. Other tests help find the cause of the syndrome. - Treatment depends on the specific reason for excess cortisol and may include surgery, radiation, chemotherapy, or the use of cortisol-inhibiting drugs.",NIDDK,Cushing's Syndrome +How to diagnose Nonalcoholic Steatohepatitis ?,"NASH is usually first suspected in a person who is found to have elevations in liver tests that are included in routine blood test panels, such as alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x rays or imaging studies of the liver show fat, NASH is suspected. The only means of proving a diagnosis of NASH and separating it from simple fatty liver is a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Currently, no blood tests or scans can reliably provide this information.",NIDDK,Nonalcoholic Steatohepatitis +What are the symptoms of Nonalcoholic Steatohepatitis ?,"NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in some cases, reverse on its own without specific therapy. Or NASH can slowly worsen, causing scarring or fibrosis to appear and accumulate in the liver. As fibrosis worsens, cirrhosis develops; the liver becomes seriously scarred, hardened, and unable to function normally. Not every person with NASH develops cirrhosis, but once serious scarring or cirrhosis is present, few treatments can halt the progression. A person with cirrhosis experiences fluid retention, muscle wasting, bleeding from the intestines, and liver failure. Liver transplantation is the only treatment for advanced cirrhosis with liver failure, and transplantation is increasingly performed in people with NASH. NASH ranks as one of the major causes of cirrhosis in America, behind hepatitis C and alcoholic liver disease.",NIDDK,Nonalcoholic Steatohepatitis +What causes Nonalcoholic Steatohepatitis ?,"Although NASH has become more common, its underlying cause is still not clear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes, but not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. Thus, NASH is not simply obesity that affects the liver. + +While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: + +- insulin resistance - release of toxic inflammatory proteins by fat cells (cytokines) - oxidative stress (deterioration of cells) inside liver cells",NIDDK,Nonalcoholic Steatohepatitis +What are the treatments for Nonalcoholic Steatohepatitis ?,"Currently, no specific therapies for NASH exist. The most important recommendations given to persons with this disease are to + +- reduce their weight (if obese or overweight) - follow a balanced and healthy diet - increase physical activity - avoid alcohol - avoid unnecessary medications + +These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. + +A major attempt should be made to lower body weight into the healthy range. Weight loss can improve liver tests in patients with NASH and may reverse the disease to some extent. Research at present is focusing on how much weight loss improves the liver in patients with NASH and whether this improvement lasts over a period of time. + +People with NASH often have other medical conditions, such as diabetes, high blood pressure, or elevated cholesterol. These conditions should be treated with medication and adequately controlled; having NASH or elevated liver enzymes should not lead people to avoid treating these other conditions. + +Experimental approaches under evaluation in patients with NASH include antioxidants, such as vitamin E, selenium, and betaine. These medications act by reducing the oxidative stress that appears to increase inside the liver in patients with NASH. Whether these substances actually help treat the disease is not known, but the results of clinical trials should become available in the next few years. + +Another experimental approach to treating NASH is the use of newer antidiabetic medicationseven in persons without diabetes. Most patients with NASH have insulin resistance, meaning that the insulin normally present in the bloodstream is less effective for them in controlling blood glucose and fatty acids in the blood than it is for people who do not have NASH. The newer antidiabetic medications make the body more sensitive to insulin and may help reduce liver injury in patients with NASH. Studies of these medicationsincluding metformin, rosiglitazone, and pioglitazoneare being sponsored by the National Institutes of Health and should answer the question of whether these medications are beneficial in NASH.",NIDDK,Nonalcoholic Steatohepatitis +What to do for Nonalcoholic Steatohepatitis ?,"- Nonalcoholic steatohepatitis (NASH) is fat in the liver, with inflammation and damage. - NASH occurs in people who drink little or no alcohol and affects 2 to 5 percent of Americans, especially people who are middle-aged and overweight or obese. - NASH can occur in children. - People who have NASH may feel well and may not know that they have a liver disease. - NASH can lead to cirrhosis, a condition in which the liver is permanently damaged and cannot work properly. - Fatigue can occur at any stage of NASH. - Weight loss and weakness may begin once the disease is advanced or cirrhosis is present. - NASH may be suspected if blood tests show high levels of liver enzymes or if scans show fatty liver. - NASH is diagnosed by examining a small piece of the liver taken through a needle, a procedure called biopsy. - People who have NASH should reduce their weight, eat a balanced diet, engage in physical activity, and avoid alcohol and unnecessary medications. - No specific therapies for NASH exist. Experimental therapies being studied include antioxidants and antidiabetes medications.",NIDDK,Nonalcoholic Steatohepatitis +How to diagnose Your Diabetes Care Records ?,"Test Instructions Results or Dates A1C test - Have this blood test at least twice a year. Your result will tell you what your average blood glucose level was for the past 2 to 3 months. Date: __________ A1C: __________ Next test: __________ Blood lipid (fats) lab tests - Get a blood test to check your - total cholesterolaim for below 200 - LDL, or bad, cholesterolaim for below 100 - HDL, or good, cholesterolmen: aim for above 40; women: aim for above 50 - triglyceridesaim for below 150 Date: __________ Total cholesterol: __________ LDL: __________ HDL: __________ Triglycerides: __________ Next test: __________ Kidney function tests - Once a year, get a urine test to check for protein. - At least once a year, get a blood test to check for creatinine. Date: __________ Urine protein: __________ Creatinine: __________ Next test: __________ Dilated eye exam - See an eye doctor once a year for a complete eye exam that includes using drops in your eyes to dilate your pupils. - If you are pregnant, have a complete eye exam in your first 3 months of pregnancy. Have another complete eye exam 1 year after your baby is born. Date: __________ Result: __________ Next test: __________ Dental exam - See your dentist twice a year for a cleaning and checkup. Date: __________ Result: __________ Next test: __________ Pneumonia vaccine (recommended by the Centers for Disease Control and Prevention [CDC]) - Get the vaccine if you are younger than 64. - If youre older than 64 and your shot was more than 5 years ago, get another vaccine. Date received: __________ Flu vaccine (recommended by the CDC) - Get a flu shot each year. Date received: __________ Hepatitis B vaccine (recommended by the CDC) - Get this vaccine if you are age 19 to 59 and have not had this vaccine. - Consider getting this vaccine if you are 60 or older and have not had this vaccine. Date of 1st dose: __________ Date of 2nd dose: __________ Date of 3rd dose: __________ + +PDF Version (PDF, 40 KB)",NIDDK,Your Diabetes Care Records +What is (are) Henoch-Schnlein Purpura ?,"Henoch-Schnlein purpura is a disease that causes small blood vessels in the body to become inflamed and leak. The primary symptom is a rash that looks like many small raised bruises. HSP can also affect the kidneys, digestive tract, and joints. HSP can occur any time in life, but it is most common in children between 2 and 6 years of age.1 Most people recover from HSP completely, though kidney damage is the most likely long-term complication. In adults, HSP can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant.",NIDDK,Henoch-Schnlein Purpura +What causes Henoch-Schnlein Purpura ?,"Henoch-Schnlein purpura is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. Usually, the immune system makes antibodies, or proteins, to protect the body from foreign substances such as bacteria or viruses. In HSP, these antibodies attack the blood vessels. The factors that cause this immune system response are not known. However, in 30 to 50 percent of cases, people have an upper respiratory tract infection, such as a cold, before getting HSP.2 HSP has also been associated with + +- infectious agents such as chickenpox, measles, hepatitis, and HIV viruses - medications - foods - insect bites - exposure to cold weather - trauma + +Genetics may increase the risk of HSP, as it has occurred in different members of the same family, including in twins.",NIDDK,Henoch-Schnlein Purpura +What are the symptoms of Henoch-Schnlein Purpura ?,"The symptoms of HSP include the following: + +- Rash. Leaking blood vessels in the skin cause a rash that looks like bruises or small red dots on the legs, arms, and buttocks. The rash may first look like hives and then change to look like bruises, and it may spread to the chest, back, and face. The rash does not disappear or turn pale when pressed. - Digestive tract problems. HSP can cause vomiting and abdominal pain, which can range from mild to severe. Blood may also appear in the stool, though severe bleeding is rare. - Arthritis. Pain and swelling can occur in the joints, usually in the knees and ankles and less frequently in the elbows and wrists. - Kidney involvement. Hematuria blood in the urineis a common sign that HSP has affected the kidneys. Proteinurialarge amounts of protein in the urineor development of high blood pressure suggests more severe kidney problems. - Other symptoms. In some cases, boys with HSP develop swelling of the testicles. Symptoms affecting the central nervous system, such as seizures, and lungs, such as pneumonia, have been seen in rare cases. + +Though the rash affects all people with HSP, pain in the joints or abdomen precedes the rash in about one-third of cases by as many as 14 days.1",NIDDK,Henoch-Schnlein Purpura +What are the complications of Henoch-Schnlein Purpura ?,"In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP.1 Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis.3 + +A rare complication of HSP is intussusception of the bowel, which includes the small and large intestines. With this condition, a section of the bowel folds into itself like a telescope, causing the bowel to become blocked. + +Women with a history of HSP who become pregnant are at higher risk for high blood pressure and proteinuria during pregnancy.",NIDDK,Henoch-Schnlein Purpura +How to diagnose Henoch-Schnlein Purpura ?,"A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: + +- abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria + +Antibody deposits on the skin can confirm the diagnosis of HSP. These deposits can be detected using a skin biopsy, a procedure that involves taking a piece of skin tissue for examination with a microscope. A skin biopsy is performed by a health care provider in a hospital with little or no sedation and local anesthetic. The skin tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. + +A kidney biopsy may also be needed. A kidney biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the organ. The kidney tissue is examined in a lab by a pathologist. The test can confirm diagnosis and be used to determine the extent of kidney involvement, which will help guide treatment decisions. + +Hematuria and proteinuria are detected using urinalysis, which is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine sample. Patches on the dipstick change color when blood or protein are present in urine.",NIDDK,Henoch-Schnlein Purpura +What are the treatments for Henoch-Schnlein Purpura ?,"No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease. + +Treatment is rarely required for the rash. Joint pain is often treated with nonsteroidal anti-inflammatory medications, such as aspirin or ibuprofen. Recent research has shown corticosteroidsmedications that decrease swelling and reduce the activity of the immune systemto be even more effective in treating joint pain. Corticosteroids are also used to treat abdominal pain. + +Though rare, surgery may be needed to treat intussusception or to determine the cause of swollen testicles. + +HSP that affects the kidneys may be treated with corticosteroid and immunosuppressive medications. Immunosuppressive medications prevent the body from making antibodies. Adults with severe, acute kidney failure are treated with high-dose corticosteroids and the immunosuppressive cyclophosphamide (Cytoxan). + +People with HSP that is causing high blood pressure may need to take medications thatwhen taken as prescribed by their health care providerlower their blood pressure and can also significantly slow the progression of kidney disease. Two types of blood pressure lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed. + +Blood and urine tests are used to check the kidney function of people with HSP for at least 6 months after the main symptoms disappear.",NIDDK,Henoch-Schnlein Purpura +What to do for Henoch-Schnlein Purpura ?,"Eating, diet, and nutrition have not been shown to play a role in causing or preventing HSP.",NIDDK,Henoch-Schnlein Purpura +What to do for Henoch-Schnlein Purpura ?,"- Henoch-Schnlein purpura (HSP) is a disease that causes small blood vessels in the body to become inflamed and leak. - HSP is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. The factors that cause this immune system response are not known. - The symptoms of HSP include the following: - rash - digestive tract problems - arthritis - kidney involvement - In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP. Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis. - A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: - abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria - Antibody deposits on the skin can confirm the diagnosis of HSP. - No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease.",NIDDK,Henoch-Schnlein Purpura +What is (are) Childhood Nephrotic Syndrome ?,"Childhood nephrotic syndrome is not a disease in itself; rather, it is a group of symptoms that + +- indicate kidney damageparticularly damage to the glomeruli, the tiny units within the kidney where blood is filtered - result in the release of too much protein from the body into the urine + +When the kidneys are damaged, the protein albumin, normally found in the blood, will leak into the urine. Proteins are large, complex molecules that perform a number of important functions in the body. + +The two types of childhood nephrotic syndrome are + +- primarythe most common type of childhood nephrotic syndrome, which begins in the kidneys and affects only the kidneys - secondarythe syndrome is caused by other diseases + +A health care provider may refer a child with nephrotic syndrome to a nephrologista doctor who specializes in treating kidney disease. A child should see a pediatric nephrologist, who has special training to take care of kidney problems in children, if possible. However, in many parts of the country, pediatric nephrologists are in short supply, so the child may need to travel. If traveling is not possible, some nephrologists who treat adults can also treat children.",NIDDK,Childhood Nephrotic Syndrome +What is (are) Childhood Nephrotic Syndrome ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. + +Kidneys work at the microscopic level. The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which sends needed minerals back to the bloodstream and removes wastes.",NIDDK,Childhood Nephrotic Syndrome +What causes Childhood Nephrotic Syndrome ?,"While idiopathic, or unknown, diseases are the most common cause of primary childhood nephrotic syndrome, researchers have linked certain diseases and some specific genetic changes that damage the kidneys with primary childhood nephrotic syndrome. + +The cause of secondary childhood nephrotic syndrome is an underlying disease or infection. Called a primary illness, its this underlying disease or infection that causes changes in the kidney function that can result in secondary childhood nephrotic syndrome. + +Congenital diseasesdiseases that are present at birthcan also cause childhood nephrotic syndrome. + +Primary Childhood Nephrotic Syndrome + +The following diseases are different types of idiopathic childhood nephrotic syndrome: + +- Minimal change disease involves damage to the glomeruli that can be seen only with an electron microscope. This type of microscope shows tiny details better than any other microscope. Scientists do not know the exact cause of minimal change disease. Minimal change disease is the most common cause of idiopathic childhood nephrotic syndrome.1 - Focal segmental glomerulosclerosis is scarring in scattered regions of the kidney: - Focal means that only some of the glomeruli become scarred. - Segmental means damage affects only part of an individual glomerulus. - Membranoproliferative glomerulonephritis is a group of disorders involving deposits of antibodies that build up in the glomeruli, causing thickening and damage. Antibodies are proteins made by the immune system to protect the body from foreign substances such as bacteria or viruses. + +Secondary Childhood Nephrotic Syndrome + +Some common diseases that can cause secondary childhood nephrotic syndrome include + +- diabetes, a condition that occurs when the body cannot use glucosea type of sugarnormally - Henoch-Schnlein purpura, a disease that causes small blood vessels in the body to become inflamed and leak - hepatitis, inflammation of the liver caused by a virus - human immunodeficiency virus (HIV), a virus that alters the immune system - lupus, an autoimmune disease that occurs when the body attacks its own immune system - malaria, a disease of the blood that is spread by mosquitos - streptococcal infection, an infection that results when the bacteria that causes strep throat or a skin infection is left untreated + +Other causes of secondary childhood nephrotic syndrome can include certain medications, such as aspirin, ibuprofen, or other nonsteroidal anti-inflammatory drugs, and exposure to chemicals, such as mercury and lithium. + +Congenital Diseases and Childhood Nephrotic Syndrome + +Congenital nephrotic syndrome is rare and affects infants in the first 3 months of life.2 This type of nephrotic syndrome, sometimes called infantile nephrotic syndrome, can be caused by + +- inherited genetic defects, which are problems passed from parent to child through genes - infections at the time of birth + +More information about underlying diseases or infections that cause changes in kidney function is provided in the NIDDK health topic, Glomerular Diseases.",NIDDK,Childhood Nephrotic Syndrome +What are the symptoms of Childhood Nephrotic Syndrome ?,"The signs and symptoms of childhood nephrotic syndrome may include + +- edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a childs urine has high levels of albumin - hypoalbuminemiawhen a childs blood has low levels of albumin - hyperlipidemiawhen a childs blood cholesterol and fat levels are higher than normal + +In addition, some children with nephrotic syndrome may have + +- blood in their urine - symptoms of infection, such as fever, lethargy, irritability, or abdominal pain - loss of appetite - diarrhea - high blood pressure",NIDDK,Childhood Nephrotic Syndrome +What are the complications of Childhood Nephrotic Syndrome ?,"The complications of childhood nephrotic syndrome may include + +- infection. When the kidneys are damaged, a child is more likely to develop infections because the body loses proteins that normally protect against infection. Health care providers will prescribe medications to treat infections. Children with childhood nephrotic syndrome should receive the pneumococcal vaccine and yearly flu shots to prevent those infections. Children should also receive age-appropriate vaccinations, although a health care provider may delay certain live vaccines while a child is taking certain medications. - blood clots. Blood clots can block the flow of blood and oxygen through a blood vessel anywhere in the body. A child is more likely to develop clots when he or she loses proteins through the urine. The health care provider will treat blood clots with blood-thinning medications. - high blood cholesterol. When albumin leaks into the urine, the albumin levels in the blood drop. The liver makes more albumin to make up for the low levels in the blood. At the same time, the liver makes more cholesterol. Sometimes children may need treatment with medications to lower blood cholesterol levels.",NIDDK,Childhood Nephrotic Syndrome +How to diagnose Childhood Nephrotic Syndrome ?,"A health care provider diagnoses childhood nephrotic syndrome with + +- a medical and family history - a physical exam - urine tests - a blood test - ultrasound of the kidney - kidney biopsy + +Medical and Family History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose childhood nephrotic syndrome. + +Physical Exam + +A physical exam may help diagnose childhood nephrotic syndrome. During a physical exam, a health care provider most often + +- examines a childs body - taps on specific areas of the childs body + +Urine Tests + +A health care provider may order the following urine tests to help determine if a child has kidney damage from childhood nephrotic syndrome. + +Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine, which could mean kidney damage. The child or a caretaker collects a urine sample in a special container. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the childs urine sample. Patches on the dipstick change color when albumin is present in urine. + +Urine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The child provides a urine sample during an appointment with the health care provider. Creatinine is a waste product filtered in the kidneys and passed in the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine. + +Blood Test + +A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The lab tests the sample to estimate how much blood the kidneys filter each minute, called the estimated glomerular filtration rate, or eGFR. The test results help the health care provider determine the amount of kidney damage. Health care providers may also order other blood tests to help determine the underlying disease that may be causing childhood nephrotic syndrome. + +Ultrasound of the Kidney + +Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital. A radiologista doctor who specializes in medical imaginginterprets the images to see if the kidneys look normal; a child does not need anesthesia. + +Kidney Biopsy + +Biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The health care provider will give the child light sedation and local anesthetic; however, in some cases, the child will require general anesthesia. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. The test can help diagnose childhood nephrotic syndrome. + +When the health care provider suspects a child has minimal change disease, he or she often starts treatment with medications without performing a biopsy. If the medication is effective, the child does not need a biopsy. In most cases, a health care provider does not perform a biopsy on children younger than age 12 unless he or she thinks that another disease is the cause.",NIDDK,Childhood Nephrotic Syndrome +What are the treatments for Childhood Nephrotic Syndrome ?,"Health care providers will decide how to treat childhood nephrotic syndrome based on the type: + +- primary childhood nephrotic syndrome: medications - secondary childhood nephrotic syndrome: treat the underlying illness or disease - congenital nephrotic syndrome: medications, surgery to remove one or both kidneys, and transplantation + +Primary Childhood Nephrotic Syndrome + +Health care providers treat idiopathic childhood nephrotic syndrome with several types of medications that control the immune system, remove extra fluid, and lower blood pressure. + +- Control the immune system. Corticosteroids are a group of medications that reduce the activity of the immune system, decrease the amount of albumin lost in the urine, and decrease swelling. Health care providers commonly use prednisone or a related corticosteroid to treat idiopathic childhood nephrotic syndrome. About 90 percent of children achieve remission with daily corticosteroids for 6 weeks and then a slightly smaller dose every other day for 6 weeks.2 Remission is a period when the child is symptom-free. Many children relapse after initial therapy, and health care providers treat them with a shorter course of corticosteroids until the disease goes into remission again. Children may have multiple relapses; however, they most often recover without long-term kidney damage. When a child has frequent relapses or does not respond to treatment, a health care provider may prescribe other medications that reduce the activity of the immune system. These medications prevent the body from making antibodies that can damage kidney tissues. They include - cyclophosphamide - mycophenolate (CellCept, Myfortic) - cyclosporine - tacrolimus (Hecoria, Prograf) A health care provider may use these other immune system medications with corticosteroids or in place of corticosteroids. - Remove extra fluid. A health care provider may prescribe a diuretic, a medication that helps the kidneys remove extra fluid from the blood. Removing the extra fluid can often help to lower blood pressure. - Lower blood pressure. Some children with childhood nephrotic syndrome develop high blood pressure and may need to take additional medications to lower their blood pressure. Two types of blood pressure-lowering medications, angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, have the additional benefit of slowing the progression of kidney disease. Many children with nephrotic syndrome require two or more medications to control their blood pressure. + +Secondary Childhood Nephrotic Syndrome + +Health care providers treat secondary childhood nephrotic syndrome by treating the underlying cause of the primary illness. For example, a health care provider may treat children by + +- prescribing antibiotics for an infection - adjusting medications to treat lupus, HIV, or diabetes - changing or stopping medications that are known to cause secondary childhood nephrotic syndrome + +While treating the underlying cause, the health care provider will also treat the child to improve or restore kidney function with the same medications used to treat primary childhood nephrotic syndrome. + +Caretakers should make sure that children take all prescribed medications and follow the treatment plan recommended by their health care provider. + +More information about specific treatments for secondary childhood nephrotic syndrome is provided in the NIDDK health topic, Glomerular Diseases. + +Congenital Nephrotic Syndrome + +Researchers have found that medications are not effective in treating congenital nephrotic syndrome, and that most children will need a kidney transplant by the time they are 2 or 3 years old. A kidney transplant is surgery to place a healthy kidney from someone who has just died or a living donor, most often a family member, into a persons body to take over the job of the failing kidney. To keep the child healthy until the transplant, the health care provider may recommend the following: + +- albumin injections to make up for the albumin lost in urine - diuretics to help remove extra fluid that causes swelling - antibiotics to treat the first signs of infection - growth hormones to promote growth and help bones mature - removal of one or both kidneys to decrease the loss of albumin in the urine - dialysis to artificially filter wastes from the blood if the kidneys fail + +More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children.",NIDDK,Childhood Nephrotic Syndrome +How to prevent Childhood Nephrotic Syndrome ?,Researchers have not found a way to prevent childhood nephrotic syndrome when the cause is idiopathic or congenital.,NIDDK,Childhood Nephrotic Syndrome +What to do for Childhood Nephrotic Syndrome ?,"Children who have nephrotic syndrome may need to make changes to their diet, such as + +- limiting the amount of sodium, often from salt, they take in each day - reducing the amount of liquids they drink each day - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels + +Parents or caretakers should talk with the childs health care provider before making any changes to the childs diet. + +More information is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children.",NIDDK,Childhood Nephrotic Syndrome +What to do for Childhood Nephrotic Syndrome ?,"- Childhood nephrotic syndrome is not a disease in itself; rather, it is a group of symptoms that - indicate kidney damageparticularly damage to the glomeruli, the tiny units within the kidney where blood is filtered - result in the release of too much protein from the body into the urine - The two types of childhood nephrotic syndrome are - primarythe most common type of childhood nephrotic syndrome, which begins in the kidneys and affects only the kidneys - secondarythe syndrome is caused by other diseases - The signs and symptoms of childhood nephrotic syndrome may include - edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a childs urine has high levels of albumin - hypoalbuminemiawhen a childs blood has low levels of albumin - hyperlipidemiawhen a childs blood cholesterol and fat levels are higher than normal - A health care provider may order urine tests to help determine if a child has kidney damage from childhood nephrotic syndrome. - Health care providers will decide how to treat childhood nephrotic syndrome based on the type: - primary childhood nephrotic syndrome: medications - secondary childhood nephrotic syndrome: treat the underlying illness or disease - congenital nephrotic syndrome: medications, surgery to remove one or both kidneys, or transplantation",NIDDK,Childhood Nephrotic Syndrome +What is (are) Mntriers Disease ?,"Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. + +In a normal stomach, mucous cells in the rugae release protein-containing mucus. The mucous cells in enlarged rugae release too much mucus, causing proteins to leak from the blood into the stomach. This shortage of protein in the blood is known as hypoproteinemia. Mntriers disease also reduces the number of acid-producing cells in the stomach, which decreases stomach acid. + +Mntriers disease is also called Mntrier disease or hypoproteinemic hypertrophic gastropathy.",NIDDK,Mntriers Disease +What causes Mntriers Disease ?,"Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. In extremely rare cases, siblings have developed Mntriers disease as children, suggesting a genetic link. + +Studies suggest that people with Mntriers disease have stomachs that make abnormally high amounts of a protein called transforming growth factor-alpha (TGF-). + +TGF- binds to and activates a receptor called epidermal growth factor receptor. Growth factors are proteins in the body that tell cells what to do, such as grow larger, change shape, or divide to make more cells. Researchers have not yet found a cause for the overproduction of TGF-. + +Some studies have found cases of people with Mntriers disease who also had Helicobacter pylori (H. pylori) infection. H. pylori is a bacterium that is a cause of peptic ulcers, or sores on the lining of the stomach or the duodenum, the first part of the small intestine. In these cases, treatment for H. pylori reversed and improved the symptoms of Mntriers disease.1 + +Researchers have linked some cases of Mntriers disease in children to infection with cytomegalovirus (CMV). CMV is one of the herpes viruses. This group of viruses includes the herpes simplex viruses, which cause chickenpox, shingles, and infectious mononucleosis, also known as mono. Most healthy children and adults infected with CMV have no symptoms and may not even know they have an infection. However, in people with a weakened immune system, CMV can cause serious disease, such as retinitis, which can lead to blindness. + +Researchers are not sure how H. pylori and CMV infections contribute to the development of Mntriers disease.",NIDDK,Mntriers Disease +Who is at risk for Mntriers Disease? ?,Mntriers disease is rare. The disease is more common in men than in women. The average age at diagnosis is 55.2,NIDDK,Mntriers Disease +What are the symptoms of Mntriers Disease ?,"The most common symptom of Mntriers disease is pain in the upper middle part of the abdomen. The abdomen is the area between the chest and hips. + +Other signs and symptoms of Mntriers disease may include + +- nausea and frequent vomiting - diarrhea - loss of appetite - extreme weight loss - malnutrition - low levels of protein in the blood - swelling of the face, abdomen, limbs, and feet due to low levels of protein in the blood - anemiatoo few red blood cells in the body, which prevents the body from getting enough oxygendue to bleeding in the stomach + +People with Mntriers disease have a higher chance of developing stomach cancer, also called gastric cancer.",NIDDK,Mntriers Disease +How to diagnose Mntriers Disease ?,"Health care providers base the diagnosis of Mntriers disease on a combination of symptoms, lab findings, findings on upper gastrointestinal (GI) endoscopy, and stomach biopsy results. A health care provider will begin the diagnosis of Mntriers disease by taking a patients medical and family history and performing a physical exam. However, a health care provider will confirm the diagnosis of Mntriers disease through a computerized tomography (CT) scan, an upper GI endoscopy, and a biopsy of stomach tissue. A health care provider also may order blood tests to check for infection with H. pylori or CMV. + +Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose Mntriers disease. He or she will ask the patient to provide a medical and family history. + +Physical exam. A physical exam may help diagnose Mntriers disease. During a physical exam, a health care provider usually + +- examines a patients body - uses a stethoscope to listen to bodily sounds - taps on specific areas of the patients body + +CT scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets them. The patient does not need anesthesia. CT scans can show enlarged folds in the stomach wall. + +Upper GI endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the stomach lining. The gastroenterologist also can take a biopsy of the stomach tissue during the endoscopy. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patients throat. A health care provider will place an intravenous (IV) needle in a vein in the arm to administer sedation. Sedatives help patients stay relaxed and comfortable. The test can show enlarged folds in the stomach wall. + +Biopsy. Biopsy is a procedure that involves taking a piece of stomach tissue for examination with a microscope. A gastroenterologist performs the biopsy at the time of upper GI endoscopy. A pathologista doctor who specializes in diagnosing diseasesexamines the stomach tissue in a lab. The test can diagnose Mntriers disease by showing changes in the stomachs mucous cells and acid-producing cells. + +Blood test. A health care provider will take a blood sample that can show the presence of infection with H. pylori or CMV. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis.",NIDDK,Mntriers Disease +What are the treatments for Mntriers Disease ?,"Treatment may include medications, IV protein, blood transfusions, and surgery. + +Medications + +Health care providers may prescribe the anticancer medication cetuximab (Erbitux) to treat Mntriers disease. Studies have shown that cetuximab blocks the activity of epidermal growth factor receptor and can significantly improve a persons symptoms, as well as decrease the thickness of the stomach wall from the overgrowth of mucous cells. A person receives cetuximab by IV in a health care providers office or an outpatient center. Studies to assess the effectiveness of cetuximab to treat Mntriers disease are ongoing. A health care provider also may prescribe medications to relieve nausea and abdominal pain. + +In people with Mntriers disease who also have H. pylori or CMV infection, treatment of the infection may improve symptoms. Health care providers prescribe antibiotics to kill H. pylori. Antibiotic regimens may differ throughout the world because some strains of H. pylori have become resistant to certain antibioticsmeaning that an antibiotic that once destroyed the bacterium is no longer effective. Health care providers use antiviral medications to treat CMV infection in a person with a weakened immune system in order to prevent a serious disease from developing as a result of CMV. Antiviral medications cannot kill CMV; however, they can slow down the virus reproduction. + +Intravenous Protein and Blood Transfusions + +A health care provider may recommend an IV treatment of protein and a blood transfusion to a person who is malnourished or anemic because of Mntriers disease. In most cases of children with Mntriers disease who also have had CMV infection, treatment with protein and a blood transfusion led to a full recovery. + +Surgery + +If a person has severe Mntriers disease with significant protein loss, a surgeon may need to remove part or all of the stomach in a surgery called gastrectomy. + +Surgeons perform gastrectomy in a hospital. The patient will require general anesthesia. Some surgeons perform a gastrectomy through laparoscopic surgery rather than through a wide incision in the abdomen. In laparoscopic surgery, the surgeon uses several smaller incisions and feeds special surgical tools through the incisions to remove the diseased part of the stomach. After gastrectomy, the surgeon may reconstruct the changed portions of the GI tract so that it may continue to function. Usually the surgeon attaches the small intestine to any remaining portion of the stomach or to the esophagus if he or she removed the entire stomach.",NIDDK,Mntriers Disease +What to do for Mntriers Disease ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Mntriers disease. In some cases, a health care provider may prescribe a high-protein diet to offset the loss of protein due to Mntriers disease. Some people with severe malnutrition may require IV nutrition, which is called total parenteral nutrition (TPN). TPN is a method of providing an IV liquid food mixture through a special tube in the chest.",NIDDK,Mntriers Disease +What to do for Mntriers Disease ?,"- Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. - Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. - Mntriers disease is rare. The disease is more common in men than in women. - The most common symptom of Mntriers disease is pain in the upper middle part of the abdomen. - Health care providers base the diagnosis of Mntriers disease on a combination of symptoms, lab findings, findings on upper gastrointestinal (GI) endoscopy, and stomach biopsy results. - Treatment may include medications, intravenous (IV) protein, blood transfusions, and surgery.",NIDDK,Mntriers Disease +What is (are) Diverticular Disease ?,"Diverticular disease is a condition that occurs when a person has problems from small pouches, or sacs, that have formed and pushed outward through weak spots in the colon wall. Each pouch is called a diverticulum. Multiple pouches are called diverticula. + +The colon is part of the large intestine. The large intestine absorbs water from stool and changes it from a liquid to a solid form. Diverticula are most common in the lower part of the colon, called the sigmoid colon. + +The problems that occur with diverticular disease include diverticulitis and diverticular bleeding. Diverticulitis occurs when the diverticula become inflamed, or irritated and swollen, and infected. Diverticular bleeding occurs when a small blood vessel within the wall of a diverticulum bursts.",NIDDK,Diverticular Disease +What is (are) Diverticular Disease ?,"When a person has diverticula that do not cause diverticulitis or diverticular bleeding, the condition is called diverticulosis. Most people with diverticulosis do not have symptoms. Some people with diverticulosis have constipation or diarrhea. People may also have chronic + +- cramping or pain in the lower abdomenthe area between the chest and hips - bloating + +Other conditions, such as irritable bowel syndrome and stomach ulcers, cause similar problems, so these symptoms do not always mean a person has diverticulosis. People with these symptoms should see their health care provider.",NIDDK,Diverticular Disease +What causes Diverticular Disease ?,"Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the time processed foods were introduced into the American diet. Consumption of processed foods greatly reduced Americans fiber intake. Diverticulosis and diverticular disease are common in Western and industrialized countriesparticularly the United States, England, and Australiawhere low-fiber diets are common. The condition is rare in Asia and Africa, where most people eat high-fiber diets.1 Two large studies also indicate that a low-fiber diet may increase the chance of developing diverticular disease.2 + +However, a recent study found that a low-fiber diet was not associated with diverticulosis and that a high-fiber diet and more frequent bowel movements may be linked to an increased rather than decreased chance of diverticula.3 + +Other studies have focused on the role of decreased levels of the neurotransmitter serotonin in causing decreased relaxation and increased spasms of the colon muscle. A neurotransmitter is a chemical that helps brain cells communicate with nerve cells. However, more studies are needed in this area. + +Studies have also found links between diverticular disease and obesity, lack of exercise, smoking, and certain medications including nonsteroidal anti-inflammatory drugs, such as aspirin, and steroids.3 + +Scientists agree that with diverticulitis, inflammation may begin when bacteria or stool get caught in a diverticulum. In the colon, inflammation also may be caused by a decrease in healthy bacteria and an increase in disease-causing bacteria. This change in the bacteria may permit chronic inflammation to develop in the colon. + + + +What is fiber? Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation. Constipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. High-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2",NIDDK,Diverticular Disease +What is (are) Diverticular Disease ?,"Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation. + +Constipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. + +High-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2",NIDDK,Diverticular Disease +Who is at risk for Diverticular Disease? ?,"Diverticulosis becomes more common as people age, particularly in people older than age 50.3 Some people with diverticulosis develop diverticulitis, and the number of cases is increasing. Although diverticular disease is generally thought to be a condition found in older adults, it is becoming more common in people younger than age 50, most of whom are male.1",NIDDK,Diverticular Disease +What are the symptoms of Diverticular Disease ?,"People with diverticulitis may have many symptoms, the most common of which is pain in the lower left side of the abdomen. The pain is usually severe and comes on suddenly, though it can also be mild and then worsen over several days. The intensity of the pain can fluctuate. Diverticulitis may also cause + +- fevers and chills - nausea or vomiting - a change in bowel habitsconstipation or diarrhea - diverticular bleeding + +In most cases, people with diverticular bleeding suddenly have a large amount of red or maroon-colored blood in their stool. Diverticular bleeding may also cause + +- weakness - dizziness or light-headedness - abdominal cramping",NIDDK,Diverticular Disease +How to diagnose Diverticular Disease ?,"Diverticulosis + +Health care providers often find diverticulosis during a routine x ray or a colonoscopy, a test used to look inside the rectum and entire colon to screen for colon cancer or polyps or to evaluate the source of rectal bleeding. + +Diverticular Disease + +Based on symptoms and severity of illness, a person may be evaluated and diagnosed by a primary care physician, an emergency department physician, a surgeon, or a gastroenterologista doctor who specializes in digestive diseases. + +The health care provider will ask about the persons health, symptoms, bowel habits, diet, and medications, and will perform a physical exam, which may include a rectal exam. A rectal exam is performed in the health care providers office; anesthesia is not needed. To perform the exam, the health care provider asks the person to bend over a table or lie on one side while holding the knees close to the chest. The health care provider slides a gloved, lubricated finger into the rectum. The exam is used to check for pain, bleeding, or a blockage in the intestine. + +The health care provider may schedule one or more of the following tests: + +- Blood test. A blood test involves drawing a persons blood at a health care providers office, a commercial facility, or a hospital and sending the sample to a lab for analysis. The blood test can show the presence of inflammation or anemiaa condition in which red blood cells are fewer or smaller than normal, which prevents the bodys cells from getting enough oxygen. - Computerized tomography (CT) scan. A CT scan of the colon is the most common test used to diagnose diverticular disease. CT scans use a combination of x rays and computer technology to create three-dimensional (3D) images. For a CT scan, the person may be given a solution to drink and an injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or a hospital by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. CT scans can detect diverticulosis and confirm the diagnosis of diverticulitis. - Lower gastrointestinal (GI) series. A lower GI series is an x-ray exam that is used to look at the large intestine. The test is performed at a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. The health care provider may provide written bowel prep instructions to follow at home before the test. The person may be asked to follow a clear liquid diet for 1 to 3 days before the procedure. A laxative or enema may be used before the test. A laxative is medication that loosens stool and increases bowel movements. An enema involves flushing water or laxative into the rectum using a special squirt bottle. These medications cause diarrhea, so the person should stay close to a bathroom during the bowel prep. - For the test, the person will lie on a table while the radiologist inserts a flexible tube into the persons anus. The colon is filled with barium, making signs of diverticular disease show up more clearly on x rays. - For several days, traces of barium in the large intestine can cause stools to be white or light colored. Enemas and repeated bowel movements may cause anal soreness. A health care provider will provide specific instructions about eating and drinking after the test. - Colonoscopy. The test is performed at a hospital or an outpatient center by a gastroenterologist. Before the test, the persons health care provider will provide written bowel prep instructions to follow at home. The person may need to follow a clear liquid diet for 1 to 3 days before the test. The person may also need to take laxatives and enemas the evening before the test. - In most cases, light anesthesia, and possibly pain medication, helps people relax for the test. The person will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The test can show diverticulosis and diverticular disease. - Cramping or bloating may occur during the first hour after the test. Driving is not permitted for 24 hours after the test to allow the anesthesia time to wear off. Before the appointment, people should make plans for a ride home. Full recovery is expected by the next day, and people should be able to go back to their normal diet.",NIDDK,Diverticular Disease +What are the treatments for Diverticular Disease ?,"A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. Treatment for diverticular disease varies, depending on whether a person has diverticulitis or diverticular bleeding. + +Diverticulosis + +High-fiber diet. Studies have shown that a high-fiber diet can help prevent diverticular disease in people who already have diverticulosis.2 A health care provider may recommend a slow increase in dietary fiber to minimize gas and abdominal discomfort. For more information about fiber-rich foods, see Eating, Diet, and Nutrition. + +Fiber supplements. A health care provider may recommend taking a fiber product such as methylcellulose (Citrucel) or psyllium (Metamucil) one to three times a day. These products are available as powders, pills, or wafers and provide 0.5 to 3.5 grams of fiber per dose. Fiber products should be taken with at least 8 ounces of water. + +Medications. A number of studies suggest the medication mesalazine (Asacol), given either continuously or in cycles, may be effective at reducing abdominal pain and GI symptoms of diverticulosis. Research has also shown that combining mesalazine with the antibiotic rifaximin (Xifaxan) can be significantly more effective than using rifaximin alone to improve a persons symptoms and maintain periods of remission, which means being free of symptoms.4 + +Probiotics. Although more research is needed, probiotics may help treat the symptoms of diverticulosis, prevent the onset of diverticulitis, and reduce the chance of recurrent symptoms. Probiotics are live bacteria, like those normally found in the GI tract. Probiotics can be found in dietary supplementsin capsules, tablets, and powdersand in some foods, such as yogurt. + +To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics. + +Tips for talking with health care providers are available at www.nccam.nih.gov/timetotalk. + +Diverticular Bleeding + +Diverticular bleeding is rare. Bleeding can be severe; however, it may stop by itself and not require treatment. A person who has bleeding from the rectumeven a small amountshould see a health care provider right away. + +To treat the bleeding, a colonoscopy may be performed to identify the location of and stop the bleeding. A CT scan or angiogram also may be used to identify the site of the bleeding. A traditional angiogram is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through a large artery, often from the groin, to the area of bleeding. Contrast medium is injected through the catheter so the artery shows up more clearly on the x ray. The procedure is performed in a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though a sedative may be given to lessen anxiety during the procedure. + +If the bleeding does not stop, abdominal surgery with a colon resection may be necessary. In a colon resection, the surgeon removes the affected part of the colon and joins the remaining ends of the colon together; general anesthesia is used. A blood transfusion may be needed if the person has lost a significant amount of blood. + +Diverticulitis + +Diverticulitis with mild symptoms and no complications usually requires a person to rest, take oral antibiotics, and be on a liquid diet for a period of time. If symptoms ease after a few days, the health care provider will recommend gradually adding solid foods back into the diet. + +Severe cases of diverticulitis with acute pain and complications will likely require a hospital stay. Most cases of severe diverticulitis are treated with intravenous (IV) antibiotics and a few days without food or drink to help the colon rest. If the period without food or drink is longer, the person may be given parenteral nutritiona method of providing an IV liquid food mixture through a special tube in the chest. The mixture contains proteins, carbohydrates, fats, vitamins, and minerals.",NIDDK,Diverticular Disease +What are the treatments for Diverticular Disease ?,"Diverticulitis can attack suddenly and cause complications, such as + +- an abscessa painful, swollen, pus-filled area just outside the colon wallcaused by infection - a perforationa small tear or hole in the diverticula - peritonitisinflammation of tissues inside the abdomen from pus and stool that leak through a perforation - a fistulaan abnormal passage, or tunnel, between two organs, or between an organ and the outside of the body - intestinal obstructionpartial or total blockage of movement of food or stool through the intestines + +These complications need to be treated to prevent them from getting worse and causing serious illness. In some cases, surgery may be needed. + +Abscess, perforation, and peritonitis. Antibiotic treatment of diverticulitis usually prevents or treats an abscess. If the abscess is large or does not clear up with antibiotics, it may need to be drained. After giving the person numbing medication, a radiologist inserts a needle through the skin to the abscess and then drains the fluid through a catheter. The procedure is usually guided by an abdominal ultrasound or a CT scan. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. + +A person with a perforation usually needs surgery to repair the tear or hole. Sometimes, a person needs surgery to remove a small part of the intestine if the perforation cannot be repaired. + +A person with peritonitis may be extremely ill, with nausea, vomiting, fever, and severe abdominal tenderness. This condition requires immediate surgery to clean the abdominal cavity and possibly a colon resection at a later date after a course of antibiotics. A blood transfusion may be needed if the person has lost a significant amount of blood. Without prompt treatment, peritonitis can be fatal. + +Fistula. Diverticulitis-related infection may lead to one or more fistulas. Fistulas usually form between the colon and the bladder, small intestine, or skin. The most common type of fistula occurs between the colon and the bladder. Fistulas can be corrected with a colon resection and removal of the fistula. + +Intestinal obstruction. Diverticulitis-related inflammation or scarring caused by past inflammation may lead to intestinal obstruction. If the intestine is completely blocked, emergency surgery is necessary, with possible colon resection. Partial blockage is not an emergency, so the surgery or other procedures to correct it can be scheduled. + +When urgent surgery with colon resection is necessary for diverticulitis, two procedures may be needed because it is not safe to rejoin the colon right away. During the colon resection, the surgeon performs a temporary colostomy, creating an opening, or stoma, in the abdomen. The end of the colon is connected to the opening to allow normal eating while healing occurs. Stool is collected in a pouch attached to the stoma on the abdominal wall. In the second surgery, several months later, the surgeon rejoins the ends of the colon and closes the stoma.",NIDDK,Diverticular Disease +What to do for Diverticular Disease ?,"The Dietary Guidelines for Americans, 2010, recommends a dietary fiber intake of 14 grams per 1,000 calories consumed. For instance, for a 2,000-calorie diet, the fiber recommendation is 28 grams per day. The amount of fiber in a food is listed on the foods nutrition facts label. Some of the best sources of fiber include fruits; vegetables, particularly starchy ones; and whole grains. A health care provider or dietitian can help a person learn how to add more high-fiber foods into the diet. + +Fiber-rich Foods Beans, cereals, and breads Amount of fiber 1/2 cup of navy beans 9.5 grams 1/2 cup of kidney beans 8.2 grams 1/2 cup of black beans 7.5 grams Whole-grain cereal, cold 1/2 cup of All-Bran 9.6 grams 3/4 cup of Total 2.4 grams 3/4 cup of Post Bran Flakes 5.3 grams 1 packet of whole-grain cereal, hot (oatmeal, Wheatena) 3.0 grams 1 whole-wheat English muffin 4.4 grams Fruits 1 medium apple, with skin 3.3 grams 1 medium pear, with skin 4.3 grams 1/2 cup of raspberries 4.0 grams 1/2 cup of stewed prunes 3.8 grams Vegetables 1/2 cup of winter squash 2.9 grams 1 medium sweet potato, with skin 4.8 grams 1/2 cup of green peas 4.4 grams 1 medium potato, with skin 3.8 grams 1/2 cup of mixed vegetables 4.0 grams 1 cup of cauliflower 2.5 grams 1/2 cup of spinach 3.5 grams 1/2 cup of turnip greens 2.5 grams + +Scientists now believe that people with diverticular disease do not need to eliminate certain foods from their diet. In the past, health care providers recommended that people with diverticular disease avoid nuts, popcorn, and sunflower, pumpkin, caraway, and sesame seeds because they thought food particles could enter, block, or irritate the diverticula. However, recent data suggest that these foods are not harmful.5 The seeds in tomatoes, zucchini, cucumbers, strawberries, and raspberries, as well as poppy seeds, are also fine to eat. Nonetheless, people with diverticular disease may differ in the amounts and types of foods that worsen their symptoms.",NIDDK,Diverticular Disease +What to do for Diverticular Disease ?,"- Diverticular disease is a condition that occurs when a person has problems from small pouches, or sacs, that have formed and pushed outward through weak spots in the colon wall. The problems that occur with diverticular disease include diverticulitis and diverticular bleeding. - When a person has diverticula that do not cause diverticulitis or diverticular bleeding, the condition is called diverticulosis. - Scientists are not certain what causes diverticulosis and diverticular disease. - Although diverticular disease is generally thought to be a condition found in older adults, it is becoming more common in people younger than age 50, most of whom are male. - Health care providers often find diverticulosis during a routine x ray or a colonoscopy, a test used to look inside the rectum and entire colon to screen for colon cancer or polyps or to evaluate the source of rectal bleeding. - To diagnose diverticular disease, a health care provider may schedule one or more of the following tests: blood test; computerized tomography (CT) scan; lower gastrointestinal (GI) series; colonoscopy. - A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. - Diverticular bleeding is rare. Bleeding can be severe; however, it may stop by itself and not require treatment. If the bleeding does not stop, abdominal surgery with a colon resection may be necessary. - Diverticulitis with mild symptoms and no complications usually requires a person to rest, take oral antibiotics, and be on a liquid diet for a period of time. - Diverticulitis can attack suddenly and cause complications, such as an abscess, a perforation, peritonitis, a fistula, or intestinal obstruction. These complications need to be treated to prevent them from getting worse and causing serious illness.",NIDDK,Diverticular Disease +What is (are) Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"Microscopic colitis is an inflammation of the colon that a health care provider can see only with a microscope. Inflammation is the bodys normal response to injury, irritation, or infection of tissues. Microscopic colitis is a type of inflammatory bowel diseasethe general name for diseases that cause irritation and inflammation in the intestines. + +The two types of microscopic colitis are collagenous colitis and lymphocytic colitis. Health care providers often use the term microscopic colitis to describe both types because their symptoms and treatments are the same. Some scientists believe that collagenous colitis and lymphocytic colitis may be different phases of the same condition rather than separate conditions. + +In both types of microscopic colitis, an increase in the number of lymphocytes, a type of white blood cell, can be seen in the epitheliumthe layer of cells that lines the colon. An increase in the number of white blood cells is a sign of inflammation. The two types of colitis affect the colon tissue in slightly different ways: + +- Lymphocytic colitis. The number of lymphocytes is higher, and the tissues and lining of the colon are of normal thickness. - Collagenous colitis. The layer of collagen, a threadlike protein, underneath the epithelium builds up and becomes thicker than normal. + +When looking through a microscope, the health care provider may find variations in lymphocyte numbers and collagen thickness in different parts of the colon. These variations may indicate an overlap of the two types of microscopic colitis.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What is (are) Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"The colon is part of the gastrointestinal (GI) tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. Organs that make up the GI tract are the + +- mouth - esophagus - stomach - small intestine - large intestine - anus + +The first part of the GI tract, called the upper GI tract, includes the mouth, esophagus, stomach, and small intestine. The last part of the GI tract, called the lower GI tract, consists of the large intestine and anus. The intestines are sometimes called the bowel. + +The large intestine is about 5 feet long in adults and includes the colon and rectum. The large intestine changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is 6 to 8 inches long in adults and is between the last part of the coloncalled the sigmoid colonand the anus. During a bowel movement, stool moves from the rectum to the anus and out of the body.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What causes Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"The exact cause of microscopic colitis is unknown. Several factors may play a role in causing microscopic colitis. However, most scientists believe that microscopic colitis results from an abnormal immune-system response to bacteria that normally live in the colon. Scientists have proposed other causes, including + +- autoimmune diseases - medications - infections - genetic factors - bile acid malabsorption + +Autoimmune Diseases + +Sometimes people with microscopic colitis also have autoimmune diseasesdisorders in which the bodys immune system attacks the bodys own cells and organs. Autoimmune diseases associated with microscopic colitis include + +- celiac diseasea condition in which people cannot tolerate gluten because it damages the lining of the small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley. - thyroid diseases such as - Hashimotos diseasea form of chronic, or long lasting, inflammation of the thyroid. - Graves diseasea disease that causes hyperthyroidism. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. - rheumatoid arthritisa disease that causes pain, swelling, stiffness, and loss of function in the joints when the immune system attacks the membrane lining the joints. - psoriasisa skin disease that causes thick, red skin with flaky, silver-white patches called scales. + +More information is provided in the NIDDK health topics: + +- Celiac Disease - Hashimotos Disease - Graves Disease + +Medications + +Researchers have not found that medications cause microscopic colitis. However, they have found links between microscopic colitis and certain medications, most commonly + +- nonsteroidal anti-inflammatory drugs such as aspirin, ibuprofen, and naproxen - lansoprazole (Prevacid) - acarbose (Prandase, Precose) - ranitidine (Tritec, Zantac) - sertraline (Zoloft) - ticlopidine (Ticlid) + +Other medications linked to microscopic colitis include + +- carbamazepine - clozapine (Clozaril, FazaClo) - dexlansoprazole (Kapidex, Dexilant) - entacapone (Comtan) - esomeprazole (Nexium) - flutamide (Eulexin) - lisinopril (Prinivil, Zestril) - omeprazole (Prilosec) - pantoprazole (Protonix) - paroxetine (Paxil, Pexeva) - rabeprazole (AcipHex) - simvastatin (Zocor) - vinorelbine (Navelbine) + +Infections + +Bacteria. Some people get microscopic colitis after an infection with certain harmful bacteria. Harmful bacteria may produce toxins that irritate the lining of the colon. + +Viruses. Some scientists believe that viral infections that cause inflammation in the GI tract may play a role in causing microscopic colitis. + +Genetic Factors + +Some scientists believe that genetic factors may play a role in microscopic colitis. Although researchers have not yet found a gene unique to microscopic colitis, scientists have linked dozens of genes to other types of inflammatory bowel disease, including + +- Crohns diseasea disorder that causes inflammation and irritation of any part of the GI tract - ulcerative colitisa chronic disease that causes inflammation and ulcers in the inner lining of the large intestine + +More information is provided in the NIDDK health topics: + +- Crohns Disease - Ulcerative Colitis + +Bile Acid Malabsorption + +Some scientists believe that bile acid malabsorption plays a role in microscopic colitis. Bile acid malabsorption is the intestines inability to completely reabsorb bile acidsacids made by the liver that work with bile to break down fats. Bile is a fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats. Bile acids that reach the colon can lead to diarrhea.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What are the symptoms of Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. Episodes of diarrhea can last for weeks, months, or even years. However, many people with microscopic colitis may have long periods without diarrhea. Other signs and symptoms of microscopic colitis can include + +- a strong urgency to have a bowel movement or a need to go to the bathroom quickly - pain, cramping, or bloating in the abdomenthe area between the chest and the hipsthat is usually mild - weight loss - fecal incontinenceaccidental passing of stool or fluid from the rectumespecially at night - nausea - dehydrationa condition that results from not taking in enough liquids to replace fluids lost through diarrhea + +The symptoms of microscopic colitis can come and go frequently. Sometimes, the symptoms go away without treatment.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +How to diagnose Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"A pathologista doctor who specializes in examining tissues to diagnose diseasesdiagnoses microscopic colitis based on the findings of multiple biopsies taken throughout the colon. Biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. The pathologist examines the colon tissue samples in a lab. Many patients can have both lymphocytic colitis and collagenous colitis in different parts of their colon. + +To help diagnose microscopic colitis, a gastroenterologista doctor who specializes in digestive diseasesbegins with + +- a medical and family history - a physical exam + +The gastroenterologist may perform a series of medical tests to rule out other bowel diseasessuch as irritable bowel syndrome, celiac disease, Crohns disease, ulcerative colitis, and infectious colitisthat cause symptoms similar to those of microscopic colitis. These medical tests include + +- lab tests - imaging tests of the intestines - endoscopy of the intestines + +Medical and Family History + +The gastroenterologist will ask the patient to provide a medical and family history, a review of the symptoms, a description of eating habits, and a list of prescription and over-the-counter medications in order to help diagnose microscopic colitis. The gastroenterologist will also ask the patient about current and past medical conditions. + +Physical Exam + +A physical exam may help diagnose microscopic colitis and rule out other diseases. During a physical exam, the gastroenterologist usually + +- examines the patients body - taps on specific areas of the patients abdomen + +Lab Tests + +Lab tests may include + +- blood tests - stool tests + +Blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may use blood tests to help look for changes in red and white blood cell counts. + +- Red blood cells. When red blood cells are fewer or smaller than normal, a person may have anemiaa condition that prevents the bodys cells from getting enough oxygen. - White blood cells. When the white blood cell count is higher than normal, a person may have inflammation or infection somewhere in the body. + +Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool. The patient returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Health care providers commonly order stool tests to rule out other causes of GI diseases, such as different types of infectionsincluding bacteria or parasitesor bleeding, and help determine the cause of symptoms. + +Imaging Tests of the Intestines + +Imaging tests of the intestines may include the following: + +- computerized tomography (CT) scan - magnetic resonance imaging (MRI) - upper GI series + +Specially trained technicians perform these tests at an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. A patient does not need anesthesia. Health care providers use imaging tests to show physical abnormalities and to diagnose certain bowel diseases, in some cases. + +CT scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. + +MRI. MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. Although a patient does not need anesthesia for an MRI, some patients with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include a solution to drink and injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images to create a detailed picture of the intestines. During sequencing, the patient will hear loud mechanical knocking and humming noises. + +Upper GI series. This test is an x-ray exam that provides a look at the shape of the upper GI tract. A patient should not eat or drink before the procedure, as directed by the health care provider. Patients should ask their health care provider about how to prepare for an upper GI series. During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the upper GI tract so the radiologist and gastroenterologist can see the organs shapes more clearly on x rays. A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. More information is provided in the NIDDK health topic, Upper GI Series. + +Endoscopy of the Intestines + +Endoscopy of the intestines may include + +- colonoscopy with biopsy - flexible sigmoidoscopy with biopsy - upper GI endoscopy with biopsy + +A gastroenterologist performs these tests at a hospital or an outpatient center. + +Colonoscopy with biopsy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside the rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patients vital signs and try to make him or her as comfortable as possible. A nurse or technician places an intravenous (IV) needle in a vein in the arm or hand to give anesthesia. + +For the test, the patient will lie on a table while the gastroenterologist inserts a colonoscope into the anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a computer screen, allowing the gastroenterologist to carefully examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again. A colonoscopy can show irritated and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the lining of the intestine. If the lining of the rectum and colon appears normal, the gastroenterologist may suspect microscopic colitis and will biopsy multiple areas of the colon. + +A health care provider will provide written bowel prep instructions to follow at home before the test. The health care provider will also explain what the patient can expect after the test and give discharge instructions. + +Flexible sigmoidoscopy with biopsy. Flexible sigmoidoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called a sigmoidoscope or scope, to look inside the rectum and the sigmoid colon. A patient does not usually need anesthesia. + +For the test, the patient will lie on a table while the gastroenterologist inserts the sigmoidoscope into the anus and slowly guides it through the rectum and into the sigmoid colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a computer screen, allowing the gastroenterologist to carefully examine the tissues lining the sigmoid colon and rectum. The gastroenterologist may ask the patient to move several times and adjust the scope for better viewing. Once the scope reaches the end of the sigmoid colon, the gastroenterologist slowly withdraws it while carefully examining the lining of the sigmoid colon and rectum again. + +The gastroenterologist will look for signs of bowel diseases and conditions such as irritated and swollen tissue, ulcers, and polyps. If the lining of the rectum and colon appears normal, the gastroenterologist may suspect microscopic colitis and will biopsy multiple areas of the colon. + +A health care provider will provide written bowel prep instructions to follow at home before the test. The health care provider will also explain what the patient can expect after the test and give discharge instructions. + +Upper GI endoscopy with biopsy. Upper GI endoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called an endoscope or a scope, to look inside the upper GI tract. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and first part of the small intestine, called the duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patients throat. A health care provider will place an IV needle in a vein in the arm or hand to administer sedation. Sedatives help patients stay relaxed and comfortable. This test can show blockages or other conditions in the upper small intestine. A gastroenterologist may biopsy the lining of the small intestine during an upper GI endoscopy.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What are the treatments for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"Treatment depends on the severity of symptoms. The gastroenterologist will + +- review the medications the person is taking - make recommendations to change or stop certain medications - recommend that the person quit smoking + +The gastroenterologist may prescribe medications to help control symptoms. Medications are almost always effective in treating microscopic colitis. The gastroenterologist may recommend eating, diet, and nutrition changes. In rare cases, the gastroenterologist may recommend surgery. + +Medications + +The gastroenterologist may prescribe one or more of the following: + +- antidiarrheal medications such as bismuth subsalicylate (Kaopectate, Pepto-Bismol), diphenoxylate/atropine (Lomotil), and loperamide - corticosteroids such as budesonide (Entocort) and prednisone - anti-inflammatory medications such as mesalamine and sulfasalazine (Azulfidine) - cholestyramine resin (Locholest, Questran)a medication that blocks bile acids - antibiotics such as metronidazole (Flagyl) and erythromycin - immunomodulators such as mercaptopurine (Purinethol), azathioprine (Azasan, Imuran), and methotrexate (Rheumatrex, Trexall) - anti-TNF therapies such as infliximab (Remicade) and adalimumab (Humira) + +Corticosteroids are medications that decrease inflammation and reduce the activity of the immune system. These medications can have many side effects. Scientists have shown that budesonide is safer, with fewer side effects, than prednisone. Most health care providers consider budesonide the best medication for treating microscopic colitis. + +Patients with microscopic colitis generally achieve relief through treatment with medications, although relapses can occur. Some patients may need long-term treatment if they continue to have relapses.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"To help reduce symptoms, a health care provider may recommend the following dietary changes: + +- avoid foods and drinks that contain caffeine or artificial sugars - drink plenty of liquids to prevent dehydration during episodes of diarrhea - eat a milk-free diet if the person is also lactose intolerant - eat a gluten-free diet + +People should talk with their health care provider or dietitian about what type of diet is right for them. + +Surgery + +When the symptoms of microscopic colitis are severe and medications arent effective, a gastroenterologist may recommend surgery to remove the colon. Surgery is a rare treatment for microscopic colitis. The gastroenterologist will exclude other causes of symptoms before considering surgery.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +How to prevent Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"Researchers do not know how to prevent microscopic colitis. However, researchers do believe that people who follow the recommendations of their health care provider may be able to prevent relapses of microscopic colitis.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +Who is at risk for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis? ?,"No. Unlike the other inflammatory bowel diseases, such as Crohns disease and ulcerative colitis, microscopic colitis does not increase a persons risk of getting colon cancer.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"- Microscopic colitis is an inflammation of the colon that a health care provider can see only with a microscope. - The two types of microscopic colitis are collagenous colitis and lymphocytic colitis. - The exact cause of microscopic colitis is unknown. - Microscopic colitis is most common in females age 50 years or older. - The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. - A pathologista doctor who specializes in diagnosing diseasesdiagnoses microscopic colitis based on the findings of multiple biopsies taken throughout the colon. - Treatment depends on the severity of symptoms. - The gastroenterologist may prescribe medications to help control symptoms. - Medications are almost always effective in treating microscopic colitis. - The gastroenterologist may recommend eating, diet, and nutrition changes.",NIDDK,Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis +What is (are) Cyclic Vomiting Syndrome ?,"Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. The episodes can last from a few hours to several days. Episodes can be so severe that a person has to stay in bed for days, unable to go to school or work. A person may need treatment at an emergency room or a hospital during episodes. After an episode, a person usually experiences symptom-free periods lasting a few weeks to several months. To people who have the disorder, as well as their family members and friends, cyclic vomiting syndrome can be disruptive and frightening. + +The disorder can affect a person for months, years, or decades. Each episode of cyclic vomiting syndrome is usually similar to previous ones, meaning that episodes tend to start at the same time of day, last the same length of time, and occur with the same symptoms and level of intensity.",NIDDK,Cyclic Vomiting Syndrome +What is (are) Cyclic Vomiting Syndrome ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Cyclic vomiting syndrome affects the upper GI tract, which includes the mouth, esophagus, stomach, small intestine, and duodenum, the first part of the small intestine. The esophagus is the muscular tube that carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids through the duodenum and into the rest of the small intestine, which absorbs nutrients from food particles. This process is automatic and people are usually not aware of it, though people sometimes feel food in their esophagus when they swallow something too large, try to eat too quickly, or drink hot or cold liquids.",NIDDK,Cyclic Vomiting Syndrome +What causes Cyclic Vomiting Syndrome ?,"The cause of cyclic vomiting syndrome is unknown. However, some experts believe that some possible problems with bodily functions may contribute to the cause, such as the following: + +- gastrointestinal motilitythe way food moves through the digestive system - central nervous system functionincludes the brain, spinal cord, and nerves that control bodily responses - autonomic nervous system functionnerves that control internal organs such as the heart - hormone imbalanceshormones are a chemical produced in one part of the body and released into the blood to trigger or regulate particular bodily functions - in children, an abnormal inherited gene may also contribute to the condition + +Specific conditions or events may trigger an episode of cyclic vomiting: + +- emotional stress, anxiety, or panic attacksfor example, in children, common triggers of anticipatory anxiety are school exams or events, birthday parties, holidays, family conflicts, or travel - infections, such as a sinus infection, a respiratory infection, or the flu - eating certain foods, such as chocolate or cheese, or additives such as caffeine, nitritescommonly found in cured meats such as hot dogsand monosodium glutamate, also called MSG - hot weather - menstrual periods - motion sickness - overeating, fasting, or eating right before bedtime - physical exhaustion or too much exercise",NIDDK,Cyclic Vomiting Syndrome +How many people are affected by Cyclic Vomiting Syndrome ?,"Cyclic vomiting syndrome is more common in children than adults, although reports of the syndrome in adults have increased in recent years.1 Usually, children are about 5 years old when diagnosed with cyclic vomiting syndrome, which occurs in every three out of 100,000 children.2",NIDDK,Cyclic Vomiting Syndrome +What are the symptoms of Cyclic Vomiting Syndrome ?,"The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms: + +- retching, or making an attempt to vomit - heaving or gagging - lack of appetite - abdominal pain - diarrhea - fever - dizziness - headache - sensitivity to light + +Intensity of symptoms will vary as a person cycles through four distinct phases of an episode: + +- Prodrome phase. During the prodrome phase, the person feels that an episode of nausea and vomiting is about to start. Often marked by intense sweating and nauseawith or without abdominal painthis phase can last from a few minutes to several hours. The person may appear unusually pale. - Vomiting phase. This phase consists of intense nausea, vomiting, and retching. Periods of vomiting and retching can last 20 to 30 minutes at a time. The person may be subdued and responsive, immobile and unresponsive, or writhing and moaning with intense abdominal pain. An episode can last from hours to days. - Recovery phase. This phase begins when the vomiting and retching stop and the nausea subsides. Improvement of symptoms during the recovery phase can vary. Healthy color, appetite, and energy return gradually or right away. - Well phase. This phase occurs between episodes when no symptoms are present.",NIDDK,Cyclic Vomiting Syndrome +What are the complications of Cyclic Vomiting Syndrome ?,"The severe vomiting and retching that define cyclic vomiting syndrome increase the chance of developing several complications, including dehydration, esophagitis, a Mallory-Weiss tear, and tooth decay. + +- Dehydration may occur when a person does not replace fluids that were lost because of vomiting and diarrhea. When dehydrated, the body lacks enough fluid and electrolytesminerals in salts, including sodium, potassium, and chlorideto function properly. Severe dehydration may require intravenous (IV) fluids and hospitalization. - Esophagitisinflammation or irritation of the esophaguscan result from the stomach acid that exits through the esophagus during vomiting. - A Mallory-Weiss teara tear in the lower end of the esophagusis caused by severe vomiting. A person with bloody vomit and stool should see a health care provider right away. - Tooth decay or corroding tooth enamel is damage caused by stomach acid. + + + +Seek Help for Signs or Symptoms of Severe Dehydration People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin Infants, children, older adults, and people with weak immune systems have the greatest chance of becoming dehydrated. People should watch for the following signs and symptoms of dehydration in infants, young children, and people who are unable to communicate their symptoms: - dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever If left untreated, severe dehydration can cause serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.",NIDDK,Cyclic Vomiting Syndrome +What are the symptoms of Cyclic Vomiting Syndrome ?,"People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: + +- excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin + +Infants, children, older adults, and people with weak immune systems have the greatest chance of becoming dehydrated. People should watch for the following signs and symptoms of dehydration in infants, young children, and people who are unable to communicate their symptoms: + +- dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever + +If left untreated, severe dehydration can cause serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.",NIDDK,Cyclic Vomiting Syndrome +How to diagnose Cyclic Vomiting Syndrome ?,"A specific test to diagnose cyclic vomiting syndrome does not exist; instead, a health care provider will rule out other conditions and diagnose the syndrome based upon + +- a medical and family history - a physical exam - a pattern or cycle of symptoms - blood tests - urine tests - imaging tests - upper GI endoscopy - a gastric emptying test + +Often, it is suspected that one of the following is causing their symptoms: + +- gastroparesisa disorder that slows or stops the movement of food from the stomach to the small intestine - gastroenteritisinflammation of the lining of the stomach, small intestine, and large intestine + +A diagnosis of cyclic vomiting syndrome may be difficult to make until the person sees a health care provider. A health care provider will suspect cyclic vomiting syndrome if the person suffers from repeat episodes of vomiting. + +Medical and Family History + +Taking a medical and family history is one of the first things a health care provider may do to help diagnose cyclic vomiting syndrome. He or she will ask the patient to provide a medical and family history. + +Physical Exam + +A physical exam may help diagnose other conditions besides cyclic vomiting syndrome. During a physical exam, a health care provider usually + +- examines a patients body - taps on specific areas of the patients body + +Pattern or Cycle of Symptoms in Children3 + +A health care provider will often suspect cyclic vomiting syndrome in a child when the child + +- has at least five separate episodes, or at least three separate episodes over 6 months - has episodes of intense nausea and vomiting lasting 1 hour to 10 days and occurring at least 1 week apart - has episodes that are similar to previous onesthey tend to start at the same time of day, last the same length of time, and occur with the same symptoms and level of intensity - vomits during episodes at least four times per hour for at least 1 hour - vomits and it is not attributed to another disorder - has absence of nausea and vomiting between episodes + +Pattern or Cycle of Symptoms in Adults4,5 + +A health care provider will often suspect cyclic vomiting syndrome in adults when the following is present for at least 3 months and the symptoms started more than 6 months ago: + +- Each episode of cyclic vomiting syndrome is usually similar to previous ones, meaning that episodes tend to start at the same time of day and last the same length of timeless than 1 week. - Three or more separate episodes in the past year. - Absence of nausea or vomiting between episodes. + +Blood Tests + +A nurse or technician will draw blood samples at a health care providers office or a commercial facility and send the samples to a lab for analysis. The blood test can tell the health care provider if the patient has any signs of dehydration or other problems. + +Urine Tests + +Urinalysis involves testing a urine sample. The patient collects a urine sample in a special container in a health care providers office or a commercial facility. A health care provider tests the sample in the same location or sends the sample to a lab for analysis. A urinalysis can rule out kidney problems or an infection. + +Imaging Tests + +The health care provider decides which test to order based on the symptoms, medical history, and physical exam. + +Upper GI series. A health care provider may order an upper GI series to look at the upper GI tract. A radiologista doctor who specializes in medical imagingperforms this test at a hospital or an outpatient center. This test does not require anesthesia. The patient should not eat or drink for 8 hours before the procedure, if possible. During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Infants lie on a table and a health care provider gives them barium through a tiny tube placed in the nose that runs into the stomach. Barium coats the GI tract, making signs of obstruction or other problems that can cause vomiting show up more clearly on x rays. A patient may experience bloating and nausea for a short time after the test. The upper GI series can show other problems that may be causing symptoms, such as an ulcer or obstruction. + +Abdominal ultrasound. A health care provider may order an ultrasound to look at the organs in the abdomen. A technician uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The technician performs the procedure in a health care providers office, an outpatient center, or a hospital. A radiologist interprets the images. A patient does not need anesthesia. The abdominal ultrasound can show other problems that may be causing symptoms, such as gallstones. + +Upper Gastrointestinal Endoscopy + +This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patients throat. A nurse or technician will place an IV needle in a vein in the arm to administer sedation or anesthesia. Sedatives or anesthesia help a patient stay relaxed and comfortable. The gastroenterologist carefully inserts the endoscope into the mouth and feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. The upper GI endoscopy can show other problems that may be causing symptoms, such as an ulcer. A gastroenterologist may obtain a biopsya procedure that involves taking a small piece of tissue for examination with a microscopeof the small-intestinal lining during an upper GI endoscopy. The patient will not feel the biopsy. + +Gastric Emptying Test + +Also called gastric emptying scintigraphy, this test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs the test in a radiology center or hospital, and a radiologist interprets the results; the patient does not need anesthesia. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal.",NIDDK,Cyclic Vomiting Syndrome +What are the treatments for Cyclic Vomiting Syndrome ?,"A health care provider may refer patients to a gastroenterologist for treatment. + +People with cyclic vomiting syndrome should get plenty of rest and take medications to prevent a vomiting episode, stop an episode in progress, speed up recovery, or relieve associated symptoms. + +The health care team tailors treatment to the symptoms experienced during each of the four cyclic vomiting syndrome phases: + +- Prodrome phase treatment. The goal during the prodrome phase is to stop an episode before it progresses. Taking medication early in the phase can help stop an episode from moving to the vomiting phase or becoming severe; however, people do not always realize an episode is coming. For example, a person may wake up in the morning and begin vomiting. A health care provider may recommend the following medications for both children and adults: - ondansetron (Zofran) or lorazepam (Ativan) for nausea - ibuprofen for abdominal pain - ranitidine (Zantac), lansoprazole (Prevacid), or omeprazole (Prilosec, Zegerid) to control stomach acid production - sumatriptan (Imitrex)prescribed as a nasal spray, an injection, or a pill that dissolves under the tonguefor migraines - Vomiting phase treatment. Once vomiting begins, people should call or see a health care provider as soon as possible. Treatment usually requires the person to stay in bed and sleep in a dark, quiet room. A health care provider may recommend the following for both children and adults: - medication for pain, nausea, and reducing stomach acid and anxiety - anti-migraine medications such as sumatriptan to stop symptoms of a migraine or possibly stop an episode in progress - hospitalization for severe nausea and vomiting - IV fluids and medications to prevent dehydration and treat symptoms - IV nutrition if an episode continues for several days - Recovery phase treatment. During the recovery phase, drinking and eating will replace lost electrolytes. A person may need IV fluids for a period of time. Some people find their appetite returns to normal right away, while others start by drinking clear liquids and then moving slowly to other liquids and solid food. A health care provider may prescribe medications during the recovery phase and well phase to prevent future episodes. - Well phase treatment. During the well phase, a health care provider may use medications to treat people whose episodes are frequent and long lasting in an effort to prevent or ease future episodes. A person may need to take a medication daily for 1 to 2 months before evaluating whether it helps prevent episodes. A health care provider may prescribe the following medications for both children and adults during the well phase to prevent cyclic vomiting syndrome episodes, lessen their severity, and reduce their frequency: - amitriptyline (Elavil) - propranolol (Inderal) - cyproheptadine (Periactin)",NIDDK,Cyclic Vomiting Syndrome +How to prevent Cyclic Vomiting Syndrome ?,"A person should stay away from known triggers, especially during the well phase, as well as + +- get adequate sleep to prevent exhaustion - treat sinus problems or allergies - seek help on reducing stress and anxiety - avoid foods that trigger episodes or foods with additives + +A health care provider may refer people with cyclic vomiting syndrome and anxiety to a stress management specialist for relaxation therapy or other treatments. + +A health care provider may prescribe medications to prevent migraines for people with cyclic vomiting syndrome.",NIDDK,Cyclic Vomiting Syndrome +What to do for Cyclic Vomiting Syndrome ?,"During the prodrome and vomiting phases of cyclic vomiting syndrome, a person will generally take in little or no nutrition by mouth. During the recovery phase, the person may be quite hungry as soon as the vomiting stops. As eating resumes, a person or his or her family should watch for the return of nausea. In some cases, a person can start with clear liquids and proceed slowly to a regular diet. + +During the well phase, a balanced diet and regular meals are important. People should avoid any trigger foods and foods with additives. Eating small, carbohydrate-containing snacks between meals, before exercise, and at bedtime may help prevent future attacks. A health care provider will assist with planning a return to a regular diet.",NIDDK,Cyclic Vomiting Syndrome +What to do for Cyclic Vomiting Syndrome ?,"- Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. - The disorder can affect a person for months, years, or decades. - The cause of cyclic vomiting syndrome is unknown. - The severe vomiting and retching that define cyclic vomiting syndrome increase the chance of developing several complications, including dehydration, esophagitis, a Mallory-Weiss tear, and tooth decay. - Intensity of symptoms will vary as a person cycles through four distinct phases of an episode. - The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. - People with cyclic vomiting syndrome should get plenty of rest and take medications to prevent a vomiting episode, stop an episode in progress, speed up recovery, or relieve associated symptoms. - During the well phase, a balanced diet and regular meals are important. A health care provider will assist with planning a return to a regular diet.",NIDDK,Cyclic Vomiting Syndrome +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Diabetic neuropathies are a family of nerve disorders caused by diabetes. People with diabetes can, over time, develop nerve damage throughout the body. Some people with nerve damage have no symptoms. Others may have symptoms such as pain, tingling, or numbnessloss of feelingin the hands, arms, feet, and legs. Nerve problems can occur in every organ system, including the digestive tract, heart, and sex organs. + +About 60 to 70 percent of people with diabetes have some form of neuropathy. People with diabetes can develop nerve problems at any time, but risk rises with age and longer duration of diabetes. The highest rates of neuropathy are among people who have had diabetes for at least 25 years. Diabetic neuropathies also appear to be more common in people who have problems controlling their blood glucose, also called blood sugar, as well as those with high levels of blood fat and blood pressure and those who are overweight.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What causes Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"The causes are probably different for different types of diabetic neuropathy. Researchers are studying how prolonged exposure to high blood glucose causes nerve damage. Nerve damage is likely due to a combination of factors: + +- metabolic factors, such as high blood glucose, long duration of diabetes, abnormal blood fat levels, and possibly low levels of insulin - neurovascular factors, leading to damage to the blood vessels that carry oxygen and nutrients to nerves - autoimmune factors that cause inflammation in nerves - mechanical injury to nerves, such as carpal tunnel syndrome - inherited traits that increase susceptibility to nerve disease - lifestyle factors, such as smoking or alcohol use",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What are the symptoms of Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Symptoms depend on the type of neuropathy and which nerves are affected. Some people with nerve damage have no symptoms at all. For others, the first symptom is often numbness, tingling, or pain in the feet. Symptoms are often minor at first, and because most nerve damage occurs over several years, mild cases may go unnoticed for a long time. Symptoms can involve the sensory, motor, and autonomicor involuntarynervous systems. In some people, mainly those with focal neuropathy, the onset of pain may be sudden and severe. + +Symptoms of nerve damage may include + +- numbness, tingling, or pain in the toes, feet, legs, hands, arms, and fingers - wasting of the muscles of the feet or hands - indigestion, nausea, or vomiting - diarrhea or constipation - dizziness or faintness due to a drop in blood pressure after standing or sitting up - problems with urination - erectile dysfunction in men or vaginal dryness in women - weakness + +Symptoms that are not due to neuropathy, but often accompany it, include weight loss and depression.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Diabetic neuropathy can be classified as peripheral, autonomic, proximal, or focal. Each affects different parts of the body in various ways. + +- Peripheral neuropathy, the most common type of diabetic neuropathy, causes pain or loss of feeling in the toes, feet, legs, hands, and arms. - Autonomic neuropathy causes changes in digestion, bowel and bladder function, sexual response, and perspiration. It can also affect the nerves that serve the heart and control blood pressure, as well as nerves in the lungs and eyes. Autonomic neuropathy can also cause hypoglycemia unawareness, a condition in which people no longer experience the warning symptoms of low blood glucose levels. - Proximal neuropathy causes pain in the thighs, hips, or buttocks and leads to weakness in the legs. - Focal neuropathy results in the sudden weakness of one nerve or a group of nerves, causing muscle weakness or pain. Any nerve in the body can be affected. + + + +Neuropathy Affects Nerves Throughout the Body Peripheral neuropathy affects - toes - feet - legs - hands - arms Autonomic neuropathy affects - heart and blood vessels - digestive system - urinary tract - sex organs - sweat glands - eyes - lungs Proximal neuropathy affects - thighs - hips - buttocks - legs Focal neuropathy affects - eyes - facial muscles - ears - pelvis and lower back - chest - abdomen - thighs - legs - feet",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Peripheral neuropathy, also called distal symmetric neuropathy or sensorimotor neuropathy, is nerve damage in the arms and legs. Feet and legs are likely to be affected before hands and arms. Many people with diabetes have signs of neuropathy that a doctor could note but feel no symptoms themselves. Symptoms of peripheral neuropathy may include + +- numbness or insensitivity to pain or temperature - a tingling, burning, or prickling sensation - sharp pains or cramps - extreme sensitivity to touch, even light touch - loss of balance and coordination + +These symptoms are often worse at night. + +Peripheral neuropathy may also cause muscle weakness and loss of reflexes, especially at the ankle, leading to changes in the way a person walks. Foot deformities, such as hammertoes and the collapse of the midfoot, may occur. Blisters and sores may appear on numb areas of the foot because pressure or injury goes unnoticed. If an infection occurs and is not treated promptly, the infection may spread to the bone, and the foot may then have to be amputated. Many amputations are preventable if minor problems are caught and treated in time.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Autonomic neuropathy affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels. Autonomic neuropathy also affects other internal organs, causing problems with digestion, respiratory function, urination, sexual response, and vision. In addition, the system that restores blood glucose levels to normal after a hypoglycemic episode may be affected, resulting in loss of the warning symptoms of hypoglycemia. + +Hypoglycemia Unawareness + +Normally, symptoms such as shakiness, sweating, and palpitations occur when blood glucose levels drop below 70 mg/dL. In people with autonomic neuropathy, symptoms may not occur, making hypoglycemia difficult to recognize. Problems other than neuropathy can also cause hypoglycemia unawareness. + +Heart and Blood Vessels + +The heart and blood vessels are part of the cardiovascular system, which controls blood circulation. Damage to nerves in the cardiovascular system interferes with the body's ability to adjust blood pressure and heart rate. As a result, blood pressure may drop sharply after sitting or standing, causing a person to feel light-headed or even to faint. Damage to the nerves that control heart rate can mean that the heart rate stays high, instead of rising and falling in response to normal body functions and physical activity. + +Digestive System + +Nerve damage to the digestive system most commonly causes constipation. Damage can also cause the stomach to empty too slowly, a condition called gastroparesis. Severe gastroparesis can lead to persistent nausea and vomiting, bloating, and loss of appetite. Gastroparesis can also make blood glucose levels fluctuate widely, due to abnormal food digestion. + +Nerve damage to the esophagus may make swallowing difficult, while nerve damage to the bowels can cause constipation alternating with frequent, uncontrolled diarrhea, especially at night. Problems with the digestive system can lead to weight loss. + +Urinary Tract and Sex Organs + +Autonomic neuropathy often affects the organs that control urination and sexual function. Nerve damage can prevent the bladder from emptying completely, allowing bacteria to grow in the bladder and kidneys and causing urinary tract infections. When the nerves of the bladder are damaged, urinary incontinence may result because a person may not be able to sense when the bladder is full or control the muscles that release urine. + +Autonomic neuropathy can also gradually decrease sexual response in men and women, although the sex drive may be unchanged. A man may be unable to have erections or may reach sexual climax without ejaculating normally. A woman may have difficulty with arousal, lubrication, or orgasm. + +Sweat Glands + +Autonomic neuropathy can affect the nerves that control sweating. When nerve damage prevents the sweat glands from working properly, the body cannot regulate its temperature as it should. Nerve damage can also cause profuse sweating at night or while eating. + +Eyes + +Finally, autonomic neuropathy can affect the pupils of the eyes, making them less responsive to changes in light. As a result, a person may not be able to see well when a light is turned on in a dark room or may have trouble driving at night.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Proximal neuropathy, sometimes called lumbosacral plexus neuropathy, femoral neuropathy, or diabetic amyotrophy, starts with pain in the thighs, hips, buttocks, or legs, usually on one side of the body. This type of neuropathy is more common in those with type 2 diabetes and in older adults with diabetes. Proximal neuropathy causes weakness in the legs and the inability to go from a sitting to a standing position without help. Treatment for weakness or pain is usually needed. The length of the recovery period varies, depending on the type of nerve damage.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Focal neuropathy appears suddenly and affects specific nerves, most often in the head, torso, or leg. Focal neuropathy may cause + +- inability to focus the eye - double vision - aching behind one eye - paralysis on one side of the face, called Bell's palsy - severe pain in the lower back or pelvis - pain in the front of a thigh - pain in the chest, stomach, or side - pain on the outside of the shin or inside of the foot - chest or abdominal pain that is sometimes mistaken for heart disease, a heart attack, or appendicitis + +Focal neuropathy is painful and unpredictable and occurs most often in older adults with diabetes. However, it tends to improve by itself over weeks or months and does not cause long-term damage. + +People with diabetes also tend to develop nerve compressions, also called entrapment syndromes. One of the most common is carpal tunnel syndrome, which causes numbness and tingling of the hand and sometimes muscle weakness or pain. Other nerves susceptible to entrapment may cause pain on the outside of the shin or the inside of the foot.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +How to prevent Diabetic Neuropathies: The Nerve Damage of Diabetes ?,The best way to prevent neuropathy is to keep blood glucose levels as close to the normal range as possible. Maintaining safe blood glucose levels protects nerves throughout the body.,NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +How to diagnose Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"Doctors diagnose neuropathy on the basis of symptoms and a physical exam. During the exam, the doctor may check blood pressure, heart rate, muscle strength, reflexes, and sensitivity to position changes, vibration, temperature, or light touch. + +Foot Exams + +Experts recommend that people with diabetes have a comprehensive foot exam each year to check for peripheral neuropathy. People diagnosed with peripheral neuropathy need more frequent foot exams. A comprehensive foot exam assesses the skin, muscles, bones, circulation, and sensation of the feet. The doctor may assess protective sensation or feeling in the feet by touching them with a nylon monofilamentsimilar to a bristle on a hairbrushattached to a wand or by pricking them with a pin. People who cannot sense pressure from a pinprick or monofilament have lost protective sensation and are at risk for developing foot sores that may not heal properly. The doctor may also check temperature perception or use a tuning fork, which is more sensitive than touch pressure, to assess vibration perception. + +Other Tests + +The doctor may perform other tests as part of the diagnosis. + +- Nerve conduction studies or electromyography are sometimes used to help determine the type and extent of nerve damage. Nerve conduction studies check the transmission of electrical current through a nerve. Electromyography shows how well muscles respond to electrical signals transmitted by nearby nerves. These tests are rarely needed to diagnose neuropathy. - A check of heart rate variability shows how the heart responds to deep breathing and to changes in blood pressure and posture. - Ultrasound uses sound waves to produce an image of internal organs. An ultrasound of the bladder and other parts of the urinary tract, for example, can be used to assess the structure of these organs and show whether the bladder empties completely after urination.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What are the treatments for Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"The first treatment step is to bring blood glucose levels within the normal range to help prevent further nerve damage. Blood glucose monitoring, meal planning, physical activity, and diabetes medicines or insulin will help control blood glucose levels. Symptoms may get worse when blood glucose is first brought under control, but over time, maintaining lower blood glucose levels helps lessen symptoms. Good blood glucose control may also help prevent or delay the onset of further problems. As scientists learn more about the underlying causes of neuropathy, new treatments may become available to help slow, prevent, or even reverse nerve damage. + +As described in the following sections, additional treatment depends on the type of nerve problem and symptom. + +Pain Relief + +Doctors usually treat painful diabetic neuropathy with oral medications, although other types of treatments may help some people. People with severe nerve pain may benefit from a combination of medications or treatments and should consider talking with a health care provider about treatment options. + +Medications used to help relieve diabetic nerve pain include + +- tricyclic antidepressants, such as amitriptyline, imipramine, and desipramine (Norpramin, Pertofrane) - other types of antidepressants, such as duloxetine (Cymbalta), venlafaxine, bupropion (Wellbutrin), paroxetine (Paxil), and citalopram (Celexa) - anticonvulsants, such as pregabalin (Lyrica), gabapentin (Gabarone, Neurontin), carbamazepine, and lamotrigine (Lamictal) - opioids and opioidlike drugs, such as controlled-release oxycodone, an opioid; and tramadol (Ultram), an opioid that also acts as an antidepressant + +Duloxetine and pregabalin are approved by the U.S. Food and Drug Administration specifically for treating painful diabetic peripheral neuropathy. + +People do not have to be depressed for an antidepressant to help relieve their nerve pain. All medications have side effects, and some are not recommended for use in older adults or those with heart disease. Because over-the-counter pain medicines such as acetaminophen and ibuprofen may not work well for treating most nerve pain and can have serious side effects, some experts recommend avoiding these medications. + +Treatments that are applied to the skintypically to the feetinclude capsaicin cream and lidocaine patches (Lidoderm, Lidopain). Studies suggest that nitrate sprays or patches for the feet may relieve pain. Studies of alpha-lipoic acid, an antioxidant, and evening primrose oil suggest they may help relieve symptoms and improve nerve function in some patients. + +A device called a bed cradle can keep sheets and blankets from touching sensitive feet and legs. Acupuncture, biofeedback, or physical therapy may help relieve pain in some people. Treatments that involve electrical nerve stimulation, magnetic therapy, and laser or light therapy may be helpful but need further study. Researchers are also studying several new therapies in clinical trials. + +Gastrointestinal Problems + +To relieve mild symptoms of gastroparesisindigestion, belching, nausea, or vomitingdoctors suggest eating small, frequent meals; avoiding fats; and eating less fiber. When symptoms are severe, doctors may prescribe erythromycin to speed digestion, metoclopramide to speed digestion and help relieve nausea, or other medications to help regulate digestion or reduce stomach acid secretion. + +To relieve diarrhea or other bowel problems, doctors may prescribe an antibiotic such as tetracycline, or other medications as appropriate. + +Dizziness and Weakness + +Sitting or standing slowly may help prevent the light-headedness, dizziness, or fainting associated with blood pressure and circulation problems. Raising the head of the bed or wearing elastic stockings may also help. Some people benefit from increased salt in the diet and treatment with salt-retaining hormones. Others benefit from high blood pressure medications. Physical therapy can help when muscle weakness or loss of coordination is a problem. + +Urinary and Sexual Problems + +To clear up a urinary tract infection, the doctor will probably prescribe an antibiotic. Drinking plenty of fluids will help prevent another infection. People who have incontinence should try to urinate at regular intervalsevery 3 hours, for examplebecause they may not be able to tell when the bladder is full. + +To treat erectile dysfunction in men, the doctor will first do tests to rule out a hormonal cause. Several methods are available to treat erectile dysfunction caused by neuropathy. Medicines are available to help men have and maintain erections by increasing blood flow to the penis. Some are oral medications and others are injected into the penis or inserted into the urethra at the tip of the penis. Mechanical vacuum devices can also increase blood flow to the penis. Another option is to surgically implant an inflatable or semirigid device in the penis. + +Vaginal lubricants may be useful for women when neuropathy causes vaginal dryness. To treat problems with arousal and orgasm, the doctor may refer women to a gynecologist. + +Foot Care + +People with neuropathy need to take special care of their feet. The nerves to the feet are the longest in the body and are the ones most often affected by neuropathy. Loss of sensation in the feet means that sores or injuries may not be noticed and may become ulcerated or infected. Circulation problems also increase the risk of foot ulcers. Smoking increases the risk of foot problems and amputation. A health care provider may be able to provide help with quitting smoking. + +More than 60 percent of all nontraumatic lower-limb amputations in the United States occur in people with diabetes. Nontraumatic amputations are those not caused by trauma such as severe injuries from an accident. In 2004, about 71,000 nontraumatic amputations were performed in people with diabetes. Comprehensive foot care programs can reduce amputation rates by 45 to 85 percent. + +Careful foot care involves + +- cleaning the feet daily using warmnot hotwater and a mild soap. Soaking the feet should be avoided. A soft towel can be used to dry the feet and between the toes. - inspecting the feet and toes every day for cuts, blisters, redness, swelling, calluses, or other problems. Using a mirrorhandheld or placed on the floormay be helpful in checking the bottoms of the feet, or another person can help check the feet. A health care provider should be notified of any problems. - using lotion to moisturize the feet. Getting lotion between the toes should be avoided. - filing corns and calluses gently with a pumice stone after a bath or shower. - cutting toenails to the shape of the toes and filing the edges with an emery board each week or when needed. - always wearing shoes or slippers to protect feet from injuries. Wearing thick, soft, seamless socks can prevent skin irritation. - wearing shoes that fit well and allow the toes to move. New shoes can be broken in gradually by first wearing them for only an hour at a time. - looking shoes over carefully before putting them on and feeling the insides to make sure the shoes are free of tears, sharp edges, or objects that might injure the feet. + +People who need help taking care of their feet should consider making an appointment to see a foot doctor, also called a podiatrist.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes +What to do for Diabetic Neuropathies: The Nerve Damage of Diabetes ?,"- Diabetic neuropathies are nerve disorders caused by many of the abnormalities common to diabetes, such as high blood glucose. - Neuropathy can affect nerves throughout the body, causing numbness and sometimes pain in the hands, arms, feet, or legs, and problems with the digestive tract, heart, sex organs, and other body systems. - Treatment first involves bringing blood glucose levels within the normal range. Good blood glucose control may help prevent or delay the onset of further problems. - Foot care is an important part of treatment. People with neuropathy need to inspect their feet daily for any injuries. Untreated injuries increase the risk of infected foot sores and amputation. - Treatment also includes pain relief and other medications as needed, depending on the type of nerve damage. - Smoking increases the risk of foot problems and amputation. A health care provider may be able to provide help with quitting.",NIDDK,Diabetic Neuropathies: The Nerve Damage of Diabetes